HXA3_HUMAN
ID HXA3_HUMAN Reviewed; 443 AA.
AC O43365; A4D181;
DT 15-JUL-1999, integrated into UniProtKB/Swiss-Prot.
DT 01-JUN-1998, sequence version 1.
DT 03-AUG-2022, entry version 189.
DE RecName: Full=Homeobox protein Hox-A3;
DE AltName: Full=Homeobox protein Hox-1E;
GN Name=HOXA3; Synonyms=HOX1E;
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 [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 [2]
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 [3]
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 [4]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
RC TISSUE=Uterus;
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 [5]
RP VARIANTS [LARGE SCALE ANALYSIS] ASN-42 AND THR-131.
RX PubMed=16959974; DOI=10.1126/science.1133427;
RA Sjoeblom T., Jones S., Wood L.D., Parsons D.W., Lin J., Barber T.D.,
RA Mandelker D., Leary R.J., Ptak J., Silliman N., Szabo S., Buckhaults P.,
RA Farrell C., Meeh P., Markowitz S.D., Willis J., Dawson D., Willson J.K.V.,
RA Gazdar A.F., Hartigan J., Wu L., Liu C., Parmigiani G., Park B.H.,
RA Bachman K.E., Papadopoulos N., Vogelstein B., Kinzler K.W.,
RA Velculescu V.E.;
RT "The consensus coding sequences of human breast and colorectal cancers.";
RL Science 314:268-274(2006).
CC -!- FUNCTION: Sequence-specific transcription factor which is part of a
CC developmental regulatory system that provides cells with specific
CC positional identities on the anterior-posterior axis.
CC -!- INTERACTION:
CC O43365; O15145: ARPC3; NbExp=6; IntAct=EBI-8643838, EBI-351829;
CC O43365; P23560-2: BDNF; NbExp=3; IntAct=EBI-8643838, EBI-12275524;
CC O43365; Q15437: SEC23B; NbExp=4; IntAct=EBI-8643838, EBI-742673;
CC -!- SUBCELLULAR LOCATION: Nucleus.
CC -!- SIMILARITY: Belongs to the Antp homeobox family. {ECO:0000305}.
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; AC004079; AAS00376.1; -; Genomic_DNA.
DR EMBL; CH236948; EAL24225.1; -; Genomic_DNA.
DR EMBL; CH471073; EAW93865.1; -; Genomic_DNA.
DR EMBL; BC015180; AAH15180.1; -; mRNA.
DR CCDS; CCDS5404.1; -.
DR RefSeq; NP_109377.1; NM_030661.4.
DR RefSeq; NP_705895.1; NM_153631.2.
DR RefSeq; XP_005249787.1; XM_005249730.2.
DR RefSeq; XP_005249788.1; XM_005249731.2.
DR RefSeq; XP_005249789.1; XM_005249732.3.
DR RefSeq; XP_006715778.1; XM_006715715.2.
DR RefSeq; XP_011513645.1; XM_011515343.2.
DR AlphaFoldDB; O43365; -.
DR SMR; O43365; -.
DR BioGRID; 109440; 13.
DR IntAct; O43365; 11.
DR MINT; O43365; -.
DR STRING; 9606.ENSP00000484411; -.
DR iPTMnet; O43365; -.
DR PhosphoSitePlus; O43365; -.
DR BioMuta; HOXA3; -.
DR jPOST; O43365; -.
DR MassIVE; O43365; -.
DR MaxQB; O43365; -.
DR PaxDb; O43365; -.
DR PeptideAtlas; O43365; -.
DR PRIDE; O43365; -.
DR ProteomicsDB; 48912; -.
DR Antibodypedia; 12366; 204 antibodies from 23 providers.
DR DNASU; 3200; -.
DR Ensembl; ENST00000317201.7; ENSP00000324884.2; ENSG00000105997.23.
DR Ensembl; ENST00000396352.8; ENSP00000379640.3; ENSG00000105997.23.
DR Ensembl; ENST00000612286.5; ENSP00000484411.1; ENSG00000105997.23.
DR GeneID; 3200; -.
DR KEGG; hsa:3200; -.
DR MANE-Select; ENST00000612286.5; ENSP00000484411.1; NM_153631.3; NP_705895.1.
DR UCSC; uc003syk.3; human.
DR CTD; 3200; -.
DR DisGeNET; 3200; -.
DR GeneCards; HOXA3; -.
DR HGNC; HGNC:5104; HOXA3.
DR HPA; ENSG00000105997; Low tissue specificity.
DR MIM; 142954; gene.
DR neXtProt; NX_O43365; -.
DR OpenTargets; ENSG00000105997; -.
DR PharmGKB; PA29381; -.
DR VEuPathDB; HostDB:ENSG00000105997; -.
DR eggNOG; KOG0489; Eukaryota.
DR GeneTree; ENSGT00940000159522; -.
DR HOGENOM; CLU_051508_1_0_1; -.
DR InParanoid; O43365; -.
DR OMA; SHHPSQG; -.
DR OrthoDB; 934469at2759; -.
DR PhylomeDB; O43365; -.
DR TreeFam; TF315938; -.
DR PathwayCommons; O43365; -.
DR Reactome; R-HSA-5617472; Activation of anterior HOX genes in hindbrain development during early embryogenesis.
DR SignaLink; O43365; -.
DR BioGRID-ORCS; 3200; 14 hits in 1094 CRISPR screens.
DR ChiTaRS; HOXA3; human.
DR GeneWiki; HOXA3; -.
DR GenomeRNAi; 3200; -.
DR Pharos; O43365; Tbio.
DR PRO; PR:O43365; -.
DR Proteomes; UP000005640; Chromosome 7.
DR RNAct; O43365; protein.
DR Bgee; ENSG00000105997; Expressed in caput epididymis and 145 other tissues.
DR ExpressionAtlas; O43365; baseline and differential.
DR Genevisible; O43365; HS.
DR GO; GO:0000785; C:chromatin; ISA:NTNU_SB.
DR GO; GO:0005654; C:nucleoplasm; IDA:HPA.
DR GO; GO:0005634; C:nucleus; IBA:GO_Central.
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:0001525; P:angiogenesis; IEP:UniProtKB.
DR GO; GO:0048645; P:animal organ formation; IEA:Ensembl.
DR GO; GO:0009952; P:anterior/posterior pattern specification; IBA:GO_Central.
DR GO; GO:0001974; P:blood vessel remodeling; IEA:Ensembl.
DR GO; GO:0051216; P:cartilage development; IEA:Ensembl.
DR GO; GO:0048704; P:embryonic skeletal system morphogenesis; IBA:GO_Central.
DR GO; GO:0010467; P:gene expression; IEA:Ensembl.
DR GO; GO:0021615; P:glossopharyngeal nerve morphogenesis; IEA:Ensembl.
DR GO; GO:0060017; P:parathyroid gland development; IEA:Ensembl.
DR GO; GO:2000648; P:positive regulation of stem cell proliferation; IEA:Ensembl.
DR GO; GO:0006357; P:regulation of transcription by RNA polymerase II; IBA:GO_Central.
DR GO; GO:0010159; P:specification of animal organ position; IEA:Ensembl.
DR GO; GO:0072089; P:stem cell proliferation; IEA:Ensembl.
DR GO; GO:0048538; P:thymus development; IEA:Ensembl.
DR GO; GO:0030878; P:thyroid gland development; IEA:Ensembl.
DR CDD; cd00086; homeodomain; 1.
DR InterPro; IPR025281; DUF4074.
DR InterPro; IPR009057; Homeobox-like_sf.
DR InterPro; IPR001827; Homeobox_Antennapedia_CS.
DR InterPro; IPR017970; Homeobox_CS.
DR InterPro; IPR001356; Homeobox_dom.
DR InterPro; IPR020479; Homeobox_metazoa.
DR Pfam; PF13293; DUF4074; 1.
DR Pfam; PF00046; Homeodomain; 1.
DR PRINTS; PR00024; HOMEOBOX.
DR SMART; SM00389; HOX; 1.
DR SUPFAM; SSF46689; SSF46689; 1.
DR PROSITE; PS00032; ANTENNAPEDIA; 1.
DR PROSITE; PS00027; HOMEOBOX_1; 1.
DR PROSITE; PS50071; HOMEOBOX_2; 1.
PE 1: Evidence at protein level;
KW Developmental protein; DNA-binding; Homeobox; Nucleus; Reference proteome;
KW Transcription; Transcription regulation.
FT CHAIN 1..443
FT /note="Homeobox protein Hox-A3"
FT /id="PRO_0000200043"
FT DNA_BIND 191..250
FT /note="Homeobox"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00108"
FT REGION 75..147
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 159..196
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 247..338
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 400..443
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT MOTIF 155..160
FT /note="Antp-type hexapeptide"
FT COMPBIAS 81..128
FT /note="Pro residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 129..147
FT /note="Polar residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 289..307
FT /note="Pro residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 314..328
FT /note="Pro residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT VARIANT 42
FT /note="D -> N (in a breast cancer sample; somatic mutation;
FT dbSNP:rs764656757)"
FT /evidence="ECO:0000269|PubMed:16959974"
FT /id="VAR_036264"
FT VARIANT 131
FT /note="A -> T (in a breast cancer sample; somatic
FT mutation)"
FT /evidence="ECO:0000269|PubMed:16959974"
FT /id="VAR_036265"
SQ SEQUENCE 443 AA; 46369 MW; 365C93E65CA8E8FE CRC64;
MQKATYYDSS AIYGGYPYQA ANGFAYNANQ QPYPASAALG ADGEYHRPAC SLQSPSSAGG
HPKAHELSEA CLRTLSAPPS QPPSLGEPPL HPPPPQAAPP APQPPQPAPQ PPAPTPAAPP
PPSSASPPQN ASNNPTPANA AKSPLLNSPT VAKQIFPWMK ESRQNTKQKT SSSSSGESCA
GDKSPPGQAS SKRARTAYTS AQLVELEKEF HFNRYLCRPR RVEMANLLNL TERQIKIWFQ
NRRMKYKKDQ KGKGMLTSSG GQSPSRSPVP PGAGGYLNSM HSLVNSVPYE PQSPPPFSKP
PQGTYGLPPA SYPASLPSCA PPPPPQKRYT AAGAGAGGTP DYDPHAHGLQ GNGSYGTPHI
QGSPVFVGGS YVEPMSNSGP ALFGLTHLPH AASGAMDYGG AGPLGSGHHH GPGPGEPHPT
YTDLTGHHPS QGRIQEAPKL THL
