Seroatlas · Human Serome Atlas

BMAL1

Basic helix-loop-helix ARNT-like protein 1

Also known as: ARNTL, ARNTL1, bHLHe5, BMAL1_HUMAN, JAP3, MOP3, PASD3

Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene

Protein identityUniProt · HPA

UniProt accession
O00327
Gene
BMAL1
Ensembl
ENSG00000133794
Chromosome
11
Canonical length
626 aa
Protein class
Predicted intracellular proteins, Transcription factors
Subcellular location
Nucleoplasm,Vesicles

OverviewNCBI Gene

The protein encoded by this gene is a basic helix-loop-helix protein that forms a heterodimer with CLOCK. This heterodimer binds E-box enhancer elements upstream of Period (PER1, PER2, PER3) and Cryptochrome (CRY1, CRY2) genes and activates transcription of these genes. PER and CRY proteins heterodimerize and repress their own transcription by interacting in a feedback loop with CLOCK/ARNTL complexes. Defects in this gene have been linked to infertility, problems with gluconeogenesis and lipogenesis, and altered sleep patterns. The protein regulates interferon-stimulated gene expression and is an important factor in viral infection, including COVID-19. [provided by RefSeq, Oct 2021]

Canonical amino-acid sequenceUniProt

626 residues, UniProt reviewed canonical sequence.

>O00327|BMAL1
     1  MADQRMDISS TISDFMSPGP TDLLSSSLGT SGVDCNRKRK GSSTDYQESM DTDKDDPHGR
    61  LEYTEHQGRI KNAREAHSQI EKRRRDKMNS FIDELASLVP TCNAMSRKLD KLTVLRMAVQ
   121  HMKTLRGATN PYTEANYKPT FLSDDELKHL ILRAADGFLF VVGCDRGKIL FVSESVFKIL
   181  NYSQNDLIGQ SLFDYLHPKD IAKVKEQLSS SDTAPRERLI DAKTGLPVKT DITPGPSRLC
   241  SGARRSFFCR MKCNRPSVKV EDKDFPSTCS KKKADRKSFC TIHSTGYLKS WPPTKMGLDE
   301  DNEPDNEGCN LSCLVAIGRL HSHVVPQPVN GEIRVKSMEY VSRHAIDGKF VFVDQRATAI
   361  LAYLPQELLG TSCYEYFHQD DIGHLAECHR QVLQTREKIT TNCYKFKIKD GSFITLRSRW
   421  FSFMNPWTKE VEYIVSTNTV VLANVLEGGD PTFPQLTASP HSMDSMLPSG EGGPKRTHPT
   481  VPGIPGGTRA GAGKIGRMIA EEIMEIHRIR GSSPSSCGSS PLNITSTPPP DASSPGGKKI
   541  LNGGTPDIPS SGLLSGQAQE NPGYPYSDSS SILGENPHIG IDMIDNDQGS SSPSNDEAAM
   601  AVIMSLLEAD AGLGGPVDFS DLPWPL

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against BMAL1 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)
0.49
Highest tissue expression
22 nTPM

Expression across tissuesHPA

Tissue

  • retina: 22 nTPM
  • skeletal muscle: 20 nTPM
  • ovary: 14 nTPM
  • thymus: 13 nTPM
  • thyroid gland: 13 nTPM
  • skin: 13 nTPM

Single-cell type

  • neutrophils: 174 nCPM
  • thymic myoid cells: 109 nCPM
  • retinal amacrine cells: 106 nCPM
  • rod photoreceptor cells: 104 nCPM
  • nk-cells: 103 nCPM
  • innate lymphoid cells: 102 nCPM

Immune cell

  • MAIT T-cell: 25 nTPM
  • neutrophil: 25 nTPM
  • gdT-cell: 18 nTPM
  • eosinophil: 18 nTPM
  • memory CD4 T-cell: 17 nTPM
  • memory CD8 T-cell: 16 nTPM

Brain region

  • cerebral cortex: 25 nTPM
  • white matter: 23 nTPM
  • cerebellum: 19 nTPM
  • basal ganglia: 18 nTPM
  • thalamus: 18 nTPM
  • choroid plexus: 15 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)
0.28
gnomAD pLI
0.99
DepMap mean gene effect
-0.12
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

Molecular functions

Cellular components

Protein domainsUniProt · Pfam · InterPro

KeywordsUniProt

InteractionsUniProt · HPA

Protein binding partners of BMAL1 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 BMAL1 as an antibody target. Whether an autoantibody or antibody against BMAL1 could matter depends on whether native BMAL1 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

BMAL1 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 BMAL1 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

Canonical record: https://seroatlas.com/gene/BMAL1. Study-independent annotations aggregated from UniProt, Human Protein Atlas, PubMed, IEDB, Pfam, InterPro, Gene Ontology, AlphaFold, gnomAD, DepMap, ClinVar, TCGA. Catalog release seroatlas-reviewed-human-uniprot-20260313.

Seroatlas is the reference for exploring autoantibody and antibody serology at the human-protein level: the autoreactome and human serome, multiplex serology (HuProt, HuScan, VirScan, PhIP-Seq).

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