HXD3_HUMAN
ID HXD3_HUMAN Reviewed; 432 AA.
AC P31249; Q99955; Q9BSC5;
DT 01-JUL-1993, integrated into UniProtKB/Swiss-Prot.
DT 03-MAR-2009, sequence version 3.
DT 03-AUG-2022, entry version 209.
DE RecName: Full=Homeobox protein Hox-D3;
DE AltName: Full=Homeobox protein Hox-4A;
GN Name=HOXD3; Synonyms=HOX1D, HOX4A;
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 [GENOMIC DNA].
RX PubMed=1358204; DOI=10.1016/0167-4781(92)90173-w;
RA Taniguchi Y., Fujii A., Moriuchi T.;
RT "Cloning and sequencing of the human homeobox gene HOX4A.";
RL Biochim. Biophys. Acta 1132:332-334(1992).
RN [2]
RP NUCLEOTIDE SEQUENCE [GENOMIC DNA].
RA Cianetti L.;
RL Submitted (DEC-1996) to the EMBL/GenBank/DDBJ databases.
RN [3]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RX PubMed=15815621; DOI=10.1038/nature03466;
RA Hillier L.W., Graves T.A., Fulton R.S., Fulton L.A., Pepin K.H., Minx P.,
RA Wagner-McPherson C., Layman D., Wylie K., Sekhon M., Becker M.C.,
RA Fewell G.A., Delehaunty K.D., Miner T.L., Nash W.E., Kremitzki C., Oddy L.,
RA Du H., Sun H., Bradshaw-Cordum H., Ali J., Carter J., Cordes M., Harris A.,
RA Isak A., van Brunt A., Nguyen C., Du F., Courtney L., Kalicki J.,
RA Ozersky P., Abbott S., Armstrong J., Belter E.A., Caruso L., Cedroni M.,
RA Cotton M., Davidson T., Desai A., Elliott G., Erb T., Fronick C., Gaige T.,
RA Haakenson W., Haglund K., Holmes A., Harkins R., Kim K., Kruchowski S.S.,
RA Strong C.M., Grewal N., Goyea E., Hou S., Levy A., Martinka S., Mead K.,
RA McLellan M.D., Meyer R., Randall-Maher J., Tomlinson C.,
RA Dauphin-Kohlberg S., Kozlowicz-Reilly A., Shah N., Swearengen-Shahid S.,
RA Snider J., Strong J.T., Thompson J., Yoakum M., Leonard S., Pearman C.,
RA Trani L., Radionenko M., Waligorski J.E., Wang C., Rock S.M.,
RA Tin-Wollam A.-M., Maupin R., Latreille P., Wendl M.C., Yang S.-P., Pohl C.,
RA Wallis J.W., Spieth J., Bieri T.A., Berkowicz N., Nelson J.O., Osborne J.,
RA Ding L., Meyer R., Sabo A., Shotland Y., Sinha P., Wohldmann P.E.,
RA Cook L.L., Hickenbotham M.T., Eldred J., Williams D., Jones T.A., She X.,
RA Ciccarelli F.D., Izaurralde E., Taylor J., Schmutz J., Myers R.M.,
RA Cox D.R., Huang X., McPherson J.D., Mardis E.R., Clifton S.W., Warren W.C.,
RA Chinwalla A.T., Eddy S.R., Marra M.A., Ovcharenko I., Furey T.S.,
RA Miller W., Eichler E.E., Bork P., Suyama M., Torrents D., Waterston R.H.,
RA Wilson R.K.;
RT "Generation and annotation of the DNA sequences of human chromosomes 2 and
RT 4.";
RL Nature 434:724-731(2005).
RN [4]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
RC TISSUE=Brain, and Lung;
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 NUCLEOTIDE SEQUENCE [GENOMIC DNA] OF 194-259.
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).
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 P31249; P31273: HOXC8; NbExp=3; IntAct=EBI-3957655, EBI-1752118;
CC P31249; Q86VF2-5: IGFN1; NbExp=3; IntAct=EBI-3957655, EBI-11955401;
CC P31249; Q8NI38: NFKBID; NbExp=3; IntAct=EBI-3957655, EBI-10271199;
CC P31249; Q96GM5: SMARCD1; NbExp=3; IntAct=EBI-3957655, EBI-358489;
CC P31249; P09022: Hoxa1; Xeno; NbExp=3; IntAct=EBI-3957655, EBI-3957603;
CC -!- SUBCELLULAR LOCATION: Nucleus.
CC -!- SIMILARITY: Belongs to the Antp homeobox family. {ECO:0000305}.
CC -!- CAUTION: It is uncertain whether Met-1 or Met-17 is the initiator.
CC {ECO:0000305}.
CC -!- SEQUENCE CAUTION:
CC Sequence=BAA01891.1; Type=Erroneous initiation; Evidence={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; D11117; BAA01891.1; ALT_INIT; Genomic_DNA.
DR EMBL; Y09980; CAA71102.1; -; Genomic_DNA.
DR EMBL; AC009336; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; BC005124; AAH05124.1; -; mRNA.
DR EMBL; BC008789; AAH08789.1; -; mRNA.
DR CCDS; CCDS2270.1; -.
DR PIR; S15548; S15548.
DR PIR; S27198; S27198.
DR RefSeq; NP_008829.3; NM_006898.4.
DR RefSeq; XP_005246566.1; XM_005246509.3.
DR RefSeq; XP_005246567.1; XM_005246510.4.
DR RefSeq; XP_005246568.1; XM_005246511.3.
DR RefSeq; XP_005246570.1; XM_005246513.4.
DR RefSeq; XP_006712540.1; XM_006712477.2.
DR RefSeq; XP_011509367.1; XM_011511065.2.
DR RefSeq; XP_011509368.1; XM_011511066.2.
DR AlphaFoldDB; P31249; -.
DR SMR; P31249; -.
DR BioGRID; 109472; 13.
DR IntAct; P31249; 8.
DR MINT; P31249; -.
DR STRING; 9606.ENSP00000386498; -.
DR iPTMnet; P31249; -.
DR PhosphoSitePlus; P31249; -.
DR BioMuta; HOXD3; -.
DR DMDM; 224471887; -.
DR MassIVE; P31249; -.
DR PaxDb; P31249; -.
DR PeptideAtlas; P31249; -.
DR PRIDE; P31249; -.
DR ProteomicsDB; 54765; -.
DR Antibodypedia; 19525; 211 antibodies from 24 providers.
DR DNASU; 3232; -.
DR Ensembl; ENST00000249440.4; ENSP00000249440.2; ENSG00000128652.12.
DR Ensembl; ENST00000410016.5; ENSP00000386498.1; ENSG00000128652.12.
DR Ensembl; ENST00000683222.1; ENSP00000507129.1; ENSG00000128652.12.
DR GeneID; 3232; -.
DR KEGG; hsa:3232; -.
DR MANE-Select; ENST00000683222.1; ENSP00000507129.1; NM_006898.5; NP_008829.3.
DR UCSC; uc002ukt.2; human.
DR CTD; 3232; -.
DR DisGeNET; 3232; -.
DR GeneCards; HOXD3; -.
DR HGNC; HGNC:5137; HOXD3.
DR HPA; ENSG00000128652; Tissue enriched (epididymis).
DR MIM; 142980; gene.
DR neXtProt; NX_P31249; -.
DR OpenTargets; ENSG00000128652; -.
DR PharmGKB; PA29411; -.
DR VEuPathDB; HostDB:ENSG00000128652; -.
DR eggNOG; KOG0489; Eukaryota.
DR GeneTree; ENSGT00940000160027; -.
DR HOGENOM; CLU_051508_1_0_1; -.
DR InParanoid; P31249; -.
DR OMA; KTAYYDN; -.
DR OrthoDB; 934469at2759; -.
DR PhylomeDB; P31249; -.
DR TreeFam; TF315938; -.
DR PathwayCommons; P31249; -.
DR Reactome; R-HSA-5617472; Activation of anterior HOX genes in hindbrain development during early embryogenesis.
DR SignaLink; P31249; -.
DR SIGNOR; P31249; -.
DR BioGRID-ORCS; 3232; 11 hits in 1095 CRISPR screens.
DR GeneWiki; HOXD3; -.
DR GenomeRNAi; 3232; -.
DR Pharos; P31249; Tbio.
DR PRO; PR:P31249; -.
DR Proteomes; UP000005640; Chromosome 2.
DR RNAct; P31249; protein.
DR Bgee; ENSG00000128652; Expressed in corpus epididymis and 105 other tissues.
DR ExpressionAtlas; P31249; baseline and differential.
DR Genevisible; P31249; HS.
DR GO; GO:0016235; C:aggresome; IDA:HPA.
DR GO; GO:0000785; C:chromatin; ISA:NTNU_SB.
DR GO; GO:0016604; C:nuclear body; IDA:HPA.
DR GO; GO:0005654; C:nucleoplasm; IDA:HPA.
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:0000978; F:RNA polymerase II cis-regulatory region sequence-specific DNA binding; IBA:GO_Central.
DR GO; GO:0000977; F:RNA polymerase II transcription regulatory region sequence-specific DNA binding; IDA:NTNU_SB.
DR GO; GO:1990837; F:sequence-specific double-stranded DNA binding; IDA:ARUK-UCL.
DR GO; GO:0009952; P:anterior/posterior pattern specification; ISS:UniProtKB.
DR GO; GO:0051216; P:cartilage development; ISS:UniProtKB.
DR GO; GO:0007160; P:cell-matrix adhesion; IDA:UniProtKB.
DR GO; GO:0048704; P:embryonic skeletal system morphogenesis; ISS:UniProtKB.
DR GO; GO:0021615; P:glossopharyngeal nerve morphogenesis; IEA:Ensembl.
DR GO; GO:0007219; P:Notch signaling pathway; IMP:UniProtKB.
DR GO; GO:0010628; P:positive regulation of gene expression; IMP:UniProtKB.
DR GO; GO:0045666; P:positive regulation of neuron differentiation; ISS:UniProtKB.
DR GO; GO:0045944; P:positive regulation of transcription by RNA polymerase II; IDA:NTNU_SB.
DR GO; GO:0006357; P:regulation of transcription by RNA polymerase II; IBA:GO_Central.
DR GO; GO:0030878; P:thyroid gland development; ISS:UniProtKB.
DR GO; GO:0006351; P:transcription, DNA-templated; IMP:UniProtKB.
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..432
FT /note="Homeobox protein Hox-D3"
FT /id="PRO_0000200204"
FT DNA_BIND 194..253
FT /note="Homeobox"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00108"
FT REGION 43..62
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 68..197
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 253..280
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 400..432
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT MOTIF 160..165
FT /note="Antp-type hexapeptide"
FT COMPBIAS 91..111
FT /note="Polar residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 112..134
FT /note="Pro residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 146..182
FT /note="Polar residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT VARIANT 129
FT /note="S -> C (in dbSNP:rs1051932)"
FT /id="VAR_011881"
FT CONFLICT 257
FT /note="G -> A (in Ref. 5)"
FT /evidence="ECO:0000305"
SQ SEQUENCE 432 AA; 45730 MW; BC962D2AA076B87B CRC64;
MLFEQGQQAL ELPECTMQKA AYYENPGLFG GYGYSKTTDT YGYSTPHQPY PPPAAASSLD
TDYPGSACSI QSSAPLRAPA HKGAELNGSC MRPGTGNSQG GGGGSQPPGL NSEQQPPQPP
PPPPTLPPSS PTNPGGGVPA KKPKGGPNAS SSSATISKQI FPWMKESRQN SKQKNSCATA
GESCEDKSPP GPASKRVRTA YTSAQLVELE KEFHFNRYLC RPRRVEMANL LNLTERQIKI
WFQNRRMKYK KDQKAKGILH SPASQSPERS PPLGGAAGHV AYSGQLPPVP GLAYDAPSPP
AFAKSQPNMY GLAAYTAPLS SCLPQQKRYA APEFEPHPMA SNGGGFASAN LQGSPVYVGG
NFVESMAPAS GPVFNLGHLS HPSSASVDYS CAAQIPGNHH HGPCDPHPTY TDLSAHHSSQ
GRLPEAPKLT HL
