MEOX1_HUMAN
ID MEOX1_HUMAN Reviewed; 254 AA.
AC P50221; A8K524; A8MWF9; Q15069;
DT 01-OCT-1996, integrated into UniProtKB/Swiss-Prot.
DT 01-OCT-1996, sequence version 1.
DT 03-AUG-2022, entry version 186.
DE RecName: Full=Homeobox protein MOX-1;
DE AltName: Full=Mesenchyme homeobox 1;
GN Name=MEOX1; Synonyms=MOX1;
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] (ISOFORMS 1 AND 2).
RC TISSUE=Mammary gland;
RX PubMed=7987315; DOI=10.1093/hmg/3.8.1359;
RA Futreal P.A., Cochran C., Rosenthal J., Miki Y., Swenson J., Hobbs M.,
RA Bennett L.M., Haugen-Strano A., Marks J., Barrett J.C., Tavtigian S.V.,
RA Shattuck-Eidens D., Kamb A., Skolnick M., Wiseman R.W.;
RT "Isolation of a diverged homeobox gene, MOX1, from the BRCA1 region on
RT 17q21 by solution hybrid capture.";
RL Hum. Mol. Genet. 3:1359-1364(1994).
RN [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
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=16625196; DOI=10.1038/nature04689;
RA Zody M.C., Garber M., Adams D.J., Sharpe T., Harrow J., Lupski J.R.,
RA Nicholson C., Searle S.M., Wilming L., Young S.K., Abouelleil A.,
RA Allen N.R., Bi W., Bloom T., Borowsky M.L., Bugalter B.E., Butler J.,
RA Chang J.L., Chen C.-K., Cook A., Corum B., Cuomo C.A., de Jong P.J.,
RA DeCaprio D., Dewar K., FitzGerald M., Gilbert J., Gibson R., Gnerre S.,
RA Goldstein S., Grafham D.V., Grocock R., Hafez N., Hagopian D.S., Hart E.,
RA Norman C.H., Humphray S., Jaffe D.B., Jones M., Kamal M., Khodiyar V.K.,
RA LaButti K., Laird G., Lehoczky J., Liu X., Lokyitsang T., Loveland J.,
RA Lui A., Macdonald P., Major J.E., Matthews L., Mauceli E., McCarroll S.A.,
RA Mihalev A.H., Mudge J., Nguyen C., Nicol R., O'Leary S.B., Osoegawa K.,
RA Schwartz D.C., Shaw-Smith C., Stankiewicz P., Steward C., Swarbreck D.,
RA Venkataraman V., Whittaker C.A., Yang X., Zimmer A.R., Bradley A.,
RA Hubbard T., Birren B.W., Rogers J., Lander E.S., Nusbaum C.;
RT "DNA sequence of human chromosome 17 and analysis of rearrangement in the
RT human lineage.";
RL Nature 440:1045-1049(2006).
RN [4]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RA Mural R.J., Istrail S., Sutton 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 (SEP-2005) to the EMBL/GenBank/DDBJ databases.
RN [5]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
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 [6]
RP INVOLVEMENT IN KFS2, AND FUNCTION.
RX PubMed=23290072; DOI=10.1016/j.ajhg.2012.11.016;
RA Mohamed J.Y., Faqeih E., Alsiddiky A., Alshammari M.J., Ibrahim N.A.,
RA Alkuraya F.S.;
RT "Mutations in MEOX1, encoding mesenchyme homeobox 1, cause Klippel-Feil
RT anomaly.";
RL Am. J. Hum. Genet. 92:157-161(2013).
RN [7]
RP INVOLVEMENT IN KFS2, AND FUNCTION.
RX PubMed=24073994; DOI=10.1186/1471-2156-14-95;
RA Bayrakli F., Guclu B., Yakicier C., Balaban H., Kartal U., Erguner B.,
RA Sagiroglu M.S., Yuksel S., Ozturk A.R., Kazanci B., Ozum U., Kars H.Z.;
RT "Mutation in MEOX1 gene causes a recessive Klippel-Feil syndrome subtype.";
RL BMC Genet. 14:95-95(2013).
CC -!- FUNCTION: Mesodermal transcription factor that plays a key role in
CC somitogenesis and is specifically required for sclerotome development.
CC Required for maintenance of the sclerotome polarity and formation of
CC the cranio-cervical joints (PubMed:23290072, PubMed:24073994). Binds
CC specifically to the promoter of target genes and regulates their
CC expression. Activates expression of NKX3-2 in the sclerotome. Activates
CC expression of CDKN1A and CDKN2A in endothelial cells, acting as a
CC regulator of vascular cell proliferation. While it activates CDKN1A in
CC a DNA-dependent manner, it activates CDKN2A in a DNA-independent
CC manner. Required for hematopoietic stem cell (HSCs) induction via its
CC role in somitogenesis: specification of HSCs occurs via the deployment
CC of a specific endothelial precursor population, which arises within a
CC sub-compartment of the somite named endotome.
CC {ECO:0000250|UniProtKB:F1Q4R9, ECO:0000250|UniProtKB:P32442,
CC ECO:0000269|PubMed:23290072, ECO:0000269|PubMed:24073994}.
CC -!- INTERACTION:
CC P50221; K7EM05: ACBD4; NbExp=3; IntAct=EBI-2864512, EBI-16431307;
CC P50221; Q8WYK0: ACOT12; NbExp=3; IntAct=EBI-2864512, EBI-11954993;
CC P50221; P09917: ALOX5; NbExp=3; IntAct=EBI-2864512, EBI-79934;
CC P50221; Q9UJX6: ANAPC2; NbExp=3; IntAct=EBI-2864512, EBI-396211;
CC P50221; Q92870-2: APBB2; NbExp=3; IntAct=EBI-2864512, EBI-21535880;
CC P50221; Q9UKG1: APPL1; NbExp=3; IntAct=EBI-2864512, EBI-741243;
CC P50221; Q7Z3C6-3: ATG9A; NbExp=3; IntAct=EBI-2864512, EBI-12006308;
CC P50221; A0A0S2Z5G4: BANP; NbExp=3; IntAct=EBI-2864512, EBI-16429704;
CC P50221; B4DE54: BANP; NbExp=3; IntAct=EBI-2864512, EBI-16429313;
CC P50221; Q8N9N5-2: BANP; NbExp=3; IntAct=EBI-2864512, EBI-11524452;
CC P50221; Q8N9N5-7: BANP; NbExp=3; IntAct=EBI-2864512, EBI-16429296;
CC P50221; Q12982: BNIP2; NbExp=3; IntAct=EBI-2864512, EBI-752094;
CC P50221; Q13895: BYSL; NbExp=3; IntAct=EBI-2864512, EBI-358049;
CC P50221; Q9NWQ9: C14orf119; NbExp=3; IntAct=EBI-2864512, EBI-725606;
CC P50221; Q9NX04: C1orf109; NbExp=3; IntAct=EBI-2864512, EBI-8643161;
CC P50221; Q9BV19: C1orf50; NbExp=3; IntAct=EBI-2864512, EBI-2874661;
CC P50221; Q53TS8: C2CD6; NbExp=3; IntAct=EBI-2864512, EBI-739879;
CC P50221; P54284: CACNB3; NbExp=3; IntAct=EBI-2864512, EBI-1184651;
CC P50221; Q68D86: CCDC102B; NbExp=3; IntAct=EBI-2864512, EBI-10171570;
CC P50221; Q8IW40: CCDC103; NbExp=3; IntAct=EBI-2864512, EBI-10261970;
CC P50221; P49427: CDC34; NbExp=3; IntAct=EBI-2864512, EBI-975634;
CC P50221; O76071: CIAO1; NbExp=3; IntAct=EBI-2864512, EBI-725145;
CC P50221; Q96Q77: CIB3; NbExp=3; IntAct=EBI-2864512, EBI-10292696;
CC P50221; P61024: CKS1B; NbExp=6; IntAct=EBI-2864512, EBI-456371;
CC P50221; Q9UKZ1: CNOT11; NbExp=3; IntAct=EBI-2864512, EBI-2562014;
CC P50221; P68400: CSNK2A1; NbExp=3; IntAct=EBI-2864512, EBI-347804;
CC P50221; Q2TBE0: CWF19L2; NbExp=6; IntAct=EBI-2864512, EBI-5453285;
CC P50221; O43602: DCX; NbExp=3; IntAct=EBI-2864512, EBI-8646694;
CC P50221; O43602-2: DCX; NbExp=3; IntAct=EBI-2864512, EBI-14148644;
CC P50221; G5E9A7: DMWD; NbExp=3; IntAct=EBI-2864512, EBI-10976677;
CC P50221; P51452: DUSP3; NbExp=3; IntAct=EBI-2864512, EBI-1049755;
CC P50221; P38919: EIF4A3; NbExp=3; IntAct=EBI-2864512, EBI-299104;
CC P50221; Q13541: EIF4EBP1; NbExp=3; IntAct=EBI-2864512, EBI-74090;
CC P50221; P50402: EMD; NbExp=3; IntAct=EBI-2864512, EBI-489887;
CC P50221; Q8IXS8: FAM126B; NbExp=3; IntAct=EBI-2864512, EBI-8787606;
CC P50221; Q96CN9: GCC1; NbExp=3; IntAct=EBI-2864512, EBI-746252;
CC P50221; O14893: GEMIN2; NbExp=3; IntAct=EBI-2864512, EBI-443648;
CC P50221; O95872: GPANK1; NbExp=3; IntAct=EBI-2864512, EBI-751540;
CC P50221; P13807: GYS1; NbExp=3; IntAct=EBI-2864512, EBI-740553;
CC P50221; Q6NT76: HMBOX1; NbExp=3; IntAct=EBI-2864512, EBI-2549423;
CC P50221; O15347: HMGB3; NbExp=3; IntAct=EBI-2864512, EBI-2214136;
CC P50221; Q9NSC5: HOMER3; NbExp=3; IntAct=EBI-2864512, EBI-748420;
CC P50221; P31273: HOXC8; NbExp=3; IntAct=EBI-2864512, EBI-1752118;
CC P50221; P42858: HTT; NbExp=19; IntAct=EBI-2864512, EBI-466029;
CC P50221; Q15735: INPP5J; NbExp=3; IntAct=EBI-2864512, EBI-10236940;
CC P50221; Q63ZY3: KANK2; NbExp=3; IntAct=EBI-2864512, EBI-2556193;
CC P50221; Q96MP8-2: KCTD7; NbExp=3; IntAct=EBI-2864512, EBI-11954971;
CC P50221; Q969R5: L3MBTL2; NbExp=3; IntAct=EBI-2864512, EBI-739909;
CC P50221; P45984: MAPK9; NbExp=7; IntAct=EBI-2864512, EBI-713568;
CC P50221; O95983-2: MBD3; NbExp=3; IntAct=EBI-2864512, EBI-11978579;
CC P50221; Q96EZ8: MCRS1; NbExp=3; IntAct=EBI-2864512, EBI-348259;
CC P50221; Q02078-2: MEF2A; NbExp=3; IntAct=EBI-2864512, EBI-16431401;
CC P50221; O15344: MID1; NbExp=7; IntAct=EBI-2864512, EBI-2340316;
CC P50221; Q9UJV3-2: MID2; NbExp=3; IntAct=EBI-2864512, EBI-10172526;
CC P50221; Q13064: MKRN3; NbExp=3; IntAct=EBI-2864512, EBI-2340269;
CC P50221; Q9UH92-3: MLX; NbExp=3; IntAct=EBI-2864512, EBI-8852072;
CC P50221; Q9UBU8: MORF4L1; NbExp=3; IntAct=EBI-2864512, EBI-399246;
CC P50221; Q9UJ70: NAGK; NbExp=3; IntAct=EBI-2864512, EBI-372578;
CC P50221; Q9UHB4: NDOR1; NbExp=3; IntAct=EBI-2864512, EBI-10249760;
CC P50221; Q969S2: NEIL2; NbExp=6; IntAct=EBI-2864512, EBI-10281234;
CC P50221; Q9UJX0: OSGIN1; NbExp=3; IntAct=EBI-2864512, EBI-9057006;
CC P50221; Q5JUK9: PAGE3; NbExp=3; IntAct=EBI-2864512, EBI-10244544;
CC P50221; Q9HBI0: PARVG; NbExp=3; IntAct=EBI-2864512, EBI-3921217;
CC P50221; Q8IVA1: PCP2; NbExp=3; IntAct=EBI-2864512, EBI-12250122;
CC P50221; Q08493-2: PDE4C; NbExp=3; IntAct=EBI-2864512, EBI-12169289;
CC P50221; Q9HAT8: PELI2; NbExp=3; IntAct=EBI-2864512, EBI-448407;
CC P50221; Q7Z412: PEX26; NbExp=3; IntAct=EBI-2864512, EBI-752057;
CC P50221; Q13526: PIN1; NbExp=3; IntAct=EBI-2864512, EBI-714158;
CC P50221; Q9BRC7: PLCD4; NbExp=3; IntAct=EBI-2864512, EBI-748799;
CC P50221; Q8IYS1: PM20D2; NbExp=3; IntAct=EBI-2864512, EBI-11339910;
CC P50221; Q9BT43: POLR3GL; NbExp=3; IntAct=EBI-2864512, EBI-2855862;
CC P50221; Q6IPC0: PPM1F; NbExp=3; IntAct=EBI-2864512, EBI-11993088;
CC P50221; P54619: PRKAG1; NbExp=3; IntAct=EBI-2864512, EBI-1181439;
CC P50221; Q2TAL8: QRICH1; NbExp=3; IntAct=EBI-2864512, EBI-2798044;
CC P50221; P43351: RAD52; NbExp=3; IntAct=EBI-2864512, EBI-706448;
CC P50221; Q96IZ5: RBM41; NbExp=3; IntAct=EBI-2864512, EBI-740773;
CC P50221; P52756: RBM5; NbExp=4; IntAct=EBI-2864512, EBI-714003;
CC P50221; O00560: SDCBP; NbExp=3; IntAct=EBI-2864512, EBI-727004;
CC P50221; Q9UDX3: SEC14L4; NbExp=3; IntAct=EBI-2864512, EBI-10320311;
CC P50221; Q99932-2: SPAG8; NbExp=3; IntAct=EBI-2864512, EBI-11959123;
CC P50221; Q8N5J4: SPIC; NbExp=3; IntAct=EBI-2864512, EBI-12261246;
CC P50221; Q7Z699: SPRED1; NbExp=3; IntAct=EBI-2864512, EBI-5235340;
CC P50221; Q9BSW7: SYT17; NbExp=3; IntAct=EBI-2864512, EBI-745392;
CC P50221; Q8N8B7: TCEANC; NbExp=3; IntAct=EBI-2864512, EBI-954696;
CC P50221; Q9NUJ3: TCP11L1; NbExp=3; IntAct=EBI-2864512, EBI-2555179;
CC P50221; O43247-2: TEX33; NbExp=3; IntAct=EBI-2864512, EBI-12093053;
CC P50221; Q9UL33-2: TRAPPC2L; NbExp=3; IntAct=EBI-2864512, EBI-11119202;
CC P50221; Q8WV44: TRIM41; NbExp=3; IntAct=EBI-2864512, EBI-725997;
CC P50221; Q8N7C3: TRIML2; NbExp=3; IntAct=EBI-2864512, EBI-11059915;
CC P50221; Q15642-2: TRIP10; NbExp=3; IntAct=EBI-2864512, EBI-6550597;
CC P50221; P40222: TXLNA; NbExp=3; IntAct=EBI-2864512, EBI-359793;
CC P50221; Q9NX01: TXNL4B; NbExp=3; IntAct=EBI-2864512, EBI-10309345;
CC P50221; Q712K3: UBE2R2; NbExp=6; IntAct=EBI-2864512, EBI-2340879;
CC P50221; Q14CS0: UBXN2B; NbExp=3; IntAct=EBI-2864512, EBI-1993619;
CC P50221; O94888: UBXN7; NbExp=3; IntAct=EBI-2864512, EBI-1993627;
CC P50221; Q9H3U1: UNC45A; NbExp=3; IntAct=EBI-2864512, EBI-1048763;
CC P50221; Q8TBK6: ZCCHC10; NbExp=3; IntAct=EBI-2864512, EBI-597063;
CC P50221; Q86VK4-3: ZNF410; NbExp=3; IntAct=EBI-2864512, EBI-11741890;
CC P50221; A0A384ME25; NbExp=3; IntAct=EBI-2864512, EBI-10211777;
CC -!- SUBCELLULAR LOCATION: Nucleus {ECO:0000250|UniProtKB:P32442}. Cytoplasm
CC {ECO:0000250|UniProtKB:P32442}. Note=Localizes predominantly in the
CC nucleus. {ECO:0000250|UniProtKB:P32442}.
CC -!- ALTERNATIVE PRODUCTS:
CC Event=Alternative splicing; Named isoforms=3;
CC Name=1;
CC IsoId=P50221-1; Sequence=Displayed;
CC Name=2;
CC IsoId=P50221-2; Sequence=VSP_043340;
CC Name=3;
CC IsoId=P50221-3; Sequence=VSP_046700;
CC -!- DISEASE: Klippel-Feil syndrome 2, autosomal recessive (KFS2)
CC [MIM:214300]: A skeletal disorder characterized by congenital fusion of
CC cervical vertebrae. It is due to a failure in the normal segmentation
CC of vertebrae during the early weeks of fetal development. The clinical
CC triad consists of short neck, low posterior hairline, and limited neck
CC movement. {ECO:0000269|PubMed:23290072, ECO:0000269|PubMed:24073994}.
CC Note=The disease is caused by variants affecting the gene represented
CC in this entry.
CC ---------------------------------------------------------------------------
CC Copyrighted by the UniProt Consortium, see https://www.uniprot.org/terms
CC Distributed under the Creative Commons Attribution (CC BY 4.0) License
CC ---------------------------------------------------------------------------
DR EMBL; U10492; AAA19983.1; -; mRNA.
DR EMBL; U10493; AAA19984.1; -; mRNA.
DR EMBL; AK291139; BAF83828.1; -; mRNA.
DR EMBL; AC004149; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; AC068675; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; CH471178; EAW51672.1; -; Genomic_DNA.
DR EMBL; BC069474; AAH69474.1; -; mRNA.
DR EMBL; BC069506; AAH69506.1; -; mRNA.
DR CCDS; CCDS11466.1; -. [P50221-1]
DR CCDS; CCDS11467.1; -. [P50221-2]
DR CCDS; CCDS42343.1; -. [P50221-3]
DR PIR; I38034; I38034.
DR RefSeq; NP_001035091.1; NM_001040002.1. [P50221-3]
DR RefSeq; NP_004518.1; NM_004527.3. [P50221-1]
DR RefSeq; NP_054705.1; NM_013999.3. [P50221-2]
DR AlphaFoldDB; P50221; -.
DR SMR; P50221; -.
DR BioGRID; 110385; 105.
DR IntAct; P50221; 108.
DR MINT; P50221; -.
DR STRING; 9606.ENSP00000321684; -.
DR iPTMnet; P50221; -.
DR PhosphoSitePlus; P50221; -.
DR BioMuta; MEOX1; -.
DR DMDM; 1709078; -.
DR MassIVE; P50221; -.
DR PaxDb; P50221; -.
DR PeptideAtlas; P50221; -.
DR PRIDE; P50221; -.
DR ProteomicsDB; 2245; -.
DR ProteomicsDB; 56204; -. [P50221-1]
DR ProteomicsDB; 56205; -. [P50221-2]
DR Antibodypedia; 17286; 416 antibodies from 31 providers.
DR DNASU; 4222; -.
DR Ensembl; ENST00000318579.9; ENSP00000321684.4; ENSG00000005102.14. [P50221-1]
DR Ensembl; ENST00000393661.2; ENSP00000377271.2; ENSG00000005102.14. [P50221-3]
DR Ensembl; ENST00000549132.2; ENSP00000449049.2; ENSG00000005102.14. [P50221-2]
DR GeneID; 4222; -.
DR KEGG; hsa:4222; -.
DR MANE-Select; ENST00000318579.9; ENSP00000321684.4; NM_004527.4; NP_004518.1.
DR UCSC; uc002idz.4; human. [P50221-1]
DR CTD; 4222; -.
DR DisGeNET; 4222; -.
DR GeneCards; MEOX1; -.
DR HGNC; HGNC:7013; MEOX1.
DR HPA; ENSG00000005102; Tissue enhanced (adipose tissue, breast).
DR MalaCards; MEOX1; -.
DR MIM; 214300; phenotype.
DR MIM; 600147; gene.
DR neXtProt; NX_P50221; -.
DR OpenTargets; ENSG00000005102; -.
DR Orphanet; 2345; Isolated Klippel-Feil syndrome.
DR PharmGKB; PA30747; -.
DR VEuPathDB; HostDB:ENSG00000005102; -.
DR eggNOG; KOG0489; Eukaryota.
DR GeneTree; ENSGT00940000154018; -.
DR HOGENOM; CLU_081326_1_0_1; -.
DR InParanoid; P50221; -.
DR OMA; CMRSPQP; -.
DR OrthoDB; 1522857at2759; -.
DR PhylomeDB; P50221; -.
DR TreeFam; TF351603; -.
DR PathwayCommons; P50221; -.
DR SignaLink; P50221; -.
DR SIGNOR; P50221; -.
DR BioGRID-ORCS; 4222; 9 hits in 1091 CRISPR screens.
DR GeneWiki; MEOX1; -.
DR GenomeRNAi; 4222; -.
DR Pharos; P50221; Tbio.
DR PRO; PR:P50221; -.
DR Proteomes; UP000005640; Chromosome 17.
DR RNAct; P50221; protein.
DR Bgee; ENSG00000005102; Expressed in tendon of biceps brachii and 137 other tissues.
DR Genevisible; P50221; HS.
DR GO; GO:0000785; C:chromatin; ISA:NTNU_SB.
DR GO; GO:0005737; C:cytoplasm; ISS:UniProtKB.
DR GO; GO:0005634; C:nucleus; ISS:UniProtKB.
DR GO; GO:0003682; F:chromatin binding; IEA:Ensembl.
DR GO; GO:0001228; F:DNA-binding transcription activator activity, RNA polymerase II-specific; IEA:Ensembl.
DR GO; GO:0003700; F:DNA-binding transcription factor activity; ISS:UniProtKB.
DR GO; GO:0000981; F:DNA-binding transcription factor activity, RNA polymerase II-specific; ISA:NTNU_SB.
DR GO; GO:0071837; F:HMG box domain binding; IEA:Ensembl.
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; ISS:UniProtKB.
DR GO; GO:1990837; F:sequence-specific double-stranded DNA binding; IDA:ARUK-UCL.
DR GO; GO:0060218; P:hematopoietic stem cell differentiation; ISS:UniProtKB.
DR GO; GO:0006357; P:regulation of transcription by RNA polymerase II; IBA:GO_Central.
DR GO; GO:0061056; P:sclerotome development; ISS:UniProtKB.
DR GO; GO:0061053; P:somite development; ISS:UniProtKB.
DR GO; GO:0001757; P:somite specification; IEA:Ensembl.
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; IPR042634; MOX-1/MOX-2.
DR PANTHER; PTHR24328; PTHR24328; 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 Activator; Alternative splicing; Cytoplasm; Developmental protein;
KW DNA-binding; Homeobox; Nucleus; Reference proteome; Repressor;
KW Transcription; Transcription regulation.
FT CHAIN 1..254
FT /note="Homeobox protein MOX-1"
FT /id="PRO_0000049195"
FT DNA_BIND 171..230
FT /note="Homeobox"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00108"
FT REGION 86..178
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 227..254
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 144..178
FT /note="Basic and acidic residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 240..254
FT /note="Polar residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT VAR_SEQ 1..115
FT /note="Missing (in isoform 3)"
FT /evidence="ECO:0000305"
FT /id="VSP_046700"
FT VAR_SEQ 157..254
FT /note="DNQENRGKPEGSSKARKERTAFTKEQLRELEAEFAHHNYLTRLRRYEIAVNL
FT DLSERQVKVWFQNRRMKWKRVKGGQPISPNGQDPEDGDSTASPSSE -> GQSVVPEPK
FT DEVEACEGRSAHLPQWAGP (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:7987315"
FT /id="VSP_043340"
FT VARIANT 27
FT /note="S -> L (in dbSNP:rs9898682)"
FT /id="VAR_049584"
FT CONFLICT 69
FT /note="A -> G (in Ref. 2; BAF83828)"
SQ SEQUENCE 254 AA; 27997 MW; A53724BF77C02166 CRC64;
MDPAASSCMR SLQPPAPVWG CLRNPHSEGN GASGLPHYPP TPFSFHQKPD FLATATAAYP
DFSASCLAAT PHSLPQEEHI FTEQHPAFPQ SPNWHFPVSD ARRRPNSGPA GGSKEMGTSS
LGLVDTTGGP GDDYGVLGST ANETEKKSSR RRKESSDNQE NRGKPEGSSK ARKERTAFTK
EQLRELEAEF AHHNYLTRLR RYEIAVNLDL SERQVKVWFQ NRRMKWKRVK GGQPISPNGQ
DPEDGDSTAS PSSE
