ARNT aryl hydrocarbon receptor nuclear translocator [Homo sapiens] - Gene

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Summary

Official Symbol: ARNTprovided by HGNC
Official Full Name: aryl hydrocarbon receptor nuclear translocatorprovided by HGNC
Primary source: HGNC:700
See related: Ensembl:ENSG00000143437; HPRD:00524; 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: The aryl hydrocarbon (Ah) receptor is involved in the induction of several enzymes that participate in xenobiotic metabolism. The ligand-free, cytosolic form of the Ah receptor is complexed to heat shock protein 90. Binding of ligand, which includes dioxin and polycyclic aromatic hydrocarbons, results in translocation of the ligand-binding subunit only to the nucleus. Induction of enzymes involved in xenobiotic metabolism occurs through binding of the ligand-bound Ah receptor to xenobiotic responsive elements in the promoters of genes for these enzymes. This gene encodes a protein that forms a complex with the ligand-bound Ah receptor, and is required for receptor function. The encoded protein has also been identified as the beta subunit of a heterodimeric transcription factor, hypoxia-inducible factor 1. A t(1;12)(q21;p13) translocation, which results in a TEL-ARNT fusion protein, is associated with acute myeloblastic leukemia. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2010]

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Genomic context

Location :: 1q21

Sequence :: Chromosome: 1; NC_000001.10 (150782181..150849244, complement)

See ARNT in Epigenomics, MapViewer

Chromosome 1 - NC_000001.10 Genomic Context describing neighboring genes

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Genomic regions, transcripts, and products

Genomic Sequence

Go to nucleotideGraphics FASTA GenBank

Go to reference sequence details

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Bibliography

GeneRIFs: Gene References Into Functions What's a GeneRIF?

the specific functions of AHR and ARNT in estrogen-dependent signaling
Title: Distinct roles for aryl hydrocarbon receptor nuclear translocator and ah receptor in estrogen-mediated signaling in human cancer cell lines.
ARNT may regulate many processes relevant to the biology of age related macular degeneration.
Title: Exploring the potential role of the oxidant-activated transcription factor aryl hydrocarbon receptor in the pathogenesis of AMD.
In this study we demonstrated that AhR positively regulates OPN expression in lung cancer
Title: Up-regulation of osteopontin expression by aryl hydrocarbon receptor via both ligand-dependent and ligand-independent pathways in lung cancer.
Silencing of miR-124 induces neuroblastoma SK-N-SH cell differentiation, cell cycle arrest and apoptosis through promoting AHR
Title: Silencing of miR-124 induces neuroblastoma SK-N-SH cell differentiation, cell cycle arrest and apoptosis through promoting AHR.
The homozygote variant genotype of AHR Lys554Lys is associated with a significantly lower AHR, ARNT and CYP1B1 mRNA expression.
Title: RNA expressions of AHR, ARNT and CYP1B1 are influenced by AHR Arg554Lys polymorphism.
mutations on ARNT PAS-B modulate coactivator selectivity and target gene induction by HIF in vivo, demonstrating a bifunctional role for transcriptional regulation by PAS domains within bHLH-PAS transcription factors
Title: Coactivators necessary for transcriptional output of the hypoxia inducible factor, HIF, are directly recruited by ARNT PAS-B.
No association between AhR 1661G/A and ARNT 567G/C genetic polymorphisms and endometriosis was found in the southern Han Chinese women in this study.
Title: [No association of AhR gene 1661G/A and ARNT gene 567G/C polymorphisms with endometriosis in southern Han Chinese women].
NF-kB controls the levels of HIF-1a and HIF-1b genes by direct regulation.
Title: Evolutionary conserved regulation of HIF-1β by NF-κB.
Cloning and functional analysis of the HIF-1beta promoter identifies a prominent region for interferon (IFN)-gamma-dependent repression.
Title: IFN-γ attenuates hypoxia-inducible factor (HIF) activity in intestinal epithelial cells through transcriptional repression of HIF-1β.
These results reveal a novel mechanism by which ARNT acts as a modulator to bridge the c-Jun/Sp1 interaction and plays a role in EGF-mediated gene expression under normoxic conditions.
Title: Involvement of aryl hydrocarbon receptor nuclear translocator in EGF-induced c-Jun/Sp1-mediated gene expression.

Submit: New GeneRIF Correction See all (53)

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Phenotypes

Review eQTL and phenotype association data in this region using PheGenI

Products	Interactant	Other Gene	Source	Pubs	Description
NP_001659.1	NP_001612.1	AHR	BIND	PubMed	Arnt interacts with AhR.
NP_001659.1	NP_001659.1	ARNT	BIND	PubMed	Arnt interacts with another copy of itself, albeit weakly, to form a homodimer.
NP_001659.1	NP_001421.2	EPAS1	BIND	PubMed	Arnt interacts with HLF. This interaction was modeled on a demonstrated interaction between human Arnt and mouse HLF.
NP_001659.1	NP_001521.1	HIF1A	BIND	PubMed	HIF-1alpha interacts with HIF-1beta
NP_001659.1	NP_851397.1	HIF1A	BIND	PubMed	HIF-1alpha isoform 2 interacts with HIF-1beta isoform 1
NP_001659.1		HIF1A	BIND	PubMed	Arnt interacts with HIF1-alpha.
NP_848514.1	NP_001521.1	HIF1A	BIND	PubMed	HIF-1alpha isoform 1 interacts with HIF-1beta isoform 3
NP_848514.1	NP_851397.1	HIF1A	BIND	PubMed	HIF-1alpha isoform 2 interacts with HIF-1beta isoform 3
P27540	P35869	AHR	HPRD	PubMed
P27540	Aryl hydrocarbon receptor repressor	AHRR	HPRD	PubMed
P27540	O00170	AIP	HPRD	PubMed
P27540	P27540	ARNT	HPRD	PubMed
P27540	Q9HBZ2	ARNT2	HPRD	PubMed
P27540	P68400	CSNK2A1	HPRD	PubMed
P27540	Q09472	EP300	HPRD	PubMed
P27540	Q99814	EPAS1	HPRD	PubMed
P27540	P03372	ESR1	HPRD	PubMed
P27540	P13984	GTF2F2	HPRD	PubMed
P27540	Q9Y5J3	HEY1	HPRD	PubMed
P27540	Q9UBP5	HEY2	HPRD	PubMed
P27540	Q16665	HIF1A	HPRD	PubMed
P27540	Q15788	NCOA1	HPRD	PubMed
P27540	Q15596	NCOA2	HPRD	PubMed
P27540	Q9Y618	NCOR2	HPRD	PubMed
P27540	Q8IUM7	NPAS4	HPRD	PubMed
P27540	P29590	PML	HPRD	PubMed
P27540	Q15185	PTGES3	HPRD	PubMed
P27540	Q9GZR1	SENP6	HPRD	PubMed
P27540	P81133	SIM1	HPRD	PubMed
P27540	Q14190	SIM2	HPRD	PubMed
P27540	O15198	SMAD9	HPRD	PubMed
P27540	Q15643	TRIP11	HPRD	PubMed
P27540	P63279	UBE2I	HPRD	PubMed
BioGRID:106898	BioGRID:106699	AHR	BioGRID	PubMed	Affinity Capture-Western; Reconstituted Complex; Two-hybrid
BioGRID:106898	BioGRID:121558	AHRR	BioGRID	PubMed	Affinity Capture-Western; Two-hybrid
BioGRID:106898	BioGRID:114511	AIP	BioGRID	PubMed	Reconstituted Complex; Two-hybrid
BioGRID:106898	BioGRID:107140	BRCA1	BioGRID	PubMed	Affinity Capture-Western; Reconstituted Complex
BioGRID:106898	BioGRID:114031	CUL2	BioGRID	PubMed	Affinity Capture-Western
BioGRID:106898	BioGRID:108347	EP300	BioGRID	PubMed	Affinity Capture-Western
	NP_001421.2	EPAS1	BIND	PubMed	HLF interacts with Arnt. This interaction was modeled on a demonstrated interaction between mouse HLF and human Arnt.
BioGRID:106898	BioGRID:108348	EPAS1	BioGRID	PubMed	Reconstituted Complex; Two-hybrid
BioGRID:106898	BioGRID:109217	GTF2F1	BioGRID	PubMed	Reconstituted Complex
BioGRID:106898	BioGRID:109218	GTF2F2	BioGRID	PubMed	Reconstituted Complex
BioGRID:106898	BioGRID:109338	HIF1A	BioGRID	PubMed	Affinity Capture-MS; Affinity Capture-Western; Co-localization; Reconstituted Complex; Two-hybrid
BioGRID:106898	BioGRID:109552	HSP90AA1	BioGRID	PubMed	Affinity Capture-Western
BioGRID:106898	BioGRID:115761	NCOA2	BioGRID	PubMed	Affinity Capture-Western; Two-hybrid
	NP_002508.2	NPAS1	BIND	PubMed	NPAS1 interacts with Arnt
BioGRID:106898	BioGRID:129335	NPAS4	BioGRID	PubMed	Two-hybrid
BioGRID:106898	BioGRID:111384	PML	BioGRID	PubMed	Reconstituted Complex
BioGRID:106898	BioGRID:115952	PTGES3	BioGRID	PubMed	Reconstituted Complex
BioGRID:106898	BioGRID:111860	RB1	BioGRID	PubMed	Affinity Capture-Western
BioGRID:106898	BioGRID:112383	SIM1	BioGRID	PubMed	Affinity Capture-Western; Reconstituted Complex; Two-hybrid
BioGRID:106898	BioGRID:112384	SIM2	BioGRID	PubMed	Affinity Capture-Western; Reconstituted Complex; Two-hybrid
BioGRID:106898	BioGRID:112550	SP1	BioGRID	PubMed	Reconstituted Complex
BioGRID:106898	BioGRID:112592	SRC	BioGRID	PubMed	Affinity Capture-Western; Reconstituted Complex; Two-hybrid
BioGRID:106898	BioGRID:112764	TAZ	BioGRID	PubMed	Affinity Capture-Western
BioGRID:106898	BioGRID:112785	TCEB2	BioGRID	PubMed	Affinity Capture-Western
BioGRID:106898	BioGRID:113164	UBC	BioGRID	PubMed	Affinity Capture-Western
BioGRID:106898	BioGRID:113348	XPO1	BioGRID	PubMed	Affinity Capture-Western

Function	Evidence Code	Pubs
aryl hydrocarbon receptor activity	IEA Inferred from Electronic Annotation more info
aryl hydrocarbon receptor binding	IPI Inferred from Physical Interaction more info	PubMed
protein binding	IPI Inferred from Physical Interaction more info	PubMed
protein heterodimerization activity	IPI Inferred from Physical Interaction more info	PubMed
contributes_to sequence-specific DNA binding	IDA Inferred from Direct Assay more info	PubMed
sequence-specific DNA binding transcription factor activity	IEA Inferred from Electronic Annotation more info
contributes_to sequence-specific distal enhancer binding RNA polymerase II transcription factor activity	IDA Inferred from Direct Assay more info	PubMed
signal transducer activity	IEA Inferred from Electronic Annotation more info
transcription coactivator activity	IEA Inferred from Electronic Annotation more info
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 from RNA polymerase II promoter	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 glycolysis	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 from RNA polymerase II promoter	IEA Inferred from Electronic Annotation more info
positive regulation of transcription, DNA-dependent	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
positive regulation vascular endothelial growth factor production	IDA Inferred from Direct Assay more info	PubMed
regulation of transcription from RNA polymerase II promoter in response to oxidative stress	IDA Inferred from Direct Assay more info	PubMed
regulation of transcription, DNA-dependent	TAS Traceable Author Statement more info	PubMed
response to hypoxia	IDA Inferred from Direct Assay more info	PubMed
transcription, DNA-dependent	TAS Traceable Author Statement more info	PubMed

Component	Evidence Code	Pubs
cytoplasm	IEA Inferred from Electronic Annotation more info
nucleus	IDA Inferred from Direct Assay more info	PubMed
transcription factor complex	IEA Inferred from Electronic Annotation more info

General protein information

Preferred Names: aryl hydrocarbon receptor nuclear translocator

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

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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

NG_028248.1 RefSeqGene

Range

5001..72064

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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

Status: REVIEWED

Description

Transcript Variant: This variant (4) lacks an alternate in-frame exon in the 5' coding region and uses an alternate in-frame splice site in the 3' coding region, compared to variant 1. This results in a protein (isoform 4) that is shorter, compared to isoform 1.

Source sequence(s)

AK291705, AK293027, AL355860, BU730937

UniProtKB/TrEMBL

A8K6P0

UniProtKB/Swiss-Prot

P27540

Related

ENSP00000378190, ENST00000394700

Conserved Domains (4) summary

cd00083
Location:76 – 128
Blast Score: 148

HLH; Helix-loop-helix domain, found in specific DNA- binding proteins that act as transcription factors; 60-100 amino acids long. A DNA-binding basic region is followed by two alpha-helices separated by a variable loop region; HLH forms homo- and heterodimers, ...

cd00130
Location:347 – 443
Blast Score: 166

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 ...

pfam00989
Location:148 – 254
Blast Score: 135

PAS; PAS fold

pfam08447
Location:358 – 446
Blast Score: 188

PAS_3; PAS fold
NM_001668.3 → NP_001659.1 aryl hydrocarbon receptor nuclear translocator isoform 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, OTTHUMP00000032943, ENST00000358595, OTTHUMT00000084741

Conserved Domains (4) summary

cd00083
Location:87 – 143
Blast Score: 148

HLH; Helix-loop-helix domain, found in specific DNA- binding proteins that act as transcription factors; 60-100 amino acids long. A DNA-binding basic region is followed by two alpha-helices separated by a variable loop region; HLH forms homo- and heterodimers, ...

cd00130
Location:362 – 458
Blast Score: 165

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 ...

pfam00989
Location:163 – 269
Blast Score: 134

PAS; PAS fold

pfam08447
Location:373 – 461
Blast Score: 187

PAS_3; PAS fold
NM_178427.2 → NP_848514.1 aryl hydrocarbon receptor nuclear translocator isoform 3

Status: REVIEWED

Description

Transcript Variant: This variant (3) lacks an alternate in-frame exon in the 5' coding region, compared to variant 1. This results in a protein (isoform 3) that is shorter, compared to isoform 1.

Source sequence(s)

AK293027, AK315812, AL355860, BU730937

Consensus CDS

CCDS971.1

UniProtKB/TrEMBL

B0AZM1

UniProtKB/Swiss-Prot

P27540

Related

ENSP00000427571, OTTHUMP00000218219, ENST00000505755, OTTHUMT00000360629

Conserved Domains (4) summary

cd00083
Location:76 – 128
Blast Score: 149

HLH; Helix-loop-helix domain, found in specific DNA- binding proteins that act as transcription factors; 60-100 amino acids long. A DNA-binding basic region is followed by two alpha-helices separated by a variable loop region; HLH forms homo- and heterodimers, ...

cd00130
Location:347 – 443
Blast Score: 165

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 ...

pfam00989
Location:148 – 254
Blast Score: 135

PAS; PAS fold

pfam08447
Location:358 – 446
Blast Score: 187

PAS_3; PAS fold

RefSeqs of Annotated Genomes: Build 37.3

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

Reference GRCh37.p5 Primary Assembly

Genomic

NC_000001.10 Reference GRCh37.p5 Primary Assembly

Range

150782181..150849244, complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

Alternate HuRef

Genomic

AC_000133.1 Alternate HuRef

Range

122159809..122226754, complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

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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Related Sequences

Nucleotide		Protein
Heading	Accession and Version	Protein
genomic	A92931.1	CAB69528.1
genomic	AL137290.1	None
genomic	AL355860.12	CAI12797.1
genomic	AY430083.1	AAQ96598.1
genomic	CH471121.2	EAW53510.1
		EAW53511.1
		EAW53512.1
		EAW53513.1
		EAW53514.1
genomic	Y18500.1	CAB65056.1
genomic	Y18859.1	CAC21446.1
mRNA	AB209877.1	BAD93114.1
mRNA	AF001307.1	AAC03365.1
mRNA	AK223459.1	BAD97179.1
mRNA	AK290177.1	BAF82866.1
mRNA	AK291705.1	BAF84394.1
mRNA	AK293027.1	BAF85716.1
mRNA	AK304772.1	BAG65527.1
mRNA	AK313780.1	BAG36518.1
mRNA	AK315812.1	BAF98703.1
mRNA	AL834279.1	CAD38953.1
mRNA	BC028362.1	None
mRNA	BC041121.1	None
mRNA	BC060838.1	AAH60838.1
mRNA	BU730937.1	None
mRNA	M69238.1	AAA51777.1
other-genetic	HQ448538.1	ADQ33017.1

Protein Accession	Links
Protein Accession	GenPept Link	UniProtKB Link
O43392	GenPept	UniProtKB/TrEMBL:O43392
P27540.1	GenPept	UniProtKB/Swiss-Prot:P27540
Q53F30	GenPept	UniProtKB/TrEMBL:Q53F30
Q59ED4	GenPept	UniProtKB/TrEMBL:Q59ED4
Q9UH46	GenPept	UniProtKB/TrEMBL:Q9UH46