BHLHE41
Class E basic helix-loop-helix protein 41
Also known as: BHE41_HUMAN, BHLHB3, DEC2, SHARP-1, SHARP1
Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene
Protein identityUniProt · HPA
- UniProt accession
- Q9C0J9
- Gene
- BHLHE41
- Ensembl
- ENSG00000123095
- Chromosome
- 12
- Canonical length
- 482 aa
- Protein class
- Predicted intracellular proteins, Transcription factors
- Subcellular location
- Nucleoplasm,Vesicles
- 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. Defects in this gene are associated with the short sleep phenotype. [provided by RefSeq, Feb 2014]
Canonical amino-acid sequenceUniProt
482 residues, UniProt reviewed canonical sequence.
>Q9C0J9|BHLHE41
1 MDEGIPHLQE RQLLEHRDFI GLDYSSLYMC KPKRSMKRDD TKDTYKLPHR LIEKKRRDRI
61 NECIAQLKDL LPEHLKLTTL GHLEKAVVLE LTLKHLKALT ALTEQQHQKI IALQNGERSL
121 KSPIQSDLDA FHSGFQTCAK EVLQYLSRFE SWTPREPRCV QLINHLHAVA TQFLPTPQLL
181 TQQVPLSKGT GAPSAAGSAA APCLERAGQK LEPLAYCVPV IQRTQPSAEL AAENDTDTDS
241 GYGGEAEARP DREKGKGAGA SRVTIKQEPP GEDSPAPKRM KLDSRGGGSG GGPGGGAAAA
301 AAALLGPDPA AAAALLRPDA ALLSSLVAFG GGGGAPFPQP AAAAAPFCLP FCFLSPSAAA
361 AYVQPFLDKS GLEKYLYPAA AAAPFPLLYP GIPAPAAAAA AAAAAAAAAA AFPCLSSVLS
421 PPPEKAGAAA ATLLPHEVAP LGAPHPQHPH GRTHLPFAGP REPGNPESSA QEDPSQPGKE
481 APLocalizationUniProt · AlphaFold · HPA
Whether an antibody against BHLHE41 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
- 114 nTPM
Expression across tissuesHPA
Tissue
- retina: 114 nTPM
- skeletal muscle: 87 nTPM
- spinal cord: 75 nTPM
- thyroid gland: 54 nTPM
- fallopian tube: 43 nTPM
- midbrain: 40 nTPM
Single-cell type
- microglia: 509 nCPM
- retinal bipolar cells: 316 nCPM
- müller glia: 295 nCPM
- rod photoreceptor cells: 230 nCPM
- epididymal efferent duct absorptive cells: 193 nCPM
- hofbauer cells: 192 nCPM
Immune cell
- memory B-cell: 2 nTPM
- naive B-cell: 0.6 nTPM
- basophil: 0 nTPM
- classical monocyte: 0 nTPM
- eosinophil: 0 nTPM
- gdT-cell: 0 nTPM
Brain region
- white matter: 136 nTPM
- medulla oblongata: 128 nTPM
- spinal cord: 125 nTPM
- pons: 109 nTPM
- cerebellum: 108 nTPM
- thalamus: 103 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)
- 0.21
- gnomAD pLI
- 0.99
- gnomAD missense Z
- 0.82
- DepMap mean gene effect
- -0.06
- DepMap dependency class
- selective
Cancer expressionTCGA
Across TCGA tumor cohorts, this protein is over-expressed in roughly 6% 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
- negative regulation of DNA-templated transcription
- negative regulation of myotube differentiation
- negative regulation of transcription by competitive promoter binding
- negative regulation of transcription by RNA polymerase II
- regulation of neurogenesis
- regulation of transcription by RNA polymerase II
Molecular functions
- bHLH transcription factor binding
- DNA-binding transcription factor activity, RNA polymerase II-specific
- DNA-binding transcription repressor activity, RNA polymerase II-specific
- E-box binding
- histone deacetylase binding
- MRF 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 BHLHE41 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 BHLHE41 as an antibody target. Whether an autoantibody or antibody against BHLHE41 could matter depends on whether native BHLHE41 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.
BHLHE41 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 BHLHE41 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.
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