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Q15406 (NR6A1_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified July 9, 2014. Version 138. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (3) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Alt products·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended 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 names
Name:NR6A1
Synonyms:GCNF
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length480 AA.
Sequence statusComplete.
Protein existenceEvidence at protein level

General annotation (Comments)

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.

Subunit structure

Homodimer. Interacts with UIMC1 By similarity. Ref.8

Subcellular location

Nucleus Probable.

Tissue specificity

Shows highest expression in the germ cells of the adult testis. Ref.1 Ref.2 Ref.3 Ref.4 Ref.5

Sequence similarities

Belongs to the nuclear hormone receptor family. NR6 subfamily.

Contains 1 nuclear receptor DNA-binding domain.

Ontologies

Keywords
   Biological processTranscription
Transcription regulation
   Cellular componentNucleus
   Coding sequence diversityAlternative splicing
   DomainZinc-finger
   LigandDNA-binding
Metal-binding
Zinc
   Molecular functionReceptor
   Technical termComplete proteome
Reference proteome
Gene Ontology (GO)
   Biological_processcell proliferation

Traceable author statement Ref.3. Source: ProtInc

gamete generation

Inferred from sequence or structural similarity. Source: UniProtKB

gene expression

Traceable author statement. Source: Reactome

intracellular receptor signaling pathway

Traceable author statement Ref.3. Source: GOC

negative regulation of transcription from RNA polymerase II promoter

Inferred from sequence or structural similarity. Source: UniProtKB

spermatogenesis

Traceable author statement Ref.3. Source: ProtInc

transcription initiation from RNA polymerase II promoter

Traceable author statement. Source: Reactome

   Cellular_componentnucleoplasm

Traceable author statement. Source: Reactome

transcription factor complex

Inferred from sequence or structural similarity. Source: UniProtKB

   Molecular_functionDNA binding

Inferred from sequence or structural similarity. Source: UniProtKB

ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity

Traceable author statement Ref.3. Source: ProtInc

protein homodimerization activity

Inferred from sequence or structural similarity. Source: UniProtKB

sequence-specific DNA binding

Inferred from sequence or structural similarity. Source: UniProtKB

steroid hormone receptor activity

Inferred from electronic annotation. Source: InterPro

zinc ion binding

Inferred from electronic annotation. Source: InterPro

Complete GO annotation...

Alternative products

This entry describes 5 isoforms produced by alternative splicing. [Align] [Select]
Isoform 1 (identifier: Q15406-1)

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.
Isoform 2 (identifier: Q15406-2)

The sequence of this isoform differs from the canonical sequence as follows:
     48-52: ISVSD → N
Isoform 3 (identifier: Q15406-3)

The sequence of this isoform differs from the canonical sequence as follows:
     9-30: Missing.
     48-52: ISVSD → N
Isoform 4 (identifier: Q15406-4)

The sequence of this isoform differs from the canonical sequence as follows:
     199-199: Missing.
Note: No experimental confirmation available.
Isoform 5 (identifier: Q15406-5)

The sequence of this isoform differs from the canonical sequence as follows:
     48-52: ISVSD → N
     199-199: Missing.
Note: No experimental confirmation available.

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 480480Nuclear receptor subfamily 6 group A member 1
PRO_0000053741

Regions

DNA binding57 – 13276Nuclear receptor
Zinc finger60 – 8021NR C4-type
Zinc finger96 – 12025NR C4-type
Region172 – 25382Sufficient for interaction with UIMC1 By similarity

Natural variations

Alternative sequence9 – 3022Missing in isoform 3.
VSP_003720
Alternative sequence48 – 525ISVSD → N in isoform 2, isoform 3 and isoform 5.
VSP_003721
Alternative sequence1991Missing in isoform 4 and isoform 5.
VSP_025927

Experimental info

Sequence conflict901N → K in AAB06335. Ref.3
Sequence conflict1291A → T in CAA68236. Ref.5

Sequences

Sequence LengthMass (Da)Tools
Isoform 1 [UniParc].

Last modified December 1, 2000. Version 2.
Checksum: 0D8578E192581A8E

FASTA48054,383
        10         20         30         40         50         60 
MERDEPPPSG GGGGGGSAGF LEPPAALPPP PRNGFCQDEL AELDPGTISV SDDRAEQRTC 

        70         80         90        100        110        120 
LICGDRATGL HYGIISCEGC KGFFKRSICN KRVYRCSRDK NCVMSRKQRN RCQYCRLLKC 

       130        140        150        160        170        180 
LQMGMNRKAI REDGMPGGRN KSIGPVQISE EEIERIMSGQ EFEEEANHWS NHGDSDHSSP 

       190        200        210        220        230        240 
GNRASESNQP SPGSTLSSSR SVELNGFMAF REQYMGMSVP PHYQYIPHLF SYSGHSPLLP 

       250        260        270        280        290        300 
QQARSLDPQS YSLIHQLLSA EDLEPLGTPM LIEDGYAVTQ AELFALLCRL ADELLFRQIA 

       310        320        330        340        350        360 
WIKKLPFFCE LSIKDYTCLL SSTWQELILL SSLTVYSKQI FGELADVTAK YSPSDEELHR 

       370        380        390        400        410        420 
FSDEGMEVIE RLIYLYHKFH QLKVSNEEYA CMKAINFLNQ DIRGLTSASQ LEQLNKRYWY 

       430        440        450        460        470        480 
ICQDFTEYKY THQPNRFPDL MMCLPEIRYI AGKMVNVPLE QLPLLFKVVL HSCKTSVGKE 

« Hide

Isoform 2 [UniParc].

Checksum: 6C7881E654CC9046
Show »

FASTA47653,996
Isoform 3 [UniParc].

Checksum: 8CB0ECC99A84E65C
Show »

FASTA45452,163
Isoform 4 [UniParc].

Checksum: 8A8D192D89FC60AC
Show »

FASTA47954,296
Isoform 5 [UniParc].

Checksum: F7741EEB1D76A8E4
Show »

FASTA47553,908

References

« Hide 'large scale' references
[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]"Cloning of the human NCNF gene."
Schneider-Hirsch S., Bauer U.M., Heiermann R., Rentrop M., Maelicke A.
J. Recept. Signal Transduct. 18:1-13(1998) [PubMed] [Europe PMC] [Abstract]
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. expand/collapse author list , 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.
+Additional computationally mapped references.

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
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.
CCDSCCDS35137.1. [Q15406-1]
CCDS55340.1. [Q15406-5]
CCDS65127.1. [Q15406-2]
RefSeqNP_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]
UniGeneHs.20131.
Hs.586460.

3D structure databases

ProteinModelPortalQ15406.
SMRQ15406. Positions 56-455.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

BioGrid108919. 2 interactions.
IntActQ15406. 1 interaction.
MINTMINT-1404458.
STRING9606.ENSP00000420267.

Chemistry

ChEMBLCHEMBL1961793.

PTM databases

PhosphoSiteQ15406.

Polymorphism databases

DMDM12643728.

Proteomic databases

MaxQBQ15406.
PaxDbQ15406.
PRIDEQ15406.

Protocols and materials databases

DNASU2649.
StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000344523; ENSP00000341135; ENSG00000148200. [Q15406-4]
ENST00000373584; ENSP00000362686; ENSG00000148200. [Q15406-2]
ENST00000416460; ENSP00000413701; ENSG00000148200. [Q15406-5]
ENST00000487099; ENSP00000420267; ENSG00000148200. [Q15406-1]
GeneID2649.
KEGGhsa:2649.
UCSCuc004boq.1. human. [Q15406-5]
uc004bor.1. human. [Q15406-1]

Organism-specific databases

CTD2649.
GeneCardsGC09M127279.
HGNCHGNC:7985. NR6A1.
MIM602778. gene.
neXtProtNX_Q15406.
PharmGKBPA31766.
GenAtlasSearch...

Phylogenomic databases

eggNOGNOG253308.
HOVERGENHBG052664.
InParanoidQ15406.
KOK08561.
OMAHQLVSAE.
OrthoDBEOG78WKRG.
PhylomeDBQ15406.
TreeFamTF350737.

Enzyme and pathway databases

ReactomeREACT_71. Gene Expression.
SignaLinkQ15406.

Gene expression databases

ArrayExpressQ15406.
BgeeQ15406.
CleanExHS_NR6A1.
GenevestigatorQ15406.

Family and domain databases

Gene3D1.10.565.10. 3 hits.
3.30.50.10. 1 hit.
InterProIPR008946. 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]
PfamPF00104. Hormone_recep. 1 hit.
PF00105. zf-C4. 1 hit.
[Graphical view]
PRINTSPR00398. STRDHORMONER.
PR00047. STROIDFINGER.
SMARTSM00430. HOLI. 1 hit.
SM00399. ZnF_C4. 1 hit.
[Graphical view]
SUPFAMSSF48508. SSF48508. 2 hits.
PROSITEPS00031. NUCLEAR_REC_DBD_1. 1 hit.
PS51030. NUCLEAR_REC_DBD_2. 1 hit.
[Graphical view]
ProtoNetSearch...

Other

ChiTaRSNR6A1. human.
GeneWikiGerm_cell_nuclear_factor.
GenomeRNAi2649.
NextBio10454.
PROQ15406.
SOURCESearch...

Entry information

Entry nameNR6A1_HUMAN
AccessionPrimary (citable) accession number: Q15406
Secondary accession number(s): O00551 expand/collapse secondary AC list , O00603, Q5T6F4, Q8NHQ0, Q92898, Q99802
Entry history
Integrated into UniProtKB/Swiss-Prot: December 1, 2000
Last sequence update: December 1, 2000
Last modified: July 9, 2014
This is version 138 of the entry and version 2 of the sequence. [Complete history]
Entry statusReviewed (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.

Relevant documents

SIMILARITY comments

Index of protein domains and families

MIM cross-references

Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

Human chromosome 9

Human chromosome 9: entries, gene names and cross-references to MIM