HOXA1

Protein identityUniProt · HPA

UniProt accession

P49639

Gene

HOXA1

Canonical length

335 aa

Protein class

Human disease related genes, Predicted intracellular proteins

OverviewNCBI Gene

No narrative summary is available for HOXA1 in this catalog release; identity and structured annotations are shown without generated factual claims.

Canonical amino-acid sequenceUniProt

335 residues, UniProt reviewed canonical sequence.

>P49639|HOXA1
     1  MDNARMNSFL EYPILSSGDS GTCSARAYPS DHRITTFQSC AVSANSCGGD DRFLVGRGVQ
    61  IGSPHHHHHH HHRHPQPATY QTSGNLGVSY SHSSCGPSYG SQNFSAPYSP YALNQEADVS
   121  GGYPQCAPAV YSGNLSSPMV QHHHHHQGYA GGAVGSPQYI HHSYGQEHQS LALATYNNSL
   181  SPLHASHQEA CRSPASETSS PAQTFDWMKV KRNPPKTGKV GEYGYLGQPN AVRTNFTTKQ
   241  LTELEKEFHF NKYLTRARRV EIAASLQLNE TQVKIWFQNR RMKQKKREKE GLLPISPATP
   301  PGNDEKAEES SEKSSSSPCV PSPGSSTSDT LTTSH

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against HOXA1 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

5 nTPM

Expression across tissuesHPA

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about HOXA1.

Disease | AllUniProt

Conditions HOXA1 is implicated in, by any mechanism.

• Athabaskan brainstem dysgenesis syndrome (ABDS) MIM:601536
• Bosley-Salih-Alorainy syndrome (BSAS) MIM:601536

Disease | GeneticClinVar

5 pathogenic / likely-pathogenic of 121 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

• Bosley-Salih-Alorainy syndrome
• ATHABASKAN BRAINSTEM DYSGENESIS 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)

0.63

gnomAD pLI

0.29

gnomAD missense Z

-0.1

DepMap mean gene effect

0.02

DepMap dependency class

selective

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 8% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

• abducens nerve formation
• anatomical structure morphogenesis
• artery development
• artery morphogenesis
• cochlea development
• cochlea morphogenesis
• cognition
• embryonic neurocranium morphogenesis
• inner ear development
• neuromuscular process
• optokinetic behavior
• outer ear morphogenesis
• positive regulation of transcription by RNA polymerase II
• regulation of behavior
• regulation of transcription by RNA polymerase II
• sensory perception of sound
• semicircular canal formation

Molecular functions

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

Cellular components

• chromatin
• nucleus

Protein domainsUniProt · Pfam · InterPro

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

KeywordsUniProt

• Autism spectrum disorder
• Developmental protein
• DNA-binding
• Homeobox
• Nucleus
• Transcription
• Transcription regulation

InteractionsUniProt · HPA

Protein binding partners of HOXA1 in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.

• OGT