HXA4_HUMAN
ID HXA4_HUMAN Reviewed; 320 AA.
AC Q00056; A4D180; O43366;
DT 01-DEC-1992, integrated into UniProtKB/Swiss-Prot.
DT 17-OCT-2006, sequence version 3.
DT 03-AUG-2022, entry version 192.
DE RecName: Full=Homeobox protein Hox-A4;
DE AltName: Full=Homeobox protein Hox-1.4;
DE AltName: Full=Homeobox protein Hox-1D;
GN Name=HOXA4; Synonyms=HOX1D;
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], AND VARIANTS PRO-70 AND PRO-140.
RX PubMed=1675427; DOI=10.1128/mcb.11.7.3573-3583.1991;
RA Buettner R., Yim S.O., Hong Y.S., Boncinelli E., Tainsky M.A.;
RT "Alteration of homeobox gene expression by N-ras transformation of PA-1
RT human teratocarcinoma cells.";
RL Mol. Cell. Biol. 11:3573-3583(1991).
RN [2]
RP NUCLEOTIDE SEQUENCE [MRNA].
RX PubMed=1981366; DOI=10.1111/j.1432-0436.1990.tb00458.x;
RA Peverali F.A., D'Esposito M., Acampora D., Bunone G., Negri M., Faiella A.,
RA Stornaiuolo A., Pannese M., Migliaccio E., Simeone A., Valle G.D.,
RA Boncinelli E.;
RT "Expression of HOX homeogenes in human neuroblastoma cell culture lines.";
RL Differentiation 45:61-69(1990).
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 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=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 [6]
RP NUCLEOTIDE SEQUENCE [GENOMIC DNA] OF 215-280.
RX PubMed=2576652; DOI=10.1139/g89-133;
RA Boncinelli E., Acampora D., Pannese M., D'Esposito M., Somma R.,
RA Gaudino G., Stornaiuolo A., Cafiero M., Faiella A., Simeone A.;
RT "Organization of human class I homeobox genes.";
RL Genome 31:745-756(1989).
RN [7]
RP NUCLEOTIDE SEQUENCE [GENOMIC DNA] OF 205-277.
RX PubMed=2571574; DOI=10.1016/0888-7543(89)90054-2;
RA Ferguson-Smith A.C., Fienberg A., Ruddle F.H.;
RT "Isolation, chromosomal localization, and nucleotide sequence of the human
RT HOX 1.4 homeobox.";
RL Genomics 5:250-258(1989).
RN [8]
RP VARIANT [LARGE SCALE ANALYSIS] ASP-37.
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. Binds to sites in
CC the 5'-flanking sequence of its coding region with various affinities.
CC The consensus sequences of the high and low affinity binding sites are
CC 5'-TAATGA[CG]-3' and 5'-CTAATTTT-3'.
CC -!- SUBCELLULAR LOCATION: Nucleus.
CC -!- TISSUE SPECIFICITY: Embryonic nervous system.
CC -!- SIMILARITY: Belongs to the Antp homeobox family. Deformed subfamily.
CC {ECO:0000305}.
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DR EMBL; M74297; AAA58664.1; -; mRNA.
DR EMBL; AC004080; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; CH471073; EAW93872.1; -; Genomic_DNA.
DR EMBL; CH236948; EAL24224.1; -; Genomic_DNA.
DR EMBL; M28199; AAA53290.1; -; Genomic_DNA.
DR CCDS; CCDS5405.1; -.
DR PIR; A39724; A39724.
DR RefSeq; NP_002132.3; NM_002141.4.
DR AlphaFoldDB; Q00056; -.
DR SMR; Q00056; -.
DR BioGRID; 109441; 44.
DR IntAct; Q00056; 1.
DR STRING; 9606.ENSP00000353151; -.
DR iPTMnet; Q00056; -.
DR PhosphoSitePlus; Q00056; -.
DR BioMuta; HOXA4; -.
DR DMDM; 116242514; -.
DR EPD; Q00056; -.
DR MassIVE; Q00056; -.
DR MaxQB; Q00056; -.
DR PaxDb; Q00056; -.
DR PeptideAtlas; Q00056; -.
DR PRIDE; Q00056; -.
DR ProteomicsDB; 57839; -.
DR Antibodypedia; 35236; 184 antibodies from 27 providers.
DR DNASU; 3201; -.
DR Ensembl; ENST00000360046.10; ENSP00000353151.5; ENSG00000197576.14.
DR Ensembl; ENST00000428284.2; ENSP00000408845.2; ENSG00000197576.14.
DR Ensembl; ENST00000610970.1; ENSP00000479166.1; ENSG00000197576.14.
DR GeneID; 3201; -.
DR KEGG; hsa:3201; -.
DR MANE-Select; ENST00000360046.10; ENSP00000353151.5; NM_002141.5; NP_002132.3.
DR UCSC; uc003sym.4; human.
DR CTD; 3201; -.
DR DisGeNET; 3201; -.
DR GeneCards; HOXA4; -.
DR HGNC; HGNC:5105; HOXA4.
DR HPA; ENSG00000197576; Low tissue specificity.
DR MIM; 142953; gene.
DR neXtProt; NX_Q00056; -.
DR OpenTargets; ENSG00000197576; -.
DR PharmGKB; PA29382; -.
DR VEuPathDB; HostDB:ENSG00000197576; -.
DR eggNOG; KOG0489; Eukaryota.
DR GeneTree; ENSGT00940000158988; -.
DR HOGENOM; CLU_061398_0_1_1; -.
DR InParanoid; Q00056; -.
DR OMA; DFSDGHH; -.
DR OrthoDB; 1154159at2759; -.
DR PhylomeDB; Q00056; -.
DR TreeFam; TF352857; -.
DR PathwayCommons; Q00056; -.
DR Reactome; R-HSA-5617472; Activation of anterior HOX genes in hindbrain development during early embryogenesis.
DR BioGRID-ORCS; 3201; 8 hits in 1092 CRISPR screens.
DR GeneWiki; HOXA4; -.
DR GenomeRNAi; 3201; -.
DR Pharos; Q00056; Tbio.
DR PRO; PR:Q00056; -.
DR Proteomes; UP000005640; Chromosome 7.
DR RNAct; Q00056; protein.
DR Bgee; ENSG00000197576; Expressed in esophagogastric junction muscularis propria and 82 other tissues.
DR ExpressionAtlas; Q00056; baseline and differential.
DR Genevisible; Q00056; HS.
DR GO; GO:0000785; C:chromatin; ISA:NTNU_SB.
DR GO; GO:0016604; C:nuclear body; 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:0000978; F:RNA polymerase II cis-regulatory region sequence-specific DNA binding; IBA:GO_Central.
DR GO; GO:1990837; F:sequence-specific double-stranded DNA binding; IDA:ARUK-UCL.
DR GO; GO:0009653; P:anatomical structure morphogenesis; TAS:ProtInc.
DR GO; GO:0009952; P:anterior/posterior pattern specification; IBA:GO_Central.
DR GO; GO:0048704; P:embryonic skeletal system morphogenesis; IBA:GO_Central.
DR GO; GO:0006357; P:regulation of transcription by RNA polymerase II; IBA:GO_Central.
DR CDD; cd00086; homeodomain; 1.
DR InterPro; IPR009057; Homeobox-like_sf.
DR InterPro; IPR017995; Homeobox_antennapedia.
DR InterPro; IPR001827; Homeobox_Antennapedia_CS.
DR InterPro; IPR017970; Homeobox_CS.
DR InterPro; IPR001356; Homeobox_dom.
DR InterPro; IPR020479; Homeobox_metazoa.
DR Pfam; PF00046; Homeodomain; 1.
DR PRINTS; PR00025; ANTENNAPEDIA.
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 2: Evidence at transcript level;
KW Developmental protein; DNA-binding; Homeobox; Nucleus; Reference proteome;
KW Transcription; Transcription regulation.
FT CHAIN 1..320
FT /note="Homeobox protein Hox-A4"
FT /id="PRO_0000200048"
FT DNA_BIND 215..274
FT /note="Homeobox"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00108"
FT REGION 19..77
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 101..168
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 273..320
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT MOTIF 194..199
FT /note="Antp-type hexapeptide"
FT COMPBIAS 41..55
FT /note="Pro residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 280..297
FT /note="Polar residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT VARIANT 37
FT /note="G -> D (in a breast cancer sample; somatic
FT mutation)"
FT /evidence="ECO:0000269|PubMed:16959974"
FT /id="VAR_036266"
FT VARIANT 70
FT /note="T -> P (in dbSNP:rs6944345)"
FT /evidence="ECO:0000269|PubMed:1675427"
FT /id="VAR_028414"
FT VARIANT 140
FT /note="L -> P (in dbSNP:rs10251056)"
FT /evidence="ECO:0000269|PubMed:1675427"
FT /id="VAR_028415"
FT VARIANT 178
FT /note="L -> F (in dbSNP:rs13246088)"
FT /id="VAR_028416"
FT VARIANT 251
FT /note="T -> P (in dbSNP:rs6976847)"
FT /id="VAR_028417"
FT VARIANT 317
FT /note="P -> S (in dbSNP:rs17500757)"
FT /id="VAR_028418"
FT CONFLICT 108
FT /note="A -> P (in Ref. 1; AAA58664)"
FT /evidence="ECO:0000305"
FT CONFLICT 205
FT /note="A -> S (in Ref. 7; AAA53290)"
FT /evidence="ECO:0000305"
FT CONFLICT 275..276
FT /note="KL -> NC (in Ref. 7; AAA53290)"
FT /evidence="ECO:0000305"
SQ SEQUENCE 320 AA; 34499 MW; D9B9C98901B06FE4 CRC64;
MTMSSFLINS NYIEPKFPPF EEYAQHSGSG GADGGPGGGP GYQQPPAPPT QHLPLQQPQL
PHAGGGREPT ASYYAPRTAR EPAYPAAALY PAHGAADTAY PYGYRGGASP GRPPQPEQPP
AQAKGPAHGL HASHVLQPQL PPPLQPRAVP PAAPRRCEAA PATPGVPAGG SAPACPLLLA
DKSPLGLKGK EPVVYPWMKK IHVSAVNPSY NGGEPKRSRT AYTRQQVLEL EKEFHFNRYL
TRRRRIEIAH TLCLSERQVK IWFQNRRMKW KKDHKLPNTK MRSSNSASAS AGPPGKAQTQ
SPHLHPHPHP STSTPVPSSI
