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Protein

Nuclear receptor subfamily 6 group A member 1

Gene

NR6A1

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -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).By similarity

Regions

Feature keyPosition(s)DescriptionActionsGraphical viewLength
DNA bindingi57 – 132Nuclear receptorPROSITE-ProRule annotationAdd BLAST76
Zinc fingeri60 – 80NR C4-typePROSITE-ProRule annotationAdd BLAST21
Zinc fingeri96 – 120NR C4-typePROSITE-ProRule annotationAdd BLAST25

GO - Molecular functioni

GO - Biological processi

Keywordsi

Molecular functionDNA-binding, Receptor
Biological processTranscription, Transcription regulation
LigandMetal-binding, Zinc

Enzyme and pathway databases

ReactomeiR-HSA-2892247 POU5F1 (OCT4), SOX2, NANOG activate genes related to proliferation
R-HSA-383280 Nuclear Receptor transcription pathway
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
Proteomesi
  • UP000005640 Componenti: Chromosome 9

Organism-specific databases

EuPathDBiHostDB:ENSG00000148200.16
HGNCiHGNC:7985 NR6A1
MIMi602778 gene
neXtProtiNX_Q15406

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Keywords - Cellular componenti

Nucleus

Pathology & Biotechi

Organism-specific databases

DisGeNETi2649
OpenTargetsiENSG00000148200
PharmGKBiPA31766

Chemistry databases

ChEMBLiCHEMBL1961793

Polymorphism and mutation databases

DMDMi12643728

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00000537411 – 480Nuclear receptor subfamily 6 group A member 1Add BLAST480

Proteomic databases

EPDiQ15406
MaxQBiQ15406
PaxDbiQ15406
PeptideAtlasiQ15406
PRIDEiQ15406
ProteomicsDBi60572
60573 [Q15406-2]
60574 [Q15406-3]
60575 [Q15406-4]
60576 [Q15406-5]

PTM databases

iPTMnetiQ15406
PhosphoSitePlusiQ15406

Expressioni

Tissue specificityi

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

Gene expression databases

BgeeiENSG00000148200
CleanExiHS_NR6A1
ExpressionAtlasiQ15406 baseline and differential
GenevisibleiQ15406 HS

Organism-specific databases

HPAiHPA031461
HPA045145

Interactioni

Subunit structurei

Homodimer. Interacts with UIMC1 (By similarity).By similarity

GO - Molecular functioni

Protein-protein interaction databases

BioGridi108919, 5 interactors
IntActiQ15406, 1 interactor
STRINGi9606.ENSP00000420267

Structurei

3D structure databases

ProteinModelPortaliQ15406
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Domaini249 – 480NR LBDPROSITE-ProRule annotationAdd BLAST232

Region

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Regioni172 – 253Sufficient for interaction with UIMC1By similarityAdd BLAST82

Sequence similaritiesi

Zinc finger

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Zinc fingeri60 – 80NR C4-typePROSITE-ProRule annotationAdd BLAST21
Zinc fingeri96 – 120NR C4-typePROSITE-ProRule annotationAdd BLAST25

Keywords - Domaini

Zinc-finger

Phylogenomic databases

eggNOGiKOG3575 Eukaryota
ENOG410XRZC LUCA
GeneTreeiENSGT00870000136388
HOVERGENiHBG052664
InParanoidiQ15406
KOiK08561
OMAiDQYMGMS
OrthoDBiEOG091G06MN
PhylomeDBiQ15406
TreeFamiTF350737

Family and domain databases

Gene3Di3.30.50.10, 1 hit
InterProiView protein in InterPro
IPR035500 NHR_like_dom_sf
IPR000536 Nucl_hrmn_rcpt_lig-bd
IPR001723 Nuclear_hrmn_rcpt
IPR001628 Znf_hrmn_rcpt
IPR013088 Znf_NHR/GATA
PfamiView protein in Pfam
PF00104 Hormone_recep, 1 hit
PF00105 zf-C4, 1 hit
PRINTSiPR00398 STRDHORMONER
PR00047 STROIDFINGER
SMARTiView protein in SMART
SM00430 HOLI, 1 hit
SM00399 ZnF_C4, 1 hit
SUPFAMiSSF48508 SSF48508, 2 hits
PROSITEiView protein in PROSITE
PS51843 NR_LBD, 1 hit
PS00031 NUCLEAR_REC_DBD_1, 1 hit
PS51030 NUCLEAR_REC_DBD_2, 1 hit

Sequences (5)i

Sequence statusi: Complete.

This entry describes 5 isoformsi produced by alternative splicing. AlignAdd to basket

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

        10         20         30         40         50
MERDEPPPSG GGGGGGSAGF LEPPAALPPP PRNGFCQDEL AELDPGTISV
60 70 80 90 100
SDDRAEQRTC LICGDRATGL HYGIISCEGC KGFFKRSICN KRVYRCSRDK
110 120 130 140 150
NCVMSRKQRN RCQYCRLLKC LQMGMNRKAI REDGMPGGRN KSIGPVQISE
160 170 180 190 200
EEIERIMSGQ EFEEEANHWS NHGDSDHSSP GNRASESNQP SPGSTLSSSR
210 220 230 240 250
SVELNGFMAF REQYMGMSVP PHYQYIPHLF SYSGHSPLLP QQARSLDPQS
260 270 280 290 300
YSLIHQLLSA EDLEPLGTPM LIEDGYAVTQ AELFALLCRL ADELLFRQIA
310 320 330 340 350
WIKKLPFFCE LSIKDYTCLL SSTWQELILL SSLTVYSKQI FGELADVTAK
360 370 380 390 400
YSPSDEELHR FSDEGMEVIE RLIYLYHKFH QLKVSNEEYA CMKAINFLNQ
410 420 430 440 450
DIRGLTSASQ LEQLNKRYWY ICQDFTEYKY THQPNRFPDL MMCLPEIRYI
460 470 480
AGKMVNVPLE QLPLLFKVVL HSCKTSVGKE
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)DescriptionActionsGraphical viewLength
Sequence conflicti90N → K in AAB06335 (PubMed:9134503).Curated1
Sequence conflicti129A → T in CAA68236 (PubMed:9493564).Curated1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_0037209 – 30Missing in isoform 3. 1 PublicationAdd BLAST22
Alternative sequenceiVSP_00372148 – 52ISVSD → N in isoform 2, isoform 3 and isoform 5. 3 Publications5
Alternative sequenceiVSP_025927199Missing in isoform 4 and isoform 5. 2 Publications1

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
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 Genomic DNA No translation available.
AL354928 Genomic DNA No translation available.
AL354979 Genomic DNA No translation available.
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_005251917.4 [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.3 human [Q15406-1]

Keywords - Coding sequence diversityi

Alternative splicing

Similar proteinsi

Entry informationi

Entry nameiNR6A1_HUMAN
AccessioniPrimary (citable) accession number: Q15406
Secondary accession number(s): O00551
, O00603, Q5T6F4, Q8NHQ0, Q92898, Q99802
Entry historyiIntegrated into UniProtKB/Swiss-Prot: December 1, 2000
Last sequence update: December 1, 2000
Last modified: July 18, 2018
This is version 175 of the entry and version 2 of the sequence. See 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

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