ID HXD11_HUMAN Reviewed; 338 AA.
AC P31277; A6NIS4; Q9NS02;
DT 01-JUL-1993, integrated into UniProtKB/Swiss-Prot.
DT 10-FEB-2009, sequence version 3.
DT 24-JAN-2024, entry version 192.
DE RecName: Full=Homeobox protein Hox-D11;
DE AltName: Full=Homeobox protein Hox-4F;
GN Name=HOXD11; Synonyms=HOX4F;
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].
RA Miwa N., Yoshiura K., Kantaputra P.K., Soeda E., Niikawa N.;
RT "The role of HOXD11 and HOXD12 for the mesomelic dysplasia Kantaptra
RT type.";
RL Submitted (MAY-1999) to the EMBL/GenBank/DDBJ databases.
RN [2]
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 [3]
RP NUCLEOTIDE SEQUENCE [GENOMIC DNA] OF 266-331.
RX PubMed=2574852; DOI=10.1093/nar/17.24.10385;
RA Acampora D., D'Esposito M., Faiella A., Pannese M., Migliaccio E.,
RA Morelli F., Stornaiuolo A., Nigro V., Simeone A., Boncinelli E.;
RT "The human HOX gene family.";
RL Nucleic Acids Res. 17:10385-10402(1989).
RN [4]
RP VARIANT ASP-245.
RX PubMed=17236141; DOI=10.1086/511387;
RA Zhao X., Sun M., Zhao J., Leyva J.A., Zhu H., Yang W., Zeng X., Ao Y.,
RA Liu Q., Liu G., Lo W.H.Y., Jabs E.W., Amzel L.M., Shan X., Zhang X.;
RT "Mutations in HOXD13 underlie syndactyly type V and a novel brachydactyly-
RT syndactyly syndrome.";
RL Am. J. Hum. Genet. 80:361-371(2007).
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 -!- SUBCELLULAR LOCATION: Nucleus.
CC -!- SIMILARITY: Belongs to the Abd-B homeobox family. {ECO:0000305}.
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DR EMBL; AF154915; AAF79045.1; -; Genomic_DNA.
DR EMBL; AC009336; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR CCDS; CCDS2265.1; -.
DR PIR; S14938; S14938.
DR RefSeq; NP_067015.2; NM_021192.2.
DR AlphaFoldDB; P31277; -.
DR SMR; P31277; -.
DR BioGRID; 109477; 20.
DR IntAct; P31277; 1.
DR STRING; 9606.ENSP00000249504; -.
DR iPTMnet; P31277; -.
DR PhosphoSitePlus; P31277; -.
DR BioMuta; HOXD11; -.
DR DMDM; 223590220; -.
DR MassIVE; P31277; -.
DR PaxDb; 9606-ENSP00000249504; -.
DR PeptideAtlas; P31277; -.
DR ProteomicsDB; 54777; -.
DR Pumba; P31277; -.
DR Antibodypedia; 33904; 314 antibodies from 29 providers.
DR DNASU; 3237; -.
DR Ensembl; ENST00000249504.7; ENSP00000249504.5; ENSG00000128713.14.
DR GeneID; 3237; -.
DR KEGG; hsa:3237; -.
DR MANE-Select; ENST00000249504.7; ENSP00000249504.5; NM_021192.3; NP_067015.2.
DR UCSC; uc002uki.4; human.
DR AGR; HGNC:5134; -.
DR CTD; 3237; -.
DR DisGeNET; 3237; -.
DR GeneCards; HOXD11; -.
DR HGNC; HGNC:5134; HOXD11.
DR HPA; ENSG00000128713; Tissue enhanced (endometrium, intestine, kidney, prostate, vagina).
DR MIM; 142986; gene.
DR neXtProt; NX_P31277; -.
DR OpenTargets; ENSG00000128713; -.
DR PharmGKB; PA29408; -.
DR VEuPathDB; HostDB:ENSG00000128713; -.
DR eggNOG; KOG0487; Eukaryota.
DR GeneTree; ENSGT00940000161308; -.
DR HOGENOM; CLU_079662_0_0_1; -.
DR InParanoid; P31277; -.
DR OMA; CNFFTSV; -.
DR OrthoDB; 728401at2759; -.
DR PhylomeDB; P31277; -.
DR TreeFam; TF350668; -.
DR PathwayCommons; P31277; -.
DR SignaLink; P31277; -.
DR SIGNOR; P31277; -.
DR BioGRID-ORCS; 3237; 30 hits in 1169 CRISPR screens.
DR ChiTaRS; HOXD11; human.
DR GeneWiki; HOXD11; -.
DR GenomeRNAi; 3237; -.
DR Pharos; P31277; Tbio.
DR PRO; PR:P31277; -.
DR Proteomes; UP000005640; Chromosome 2.
DR RNAct; P31277; Protein.
DR Bgee; ENSG00000128713; Expressed in body of uterus and 53 other cell types or tissues.
DR Genevisible; P31277; 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: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:0048856; P:anatomical structure development; IBA:GO_Central.
DR GO; GO:0001658; P:branching involved in ureteric bud morphogenesis; ISS:UniProtKB.
DR GO; GO:0009953; P:dorsal/ventral pattern formation; ISS:UniProtKB.
DR GO; GO:0006357; P:regulation of transcription by RNA polymerase II; IBA:GO_Central.
DR CDD; cd00086; homeodomain; 1.
DR Gene3D; 1.10.10.60; Homeodomain-like; 1.
DR InterPro; IPR021918; DUF3528.
DR InterPro; IPR009057; Homeobox-like_sf.
DR InterPro; IPR017970; Homeobox_CS.
DR InterPro; IPR001356; Homeobox_dom.
DR InterPro; IPR020479; Homeobox_metazoa.
DR PANTHER; PTHR46092; HOMEOBOX PROTEIN HOX-A11-RELATED; 1.
DR PANTHER; PTHR46092:SF2; HOMEOBOX PROTEIN HOX-D11; 1.
DR Pfam; PF12045; DUF3528; 2.
DR Pfam; PF00046; Homeodomain; 1.
DR PRINTS; PR00024; HOMEOBOX.
DR SMART; SM00389; HOX; 1.
DR SUPFAM; SSF46689; Homeodomain-like; 1.
DR PROSITE; PS00027; HOMEOBOX_1; 1.
DR PROSITE; PS50071; HOMEOBOX_2; 1.
PE 3: Inferred from homology;
KW Developmental protein; DNA-binding; Homeobox; Nucleus; Reference proteome;
KW Transcription; Transcription regulation.
FT CHAIN 1..338
FT /note="Homeobox protein Hox-D11"
FT /id="PRO_0000200231"
FT DNA_BIND 266..325
FT /note="Homeobox"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00108"
FT REGION 179..270
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 188..206
FT /note="Pro residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT VARIANT 245
FT /note="G -> D (in dbSNP:rs376305712)"
FT /evidence="ECO:0000269|PubMed:17236141"
FT /id="VAR_031647"
FT CONFLICT 196..205
FT /note="PPPPAPPQPE -> RRHPRRHSPM (in Ref. 1; AAF79045)"
FT /evidence="ECO:0000305"
SQ SEQUENCE 338 AA; 35197 MW; 2960C3C983EA9A6A CRC64;
MNDFDECGQS AASMYLPGCA YYVAPSDFAS KPSFLSQPSS CQMTFPYSSN LAPHVQPVRE
VAFRDYGLER AKWPYRGGGG GGSAGGGSSG GGPGGGGGGA GGYAPYYAAA AAAAAAAAAA
EEAAMQRELL PPAGRRPDVL FKAPEPVCAA PGPPHGPAGA ASNFYSAVGR NGILPQGFDQ
FYEAAPGPPF AGPQPPPPPA PPQPEGAADK GDPRTGAGGG GGSPCTKATP GSEPKGAAEG
SGGDGEGPPG EAGAEKSSSA VAPQRSRKKR CPYTKYQIRE LEREFFFNVY INKEKRLQLS
RMLNLTDRQV KIWFQNRRMK EKKLNRDRLQ YFTGNPLF
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