LOCUS NP_848514 774 aa linear PRI 22-MAY-2023
DEFINITION aryl hydrocarbon receptor nuclear translocator isoform 3 [Homo
sapiens].
ACCESSION NP_848514
VERSION NP_848514.1
DBSOURCE REFSEQ: accession NM_178427.3
KEYWORDS RefSeq.
SOURCE Homo sapiens (human)
ORGANISM Homo sapiens
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
Catarrhini; Hominidae; Homo.
REFERENCE 1 (residues 1 to 774)
AUTHORS Sun X, Jing L, Li F, Zhang M, Diao X, Zhuang J, Rastinejad F and Wu
D.
TITLE Structures of NPAS4-ARNT and NPAS4-ARNT2 heterodimers reveal new
dimerization modalities in the bHLH-PAS transcription factor family
JOURNAL Proc Natl Acad Sci U S A 119 (46), e2208804119 (2022)
PUBMED 36343253
REMARK GeneRIF: Structures of NPAS4-ARNT and NPAS4-ARNT2 heterodimers
reveal new dimerization modalities in the bHLH-PAS transcription
factor family.
REFERENCE 2 (residues 1 to 774)
AUTHORS Cooper AM, Nutter CA, Kuyumcu-Martinez MN and Wright CW.
TITLE Alternative Splicing of the Aryl Hydrocarbon Receptor Nuclear
Translocator (ARNT) Is Regulated by RBFOX2 in Lymphoid Malignancies
JOURNAL Mol Cell Biol 42 (5), e0050321 (2022)
PUBMED 35404107
REMARK GeneRIF: Alternative Splicing of the Aryl Hydrocarbon Receptor
Nuclear Translocator (ARNT) Is Regulated by RBFOX2 in Lymphoid
Malignancies.
REFERENCE 3 (residues 1 to 774)
AUTHORS Zhang M, Hu Y, Yang F, Zhang J, Zhang J, Yu W, Wang M, Lv X, Li J,
Bai T and Chang F.
TITLE Interaction between AhR and HIF-1 signaling pathways mediated by
ARNT/HIF-1beta
JOURNAL BMC Pharmacol Toxicol 23 (1), 26 (2022)
PUBMED 35473600
REMARK GeneRIF: Interaction between AhR and HIF-1 signaling pathways
mediated by ARNT/HIF-1beta.
Publication Status: Online-Only
REFERENCE 4 (residues 1 to 774)
AUTHORS Scheel J, Hussong R, Schrenk D and Schmitz HJ.
TITLE Variability of the human aryl hydrocarbon receptor nuclear
translocator (ARNT) gene
JOURNAL J Hum Genet 47 (5), 217-224 (2002)
PUBMED 12032587
REFERENCE 5 (residues 1 to 774)
AUTHORS Scheel J and Schrenk D.
TITLE Genomic structure of the human Ah receptor nuclear translocator
gene (hARNT)
JOURNAL Hum Genet 107 (4), 397-399 (2000)
PUBMED 11129342
REFERENCE 6 (residues 1 to 774)
AUTHORS Salomon-Nguyen F, Della-Valle V, Mauchauffe M, Busson-Le Coniat M,
Ghysdael J, Berger R and Bernard OA.
TITLE The t(1;12)(q21;p13) translocation of human acute myeloblastic
leukemia results in a TEL-ARNT fusion
JOURNAL Proc Natl Acad Sci U S A 97 (12), 6757-6762 (2000)
PUBMED 10829078
REFERENCE 7 (residues 1 to 774)
AUTHORS Yamaguchi Y and Kuo MT.
TITLE Functional analysis of aryl hydrocarbon receptor nuclear
translocator interactions with aryl hydrocarbon receptor in the
yeast two-hybrid system
JOURNAL Biochem Pharmacol 50 (8), 1295-1302 (1995)
PUBMED 7488247
REFERENCE 8 (residues 1 to 774)
AUTHORS Wang GL, Jiang BH, Rue EA and Semenza GL.
TITLE Hypoxia-inducible factor 1 is a basic-helix-loop-helix-PAS
heterodimer regulated by cellular O2 tension
JOURNAL Proc Natl Acad Sci U S A 92 (12), 5510-5514 (1995)
PUBMED 7539918
REFERENCE 9 (residues 1 to 774)
AUTHORS Reyes H, Reisz-Porszasz S and Hankinson O.
TITLE Identification of the Ah receptor nuclear translocator protein
(Arnt) as a component of the DNA binding form of the Ah receptor
JOURNAL Science 256 (5060), 1193-1195 (1992)
PUBMED 1317062
REFERENCE 10 (residues 1 to 774)
AUTHORS Hoffman EC, Reyes H, Chu FF, Sander F, Conley LH, Brooks BA and
Hankinson O.
TITLE Cloning of a factor required for activity of the Ah (dioxin)
receptor
JOURNAL Science 252 (5008), 954-958 (1991)
PUBMED 1852076
COMMENT REVIEWED REFSEQ: This record has been curated by NCBI staff. The
reference sequence was derived from AK315812.1, AL355860.12 and
BU730937.1.
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].
Transcript Variant: This variant (3) lacks an alternate in-frame
exon, compared to variant 1. The encoded isoform (3) is shorter
than isoform 1.
Sequence Note: This RefSeq record was created from transcript and
genomic sequence data to make the sequence consistent with the
reference genome assembly. The genomic coordinates used for the
transcript record were based on transcript alignments.
Publication Note: This RefSeq record includes a subset of the
publications that are available for this gene. Please see the Gene
record to access additional publications.
##Evidence-Data-START##
Transcript exon combination :: SRR11853565.1720.1,
SRR18074967.3989989.1 [ECO:0000332]
##Evidence-Data-END##
FEATURES Location/Qualifiers
source 1..774
/organism="Homo sapiens"
/db_xref="taxon:9606"
/chromosome="1"
/map="1q21.3"
Protein 1..774
/product="aryl hydrocarbon receptor nuclear translocator
isoform 3"
/note="dioxin receptor, nuclear translocator;
hypoxia-inducible factor 1, beta subunit; class E basic
helix-loop-helix protein 2; hypoxia inducible factor 1
subunit beta"
/calculated_mol_wt=84817
Region 71..135
/region_name="bHLH-PAS_ARNT"
/note="basic helix-loop-helix-Per-ARNT-Sim (bHLH-PAS)
domain found in aryl hydrocarbon receptor nuclear
translocator (ARNT) and similar proteins; cd18947"
/db_xref="CDD:381517"
Site order(75..76,79..80,83,86..87,91,112..113)
/site_type="DNA binding"
/note="DNA binding site [nucleotide binding]"
/db_xref="CDD:381517"
Site order(90,93,96..97,114,117..118,121,123..125,127)
/site_type="other"
/note="dimer interface [polypeptide binding]"
/db_xref="CDD:381517"
Region 148..254
/region_name="PAS"
/note="PAS fold; pfam00989"
/db_xref="CDD:395786"
Region 347..447
/region_name="PAS_11"
/note="PAS domain; pfam14598"
/db_xref="CDD:434060"
CDS 1..774
/gene="ARNT"
/gene_synonym="ARNT1; bHLHe2; HIF-1-beta; HIF-1beta;
HIF1-beta; HIF1B; HIF1BETA; TANGO"
/coded_by="NM_178427.3:33..2357"
/note="isoform 3 is encoded by transcript variant 3"
/db_xref="CCDS:CCDS971.1"
/db_xref="GeneID:405"
/db_xref="HGNC:HGNC:700"
/db_xref="MIM:126110"
ORIGIN
1 maattanpem tsdvpslgpa iasgnsgpgi qgggaivqra ikrrpgldfd ddgegnskfl
61 rcdddqmsnd kerfarenhs eierrrrnkm tayitelsdm vptcsalark pdkltilrma
121 vshmkslrgt gntstdgsyk psfltdqelk hlileaadgf lfivscetgr vvyvsdsvtp
181 vlnqpqsewf gstlydqvhp ddvdklreql stsenaltgr ildlktgtvk kegqqssmrm
241 cmgsrrsfic rmrcgsssvd pvsvnrlsfv rnrcrnglgs vkdgephfvv vhctgyikaw
301 ppagvslpdd dpeagqgskf clvaigrlqv tsspnctdms nvcqptefis rhniegiftf
361 vdhrcvatvg yqpqellgkn ivefchpedq qllrdsfqqv vklkgqvlsv mfrfrsknqe
421 wlwmrtssft fqnpysdeie yiictntnvk nssqeprptl sntiqrpqlg ptanlplemg
481 sgqlaprqqq qqteldmvpg rdglasynhs qvvqpvtttg pehskpleks dglfaqdrdp
541 rfseiyhnin adqskgisss tvpatqqlfs qgntfpptpr paenfrnsgl appvtivqps
601 asagqmlaqi srhsnptqga tptwtpttrs gfsaqqvatq ataktrtsqf gvgsfqtpss
661 fssmslpgap taspgaaayp sltnrgsnfa petgqtagqf qtrtaegvgv wpqwqgqqph
721 hrsssseqhv qqppaqqpgq pevfqemlsm lgdqsnsynn eefpdltmfp pfse
//