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Q15406

- NR6A1_HUMAN

UniProt

Q15406 - NR6A1_HUMAN

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Protein

Nuclear receptor subfamily 6 group A member 1

Gene
NR6A1, GCNF
Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5 - Experimental evidence at protein leveli

Functioni

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.

Regions

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
DNA bindingi57 – 13276Nuclear receptorAdd
BLAST
Zinc fingeri60 – 8021NR C4-typeAdd
BLAST
Zinc fingeri96 – 12025NR C4-typeAdd
BLAST

GO - Molecular functioni

  1. DNA binding Source: UniProtKB
  2. ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity Source: ProtInc
  3. protein homodimerization activity Source: UniProtKB
  4. sequence-specific DNA binding Source: UniProtKB
  5. steroid hormone receptor activity Source: InterPro
  6. zinc ion binding Source: InterPro

GO - Biological processi

  1. cell proliferation Source: ProtInc
  2. gamete generation Source: UniProtKB
  3. gene expression Source: Reactome
  4. intracellular receptor signaling pathway Source: GOC
  5. negative regulation of transcription from RNA polymerase II promoter Source: UniProtKB
  6. spermatogenesis Source: ProtInc
  7. transcription initiation from RNA polymerase II promoter Source: Reactome
Complete GO annotation...

Keywords - Molecular functioni

Receptor

Keywords - Biological processi

Transcription, Transcription regulation

Keywords - Ligandi

DNA-binding, Metal-binding, Zinc

Enzyme and pathway databases

ReactomeiREACT_15525. Nuclear Receptor transcription pathway.
REACT_200759. POU5F1 (OCT4), SOX2, NANOG activate genes related to proliferation.
SignaLinkiQ15406.

Names & Taxonomyi

Protein namesi
Recommended name:
Nuclear receptor subfamily 6 group A member 1
Alternative name(s):
Germ cell nuclear factor
Short name:
GCNF
Short name:
hGCNF
Retinoid receptor-related testis-specific receptor
Short name:
RTR
Short name:
hRTR
Gene namesi
Name:NR6A1
Synonyms:GCNF
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
ProteomesiUP000005640: Chromosome 9

Organism-specific databases

HGNCiHGNC:7985. NR6A1.

Subcellular locationi

Nucleus Inferred

GO - Cellular componenti

  1. nucleoplasm Source: Reactome
  2. transcription factor complex Source: UniProtKB
Complete GO annotation...

Keywords - Cellular componenti

Nucleus

Pathology & Biotechi

Organism-specific databases

PharmGKBiPA31766.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 480480Nuclear receptor subfamily 6 group A member 1PRO_0000053741Add
BLAST

Proteomic databases

MaxQBiQ15406.
PaxDbiQ15406.
PRIDEiQ15406.

PTM databases

PhosphoSiteiQ15406.

Expressioni

Tissue specificityi

Shows highest expression in the germ cells of the adult testis.5 Publications

Gene expression databases

ArrayExpressiQ15406.
BgeeiQ15406.
CleanExiHS_NR6A1.
GenevestigatoriQ15406.

Interactioni

Subunit structurei

Homodimer. Interacts with UIMC1 By similarity.1 Publication

Protein-protein interaction databases

BioGridi108919. 2 interactions.
IntActiQ15406. 1 interaction.
MINTiMINT-1404458.
STRINGi9606.ENSP00000420267.

Structurei

3D structure databases

ProteinModelPortaliQ15406.
SMRiQ15406. Positions 56-455.

Family & Domainsi

Region

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Regioni172 – 25382Sufficient for interaction with UIMC1 By similarityAdd
BLAST

Sequence similaritiesi

Keywords - Domaini

Zinc-finger

Phylogenomic databases

eggNOGiNOG253308.
HOVERGENiHBG052664.
InParanoidiQ15406.
KOiK08561.
OMAiHQLVSAE.
OrthoDBiEOG78WKRG.
PhylomeDBiQ15406.
TreeFamiTF350737.

Family and domain databases

Gene3Di1.10.565.10. 3 hits.
3.30.50.10. 1 hit.
InterProiIPR008946. Nucl_hormone_rcpt_ligand-bd.
IPR000536. Nucl_hrmn_rcpt_lig-bd_core.
IPR001723. Str_hrmn_rcpt.
IPR001628. Znf_hrmn_rcpt.
IPR013088. Znf_NHR/GATA.
[Graphical view]
PfamiPF00104. Hormone_recep. 1 hit.
PF00105. zf-C4. 1 hit.
[Graphical view]
PRINTSiPR00398. STRDHORMONER.
PR00047. STROIDFINGER.
SMARTiSM00430. HOLI. 1 hit.
SM00399. ZnF_C4. 1 hit.
[Graphical view]
SUPFAMiSSF48508. SSF48508. 2 hits.
PROSITEiPS00031. NUCLEAR_REC_DBD_1. 1 hit.
PS51030. NUCLEAR_REC_DBD_2. 1 hit.
[Graphical view]

Sequences (5)i

Sequence statusi: Complete.

This entry describes 5 isoformsi produced by alternative splicing. Align

Isoform 1 (identifier: Q15406-1) [UniParc]FASTAAdd to Basket

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide

MERDEPPPSG GGGGGGSAGF LEPPAALPPP PRNGFCQDEL AELDPGTISV    50
SDDRAEQRTC LICGDRATGL HYGIISCEGC KGFFKRSICN KRVYRCSRDK 100
NCVMSRKQRN RCQYCRLLKC LQMGMNRKAI REDGMPGGRN KSIGPVQISE 150
EEIERIMSGQ EFEEEANHWS NHGDSDHSSP GNRASESNQP SPGSTLSSSR 200
SVELNGFMAF REQYMGMSVP PHYQYIPHLF SYSGHSPLLP QQARSLDPQS 250
YSLIHQLLSA EDLEPLGTPM LIEDGYAVTQ AELFALLCRL ADELLFRQIA 300
WIKKLPFFCE LSIKDYTCLL SSTWQELILL SSLTVYSKQI FGELADVTAK 350
YSPSDEELHR FSDEGMEVIE RLIYLYHKFH QLKVSNEEYA CMKAINFLNQ 400
DIRGLTSASQ LEQLNKRYWY ICQDFTEYKY THQPNRFPDL MMCLPEIRYI 450
AGKMVNVPLE QLPLLFKVVL HSCKTSVGKE 480
Length:480
Mass (Da):54,383
Last modified:December 1, 2000 - v2
Checksum:i0D8578E192581A8E
GO
Isoform 2 (identifier: Q15406-2) [UniParc]FASTAAdd to Basket

The sequence of this isoform differs from the canonical sequence as follows:
     48-52: ISVSD → N

Show »
Length:476
Mass (Da):53,996
Checksum:i6C7881E654CC9046
GO
Isoform 3 (identifier: Q15406-3) [UniParc]FASTAAdd to Basket

The sequence of this isoform differs from the canonical sequence as follows:
     9-30: Missing.
     48-52: ISVSD → N

Show »
Length:454
Mass (Da):52,163
Checksum:i8CB0ECC99A84E65C
GO
Isoform 4 (identifier: Q15406-4) [UniParc]FASTAAdd to Basket

The sequence of this isoform differs from the canonical sequence as follows:
     199-199: Missing.

Note: No experimental confirmation available.

Show »
Length:479
Mass (Da):54,296
Checksum:i8A8D192D89FC60AC
GO
Isoform 5 (identifier: Q15406-5) [UniParc]FASTAAdd to Basket

The sequence of this isoform differs from the canonical sequence as follows:
     48-52: ISVSD → N
     199-199: Missing.

Note: No experimental confirmation available.

Show »
Length:475
Mass (Da):53,908
Checksum:iF7741EEB1D76A8E4
GO

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei9 – 3022Missing in isoform 3. VSP_003720Add
BLAST
Alternative sequencei48 – 525ISVSD → N in isoform 2, isoform 3 and isoform 5. VSP_003721
Alternative sequencei199 – 1991Missing in isoform 4 and isoform 5. VSP_025927

Sequence conflict

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti90 – 901N → K in AAB06335. 1 Publication
Sequence conflicti129 – 1291A → T in CAA68236. 1 Publication

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
S83309 mRNA. Translation: AAB50876.1.
U80802 mRNA. Translation: AAB96828.1.
U64876 mRNA. Translation: AAB06335.1.
AF004291 mRNA. Translation: AAC52054.1.
X99975 mRNA. Translation: CAA68236.1.
AL158075, AL354928, AL354979 Genomic DNA. Translation: CAI13577.1.
AL354928, AL158075, AL354979 Genomic DNA. Translation: CAI39633.1.
AL354979, AL158075, AL354928 Genomic DNA. Translation: CAI10960.1.
BC030600 mRNA. Translation: AAH30600.1.
CCDSiCCDS35137.1. [Q15406-1]
CCDS55340.1. [Q15406-5]
CCDS65127.1. [Q15406-2]
RefSeqiNP_001265475.1. NM_001278546.1. [Q15406-2]
NP_001480.3. NM_001489.4. [Q15406-5]
NP_201591.2. NM_033334.3. [Q15406-1]
XP_005251974.1. XM_005251917.2. [Q15406-4]
UniGeneiHs.20131.
Hs.586460.

Genome annotation databases

EnsembliENST00000344523; ENSP00000341135; ENSG00000148200. [Q15406-4]
ENST00000373584; ENSP00000362686; ENSG00000148200. [Q15406-2]
ENST00000416460; ENSP00000413701; ENSG00000148200. [Q15406-5]
ENST00000487099; ENSP00000420267; ENSG00000148200. [Q15406-1]
GeneIDi2649.
KEGGihsa:2649.
UCSCiuc004boq.1. human. [Q15406-5]
uc004bor.1. human. [Q15406-1]

Polymorphism databases

DMDMi12643728.

Keywords - Coding sequence diversityi

Alternative splicing

Cross-referencesi

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
S83309 mRNA. Translation: AAB50876.1 .
U80802 mRNA. Translation: AAB96828.1 .
U64876 mRNA. Translation: AAB06335.1 .
AF004291 mRNA. Translation: AAC52054.1 .
X99975 mRNA. Translation: CAA68236.1 .
AL158075 , AL354928 , AL354979 Genomic DNA. Translation: CAI13577.1 .
AL354928 , AL158075 , AL354979 Genomic DNA. Translation: CAI39633.1 .
AL354979 , AL158075 , AL354928 Genomic DNA. Translation: CAI10960.1 .
BC030600 mRNA. Translation: AAH30600.1 .
CCDSi CCDS35137.1. [Q15406-1 ]
CCDS55340.1. [Q15406-5 ]
CCDS65127.1. [Q15406-2 ]
RefSeqi NP_001265475.1. NM_001278546.1. [Q15406-2 ]
NP_001480.3. NM_001489.4. [Q15406-5 ]
NP_201591.2. NM_033334.3. [Q15406-1 ]
XP_005251974.1. XM_005251917.2. [Q15406-4 ]
UniGenei Hs.20131.
Hs.586460.

3D structure databases

ProteinModelPortali Q15406.
SMRi Q15406. Positions 56-455.
ModBasei Search...
MobiDBi Search...

Protein-protein interaction databases

BioGridi 108919. 2 interactions.
IntActi Q15406. 1 interaction.
MINTi MINT-1404458.
STRINGi 9606.ENSP00000420267.

Chemistry

ChEMBLi CHEMBL1961793.

PTM databases

PhosphoSitei Q15406.

Polymorphism databases

DMDMi 12643728.

Proteomic databases

MaxQBi Q15406.
PaxDbi Q15406.
PRIDEi Q15406.

Protocols and materials databases

DNASUi 2649.
Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000344523 ; ENSP00000341135 ; ENSG00000148200 . [Q15406-4 ]
ENST00000373584 ; ENSP00000362686 ; ENSG00000148200 . [Q15406-2 ]
ENST00000416460 ; ENSP00000413701 ; ENSG00000148200 . [Q15406-5 ]
ENST00000487099 ; ENSP00000420267 ; ENSG00000148200 . [Q15406-1 ]
GeneIDi 2649.
KEGGi hsa:2649.
UCSCi uc004boq.1. human. [Q15406-5 ]
uc004bor.1. human. [Q15406-1 ]

Organism-specific databases

CTDi 2649.
GeneCardsi GC09M127279.
HGNCi HGNC:7985. NR6A1.
MIMi 602778. gene.
neXtProti NX_Q15406.
PharmGKBi PA31766.
GenAtlasi Search...

Phylogenomic databases

eggNOGi NOG253308.
HOVERGENi HBG052664.
InParanoidi Q15406.
KOi K08561.
OMAi HQLVSAE.
OrthoDBi EOG78WKRG.
PhylomeDBi Q15406.
TreeFami TF350737.

Enzyme and pathway databases

Reactomei REACT_15525. Nuclear Receptor transcription pathway.
REACT_200759. POU5F1 (OCT4), SOX2, NANOG activate genes related to proliferation.
SignaLinki Q15406.

Miscellaneous databases

ChiTaRSi NR6A1. human.
GeneWikii Germ_cell_nuclear_factor.
GenomeRNAii 2649.
NextBioi 10454.
PROi Q15406.
SOURCEi Search...

Gene expression databases

ArrayExpressi Q15406.
Bgeei Q15406.
CleanExi HS_NR6A1.
Genevestigatori Q15406.

Family and domain databases

Gene3Di 1.10.565.10. 3 hits.
3.30.50.10. 1 hit.
InterProi IPR008946. Nucl_hormone_rcpt_ligand-bd.
IPR000536. Nucl_hrmn_rcpt_lig-bd_core.
IPR001723. Str_hrmn_rcpt.
IPR001628. Znf_hrmn_rcpt.
IPR013088. Znf_NHR/GATA.
[Graphical view ]
Pfami PF00104. Hormone_recep. 1 hit.
PF00105. zf-C4. 1 hit.
[Graphical view ]
PRINTSi PR00398. STRDHORMONER.
PR00047. STROIDFINGER.
SMARTi SM00430. HOLI. 1 hit.
SM00399. ZnF_C4. 1 hit.
[Graphical view ]
SUPFAMi SSF48508. SSF48508. 2 hits.
PROSITEi PS00031. NUCLEAR_REC_DBD_1. 1 hit.
PS51030. NUCLEAR_REC_DBD_2. 1 hit.
[Graphical view ]
ProtoNeti Search...

Publicationsi

« Hide 'large scale' publications
  1. "Characterization of the human germ cell nuclear factor gene."
    Suesens U., Borgmeyer U.
    Biochim. Biophys. Acta 1309:179-182(1996) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 2), TISSUE SPECIFICITY.
    Tissue: Embryonic carcinoma.
  2. "cDNA cloning of two closely related forms of human germ cell nuclear factor (GCNF)."
    Kapelle M., Kraetzschmar J., Husemann M., Schleuning W.-D.
    Biochim. Biophys. Acta 1352:13-17(1997) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORMS 1 AND 4), ALTERNATIVE SPLICING, TISSUE SPECIFICITY.
    Tissue: Testis.
  3. "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."
    Lei W., Hirose T., Zhang L.-X., Adachi H., Spinella M.J., Dmitrovsky E., Jetten A.M.
    J. Mol. Endocrinol. 18:167-176(1997) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), TISSUE SPECIFICITY.
    Tissue: Testis.
  4. "Cloning, expression analysis and chromosomal localization of the human nuclear receptor gene GCNF."
    Agoulnik I.Y., Cho Y., Niederberger C., Kieback D.G., Cooney A.J.
    FEBS Lett. 424:73-78(1998) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 3), TISSUE SPECIFICITY.
    Tissue: Testis.
  5. Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), TISSUE SPECIFICITY.
  6. "DNA sequence and analysis of human chromosome 9."
    Humphray S.J., Oliver K., Hunt A.R., Plumb R.W., Loveland J.E., Howe K.L., Andrews T.D., Searle S., Hunt S.E., Scott C.E., Jones M.C., Ainscough R., Almeida J.P., Ambrose K.D., Ashwell R.I.S., Babbage A.K., Babbage S., Bagguley C.L.
    , Bailey J., Banerjee R., Barker D.J., Barlow K.F., Bates K., Beasley H., Beasley O., Bird C.P., Bray-Allen S., Brown A.J., Brown J.Y., Burford D., Burrill W., Burton J., Carder C., Carter N.P., Chapman J.C., Chen Y., Clarke G., Clark S.Y., Clee C.M., Clegg S., Collier R.E., Corby N., Crosier M., Cummings A.T., Davies J., Dhami P., Dunn M., Dutta I., Dyer L.W., Earthrowl M.E., Faulkner L., Fleming C.J., Frankish A., Frankland J.A., French L., Fricker D.G., Garner P., Garnett J., Ghori J., Gilbert J.G.R., Glison C., Grafham D.V., Gribble S., Griffiths C., Griffiths-Jones S., Grocock R., Guy J., Hall R.E., Hammond S., Harley J.L., Harrison E.S.I., Hart E.A., Heath P.D., Henderson C.D., Hopkins B.L., Howard P.J., Howden P.J., Huckle E., Johnson C., Johnson D., Joy A.A., Kay M., Keenan S., Kershaw J.K., Kimberley A.M., King A., Knights A., Laird G.K., Langford C., Lawlor S., Leongamornlert D.A., Leversha M., Lloyd C., Lloyd D.M., Lovell J., Martin S., Mashreghi-Mohammadi M., Matthews L., McLaren S., McLay K.E., McMurray A., Milne S., Nickerson T., Nisbett J., Nordsiek G., Pearce A.V., Peck A.I., Porter K.M., Pandian R., Pelan S., Phillimore B., Povey S., Ramsey Y., Rand V., Scharfe M., Sehra H.K., Shownkeen R., Sims S.K., Skuce C.D., Smith M., Steward C.A., Swarbreck D., Sycamore N., Tester J., Thorpe A., Tracey A., Tromans A., Thomas D.W., Wall M., Wallis J.M., West A.P., Whitehead S.L., Willey D.L., Williams S.A., Wilming L., Wray P.W., Young L., Ashurst J.L., Coulson A., Blocker H., Durbin R.M., Sulston J.E., Hubbard T., Jackson M.J., Bentley D.R., Beck S., Rogers J., Dunham I.
    Nature 429:369-374(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  7. "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
    The MGC Project Team
    Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 5).
    Tissue: Testis.
  8. "RAP80: a novel nuclear protein that interacts with the retinoid-related testis-associated receptor."
    Yan Z., Kim Y.-S., Jetten A.M.
    J. Biol. Chem. 277:32379-32388(2002) [PubMed] [Europe PMC] [Abstract]
    Cited for: INTERACTION WITH UIMC1.

Entry informationi

Entry nameiNR6A1_HUMAN
AccessioniPrimary (citable) accession number: Q15406
Secondary accession number(s): O00551
, O00603, Q5T6F4, Q8NHQ0, Q92898, Q99802
Entry historyi
Integrated into UniProtKB/Swiss-Prot: December 1, 2000
Last sequence update: December 1, 2000
Last modified: September 3, 2014
This is version 139 of the entry and version 2 of the sequence. [Complete history]
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. Human chromosome 9
    Human chromosome 9: entries, gene names and cross-references to MIM
  2. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  3. SIMILARITY comments
    Index of protein domains and families

External Data

Dasty 3

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