HOXB1

Protein identityUniProt · HPA

UniProt accession

P14653

Gene

HOXB1

Ensembl

ENSG00000120094

Chromosome

17

Canonical length

301 aa

Protein class

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

Subcellular location

Nucleoplasm

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, located on different chromosomes, consisting of 9 to 11 genes arranged in tandem. This gene is one of several homeobox HOXB genes located in a cluster on chromosome 17. [provided by RefSeq, Jul 2008]

Canonical amino-acid sequenceUniProt

301 residues, UniProt reviewed canonical sequence.

>P14653|HOXB1
     1  MDYNRMNSFL EYPLCNRGPS AYSAHSAPTS FPPSSAQAVD SYASEGRYGG GLSSPAFQQN
    61  SGYPAQQPPS TLGVPFPSSA PSGYAPAACS PSYGPSQYYP LGQSEGDGGY FHPSSYGAQL
   121  GGLSDGYGAG GAGPGPYPPQ HPPYGNEQTA SFAPAYADLL SEDKETPCPS EPNTPTARTF
   181  DWMKVKRNPP KTAKVSEPGL GSPSGLRTNF TTRQLTELEK EFHFNKYLSR ARRVEIAATL
   241  ELNETQVKIW FQNRRMKQKK REREEGRVPP APPGCPKEAA GDASDQSTCT SPEASPSSVT
   301  S

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against HOXB1 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)

0.66

Highest tissue expression

0.4 nTPM

Expression across tissuesHPA

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about HOXB1.

Disease | AllUniProt

Conditions HOXB1 is implicated in, by any mechanism.

• Facial paresis, hereditary congenital, 3 (HCFP3) MIM:614744

Disease | GeneticClinVar

3 pathogenic / likely-pathogenic of 67 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

• Facial paresis, hereditary congenital, 3

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)

0.72

gnomAD pLI

0.08

gnomAD missense Z

0.86

DepMap mean gene effect

-0.02

DepMap dependency class

none

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 3% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

• anatomical structure formation involved in morphogenesis
• anterior/posterior pattern specification
• embryonic skeletal system morphogenesis
• facial nerve structural organization
• facial nucleus development
• pattern specification process
• positive regulation of transcription by RNA polymerase II
• regulation of DNA-templated transcription
• regulation of transcription by RNA polymerase II
• rhombomere 4 development
• rhombomere 5 development

Molecular functions

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

Cellular components

• chromatin
• nucleoplasm
• nucleus

Protein domainsUniProt · Pfam · InterPro

• Homeodomain
• Homedomain-like superfamily
• Homeobox, conserved site
• Homeodomain, metazoa
• Homeobox protein Hox-A1/B1/D1
• Homeodomain

KeywordsUniProt

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