HOXA13

Protein identityUniProt · HPA

UniProt accession

P31271

Gene

HOXA13

Ensembl

ENSG00000106031

Chromosome

7

Canonical length

388 aa

Protein class

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

Subcellular location

Nucleoplasm,Mitotic chromosome,Intermediate filaments

Quaternary structure

Homodimer

OverviewNCBI Gene

In vertebrates, the genes encoding the class of transcription factors called homeobox genes are found in clusters named A, B, C, and D on four separate chromosomes. Expression of these proteins is spatially and temporally regulated during embryonic development. This gene is part of the A cluster on chromosome 7 and encodes a DNA-binding transcription factor which may regulate gene expression, morphogenesis, and differentiation. Expansion of a polyalanine tract in the encoded protein can cause hand-foot-uterus syndrome, also known as hand-foot-genital syndrome. [provided by RefSeq, Jul 2008]

Canonical amino-acid sequenceUniProt

388 residues, UniProt reviewed canonical sequence.

>P31271|HOXA13
     1  MTASVLLHPR WIEPTVMFLY DNGGGLVADE LNKNMEGAAA AAAAAAAAAA AGAGGGGFPH
    61  PAAAAAGGNF SVAAAAAAAA AAAANQCRNL MAHPAPLAPG AASAYSSAPG EAPPSAAAAA
   121  AAAAAAAAAA AAASSSGGPG PAGPAGAEAA KQCSPCSAAA QSSSGPAALP YGYFGSGYYP
   181  CARMGPHPNA IKSCAQPASA AAAAAFADKY MDTAGPAAEE FSSRAKEFAF YHQGYAAGPY
   241  HHHQPMPGYL DMPVVPGLGG PGESRHEPLG LPMESYQPWA LPNGWNGQMY CPKEQAQPPH
   301  LWKSTLPDVV SHPSDASSYR RGRKKRVPYT KVQLKELERE YATNKFITKD KRRRISATTN
   361  LSERQVTIWF QNRRVKEKKV INKLKTTS

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against HOXA13 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

22 nTPM

Expression across tissuesHPA

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about HOXA13.

Disease | AllUniProt

Conditions HOXA13 is implicated in, by any mechanism.

• Hand-foot-genital syndrome (HFG) MIM:140000
• Guttmacher syndrome (GUTTS) MIM:176305

Disease | GeneticClinVar

11 pathogenic / likely-pathogenic of 253 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

• Hand-foot-genital syndrome
• Guttmacher syndrome

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)

0.31

gnomAD pLI

0.96

gnomAD missense Z

0.56

DepMap mean gene effect

0.03

DepMap dependency class

selective

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 5% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

• artery morphogenesis
• branching involved in prostate gland morphogenesis
• embryonic forelimb morphogenesis
• embryonic hindgut morphogenesis
• endothelial cell morphogenesis
• inner ear development
• male genitalia development
• mesenchymal cell apoptotic process
• mitotic nuclear division
• positive regulation of mesenchymal cell apoptotic process
• positive regulation of mitotic nuclear division
• regulation of BMP signaling pathway
• regulation of transcription by RNA polymerase II
• response to testosterone
• skeletal system development
• tissue homeostasis
• transcription by RNA polymerase II
• vasculogenesis
• ventricular septum development
• endothelial cell fate specification

Molecular functions

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

Cellular components

• chromatin
• chromosome
• intermediate filament cytoskeleton
• nucleoplasm

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
• Homeobox
• Nucleus
• Transcription
• Transcription regulation

InteractionsUniProt · HPA

Protein binding partners of HOXA13 in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.

• MEIS1
• MEIS2
• MEIS3