Entity Details

Primary name HXC13_HUMAN
Entity type UniProt
Source Source Link

Details

AccessionP31276
EntryNameHXC13_HUMAN
FullNameHomeobox protein Hox-C13
TaxID9606
Evidenceevidence at protein level
Length330
SequenceStatuscomplete
DateCreated1993-07-01
DateModified2021-06-02

Ontological Relatives

GenesHOXC13

GO terms

Show/Hide Table
GOName
GO:0000785 chromatin
GO:0000976 transcription cis-regulatory region binding
GO:0000978 RNA polymerase II cis-regulatory region sequence-specific DNA binding
GO:0000981 DNA-binding transcription factor activity, RNA polymerase II-specific
GO:0001228 DNA-binding transcription activator activity, RNA polymerase II-specific
GO:0001942 hair follicle development
GO:0003682 chromatin binding
GO:0003700 DNA-binding transcription factor activity
GO:0005634 nucleus
GO:0006357 regulation of transcription by RNA polymerase II
GO:0009653 anatomical structure morphogenesis
GO:0009952 anterior/posterior pattern specification
GO:0035878 nail development
GO:0043587 tongue morphogenesis
GO:0045893 positive regulation of transcription, DNA-templated
GO:0140297 DNA-binding transcription factor binding
GO:1990837 sequence-specific double-stranded DNA binding

Subcellular Location

Show/Hide Table
Subcellular Location
Nucleus

Domains

Show/Hide Table
DomainNameCategoryType
IPR001356 Homeobox domainDomainDomain
IPR009057 Homeobox-like domain superfamilyFamilyHomologous superfamily
IPR017970 Homeobox, conserved siteSiteConserved site
IPR022067 Homeobox protein Hox1A3 N-terminalDomainDomain

Diseases

Show/Hide Table
Disease IDSourceNameDescription
614931 OMIMEctodermal dysplasia 9, hair/nail type (ECTD9)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). The disease is caused by variants affecting the gene represented in this entry.