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 04-NOV-2026, entry version 203. 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}. 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; 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_021192.3. DR SMR; P31277; -. DR BioGRID; 109477; 25. DR IntAct; P31277; 6. DR STRING; 9606.ENSP00000249504; -. DR NDEx; IQUERY-CP-HOXD11; 3 NDEx IQuery Curated Pathways. DR GlyCosmos; P31277; 1 site, 1 glycan. DR GlyGen; P31277; 1 site, 1 O-linked glycan (1 site). DR iPTMnet; P31277; -. DR PhosphoSitePlus; P31277; -. DR BioMuta; HOXD11; -. DR DMDM; 223590220; -. DR PaxDb; 9606-ENSP00000249504; -. DR PeptideAtlas; P31277; -. DR ProteomicsDB; 54777; -. DR Pumba; P31277; -. DR jPOST; P31277; -. DR MassIVE; P31277; -. 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 CTD; 3237; -. DR DisGeNET; 3237; -. DR VEuPathDB; HostDB:ENSG00000128713; -. DR GeneCards; HOXD11; -. DR HGNC; HGNC:5134; HOXD11. DR AGR; HGNC:5134; -. DR HPA; ENSG00000128713; Tissue enhanced (cervix, endometrium, intestine, kidney, vagina). DR MIM; 142986; gene. DR OpenTargets; ENSG00000128713; -. DR ClinPGx; PA29408; -. DR eggNOG; KOG0487; Eukaryota. DR GeneTree; ENSGT00940000161308; -. DR HOGENOM; CLU_079662_0_0_1; -. DR InParanoid; P31277; -. DR OMA; AACNKHT; -. DR OrthoDB; 6159439at2759; -. DR PhylomeDB; P31277; -. DR Reactome; R-HSA-9830674; Formation of the ureteric bud. DR SignaLink; P31277; -. DR SIGNOR; P31277; -. DR ChiTaRS; HOXD11; human. DR GeneWiki; HOXD11; -. DR GenomeRNAi; 3237; -. DR PRO; PR:P31277; -. DR Bgee; ENSG00000128713; Expressed in body of uterus and 53 other cell types or tissues. DR CDD; cd00086; homeodomain; 1. DR FunFam; 1.10.10.60:FF:000166; homeobox protein Hox-C11; 1. DR Gene3D; 1.10.10.60; Homeodomain-like; 1. DR InterPro; IPR021918; DUF3528. DR InterPro; IPR001356; HD. DR InterPro; IPR020479; HD_metazoa. DR InterPro; IPR017970; Homeobox_CS. DR InterPro; IPR009057; Homeodomain-like_sf. 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. 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:0001658; P:branching involved in ureteric bud morphogenesis; ISS:UniProtKB. DR GO; GO:0009953; P:dorsal/ventral pattern formation; ISS:UniProtKB. DR GO; GO:0060272; P:embryonic skeletal joint morphogenesis; IBA:GO_Central. DR GO; GO:0006357; P:regulation of transcription by RNA polymerase II; IBA:GO_Central. DR Proteomes; UP000005640; Chromosome 2. DR PathwayCommons; P31277; -. DR Pharos; P31277; Tbio. DR Antibodypedia; 33904; 329 antibodies from 31 providers. DR RNAct; P31277; protein. DR BioGRID-ORCS; 3237; 30 hits in 1169 CRISPR screens. DR AlphaFoldDB; P31277; -. DR FunCoup; P31277; 787. DR PAN-GO; P31277; 5 GO annotations based on evolutionary models. PE 1: Evidence at protein level; KW Developmental protein; DNA-binding; Homeobox; Nucleus; KW Proteomics identification; Reference proteome; Transcription; KW 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 186..204 FT /note="Pro residues" FT /evidence="ECO:0000256|SAM:MobiDB-lite" FT COMPBIAS 239..250 FT /note="Gly 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 //