• Gene id: 406

Gene Summary

• Gene Symbol: ARNTL   Gene   UCSC   Ensembl
• Aliases: BMAL1, BMAL1c, JAP3, MOP3, PASD3, TIC, bHLHe5
• Gene name: aryl hydrocarbon receptor nuclear translocator like
• Alternate names: aryl hydrocarbon receptor nuclear translocator-like protein 1, ARNT-like protein 1, brain and muscle, PAS domain containing 3, PAS domain-containing protein 3, bHLH-PAS protein JAP3, basic helix-loop-helix family member e5, basic-helix-loop-helix-PAS orphan MOP,
• Gene location: 11p15.3 (13276551: 13387267)     Exons: 25     NC_000011.10
• Gene summary(Entrez): 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

SNPs

rs11614913

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000012.12   g.53991815C>T
NC_000012.11   g.54385599C>T
NR_029617.1   n.78C>T|SEQ=[C/T]|GENE=MIR196A2

Protein Summary

• Protein general information: O00327  
  • Name: 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 3) (PAS domain containing protein 3) (bHLH PA
  • Length: 626  
  • Mass: 68762
  • Tissue specificity: Hair follicles (at protein level). Highly expressed in the adult brain, skeletal muscle and heart. {ECO
• Sequence:

  MADQRMDISSTISDFMSPGPTDLLSSSLGTSGVDCNRKRKGSSTDYQESMDTDKDDPHGRLEYTEHQGRIKNARE
  AHSQIEKRRRDKMNSFIDELASLVPTCNAMSRKLDKLTVLRMAVQHMKTLRGATNPYTEANYKPTFLSDDELKHL
  ILRAADGFLFVVGCDRGKILFVSESVFKILNYSQNDLIGQSLFDYLHPKDIAKVKEQLSSSDTAPRERLIDAKTG
  LPVKTDITPGPSRLCSGARRSFFCRMKCNRPSVKVEDKDFPSTCSKKKADRKSFCTIHSTGYLKSWPPTKMGLDE
  DNEPDNEGCNLSCLVAIGRLHSHVVPQPVNGEIRVKSMEYVSRHAIDGKFVFVDQRATAILAYLPQELLGTSCYE
  YFHQDDIGHLAECHRQVLQTREKITTNCYKFKIKDGSFITLRSRWFSFMNPWTKEVEYIVSTNTVVLANVLEGGD
  PTFPQLTASPHSMDSMLPSGEGGPKRTHPTVPGIPGGTRAGAGKIGRMIAEEIMEIHRIRGSSPSSCGSSPLNIT
  STPPPDASSPGGKKILNGGTPDIPSSGLLSGQAQENPGYPYSDSSSILGENPHIGIDMIDNDQGSSSPSNDEAAM
  AVIMSLLEADAGLGGPVDFSDLPWPL

• Structural information:
  • Protein Domains: (72..12-)
    (/note="bHLH-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00981-)
    (143..21-)
    (/note="PAS-1)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00140-)
    (326..39-)
    (/note="PAS-2)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00140-)
    (-)
  • Interpro: IPR011598  IPR036638  IPR001067  IPR001610  IPR000014   IPR035965  IPR013767  
  • Prosite: PS50888 PS50112
  • CDD: cd00083 cd00130
  • PDB: 4H10
  • PDBsum: 4H10
  • DIP: 46008
  • STRING: ENSP00000384517
• Other Databases: GeneCards:  ARNTL  Malacards:  ARNTL

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0000981	DNA-binding transcription factor activity, RNA polymerase II-specific	ISM	molecular function
GO:0000790	nuclear chromatin	ISA	cellular component
GO:0000981	DNA-binding transcription factor activity, RNA polymerase II-specific	ISA	molecular function
GO:0045893	positive regulation of transcription, DNA-templated	IDA	biological process
GO:0045893	positive regulation of transcription, DNA-templated	IDA	biological process
GO:0045893	positive regulation of transcription, DNA-templated	IDA	biological process
GO:0070888	E-box binding	IDA	molecular function
GO:0070888	E-box binding	IDA	molecular function
GO:0051775	response to redox state	IDA	biological process
GO:0032922	circadian regulation of gene expression	IDA	biological process
GO:0005634	nucleus	IDA	cellular component
GO:0003677	DNA binding	IDA	molecular function
GO:0045893	positive regulation of transcription, DNA-templated	IMP	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0070491	repressing transcription factor binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:2001016	positive regulation of skeletal muscle cell differentiation	ISS	biological process
GO:2000772	regulation of cellular senescence	ISS	biological process
GO:0090263	positive regulation of canonical Wnt signaling pathway	ISS	biological process
GO:0050796	regulation of insulin secretion	ISS	biological process
GO:0050767	regulation of neurogenesis	ISS	biological process
GO:0043161	proteasome-mediated ubiquitin-dependent protein catabolic process	ISS	biological process
GO:0033391	chromatoid body	ISS	cellular component
GO:0032922	circadian regulation of gene expression	ISS	biological process
GO:0032007	negative regulation of TOR signaling	ISS	biological process
GO:0006355	regulation of transcription, DNA-templated	ISS	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:1901985	positive regulation of protein acetylation	IMP	biological process
GO:2000323	negative regulation of glucocorticoid receptor signaling pathway	ISS	biological process
GO:2000074	regulation of type B pancreatic cell development	ISS	biological process
GO:0090403	oxidative stress-induced premature senescence	ISS	biological process
GO:0051726	regulation of cell cycle	ISS	biological process
GO:0045892	negative regulation of transcription, DNA-templated	ISS	biological process
GO:0045599	negative regulation of fat cell differentiation	ISS	biological process
GO:0043565	sequence-specific DNA binding	ISS	molecular function
GO:0042753	positive regulation of circadian rhythm	ISS	biological process
GO:0042634	regulation of hair cycle	IMP	biological process
GO:0007283	spermatogenesis	ISS	biological process
GO:0000978	RNA polymerase II cis-regulatory region sequence-specific DNA binding	ISS	molecular function
GO:0000976	transcription regulatory region sequence-specific DNA binding	ISS	molecular function
GO:0003700	DNA-binding transcription factor activity	IEA	molecular function
GO:0005634	nucleus	IEA	cellular component
GO:0005667	transcription regulator complex	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0006355	regulation of transcription, DNA-templated	IEA	biological process
GO:0046983	protein dimerization activity	IEA	molecular function
GO:0048511	rhythmic process	IEA	biological process
GO:0005634	nucleus	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0003677	DNA binding	IEA	molecular function
GO:0007623	circadian rhythm	TAS	biological process
GO:0045944	positive regulation of transcription by RNA polymerase II	IGI	biological process
GO:0045944	positive regulation of transcription by RNA polymerase II	IGI	biological process
GO:0045944	positive regulation of transcription by RNA polymerase II	IGI	biological process
GO:0045944	positive regulation of transcription by RNA polymerase II	IGI	biological process
GO:0005667	transcription regulator complex	IPI	cellular component
GO:0005667	transcription regulator complex	IPI	cellular component
GO:0005667	transcription regulator complex	IPI	cellular component
GO:0005667	transcription regulator complex	IPI	cellular component
GO:0003677	DNA binding	IGI	molecular function
GO:0007623	circadian rhythm	TAS	biological process
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:2000323	negative regulation of glucocorticoid receptor signaling pathway	IEA	biological process
GO:2000074	regulation of type B pancreatic cell development	IEA	biological process
GO:1901985	positive regulation of protein acetylation	IEA	biological process
GO:0090403	oxidative stress-induced premature senescence	IEA	biological process
GO:0060137	maternal process involved in parturition	IEA	biological process
GO:0051726	regulation of cell cycle	IEA	biological process
GO:0045893	positive regulation of transcription, DNA-templated	IEA	biological process
GO:0045892	negative regulation of transcription, DNA-templated	IEA	biological process
GO:0045599	negative regulation of fat cell differentiation	IEA	biological process
GO:0043565	sequence-specific DNA binding	IEA	molecular function
GO:0043425	bHLH transcription factor binding	IEA	molecular function
GO:0042753	positive regulation of circadian rhythm	IEA	biological process
GO:0007283	spermatogenesis	IEA	biological process
GO:0003700	DNA-binding transcription factor activity	IEA	molecular function
GO:0001228	DNA-binding transcription activator activity, RNA polymerase II-specific	IEA	molecular function
GO:0000978	RNA polymerase II cis-regulatory region sequence-specific DNA binding	IEA	molecular function
GO:0000976	transcription regulatory region sequence-specific DNA binding	IEA	molecular function
GO:2001016	positive regulation of skeletal muscle cell differentiation	IEA	biological process
GO:2000772	regulation of cellular senescence	IEA	biological process
GO:0120163	negative regulation of cold-induced thermogenesis	IEA	biological process
GO:0090263	positive regulation of canonical Wnt signaling pathway	IEA	biological process
GO:0070888	E-box binding	IEA	molecular function
GO:0051775	response to redox state	IEA	biological process
GO:0050796	regulation of insulin secretion	IEA	biological process
GO:0050767	regulation of neurogenesis	IEA	biological process
GO:0046982	protein heterodimerization activity	IEA	molecular function
GO:0045944	positive regulation of transcription by RNA polymerase II	IEA	biological process
GO:0043161	proteasome-mediated ubiquitin-dependent protein catabolic process	IEA	biological process
GO:0042176	regulation of protein catabolic process	IEA	biological process
GO:0033391	chromatoid body	IEA	cellular component
GO:0032922	circadian regulation of gene expression	IEA	biological process
GO:0032007	negative regulation of TOR signaling	IEA	biological process
GO:0016604	nuclear body	IEA	cellular component
GO:0007623	circadian rhythm	IEA	biological process
GO:0006606	protein import into nucleus	IEA	biological process
GO:0006355	regulation of transcription, DNA-templated	IEA	biological process
GO:0005737	cytoplasm	IEA	cellular component
GO:0005667	transcription regulator complex	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0003677	DNA binding	IEA	molecular function
GO:0000981	DNA-binding transcription factor activity, RNA polymerase II-specific	IEA	molecular function
GO:0051879	Hsp90 protein binding	IDA	molecular function
GO:0000981	DNA-binding transcription factor activity, RNA polymerase II-specific	ISS	molecular function
GO:0017162	aryl hydrocarbon receptor binding	IPI	molecular function
GO:0045944	positive regulation of transcription by RNA polymerase II	IDA	biological process
GO:0005737	cytoplasm	IEA	cellular component
GO:0016605	PML body	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0005654	nucleoplasm	IDA	cellular component
GO:0043231	intracellular membrane-bounded organelle	IDA	cellular component
GO:0120163	negative regulation of cold-induced thermogenesis	ISS	biological process

KEGG pathways

Pathway id	Pathway name
hsa04728	Dopaminergic synapse
hsa04710	Circadian rhythm

Diseases

Associated diseases	References
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Cryptorchidism	MIK: 28606200

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq