Germ cell nuclear factor

Germ cell nuclear factor: Nuclear receptor subfamily 6, group A, member 1

Identifiers

Symbols NR6A1; GCNF; GCNF1; NR61; RTR

External IDs OMIM: 602778 MGI: 1352459 HomoloGene: 36308 IUPHAR: NR6A1 GeneCards: NR6A1 Gene

Gene Ontology

Molecular function • DNA binding
• sequence-specific DNA binding transcription factor activity
• steroid hormone receptor activity
• ligand-dependent nuclear receptor activity
• zinc ion binding
• protein homodimerization activity
• sequence-specific DNA binding
• metal ion binding

Cellular component • nucleus
• nucleoplasm
• transcription factor complex

Biological process • negative regulation of transcription from RNA polymerase II promoter
• gamete generation
• spermatogenesis
• cell proliferation
• gene expression
• regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor

Sources: Amigo / QuickGO

RNA expression pattern

More reference expression data

Orthologs

Species Human Mouse

Entrez 2649 14536

Ensembl ENSG00000148200 ENSMUSG00000063972

UniProt Q15406 Q687Z3

RefSeq (mRNA) NM_001489.3 NM_010264

RefSeq (protein) NP_001480.3 NP_034394

Location (UCSC) Chr 9:
127.28 – 127.53 Mb Chr 2:
38.58 – 38.78 Mb

PubMed search [1] [2]

The germ cell nuclear factor (GCNF), also known as RTR (retinoid receptor-related testis-associated receptor) or NR6A1 (nuclear receptor subfamily 6, group A, member 1), is a protein that in humans is encoded by the NR6A1 gene.^[1]^[2] GCNF is a member of the nuclear receptor family of intracellular transcription factors .

In adults, GCNH is expressed mainly in the germ cells of gonads and is involved in the regulation of embryogenesis and germ cell differentiation.^[3]

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. The gene expresses three alternatively spliced transcript variants.^[4]

References

^ Lei W, Hirose T, Zhang LX, Adachi H, Spinella MJ, Dmitrovsky E, Jetten AM (1997). "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". J. Mol. Endocrinol. 18 (2): 167–76. doi:10.1677/jme.0.0180167. PMID 9134503.

^ Süsens U, Borgmeyer U (1996). "Characterization of the human germ cell nuclear factor gene". Biochim. Biophys. Acta 1309 (3): 179–82. PMID 8982251.

^ Zechel C (2005). "The germ cell nuclear factor (GCNF)". Mol. Reprod. Dev. 72 (4): 550–6. doi:10.1002/mrd.20377. PMID 16155958.

^ "Entrez Gene: NR6A1 nuclear receptor subfamily 6, group A, member 1". http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=2649.

Further reading

Greschik H, Schüle R (1999). "Germ cell nuclear factor: an orphan receptor with unexpected properties.". J. Mol. Med. 76 (12): 800–10. doi:10.1007/s001090050284. PMID 9846950.

Hirose T, O'Brien DA, Jetten AM (1995). "RTR: a new member of the nuclear receptor superfamily that is highly expressed in murine testis.". Gene 152 (2): 247–51. doi:10.1016/0378-1119(94)00656-D. PMID 7835709.

Yan ZH, Medvedev A, Hirose T, et al. (1997). "Characterization of the response element and DNA binding properties of the nuclear orphan receptor germ cell nuclear factor/retinoid receptor-related testis-associated receptor.". J. Biol. Chem. 272 (16): 10565–72. doi:10.1074/jbc.272.16.10565. PMID 9099702.

Kapelle M, Krätzschmar J, Husemann M, Schleuning WD (1997). "cDNA cloning of two closely related forms of human germ cell nuclear factor (GCNF).". Biochim. Biophys. Acta 1352 (1): 13–7. PMID 9177477.

Agoulnik IY, Cho Y, Niederberger C, et al. (1998). "Cloning, expression analysis and chromosomal localization of the human nuclear receptor gene GCNF.". FEBS Lett. 424 (1–2): 73–8. doi:10.1016/S0014-5793(98)00142-2. PMID 9537518.

Greschik H, Wurtz JM, Hublitz P, et al. (1999). "Characterization of the DNA-binding and dimerization properties of the nuclear orphan receptor germ cell nuclear factor.". Mol. Cell. Biol. 19 (1): 690–703. PMC 83926. PMID 9858592. http://www.pubmedcentral.nih.gov/articlerender.fcgi?tool=pmcentrez&artid=83926.

Schmitz TP, Süsens U, Borgmeyer U (1999). "DNA binding, protein interaction and differential expression of the human germ cell nuclear factor.". Biochim. Biophys. Acta 1446 (3): 173–80. PMID 10524192.

Yan Z, Jetten AM (2001). "Characterization of the repressor function of the nuclear orphan receptor retinoid receptor-related testis-associated receptor/germ cell nuclear factor.". J. Biol. Chem. 275 (45): 35077–85. doi:10.1074/jbc.M005566200. PMID 10940306.

Süsens U, Borgmeyer U (2001). "Genomic structure of the gene for mouse germ-cell nuclear factor (GCNF). II. Comparison with the genomic structure of the human GCNF gene.". Genome Biol. 2 (5): RESEARCH0017. doi:10.1186/gb-2001-2-5-research0017. PMC 32189. PMID 11387038. http://www.pubmedcentral.nih.gov/articlerender.fcgi?tool=pmcentrez&artid=32189.

Mehta DV, Kim YS, Dixon D, Jetten AM (2002). "Characterization of the expression of the retinoid-related, testis-associated receptor (RTR) in trophoblasts.". Placenta 23 (4): 281–7. doi:10.1053/plac.2001.0779. PMID 11969338.

Yan Z, Kim YS, Jetten AM (2002). "RAP80, a novel nuclear protein that interacts with the retinoid-related testis-associated receptor.". J. Biol. Chem. 277 (35): 32379–88. doi:10.1074/jbc.M203475200. PMID 12080054.

Lan ZJ, Chung AC, Xu X, et al. (2003). "The embryonic function of germ cell nuclear factor is dependent on the DNA binding domain.". J. Biol. Chem. 277 (52): 50660–7. doi:10.1074/jbc.M209586200. PMID 12381721.

Strausberg RL, Feingold EA, Grouse LH, et al. (2003). "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.". Proc. Natl. Acad. Sci. U.S.A. 99 (26): 16899–903. doi:10.1073/pnas.242603899. PMC 139241. PMID 12477932. http://www.pubmedcentral.nih.gov/articlerender.fcgi?tool=pmcentrez&artid=139241.

Yang G, Zhang YL, Buchold GM, et al. (2003). "Analysis of germ cell nuclear factor transcripts and protein expression during spermatogenesis.". Biol. Reprod. 68 (5): 1620–30. doi:10.1095/biolreprod.102.012013. PMID 12606326.

Rajkovic M, Middendorff R, Wetzel MG, et al. (2005). "Germ cell nuclear factor relieves cAMP-response element modulator tau-mediated activation of the testis-specific promoter of human mitochondrial glycerol-3-phosphate dehydrogenase.". J. Biol. Chem. 279 (50): 52493–9. doi:10.1074/jbc.M404467200. PMID 15456763.

Gerhard DS, Wagner L, Feingold EA, et al. (2004). "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).". Genome Res. 14 (10B): 2121–7. doi:10.1101/gr.2596504. PMC 528928. PMID 15489334. http://www.pubmedcentral.nih.gov/articlerender.fcgi?tool=pmcentrez&artid=528928.

External links

MeSH NR6A1+protein,+human

v · d · eTranscription factors and intracellular receptors

(1) Basic domains

(1.1) Basic leucine zipper (bZIP)

Activating transcription factor (AATF, 1, 2, 3, 4, 5, 6, 7) · AP-1 (c-Fos, FOSB, FOSL1, FOSL2, JDP2, c-Jun, JUNB, JUND) · BACH (1, 2) · BATF · BLZF1 · C/EBP (α, β, γ, δ, ε, ζ) · CREB (1, 3, L1) · CREM · DBP · DDIT3 · GABPA · HLF · MAF (B, F, G, K) · NFE (2, L1, L2, L3) · NFIL3 · NRL · NRF (1, 2, 3) · XBP1

(1.2) Basic helix-loop-helix (bHLH)

ATOH1 · AhR · AHRR · ARNT · ASCL1 · BHLHB2 · BMAL (ARNTL, ARNTL2) · CLOCK · EPAS1 · FIGLA · HAND (1, 2) · HES (5, 6) · HEY (1, 2, L) · HES1 · HIF (1A, 3A) · ID (1, 2, 3, 4) · LYL1 · MESP2 · MXD4 · MYCL1 · MYCN · Myogenic regulatory factors (MyoD, Myogenin, MYF5, MYF6) · Neurogenins (1, 2, 3) · NeuroD (1, 2) · NPAS (1, 2, 3) · OLIG (1, 2) · Pho4 · Scleraxis · SIM (1, 2) · TAL (1, 2) · Twist · USF1

(1.3) bHLH-ZIP

AP-4 · MAX · MITF · MNT · MLX · MXI1 · Myc · SREBP (1, 2)

(1.4) NF-1

NFI (A, B, C, X) · SMAD (R-SMAD (1, 2, 3, 5, 9) - I-SMAD (6, 7) - 4)

(1.5) RF-X

RFX (1, 2, 3, 4, 5, ANK)

(1.6) Basic helix-span-helix (bHSH)

AP-2 (α, β, γ, δ, ε)

(2) Zinc finger DNA-binding domains

(2.1) Nuclear receptor (Cys₄)

subfamily 1 (Thyroid hormone (α, β), CAR, FXR, LXR (α, β), PPAR (α, β/δ, γ), PXR, RAR (α, β, γ), ROR (α, β, γ), Rev-ErbA (α, β), VDR)
subfamily 2 (COUP-TF (I, II), Ear-2, HNF4 (α, γ), PNR, RXR (α, β, γ), Testicular receptor (2, 4), TLX)
subfamily 3 (Steroid hormone (Androgen, Estrogen (α, β), Glucocorticoid, Mineralocorticoid, Progesterone), Estrogen related (α, β, γ))
subfamily 4 NUR (NGFIB, NOR1, NURR1) · subfamily 5 (LRH-1, SF1) · subfamily 6 (GCNF) · subfamily 0 (DAX1, SHP)

(2.2) Other Cys₄

GATA (1, 2, 3, 4, 5, 6) · MTA (1, 2, 3) · TRPS1

(2.3) Cys₂His₂

General transcription factors (TFIIA, TFIIB, TFIID, TFIIE (1, 2), TFIIF (1, 2), TFIIH (1, 2, 4, 2I, 3A, 3C1, 3C2))
ATBF1 · BCL (6, 11A, 11B) · CTCF · E4F1 · EGR (1, 2, 3, 4) · ERV3 · GFI1 · GLI-Krüppel family (1, 2, 3, REST, S2, YY1) · HIC (1, 2) · HIVEP (1, 2, 3) · IKZF (1, 2, 3) · ILF (2, 3) · KLF (2, 3, 4, 5, 6, 7, 8, 9, 10, 11, 12, 13, 14, 15, 17) · MTF1 · MYT1 · OSR1 · PRDM9 · SALL (1, 2, 3, 4) · SP (1, 2, 4, 7, 8) · TSHZ3 · WT1 · Zbtb7 (7A, 7B) · ZBTB (16, 17, 20, 32, 33, 40) · zinc finger (3, 7, 9, 10, 19, 22, 24, 33B, 34, 35, 41, 43, 44, 51, 74, 143, 146, 148, 165, 202, 217, 219, 238, 239, 259, 267, 268, 281, 295, 300, 318, 330, 346, 350, 365, 366, 384, 423, 451, 452, 471, 593, 638, 644, 649, 655)

(2.4) Cys₆

HIVEP1

(2.5) Alternating composition

AIRE · DIDO1 · GRLF1 · ING (1, 2, 4) · JARID (1A, 1B, 1C, 1D, 2) · JMJD1B

(3) Helix-turn-helix domains

(3.1) Homeodomain

ARX · CDX (1, 2) · CRX · CUTL1 · DBX (1, 2) · DLX (3, 4, 5) · EMX2 · EN (1, 2) · FHL (1, 2, 3) · HESX1 · HHEX · HLX · Homeobox (A1, A2, A3, A4, A5, A7, A9, A10, A11, A13, B1, B2, B3, B4, B5, B6, B7, B8, B9, B13, C4, C5, C6, C8, C9, C10, C11, C12, C13, D1, D3, D4, D8, D9, D10, D11, D12, D13) · HOPX · IRX (1, 2, 3, 4, 5, 6, MKX) · LMX (1A, 1B) · MEIS (1, 2) · MEOX2 · MNX1 · MSX (1, 2) · NANOG · NKX (2-1, 2-2, 2-3, 2-5, 3-1, 3-2, 6-1, 6-2) · NOBOX · PBX (1, 2, 3) · PHF (1, 3, 6, 8, 10, 16, 17, 20, 21A) · PHOX (2A, 2B) · PITX (1, 2, 3) · POU domain (PIT-1, BRN-3: A, B, C, Octamer transcription factor: 1, 2, 3/4, 6, 7, 11) · OTX (1, 2) · PDX1 · SATB2 · SHOX2 · VAX1 · ZEB (1, 2)

(3.2) Paired box

PAX (1, 2, 3, 4, 5, 6, 7, 8, 9)

(3.3) Fork head / winged helix

E2F (1, 2, 3, 4, 5) · FOX proteins (A1, A2, A3, C1, C2, D3, D4, E1, E3, F1, G1, H1, J1, J2, K1, K2, L2, M1, N1, N3, O1, O3, O4, P1, P2, P3, P4)

(3.4) Heat Shock Factors

HSF (1, 2, 4)

(3.5) Tryptophan clusters

ELF (2, 4, 5) · EGF · ELK (1, 3, 4) · ERF · ETS (1, 2, ERG, SPIB) · ETV (1, 4, 5, 6) · FLI1 · Interferon regulatory factors (1, 2, 3, 4, 5, 6, 7, 8) · MYB · MYBL2

(3.6) TEA domain

transcriptional enhancer factor (1, 2, 3, 4)

(4) β-Scaffold factors with minor groove contacts

(4.1) Rel homology region

NF-κB (NFKB1, NFKB2, REL, RELA, RELB) · NFAT (C1, C2, C3, C4, 5)

(4.2) STAT

STAT (1, 2, 3, 4, 5, 6)

(4.3) p53

p53 · TBX (1, 2, 3, 5, 19, 21, 22, Brachyury, TBR1, TBR2) · TP63

(4.4) MADS box

Mef2 (A, B, C, D) · SRF

(4.6) TATA binding proteins

TBP · TBPL1

(4.7) High-mobility group

BBX · HMGB (1, 2, 3, 4) · HMGN (1, 2, 3, 4) · HNF (1A, 1B) · LEF1 · SOX (1, 2, 3, 4, 5, 6, 8, 9, 10, 11, 12, 13, 14, 15, 18, 21) · SRY · SSRP1 · TCF (3, 4) · TOX (1, 2, 3, 4)

(4.10) Cold-shock domain

CSDA, YBX1

(4.11) Runt

CBF (CBFA2T2, CBFA2T3, RUNX1, RUNX2, RUNX3, RUNX1T1)

(0) Other transcription factors

(0.2) HMGI(Y)

HMGA (1, 2) · HBP1

(0.3) Pocket domain

Rb · RBL1 · RBL2

(0.5) AP-2/EREBP-related factors

Apetala 2 · EREBP · B3

(0.6) Miscellaneous

ARID (1A, 1B, 2, 3A, 3B, 4A) · CAP · IFI (16, 35) · MLL (2, 3, T1) · MNDA · NFY (A, B, C) · Rho/Sigma

see also transcription factor/coregulator deficiencies
B bsyn: dna (repl, cycl, reco, repr) · tscr (fact, tcrg, nucl, rnat, rept, ptts) · tltn (risu, pttl, nexn) · dnab, rnab/runp · stru (domn, 1°, 2°, 3°, 4°)

Categories:
Human proteins
Chromosome 9 gene stubs
Intracellular receptors
Transcription factors

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Germ cell nuclear factor

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Germ cell nuclear factor

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