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NR6A1 nuclear receptor subfamily 6 group A member 1 [ Homo sapiens (human) ]

Gene ID: 2649, updated on 14-Apr-2016
Official Symbol
NR6A1provided by HGNC
Official Full Name
nuclear receptor subfamily 6 group A member 1provided by HGNC
Primary source
HGNC:HGNC:7985
See related
Ensembl:ENSG00000148200 HPRD:04147; MIM:602778; Vega:OTTHUMG00000020661
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
RTR; GCNF; NR61; hRTR; CT150; GCNF1; hGCNF
Summary
This gene encodes an orphan nuclear receptor which is a member of the nuclear hormone receptor family. Its expression pattern suggests that it may be involved in neurogenesis and germ cell development. The protein can homodimerize and bind DNA, but in vivo targets have not been identified. Alternate splicing results in multiple transcript variants.[provided by RefSeq, Jun 2013]
Orthologs
Location:
9q33.3
Exon count:
11
Annotation release Status Assembly Chr Location
107 current GRCh38.p2 (GCF_000001405.28) 9 NC_000009.12 (124517275..124771310, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 9 NC_000009.11 (127279554..127533589, complement)

Chromosome 9 - NC_000009.12Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105376270 Neighboring gene adhesion G protein-coupled receptor D2 Neighboring gene nuclear receptor subfamily 5 group A member 1 Neighboring gene RAN binding protein 1 pseudogene Neighboring gene MIR181A2 host gene Neighboring gene microRNA 181a-2 Neighboring gene microRNA 181b-2 Neighboring gene olfactomedin like 2A Neighboring gene WD repeat domain 38 Neighboring gene ribosomal protein L35

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

NHGRI GWAS Catalog

Description
Genome-wide association study of sex hormones, gonadotropins and sex hormone-binding protein in Chinese men.
NHGRI GWA Catalog
  • Developmental Biology, organism-specific biosystem (from REACTOME)
    Developmental Biology, organism-specific biosystemAs a first step towards capturing the array of processes by which a fertilized egg gives rise to the diverse tissues of the body, examples of three kinds of processes have been annotated. These are a...
  • Gene Expression, organism-specific biosystem (from REACTOME)
    Gene Expression, organism-specific biosystemGene Expression covers the pathways by which genomic DNA is transcribed to yield RNA, the regulation of these transcription processes, and the pathways by which newly-made RNA Transcripts are process...
  • Generic Transcription Pathway, organism-specific biosystem (from REACTOME)
    Generic Transcription Pathway, organism-specific biosystemOVERVIEW OF TRANSCRIPTION REGULATION: Detailed studies of gene transcription regulation in a wide variety of eukaryotic systems has revealed the general principles and mechanisms by which cell- or t...
  • Nuclear Receptor transcription pathway, organism-specific biosystem (from REACTOME)
    Nuclear Receptor transcription pathway, organism-specific biosystemA classic example of bifunctional transcription factors is the family of Nuclear Receptor (NR) proteins. These are DNA-binding transcription factors that bind certain hormones, vitamins, and other s...
  • POU5F1 (OCT4), SOX2, NANOG activate genes related to proliferation, organism-specific biosystem (from REACTOME)
    POU5F1 (OCT4), SOX2, NANOG activate genes related to proliferation, organism-specific biosystemPOU5F1 (OCT4), SOX2, and NANOG bind elements in the promoters of target genes. The target genes of each transcription factor overlap extensively: POU5F1, SOX2, and NANOG co-occupy at least 353 genes ...
  • Transcriptional regulation of pluripotent stem cells, organism-specific biosystem (from REACTOME)
    Transcriptional regulation of pluripotent stem cells, organism-specific biosystemPluripotent stem cells are undifferentiated cells posessing an abbreviated cell cycle (reviewed in Stein et al. 2012), a characteristic profile of gene expression (Rao et al. 2004, Kim et al. 2006, P...
Products Interactant Other Gene Complex Source Pubs Description

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
DNA binding ISS
Inferred from Sequence or Structural Similarity
more info
 
RNA polymerase II core promoter proximal region sequence-specific DNA binding IBA
Inferred from Biological aspect of Ancestor
more info
 
RNA polymerase II transcription factor activity, ligand-activated sequence-specific DNA binding TAS
Traceable Author Statement
more info
PubMed 
protein homodimerization activity ISS
Inferred from Sequence or Structural Similarity
more info
 
sequence-specific DNA binding ISS
Inferred from Sequence or Structural Similarity
more info
 
steroid hormone receptor activity IEA
Inferred from Electronic Annotation
more info
 
transcriptional activator activity, RNA polymerase II core promoter proximal region sequence-specific binding IEA
Inferred from Electronic Annotation
more info
 
zinc ion binding IEA
Inferred from Electronic Annotation
more info
 
Process Evidence Code Pubs
cell proliferation TAS
Traceable Author Statement
more info
PubMed 
gamete generation ISS
Inferred from Sequence or Structural Similarity
more info
 
intracellular steroid hormone receptor signaling pathway IBA
Inferred from Biological aspect of Ancestor
more info
 
negative regulation of transcription from RNA polymerase II promoter ISS
Inferred from Sequence or Structural Similarity
more info
 
positive regulation of transcription from RNA polymerase II promoter IEA
Inferred from Electronic Annotation
more info
 
spermatogenesis TAS
Traceable Author Statement
more info
PubMed 
transcription initiation from RNA polymerase II promoter TAS
Traceable Author Statement
more info
 
Component Evidence Code Pubs
nucleoplasm TAS
Traceable Author Statement
more info
 
nucleus IBA
Inferred from Biological aspect of Ancestor
more info
 
transcription factor complex IBA
Inferred from Biological aspect of Ancestor
more info
 
transcription factor complex ISS
Inferred from Sequence or Structural Similarity
more info
 
Preferred Names
nuclear receptor subfamily 6 group A member 1
Names
germ cell nuclear factor variant 1
nuclear receptor subfamily 6, group A, member 1
retinoic acid receptor-related testis-associated receptor
retinoid receptor-related testis-specific receptor

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.

mRNA and Protein(s)

  1. NM_001278546.1NP_001265475.1  nuclear receptor subfamily 6 group A member 1 isoform 4

    See identical proteins and their annotated locations for NP_001265475.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (4) uses an alternate in-frame splice site in the central coding region, compared to variant 1. This results in a shorter protein (isoform 4), compared to isoform 1.
    Source sequence(s)
    AL354928, AL354979, S83309
    Consensus CDS
    CCDS65127.1
    UniProtKB/Swiss-Prot
    Q15406
    UniProtKB/TrEMBL
    F1DAM1
    Related
    ENSP00000362686, OTTHUMP00000215859, ENST00000373584, OTTHUMT00000356284
    Conserved Domains (2) summary
    cd06953
    Location:252463
    NR_LBD_DHR4_like; The ligand binding domain of orphan nuclear receptor Ecdysone-induced receptor DHR4
    cd07169
    Location:48137
    NR_DBD_GCNF_like; DNA-binding domain of Germ cell nuclear factor (GCNF) F1 is composed of two C4-type zinc fingers
  2. NM_001489.4NP_001480.3  nuclear receptor subfamily 6 group A member 1 isoform 2

    See identical proteins and their annotated locations for NP_001480.3

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) uses two alternate in-frame splice sites compared to variant 1. The resulting isoform (2) has the same N- and C-termini but is shorter compared to isoform 1.
    Source sequence(s)
    AA467752, AL354928, AL354979, BC030600
    Consensus CDS
    CCDS55340.1
    UniProtKB/Swiss-Prot
    Q15406
    Related
    ENSP00000413701, OTTHUMP00000215858, ENST00000416460, OTTHUMT00000356283
    Conserved Domains (2) summary
    cd06953
    Location:251462
    NR_LBD_DHR4_like; The ligand binding domain of orphan nuclear receptor Ecdysone-induced receptor DHR4
    cd07169
    Location:48137
    NR_DBD_GCNF_like; DNA-binding domain of Germ cell nuclear factor (GCNF) F1 is composed of two C4-type zinc fingers
  3. NM_033334.3NP_201591.2  nuclear receptor subfamily 6 group A member 1 isoform 1

    See identical proteins and their annotated locations for NP_201591.2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (1).
    Source sequence(s)
    AL354928, AL354979, U80802
    Consensus CDS
    CCDS35137.1
    UniProtKB/Swiss-Prot
    Q15406
    UniProtKB/TrEMBL
    F1D8S0
    Related
    ENSP00000420267, OTTHUMP00000022112, ENST00000487099, OTTHUMT00000054043
    Conserved Domains (2) summary
    cd06953
    Location:256467
    NR_LBD_DHR4_like; The ligand binding domain of orphan nuclear receptor Ecdysone-induced receptor DHR4
    cd07169
    Location:52141
    NR_DBD_GCNF_like; DNA-binding domain of Germ cell nuclear factor (GCNF) F1 is composed of two C4-type zinc fingers

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 107 details...

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

Reference GRCh38.p2 Primary Assembly

Genomic

  1. NC_000009.12 Reference GRCh38.p2 Primary Assembly

    Range
    124517275..124771310 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_005251917.3XP_005251974.1  

    UniProtKB/Swiss-Prot
    Q15406
    Related
    ENSP00000341135, OTTHUMP00000215861, ENST00000344523, OTTHUMT00000356286
    Conserved Domains (2) summary
    cd06953
    Location:255466
    NR_LBD_DHR4_like; The ligand binding domain of orphan nuclear receptor Ecdysone-induced receptor DHR4
    cd07169
    Location:52141
    NR_DBD_GCNF_like; DNA-binding domain of Germ cell nuclear factor (GCNF) F1 is composed of two C4-type zinc fingers
  2. XM_005251918.3XP_005251975.1  

    Conserved Domains (2) summary
    cd06953
    Location:214425
    NR_LBD_DHR4_like; The ligand binding domain of orphan nuclear receptor Ecdysone-induced receptor DHR4
    cd07169
    Location:1099
    NR_DBD_GCNF_like; DNA-binding domain of Germ cell nuclear factor (GCNF) F1 is composed of two C4-type zinc fingers

Alternate CHM1_1.1

Genomic

  1. NC_018920.2 Alternate CHM1_1.1

    Range
    127428491..127682467 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

  1. NM_033335.2: Suppressed sequence

    Description
    NM_033335.2: This RefSeq was permanently suppressed because currently there is insufficient support for the transcript and the protein.