HXD8_HUMAN
ID HXD8_HUMAN Reviewed; 290 AA.
AC P13378; F8WBG7; Q5BL00; Q8IXZ1;
DT 01-JAN-1990, integrated into UniProtKB/Swiss-Prot.
DT 21-FEB-2001, sequence version 2.
DT 03-AUG-2022, entry version 194.
DE RecName: Full=Homeobox protein Hox-D8;
DE AltName: Full=Homeobox protein Hox-4E;
DE AltName: Full=Homeobox protein Hox-5.4;
GN Name=HOXD8; Synonyms=HOX4E;
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=11857506; DOI=10.1002/tera.10009;
RA Kosaki K., Kosaki R., Suzuki T., Yoshihashi H., Takahashi T., Sasaki K.,
RA Tomita M., McGinnis W., Matsuo N.;
RT "Complete mutation analysis panel of the 39 human HOX genes.";
RL Teratology 65:50-62(2002).
RN [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 3).
RC TISSUE=Neuroblastoma;
RA Li W.B., Gruber C., Jessee J., Polayes D.;
RT "Full-length cDNA libraries and normalization.";
RL Submitted (APR-2003) 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] (ISOFORM 2).
RC TISSUE=Kidney, and PNS;
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 193-287.
RX PubMed=2568311; DOI=10.1101/gad.3.5.641;
RA Oliver G., Sidell N., Fiske N., Heinzmann C., Mohandas T., Sparkes R.S.,
RA De Robertis E.M.;
RT "Complementary homeo protein gradients in developing limb buds.";
RL Genes Dev. 3:641-650(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 P13378; Q9UQB8-6: BAIAP2; NbExp=3; IntAct=EBI-7098661, EBI-9092016;
CC P13378; Q5SW96: LDLRAP1; NbExp=3; IntAct=EBI-7098661, EBI-747813;
CC P13378; O43639: NCK2; NbExp=3; IntAct=EBI-7098661, EBI-713635;
CC -!- SUBCELLULAR LOCATION: Nucleus.
CC -!- ALTERNATIVE PRODUCTS:
CC Event=Alternative splicing; Named isoforms=3;
CC Name=1;
CC IsoId=P13378-1; Sequence=Displayed;
CC Name=2;
CC IsoId=P13378-2; Sequence=VSP_042856;
CC Name=3;
CC IsoId=P13378-3; Sequence=VSP_045862, VSP_045863;
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; AY014304; AAG42152.1; -; Genomic_DNA.
DR EMBL; AY014303; AAG42152.1; JOINED; Genomic_DNA.
DR EMBL; AL520835; -; NOT_ANNOTATED_CDS; mRNA.
DR EMBL; AC009336; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; BC038709; AAH38709.1; -; mRNA.
DR EMBL; BC090853; AAH90853.1; -; mRNA.
DR EMBL; X15507; CAA33529.1; -; Genomic_DNA.
DR CCDS; CCDS2268.1; -. [P13378-1]
DR CCDS; CCDS56148.1; -. [P13378-2]
DR PIR; B32830; B32830.
DR RefSeq; NP_001186675.1; NM_001199746.1. [P13378-2]
DR RefSeq; NP_062458.1; NM_019558.3. [P13378-1]
DR AlphaFoldDB; P13378; -.
DR SMR; P13378; -.
DR BioGRID; 109474; 9.
DR IntAct; P13378; 8.
DR MINT; P13378; -.
DR STRING; 9606.ENSP00000315949; -.
DR iPTMnet; P13378; -.
DR PhosphoSitePlus; P13378; -.
DR BioMuta; HOXD8; -.
DR DMDM; 13124737; -.
DR jPOST; P13378; -.
DR MassIVE; P13378; -.
DR MaxQB; P13378; -.
DR PaxDb; P13378; -.
DR PeptideAtlas; P13378; -.
DR PRIDE; P13378; -.
DR ProteomicsDB; 30803; -.
DR ProteomicsDB; 52907; -. [P13378-1]
DR ProteomicsDB; 52908; -. [P13378-2]
DR Antibodypedia; 33911; 294 antibodies from 30 providers.
DR DNASU; 3234; -.
DR Ensembl; ENST00000313173.6; ENSP00000315949.4; ENSG00000175879.9. [P13378-1]
DR Ensembl; ENST00000450510.2; ENSP00000409026.2; ENSG00000175879.9. [P13378-2]
DR GeneID; 3234; -.
DR KEGG; hsa:3234; -.
DR MANE-Select; ENST00000313173.6; ENSP00000315949.4; NM_019558.4; NP_062458.1.
DR UCSC; uc002uko.4; human. [P13378-1]
DR CTD; 3234; -.
DR DisGeNET; 3234; -.
DR GeneCards; HOXD8; -.
DR HGNC; HGNC:5139; HOXD8.
DR HPA; ENSG00000175879; Tissue enhanced (epididymis, kidney).
DR MIM; 142985; gene.
DR neXtProt; NX_P13378; -.
DR OpenTargets; ENSG00000175879; -.
DR PharmGKB; PA29413; -.
DR VEuPathDB; HostDB:ENSG00000175879; -.
DR eggNOG; KOG0489; Eukaryota.
DR GeneTree; ENSGT00940000161653; -.
DR InParanoid; P13378; -.
DR OMA; CHREPAK; -.
DR OrthoDB; 976319at2759; -.
DR PhylomeDB; P13378; -.
DR TreeFam; TF316310; -.
DR PathwayCommons; P13378; -.
DR SignaLink; P13378; -.
DR BioGRID-ORCS; 3234; 11 hits in 1094 CRISPR screens.
DR GeneWiki; HOXD8; -.
DR GenomeRNAi; 3234; -.
DR Pharos; P13378; Tbio.
DR PRO; PR:P13378; -.
DR Proteomes; UP000005640; Chromosome 2.
DR RNAct; P13378; protein.
DR Bgee; ENSG00000175879; Expressed in germinal epithelium of ovary and 120 other tissues.
DR ExpressionAtlas; P13378; baseline and differential.
DR Genevisible; P13378; 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: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:0008595; P:anterior/posterior axis specification, embryo; NAS:UniProtKB.
DR GO; GO:0000122; P:negative regulation of transcription by RNA polymerase II; IEA:Ensembl.
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:0048705; P:skeletal system morphogenesis; IEA:Ensembl.
DR CDD; cd00086; homeodomain; 1.
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; 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 Alternative splicing; Developmental protein; DNA-binding; Homeobox;
KW Nucleus; Reference proteome; Transcription; Transcription regulation.
FT CHAIN 1..290
FT /note="Homeobox protein Hox-D8"
FT /id="PRO_0000200216"
FT DNA_BIND 197..256
FT /note="Homeobox"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00108"
FT REGION 60..127
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 161..200
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 255..290
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 105..127
FT /note="Pro residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 161..187
FT /note="Polar residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT VAR_SEQ 1..184
FT /note="Missing (in isoform 3)"
FT /evidence="ECO:0000303|Ref.2"
FT /id="VSP_045862"
FT VAR_SEQ 193
FT /note="Missing (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:15489334"
FT /id="VSP_042856"
FT VAR_SEQ 252..290
FT /note="Missing (in isoform 3)"
FT /evidence="ECO:0000303|Ref.2"
FT /id="VSP_045863"
FT CONFLICT 39
FT /note="E -> G (in Ref. 4; AAH90853)"
FT /evidence="ECO:0000305"
FT CONFLICT 287
FT /note="G -> A (in Ref. 5; CAA33529)"
FT /evidence="ECO:0000305"
SQ SEQUENCE 290 AA; 31911 MW; 75FF95A73E2AA85F CRC64;
MSSYFVNPLY SKYKAAAAAA AAAGEAINPT YYDCHFAPEV GGRHAAAAAA LQLYGNSAAG
FPHAPPQAHA HPHPSPPPSG TGCGGREGRG QEYFHPGGGS PAAAYQAAPP PPPHPPPPPP
PPPCGGIACH GEPAKFYGYD NLQRQPIFTT QQEAELVQYP DCKSSSGNIG EDPDHLNQSS
SPSQMFPWMR PQAAPGRRRG RQTYSRFQTL ELEKEFLFNP YLTRKRRIEV SHALALTERQ
VKIWFQNRRM KWKKENNKDK FPVSRQEVKD GETKKEAQEL EEDRAEGLTN
