HXD10_HUMAN
ID HXD10_HUMAN Reviewed; 340 AA.
AC P28358; Q6NT10;
DT 01-DEC-1992, integrated into UniProtKB/Swiss-Prot.
DT 03-APR-2007, sequence version 2.
DT 03-AUG-2022, entry version 189.
DE RecName: Full=Homeobox protein Hox-D10;
DE AltName: Full=Homeobox protein Hox-4D;
DE AltName: Full=Homeobox protein Hox-4E;
GN Name=HOXD10; Synonyms=HOX4D, 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 [MRNA].
RC TISSUE=Spinal cord;
RX PubMed=1756725; DOI=10.1002/j.1460-2075.1991.tb04996.x;
RA Zappavigna V., Renucci A., Izpisua-Belmonte J.-C., Urier G., Peschle C.,
RA Duboule D.;
RT "HOX4 genes encode transcription factors with potential auto- and cross-
RT regulatory capacities.";
RL EMBO J. 10:4177-4187(1991).
RN [2]
RP NUCLEOTIDE SEQUENCE [MRNA].
RX PubMed=1351871; DOI=10.1016/0888-7543(92)90263-r;
RA Redline R.W., Williams A.J., Patterson P., Collins T.;
RT "Human HOX4E: a gene strongly expressed in the adult male and female
RT urogenital tracts.";
RL Genomics 13:425-430(1992).
RN [3]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
RC TISSUE=Colon;
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 [4]
RP NUCLEOTIDE SEQUENCE [MRNA] 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 [5]
RP VARIANT CVT LYS-319.
RX PubMed=15146389; DOI=10.1086/422015;
RA Shrimpton A.E., Levinsohn E.M., Yozawitz J.M., Packard D.S. Jr., Cady R.B.,
RA Middleton F.A., Persico A.M., Hootnick D.R.;
RT "A HOX gene mutation in a family with isolated congenital vertical talus
RT and Charcot-Marie-Tooth disease.";
RL Am. J. Hum. Genet. 75:92-96(2004).
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 P28358; Q9UNS2: COPS3; NbExp=3; IntAct=EBI-12690664, EBI-350590;
CC P28358; O14893: GEMIN2; NbExp=3; IntAct=EBI-12690664, EBI-443648;
CC P28358; Q8N594: MPND; NbExp=3; IntAct=EBI-12690664, EBI-2512452;
CC P28358; O75925: PIAS1; NbExp=3; IntAct=EBI-12690664, EBI-629434;
CC P28358; Q9NS23-4: RASSF1; NbExp=3; IntAct=EBI-12690664, EBI-438710;
CC P28358; Q96D59: RNF183; NbExp=3; IntAct=EBI-12690664, EBI-743938;
CC P28358; Q9GZS3: WDR61; NbExp=3; IntAct=EBI-12690664, EBI-358545;
CC -!- SUBCELLULAR LOCATION: Nucleus.
CC -!- TISSUE SPECIFICITY: Strongly expressed in the adult male and female
CC urogenital tracts.
CC -!- DEVELOPMENTAL STAGE: Expressed in the developing limb buds.
CC -!- DISEASE: Vertical talus, congenital (CVT) [MIM:192950]: A rare
CC malformation characterized by vertical orientation of the talus with a
CC rigid dorsal dislocation of the navicular, equinus deformity of the
CC calcaneus, abduction deformity of the forefoot, and contracture of the
CC soft tissues of the hind- and mid-foot. This condition is usually
CC associated with multiple other congenital deformities and only rarely
CC is an isolated deformity with familial occurrence.
CC {ECO:0000269|PubMed:15146389}. Note=The disease is caused by variants
CC affecting the gene represented in this entry.
CC -!- SIMILARITY: Belongs to the Abd-B homeobox family. {ECO:0000305}.
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DR EMBL; X59373; CAA42017.1; -; mRNA.
DR EMBL; BC069619; AAH69619.1; -; mRNA.
DR EMBL; BC074760; AAH74760.1; -; mRNA.
DR CCDS; CCDS2266.1; -.
DR PIR; A42008; A42008.
DR PIR; S18650; S18650.
DR RefSeq; NP_002139.2; NM_002148.3.
DR AlphaFoldDB; P28358; -.
DR SMR; P28358; -.
DR BioGRID; 109476; 12.
DR ComplexPortal; CPX-6094; HOXD10-Geminin transcriptional repressor complex.
DR IntAct; P28358; 9.
DR STRING; 9606.ENSP00000249501; -.
DR iPTMnet; P28358; -.
DR PhosphoSitePlus; P28358; -.
DR BioMuta; HOXD10; -.
DR DMDM; 143811403; -.
DR EPD; P28358; -.
DR jPOST; P28358; -.
DR MassIVE; P28358; -.
DR MaxQB; P28358; -.
DR PaxDb; P28358; -.
DR PeptideAtlas; P28358; -.
DR PRIDE; P28358; -.
DR ProteomicsDB; 54481; -.
DR Antibodypedia; 33906; 309 antibodies from 30 providers.
DR DNASU; 3236; -.
DR Ensembl; ENST00000249501.5; ENSP00000249501.4; ENSG00000128710.6.
DR GeneID; 3236; -.
DR KEGG; hsa:3236; -.
DR MANE-Select; ENST00000249501.5; ENSP00000249501.4; NM_002148.4; NP_002139.2.
DR UCSC; uc002ukj.4; human.
DR CTD; 3236; -.
DR DisGeNET; 3236; -.
DR GeneCards; HOXD10; -.
DR HGNC; HGNC:5133; HOXD10.
DR HPA; ENSG00000128710; Tissue enhanced (cervix, endometrium, vagina).
DR MalaCards; HOXD10; -.
DR MIM; 142984; gene+phenotype.
DR MIM; 192950; phenotype.
DR neXtProt; NX_P28358; -.
DR OpenTargets; ENSG00000128710; -.
DR Orphanet; 295203; Congenital vertical talus, bilateral.
DR Orphanet; 295201; Congenital vertical talus, unilateral.
DR PharmGKB; PA29407; -.
DR VEuPathDB; HostDB:ENSG00000128710; -.
DR eggNOG; KOG0487; Eukaryota.
DR GeneTree; ENSGT00940000158266; -.
DR HOGENOM; CLU_057871_0_0_1; -.
DR InParanoid; P28358; -.
DR OMA; SYGMQTC; -.
DR OrthoDB; 976319at2759; -.
DR PhylomeDB; P28358; -.
DR TreeFam; TF317819; -.
DR PathwayCommons; P28358; -.
DR SignaLink; P28358; -.
DR SIGNOR; P28358; -.
DR BioGRID-ORCS; 3236; 32 hits in 1095 CRISPR screens.
DR GeneWiki; HOXD10; -.
DR GenomeRNAi; 3236; -.
DR Pharos; P28358; Tbio.
DR PRO; PR:P28358; -.
DR Proteomes; UP000005640; Chromosome 2.
DR RNAct; P28358; protein.
DR Bgee; ENSG00000128710; Expressed in renal medulla and 97 other tissues.
DR Genevisible; P28358; HS.
DR GO; GO:0000785; C:chromatin; ISA:NTNU_SB.
DR GO; GO:0036464; C:cytoplasmic ribonucleoprotein granule; IDA:HPA.
DR GO; GO:0005829; C:cytosol; IDA:HPA.
DR GO; GO:0005654; C:nucleoplasm; IDA:HPA.
DR GO; GO:0005634; C:nucleus; IBA:GO_Central.
DR GO; GO:0003682; F:chromatin binding; IEA:Ensembl.
DR GO; GO:0001228; F:DNA-binding transcription activator activity, RNA polymerase II-specific; IEA:Ensembl.
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:0008344; P:adult locomotory behavior; IEA:Ensembl.
DR GO; GO:0009952; P:anterior/posterior pattern specification; IEA:Ensembl.
DR GO; GO:0030326; P:embryonic limb morphogenesis; IEA:Ensembl.
DR GO; GO:0048704; P:embryonic skeletal system morphogenesis; IEA:Ensembl.
DR GO; GO:0035136; P:forelimb morphogenesis; IEA:Ensembl.
DR GO; GO:0035137; P:hindlimb morphogenesis; IEA:Ensembl.
DR GO; GO:0045786; P:negative regulation of cell cycle; IC:ComplexPortal.
DR GO; GO:0050905; P:neuromuscular process; IEA:Ensembl.
DR GO; GO:0048935; P:peripheral nervous system neuron development; IEA:Ensembl.
DR GO; GO:0009954; P:proximal/distal pattern formation; IEA:Ensembl.
DR GO; GO:0006357; P:regulation of transcription by RNA polymerase II; IBA:GO_Central.
DR GO; GO:0007338; P:single fertilization; IEA:Ensembl.
DR GO; GO:0007519; P:skeletal muscle tissue development; IEA:Ensembl.
DR GO; GO:0021520; P:spinal cord motor neuron cell fate specification; IEA:Ensembl.
DR CDD; cd00086; homeodomain; 1.
DR InterPro; IPR009057; Homeobox-like_sf.
DR InterPro; IPR017970; Homeobox_CS.
DR InterPro; IPR001356; Homeobox_dom.
DR InterPro; IPR020479; Homeobox_metazoa.
DR InterPro; IPR046333; HXA10/ABDB-like.
DR PANTHER; PTHR45874; PTHR45874; 1.
DR Pfam; PF00046; Homeodomain; 1.
DR PRINTS; PR00024; HOMEOBOX.
DR SMART; SM00389; HOX; 1.
DR SUPFAM; SSF46689; SSF46689; 1.
DR PROSITE; PS00027; HOMEOBOX_1; 1.
DR PROSITE; PS50071; HOMEOBOX_2; 1.
PE 1: Evidence at protein level;
KW Developmental protein; Disease variant; DNA-binding; Homeobox; Nucleus;
KW Phosphoprotein; Reference proteome; Transcription;
KW Transcription regulation.
FT CHAIN 1..340
FT /note="Homeobox protein Hox-D10"
FT /id="PRO_0000200226"
FT DNA_BIND 266..325
FT /note="Homeobox"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00108"
FT REGION 200..268
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT MOD_RES 238
FT /note="Phosphoserine"
FT /evidence="ECO:0000250|UniProtKB:P28359"
FT MOD_RES 239
FT /note="Phosphoserine"
FT /evidence="ECO:0000250|UniProtKB:P28359"
FT VARIANT 319
FT /note="M -> K (in CVT; also in Charcot-Marie-Tooth disease-
FT like foot deformities; dbSNP:rs104893634)"
FT /evidence="ECO:0000269|PubMed:15146389"
FT /id="VAR_022582"
FT CONFLICT 150
FT /note="G -> R (in Ref. 1; CAA42017)"
FT /evidence="ECO:0000305"
SQ SEQUENCE 340 AA; 38411 MW; FA6DB8C9DD97D7C9 CRC64;
MSFPNSSPAA NTFLVDSLIS ACRSDSFYSS SASMYMPPPS ADMGTYGMQT CGLLPSLAKR
EVNHQNMGMN VHPYIPQVDS WTDPNRSCRI EQPVTQQVPT CSFTTNIKEE SNCCMYSDKR
NKLISAEVPS YQRLVPESCP VENPEVPVPG YFRLSQTYAT GKTQEYNNSP EGSSTVMLQL
NPRGAAKPQL SAAQLQMEKK MNEPVSGQEP TKVSQVESPE AKGGLPEERS CLAEVSVSSP
EVQEKESKEE IKSDTPTSNW LTAKSGRKKR CPYTKHQTLE LEKEFLFNMY LTRERRLEIS
KSVNLTDRQV KIWFQNRRMK LKKMSRENRI RELTANLTFS
