GenomeNet

Database: UniProt
Entry: GGN_HUMAN
LinkDB: GGN_HUMAN
Original site: GGN_HUMAN 
ID   GGN_HUMAN               Reviewed;         652 AA.
AC   Q86UU5; Q7RTU6; Q86UU4; Q8NAA1;
DT   13-JUN-2006, integrated into UniProtKB/Swiss-Prot.
DT   13-JUN-2006, sequence version 2.
DT   11-DEC-2019, entry version 112.
DE   RecName: Full=Gametogenetin;
GN   Name=GGN;
OS   Homo sapiens (Human).
OC   Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia;
OC   Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae;
OC   Homo.
OX   NCBI_TaxID=9606;
RN   [1]
RP   NUCLEOTIDE SEQUENCE [MRNA] (ISOFORMS 1 AND 3), AND ALTERNATIVE SPLICING
RP   (ISOFORM 2).
RX   PubMed=12574169; DOI=10.1074/jbc.m211023200;
RA   Lu B., Bishop C.E.;
RT   "Mouse GGN1 and GGN3, two germ cell-specific proteins from the single gene
RT   Ggn, interact with mouse POG and play a role in spermatogenesis.";
RL   J. Biol. Chem. 278:16289-16296(2003).
RN   [2]
RP   NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
RC   TISSUE=Testis;
RX   PubMed=14702039; DOI=10.1038/ng1285;
RA   Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R.,
RA   Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H.,
RA   Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S.,
RA   Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K.,
RA   Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H.,
RA   Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M.,
RA   Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K.,
RA   Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T.,
RA   Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M.,
RA   Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S.,
RA   Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H.,
RA   Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K.,
RA   Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N.,
RA   Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S.,
RA   Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O.,
RA   Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H.,
RA   Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B.,
RA   Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y.,
RA   Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K.,
RA   Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T.,
RA   Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T.,
RA   Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y.,
RA   Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H.,
RA   Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y.,
RA   Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H.,
RA   Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O.,
RA   Isogai T., Sugano S.;
RT   "Complete sequencing and characterization of 21,243 full-length human
RT   cDNAs.";
RL   Nat. Genet. 36:40-45(2004).
RN   [3]
RP   NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
RC   TISSUE=Testis;
RX   PubMed=15489334; DOI=10.1101/gr.2596504;
RG   The MGC Project Team;
RT   "The status, quality, and expansion of the NIH full-length cDNA project:
RT   the Mammalian Gene Collection (MGC).";
RL   Genome Res. 14:2121-2127(2004).
CC   -!- FUNCTION: May be involved in spermatogenesis. {ECO:0000250}.
CC   -!- SUBUNIT: Interacts with FANCL, GGNBP1 and ZNF403/GGNBP2. {ECO:0000250}.
CC   -!- INTERACTION:
CC       O75031:HSF2BP; NbExp=4; IntAct=EBI-10259069, EBI-7116203;
CC       Q6A162:KRT40; NbExp=3; IntAct=EBI-10259069, EBI-10171697;
CC       Q96B97:SH3KBP1; NbExp=4; IntAct=EBI-10259069, EBI-346595;
CC   -!- ALTERNATIVE PRODUCTS:
CC       Event=Alternative splicing; Named isoforms=3;
CC       Name=1;
CC         IsoId=Q86UU5-1; Sequence=Displayed;
CC       Name=2;
CC         IsoId=Q86UU5-2; Sequence=VSP_019166, VSP_019169, VSP_019170;
CC       Name=3;
CC         IsoId=Q86UU5-3; Sequence=VSP_019167, VSP_019168;
DR   EMBL; AF538035; AAP31500.1; -; mRNA.
DR   EMBL; AF538036; AAP31501.1; -; mRNA.
DR   EMBL; BK000550; DAA00240.1; -; mRNA.
DR   EMBL; AK093032; BAC04025.1; -; mRNA.
DR   EMBL; BC035008; AAH35008.1; -; mRNA.
DR   CCDS; CCDS12516.1; -. [Q86UU5-1]
DR   RefSeq; NP_689870.3; NM_152657.3. [Q86UU5-1]
DR   RefSeq; XP_005258676.1; XM_005258619.4. [Q86UU5-1]
DR   RefSeq; XP_016881940.1; XM_017026451.1. [Q86UU5-1]
DR   BioGrid; 128266; 3.
DR   IntAct; Q86UU5; 16.
DR   STRING; 9606.ENSP00000334940; -.
DR   iPTMnet; Q86UU5; -.
DR   PhosphoSitePlus; Q86UU5; -.
DR   BioMuta; GGN; -.
DR   DMDM; 108935993; -.
DR   jPOST; Q86UU5; -.
DR   MassIVE; Q86UU5; -.
DR   PaxDb; Q86UU5; -.
DR   PeptideAtlas; Q86UU5; -.
DR   PRIDE; Q86UU5; -.
DR   ProteomicsDB; 69897; -. [Q86UU5-1]
DR   ProteomicsDB; 69898; -. [Q86UU5-2]
DR   ProteomicsDB; 69899; -. [Q86UU5-3]
DR   DNASU; 199720; -.
DR   Ensembl; ENST00000334928; ENSP00000334940; ENSG00000179168. [Q86UU5-1]
DR   Ensembl; ENST00000585737; ENSP00000467295; ENSG00000179168. [Q86UU5-2]
DR   GeneID; 199720; -.
DR   KEGG; hsa:199720; -.
DR   UCSC; uc002oij.2; human. [Q86UU5-1]
DR   CTD; 199720; -.
DR   DisGeNET; 199720; -.
DR   EuPathDB; HostDB:ENSG00000179168.14; -.
DR   GeneCards; GGN; -.
DR   HGNC; HGNC:18869; GGN.
DR   MIM; 609966; gene.
DR   neXtProt; NX_Q86UU5; -.
DR   OpenTargets; ENSG00000179168; -.
DR   PharmGKB; PA134903452; -.
DR   eggNOG; ENOG410IVS8; Eukaryota.
DR   eggNOG; ENOG41115RQ; LUCA.
DR   GeneTree; ENSGT00700000104635; -.
DR   HOGENOM; HOG000112718; -.
DR   InParanoid; Q86UU5; -.
DR   OMA; PGQMHSA; -.
DR   OrthoDB; 1139345at2759; -.
DR   PhylomeDB; Q86UU5; -.
DR   TreeFam; TF337083; -.
DR   GenomeRNAi; 199720; -.
DR   Pharos; Q86UU5; Tbio.
DR   PRO; PR:Q86UU5; -.
DR   Proteomes; UP000005640; Chromosome 19.
DR   RNAct; Q86UU5; protein.
DR   Bgee; ENSG00000179168; Expressed in 85 organ(s), highest expression level in testis.
DR   ExpressionAtlas; Q86UU5; baseline and differential.
DR   Genevisible; Q86UU5; HS.
DR   GO; GO:0031625; F:ubiquitin protein ligase binding; IBA:GO_Central.
DR   GO; GO:0030154; P:cell differentiation; IEA:UniProtKB-KW.
DR   GO; GO:0006302; P:double-strand break repair; IEA:InterPro.
DR   GO; GO:0007276; P:gamete generation; ISS:UniProtKB.
DR   GO; GO:0007275; P:multicellular organism development; IEA:UniProtKB-KW.
DR   GO; GO:0007283; P:spermatogenesis; IEA:UniProtKB-KW.
DR   InterPro; IPR031400; GGN.
DR   PANTHER; PTHR47742; PTHR47742; 1.
DR   Pfam; PF15685; GGN; 1.
PE   1: Evidence at protein level;
KW   Alternative splicing; Developmental protein; Differentiation;
KW   Phosphoprotein; Reference proteome; Spermatogenesis.
FT   CHAIN           1..652
FT                   /note="Gametogenetin"
FT                   /id="PRO_0000239342"
FT   REGION          123..486
FT                   /note="Interaction with GGNBP1"
FT                   /evidence="ECO:0000250"
FT   REGION          491..652
FT                   /note="Interactions with ZNF403/GGNBP2 and OAZ3"
FT                   /evidence="ECO:0000250"
FT   COMPBIAS        52..520
FT                   /note="Pro-rich"
FT   COMPBIAS        561..568
FT                   /note="Poly-Gly"
FT   MOD_RES         389
FT                   /note="Phosphoserine"
FT                   /evidence="ECO:0000250|UniProtKB:Q66HC8"
FT   VAR_SEQ         1..83
FT                   /note="Missing (in isoform 2)"
FT                   /evidence="ECO:0000305"
FT                   /id="VSP_019166"
FT   VAR_SEQ         197..224
FT                   /note="SPPTESQAGPRNQGQTAGRARGGAPPHA -> CVRARTRGCAHQDPHAQEQG
FT                   FPCSPGRD (in isoform 3)"
FT                   /evidence="ECO:0000303|PubMed:12574169"
FT                   /id="VSP_019167"
FT   VAR_SEQ         225..652
FT                   /note="Missing (in isoform 3)"
FT                   /evidence="ECO:0000303|PubMed:12574169"
FT                   /id="VSP_019168"
FT   VAR_SEQ         540
FT                   /note="K -> A (in isoform 2)"
FT                   /evidence="ECO:0000305"
FT                   /id="VSP_019169"
FT   VAR_SEQ         541..652
FT                   /note="Missing (in isoform 2)"
FT                   /evidence="ECO:0000305"
FT                   /id="VSP_019170"
FT   CONFLICT        80
FT                   /note="P -> A (in Ref. 1; AAP31500/AAP31501)"
FT                   /evidence="ECO:0000305"
FT   CONFLICT        113
FT                   /note="K -> R (in Ref. 1; DAA00240)"
FT                   /evidence="ECO:0000305"
FT   CONFLICT        166..167
FT                   /note="PP -> AH (in Ref. 1; AAP31500/AAP31501)"
FT                   /evidence="ECO:0000305"
FT   CONFLICT        174..175
FT                   /note="PP -> SR (in Ref. 1; AAP31500)"
FT                   /evidence="ECO:0000305"
FT   CONFLICT        195
FT                   /note="P -> T (in Ref. 1; AAP31500)"
FT                   /evidence="ECO:0000305"
FT   CONFLICT        198
FT                   /note="P -> T (in Ref. 1; AAP31500)"
FT                   /evidence="ECO:0000305"
FT   CONFLICT        212
FT                   /note="T -> K (in Ref. 1; AAP31500)"
FT                   /evidence="ECO:0000305"
FT   CONFLICT        219
FT                   /note="G -> R (in Ref. 1; AAP31500)"
FT                   /evidence="ECO:0000305"
SQ   SEQUENCE   652 AA;  66699 MW;  94E88A5409FA7647 CRC64;
     MGNLQSEPSA GGGSRKVQPS DRAPDSRRTS LVEPEMTSQA MRLTRGLGVW FPGSATPPGL
     MVPREPQASP STLPLTLERP SPVMPPPEEA AAVSAPPPAP AGTLLPGPSK WQKPAGTPVP
     RIRRLLEASH RGQGDPPSLR PLKPPPPPRQ LSVKDTVPRA PSQFPPPLET WKPPPPLPSE
     RQPADRRITP ALATPASPPT ESQAGPRNQG QTAGRARGGA PPHAGEGEMA QPADSESGLS
     LLCKITFKSR PSLAPPAASS SLAAKASLGG GGGGGLFAAS GAISYAEVLK QGPLPPGAAR
     PLGEVSRGAQ EAEGGDGDGE GCSGPPSAPA SQARALPPPP YTTFPGSKPK FDWVSAPDGP
     ERHFRFNGAG GGIGAPRRRA AALSGPWGSP PPPPEQIHSA PGPRRPAPAL LAPPTFIFPA
     PTNGEPMRPG PPGLQELPPL PPPTPPPTLQ PPALQPTPLP VAPPLTPGLG HKESALAPTA
     APALPPALAA DQAPAPSPAP APTVAEPSPP VSAPAPAAAP IKTRTRRNKG SRAARGATRK
     DGLHGDGPRE RATATVPDSS GGGGGGSGAS QTGAANTRAA RHWLPFQVLN SCPCKCYCHH
     QPRHRRLPRN VSAWLSTSTN HLGEPPWVAT IKLSGSLVAK LEHYDLQATH SN
//
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