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ARNTL Gene

protein-coding   GIFtS: 63
GCID: GC11P013299

Aryl Hydrocarbon Receptor Nuclear Translocator-Like

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(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
Aryl Hydrocarbon Receptor Nuclear Translocator-Like1 2     PAS Domain-Containing Protein 32 3
BMAL12 3 5     TIC2 5
Basic-Helix-Loop-Helix-PAS Protein MOP32 3     BMAL1c2
Brain And Muscle ARNT-Like 12 3     JAP32
Class E Basic Helix-Loop-Helix Protein 52 3     ARNT-Like Protein 1, Brain And Muscle2
Member Of PAS Protein 32 3     Aryl Hydrocarbon Receptor Nuclear Translocator-Like Protein 12
MOP32 3     Basic-Helix-Loop-Helix-PAS Orphan MOP32
PASD32 3     Member Of PAS Superfamily 32
bHLHe52 3     BHLHE53
BHLH-PAS Protein JAP32 3     

External Ids:    HGNC: 7011   Entrez Gene: 4062   Ensembl: ENSG000001337947   OMIM: 6025505   UniProtKB: O003273   

Export aliases for ARNTL gene to outside databases

Previous GC identifers: GC11P014570 GC11P014048 GC11P013338 GC11P013263 GC11P013255 GC11P012979


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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Entrez Gene summary for ARNTL 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. Three transcript
variants encoding two different isoforms have been found for this gene. (provided by RefSeq, Jan 2014)

GeneCards Summary for ARNTL Gene:
ARNTL (aryl hydrocarbon receptor nuclear translocator-like) is a protein-coding gene. GO annotations related to this gene include bHLH transcription factor binding and protein heterodimerization activity. An important paralog of this gene is ARNT2.

UniProtKB/Swiss-Prot: BMAL1_HUMAN, O00327
Function: ARNTL-CLOCK heterodimers activate E-box element (5'-CACGTG-3') transcription of a number of proteins of
the circadian clock. This transcription is inhibited in a feedback loop by PER, and also by CRY proteins (By
similarity)

Gene Wiki entry for ARNTL Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence at NCBI GenBank:
NC_000011.9  NT_009237.19  NC_018922.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the ARNTL gene promoter:
         CREB   p300   deltaCREB   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidARNTL promoter sequence
   Search Chromatin IP Primers for ARNTL

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat ARNTL


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 11p15   Ensembl cytogenetic band:  11p15.2   HGNC cytogenetic band: 11p15

ARNTL Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
ARNTL gene location

GeneLoc information about chromosome 11         GeneLoc Exon Structure

GeneLoc location for GC11P013299:  view genomic region     (about GC identifiers)

Start:
13,298,199 bp from pter      End:
13,408,813 bp from pter
Size:
110,615 bases      Orientation:
plus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, Cloud-Clone Corp., eBioscience, and/or antibodies-online,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., eBioscience, and/or antibodies-online, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, Cloud-Clone Corp, antibodies-online, and/or others.)
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UniProtKB/Swiss-Prot: BMAL1_HUMAN, O00327 (See protein sequence)
Recommended Name: Aryl hydrocarbon receptor nuclear translocator-like protein 1  
Size: 626 amino acids; 68762 Da
Subunit: Interacts with CRY2 (By similarity). Component of the circadian clock oscillator which includes the CRY
proteins, CLOCK or NPAS2, ARNTL or ARNTL2, CSNK1D and/or CSNK1E, TIMELESS and the PER proteins. Efficient DNA
binding requires dimerization with another bHLH protein. Heterodimerization with CLOCK is required for
E-box-dependent transactivation, for CLOCK nuclear translocation and degradation, and, for phosphorylation of
both CLOCK and ARNTL. Interaction with PER and CRY proteins requires translocation to the nucleus. Interaction of
the CLOCK-ARNTL heterodimer with PER or CRY inhibits transcription activation. Interacts with HSP90; with AHR in
vitro, but not in vivo. Part of a nuclear complex which also includes GNB2L1/RACK1 and PRKCA; GNB2L1 and PRKCA
are recruited to the complex in a circadian manner. Interacts with CIART
Miscellaneous: CLOCK-ARNTL double mutations within the PAS domains result in syngernistic desensitization to high
levels of CRY on repression of CLOCK-ARNTL transcriptional activity of PER1 and, disrupt circadian rhythmicity
1 PDB 3D structure from and Proteopedia for ARNTL:
4H10 (3D)    
Secondary accessions: A2I2N6 A8K645 B5ME11 B7WPG7 D3DQW6 O00313 O00314 O00315 O00316 O00317
Q4G136 Q8IUT4 Q99631 Q99649
Alternative splicing: 9 isoforms:  O00327-2   O00327-1   O00327-3   O00327-4   O00327-5   O00327-6   O00327-7   O00327-8   
O00327-9   

Explore the universe of human proteins at neXtProt for ARNTL: NX_O00327

Explore proteomics data for ARNTL at MOPED

Post-translational modifications: 

  • Acetylated on Lys-538 upon dimerization with CLOCK. Acetylation facilitates CRY1-mediated repression (By
    similarity)1
  • Phosphorylated upon dimerization with CLOCK (By similarity)1
  • Sumoylated on Lys-259 upon dimerization with CLOCK (By similarity)1
  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus

  • See ARNTL Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (3 alternative transcripts): 
    NP_001025443.1  NP_001025444.1  NP_001169.3  

    ENSEMBL proteins: 
     ENSP00000434044   ENSP00000431566   ENSP00000433540   ENSP00000431488   ENSP00000434263  
     ENSP00000374357   ENSP00000385915   ENSP00000433571   ENSP00000436313   ENSP00000384517  
     ENSP00000385581   ENSP00000436721   ENSP00000434781   ENSP00000385897   ENSP00000436442  
     ENSP00000379718   ENSP00000354278   ENSP00000374358  
    Reactome Protein details: O00327

    ARNTL Human Recombinant Protein Products:

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    Novus Biologicals ARNTL Protein
    Novus Biologicals ARNTL Lysates
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for ARNTL

     
    Search eBioscience for Proteins for ARNTL 

     
    antibodies-online proteins for ARNTL (5 products) 

     
    antibodies-online peptides for ARNTL

    ARNTL Antibody Products:

    EMD Millipore Mono- and Polyclonal Antibodies for the study of ARNTL
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    ThermoFisher Antibody for ARNTL
    antibodies-online antibodies for ARNTL (75 products) 

    ARNTL Assay Products:

    Browse Kits and Assays available from EMD Millipore
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    GenScript Custom Assay Services for ARNTL
    Browse Enzo Life Sciences for kits & assays
    Cloud-Clone Corp. ELISAs for ARNTL
    Cloud-Clone Corp. CLIAs for ARNTL
    Search eBioscience for ELISAs for ARNTL 
    antibodies-online kits for ARNTL (10 products) 


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    HGNC Gene Families:
    bHLH: Basic helix-loop-helix proteins

    5 InterPro protein domains:
     IPR001610 PAC
     IPR013767 PAS_fold
     IPR000014 PAS
     IPR011598 bHLH_dom
     IPR001067 Nuc_translocat

    Graphical View of Domain Structure for InterPro Entry O00327

    ProtoNet protein and cluster: O00327

    Selected Blocks protein domains (see all 6):
    IPB000014 PAS domain
    IPB001067 Nuclear translocator signature
    IPB001092 Basic helix-loop-helix dimerization domain bHLH
    IPB001610 PAC motif
    IPB013655 PAS fold-3


    UniProtKB/Swiss-Prot: BMAL1_HUMAN, O00327
    Similarity: Contains 1 bHLH (basic helix-loop-helix) domain
    Similarity: Contains 1 PAC (PAS-associated C-terminal) domain
    Similarity: Contains 2 PAS (PER-ARNT-SIM) domains


    Find genes that share domains with ARNTL           About GenesLikeMe


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: BMAL1_HUMAN, O00327
    Function: ARNTL-CLOCK heterodimers activate E-box element (5'-CACGTG-3') transcription of a number of proteins of
    the circadian clock. This transcription is inhibited in a feedback loop by PER, and also by CRY proteins (By
    similarity)

         Gene Ontology (GO): Selected molecular function terms (see all 13):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000982RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity ISS--
    GO:0001047core promoter binding ISS--
    GO:0001190RNA polymerase II transcription factor binding transcription factor activity involved in positive regulation of transcription IEA--
    GO:0003677DNA binding IGI9576906
    GO:0003700sequence-specific DNA binding transcription factor activity ----
         
    Find genes that share ontologies with ARNTL           About GenesLikeMe


    Phenotypes:
         1 GenomeRNAi human phenotype for ARNTL:
     Increased G2M DNA content 

         Selected MGI mutant phenotypes (inferred from 5 alleles(MGI details for Arntl) (see all 17):
     adipose tissue  behavior/neurological  cardiovascular system  cellular  endocrine/exocrine gland 
     growth/size/body  hematopoietic system  homeostasis/metabolism  immune system  integument 
     mortality/aging  muscle  renal/urinary system  reproductive system  respiratory system 

    Find genes that share phenotypes with ARNTL           About GenesLikeMe

    Animal Models:
         MGI mouse knock-outs for ARNTL: Arntltm1Bra Arntltm1.1Weit

       genOway: Develop your customized and physiologically relevant rodent model for ARNTL

    Transcription Factor Targeting: 
    Targeting motifs: HOMER Transcription Factor Regulatory Elements motif viewer 
                                          Consensus sequence:  GNCACGTG 

    miRNA
    Products:
        
    miRTarBase miRNAs that target ARNTL:
    hsa-mir-142-3p (MIRT006654), hsa-mir-494-3p (MIRT006653), hsa-mir-335-5p (MIRT018183)

    Block miRNA regulation of human, mouse, rat ARNTL using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate ARNTL (see all 15):
    hsa-miR-142-3p hsa-miR-203 hsa-miR-3163 hsa-miR-600 hsa-miR-548d-3p hsa-miR-548am hsa-miR-448 hsa-miR-200a
    SwitchGear 3'UTR luciferase reporter plasmidARNTL 3' UTR sequence
    Inhib. RNA
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    Predesigned siRNA for gene silencing in human, mouse, rat ARNTL

    Gene Editing
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    DNA2.0 Custom Protein Engineering Service for ARNTL

    Clone
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    OriGene clones in human, mouse for ARNTL (see all 18)
    OriGene ORF clones in mouse, rat for ARNTL
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    GenScript: all cDNA clones in your preferred vector (see all 3): ARNTL (NM_001030272)
    Sino Biological Human cDNA Clone for ARNTL
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for ARNTL
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat ARNTL

    Cell Line
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    Browse ESI BIO Cell Lines and PureStem Progenitors for ARNTL 
    In Situ Assay
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for ARNTL


    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    BMAL1_HUMAN, O00327: Nucleus (By similarity)
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    nucleus4

    Gene Ontology (GO): 5 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005634nucleus IDA--
    GO:0005667transcription factor complex IPI9576906
    GO:0005737cytoplasm ----
    GO:0016604nuclear body IEA--
    GO:0033391chromatoid body ISS--

    Find genes that share ontologies with ARNTL           About GenesLikeMe


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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    SuperPaths for ARNTL About   (see all 10)  
    See pathways by source

    SuperPathContained pathways About
    1Circadian rhythm
    Circadian rhythm0.31
    Circadian Clock in Mammals0.31
    2Fatty acid, triacylglycerol, and ketone body metabolism
    Fatty acid, triacylglycerol, and ketone body metabolism0.65
    PPARA Activates Gene Expression0.63
    Regulation of Lipid Metabolism by Peroxisome proliferator-activated receptor alpha (PPARalpha)0.65
    3Circadian Repression of Expression by REV-ERBA
    Circadian Repression of Expression by REV-ERBA0.88
    RORA Activates Circadian Expression0.88
    4Circadian Clock
    Circadian Clock0.66
    BMAL1-CLOCK/NPAS2 Activates Circadian Expression0.66
    5Metabolism
    Metabolism0.38
    Metabolism of lipids and lipoproteins0.37


    Find genes that share SuperPaths with ARNTL           About GenesLikeMe

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    2 Downloadable PowerPoint Slides of GeneGlobe Pathway Central Maps for ARNTL
        Metabolic States and Circadian Oscillators
    Circadian Clock in Mammals

    2 BioSystems Pathways for ARNTL
        Diurnally regulated genes with circadian orthologs
    Circadian rhythm pathway


    5 Reactome Pathways for ARNTL
        Circadian Clock
    PPARA activates gene expression
    REV-ERBA represses gene expression
    BMAL1:CLOCK,NPAS2 activates circadian gene expression
    RORA activates circadian gene expression


    3 Kegg Pathways  (Kegg details for ARNTL):
        Circadian rhythm
    Dopaminergic synapse
    Herpes simplex infection

        Pathway & Disease-focused RT2 Profiler PCR Arrays including ARNTL: 
              Circadian Rhythms in human mouse rat
              Prostate Cancer in human mouse rat

    Interactions:

        GeneGlobe Interaction Network for ARNTL

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    Selected Interacting proteins for ARNTL (O003273 ENSP000003743574) via UniProtKB, MINT, STRING, and/or I2D (see all 62)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    CLOCKO155163, ENSP000003087414I2D: score=9 STRING: ENSP00000308741
    EPAS1Q998143, ENSP000002637344I2D: score=6 STRING: ENSP00000263734
    AHRP358693, ENSP000002420574I2D: score=4 STRING: ENSP00000242057
    CRY1Q165263, ENSP000000085274I2D: score=4 STRING: ENSP00000008527
    CSNK1EP496743, ENSP000003529294I2D: score=3 STRING: ENSP00000352929
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 24):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000060protein import into nucleus, translocation IEA--
    GO:0006351transcription, DNA-templated ----
    GO:0006355regulation of transcription, DNA-templated ISS--
    GO:0006366transcription from RNA polymerase II promoter ISS--
    GO:0007165signal transduction ----

    Find genes that share ontologies with ARNTL           About GenesLikeMe



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for ARNTL (BMAL1)

    5 Novoseek inferred chemical compound relationships for ARNTL gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    arylalkylamine 67.1 1 17645697 (1)
    melatonin 52.3 8 18517031 (3), 16306190 (2), 16096739 (1), 17645697 (1) (see all 5)
    lipid 0 1 19247803 (1)
    nadph 0 2 11441146 (1)
    alanine 0 1 15315827 (1)



    Find genes that share compounds with ARNTL           About GenesLikeMe



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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    REFSEQ mRNAs for ARNTL gene (3 alternative transcripts): 
    NM_001030272.1  NM_001030273.1  NM_001178.4  

    Unigene Cluster for ARNTL:

    Aryl hydrocarbon receptor nuclear translocator-like
    Hs.65734  [show with all ESTs]
    Unigene Representative Sequence: NM_001030273
    Selected Ensembl transcripts including schematic representations, and UCSC links where relevant (see all 24):
    ENST00000529050 ENST00000534544 ENST00000527998 ENST00000533520 ENST00000529825
    ENST00000389707(uc001mkp.3 uc001mkr.3) ENST00000401424(uc001mko.3 uc001mks.3)
    ENST00000529388 ENST00000530357 ENST00000480685 ENST00000403290 ENST00000403510(uc001mkv.1 uc009ygm.1 uc001mkw.3)
    ENST00000482049 ENST00000531665 ENST00000485918 ENST00000403482(uc001mkx.3)
    ENST00000497429 ENST00000534102
    miRNA
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    Selected qRT-PCR Assays for microRNAs that regulate ARNTL (see all 15):
    hsa-miR-142-3p hsa-miR-203 hsa-miR-3163 hsa-miR-600 hsa-miR-548d-3p hsa-miR-548am hsa-miR-448 hsa-miR-200a
    SwitchGear 3'UTR luciferase reporter plasmidARNTL 3' UTR sequence
    Inhib. RNA
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    GenScript: all cDNA clones in your preferred vector (see all 3): ARNTL (NM_001030272)
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    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat ARNTL
    Primer
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      QuantiTect SYBR Green Assays in human, mouse, rat ARNTL
      QuantiFast Probe-based Assays in human, mouse, rat ARNTL

    Additional mRNA sequence: 

    AB000812.1 AB000814.1 AB000815.1 AB000816.1 AF044288.1 AK095749.1 AK291510.1 AK315174.1 
    BC016674.1 BC031214.1 BC041129.1 U51627.1 U60415.1 

    15 DOTS entries:

    DT.452294  DT.100779799  DT.92072036  DT.100779801  DT.95174579  DT.92476570  DT.100779797  DT.75160044 
    DT.120743446  DT.120743454  DT.120743461  DT.306098  DT.40132043  DT.95261008  DT.97843394 

    Selected AceView cDNA sequences (see all 107):

    AW001825 AI139380 BC041129 AI631374 BC031214 CR611975 F09386 AA348361 
    BM921924 BU628193 BC016674 T10128 F11728 F04874 AI648656 AK095749 
    BE893718 BM904813 BE045694 CA436366 CA307466 AW957136 U60415 NM_001178 

    GeneLoc Exon Structure

    Selected Alternative Splicing Database (ASD) splice patterns (SP) for ARNTL (see all 14)    About this scheme

    ExUns: 1 ^ 2a · 2b · 2c · 2d ^ 3 ^ 4 ^ 5 ^ 6a · 6b · 6c · 6d ^ 7a · 7b ^ 8 ^ 9a · 9b ^ 10 ^ 11 ^ 12a · 12b ^ 13 ^ 14a · 14b ^ 15a · 15b ^
    SP1:                                                                    -     -     -           -                                                               
    SP2:                                                                    -     -     -           -                                                               
    SP3:                                      -                             -                       -                                                               
    SP4:                                      -                             -     -     -           -                                                               
    SP5:                                      -                             -     -                 -                                                               

    ExUns: 16 ^ 17a · 17b · 17c ^ 18a · 18b · 18c ^ 19 ^ 20 ^ 21 ^ 22
    SP1:                          -           -                           
    SP2:                          -           -                           
    SP3:                          -           -                           
    SP4:                          -           -                           
    SP5:                          -           -                           


    ECgene alternative splicing isoforms for ARNTL

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

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    ARNTL expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: TGGATATTTC
    ARNTL Expression
    About this image


    ARNTL expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 2) fully expand
     
     Eye (Sensory Organs)
             Retina
     
     Brain (Nervous System)
             Thalamus
    ARNTL Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    ARNTL Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.65734

    UniProtKB/Swiss-Prot: BMAL1_HUMAN, O00327
    Tissue specificity: Highly expressed in the adult brain, skeletal muscle and heart

        Pathway & Disease-focused RT2 Profiler PCR Arrays including ARNTL: 
              Circadian Rhythms in human mouse rat
              Prostate Cancer in human mouse rat

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    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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    This gene was present in the common ancestor of animals.

    Orthologs for ARNTL gene from Selected species (see all 15)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Arntl1 , 5 aryl hydrocarbon receptor nuclear translocator-like1, 5 91.31(n)1
    98.4(a)1
      7 (59.17 cM)5
    118651  NM_007489.41  NP_031515.11 
     1132074655 
    chicken
    (Gallus gallus)
    Aves ARNTL1 aryl hydrocarbon receptor nuclear translocator-like 82.83(n)
    94.24(a)
      374115  NM_001001463.1  NP_001001463.1 
    lizard
    (Anolis carolinensis)
    Reptilia ARNTL6
    aryl hydrocarbon receptor nuclear translocator-lik...
    89(a)
    1 ↔ 1
    GL343237.1(1453029-1480135)
    African clawed frog
    (Xenopus laevis)
    Amphibia Xl.20982 Xenopus laevis transcribed sequence with weak similarity more 73.86(n)    BG486314.1 
    zebrafish
    (Danio rerio)
    Actinopterygii AF144690.12   -- 75.97(n)   58098  AF144690.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta cyc1 , 3 circadian rhythm specific RNA
    polymerase II transcription more3
    cycle1
    53(a)3
    56.01(n)1
    57.72(a)1
      3 76C63
    401621  NM_079444.31  NP_524168.21 


    ENSEMBL Gene Tree for ARNTL (if available)
    TreeFam Gene Tree for ARNTL (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for ARNTL gene
    ARNT22  CLOCK2  NPAS22  AHR2  ARNT2  EPAS12  NPAS32  HIF1A2  
    SIM22  SIM12  HIF3A2  NPAS12  ARNTL22  AHRR2  
    8 SIMAP similar genes for ARNTL using alignment to 12 protein entries:     BMAL1_HUMAN (see all proteins):
    ARNTL2    NPAS2    ARNT2    CLOCK    ARNT    AHRR
    DKFZp686M216    MLX

    Find genes that share paralogs with ARNTL           About GenesLikeMe



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for ARNTL (see all 2071)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 11 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs676155191,2
    C--13067052(-) AAGAT-/TGTGTGT 3 -- int11Minor allele frequency- TG:0.00NA 2
    rs1413187911,2
    --13297468(+) AAAGTC/TTAGTT 3 -- us2k10--------
    rs1508254431,2
    C--13297492(+) TGCCAC/TCTACT 3 -- us2k10--------
    rs1898605741,2
    --13301506(+) TAGGCC/TTGGGC 3 -- int10--------
    rs1165625031,2
    C,F--13301522(+) TGGCCG/TTTCCA 3 -- int11Minor allele frequency- T:0.13WA 118
    rs754356551,2
    C,F--13301544(+) TTATTA/GAAGAT 3 -- int11Minor allele frequency- G:0.05WA 118
    rs13515251,2
    C,F,A--13301548(-) AGAAAA/TCTTTA 3 -- int110Minor allele frequency- T:0.40NA WA EA 372
    rs1385579641,2
    --13301585(+) TAAGAC/TGGTTG 3 -- int10--------
    rs1807044221,2
    --13301777(+) GATTTA/CTAAAA 3 -- int10--------
    rs1493257011,2
    --13301797(+) CTTACA/GAGTTT 3 -- int10--------

    HapMap Linkage Disequilibrium report for ARNTL (13298199 - 13408813 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 2 variations for ARNTL:    About this table    
    Variant IDTypeSubtypePubMed ID
    esv24912CNV Loss19812545
    esv26686CNV Gain19812545

    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing ARNTL
    DNA2.0 Custom Variant and Variant Library Synthesis for ARNTL

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 602550    OMIM disorders: --


    Find genes that share disorders with ARNTL           About GenesLikeMe

    Genetic Association Database (GAD): ARNTL
    Human Genome Epidemiology (HuGE) Navigator: ARNTL (20 documents)

    Export disorders for ARNTL gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
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    PubMed articles for ARNTL gene, integrated from 10 sources (see all 171):
    (articles sorted by number of sources associating them with ARNTL)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. cDNA cloning and tissue-specific expression of a novel basic helix- loop-helix/PAS protein (BMAL1) and identification of alternatively spliced variants with alternative translation initiation site usage. (PubMed id 9144434)1, 2, 3, 9 Ikeda M. and Nomura M. (Biochem. Biophys. Res. Commun. 1997)
    2. Characterization of a subset of the basic-helix-loop-helix-PAS superfamily that interacts with components of the dioxin signaling pathway. (PubMed id 9079689)1, 2, 3 Hogenesch J.B.... Bradfield C.A. (J. Biol. Chem. 1997)
    3. The basic-helix-loop-helix-PAS orphan MOP3 forms transcriptionally active complexes with circadian and hypoxia factors. (PubMed id 9576906)1, 2, 9 Hogenesch J.B.... Bradfield C.A. (Proc. Natl. Acad. Sci. U.S.A. 1998)
    4. Aryl hydrocarbon receptor nuclear translocator-like (BMAL1) is associated with susceptibility to hypertension and type 2 diabetes. (PubMed id 17728404)1, 4, 9 Woon P.Y....Gauguier D. (Proc. Natl. Acad. Sci. U.S.A. 2007)
    5. Feedback repression is required for mammalian circadian clock function. (PubMed id 16474406)1, 2, 9 Sato T.K.... Hogenesch J.B. (Nat. Genet. 2006)
    6. Circadian clock gene polymorphisms in alcohol use disorders and alcohol consumption. (PubMed id 20554694)1, 4 Kovanen L....Partonen T. (Alcohol Alcohol. 2010)
    7. Differential association of circadian genes with mood disorders: CRY1 and NPAS2 are associated with unipolar major depression and CLOCK and VIP with bipolar disorder. (PubMed id 20072116)1, 4 Soria V....Urretavizcaya M. (Neuropsychopharmacology 2010)
    8. MicroRNA-related genetic variations as predictors for risk of second primary tumor and/or recurrence in patients with early-stage head and neck cancer. (PubMed id 20819778)1, 4 Zhang X....Wu X. (Carcinogenesis 2010)
    9. Thirty new loci for age at menarche identified by a meta-analysis of genome-wide association studies. (PubMed id 21102462)1, 4 Elks C.E....Murray A. (Nat. Genet. 2010)
    10. Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study. (PubMed id 20628086)1, 4 Bailey S.D....Anand S. (Diabetes Care 2010)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 406 HGNC: 701 AceView: ARNTL Ensembl:ENSG00000133794 euGenes: HUgn406
    ECgene: ARNTL Kegg: 406 H-InvDB: ARNTL

    (According to HUGE)
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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    NameDescription
    PharmGKB entry for ARNTL Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section

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    Patent Information for ARNTL gene:
    Search GeneIP for patents involving ARNTL

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



    (Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, eBioscience, antibodies-online, and/or others, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Addgene, Cell lines from GenScript, and ESI BIO, Flow cytometery from eBioscience, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
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