HOXC13

Protein identityUniProt · HPA

UniProt accession

P31276

Gene

HOXC13

Ensembl

ENSG00000123364

Chromosome

12

Canonical length

330 aa

Protein class

Cancer-related genes, Disease related genes, Human disease related genes, Predicted intracellular proteins, Transcription factors

OverviewNCBI Gene

This gene belongs to the homeobox family of genes. The homeobox genes encode a highly conserved family of transcription factors that play an important role in morphogenesis in all multicellular organisms. Mammals possess four similar homeobox gene clusters, HOXA, HOXB, HOXC and HOXD, which are located on different chromosomes and consist of 9 to 11 genes arranged in tandem. This gene is one of several homeobox HOXC genes located in a cluster on chromosome 12. The product of this gene may play a role in the development of hair, nail, and filiform papilla. [provided by RefSeq, Jul 2008]

Canonical amino-acid sequenceUniProt

330 residues, UniProt reviewed canonical sequence.

>P31276|HOXC13
     1  MTTSLLLHPR WPESLMYVYE DSAAESGIGG GGGGGGGGTG GAGGGCSGAS PGKAPSMDGL
    61  GSSCPASHCR DLLPHPVLGR PPAPLGAPQG AVYTDIPAPE AARQCAPPPA PPTSSSATLG
   121  YGYPFGGSYY GCRLSHNVNL QQKPCAYHPG DKYPEPSGAL PGDDLSSRAK EFAFYPSFAS
   181  SYQAMPGYLD VSVVPGISGH PEPRHDALIP VEGYQHWALS NGWDSQVYCS KEQSQSAHLW
   241  KSPFPDVVPL QPEVSSYRRG RKKRVPYTKV QLKELEKEYA ASKFITKEKR RRISATTNLS
   301  ERQVTIWFQN RRVKEKKVVS KSKAPHLHST

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against HOXC13 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.

Antibody reachability

Intracellular

Secreted

No

Transmembrane segments

0

Mean surface accessibility (rSASA)

0.67

Highest tissue expression

9.2 nTPM

Expression across tissuesHPA

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about HOXC13.

Disease | AllUniProt

Conditions HOXC13 is implicated in, by any mechanism.

• Ectodermal dysplasia 9, hair/nail type (ECTD9) MIM:614931

Disease | GeneticClinVar

5 pathogenic / likely-pathogenic of 93 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

• Ectodermal dysplasia 9, hair/nail type

Genetic constraint and essentialitygnomAD · DepMap

Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.

gnomAD LOEUF (loss-of-function intolerance)

0.66

gnomAD pLI

0.42

gnomAD missense Z

0.55

DepMap mean gene effect

-0.2

DepMap dependency class

selective

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 4% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

• anatomical structure morphogenesis
• anterior/posterior pattern specification
• hair follicle development
• nail development
• positive regulation of DNA-templated transcription
• regulation of transcription by RNA polymerase II
• tongue morphogenesis

Molecular functions

• chromatin binding
• DNA-binding transcription activator activity, RNA polymerase II-specific
• DNA-binding transcription factor activity
• DNA-binding transcription factor activity, RNA polymerase II-specific
• DNA-binding transcription factor binding
• RNA polymerase II cis-regulatory region sequence-specific DNA binding
• sequence-specific double-stranded DNA binding
• transcription cis-regulatory region binding

Cellular components

• chromatin
• nucleus

Protein domainsUniProt · Pfam · InterPro

• Homeodomain
• Homedomain-like superfamily
• Homeobox, conserved site
• Homeobox protein Hox1A3 N-terminal
• Anterior-posterior axis regulatory homeobox
• Homeodomain
• Hox protein A13 N terminal

KeywordsUniProt

• Developmental protein
• DNA-binding
• Ectodermal dysplasia
• Homeobox
• Nucleus
• Transcription
• Transcription regulation