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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

ARNTL Gene

protein-coding   GIFtS: 61
GCID: GC11P013299

aryl hydrocarbon receptor nuclear translocator-like

 Explore 23 diseases affiliated with
ARNTL via our new
 Human Malady Compendium 
Biological research products
for ARNTL
    

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section

Aliases
Aryl Hydrocarbon Receptor Nuclear Translocator-Like1 2     BHLH-PAS Protein JAP32 3
BMAL11 2 3 5     PAS Domain-Containing Protein 32 3
MOP31 2 3     TIC2 5
PASD31 2 3     BMAL1c2
BHLHe51     ARNT-Like Protein 1, Brain And Muscle2
JAP31 2     Aryl Hydrocarbon Receptor Nuclear Translocator-Like Protein 12
Basic-Helix-Loop-Helix-PAS Protein MOP32 3     Basic-Helix-Loop-Helix-PAS Orphan MOP32
Brain And Muscle ARNT-Like 12 3     Member Of PAS Superfamily 32
Class E Basic Helix-Loop-Helix Protein 52 3     BHLHE53
Member Of PAS Protein 32 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, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary for ARNTL:
The protein encoded by this gene is a basic helix-loop-helix protein that forms a heterodimer with CLOCK. This complex
binds an E-box upstream of the PER1 gene, activating this gene and possibly other circadian rhythym-associated genes.
Three transcript variants encoding two different isoforms have been found for this gene. (provided by RefSeq, Jul
2008)

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


(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 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000011.9  NC_018922.1  NT_009237.18  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the ARNTL gene promoter:
         CREB   p300   deltaCREB   
         Other transcription factors

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

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays 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, neXtProt, Ensembl, and/or Reactome, Modification sites according to 2PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, 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, and/or Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section

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
Subcellular location: Nucleus (By similarity)
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

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
  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_O00327

  • ARNTL Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

    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
    Human Recombinant Protein Products: 
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    Novus Biologicals ARNTL Protein
    Novus Biologicals ARNTL Lysates
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    Uscn Proteins for ARNTL

    Gene Ontology (GO): 4 cellular component terms (GO ID links to tree view):    About this table

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


    ARNTL for ontologies           About GeneDecksing



    ARNTL Antibody Products: 
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    ThermoFisher Antibody for ARNTL

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    Browse Enzo Life Sciences for kits & assays
    Uscn ELISAs and CLIAs for ARNTL


    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section

    ARNTL for domains           About GeneDecksing

    5/6 InterPro domains/families (see all 6):
     IPR001610 PAC
     IPR013767 PAS_fold
     IPR000014 PAS
     IPR011598 HLH_dom
     IPR001067 Nuc_translocat

    Graphical View of Domain Structure for InterPro Entry O00327

    ProtoNet protein and cluster: O00327

    5/6 Blocks protein families (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


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
    About This Section

    Function Summary:

         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)

    miRNA
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    8/15 QIAGEN miScript miRNA 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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    Gene Ontology (GO): 5/10 molecular function terms (GO ID links to tree view) (see all 10):    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: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 ----
    GO:0004871signal transducer activity IEA--


    ARNTL for ontologies           About GeneDecksing


    1 GenomeRNAi human phenotype for ARNTL:
     Increased G2M DNA content 

    Animal Models:
         Mouse knock-outs for ARNTL: Arntltm1Bra Arntltm1.1Weit
         15/18 MGI mutant phenotypes (inferred from 5 alleles(MGI details for Arntl) (see all 18):
     adipose tissue  behavior/neurological  cardiovascular system  cellular  embryogenesis 
     endocrine/exocrine gland  growth/size  hematopoietic system  homeostasis/metabolism  immune system 
     integument  mortality/aging  muscle  renal/urinary system  reproductive system 

    ARNTL for phenotypes           About GeneDecksing


    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, 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 Mar 2013 via Entrez Gene).
    About This Section

    Unified GeneCards pathways  About this table 
    See pathways by source

    Super-pathwaycontained gene-specific pathways
    1Phosphorylation and Nuclear Translocation of the BMAL1:CLOCK/NPAS2 Heterodimer
    Phosphorylation and Nuclear Translocation of the BMAL1:CLOCK/NPAS2 Heterodimer1.00
    Expression of BMAL1 (ARNTL).0.33
    Circadian Repression of Expression by REV-ERBA0.75
    Metabolic States and Circadian Oscillators0.30
    RORA Activates Circadian Expression0.33
    2Circadian rhythm - mammal
    Circadian rhythm - mammal1.00
    Circadian Clock in Mammals0.40
    Circadian Clock0.41
    3Diurnally regulated genes with circadian orthologs
    Diurnally regulated genes with circadian orthologs1.00
    4Circadian rhythm pathway
    Circadian rhythm pathway1.00

    Pathway sources
    See GeneCards unified pathways
    Show all pathways

    2 Downloadable PowerPoint Slides of QIAGEN 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
        Phosphorylation and Nuclear Translocation of the BMAL1:CLOCK/NPAS2 Heterodimer
    Circadian Clock
    Expression of BMAL1 (ARNTL).
    Circadian Repression of Expression by REV-ERBA
    RORA Activates Circadian Expression


    1         Kegg Pathway  (Kegg details for ARNTL):
        Circadian rhythm - mammal


    ARNTL for pathways           About GeneDecksing

    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for ARNTL

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

    5/57 Interacting proteins for ARNTL (O003273 ENSP000003743574) via UniProtKB, MINT, STRING, and/or I2D (see all 57)
    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): 5/7 biological process terms (GO ID links to tree view) (see all 7):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000060protein import into nucleus, translocation IEA--
    GO:0006351transcription, DNA-dependent ----
    GO:0006355regulation of transcription, DNA-dependent ISS--
    GO:0007623circadian rhythm TAS9616112
    GO:0032922circadian regulation of gene expression ISS--


    ARNTL for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section

    ARNTL for compounds           About GeneDecksing

    Browse Small Molecules at EMD Millipore
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    Browse Tocris compounds for ARNTL
    5 Novoseek 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)

    Search CenterWatch for drugs/clinical trials and news about ARNTL / BMAL1 

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 235 Homo sapiens; Mar 10 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,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    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
    18/24 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

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    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
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    Additional cDNA 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 

    24/107 AceView cDNA sequences (see all 107):

    AW001825 AI139380 BC041129 CA436366 BE045694 AW957136 CA307466 U60415 
    NM_001178 R13170 AI474036 BM695839 BE893718 BM904813 F09386 F04874 
    AK095749 F11728 AI648656 BU628193 BC016674 T10128 BM921924 AA348361 

    GeneLoc Exon Structure

    5/14 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™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    ARNTL expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: TGGATATTTC

    Microarray
    RNAseq (Illumina Body Map)
    (100×FPKM)½
    SAGE (Serial Analysis of Gene Expression)

    About this image

    ARNTL expression in embryonic tissues and stem cells
    Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine    About this table
    2 LifeMap In Vivo Development Anatomical Compartments/Cells 
    Tissue Anatomical Compartment CellCategory (developmental path)
    BrainThalamusBrain
    EyeRetinaEye
    Expression: Positive    Negative     Selective marker
    Experimental details: Curated     Microarrays     In-situ hybridization

    See ARNTL Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for ARNTL

    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

        SABiosciences Expression via Pathway-Focused PCR Arrays including ARNTL: 
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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)
    About This Section

    This gene was present in the common ancestor of animals.

    Orthologs for ARNTL gene from 5/18 species (see all 18)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    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
    --
    92(a)
    1 ↔ 1
    GL343237.1(1455769-1479468)
    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
    54.82(n)1
    54.82(a)1
      3 76C63
    401621  NM_079444.21  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)
    About This Section
    Paralogs for ARNTL gene
    ARNT22  CLOCK2  NPAS22  ARNT2  EPAS12  HIF1A2  NPAS32  SIM22  
    SIM12  HIF3A2  ARNTL22  NPAS12  
    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

    ARNTL for paralogs           About GeneDecksing



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, UniProtKB, 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) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/1842 NCBI SNPs in ARNTL are shown (see all 1842    About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 11 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs122822531,2
    C,--12978088(+) TGTCAA/GTGAGC 1 -- us2k12Minor allele frequency- G:0.25WA 120
    rs747180071,2
    F,--12979090(+) AGCGCG/TCGCGG 1 -- us2k11Minor allele frequency- T:0.06NA 120
    rs728674391,2
    C,F,--12979120(+) CGTGCG/ACTCCT 1 -- us2k11Minor allele frequency- A:0.08NA 120
    rs110227441,2
    C--12979217(+) CACAAC/GTGGCC 1 -- us2k1 tfbs32Minor allele frequency- G:0.00NA 4
    rs778965361,2
    F,--12979719(+) CTTAAA/TGGGCC 1 -- ut511Minor allele frequency- T:0.14WA 118
    rs122727281,2
    C,--12979895(+) CCCACC/AGCCCT 1 -- ut512Minor allele frequency- A:0.24WA 120
    rs750273981,2
    C,--12981425(+) TGAAGC/TTGGTT 1 -- ds50012Minor allele frequency- T:0.10WA 120
    rs1413187911,2
    --13297468(+) AAAGTC/TTAGTT 3 -- us2k10--------
    rs1508254431,2
    --13297492(+) TGCCAC/TCTACT 3 -- us2k10--------
    rs1392299961,2
    --13297540(+) AGTTTA/CCCCAT 4 -- us2k10--------

    HapMap Linkage Disequilibrium report for ARNTL (13298199 - 13408813 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
    Database of Genomic Variants (DGV): 2 variations for ARNTL
         1 CNV: 71284
         1 Indel: 71283

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    (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.)
    About This Section

    ARNTL for disorders           About GeneDecksing

    OMIM gene information: 602550    OMIM disorders: --

    20/23 diseases for ARNTL (see all 23):    About MalaCards
    bipolar i disorder    schizoaffective disorder    epithelial ovarian cancer    mood disorder
    mental disorders    bipolar disorder    pandas    jaundice
    ovarian cancer    hyperlipidemia    parkinson's disease    aldosteronism
    dementia    colorectal cancer    breast cancer    hypertension
    hypoxia    prostatitis    arthritis    schizophrenia

    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)
    About This Section

    PubMed articles for ARNTL gene, integrated from 9 sources (see all 151):
    (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. (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. (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. (1998)
    4. Feedback repression is required for mammalian circadian clock function. (PubMed id 16474406)1, 2, 9 Sato T.K.... Hogenesch J.B. (2006)
    5. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (2004)
    6. Role of the CLOCK protein in the mammalian circadian mechanism. (PubMed id 9616112)1, 2 Gekakis N.... Weitz C.J. (1998)
    7. Epigenetic inactivation of the circadian clock gene B MAL1 in hematologic malignancies. (PubMed id 19861541)1, 9 Taniguchi H....Esteller M. (2009)
    8. Expression of clock genes Per1 and Bmal1 in total leu kocytes in health and Parkinson's disease. (PubMed id 19912323)1, 9 Cai Y....Chan P. (2010)
    9. Interaction of circadian clock proteins PER2 and CRY with BMAL1 and CLOCK. (PubMed id 18430226)1, 9 Langmesser S....Albrecht U. (2008)
    10. ARNTL (BMAL1) and NPAS2 gene variants contribute to f ertility and seasonality. (PubMed id 20368993)1, 9 Kovanen L....Partonen T. (2010)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     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)
    About This Section
    Entrez Gene: 406 HGNC: 701 AceView: ARNTL Ensembl:ENSG00000133794 euGenes: HUgn406
    ECgene: ARNTL Kegg: 406 H-InvDB: ARNTL

    (According to HUGE)
    About This Section
      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    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
    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



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