InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: HOXC13

Summary

InnateDB Protein

IDBP-37257.5

Last Modified

2014-10-13 [Report errors or provide feedback]

Gene Symbol

HOXC13

Protein Name

homeobox C13

Synonyms

ECTD9; HOX3; HOX3G;

Species

Homo sapiens

Ensembl Protein

ENSP00000243056

InnateDB Gene

IDBG-37255 (HOXC13)

Protein Structure

UniProt Annotation

Function

Transcription factor which plays a role in hair follicle differentiation. Regulates FOXQ1 expression and that of other hair-specific genes (By similarity). {ECO:0000250}.

Subcellular Localization

Nucleus.

Disease Associations

Ectodermal dysplasia 9, hair/nail type (ECTD9) [MIM:614931]: A 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). {ECO:0000269PubMed:23063621}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Tissue Specificity

Comments

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 7 experimentally validated interaction(s) in this database.
They are also associated with 1 interaction(s) predicted by orthology.

Experimentally validated
Total	7 [view]
Protein-Protein	7 [view]
Protein-DNA	0
Protein-RNA	0
DNA-DNA	0
RNA-RNA	0
DNA-RNA	0

Predicted by orthology
Total	1 [view]

Gene Ontology

Molecular Function

Accession	GO Term
GO:0001077	RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription
GO:0003677	DNA binding
GO:0003682	chromatin binding
GO:0005515	protein binding
GO:0043565	sequence-specific DNA binding

Biological Process

GO:0001942	hair follicle development
GO:0006351	transcription, DNA-templated
GO:0009653	anatomical structure morphogenesis
GO:0009952	anterior/posterior pattern specification
GO:0035878	nail development
GO:0043587	tongue morphogenesis
GO:0045944	positive regulation of transcription from RNA polymerase II promoter