1. Gene
  2. ARNT - aryl hydrocarbon receptor nuclear translocator Gene

ARNT - aryl hydrocarbon receptor nuclear translocator Gene

Homo sapiens

Also known as HIF1B; TANGO; bHLHe2; HIF1BETA; HIF-1beta; HIF1-beta; HIF-1-beta

Gene ID: 405 | Gene type: protein coding

About ARNT

Cytogenetic location: 1q21.3 Genomic coordinates (GRCh38): 1:150,809,713-150,876,599 (from NCBI)

This gene has 12 transcripts (splice variants), 212 orthologues, 6 paralogues and is associated with 69 phenotypes. Ubiquitous expression in ovary (RPKM 16.9), placenta (RPKM 14.7) and 25 other tissues.

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]

ARNT Products(8)

mRNA Protein Name
NM_001197325.2 NP_001184254.1 aryl hydrocarbon receptor nuclear translocator isoform 4
NM_001286035.2 NP_001272964.1 aryl hydrocarbon receptor nuclear translocator isoform 5
NM_001286036.2 NP_001272965.1 aryl hydrocarbon receptor nuclear translocator isoform 6
NM_001350224.2 NP_001337153.1 aryl hydrocarbon receptor nuclear translocator isoform 7
NM_001350225.2 NP_001337154.1 aryl hydrocarbon receptor nuclear translocator isoform 8
NM_001350226.2 NP_001337155.1 aryl hydrocarbon receptor nuclear translocator isoform 9
NM_001668.4 NP_001659.1 aryl hydrocarbon receptor nuclear translocator isoform 1
NM_178427.3 NP_848514.1 aryl hydrocarbon receptor nuclear translocator isoform 3
Gene Ontology
  • Molecular Function
  • Biological Process
  • Cellular Component
Molecular Function GO Annotation Evidence Reference Source
enables DNA-binding transcription factor activity IDA
IDA: Inferred from direct assay
29454749 GOA
contributes to DNA-binding transcription factor activity, RNA polymerase II-specific IDA
IDA: Inferred from direct assay
7539918 GOA
enables RNA polymerase II-specific DNA-binding transcription factor binding IPI
IPI: Inferred from physical interaction
7539918 GOA
enables aryl hydrocarbon receptor binding IPI
IPI: Inferred from physical interaction
9079689 GOA
enables cis-regulatory region sequence-specific DNA binding IDA
IDA: Inferred from direct assay
23275542 GOA
contributes to nuclear receptor activity IDA
IDA: Inferred from direct assay
34521881 GOA
enables protein binding IPI
IPI: Inferred from physical interaction
10395741 GOA
enables protein heterodimerization activity IDA
IDA: Inferred from direct assay
16181639 GOA
enables protein heterodimerization activity IPI
IPI: Inferred from physical interaction
9079689 GOA
enables protein homodimerization activity IDA
IDA: Inferred from direct assay
16181639 GOA
enables sequence-specific DNA binding IDA
IDA: Inferred from direct assay
7539918 GOA
enables sequence-specific double-stranded DNA binding IDA
IDA: Inferred from direct assay
28396409 GOA
Biological Process GO Annotation Evidence Reference Source
involved in negative regulation of inflammatory response IDA
IDA: Inferred from direct assay
29454749 GOA
involved in positive regulation of transcription by RNA polymerase II IDA
IDA: Inferred from direct assay
7539918 GOA
involved in positive regulation of vascular endothelial growth factor production IDA
IDA: Inferred from direct assay
8756616 GOA
involved in response to hypoxia IDA
IDA: Inferred from direct assay
8756616 GOA
Cellular Component GO Annotation Evidence Reference Source
part of RNA polymerase II transcription regulator complex IDA
IDA: Inferred from direct assay
7539918 GOA
part of nuclear aryl hydrocarbon receptor complex IDA
IDA: Inferred from direct assay
34521881 GOA
located in nucleus IDA
IDA: Inferred from direct assay
34521881 GOA
EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

ARNT Protein Structure

HLH

HLH: Helix-loop-helix DNA-binding domain (91 - 142)

PAS

PAS: PAS fold (166 - 269)

PAS_11

PAS_11: PAS domain (362 - 465)

  • 0
  • 200
  • 400
  • 600
  • 789 a.a.
Protein Preferred Names Protein Names

aryl hydrocarbon receptor nuclear translocator

class E basic helix-loop-helix protein 2

Related Diseases

Diseases Alias
Endometriosis

Endometriosis, Site Unspecified

Endometrial Ectopia

Esophagus Carcinoma In Situ

Carcinoma In Situ Of Esophagus

Carcinoma In Situ Of Oesophagus

Oesophagus Carcinoma In Situ

Severe Esophageal Dysplasia

Stage 0 Carcinoma Of The Esophagus

Stage 0 Carcinoma Of The Oesophagus

Severe Oesophageal Dysplasia

Primary Polycythemia

Familial Erythrocytosis

Familiar Polycythemia

Benign Familial Polycythemia

Congenital Erythrocytosis

Familial Polycythemia

Hereditary Erythrocytosis

Primary Familial Polycythemia

Erythrocytosis, Familial

Polycythemia Vera

Primary Familial Polycythaemia

Primary Inherited Polycythaemia

Erythrocytosis, Familial, 2

Chuvash Polycythemia

ECYT2

Familial Erythrocytosis 2

Autosomal Recessive Benign Erythrocytosis

Polycythemia, Vhl-Dependent

Chuvash Erythromatosis

Chuvash Type Polycythemia

Chuvash Erythrocytosis

Von Hippel-Lindau-Dependent Polycythemia

Polycythemia Chuvash Type

Vhl-Dependent Polycythemia

Erythrocytosis, Familial, Type 2

Prostate Cancer

Prostate Carcinoma

Prostate Cancer, Familial

Prostate Neoplasm

Prostate Cancer, Somatic

Prostate Cancer, Susceptibility To

Prostatic Cancer

Prostatic Neoplasms

Hereditary Prostate Cancer

Prostatic Neoplasm

Cancer Of Prostate

Carcinoma Of Prostate

Familial Prostate Cancer

Familial Prostate Carcinoma

Malignant Tumor Of Prostate

Malignant Neoplasm Of Prostate

Prostate Cancer, Familial, Susceptibility To

Malignant Tumor Of The Prostate

Ngp - New Growth Of Prostate

Tumor Of The Prostate

Prostate Cancer, Hereditary

Cancer Of The Prostate

Malignant Neoplasm Of The Prostate

Prostatic Carcinoma

PC

Prca

Cancer, Prostate

Malignant Prostatic Tumour

Malignant Tumour Of Prostate

Primary Prostate Cancer

Primary Malignant Neoplasm Of Prostate

Prostate Gland Cancer

Ovarian Cancer

Ovarian Carcinoma

Ovarian Neoplasm

Malignant Tumour Of Ovary

Cancer Of The Ovary

Epithelial Ovarian Cancer

Neoplasm Of Ovary

Ovarian Neoplasms

Ovarian Cancers

Malignant Neoplasm Of Ovary

Primary Malignant Neoplasm Of Ovary

Ovarian Cancer, Somatic

Malignant Ovarian Tumor

Ovary Neoplasm

Primary Ovarian Cancer

Tumor Of The Ovary

Malignant Neoplasm Of The Ovary

Malignant Tumor Of The Ovary

Ovarian Malignant Tumor

OC

Ovarian Carcinomas

Cancer, Ovarian

Cancer Of Ovary

Ovary Cancer

Ca Ovary

Renal Cell Carcinoma, Nonpapillary

Renal Cell Carcinoma

RCC

Nonpapillary Renal Cell Carcinoma

Clear Cell Renal Cell Carcinoma

Hypernephroma

Adenocarcinoma Of Kidney

Renal Carcinoma, Chromophobe, Somatic

Clear Cell Carcinoma Of Kidney

Clear-Cell Metastatic Renal Cell Carcinoma

Clear Cell Renal Carcinoma

Renal Cell Carcinoma, Somatic

Conventional Renal Cell Carcinoma

Conventional Renal Cell Carcinoma

Renal Clear Cell Carcinoma

Ccrcc

Hereditary Clear Cell Renal Cell Carcinoma

Carcinoma, Renal Cell

Renal Cell Carcinoma, Clear Cell, Somatic

Renal Cell Carcinoma, Clear Cell

Clear Cell Kidney Carcinoma

Clear Cell Rcc

Cystic-Multilocular Variant

Clear Cell Renal Cell Adenocarcinoma

Hereditary Clear Cell Renal Cell Adenocarcinoma

Common Renal Cell Carcinoma

Crcc

Renal Cell Carcinoma Non-Papillary

Carcinoma Renal Cell

Renal Cell Cancer

Carcinoma, Renal Cell, Nonpapillary

Exudative Vitreoretinopathy 1

Retinopathy Of Prematurity

Retrolental Fibroplasia

EVR1

Criswick-Schepens Syndrome

Rop

Exudative Vitreoretinopathy, Familial, Autosomal Dominant

Fevr, Autosomal Dominant

Premature Retinopathy

Vitreoretinopathy, Exudative 1

Autosomal Dominant Familial Exudative Vitreoretinopathy

Fevr

Vitreoretinopathy, Exudative, Type 1

Retinopathy Of Prematurity Nos

Rlf- [Retrolental Fibroplasia]

Rop - [Retinopathy Of Prematurity]

Terry Syndrome

Diseases Alias
Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma