BARHL1
BarH-like 1 homeobox protein
Also known as: BARH1_HUMAN
Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene
Protein identityUniProt · HPA
- UniProt accession
- Q9BZE3
- Gene
- BARHL1
- Ensembl
- ENSG00000125492
- Chromosome
- 9
- Canonical length
- 327 aa
- Protein class
- Predicted intracellular proteins, Transcription factors
OverviewNCBI Gene
Enables sequence-specific double-stranded DNA binding activity. Predicted to be involved in regulation of transcription by RNA polymerase II. Predicted to act upstream of or within several processes, including negative regulation of outer hair cell apoptotic process; nervous system development; and sensory perception of sound. Predicted to be located in chromatin. Predicted to be active in nucleus. Biomarker of Alzheimer's disease; high grade glioma; and triple-receptor negative breast cancer. [provided by Alliance of Genome Resources, Jul 2025]
Canonical amino-acid sequenceUniProt
327 residues, UniProt reviewed canonical sequence.
>Q9BZE3|BARHL1
1 MEGSNGFGID SILSHRAGSP ALPKGDPLLG DCRSPLELSP RSESSSDCSS PASPGRDCLE
61 TGTPRPGGAS GPGLDSHLQP GQLSAPAQSR TVTSSFLIRD ILADCKPLAA CAPYSSSGQP
121 AAPEPGGRLA AKAAEDFRDK LDKSGSNASS DSEYKVKEEG DREISSSRDS PPVRLKKPRK
181 ARTAFTDHQL AQLERSFERQ KYLSVQDRME LAASLNLTDT QVKTWYQNRR TKWKRQTAVG
241 LELLAEAGNY SALQRMFPSP YFYPQSLVSN LDPGAALYLY RGPSAPPPAL QRPLVPRILI
301 HGLQGASEPP PPLPPLAGVL PRAAQPRLocalizationUniProt · AlphaFold · HPA
Whether an antibody against BARHL1 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)
- 0.61
- Highest tissue expression
- 33 nTPM
Expression across tissuesHPA
Tissue
- cerebellum: 33 nTPM
- midbrain: 2 nTPM
- spinal cord: 0.7 nTPM
- hypothalamus: 0.6 nTPM
- basal ganglia: 0.1 nTPM
- hippocampal formation: 0.1 nTPM
Single-cell type
- brain excitatory neurons: 7 nCPM
- mesothelial cells: 7 nCPM
- ependymal cells: 1.2 nCPM
- endometrial ciliated cells: 0.9 nCPM
- cardiomyocytes: 0.6 nCPM
- late primary spermatocytes: 0.5 nCPM
Immune cell
- basophil: 0 nTPM
- classical monocyte: 0 nTPM
- eosinophil: 0 nTPM
- gdT-cell: 0 nTPM
- intermediate monocyte: 0 nTPM
- MAIT T-cell: 0 nTPM
Brain region
- pons: 73 nTPM
- cerebellum: 39 nTPM
- medulla oblongata: 32 nTPM
- midbrain: 16 nTPM
- thalamus: 7.2 nTPM
- hypothalamus: 4.4 nTPM
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)
- 0.77
- gnomAD pLI
- 0.15
- gnomAD missense Z
- 1.09
- DepMap mean gene effect
- -0.06
- DepMap dependency class
- selective
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
- midbrain development
- neuron migration
- outer hair cell apoptotic process
- regulation of transcription by RNA polymerase II
- sensory perception of sound
- negative regulation of outer hair cell apoptotic process
Molecular functions
- DNA-binding transcription activator activity, RNA polymerase II-specific
- DNA-binding transcription factor activity, RNA polymerase II-specific
- RNA polymerase II transcription regulatory region sequence-specific DNA binding
- sequence-specific double-stranded DNA binding
Cellular components
Protein domainsUniProt · Pfam · InterPro
KeywordsUniProt
Antibody and autoantibody relevanceSeroatlas analysis
Seroatlas reads BARHL1 as an antibody target. Whether an autoantibody or antibody against BARHL1 could matter depends on whether native BARHL1 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.
BARHL1 is annotated as predominantly intracellular. Intracellular proteins are common autoantibody markers, becoming visible to the immune system after cell injury or altered processing, but are usually markers of disease rather than direct drivers.
Annotation status
The present source text does not explicitly label BARHL1 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.
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