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P28358

- HXD10_HUMAN

UniProt

P28358 - HXD10_HUMAN

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Protein

Homeobox protein Hox-D10

Gene

HOXD10

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli

Functioni

Sequence-specific transcription factor which is part of a developmental regulatory system that provides cells with specific positional identities on the anterior-posterior axis.

Regions

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
DNA bindingi266 – 32560HomeoboxPROSITE-ProRule annotationAdd
BLAST

GO - Molecular functioni

  1. chromatin binding Source: Ensembl
  2. sequence-specific DNA binding Source: InterPro
  3. sequence-specific DNA binding transcription factor activity Source: Ensembl

GO - Biological processi

  1. adult locomotory behavior Source: Ensembl
  2. anterior/posterior pattern specification Source: Ensembl
  3. embryonic limb morphogenesis Source: Ensembl
  4. embryonic skeletal system morphogenesis Source: Ensembl
  5. forelimb morphogenesis Source: Ensembl
  6. hindlimb morphogenesis Source: Ensembl
  7. neuromuscular process Source: Ensembl
  8. peripheral nervous system neuron development Source: Ensembl
  9. positive regulation of transcription from RNA polymerase II promoter Source: Ensembl
  10. proximal/distal pattern formation Source: Ensembl
  11. single fertilization Source: Ensembl
  12. skeletal muscle tissue development Source: Ensembl
  13. spinal cord motor neuron cell fate specification Source: Ensembl
  14. transcription, DNA-templated Source: UniProtKB-KW
Complete GO annotation...

Keywords - Molecular functioni

Developmental protein

Keywords - Biological processi

Transcription, Transcription regulation

Keywords - Ligandi

DNA-binding

Names & Taxonomyi

Protein namesi
Recommended name:
Homeobox protein Hox-D10
Alternative name(s):
Homeobox protein Hox-4D
Homeobox protein Hox-4E
Gene namesi
Name:HOXD10
Synonyms:HOX4D, HOX4E
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
ProteomesiUP000005640: Chromosome 2

Organism-specific databases

HGNCiHGNC:5133. HOXD10.

Subcellular locationi

GO - Cellular componenti

  1. nucleus Source: UniProtKB-KW
Complete GO annotation...

Keywords - Cellular componenti

Nucleus

Pathology & Biotechi

Involvement in diseasei

Vertical talus, congenital (CVT) [MIM:192950]: A rare malformation characterized by vertical orientation of the talus with a rigid dorsal dislocation of the navicular, equinus deformity of the calcaneus, abduction deformity of the forefoot, and contracture of the soft tissues of the hind- and mid-foot. This condition is usually associated with multiple other congenital deformities and only rarely is an isolated deformity with familial occurrence.1 Publication
Note: The disease is caused by mutations affecting the gene represented in this entry.
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti319 – 3191M → K in CVT; also in Charcot-Marie-Tooth disease-like foot deformities. 1 Publication
VAR_022582

Keywords - Diseasei

Disease mutation

Organism-specific databases

MIMi142984. gene+phenotype.
192950. phenotype.
Orphaneti295203. Congenital vertical talus, bilateral.
295201. Congenital vertical talus, unilateral.
PharmGKBiPA29407.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 340340Homeobox protein Hox-D10PRO_0000200226Add
BLAST

Proteomic databases

PaxDbiP28358.
PRIDEiP28358.

PTM databases

PhosphoSiteiP28358.

Expressioni

Tissue specificityi

Strongly expressed in the adult male and female urogenital tracts.

Developmental stagei

Expressed in the developing limb buds.

Gene expression databases

BgeeiP28358.
CleanExiHS_HOXD10.
GenevestigatoriP28358.

Interactioni

Protein-protein interaction databases

BioGridi109476. 5 interactions.
STRINGi9606.ENSP00000249501.

Structurei

3D structure databases

ProteinModelPortaliP28358.
SMRiP28358. Positions 267-325.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Sequence similaritiesi

Belongs to the Abd-B homeobox family.Curated
Contains 1 homeobox DNA-binding domain.PROSITE-ProRule annotation

Keywords - Domaini

Homeobox

Phylogenomic databases

eggNOGiNOG241114.
GeneTreeiENSGT00760000118834.
HOGENOMiHOG000231182.
HOVERGENiHBG052934.
InParanoidiP28358.
KOiK09295.
OMAiNPRGSAK.
OrthoDBiEOG7VDXPP.
PhylomeDBiP28358.
TreeFamiTF317819.

Family and domain databases

Gene3Di1.10.10.60. 1 hit.
InterProiIPR017970. Homeobox_CS.
IPR001356. Homeobox_dom.
IPR020479. Homeobox_metazoa.
IPR009057. Homeodomain-like.
[Graphical view]
PfamiPF00046. Homeobox. 1 hit.
[Graphical view]
PRINTSiPR00024. HOMEOBOX.
SMARTiSM00389. HOX. 1 hit.
[Graphical view]
SUPFAMiSSF46689. SSF46689. 1 hit.
PROSITEiPS00027. HOMEOBOX_1. 1 hit.
PS50071. HOMEOBOX_2. 1 hit.
[Graphical view]

Sequencei

Sequence statusi: Complete.

P28358 [UniParc]FASTAAdd to Basket

« Hide

        10         20         30         40         50
MSFPNSSPAA NTFLVDSLIS ACRSDSFYSS SASMYMPPPS ADMGTYGMQT
60 70 80 90 100
CGLLPSLAKR EVNHQNMGMN VHPYIPQVDS WTDPNRSCRI EQPVTQQVPT
110 120 130 140 150
CSFTTNIKEE SNCCMYSDKR NKLISAEVPS YQRLVPESCP VENPEVPVPG
160 170 180 190 200
YFRLSQTYAT GKTQEYNNSP EGSSTVMLQL NPRGAAKPQL SAAQLQMEKK
210 220 230 240 250
MNEPVSGQEP TKVSQVESPE AKGGLPEERS CLAEVSVSSP EVQEKESKEE
260 270 280 290 300
IKSDTPTSNW LTAKSGRKKR CPYTKHQTLE LEKEFLFNMY LTRERRLEIS
310 320 330 340
KSVNLTDRQV KIWFQNRRMK LKKMSRENRI RELTANLTFS
Length:340
Mass (Da):38,411
Last modified:April 3, 2007 - v2
Checksum:iFA6DB8C9DD97D7C9
GO

Experimental Info

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti150 – 1501G → R in CAA42017. (PubMed:1756725)Curated

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti319 – 3191M → K in CVT; also in Charcot-Marie-Tooth disease-like foot deformities. 1 Publication
VAR_022582

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
X59373 mRNA. Translation: CAA42017.1.
BC069619 mRNA. Translation: AAH69619.1.
BC074760 mRNA. Translation: AAH74760.1.
CCDSiCCDS2266.1.
PIRiA42008.
S18650.
RefSeqiNP_002139.2. NM_002148.3.
UniGeneiHs.123070.

Genome annotation databases

EnsembliENST00000249501; ENSP00000249501; ENSG00000128710.
GeneIDi3236.
KEGGihsa:3236.
UCSCiuc002ukj.3. human.

Polymorphism databases

DMDMi143811403.

Cross-referencesi

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
X59373 mRNA. Translation: CAA42017.1 .
BC069619 mRNA. Translation: AAH69619.1 .
BC074760 mRNA. Translation: AAH74760.1 .
CCDSi CCDS2266.1.
PIRi A42008.
S18650.
RefSeqi NP_002139.2. NM_002148.3.
UniGenei Hs.123070.

3D structure databases

ProteinModelPortali P28358.
SMRi P28358. Positions 267-325.
ModBasei Search...
MobiDBi Search...

Protein-protein interaction databases

BioGridi 109476. 5 interactions.
STRINGi 9606.ENSP00000249501.

PTM databases

PhosphoSitei P28358.

Polymorphism databases

DMDMi 143811403.

Proteomic databases

PaxDbi P28358.
PRIDEi P28358.

Protocols and materials databases

DNASUi 3236.
Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000249501 ; ENSP00000249501 ; ENSG00000128710 .
GeneIDi 3236.
KEGGi hsa:3236.
UCSCi uc002ukj.3. human.

Organism-specific databases

CTDi 3236.
GeneCardsi GC02P176973.
HGNCi HGNC:5133. HOXD10.
MIMi 142984. gene+phenotype.
192950. phenotype.
neXtProti NX_P28358.
Orphaneti 295203. Congenital vertical talus, bilateral.
295201. Congenital vertical talus, unilateral.
PharmGKBi PA29407.
GenAtlasi Search...

Phylogenomic databases

eggNOGi NOG241114.
GeneTreei ENSGT00760000118834.
HOGENOMi HOG000231182.
HOVERGENi HBG052934.
InParanoidi P28358.
KOi K09295.
OMAi NPRGSAK.
OrthoDBi EOG7VDXPP.
PhylomeDBi P28358.
TreeFami TF317819.

Miscellaneous databases

GeneWikii HOXD10.
GenomeRNAii 3236.
NextBioi 12879.
PROi P28358.
SOURCEi Search...

Gene expression databases

Bgeei P28358.
CleanExi HS_HOXD10.
Genevestigatori P28358.

Family and domain databases

Gene3Di 1.10.10.60. 1 hit.
InterProi IPR017970. Homeobox_CS.
IPR001356. Homeobox_dom.
IPR020479. Homeobox_metazoa.
IPR009057. Homeodomain-like.
[Graphical view ]
Pfami PF00046. Homeobox. 1 hit.
[Graphical view ]
PRINTSi PR00024. HOMEOBOX.
SMARTi SM00389. HOX. 1 hit.
[Graphical view ]
SUPFAMi SSF46689. SSF46689. 1 hit.
PROSITEi PS00027. HOMEOBOX_1. 1 hit.
PS50071. HOMEOBOX_2. 1 hit.
[Graphical view ]
ProtoNeti Search...

Publicationsi

« Hide 'large scale' publications
  1. "HOX4 genes encode transcription factors with potential auto- and cross-regulatory capacities."
    Zappavigna V., Renucci A., Izpisua-Belmonte J.-C., Urier G., Peschle C., Duboule D.
    EMBO J. 10:4177-4187(1991) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [MRNA].
    Tissue: Spinal cord.
  2. "Human HOX4E: a gene strongly expressed in the adult male and female urogenital tracts."
    Redline R.W., Williams A.J., Patterson P., Collins T.
    Genomics 13:425-430(1992) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [MRNA].
  3. "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
    The MGC Project Team
    Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
    Tissue: Colon.
  4. Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 266-331.
  5. "A HOX gene mutation in a family with isolated congenital vertical talus and Charcot-Marie-Tooth disease."
    Shrimpton A.E., Levinsohn E.M., Yozawitz J.M., Packard D.S. Jr., Cady R.B., Middleton F.A., Persico A.M., Hootnick D.R.
    Am. J. Hum. Genet. 75:92-96(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANT CVT LYS-319.

Entry informationi

Entry nameiHXD10_HUMAN
AccessioniPrimary (citable) accession number: P28358
Secondary accession number(s): Q6NT10
Entry historyi
Integrated into UniProtKB/Swiss-Prot: December 1, 1992
Last sequence update: April 3, 2007
Last modified: October 29, 2014
This is version 138 of the entry and version 2 of the sequence. [Complete history]
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. Vertebrate homeotic Hox proteins
    Nomenclature of vertebrate homeotic Hox proteins and list of entries
  2. Human chromosome 2
    Human chromosome 2: entries, gene names and cross-references to MIM
  3. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  4. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  5. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  6. SIMILARITY comments
    Index of protein domains and families

External Data

Dasty 3