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Q15406

- NR6A1_HUMAN

UniProt

Q15406 - NR6A1_HUMAN

Protein

Nuclear receptor subfamily 6 group A member 1

Gene

NR6A1

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 140 (01 Oct 2014)
      Sequence version 2 (01 Dec 2000)
      Previous versions | rss
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    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.By similarity

    Regions

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    DNA bindingi57 – 13276Nuclear receptorPROSITE-ProRule annotationAdd
    BLAST
    Zinc fingeri60 – 8021NR C4-typePROSITE-ProRule annotationAdd
    BLAST
    Zinc fingeri96 – 12025NR C4-typePROSITE-ProRule annotationAdd
    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

    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 Curated

    GO - Cellular componenti

    1. nucleoplasm Source: Reactome
    2. transcription factor complex Source: UniProtKB

    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.By similarity

    Protein-protein interaction databases

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

    Structurei

    3D structure databases

    ProteinModelPortaliQ15406.
    SMRiQ15406. Positions 56-455.
    ModBaseiSearch...
    MobiDBiSearch...

    Family & Domainsi

    Region

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Regioni172 – 25382Sufficient for interaction with UIMC1By similarityAdd
    BLAST

    Sequence similaritiesi

    Contains 1 nuclear receptor DNA-binding domain.PROSITE-ProRule annotation

    Zinc finger

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Zinc fingeri60 – 8021NR C4-typePROSITE-ProRule annotationAdd
    BLAST
    Zinc fingeri96 – 12025NR C4-typePROSITE-ProRule annotationAdd
    BLAST

    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

    Experimental Info

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Sequence conflicti90 – 901N → K in AAB06335. (PubMed:9134503)Curated
    Sequence conflicti129 – 1291A → T in CAA68236. (PubMed:9493564)Curated

    Alternative sequence

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Alternative sequencei9 – 3022Missing in isoform 3. 1 PublicationVSP_003720Add
    BLAST
    Alternative sequencei48 – 525ISVSD → N in isoform 2, isoform 3 and isoform 5. 3 PublicationsVSP_003721
    Alternative sequencei199 – 1991Missing in isoform 4 and isoform 5. 2 PublicationsVSP_025927

    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

    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: October 1, 2014
    This is version 140 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