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UniProtKB - P31276 (HXC13_HUMAN)
Protein
Homeobox protein Hox-C13
Gene
HOXC13
Organism
Homo sapiens (Human)
Status
Functioni
Transcription factor which plays a role in hair follicle differentiation. Regulates FOXQ1 expression and that of other hair-specific genes (By similarity).
By similarityRegions
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
DNA bindingi | 260 – 319 | HomeoboxPROSITE-ProRule annotationAdd BLAST | 60 |
GO - Molecular functioni
- chromatin binding Source: Ensembl
- DNA-binding transcription activator activity, RNA polymerase II-specific Source: Ensembl
- DNA-binding transcription factor activity Source: ARUK-UCL
- DNA-binding transcription factor activity, RNA polymerase II-specific Source: NTNU_SB
- DNA-binding transcription factor binding Source: ARUK-UCL
- RNA polymerase II cis-regulatory region sequence-specific DNA binding Source: GO_Central
- sequence-specific double-stranded DNA binding Source: ARUK-UCL
- transcription cis-regulatory region binding Source: ARUK-UCL
GO - Biological processi
- anatomical structure morphogenesis Source: ProtInc
- anterior/posterior pattern specification Source: Ensembl
- hair follicle development Source: Ensembl
- nail development Source: Ensembl
- positive regulation of transcription, DNA-templated Source: ARUK-UCL
- regulation of transcription by RNA polymerase II Source: GO_Central
- tongue morphogenesis Source: Ensembl
Keywordsi
Molecular function | Developmental protein, DNA-binding |
Biological process | Transcription, Transcription regulation |
Enzyme and pathway databases
PathwayCommonsi | P31276 |
SignaLinki | P31276 |
SIGNORi | P31276 |
Names & Taxonomyi
Protein namesi | Recommended name: Homeobox protein Hox-C13Alternative name(s): Homeobox protein Hox-3G |
Gene namesi | Name:HOXC13 Synonyms:HOX3G |
Organismi | Homo sapiens (Human) |
Taxonomic identifieri | 9606 [NCBI] |
Taxonomic lineagei | Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo |
Proteomesi |
|
Organism-specific databases
HGNCi | HGNC:5125, HOXC13 |
MIMi | 142976, gene |
neXtProti | NX_P31276 |
VEuPathDBi | HostDB:ENSG00000123364 |
Pathology & Biotechi
Involvement in diseasei
Ectodermal dysplasia 9, hair/nail type (ECTD9)2 Publications
The disease is caused by variants affecting the gene represented in this entry.
Disease descriptionA form of ectodermal dysplasia, a heterogeneous group of disorders due to abnormal development of two or more ectodermal structures such as hair, teeth, nails and sweat glands, with or without any additional clinical sign. Each combination of clinical features represents a different type of ectodermal dysplasia. ECTD9 is characterized by hypotrichosis and nail dystrophy without non-ectodermal or other ectodermal manifestations. Hypotrichosis usually occurs after birth with varying degrees of severity, ranging from mild hair loss to complete atrichia, including the loss of scalp hair, beard, eyebrows, eyelashes, axillary hair, and pubic hair. Nail dystrophy affects all 20 digits by causing short fragile nails or spoon nails (koilonychia).
Related information in OMIMFeature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_079380 | 271 | Q → R in ECTD9; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs1383255506Ensembl. | 1 |
Keywords - Diseasei
Disease variant, Ectodermal dysplasiaOrganism-specific databases
DisGeNETi | 3229 |
MalaCardsi | HOXC13 |
MIMi | 614931, phenotype |
OpenTargetsi | ENSG00000123364 |
Orphaneti | 69084, Pure hair and nail ectodermal dysplasia |
PharmGKBi | PA29400 |
Miscellaneous databases
Pharosi | P31276, Tbio |
Genetic variation databases
BioMutai | HOXC13 |
DMDMi | 20141539 |
PTM / Processingi
Molecule processing
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
ChainiPRO_0000200197 | 1 – 330 | Homeobox protein Hox-C13Add BLAST | 330 |
Proteomic databases
EPDi | P31276 |
MassIVEi | P31276 |
MaxQBi | P31276 |
PaxDbi | P31276 |
PeptideAtlasi | P31276 |
PRIDEi | P31276 |
ProteomicsDBi | 54776 |
PTM databases
iPTMneti | P31276 |
PhosphoSitePlusi | P31276 |
Expressioni
Gene expression databases
Bgeei | ENSG00000123364, Expressed in islet of Langerhans and 93 other tissues |
Genevisiblei | P31276, HS |
Organism-specific databases
HPAi | ENSG00000123364, Tissue enriched (skin) |
Interactioni
Binary interactionsi
GO - Molecular functioni
- DNA-binding transcription factor binding Source: ARUK-UCL
Protein-protein interaction databases
BioGRIDi | 109469, 18 interactors |
IntActi | P31276, 24 interactors |
MINTi | P31276 |
STRINGi | 9606.ENSP00000243056 |
Miscellaneous databases
RNActi | P31276, protein |
Family & Domainsi
Region
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Regioni | 30 – 50 | DisorderedSequence analysisAdd BLAST | 21 |
Sequence similaritiesi
Belongs to the Abd-B homeobox family.Curated
Keywords - Domaini
HomeoboxPhylogenomic databases
eggNOGi | KOG0487, Eukaryota |
GeneTreei | ENSGT01040000240513 |
HOGENOMi | CLU_059940_0_0_1 |
InParanoidi | P31276 |
OMAi | SKNNHMH |
OrthoDBi | 1190384at2759 |
PhylomeDBi | P31276 |
TreeFami | TF330813 |
Family and domain databases
CDDi | cd00086, homeodomain, 1 hit |
InterProi | View protein in InterPro IPR009057, Homeobox-like_sf IPR017970, Homeobox_CS IPR001356, Homeobox_dom IPR022067, HoxA13_N |
Pfami | View protein in Pfam PF00046, Homeodomain, 1 hit PF12284, HoxA13_N, 1 hit |
SMARTi | View protein in SMART SM00389, HOX, 1 hit |
SUPFAMi | SSF46689, SSF46689, 1 hit |
PROSITEi | View protein in PROSITE PS00027, HOMEOBOX_1, 1 hit PS50071, HOMEOBOX_2, 1 hit |
i Sequence
Sequence statusi: Complete.
P31276-1 [UniParc]FASTAAdd to basket
10 20 30 40 50
MTTSLLLHPR WPESLMYVYE DSAAESGIGG GGGGGGGGTG GAGGGCSGAS
60 70 80 90 100
PGKAPSMDGL GSSCPASHCR DLLPHPVLGR PPAPLGAPQG AVYTDIPAPE
110 120 130 140 150
AARQCAPPPA PPTSSSATLG YGYPFGGSYY GCRLSHNVNL QQKPCAYHPG
160 170 180 190 200
DKYPEPSGAL PGDDLSSRAK EFAFYPSFAS SYQAMPGYLD VSVVPGISGH
210 220 230 240 250
PEPRHDALIP VEGYQHWALS NGWDSQVYCS KEQSQSAHLW KSPFPDVVPL
260 270 280 290 300
QPEVSSYRRG RKKRVPYTKV QLKELEKEYA ASKFITKEKR RRISATTNLS
310 320 330
ERQVTIWFQN RRVKEKKVVS KSKAPHLHST
Experimental Info
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Sequence conflicti | 95 | D → E in AAF67760 (PubMed:10835276).Curated | 1 |
Natural variant
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_012357 | 50 | S → I. Corresponds to variant dbSNP:rs1867298Ensembl. | 1 | |
Natural variantiVAR_079380 | 271 | Q → R in ECTD9; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs1383255506Ensembl. | 1 |
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi Links Updated | AF255676 mRNA Translation: AAF67760.1 AF263466 mRNA Translation: AAF73439.1 BT009908 mRNA Translation: AAP88910.1 BC090850 mRNA Translation: AAH90850.1 AK024027 mRNA Translation: BAB14786.1 |
CCDSi | CCDS8865.1 |
PIRi | S14934 |
RefSeqi | NP_059106.2, NM_017410.2 |
Genome annotation databases
Ensembli | ENST00000243056.5; ENSP00000243056.3; ENSG00000123364.5 |
GeneIDi | 3229 |
KEGGi | hsa:3229 |
MANE-Selecti | ENST00000243056.5; ENSP00000243056.3; NM_017410.3; NP_059106.2 |
UCSCi | uc001sei.4, human |
Similar proteinsi
Cross-referencesi
Web resourcesi
Atlas of Genetics and Cytogenetics in Oncology and Haematology |
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi Links Updated | AF255676 mRNA Translation: AAF67760.1 AF263466 mRNA Translation: AAF73439.1 BT009908 mRNA Translation: AAP88910.1 BC090850 mRNA Translation: AAH90850.1 AK024027 mRNA Translation: BAB14786.1 |
CCDSi | CCDS8865.1 |
PIRi | S14934 |
RefSeqi | NP_059106.2, NM_017410.2 |
3D structure databases
AlphaFoldDBi | P31276 |
SMRi | P31276 |
ModBasei | Search... |
Protein-protein interaction databases
BioGRIDi | 109469, 18 interactors |
IntActi | P31276, 24 interactors |
MINTi | P31276 |
STRINGi | 9606.ENSP00000243056 |
PTM databases
iPTMneti | P31276 |
PhosphoSitePlusi | P31276 |
Genetic variation databases
BioMutai | HOXC13 |
DMDMi | 20141539 |
Proteomic databases
EPDi | P31276 |
MassIVEi | P31276 |
MaxQBi | P31276 |
PaxDbi | P31276 |
PeptideAtlasi | P31276 |
PRIDEi | P31276 |
ProteomicsDBi | 54776 |
Protocols and materials databases
Antibodypediai | 27302, 118 antibodies from 27 providers |
DNASUi | 3229 |
Genome annotation databases
Ensembli | ENST00000243056.5; ENSP00000243056.3; ENSG00000123364.5 |
GeneIDi | 3229 |
KEGGi | hsa:3229 |
MANE-Selecti | ENST00000243056.5; ENSP00000243056.3; NM_017410.3; NP_059106.2 |
UCSCi | uc001sei.4, human |
Organism-specific databases
CTDi | 3229 |
DisGeNETi | 3229 |
GeneCardsi | HOXC13 |
HGNCi | HGNC:5125, HOXC13 |
HPAi | ENSG00000123364, Tissue enriched (skin) |
MalaCardsi | HOXC13 |
MIMi | 142976, gene 614931, phenotype |
neXtProti | NX_P31276 |
OpenTargetsi | ENSG00000123364 |
Orphaneti | 69084, Pure hair and nail ectodermal dysplasia |
PharmGKBi | PA29400 |
VEuPathDBi | HostDB:ENSG00000123364 |
GenAtlasi | Search... |
Phylogenomic databases
eggNOGi | KOG0487, Eukaryota |
GeneTreei | ENSGT01040000240513 |
HOGENOMi | CLU_059940_0_0_1 |
InParanoidi | P31276 |
OMAi | SKNNHMH |
OrthoDBi | 1190384at2759 |
PhylomeDBi | P31276 |
TreeFami | TF330813 |
Enzyme and pathway databases
PathwayCommonsi | P31276 |
SignaLinki | P31276 |
SIGNORi | P31276 |
Miscellaneous databases
BioGRID-ORCSi | 3229, 26 hits in 1106 CRISPR screens |
ChiTaRSi | HOXC13, human |
GeneWikii | HOXC13 |
GenomeRNAii | 3229 |
Pharosi | P31276, Tbio |
PROi | PR:P31276 |
RNActi | P31276, protein |
SOURCEi | Search... |
Gene expression databases
Bgeei | ENSG00000123364, Expressed in islet of Langerhans and 93 other tissues |
Genevisiblei | P31276, HS |
Family and domain databases
CDDi | cd00086, homeodomain, 1 hit |
InterProi | View protein in InterPro IPR009057, Homeobox-like_sf IPR017970, Homeobox_CS IPR001356, Homeobox_dom IPR022067, HoxA13_N |
Pfami | View protein in Pfam PF00046, Homeodomain, 1 hit PF12284, HoxA13_N, 1 hit |
SMARTi | View protein in SMART SM00389, HOX, 1 hit |
SUPFAMi | SSF46689, SSF46689, 1 hit |
PROSITEi | View protein in PROSITE PS00027, HOMEOBOX_1, 1 hit PS50071, HOMEOBOX_2, 1 hit |
MobiDBi | Search... |
Entry informationi
Entry namei | HXC13_HUMAN | |
Accessioni | P31276Primary (citable) accession number: P31276 Secondary accession number(s): Q5BL02 Q9NYD5 | |
Entry historyi | Integrated into UniProtKB/Swiss-Prot: | July 1, 1993 |
Last sequence update: | January 23, 2002 | |
Last modified: | May 25, 2022 | |
This is version 197 of the entry and version 3 of the sequence. See complete history. | ||
Entry statusi | Reviewed (UniProtKB/Swiss-Prot) | |
Annotation program | Chordata Protein Annotation Program | |
Disclaimer | Any 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
Reference proteomeDocuments
- Vertebrate homeotic Hox proteins
Nomenclature of vertebrate homeotic Hox proteins and list of entries - Human chromosome 12
Human chromosome 12: entries, gene names and cross-references to MIM - Human entries with genetic variants
List of human entries with genetic variants - Human variants curated from literature reports
Index of human variants curated from literature reports - MIM cross-references
Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot - SIMILARITY comments
Index of protein domains and families