BHLHE40
Class E basic helix-loop-helix protein 40
Also known as: BHE40_HUMAN, BHLHB2, Clast5, DEC1, SHARP2, STRA13
Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene
Protein identityUniProt · HPA
- UniProt accession
- O14503
- Gene
- BHLHE40
- Ensembl
- ENSG00000134107
- Chromosome
- 3
- Canonical length
- 412 aa
- Protein class
- Predicted intracellular proteins, Transcription factors
- Subcellular location
- Nuclear bodies
- Quaternary structure
- Homodimer
OverviewNCBI Gene
This gene encodes a basic helix-loop-helix protein expressed in various tissues. The encoded protein can interact with ARNTL or compete for E-box binding sites in the promoter of PER1 and repress CLOCK/ARNTL's transactivation of PER1. This gene is believed to be involved in the control of circadian rhythm and cell differentiation. [provided by RefSeq, Feb 2014]
Canonical amino-acid sequenceUniProt
412 residues, UniProt reviewed canonical sequence.
>O14503|BHLHE40
1 MERIPSAQPP PACLPKAPGL EHGDLPGMYP AHMYQVYKSR RGIKRSEDSK ETYKLPHRLI
61 EKKRRDRINE CIAQLKDLLP EHLKLTTLGH LEKAVVLELT LKHVKALTNL IDQQQQKIIA
121 LQSGLQAGEL SGRNVETGQE MFCSGFQTCA REVLQYLAKH ENTRDLKSSQ LVTHLHRVVS
181 ELLQGGTSRK PSDPAPKVMD FKEKPSSPAK GSEGPGKNCV PVIQRTFAHS SGEQSGSDTD
241 TDSGYGGESE KGDLRSEQPC FKSDHGRRFT MGERIGAIKQ ESEEPPTKKN RMQLSDDEGH
301 FTSSDLISSP FLGPHPHQPP FCLPFYLIPP SATAYLPMLE KCWYPTSVPV LYPGLNASAA
361 ALSSFMNPDK ISAPLLMPQR LPSPLPAHPS VDSSVLLQAL KPIPPLNLET KDLocalizationUniProt · AlphaFold · HPA
Whether an antibody against BHLHE40 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)
- 0.64
- Highest tissue expression
- 372 nTPM
Expression across tissuesHPA
Tissue
- esophagus: 372 nTPM
- vagina: 291 nTPM
- skeletal muscle: 270 nTPM
- cervix: 245 nTPM
- blood vessel: 238 nTPM
- skin: 218 nTPM
Single-cell type
- esophageal apical cells: 1,201 nCPM
- esophageal suprabasal cells: 739 nCPM
- endometrial luminal cells: 594 nCPM
- prostatic hillock cells: 484 nCPM
- esophageal basal cells: 438 nCPM
- epididymal basal cells: 434 nCPM
Immune cell
- basophil: 102 nTPM
- NK-cell: 55 nTPM
- eosinophil: 55 nTPM
- MAIT T-cell: 25 nTPM
- gdT-cell: 25 nTPM
- plasmacytoid DC: 20 nTPM
Brain region
- medulla oblongata: 93 nTPM
- thalamus: 88 nTPM
- midbrain: 82 nTPM
- cerebral cortex: 82 nTPM
- choroid plexus: 69 nTPM
- spinal cord: 68 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)
- 0.19
- gnomAD pLI
- 0.99
- gnomAD missense Z
- 0.79
- DepMap mean gene effect
- 0.07
- 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
- anterior/posterior pattern specification
- circadian regulation of gene expression
- circadian rhythm
- entrainment of circadian clock by photoperiod
- negative regulation of DNA-templated transcription
- negative regulation of transcription by RNA polymerase II
- regulation of circadian rhythm
- regulation of DNA-templated transcription
- regulation of neurogenesis
- regulation of transcription by RNA polymerase II
Molecular functions
- bHLH transcription factor binding
- DNA-binding transcription factor activity
- DNA-binding transcription factor activity, RNA polymerase II-specific
- DNA-binding transcription repressor activity, RNA polymerase II-specific
- E-box binding
- MRF binding
- protein domain specific binding
- protein heterodimerization activity
- protein homodimerization activity
- RNA polymerase II cis-regulatory region sequence-specific DNA binding
- RNA polymerase II-specific DNA-binding transcription factor binding
- sequence-specific double-stranded DNA binding
Cellular components
Protein domainsUniProt · Pfam · InterPro
KeywordsUniProt
InteractionsUniProt · HPA
Protein binding partners of BHLHE40 in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.
Antibody and autoantibody relevanceSeroatlas analysis
Seroatlas reads BHLHE40 as an antibody target. Whether an autoantibody or antibody against BHLHE40 could matter depends on whether native BHLHE40 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.
BHLHE40 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 BHLHE40 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.
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