HXA1_HUMAN
ID HXA1_HUMAN Reviewed; 335 AA.
AC P49639; A4D184; B2R8U7; O43363;
DT 01-FEB-1996, integrated into UniProtKB/Swiss-Prot.
DT 15-JUL-1999, sequence version 2.
DT 03-AUG-2022, entry version 211.
DE RecName: Full=Homeobox protein Hox-A1;
DE AltName: Full=Homeobox protein Hox-1F;
GN Name=HOXA1; Synonyms=HOX1F;
OS Homo sapiens (Human).
OC Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia;
OC Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae;
OC Homo.
OX NCBI_TaxID=9606;
RN [1]
RP NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 3).
RC TISSUE=Ovary;
RX PubMed=7622051; DOI=10.1016/0378-1119(95)92712-g;
RA Hong Y.S., Kim S.Y., Bhattacharya A., Pratt D.R., Hong W.K., Tainsky M.A.;
RT "Structure and function of the HOX A1 human homeobox gene cDNA.";
RL Gene 159:209-214(1995).
RN [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 3), AND VARIANT ARG-73.
RX PubMed=14702039; DOI=10.1038/ng1285;
RA Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R.,
RA Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H.,
RA Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S.,
RA Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K.,
RA Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H.,
RA Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M.,
RA Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K.,
RA Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T.,
RA Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M.,
RA Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S.,
RA Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H.,
RA Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K.,
RA Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N.,
RA Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S.,
RA Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O.,
RA Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H.,
RA Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B.,
RA Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y.,
RA Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K.,
RA Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T.,
RA Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T.,
RA Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y.,
RA Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H.,
RA Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y.,
RA Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H.,
RA Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O.,
RA Isogai T., Sugano S.;
RT "Complete sequencing and characterization of 21,243 full-length human
RT cDNAs.";
RL Nat. Genet. 36:40-45(2004).
RN [3]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RX PubMed=12690205; DOI=10.1126/science.1083423;
RA Scherer S.W., Cheung J., MacDonald J.R., Osborne L.R., Nakabayashi K.,
RA Herbrick J.-A., Carson A.R., Parker-Katiraee L., Skaug J., Khaja R.,
RA Zhang J., Hudek A.K., Li M., Haddad M., Duggan G.E., Fernandez B.A.,
RA Kanematsu E., Gentles S., Christopoulos C.C., Choufani S., Kwasnicka D.,
RA Zheng X.H., Lai Z., Nusskern D.R., Zhang Q., Gu Z., Lu F., Zeesman S.,
RA Nowaczyk M.J., Teshima I., Chitayat D., Shuman C., Weksberg R.,
RA Zackai E.H., Grebe T.A., Cox S.R., Kirkpatrick S.J., Rahman N.,
RA Friedman J.M., Heng H.H.Q., Pelicci P.G., Lo-Coco F., Belloni E.,
RA Shaffer L.G., Pober B., Morton C.C., Gusella J.F., Bruns G.A.P., Korf B.R.,
RA Quade B.J., Ligon A.H., Ferguson H., Higgins A.W., Leach N.T.,
RA Herrick S.R., Lemyre E., Farra C.G., Kim H.-G., Summers A.M., Gripp K.W.,
RA Roberts W., Szatmari P., Winsor E.J.T., Grzeschik K.-H., Teebi A.,
RA Minassian B.A., Kere J., Armengol L., Pujana M.A., Estivill X.,
RA Wilson M.D., Koop B.F., Tosi S., Moore G.E., Boright A.P., Zlotorynski E.,
RA Kerem B., Kroisel P.M., Petek E., Oscier D.G., Mould S.J., Doehner H.,
RA Doehner K., Rommens J.M., Vincent J.B., Venter J.C., Li P.W., Mural R.J.,
RA Adams M.D., Tsui L.-C.;
RT "Human chromosome 7: DNA sequence and biology.";
RL Science 300:767-772(2003).
RN [4]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RA Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L., Mobarry C.M.,
RA Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R., Flanigan M.J.,
RA Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V., Hannenhalli S.,
RA Turner R., Yooseph S., Lu F., Nusskern D.R., Shue B.C., Zheng X.H.,
RA Zhong F., Delcher A.L., Huson D.H., Kravitz S.A., Mouchard L., Reinert K.,
RA Remington K.A., Clark A.G., Waterman M.S., Eichler E.E., Adams M.D.,
RA Hunkapiller M.W., Myers E.W., Venter J.C.;
RL Submitted (JUL-2005) to the EMBL/GenBank/DDBJ databases.
RN [5]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RX PubMed=12853948; DOI=10.1038/nature01782;
RA Hillier L.W., Fulton R.S., Fulton L.A., Graves T.A., Pepin K.H.,
RA Wagner-McPherson C., Layman D., Maas J., Jaeger S., Walker R., Wylie K.,
RA Sekhon M., Becker M.C., O'Laughlin M.D., Schaller M.E., Fewell G.A.,
RA Delehaunty K.D., Miner T.L., Nash W.E., Cordes M., Du H., Sun H.,
RA Edwards J., Bradshaw-Cordum H., Ali J., Andrews S., Isak A., Vanbrunt A.,
RA Nguyen C., Du F., Lamar B., Courtney L., Kalicki J., Ozersky P.,
RA Bielicki L., Scott K., Holmes A., Harkins R., Harris A., Strong C.M.,
RA Hou S., Tomlinson C., Dauphin-Kohlberg S., Kozlowicz-Reilly A., Leonard S.,
RA Rohlfing T., Rock S.M., Tin-Wollam A.-M., Abbott A., Minx P., Maupin R.,
RA Strowmatt C., Latreille P., Miller N., Johnson D., Murray J.,
RA Woessner J.P., Wendl M.C., Yang S.-P., Schultz B.R., Wallis J.W.,
RA Spieth J., Bieri T.A., Nelson J.O., Berkowicz N., Wohldmann P.E.,
RA Cook L.L., Hickenbotham M.T., Eldred J., Williams D., Bedell J.A.,
RA Mardis E.R., Clifton S.W., Chissoe S.L., Marra M.A., Raymond C., Haugen E.,
RA Gillett W., Zhou Y., James R., Phelps K., Iadanoto S., Bubb K., Simms E.,
RA Levy R., Clendenning J., Kaul R., Kent W.J., Furey T.S., Baertsch R.A.,
RA Brent M.R., Keibler E., Flicek P., Bork P., Suyama M., Bailey J.A.,
RA Portnoy M.E., Torrents D., Chinwalla A.T., Gish W.R., Eddy S.R.,
RA McPherson J.D., Olson M.V., Eichler E.E., Green E.D., Waterston R.H.,
RA Wilson R.K.;
RT "The DNA sequence of human chromosome 7.";
RL Nature 424:157-164(2003).
RN [6]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 3).
RC TISSUE=Skin;
RX PubMed=15489334; DOI=10.1101/gr.2596504;
RG The MGC Project Team;
RT "The status, quality, and expansion of the NIH full-length cDNA project:
RT the Mammalian Gene Collection (MGC).";
RL Genome Res. 14:2121-2127(2004).
RN [7]
RP NUCLEOTIDE SEQUENCE [MRNA] OF 6-335 (ISOFORMS 1; 2 AND 3).
RX PubMed=7488013; DOI=10.1006/bbrc.1995.2522;
RA Chariot A., Moreau L., Senterre G., Sobel M., Castronovo V.;
RT "Retinoic acid induces three newly cloned HOXA1 transcripts in MCF7 breast
RT cancer cells.";
RL Biochem. Biophys. Res. Commun. 215:713-720(1995).
RN [8]
RP INTERACTION WITH PBX1.
RX PubMed=9191052; DOI=10.1038/sj.onc.1201097;
RA Knoepfler P.S., Kamps M.P.;
RT "The highest affinity DNA element bound by Pbx complexes in t(1;19)
RT leukemic cells fails to mediate cooperative DNA-binding or cooperative
RT transactivation by E2a-Pbx1 and class I Hox proteins - evidence for
RT selective targetting of E2a-Pbx1 to a subset of Pbx-recognition elements.";
RL Oncogene 14:2521-2531(1997).
RN [9]
RP VARIANT ARG-73.
RX PubMed=11091361;
RX DOI=10.1002/1096-9926(200012)62:6<393::aid-tera6>3.0.co;2-v;
RA Ingram J.L., Stodgell C.J., Hyman S.L., Figlewicz D.A., Weitkamp L.R.,
RA Rodier P.M.;
RT "Discovery of allelic variants of HOXA1 and HOXB1: genetic susceptibility
RT to autism spectrum disorders.";
RL Teratology 62:393-405(2000).
RN [10]
RP INVOLVEMENT IN ABDS AND BSAS.
RX PubMed=16155570; DOI=10.1038/ng1636;
RA Tischfield M.A., Bosley T.M., Salih M.A.M., Alorainy I.A., Sener E.C.,
RA Nester M.J., Oystreck D.T., Chan W.-M., Andrews C., Erickson R.P.,
RA Engle E.C.;
RT "Homozygous HOXA1 mutations disrupt human brainstem, inner ear,
RT cardiovascular and cognitive development.";
RL Nat. Genet. 37:1035-1037(2005).
CC -!- FUNCTION: Sequence-specific transcription factor (By similarity).
CC Regulates multiple developmental processes including brainstem, inner
CC and outer ear, abducens nerve and cardiovascular development and
CC morphogenesis as well as cognition and behavior (PubMed:16155570). Also
CC part of a developmental regulatory system that provides cells with
CC specific positional identities on the anterior-posterior axis. Acts on
CC the anterior body structures. Seems to act in the maintenance and/or
CC generation of hindbrain segments (By similarity). Activates
CC transcription in the presence of PBX1A and PKNOX1 (By similarity).
CC {ECO:0000250|UniProtKB:P09022, ECO:0000250|UniProtKB:Q90423,
CC ECO:0000269|PubMed:16155570}.
CC -!- SUBUNIT: Interacts with OGT (via TPR repeats domain); the interaction
CC takes place mainly in the nucleus (By similarity). Forms a DNA-binding
CC heterodimer with transcription factor PBX1 (PubMed:9191052).
CC {ECO:0000250|UniProtKB:P09022, ECO:0000269|PubMed:9191052}.
CC -!- INTERACTION:
CC P49639; O43184-4: ADAM12; NbExp=3; IntAct=EBI-740785, EBI-12006944;
CC P49639; Q6UY14-3: ADAMTSL4; NbExp=10; IntAct=EBI-740785, EBI-10173507;
CC P49639; P21549: AGXT; NbExp=3; IntAct=EBI-740785, EBI-727098;
CC P49639; Q9NP73-4: ALG13; NbExp=3; IntAct=EBI-740785, EBI-10186621;
CC P49639; P05187: ALPP; NbExp=7; IntAct=EBI-740785, EBI-1211484;
CC P49639; Q9Y4X0-3: AMMECR1; NbExp=3; IntAct=EBI-740785, EBI-12823597;
CC P49639; A2BDD9: AMOT; NbExp=3; IntAct=EBI-740785, EBI-17286414;
CC P49639; Q49AR9: ANKS1A; NbExp=3; IntAct=EBI-740785, EBI-11954519;
CC P49639; Q03989: ARID5A; NbExp=3; IntAct=EBI-740785, EBI-948603;
CC P49639; Q9H6L4: ARMC7; NbExp=3; IntAct=EBI-740785, EBI-742909;
CC P49639; Q674R7-2: ATG9B; NbExp=3; IntAct=EBI-740785, EBI-12837280;
CC P49639; Q9Y6H3: ATP23; NbExp=3; IntAct=EBI-740785, EBI-12811889;
CC P49639; O95429: BAG4; NbExp=3; IntAct=EBI-740785, EBI-2949658;
CC P49639; Q8TBE0: BAHD1; NbExp=3; IntAct=EBI-740785, EBI-742750;
CC P49639; Q8N1L9: BATF2; NbExp=3; IntAct=EBI-740785, EBI-742695;
CC P49639; Q6PI77: BHLHB9; NbExp=3; IntAct=EBI-740785, EBI-11519926;
CC P49639; P62952: BLCAP; NbExp=3; IntAct=EBI-740785, EBI-3895726;
CC P49639; Q9H2G9: BLZF1; NbExp=6; IntAct=EBI-740785, EBI-2548012;
CC P49639; J3KQ12: BSCL2; NbExp=6; IntAct=EBI-740785, EBI-11532900;
CC P49639; P41223: BUD31; NbExp=3; IntAct=EBI-740785, EBI-3904603;
CC P49639; Q9H5F2: C11orf1; NbExp=3; IntAct=EBI-740785, EBI-718615;
CC P49639; Q8NEC5: CATSPER1; NbExp=3; IntAct=EBI-740785, EBI-744545;
CC P49639; Q96HB5: CCDC120; NbExp=5; IntAct=EBI-740785, EBI-744556;
CC P49639; P48745: CCN3; NbExp=4; IntAct=EBI-740785, EBI-3904822;
CC P49639; O95388: CCN4; NbExp=5; IntAct=EBI-740785, EBI-1050638;
CC P49639; O76076: CCN5; NbExp=3; IntAct=EBI-740785, EBI-2850068;
CC P49639; O75909-2: CCNK; NbExp=5; IntAct=EBI-740785, EBI-12010594;
CC P49639; P48643: CCT5; NbExp=3; IntAct=EBI-740785, EBI-355710;
CC P49639; Q04900: CD164; NbExp=3; IntAct=EBI-740785, EBI-2115896;
CC P49639; Q6NVV7: CDPF1; NbExp=3; IntAct=EBI-740785, EBI-2802782;
CC P49639; Q5T4B2: CERCAM; NbExp=3; IntAct=EBI-740785, EBI-12261896;
CC P49639; P27918: CFP; NbExp=3; IntAct=EBI-740785, EBI-9038570;
CC P49639; Q9UKJ5: CHIC2; NbExp=4; IntAct=EBI-740785, EBI-741528;
CC P49639; Q9H2X0: CHRD; NbExp=4; IntAct=EBI-740785, EBI-947551;
CC P49639; Q6WN34-2: CHRDL2; NbExp=3; IntAct=EBI-740785, EBI-12593838;
CC P49639; Q9BYD5: CNFN; NbExp=3; IntAct=EBI-740785, EBI-12819063;
CC P49639; Q8NE01: CNNM3; NbExp=5; IntAct=EBI-740785, EBI-741032;
CC P49639; P27658: COL8A1; NbExp=6; IntAct=EBI-740785, EBI-747133;
CC P49639; Q02930-3: CREB5; NbExp=5; IntAct=EBI-740785, EBI-10192698;
CC P49639; O60888-3: CUTA; NbExp=3; IntAct=EBI-740785, EBI-10979071;
CC P49639; Q6ZMK1-3: CYHR1; NbExp=3; IntAct=EBI-740785, EBI-11997340;
CC P49639; Q08AG9: CYP21A2; NbExp=5; IntAct=EBI-740785, EBI-14156412;
CC P49639; A8MQ03: CYSRT1; NbExp=6; IntAct=EBI-740785, EBI-3867333;
CC P49639; G5E9A7: DMWD; NbExp=3; IntAct=EBI-740785, EBI-10976677;
CC P49639; Q92608: DOCK2; NbExp=3; IntAct=EBI-740785, EBI-448771;
CC P49639; Q8IZD9: DOCK3; NbExp=3; IntAct=EBI-740785, EBI-1752361;
CC P49639; Q7L591-3: DOK3; NbExp=3; IntAct=EBI-740785, EBI-10694655;
CC P49639; Q86UW9: DTX2; NbExp=6; IntAct=EBI-740785, EBI-740376;
CC P49639; Q9Y6W6: DUSP10; NbExp=5; IntAct=EBI-740785, EBI-3443946;
CC P49639; Q12805: EFEMP1; NbExp=4; IntAct=EBI-740785, EBI-536772;
CC P49639; Q9UHF1: EGFL7; NbExp=4; IntAct=EBI-740785, EBI-949532;
CC P49639; Q9H0I2: ENKD1; NbExp=5; IntAct=EBI-740785, EBI-744099;
CC P49639; Q9UM22: EPDR1; NbExp=3; IntAct=EBI-740785, EBI-946972;
CC P49639; Q9NQ30: ESM1; NbExp=3; IntAct=EBI-740785, EBI-12260294;
CC P49639; Q92731-3: ESR2; NbExp=3; IntAct=EBI-740785, EBI-12259414;
CC P49639; Q9NVM1: EVA1B; NbExp=3; IntAct=EBI-740785, EBI-10314666;
CC P49639; Q0VG06-3: FAAP100; NbExp=3; IntAct=EBI-740785, EBI-10226932;
CC P49639; Q5XKK7: FAM219B; NbExp=3; IntAct=EBI-740785, EBI-12290965;
CC P49639; A4D161: FAM221A; NbExp=7; IntAct=EBI-740785, EBI-11960181;
CC P49639; P23142-4: FBLN1; NbExp=3; IntAct=EBI-740785, EBI-11956479;
CC P49639; Q13643: FHL3; NbExp=3; IntAct=EBI-740785, EBI-741101;
CC P49639; Q5TD97: FHL5; NbExp=3; IntAct=EBI-740785, EBI-750641;
CC P49639; O75593: FOXH1; NbExp=3; IntAct=EBI-740785, EBI-1759806;
CC P49639; O15353: FOXN1; NbExp=3; IntAct=EBI-740785, EBI-11319000;
CC P49639; O43559: FRS3; NbExp=7; IntAct=EBI-740785, EBI-725515;
CC P49639; P19883: FST; NbExp=3; IntAct=EBI-740785, EBI-1571188;
CC P49639; Q9BTY2: FUCA2; NbExp=3; IntAct=EBI-740785, EBI-9050116;
CC P49639; O95995: GAS8; NbExp=3; IntAct=EBI-740785, EBI-1052570;
CC P49639; P15976: GATA1; NbExp=3; IntAct=EBI-740785, EBI-3909284;
CC P49639; P15976-2: GATA1; NbExp=3; IntAct=EBI-740785, EBI-9090198;
CC P49639; O75603: GCM2; NbExp=3; IntAct=EBI-740785, EBI-10188645;
CC P49639; Q99988: GDF15; NbExp=3; IntAct=EBI-740785, EBI-2116863;
CC P49639; Q9Y223-2: GNE; NbExp=5; IntAct=EBI-740785, EBI-11975289;
CC P49639; P14770: GP9; NbExp=4; IntAct=EBI-740785, EBI-1754109;
CC P49639; Q13227: GPS2; NbExp=3; IntAct=EBI-740785, EBI-713355;
CC P49639; P28799: GRN; NbExp=18; IntAct=EBI-740785, EBI-747754;
CC P49639; P28799-2: GRN; NbExp=3; IntAct=EBI-740785, EBI-25860013;
CC P49639; P09211: GSTP1; NbExp=3; IntAct=EBI-740785, EBI-353467;
CC P49639; Q96NT3-2: GUCD1; NbExp=5; IntAct=EBI-740785, EBI-11978177;
CC P49639; A0A024R8L2: hCG_1987119; NbExp=3; IntAct=EBI-740785, EBI-14103818;
CC P49639; P07686: HEXB; NbExp=3; IntAct=EBI-740785, EBI-7133736;
CC P49639; Q96MH2: HEXIM2; NbExp=3; IntAct=EBI-740785, EBI-5460660;
CC P49639; Q9UBP5: HEY2; NbExp=3; IntAct=EBI-740785, EBI-750630;
CC P49639; P49639: HOXA1; NbExp=6; IntAct=EBI-740785, EBI-740785;
CC P49639; P17482: HOXB9; NbExp=3; IntAct=EBI-740785, EBI-745290;
CC P49639; O43593: HR; NbExp=3; IntAct=EBI-740785, EBI-2880706;
CC P49639; Q9H2F3: HSD3B7; NbExp=3; IntAct=EBI-740785, EBI-3918847;
CC P49639; Q02535: ID3; NbExp=3; IntAct=EBI-740785, EBI-1387094;
CC P49639; Q6UW32: IGFL1; NbExp=3; IntAct=EBI-740785, EBI-3870426;
CC P49639; Q86VF2-5: IGFN1; NbExp=3; IntAct=EBI-740785, EBI-11955401;
CC P49639; Q0VD86: INCA1; NbExp=3; IntAct=EBI-740785, EBI-6509505;
CC P49639; Q9C086: INO80B; NbExp=5; IntAct=EBI-740785, EBI-715611;
CC P49639; P78412: IRX6; NbExp=3; IntAct=EBI-740785, EBI-12100506;
CC P49639; P16144-2: ITGB4; NbExp=3; IntAct=EBI-740785, EBI-11051601;
CC P49639; Q7L273: KCTD9; NbExp=5; IntAct=EBI-740785, EBI-4397613;
CC P49639; O60333-2: KIF1B; NbExp=3; IntAct=EBI-740785, EBI-10975473;
CC P49639; Q5T749: KPRP; NbExp=8; IntAct=EBI-740785, EBI-10981970;
CC P49639; Q15323: KRT31; NbExp=7; IntAct=EBI-740785, EBI-948001;
CC P49639; Q14525: KRT33B; NbExp=3; IntAct=EBI-740785, EBI-1049638;
CC P49639; O76011: KRT34; NbExp=3; IntAct=EBI-740785, EBI-1047093;
CC P49639; Q92764: KRT35; NbExp=3; IntAct=EBI-740785, EBI-1058674;
CC P49639; O76014: KRT37; NbExp=3; IntAct=EBI-740785, EBI-1045716;
CC P49639; O76015: KRT38; NbExp=6; IntAct=EBI-740785, EBI-1047263;
CC P49639; Q6A162: KRT40; NbExp=3; IntAct=EBI-740785, EBI-10171697;
CC P49639; Q14533: KRT81; NbExp=5; IntAct=EBI-740785, EBI-739648;
CC P49639; Q9NSB4: KRT82; NbExp=3; IntAct=EBI-740785, EBI-1045341;
CC P49639; P78385: KRT83; NbExp=8; IntAct=EBI-740785, EBI-10221390;
CC P49639; Q07627: KRTAP1-1; NbExp=3; IntAct=EBI-740785, EBI-11959885;
CC P49639; Q8IUG1: KRTAP1-3; NbExp=5; IntAct=EBI-740785, EBI-11749135;
CC P49639; Q9BYS1: KRTAP1-5; NbExp=5; IntAct=EBI-740785, EBI-11741292;
CC P49639; P60014: KRTAP10-10; NbExp=3; IntAct=EBI-740785, EBI-11955579;
CC P49639; P60412: KRTAP10-11; NbExp=9; IntAct=EBI-740785, EBI-10217483;
CC P49639; P60372: KRTAP10-4; NbExp=3; IntAct=EBI-740785, EBI-10178153;
CC P49639; P60370: KRTAP10-5; NbExp=6; IntAct=EBI-740785, EBI-10172150;
CC P49639; P60409: KRTAP10-7; NbExp=5; IntAct=EBI-740785, EBI-10172290;
CC P49639; P60410: KRTAP10-8; NbExp=9; IntAct=EBI-740785, EBI-10171774;
CC P49639; P60411: KRTAP10-9; NbExp=8; IntAct=EBI-740785, EBI-10172052;
CC P49639; Q8IUC1: KRTAP11-1; NbExp=5; IntAct=EBI-740785, EBI-1052037;
CC P49639; P59990: KRTAP12-1; NbExp=13; IntAct=EBI-740785, EBI-10210845;
CC P49639; P59991: KRTAP12-2; NbExp=3; IntAct=EBI-740785, EBI-10176379;
CC P49639; P60328: KRTAP12-3; NbExp=6; IntAct=EBI-740785, EBI-11953334;
CC P49639; P60329: KRTAP12-4; NbExp=10; IntAct=EBI-740785, EBI-10176396;
CC P49639; Q52LG2: KRTAP13-2; NbExp=5; IntAct=EBI-740785, EBI-11953846;
CC P49639; Q3SY46: KRTAP13-3; NbExp=3; IntAct=EBI-740785, EBI-10241252;
CC P49639; Q3LI77: KRTAP13-4; NbExp=3; IntAct=EBI-740785, EBI-11953996;
CC P49639; Q3LI76: KRTAP15-1; NbExp=7; IntAct=EBI-740785, EBI-11992140;
CC P49639; Q3LI70: KRTAP19-6; NbExp=3; IntAct=EBI-740785, EBI-12805508;
CC P49639; Q3SYF9: KRTAP19-7; NbExp=3; IntAct=EBI-740785, EBI-10241353;
CC P49639; Q9BYR9: KRTAP2-4; NbExp=3; IntAct=EBI-740785, EBI-14065470;
CC P49639; A1A580: KRTAP23-1; NbExp=3; IntAct=EBI-740785, EBI-10171734;
CC P49639; Q6PEX3: KRTAP26-1; NbExp=8; IntAct=EBI-740785, EBI-3957672;
CC P49639; Q9BYR7: KRTAP3-2; NbExp=6; IntAct=EBI-740785, EBI-751260;
CC P49639; Q9BYR6: KRTAP3-3; NbExp=3; IntAct=EBI-740785, EBI-3957694;
CC P49639; A0A087WY89: KRTAP4-1; NbExp=3; IntAct=EBI-740785, EBI-11957260;
CC P49639; Q9BYQ6: KRTAP4-11; NbExp=11; IntAct=EBI-740785, EBI-10302392;
CC P49639; Q9BQ66: KRTAP4-12; NbExp=9; IntAct=EBI-740785, EBI-739863;
CC P49639; Q9BYR5: KRTAP4-2; NbExp=10; IntAct=EBI-740785, EBI-10172511;
CC P49639; Q9BYR3: KRTAP4-4; NbExp=5; IntAct=EBI-740785, EBI-11958132;
CC P49639; Q9BYR2: KRTAP4-5; NbExp=7; IntAct=EBI-740785, EBI-11993254;
CC P49639; Q9BYR0: KRTAP4-7; NbExp=3; IntAct=EBI-740785, EBI-10302547;
CC P49639; Q6L8G4: KRTAP5-11; NbExp=5; IntAct=EBI-740785, EBI-11993296;
CC P49639; Q701N4: KRTAP5-2; NbExp=5; IntAct=EBI-740785, EBI-11958178;
CC P49639; Q6L8H2: KRTAP5-3; NbExp=5; IntAct=EBI-740785, EBI-11974251;
CC P49639; Q6L8H1: KRTAP5-4; NbExp=8; IntAct=EBI-740785, EBI-11963072;
CC P49639; Q6L8G9: KRTAP5-6; NbExp=9; IntAct=EBI-740785, EBI-10250562;
CC P49639; P26371: KRTAP5-9; NbExp=12; IntAct=EBI-740785, EBI-3958099;
CC P49639; Q3LI64: KRTAP6-1; NbExp=3; IntAct=EBI-740785, EBI-12111050;
CC P49639; Q3LI66: KRTAP6-2; NbExp=3; IntAct=EBI-740785, EBI-11962084;
CC P49639; Q9BYQ4: KRTAP9-2; NbExp=13; IntAct=EBI-740785, EBI-1044640;
CC P49639; Q9BYQ3: KRTAP9-3; NbExp=8; IntAct=EBI-740785, EBI-1043191;
CC P49639; Q9BYQ2: KRTAP9-4; NbExp=3; IntAct=EBI-740785, EBI-10185730;
CC P49639; Q9BYQ0: KRTAP9-8; NbExp=8; IntAct=EBI-740785, EBI-11958364;
CC P49639; Q14847-2: LASP1; NbExp=3; IntAct=EBI-740785, EBI-9088686;
CC P49639; Q5T7P2: LCE1A; NbExp=6; IntAct=EBI-740785, EBI-11962058;
CC P49639; Q5T7P3: LCE1B; NbExp=13; IntAct=EBI-740785, EBI-10245913;
CC P49639; Q5T751: LCE1C; NbExp=3; IntAct=EBI-740785, EBI-12224199;
CC P49639; Q5T752: LCE1D; NbExp=5; IntAct=EBI-740785, EBI-11741311;
CC P49639; Q5T754: LCE1F; NbExp=6; IntAct=EBI-740785, EBI-11958008;
CC P49639; Q5TA79: LCE2A; NbExp=3; IntAct=EBI-740785, EBI-10246607;
CC P49639; O14633: LCE2B; NbExp=5; IntAct=EBI-740785, EBI-11478468;
CC P49639; Q5TA81: LCE2C; NbExp=8; IntAct=EBI-740785, EBI-11973993;
CC P49639; Q5TA82: LCE2D; NbExp=8; IntAct=EBI-740785, EBI-10246750;
CC P49639; Q5T5A8: LCE3C; NbExp=3; IntAct=EBI-740785, EBI-10245291;
CC P49639; Q5T5B0: LCE3E; NbExp=3; IntAct=EBI-740785, EBI-10245456;
CC P49639; Q5TA78: LCE4A; NbExp=9; IntAct=EBI-740785, EBI-10246358;
CC P49639; Q5TCM9: LCE5A; NbExp=8; IntAct=EBI-740785, EBI-11955689;
CC P49639; Q9UHV8: LGALS13; NbExp=6; IntAct=EBI-740785, EBI-3957707;
CC P49639; P56470: LGALS4; NbExp=3; IntAct=EBI-740785, EBI-720805;
CC P49639; O60663-2: LMX1B; NbExp=3; IntAct=EBI-740785, EBI-10258690;
CC P49639; Q8TBB1: LNX1; NbExp=3; IntAct=EBI-740785, EBI-739832;
CC P49639; Q17RB8: LONRF1; NbExp=3; IntAct=EBI-740785, EBI-2341787;
CC P49639; Q8N5G2: MACO1; NbExp=3; IntAct=EBI-740785, EBI-2683507;
CC P49639; O60336: MAPKBP1; NbExp=5; IntAct=EBI-740785, EBI-947402;
CC P49639; Q99750: MDFI; NbExp=7; IntAct=EBI-740785, EBI-724076;
CC P49639; P55001: MFAP2; NbExp=3; IntAct=EBI-740785, EBI-2462387;
CC P49639; Q13064: MKRN3; NbExp=3; IntAct=EBI-740785, EBI-2340269;
CC P49639; Q86VE0: MYPOP; NbExp=3; IntAct=EBI-740785, EBI-2858213;
CC P49639; Q92802: N4BP2L2; NbExp=3; IntAct=EBI-740785, EBI-2514973;
CC P49639; O43639: NCK2; NbExp=3; IntAct=EBI-740785, EBI-713635;
CC P49639; Q92692-2: NECTIN2; NbExp=3; IntAct=EBI-740785, EBI-6979889;
CC P49639; Q14511-2: NEDD9; NbExp=3; IntAct=EBI-740785, EBI-11746523;
CC P49639; Q9HC98-4: NEK6; NbExp=3; IntAct=EBI-740785, EBI-11750983;
CC P49639; Q99435: NELL2; NbExp=2; IntAct=EBI-740785, EBI-946274;
CC P49639; Q99435-2: NELL2; NbExp=3; IntAct=EBI-740785, EBI-17754404;
CC P49639; Q8NI38: NFKBID; NbExp=3; IntAct=EBI-740785, EBI-10271199;
CC P49639; Q7Z3S9: NOTCH2NLA; NbExp=3; IntAct=EBI-740785, EBI-945833;
CC P49639; P0DPK4: NOTCH2NLC; NbExp=3; IntAct=EBI-740785, EBI-22310682;
CC P49639; Q6NSM0: NR1D2; NbExp=5; IntAct=EBI-740785, EBI-10250949;
CC P49639; Q9HB63: NTN4; NbExp=5; IntAct=EBI-740785, EBI-743459;
CC P49639; Q9UBU9: NXF1; NbExp=3; IntAct=EBI-740785, EBI-398874;
CC P49639; Q14990: ODF1; NbExp=3; IntAct=EBI-740785, EBI-10234557;
CC P49639; Q8WWZ8: OIT3; NbExp=5; IntAct=EBI-740785, EBI-10277776;
CC P49639; Q15077: P2RY6; NbExp=5; IntAct=EBI-740785, EBI-10235794;
CC P49639; P26367: PAX6; NbExp=3; IntAct=EBI-740785, EBI-747278;
CC P49639; P40425: PBX2; NbExp=3; IntAct=EBI-740785, EBI-348489;
CC P49639; Q92824-2: PCSK5; NbExp=5; IntAct=EBI-740785, EBI-11956269;
CC P49639; Q9UHG3: PCYOX1; NbExp=3; IntAct=EBI-740785, EBI-2908417;
CC P49639; Q8N4B1-4: PHETA1; NbExp=3; IntAct=EBI-740785, EBI-14131832;
CC P49639; Q13526: PIN1; NbExp=5; IntAct=EBI-740785, EBI-714158;
CC P49639; P78337: PITX1; NbExp=5; IntAct=EBI-740785, EBI-748265;
CC P49639; Q99697-2: PITX2; NbExp=3; IntAct=EBI-740785, EBI-12138495;
CC P49639; Q494U1-3: PLEKHN1; NbExp=3; IntAct=EBI-740785, EBI-12014286;
CC P49639; Q9Y342: PLLP; NbExp=3; IntAct=EBI-740785, EBI-3919291;
CC P49639; Q9NRY7: PLSCR2; NbExp=3; IntAct=EBI-740785, EBI-3937430;
CC P49639; Q9NRY6: PLSCR3; NbExp=5; IntAct=EBI-740785, EBI-750734;
CC P49639; Q9NRQ2: PLSCR4; NbExp=5; IntAct=EBI-740785, EBI-769257;
CC P49639; Q7Z5V6-2: PPP1R32; NbExp=5; IntAct=EBI-740785, EBI-12000762;
CC P49639; P04156: PRNP; NbExp=4; IntAct=EBI-740785, EBI-977302;
CC P49639; O75360: PROP1; NbExp=3; IntAct=EBI-740785, EBI-9027467;
CC P49639; P20618: PSMB1; NbExp=3; IntAct=EBI-740785, EBI-372273;
CC P49639; Q03431: PTH1R; NbExp=3; IntAct=EBI-740785, EBI-2860297;
CC P49639; P15151: PVR; NbExp=3; IntAct=EBI-740785, EBI-3919694;
CC P49639; P47897: QARS1; NbExp=3; IntAct=EBI-740785, EBI-347462;
CC P49639; Q12967-6: RALGDS; NbExp=3; IntAct=EBI-740785, EBI-12005546;
CC P49639; P10745: RBP3; NbExp=3; IntAct=EBI-740785, EBI-12806054;
CC P49639; Q93062: RBPMS; NbExp=3; IntAct=EBI-740785, EBI-740322;
CC P49639; Q9UGC6: RGS17; NbExp=6; IntAct=EBI-740785, EBI-3918154;
CC P49639; P49795: RGS19; NbExp=3; IntAct=EBI-740785, EBI-874907;
CC P49639; O76081: RGS20; NbExp=5; IntAct=EBI-740785, EBI-1052678;
CC P49639; O76081-6: RGS20; NbExp=3; IntAct=EBI-740785, EBI-10178530;
CC P49639; Q9H0X6: RNF208; NbExp=3; IntAct=EBI-740785, EBI-751555;
CC P49639; Q6UXX9-2: RSPO2; NbExp=3; IntAct=EBI-740785, EBI-12009390;
CC P49639; Q9BZR6: RTN4R; NbExp=3; IntAct=EBI-740785, EBI-5240240;
CC P49639; P09683: SCT; NbExp=3; IntAct=EBI-740785, EBI-12844598;
CC P49639; O00560: SDCBP; NbExp=6; IntAct=EBI-740785, EBI-727004;
CC P49639; O15304-2: SIVA1; NbExp=3; IntAct=EBI-740785, EBI-12372219;
CC P49639; Q8IY34: SLC15A3; NbExp=3; IntAct=EBI-740785, EBI-12179023;
CC P49639; Q9UHI7-3: SLC23A1; NbExp=3; IntAct=EBI-740785, EBI-11998660;
CC P49639; O75093: SLIT1; NbExp=4; IntAct=EBI-740785, EBI-947791;
CC P49639; P03973: SLPI; NbExp=3; IntAct=EBI-740785, EBI-355293;
CC P49639; P14678-2: SNRPB; NbExp=3; IntAct=EBI-740785, EBI-372475;
CC P49639; P09234: SNRPC; NbExp=5; IntAct=EBI-740785, EBI-766589;
CC P49639; Q7Z6I5: SPATA12; NbExp=3; IntAct=EBI-740785, EBI-10696971;
CC P49639; Q8TC71: SPATA18; NbExp=3; IntAct=EBI-740785, EBI-11334239;
CC P49639; Q7Z699: SPRED1; NbExp=3; IntAct=EBI-740785, EBI-5235340;
CC P49639; O43609: SPRY1; NbExp=8; IntAct=EBI-740785, EBI-3866665;
CC P49639; O43610: SPRY3; NbExp=3; IntAct=EBI-740785, EBI-12290641;
CC P49639; Q9C004: SPRY4; NbExp=3; IntAct=EBI-740785, EBI-354861;
CC P49639; Q9Y2M2-2: SSUH2; NbExp=5; IntAct=EBI-740785, EBI-12231891;
CC P49639; O75558: STX11; NbExp=3; IntAct=EBI-740785, EBI-714135;
CC P49639; O43463: SUV39H1; NbExp=2; IntAct=EBI-740785, EBI-349968;
CC P49639; Q8IV04: TBC1D10C; NbExp=6; IntAct=EBI-740785, EBI-10261452;
CC P49639; Q96SF7: TBX15; NbExp=3; IntAct=EBI-740785, EBI-10191361;
CC P49639; Q9Y242: TCF19; NbExp=3; IntAct=EBI-740785, EBI-7413767;
CC P49639; Q8WW24: TEKT4; NbExp=3; IntAct=EBI-740785, EBI-750487;
CC P49639; Q96M29: TEKT5; NbExp=3; IntAct=EBI-740785, EBI-10239812;
CC P49639; P01137: TGFB1; NbExp=3; IntAct=EBI-740785, EBI-779636;
CC P49639; Q96PF1: TGM7; NbExp=3; IntAct=EBI-740785, EBI-12029034;
CC P49639; Q9BT49: THAP7; NbExp=3; IntAct=EBI-740785, EBI-741350;
CC P49639; Q08117-2: TLE5; NbExp=3; IntAct=EBI-740785, EBI-11741437;
CC P49639; Q63HR2: TNS2; NbExp=3; IntAct=EBI-740785, EBI-949753;
CC P49639; Q13077: TRAF1; NbExp=3; IntAct=EBI-740785, EBI-359224;
CC P49639; Q12933: TRAF2; NbExp=3; IntAct=EBI-740785, EBI-355744;
CC P49639; Q9BUZ4: TRAF4; NbExp=3; IntAct=EBI-740785, EBI-3650647;
CC P49639; Q8IWZ5: TRIM42; NbExp=12; IntAct=EBI-740785, EBI-5235829;
CC P49639; Q9BZR9: TRIM8; NbExp=3; IntAct=EBI-740785, EBI-2340370;
CC P49639; O14817: TSPAN4; NbExp=3; IntAct=EBI-740785, EBI-8652667;
CC P49639; Q9BZL1: UBL5; NbExp=3; IntAct=EBI-740785, EBI-607755;
CC P49639; Q9H9P5-5: UNKL; NbExp=3; IntAct=EBI-740785, EBI-12817837;
CC P49639; Q6EMK4: VASN; NbExp=5; IntAct=EBI-740785, EBI-10249550;
CC P49639; Q2TAL6: VWC2; NbExp=6; IntAct=EBI-740785, EBI-11957238;
CC P49639; B2RUY7: VWC2L; NbExp=3; IntAct=EBI-740785, EBI-11747707;
CC P49639; Q9BRX9: WDR83; NbExp=3; IntAct=EBI-740785, EBI-7705033;
CC P49639; Q9NZC7-5: WWOX; NbExp=3; IntAct=EBI-740785, EBI-12040603;
CC P49639; Q9GZM5: YIPF3; NbExp=3; IntAct=EBI-740785, EBI-743787;
CC P49639; Q05516: ZBTB16; NbExp=3; IntAct=EBI-740785, EBI-711925;
CC P49639; Q9NZV7: ZIM2; NbExp=3; IntAct=EBI-740785, EBI-11962760;
CC P49639; Q8TAU3: ZNF417; NbExp=5; IntAct=EBI-740785, EBI-740727;
CC P49639; Q96SQ5: ZNF587; NbExp=5; IntAct=EBI-740785, EBI-6427977;
CC P49639; P0C7X2: ZNF688; NbExp=3; IntAct=EBI-740785, EBI-4395732;
CC P49639; Q6NX45: ZNF774; NbExp=3; IntAct=EBI-740785, EBI-10251462;
CC P49639; Q96EG3: ZNF837; NbExp=5; IntAct=EBI-740785, EBI-11962574;
CC P49639; Q8N446: ZNF843; NbExp=3; IntAct=EBI-740785, EBI-6428016;
CC P49639; A0A384ME25; NbExp=3; IntAct=EBI-740785, EBI-10211777;
CC P49639; Q7Z783; NbExp=6; IntAct=EBI-740785, EBI-9088990;
CC P49639; P09022: Hoxa1; Xeno; NbExp=4; IntAct=EBI-740785, EBI-3957603;
CC -!- SUBCELLULAR LOCATION: Nucleus {ECO:0000250|UniProtKB:P09022}.
CC -!- ALTERNATIVE PRODUCTS:
CC Event=Alternative splicing; Named isoforms=3;
CC Name=3; Synonyms=36 kDa;
CC IsoId=P49639-1; Sequence=Displayed;
CC Name=1; Synonyms=14 kDa;
CC IsoId=P49639-2; Sequence=VSP_002376, VSP_002377;
CC Name=2; Synonyms=24 kDa;
CC IsoId=P49639-3; Sequence=VSP_002378, VSP_002379;
CC -!- DISEASE: Athabaskan brainstem dysgenesis syndrome (ABDS) [MIM:601536]:
CC Characterized by horizontal gaze palsy, sensorineural deafness, central
CC hypoventilation, and developmental delay. Some patients had swallowing
CC dysfunction, vocal cord paralysis, facial paresis, seizures, and
CC cardiac outflow tract anomalies. {ECO:0000269|PubMed:16155570}.
CC Note=The disease is caused by variants affecting the gene represented
CC in this entry.
CC -!- DISEASE: Bosley-Salih-Alorainy syndrome (BSAS) [MIM:601536]: A disease
CC characterized by horizontal gaze abnormalities, deafness, facial
CC weakness, vascular malformations of the internal carotid arteries and
CC cardiac outflow trac. Some patients manifest intellectual disability
CC and autism spectrum disorder. Affected individuals do not suffer from
CC central hypoventilation. Note=The disease is caused by variants
CC affecting the gene represented in this entry.
CC -!- MISCELLANEOUS: [Isoform 1]: Lacks the homeobox domain. {ECO:0000305}.
CC -!- MISCELLANEOUS: [Isoform 2]: Lacks the homeobox domain. {ECO:0000305}.
CC -!- SIMILARITY: Belongs to the Antp homeobox family. Labial subfamily.
CC {ECO:0000305}.
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DR EMBL; U10421; AAA86954.1; -; mRNA.
DR EMBL; AK313514; BAG36294.1; -; mRNA.
DR EMBL; AC004079; AAS00374.1; -; Genomic_DNA.
DR EMBL; CH236948; EAL24228.1; -; Genomic_DNA.
DR EMBL; CH471073; EAW93861.1; -; Genomic_DNA.
DR EMBL; BC032547; AAH32547.1; -; mRNA.
DR EMBL; U37431; AAC50248.1; -; mRNA.
DR EMBL; U37431; AAC50249.1; -; mRNA.
DR EMBL; U37431; AAC50250.1; -; mRNA.
DR EMBL; S79869; AAB35424.2; -; mRNA.
DR EMBL; S79871; AAB35425.1; -; mRNA.
DR EMBL; S79910; AAB35423.2; -; mRNA.
DR CCDS; CCDS5401.1; -. [P49639-1]
DR CCDS; CCDS5402.2; -. [P49639-2]
DR PIR; G01448; G01448.
DR RefSeq; NP_005513.1; NM_005522.4.
DR RefSeq; NP_705873.2; NM_153620.2.
DR AlphaFoldDB; P49639; -.
DR SMR; P49639; -.
DR BioGRID; 109438; 347.
DR ELM; P49639; -.
DR IntAct; P49639; 329.
DR MINT; P49639; -.
DR STRING; 9606.ENSP00000343246; -.
DR iPTMnet; P49639; -.
DR PhosphoSitePlus; P49639; -.
DR BioMuta; HOXA1; -.
DR DMDM; 6166216; -.
DR jPOST; P49639; -.
DR MassIVE; P49639; -.
DR PaxDb; P49639; -.
DR PeptideAtlas; P49639; -.
DR PRIDE; P49639; -.
DR ProteomicsDB; 56033; -. [P49639-1]
DR ProteomicsDB; 56034; -. [P49639-2]
DR DNASU; 3198; -.
DR GeneID; 3198; -.
DR KEGG; hsa:3198; -.
DR UCSC; uc003sye.4; human. [P49639-1]
DR CTD; 3198; -.
DR DisGeNET; 3198; -.
DR GeneCards; HOXA1; -.
DR HGNC; HGNC:5099; HOXA1.
DR MalaCards; HOXA1; -.
DR MIM; 142955; gene.
DR MIM; 601536; phenotype.
DR neXtProt; NX_P49639; -.
DR Orphanet; 69739; Athabaskan brainstem dysgenesis syndrome.
DR Orphanet; 69737; Bosley-Salih-Alorainy syndrome.
DR PharmGKB; PA29376; -.
DR eggNOG; KOG0489; Eukaryota.
DR HOGENOM; CLU_058839_1_1_1; -.
DR InParanoid; P49639; -.
DR OrthoDB; 1216870at2759; -.
DR PhylomeDB; P49639; -.
DR TreeFam; TF317730; -.
DR PathwayCommons; P49639; -.
DR Reactome; R-HSA-5617472; Activation of anterior HOX genes in hindbrain development during early embryogenesis.
DR SignaLink; P49639; -.
DR SIGNOR; P49639; -.
DR BioGRID-ORCS; 3198; 12 hits in 1097 CRISPR screens.
DR ChiTaRS; HOXA1; human.
DR GeneWiki; Homeobox_A1; -.
DR GenomeRNAi; 3198; -.
DR Pharos; P49639; Tbio.
DR PRO; PR:P49639; -.
DR Proteomes; UP000005640; Unplaced.
DR RNAct; P49639; protein.
DR Genevisible; P49639; HS.
DR GO; GO:0000785; C:chromatin; ISA:NTNU_SB.
DR GO; GO:0005634; C:nucleus; IBA:GO_Central.
DR GO; GO:0001228; F:DNA-binding transcription activator activity, RNA polymerase II-specific; IDA:NTNU_SB.
DR GO; GO:0000981; F:DNA-binding transcription factor activity, RNA polymerase II-specific; ISA:NTNU_SB.
DR GO; GO:0042802; F:identical protein binding; IPI:IntAct.
DR GO; GO:0000978; F:RNA polymerase II cis-regulatory region sequence-specific DNA binding; IBA:GO_Central.
DR GO; GO:0043565; F:sequence-specific DNA binding; IDA:NTNU_SB.
DR GO; GO:1990837; F:sequence-specific double-stranded DNA binding; IDA:ARUK-UCL.
DR GO; GO:0021599; P:abducens nerve formation; IMP:DFLAT.
DR GO; GO:0009653; P:anatomical structure morphogenesis; IMP:DFLAT.
DR GO; GO:0060840; P:artery development; IMP:DFLAT.
DR GO; GO:0048844; P:artery morphogenesis; IMP:DFLAT.
DR GO; GO:0090102; P:cochlea development; IMP:DFLAT.
DR GO; GO:0090103; P:cochlea morphogenesis; IMP:DFLAT.
DR GO; GO:0050890; P:cognition; IDA:DFLAT.
DR GO; GO:0048702; P:embryonic neurocranium morphogenesis; IMP:DFLAT.
DR GO; GO:0048839; P:inner ear development; IMP:DFLAT.
DR GO; GO:0050905; P:neuromuscular process; IDA:DFLAT.
DR GO; GO:0007634; P:optokinetic behavior; IDA:DFLAT.
DR GO; GO:0042473; P:outer ear morphogenesis; IDA:DFLAT.
DR GO; GO:0045944; P:positive regulation of transcription by RNA polymerase II; IDA:NTNU_SB.
DR GO; GO:0050795; P:regulation of behavior; IDA:DFLAT.
DR GO; GO:0006357; P:regulation of transcription by RNA polymerase II; IBA:GO_Central.
DR GO; GO:0060876; P:semicircular canal formation; IMP:DFLAT.
DR GO; GO:0007605; P:sensory perception of sound; IDA:DFLAT.
DR CDD; cd00086; homeodomain; 1.
DR InterPro; IPR009057; Homeobox-like_sf.
DR InterPro; IPR017970; Homeobox_CS.
DR InterPro; IPR001356; Homeobox_dom.
DR InterPro; IPR020479; Homeobox_metazoa.
DR InterPro; IPR046327; HXA1/B1/D1.
DR PANTHER; PTHR45946; PTHR45946; 1.
DR Pfam; PF00046; Homeodomain; 1.
DR PRINTS; PR00024; HOMEOBOX.
DR SMART; SM00389; HOX; 1.
DR SUPFAM; SSF46689; SSF46689; 1.
DR PROSITE; PS00027; HOMEOBOX_1; 1.
DR PROSITE; PS50071; HOMEOBOX_2; 1.
PE 1: Evidence at protein level;
KW Alternative splicing; Autism spectrum disorder; Developmental protein;
KW DNA-binding; Homeobox; Nucleus; Reference proteome; Transcription;
KW Transcription regulation.
FT CHAIN 1..335
FT /note="Homeobox protein Hox-A1"
FT /id="PRO_0000200030"
FT DNA_BIND 229..288
FT /note="Homeobox"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00108"
FT REGION 61..83
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 75..203
FT /note="Interaction with OGT"
FT /evidence="ECO:0000250|UniProtKB:P09022"
FT REGION 281..335
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT MOTIF 204..209
FT /note="Antp-type hexapeptide"
FT COMPBIAS 62..76
FT /note="Basic residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 313..335
FT /note="Polar residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT VAR_SEQ 119..137
FT /note="VSGGYPQCAPAVYSGNLSS -> PPRSLSLPRIGDIFSSADF (in
FT isoform 1)"
FT /evidence="ECO:0000303|PubMed:7488013"
FT /id="VSP_002376"
FT VAR_SEQ 138..335
FT /note="Missing (in isoform 1)"
FT /evidence="ECO:0000303|PubMed:7488013"
FT /id="VSP_002377"
FT VAR_SEQ 219..227
FT /note="KVGEYGYLG -> QSCWLVDAP (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:7488013"
FT /id="VSP_002378"
FT VAR_SEQ 228..335
FT /note="Missing (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:7488013"
FT /id="VSP_002379"
FT VARIANT 73
FT /note="H -> R (in dbSNP:rs10951154)"
FT /evidence="ECO:0000269|PubMed:11091361,
FT ECO:0000269|PubMed:14702039"
FT /id="VAR_010305"
FT VARIANT 189
FT /note="E -> A (in dbSNP:rs17500494)"
FT /id="VAR_030576"
SQ SEQUENCE 335 AA; 36641 MW; 3C3A2D0A59A4181C CRC64;
MDNARMNSFL EYPILSSGDS GTCSARAYPS DHRITTFQSC AVSANSCGGD DRFLVGRGVQ
IGSPHHHHHH HHHHPQPATY QTSGNLGVSY SHSSCGPSYG SQNFSAPYSP YALNQEADVS
GGYPQCAPAV YSGNLSSPMV QHHHHHQGYA GGAVGSPQYI HHSYGQEHQS LALATYNNSL
SPLHASHQEA CRSPASETSS PAQTFDWMKV KRNPPKTGKV GEYGYLGQPN AVRTNFTTKQ
LTELEKEFHF NKYLTRARRV EIAASLQLNE TQVKIWFQNR RMKQKKREKE GLLPISPATP
PGNDEKAEES SEKSSSSPCV PSPGSSTSDT LTTSH
