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] See more...

Aliases for NR6A1 Gene

Aliases for NR6A1 Gene

  • Nuclear Receptor Subfamily 6 Group A Member 1 2 3 4 5
  • Retinoid Receptor-Related Testis-Specific Receptor 3 4
  • HGCNF 3 4
  • GCNF 3 4
  • HRTR 3 4
  • RTR 3 4
  • Retinoic Acid Receptor-Related Testis-Associated Receptor 3
  • Nuclear Receptor Subfamily 6, Group A, Member 1 2
  • Germ Cell Nuclear Factor Variant 1 3
  • Germ Cell Nuclear Factor 4
  • CT150 3
  • GCNF1 3
  • NR61 3

External Ids for NR6A1 Gene

Previous HGNC Symbols for NR6A1 Gene

  • GCNF

Previous GeneCards Identifiers for NR6A1 Gene

  • GC09M118397
  • GC09M118928
  • GC09M120736
  • GC09M122658
  • GC09M124361
  • GC09M126319
  • GC09M127279
  • GC09M096897

Summaries for NR6A1 Gene

Entrez Gene Summary for NR6A1 Gene

  • 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]

GeneCards Summary for NR6A1 Gene

NR6A1 (Nuclear Receptor Subfamily 6 Group A Member 1) is a Protein Coding gene. Diseases associated with NR6A1 include Embryonal Carcinoma and Teratocarcinoma. Among its related pathways are Gene Expression and Transcriptional regulation of pluripotent stem cells. Gene Ontology (GO) annotations related to this gene include DNA-binding transcription factor activity and sequence-specific DNA binding.

UniProtKB/Swiss-Prot Summary for NR6A1 Gene

  • Orphan nuclear receptor. Binds to a response element containing the sequence 5'-TCAAGGTCA-3'. May be involved in the regulation of gene expression in germ cell development during gametogenesis (By similarity).

Gene Wiki entry for NR6A1 Gene

Additional gene information for NR6A1 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for NR6A1 Gene

Genomics for NR6A1 Gene

GeneHancer (GH) Regulatory Elements for NR6A1 Gene


GeneHancers around NR6A1 on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for NR6A1

Top Transcription factor binding sites by QIAGEN in the NR6A1 gene promoter:
  • PPAR-gamma1
  • PPAR-gamma2

Genomic Locations for NR6A1 Gene

Genomic Locations for NR6A1 Gene
chr9:124,517,275-124,771,311
(GRCh38/hg38)
Size:
254,037 bases
Orientation:
Minus strand
chr9:127,279,554-127,533,589
(GRCh37/hg19)
Size:
254,036 bases
Orientation:
Minus strand

Genomic View for NR6A1 Gene

Genes around NR6A1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
NR6A1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for NR6A1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for NR6A1 Gene

Proteins for NR6A1 Gene

  • Protein details for NR6A1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q15406-NR6A1_HUMAN
    Recommended name:
    Nuclear receptor subfamily 6 group A member 1
    Protein Accession:
    Q15406
    Secondary Accessions:
    • O00551
    • O00603
    • Q5T6F4
    • Q8NHQ0
    • Q92898
    • Q99802

    Protein attributes for NR6A1 Gene

    Size:
    480 amino acids
    Molecular mass:
    54383 Da
    Quaternary structure:
    • Homodimer. Interacts with UIMC1 (By similarity).

    Alternative splice isoforms for NR6A1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for NR6A1 Gene

Post-translational modifications for NR6A1 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for NR6A1 Gene

Domains & Families for NR6A1 Gene

Gene Families for NR6A1 Gene

HGNC:
IUPHAR :
Human Protein Atlas (HPA):
  • Nuclear receptors
  • Predicted intracellular proteins
  • Transcription factors

Protein Domains for NR6A1 Gene

Blocks:
  • Steroid hormone receptor signature
  • Vitamin D receptor signature
InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for NR6A1 Gene

GenScript: Design optimal peptide antigens:
  • Nuclear receptor subfamily 6, group A, member 1, isoform CRA_b (F1D8S0_HUMAN)
  • Nuclear receptor subfamily 6, group A, member 1, isoform CRA_a (F1DAM1_HUMAN)
  • Retinoid receptor-related testis-specific receptor (NR6A1_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q15406

UniProtKB/Swiss-Prot:

NR6A1_HUMAN :
  • Belongs to the nuclear hormone receptor family. NR6 subfamily.
Family:
  • Belongs to the nuclear hormone receptor family. NR6 subfamily.
genes like me logo Genes that share domains with NR6A1: view

Function for NR6A1 Gene

Molecular function for NR6A1 Gene

UniProtKB/Swiss-Prot Function:
Orphan nuclear receptor. Binds to a response element containing the sequence 5'-TCAAGGTCA-3'. May be involved in the regulation of gene expression in germ cell development during gametogenesis (By similarity).
GENATLAS Biochemistry:
nuclear receptor subfamily 6,group A,member 1,steroid/thyroid receptor superfamily,potentially involved in spermatogenic maturation

Phenotypes From GWAS Catalog for NR6A1 Gene

Gene Ontology (GO) - Molecular Function for NR6A1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000978 RNA polymerase II proximal promoter sequence-specific DNA binding IBA 21873635
GO:0000981 DNA-binding transcription factor activity, RNA polymerase II-specific NAS 19274049
GO:0001228 DNA-binding transcription activator activity, RNA polymerase II-specific IEA --
GO:0003677 DNA binding ISS,IEA --
GO:0003700 DNA-binding transcription factor activity IEA --
genes like me logo Genes that share ontologies with NR6A1: view
genes like me logo Genes that share phenotypes with NR6A1: view

Animal Models for NR6A1 Gene

MGI Knock Outs for NR6A1:
  • Nr6a1 Nr6a1<tm1Coo>
  • Nr6a1 Nr6a1<tm1b(EUCOMM)Wtsi>
  • Nr6a1 Nr6a1<tm2Coo>
  • Nr6a1 Nr6a1<tm1d(EUCOMM)Wtsi>

miRNA for NR6A1 Gene

miRTarBase miRNAs that target NR6A1

Transcription Factor Targets for NR6A1 Gene

Selected GeneGlobe predicted Target genes for NR6A1

Clone Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology and HOMER Transcription for NR6A1 Gene

Localization for NR6A1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for NR6A1 Gene

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for NR6A1 gene
Compartment Confidence
nucleus 5
cytosol 3
plasma membrane 2
extracellular 2
cytoskeleton 2
mitochondrion 1
peroxisome 1
endoplasmic reticulum 1
endosome 1
lysosome 1
golgi apparatus 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Nucleoplasm (4)
  • Centrosome (2)
  • Cytosol (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for NR6A1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000790 nuclear chromatin ISA --
GO:0005634 nucleus IBA,IEA 21873635
GO:0005654 nucleoplasm TAS --
GO:0005667 transcription factor complex ISS --
genes like me logo Genes that share ontologies with NR6A1: view

Pathways & Interactions for NR6A1 Gene

genes like me logo Genes that share pathways with NR6A1: view

Pathways by source for NR6A1 Gene

1 Cell Signaling Technology pathway for NR6A1 Gene

Gene Ontology (GO) - Biological Process for NR6A1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000122 negative regulation of transcription by RNA polymerase II ISS --
GO:0006355 regulation of transcription, DNA-templated IEA --
GO:0006367 transcription initiation from RNA polymerase II promoter TAS --
GO:0007276 gamete generation ISS --
GO:0030522 intracellular receptor signaling pathway IEA --
genes like me logo Genes that share ontologies with NR6A1: view

No data available for SIGNOR curated interactions for NR6A1 Gene

Drugs & Compounds for NR6A1 Gene

(3) Drugs for NR6A1 Gene - From: Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials

(2) Additional Compounds for NR6A1 Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with NR6A1: view

Transcripts for NR6A1 Gene

mRNA/cDNA for NR6A1 Gene

4 REFSEQ mRNAs :
10 NCBI additional mRNA sequence :
5 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for NR6A1 Gene

ExUns: 1 ^ 2 ^ 3 ^ 4a · 4b ^ 5 ^ 6 ^ 7a · 7b ^ 8 ^ 9 ^ 10 ^ 11
SP1: -
SP2: - -
SP3: - -
SP4:

Relevant External Links for NR6A1 Gene

GeneLoc Exon Structure for
NR6A1

Expression for NR6A1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for NR6A1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for NR6A1 Gene

This gene is overexpressed in Testis (x11.1).

Protein differential expression in normal tissues from HIPED for NR6A1 Gene

This gene is overexpressed in Stomach (66.5).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for NR6A1 Gene



Protein tissue co-expression partners for NR6A1 Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for NR6A1

SOURCE GeneReport for Unigene cluster for NR6A1 Gene:

Hs.586460

mRNA Expression by UniProt/SwissProt for NR6A1 Gene:

Q15406-NR6A1_HUMAN
Tissue specificity: Shows highest expression in the germ cells of the adult testis.

Evidence on tissue expression from TISSUES for NR6A1 Gene

  • Blood(3.3)
genes like me logo Genes that share expression patterns with NR6A1: view

No data available for Phenotype-based relationships between genes and organs from Gene ORGANizer for NR6A1 Gene

Orthologs for NR6A1 Gene

This gene was present in the common ancestor of animals.

Orthologs for NR6A1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia NR6A1 31 30
  • 99.79 (n)
OneToOne
dog
(Canis familiaris)
Mammalia NR6A1 31
  • 97 (a)
OneToOne
cow
(Bos Taurus)
Mammalia NR6A1 31 30
  • 93.76 (n)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia NR6A1 31
  • 93 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Nr6a1 17 31 30
  • 92.92 (n)
rat
(Rattus norvegicus)
Mammalia Nr6a1 30
  • 91.53 (n)
oppossum
(Monodelphis domestica)
Mammalia NR6A1 31
  • 70 (a)
OneToOne
chicken
(Gallus gallus)
Aves NR6A1 31 30
  • 80.59 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia NR6A1 31
  • 73 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia nr6a1 30
  • 75.37 (n)
Str.6227 30
African clawed frog
(Xenopus laevis)
Amphibia Xl.377 30
zebrafish
(Danio rerio)
Actinopterygii nr6a1a 31 30
  • 75.2 (n)
OneToMany
nr6a1b 31
  • 62 (a)
OneToMany
nr6a1 30
fruit fly
(Drosophila melanogaster)
Insecta ftz-f1 31
  • 10 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea nhr-25 31
  • 16 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 31
  • 54 (a)
OneToOne
Cin.4084 30
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.4084 30
Species where no ortholog for NR6A1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for NR6A1 Gene

ENSEMBL:
Gene Tree for NR6A1 (if available)
TreeFam:
Gene Tree for NR6A1 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for NR6A1: view image

Paralogs for NR6A1 Gene

(20) SIMAP similar genes for NR6A1 Gene using alignment to 4 proteins:

  • NR6A1_HUMAN
  • C9JDI9_HUMAN
  • F1D8S0_HUMAN
  • F1DAM1_HUMAN
genes like me logo Genes that share paralogs with NR6A1: view

No data available for Paralogs for NR6A1 Gene

Variants for NR6A1 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for NR6A1 Gene

SNP ID Clinical significance and condition Chr 09 pos Variation AA Info Type
740256 Benign: not provided 124,526,885(-) C/G SYNONYMOUS_VARIANT
787346 Benign: not provided 124,536,084(-) G/A SYNONYMOUS_VARIANT
790625 Benign: not provided 124,522,721(-) C/T MISSENSE_VARIANT

Additional dbSNP identifiers (rs#s) for NR6A1 Gene

Structural Variations from Database of Genomic Variants (DGV) for NR6A1 Gene

Variant ID Type Subtype PubMed ID
esv2457492 CNV deletion 19546169
esv2482264 CNV deletion 19546169
esv2669194 CNV deletion 23128226
esv2761558 CNV gain 21179565
esv3621723 CNV loss 21293372
esv3621724 CNV loss 21293372
nsv466558 CNV loss 19166990
nsv466559 CNV loss 19166990
nsv478016 CNV novel sequence insertion 20440878
nsv526209 CNV gain 19592680
nsv615291 CNV loss 21841781
nsv615292 CNV loss 21841781
nsv6712 CNV deletion 18451855
nsv6713 CNV insertion 18451855
nsv831721 CNV gain 17160897

Variation tolerance for NR6A1 Gene

Residual Variation Intolerance Score: 16.4% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.16; 39.20% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for NR6A1 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
NR6A1

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for NR6A1 Gene

Disorders for NR6A1 Gene

MalaCards: The human disease database

(4) MalaCards diseases for NR6A1 Gene - From: DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
embryonal carcinoma
  • primary extragonadal embryonal carcinoma
teratocarcinoma
  • mixed embryonal carcinoma and teratoma
ureter, cancer of
  • ureter cancer
retinitis pigmentosa
  • retinitis pigmentosa 1
- elite association - COSMIC cancer census association via MalaCards
Search NR6A1 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for NR6A1

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with NR6A1: view

No data available for UniProtKB/Swiss-Prot and Genatlas for NR6A1 Gene

Publications for NR6A1 Gene

  1. Cloning of the human orphan receptor germ cell nuclear factor/retinoid receptor-related testis-associated receptor and its differential regulation during embryonal carcinoma cell differentiation. (PMID: 9134503) Lei W … Jetten AM (Journal of molecular endocrinology 1997) 2 3 4 23 54
  2. Characterization of the human germ cell nuclear factor gene. (PMID: 8982251) Süsens U … Borgmeyer U (Biochimica et biophysica acta 1996) 2 3 4 23 54
  3. RAP80, a novel nuclear protein that interacts with the retinoid-related testis-associated receptor. (PMID: 12080054) Yan Z … Jetten AM (The Journal of biological chemistry 2002) 3 4 23 54
  4. Cloning, expression analysis and chromosomal localization of the human nuclear receptor gene GCNF. (PMID: 9537518) Agoulnik IY … Cooney AJ (FEBS letters 1998) 3 4 23 54
  5. cDNA cloning of two closely related forms of human germ cell nuclear factor (GCNF). (PMID: 9177477) Kapelle M … Schleuning WD (Biochimica et biophysica acta 1997) 3 4 23 54

Products for NR6A1 Gene

Sources for NR6A1 Gene