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ARNT aryl hydrocarbon receptor nuclear translocator [ Homo sapiens (human) ]

Gene ID: 405, updated on 7-Oct-2018

Summary

Official Symbol
ARNTprovided by HGNC
Official Full Name
aryl hydrocarbon receptor nuclear translocatorprovided by HGNC
Primary source
HGNC:HGNC:700
See related
Ensembl:ENSG00000143437 MIM:126110; Vega:OTTHUMG00000035011
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
HIF1B; TANGO; bHLHe2; HIF1BETA; HIF-1beta; HIF1-beta; HIF-1-beta
Summary
This gene encodes a protein containing a basic helix-loop-helix domain and two characteristic PAS domains along with a PAC domain. The encoded protein binds to ligand-bound aryl hydrocarbon receptor and aids in the movement of this complex to the nucleus, where it promotes the expression of genes involved in xenobiotic metabolism. This protein is also a co-factor for transcriptional regulation by hypoxia-inducible factor 1. Chromosomal translocation of this locus with the ETV6 (ets variant 6) gene on chromosome 12 have been described in leukemias. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2013]
Expression
Ubiquitous expression in ovary (RPKM 16.9), placenta (RPKM 14.7) and 25 other tissues See more
Orthologs

Genomic context

See ARNT in Genome Data Viewer
Location:
1q21.3
Exon count:
25
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 1 NC_000001.11 (150809705..150876768, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (150782181..150849244, complement)

Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene short coiled-coil protein pseudogene Neighboring gene ubiquitin conjugating enzyme E2 D3 pseudogene 3 Neighboring gene cathepsin K Neighboring gene RNA, U6 small nuclear 1309, pseudogene Neighboring gene ribosomal protein S27a pseudogene 6 Neighboring gene cortexin domain containing 2 Neighboring gene uncharacterized LOC107985204 Neighboring gene cytochrome c, somatic pseudogene 51

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Jun 15 11:32:44 2016

Bibliography

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Phenotypes

NHGRI GWAS Catalog

Description
Genome-wide association analyses identify 18 new loci associated with serum urate concentrations.
NHGRI GWA Catalog
Genome-wide association study identifies a new melanoma susceptibility locus at 1q21.3.
NHGRI GWA Catalog
Genome-wide association study identifies genetic risk underlying primary rhegmatogenous retinal detachment.
NHGRI GWA Catalog

HIV-1 interactions

Protein interactions

Protein Gene Interaction Pubs
matrix gag HIV-1 MA downregulates ARNT gene expression in HepG2 cells PubMed

Go to the HIV-1, Human Interaction Database

Pathways from BioSystems

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
DNA-binding transcription factor activity TAS
Traceable Author Statement
more info
PubMed 
DNA-binding transcription factor activity, RNA polymerase II-specific ISA
Inferred from Sequence Alignment
more info
 
DNA-binding transcription factor activity, RNA polymerase II-specific ISM
Inferred from Sequence Model
more info
PubMed 
DNA-binding transcription factor activity, RNA polymerase II-specific NAS
Non-traceable Author Statement
more info
PubMed 
aryl hydrocarbon receptor activity IEA
Inferred from Electronic Annotation
more info
 
aryl hydrocarbon receptor binding IPI
Inferred from Physical Interaction
more info
PubMed 
enhancer binding IDA
Inferred from Direct Assay
more info
PubMed 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
protein heterodimerization activity IDA
Inferred from Direct Assay
more info
PubMed 
protein heterodimerization activity IPI
Inferred from Physical Interaction
more info
PubMed 
protein homodimerization activity IDA
Inferred from Direct Assay
more info
PubMed 
contributes_to sequence-specific DNA binding IDA
Inferred from Direct Assay
more info
PubMed 
sequence-specific double-stranded DNA binding IDA
Inferred from Direct Assay
more info
PubMed 
transcription coactivator activity IEA
Inferred from Electronic Annotation
more info
 
contributes_to transcription factor activity, RNA polymerase II distal enhancer sequence-specific binding IDA
Inferred from Direct Assay
more info
PubMed 
transcription factor binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
cell differentiation IEA
Inferred from Electronic Annotation
more info
 
embryonic placenta development IEA
Inferred from Electronic Annotation
more info
 
mRNA transcription by RNA polymerase II IC
Inferred by Curator
more info
PubMed 
positive regulation of endothelial cell proliferation IC
Inferred by Curator
more info
PubMed 
positive regulation of erythrocyte differentiation IC
Inferred by Curator
more info
PubMed 
positive regulation of glycolytic process IC
Inferred by Curator
more info
PubMed 
positive regulation of hormone biosynthetic process IDA
Inferred from Direct Assay
more info
PubMed 
positive regulation of protein sumoylation IEA
Inferred from Electronic Annotation
more info
 
positive regulation of transcription by RNA polymerase II IEA
Inferred from Electronic Annotation
more info
 
positive regulation of transcription, DNA-templated IDA
Inferred from Direct Assay
more info
PubMed 
positive regulation of vascular endothelial growth factor production IDA
Inferred from Direct Assay
more info
PubMed 
positive regulation of vascular endothelial growth factor receptor signaling pathway IC
Inferred by Curator
more info
PubMed 
regulation of transcription from RNA polymerase II promoter in response to hypoxia TAS
Traceable Author Statement
more info
 
regulation of transcription from RNA polymerase II promoter in response to oxidative stress IDA
Inferred from Direct Assay
more info
PubMed 
response to hypoxia IDA
Inferred from Direct Assay
more info
PubMed 
transcription, DNA-templated TAS
Traceable Author Statement
more info
PubMed 
xenobiotic metabolic process TAS
Traceable Author Statement
more info
 
Component Evidence Code Pubs
RNA polymerase II transcription factor complex IDA
Inferred from Direct Assay
more info
PubMed 
cytoplasm IEA
Inferred from Electronic Annotation
more info
 
nuclear body IDA
Inferred from Direct Assay
more info
 
nucleoplasm TAS
Traceable Author Statement
more info
 
nucleus IDA
Inferred from Direct Assay
more info
PubMed 

General protein information

Preferred Names
aryl hydrocarbon receptor nuclear translocator
Names
class E basic helix-loop-helix protein 2
dioxin receptor, nuclear translocator
hypoxia-inducible factor 1, beta subunit

NCBI Reference Sequences (RefSeq)

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_028248.1 RefSeqGene

    Range
    5001..72064
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001197325.1NP_001184254.1  aryl hydrocarbon receptor nuclear translocator isoform 4

    Status: REVIEWED

    Description
    Transcript Variant: This variant (4) lacks an alternate in-frame exon and uses an alternate in-frame splice site, compared to variant 1. The encoded isoform (4) is shorter than isoform 1.
    Source sequence(s)
    AK291705, AK293027, AL355860, BU730937
    UniProtKB/Swiss-Prot
    P27540
    UniProtKB/TrEMBL
    A8K6P0
    Conserved Domains (5) summary
    smart00091
    Location:151215
    PAS; PAS domain
    cd00130
    Location:347443
    PAS; PAS domain; PAS motifs appear in archaea, eubacteria and eukarya. Probably the most surprising identification of a PAS domain was that in EAG-like K+-channels. PAS domains have been found to bind ligands, and to act as sensors for light and oxygen in ...
    pfam00010
    Location:76128
    HLH; Helix-loop-helix DNA-binding domain
    pfam00989
    Location:148254
    PAS; PAS fold
    pfam14598
    Location:347447
    PAS_11; PAS domain
  2. NM_001286035.1NP_001272964.1  aryl hydrocarbon receptor nuclear translocator isoform 5

    See identical proteins and their annotated locations for NP_001272964.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (5) contains an alternate exon in the 5' region, initiates translation at a downstream in-frame start codon, and uses an alternate in-frame splice site, compared to variant 1. The encoded isoform (5) is shorter than isoform 1.
    Source sequence(s)
    AK223459, AK293027, AL355860, AL834279, BU730937
    Consensus CDS
    CCDS65641.1
    UniProtKB/Swiss-Prot
    P27540
    UniProtKB/TrEMBL
    Q53F30
    Related
    ENSP00000423851.1, OTTHUMP00000218217, ENST00000515192.5, OTTHUMT00000360626
    Conserved Domains (6) summary
    smart00091
    Location:157221
    PAS; PAS domain
    cd00130
    Location:348444
    PAS; PAS domain; PAS motifs appear in archaea, eubacteria and eukarya. Probably the most surprising identification of a PAS domain was that in EAG-like K+-channels. PAS domains have been found to bind ligands, and to act as sensors for light and oxygen in ...
    pfam00010
    Location:82134
    HLH; Helix-loop-helix DNA-binding domain
    pfam00989
    Location:154260
    PAS; PAS fold
    pfam11593
    Location:509720
    Med3; Mediator complex subunit 3 fungal
    pfam14598
    Location:348448
    PAS_11; PAS domain
  3. NM_001286036.1NP_001272965.1  aryl hydrocarbon receptor nuclear translocator isoform 6

    See identical proteins and their annotated locations for NP_001272965.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (6) uses an alternate in-frame splice site, compared to variant 1. The encoded isoform (6) is shorter than isoform 1.
    Source sequence(s)
    AB209877, AK223459, AK293027, AL355860, BU730937
    Consensus CDS
    CCDS65642.1
    UniProtKB/Swiss-Prot
    P27540
    UniProtKB/TrEMBL
    Q53F30
    Related
    ENSP00000346372.2, OTTHUMP00000218220, ENST00000354396.6, OTTHUMT00000360630
    Conserved Domains (5) summary
    smart00091
    Location:166230
    PAS; PAS domain
    cd00130
    Location:362458
    PAS; PAS domain; PAS motifs appear in archaea, eubacteria and eukarya. Probably the most surprising identification of a PAS domain was that in EAG-like K+-channels. PAS domains have been found to bind ligands, and to act as sensors for light and oxygen in ...
    pfam00010
    Location:91143
    HLH; Helix-loop-helix DNA-binding domain
    pfam00989
    Location:163269
    PAS; PAS fold
    pfam14598
    Location:362462
    PAS_11; PAS domain
  4. NM_001350224.1NP_001337153.1  aryl hydrocarbon receptor nuclear translocator isoform 7

    Status: REVIEWED

    Description
    Transcript Variant: This variant (7) contains an alternate exon in the 5' region, and initiates translation at a downstream in-frame start codon, compared to variant 1. The encoded isoform (7) has a shorter N-terminus than isoform 1.
    Source sequence(s)
    AK293027, AL355860, BC041121, BU730937
    Conserved Domains (4) summary
    pfam00010
    Location:82134
    HLH; Helix-loop-helix DNA-binding domain
    pfam00989
    Location:154260
    PAS; PAS fold
    pfam11593
    Location:514725
    Med3; Mediator complex subunit 3 fungal
    cl25986
    Location:353453
    PAS_3; PAS fold
  5. NM_001350225.1NP_001337154.1  aryl hydrocarbon receptor nuclear translocator isoform 8

    Status: REVIEWED

    Description
    Transcript Variant: This variant (8) uses an alternate splice site in its 5' coding region, resulting in the use of an alternate start codon, compared to variant 1. The encoded isoform (8) has a slightly shorter, but distinct N-terminus, compared to isoform 1.
    Source sequence(s)
    AK293027, AL355860, BC041121, BU730937
    Conserved Domains (4) summary
    pfam00010
    Location:90142
    HLH; Helix-loop-helix DNA-binding domain
    pfam00989
    Location:162268
    PAS; PAS fold
    pfam11593
    Location:522733
    Med3; Mediator complex subunit 3 fungal
    cl25986
    Location:361461
    PAS_3; PAS fold
  6. NM_001350226.1NP_001337155.1  aryl hydrocarbon receptor nuclear translocator isoform 9

    Status: REVIEWED

    Description
    Transcript Variant: This variant (9) uses an alternate splice site in its 5' coding region, resulting in the use of an alternate start codon, compared to variant 1. The encoded isoform (8) has a slightly shorter, but distinct N-terminus, compared to isoform 1.
    Source sequence(s)
    AK293027, AL355860, BC041121, BU730937
    Conserved Domains (4) summary
    pfam00010
    Location:89141
    HLH; Helix-loop-helix DNA-binding domain
    pfam00989
    Location:161267
    PAS; PAS fold
    pfam11593
    Location:521732
    Med3; Mediator complex subunit 3 fungal
    cl25986
    Location:360460
    PAS_3; PAS fold
  7. NM_001668.3NP_001659.1  aryl hydrocarbon receptor nuclear translocator isoform 1

    See identical proteins and their annotated locations for NP_001659.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) encodes the longest isoform (1).
    Source sequence(s)
    AK293027, AL355860, BC041121, BU730937
    Consensus CDS
    CCDS970.1
    UniProtKB/Swiss-Prot
    P27540
    Related
    ENSP00000351407.5, OTTHUMP00000032943, ENST00000358595.9, OTTHUMT00000084741
    Conserved Domains (6) summary
    smart00091
    Location:166230
    PAS; PAS domain
    cd00130
    Location:362458
    PAS; PAS domain; PAS motifs appear in archaea, eubacteria and eukarya. Probably the most surprising identification of a PAS domain was that in EAG-like K+-channels. PAS domains have been found to bind ligands, and to act as sensors for light and oxygen in ...
    pfam00010
    Location:91143
    HLH; Helix-loop-helix DNA-binding domain
    pfam00989
    Location:163269
    PAS; PAS fold
    pfam11593
    Location:523734
    Med3; Mediator complex subunit 3 fungal
    pfam14598
    Location:362462
    PAS_11; PAS domain
  8. NM_178427.2NP_848514.1  aryl hydrocarbon receptor nuclear translocator isoform 3

    See identical proteins and their annotated locations for NP_848514.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) lacks an alternate in-frame exon, compared to variant 1. The encoded isoform (3) is shorter than isoform 1.
    Source sequence(s)
    AK293027, AK315812, AL355860, BU730937
    Consensus CDS
    CCDS971.1
    UniProtKB/Swiss-Prot
    P27540
    UniProtKB/TrEMBL
    B0AZM1
    Related
    ENSP00000427571.1, OTTHUMP00000218219, ENST00000505755.5, OTTHUMT00000360629
    Conserved Domains (6) summary
    smart00091
    Location:151215
    PAS; PAS domain
    cd00130
    Location:347443
    PAS; PAS domain; PAS motifs appear in archaea, eubacteria and eukarya. Probably the most surprising identification of a PAS domain was that in EAG-like K+-channels. PAS domains have been found to bind ligands, and to act as sensors for light and oxygen in ...
    pfam00010
    Location:76128
    HLH; Helix-loop-helix DNA-binding domain
    pfam00989
    Location:148254
    PAS; PAS fold
    pfam11593
    Location:508719
    Med3; Mediator complex subunit 3 fungal
    pfam14598
    Location:347447
    PAS_11; PAS domain

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109 details...Open this link in a new tab

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000001.11 Reference GRCh38.p12 Primary Assembly

    Range
    150809705..150876768 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011509547.2XP_011507849.1  aryl hydrocarbon receptor nuclear translocator isoform X16

    Conserved Domains (6) summary
    smart00091
    Location:150214
    PAS; PAS domain
    cd00130
    Location:346442
    PAS; PAS domain; PAS motifs appear in archaea, eubacteria and eukarya. Probably the most surprising identification of a PAS domain was that in EAG-like K+-channels. PAS domains have been found to bind ligands, and to act as sensors for light and oxygen in ...
    pfam00010
    Location:75127
    HLH; Helix-loop-helix DNA-binding domain
    pfam00989
    Location:147253
    PAS; PAS fold
    pfam11593
    Location:507717
    Med3; Mediator complex subunit 3 fungal
    pfam14598
    Location:346446
    PAS_11; PAS domain
  2. XM_017001296.1XP_016856785.1  aryl hydrocarbon receptor nuclear translocator isoform X15

  3. XM_017001295.1XP_016856784.1  aryl hydrocarbon receptor nuclear translocator isoform X14

  4. XM_005245153.1XP_005245210.1  aryl hydrocarbon receptor nuclear translocator isoform X9

    Conserved Domains (6) summary
    smart00091
    Location:166230
    PAS; PAS domain
    cd00130
    Location:357453
    PAS; PAS domain; PAS motifs appear in archaea, eubacteria and eukarya. Probably the most surprising identification of a PAS domain was that in EAG-like K+-channels. PAS domains have been found to bind ligands, and to act as sensors for light and oxygen in ...
    pfam00010
    Location:91143
    HLH; Helix-loop-helix DNA-binding domain
    pfam00989
    Location:163269
    PAS; PAS fold
    pfam11593
    Location:518729
    Med3; Mediator complex subunit 3 fungal
    pfam14598
    Location:357457
    PAS_11; PAS domain
  5. XM_017001294.1XP_016856783.1  aryl hydrocarbon receptor nuclear translocator isoform X13

  6. XM_005245157.1XP_005245214.1  aryl hydrocarbon receptor nuclear translocator isoform X12

    Conserved Domains (6) summary
    smart00091
    Location:166230
    PAS; PAS domain
    cd00130
    Location:362458
    PAS; PAS domain; PAS motifs appear in archaea, eubacteria and eukarya. Probably the most surprising identification of a PAS domain was that in EAG-like K+-channels. PAS domains have been found to bind ligands, and to act as sensors for light and oxygen in ...
    pfam00010
    Location:91143
    HLH; Helix-loop-helix DNA-binding domain
    pfam00989
    Location:163269
    PAS; PAS fold
    pfam11593
    Location:486697
    Med3; Mediator complex subunit 3 fungal
    pfam14598
    Location:362462
    PAS_11; PAS domain
  7. XM_017001293.1XP_016856782.1  aryl hydrocarbon receptor nuclear translocator isoform X6

  8. XM_017001291.1XP_016856780.1  aryl hydrocarbon receptor nuclear translocator isoform X4

  9. XM_017001292.1XP_016856781.1  aryl hydrocarbon receptor nuclear translocator isoform X5

  10. XM_017001289.1XP_016856778.1  aryl hydrocarbon receptor nuclear translocator isoform X2

    UniProtKB/Swiss-Prot
    P27540
    Conserved Domains (6) summary
    smart00091
    Location:157221
    PAS; PAS domain
    cd00130
    Location:348444
    PAS; PAS domain; PAS motifs appear in archaea, eubacteria and eukarya. Probably the most surprising identification of a PAS domain was that in EAG-like K+-channels. PAS domains have been found to bind ligands, and to act as sensors for light and oxygen in ...
    pfam00010
    Location:82134
    HLH; Helix-loop-helix DNA-binding domain
    pfam00989
    Location:154260
    PAS; PAS fold
    pfam11593
    Location:509720
    Med3; Mediator complex subunit 3 fungal
    pfam14598
    Location:348448
    PAS_11; PAS domain
  11. XM_011509545.3XP_011507847.1  aryl hydrocarbon receptor nuclear translocator isoform X10

    Conserved Domains (6) summary
    smart00091
    Location:150214
    PAS; PAS domain
    cd00130
    Location:346442
    PAS; PAS domain; PAS motifs appear in archaea, eubacteria and eukarya. Probably the most surprising identification of a PAS domain was that in EAG-like K+-channels. PAS domains have been found to bind ligands, and to act as sensors for light and oxygen in ...
    pfam00010
    Location:75127
    HLH; Helix-loop-helix DNA-binding domain
    pfam00989
    Location:147253
    PAS; PAS fold
    pfam11593
    Location:507718
    Med3; Mediator complex subunit 3 fungal
    pfam14598
    Location:346446
    PAS_11; PAS domain
  12. XM_005245151.2XP_005245208.1  aryl hydrocarbon receptor nuclear translocator isoform X7

    Conserved Domains (5) summary
    smart00091
    Location:166230
    PAS; PAS domain
    cd00130
    Location:362458
    PAS; PAS domain; PAS motifs appear in archaea, eubacteria and eukarya. Probably the most surprising identification of a PAS domain was that in EAG-like K+-channels. PAS domains have been found to bind ligands, and to act as sensors for light and oxygen in ...
    pfam00010
    Location:91143
    HLH; Helix-loop-helix DNA-binding domain
    pfam00989
    Location:163269
    PAS; PAS fold
    pfam14598
    Location:362462
    PAS_11; PAS domain
  13. XM_017001290.2XP_016856779.1  aryl hydrocarbon receptor nuclear translocator isoform X3

  14. XM_011509546.2XP_011507848.1  aryl hydrocarbon receptor nuclear translocator isoform X11

    Conserved Domains (6) summary
    smart00091
    Location:134198
    PAS; PAS domain
    cd00130
    Location:330426
    PAS; PAS domain; PAS motifs appear in archaea, eubacteria and eukarya. Probably the most surprising identification of a PAS domain was that in EAG-like K+-channels. PAS domains have been found to bind ligands, and to act as sensors for light and oxygen in ...
    pfam00010
    Location:59111
    HLH; Helix-loop-helix DNA-binding domain
    pfam00989
    Location:131237
    PAS; PAS fold
    pfam11593
    Location:491702
    Med3; Mediator complex subunit 3 fungal
    pfam14598
    Location:330430
    PAS_11; PAS domain
  15. XM_011509543.3XP_011507845.1  aryl hydrocarbon receptor nuclear translocator isoform X8

    See identical proteins and their annotated locations for XP_011507845.1

    Conserved Domains (4) summary
    pfam00010
    Location:90142
    HLH; Helix-loop-helix DNA-binding domain
    pfam00989
    Location:162268
    PAS; PAS fold
    pfam11593
    Location:522733
    Med3; Mediator complex subunit 3 fungal
    cl25986
    Location:361461
    PAS_3; PAS fold
  16. XM_017001288.2XP_016856777.1  aryl hydrocarbon receptor nuclear translocator isoform X1

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

  1. NM_178426.1: Suppressed sequence

    Description
    NM_178426.1: This RefSeq was permanently suppressed because currently there is insufficient support for the transcript and the protein.
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