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BMAL1 (basic helix-loop-helix ARNT like 1)

Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
406
Gene nameGene Name - the full gene name approved by the HGNC.
Basic helix-loop-helix ARNT like 1
Gene symbolGene Symbol - the official gene symbol approved by the HGNC, which is a short abbreviated form of the gene name.
BMAL1
SynonymsGene synonyms aliases
ARNTL, ARNTL1, BMAL1c, JAP3, MOP3, PASD3, TIC, bHLHe5
ChromosomeChromosome number
11
Chromosome locationChromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
11p15.3
miRNAmiRNA information provided by mirtarbase database.
miRTarBase ID miRNA Experiments Reference
MIRT006653 hsa-miR-494-3p Luciferase reporter assay, qRT-PCR 21799909
MIRT006654 hsa-miR-142-3p Luciferase reporter assay, qRT-PCR 21799909
MIRT006654 hsa-miR-142-3p Luciferase reporter assay 22958478
MIRT018183 hsa-miR-335-5p Microarray 18185580
MIRT006654 hsa-miR-142-3p Microarray 17612493
Transcription factors
Transcription factor Regulation Reference
MTA1 Activation 24089055
NR1D1 Repression 21881539
Gene ontology (GO)Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0000785 Component Chromatin ISA
GO:0000976 Function Transcription regulatory region sequence-specific DNA binding ISS
GO:0000978 Function RNA polymerase II cis-regulatory region sequence-specific DNA binding IBA 21873635
GO:0000978 Function RNA polymerase II cis-regulatory region sequence-specific DNA binding ISS
GO:0000981 Function DNA-binding transcription factor activity, RNA polymerase II-specific IBA 21873635
Other IDsOther ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM
HGNC
e!Ensembl
Protein
UniProt ID O00327
Protein name Basic helix-loop-helix ARNT-like protein 1 (Aryl hydrocarbon receptor nuclear translocator-like protein 1) (Basic-helix-loop-helix-PAS protein MOP3) (Brain and muscle ARNT-like 1) (Class E basic helix-loop-helix protein 5) (bHLHe5) (Member of PAS protein
Protein function Transcriptional activator which forms a core component of the circadian clock. The circadian clock, an internal time-keeping system, regulates various physiological processes through the generation of approximately 24 hour circadian rhythms in g
PDB 4H10 , 8RW6 , 8RW8
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00010 HLH
73 126
Helix-loop-helix DNA-binding domain
Domain
PF00989 PAS
146 253
PAS fold
Domain
PF14598 PAS_11
337 444
Domain
Sequence
MADQRMDISSTISDFMSPGPTDLLSSSLGTSGVDCNRKRKGSSTDYQESMDTDKDDPHGR
LEYTEHQGRIKNAREAHSQIEKRRRDKMNSFIDELASLVPTCNAMSRKLDKLTVLRMAVQ
HMKTLR
GATNPYTEANYKPTFLSDDELKHLILRAADGFLFVVGCDRGKILFVSESVFKIL
NYSQNDLIGQSLFDYLHPKDIAKVKEQLSSSDTAPRERLIDAKTGLPVKTDITPGPSRLC
SGARRSFFCRMKC
NRPSVKVEDKDFPSTCSKKKADRKSFCTIHSTGYLKSWPPTKMGLDE
DNEPDNEGCNLSCLVAIGRLHSHVVPQPVNGEIRVKSMEYVSRHAIDGKFVFVDQRATAI
LAYLPQELLGTSCYEYFHQDDIGHLAECHRQVLQTREKITTNCYKFKIKDGSFITLRSRW
FSFMNPWTKEVEYIVSTNTVVLAN
VLEGGDPTFPQLTASPHSMDSMLPSGEGGPKRTHPT
VPGIPGGTRAGAGKIGRMIAEEIMEIHRIRGSSPSSCGSSPLNITSTPPPDASSPGGKKI
LNGGTPDIPSSGLLSGQAQENPGYPYSDSSSILGENPHIGIDMIDNDQGSSSPSNDEAAM
AVIMSLLEADAGLGGPVDFSDLPWPL
Sequence length 626
Interactions View interactions
PathwaysPathway information has different metabolic/signaling pathways associated with genes. Each record is hyperlinked to a complete information page which also includes links to the KEGG/Reactome pathway database.
 
KEGG
 
Reactome
  Circadian rhythm
Dopaminergic synapse
  BMAL1:CLOCK,NPAS2 activates circadian gene expression
Associated diseases
Causal
Disease name Disease term dbSNP ID References
Coronary artery disease Coronary Artery Disease rs137852988, rs121918313, rs121918529, rs121918531, rs137852340, rs405509, rs1555800701, rs1215189537 29212778, 28714975
Multiple congenital anomalies Multiple congenital anomalies rs1057517732 24652800
Unknown
Disease name Disease term dbSNP ID References
Bipolar disorder Bipolar Disorder 24679394, 24636202, 18228528, 24673294, 20072116
Mental depression Mental Depression, Depressive disorder rs587778876, rs587778877 24673294, 19693801, 19708722, 19708722, 19693801, 24673294
Mood disorder Mood Disorders 19708722, 20072116
Myeloid leukemia Myeloid Leukemia, Chronic 16999817

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