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 03-AUG-2022, entry version 125.
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 Q86UU5; Q9NYB9-2: ABI2; NbExp=3; IntAct=EBI-10259069, EBI-11096309;
CC Q86UU5; O95817: BAG3; NbExp=3; IntAct=EBI-10259069, EBI-747185;
CC Q86UU5; A8MQ03: CYSRT1; NbExp=3; IntAct=EBI-10259069, EBI-3867333;
CC Q86UU5; Q08379: GOLGA2; NbExp=3; IntAct=EBI-10259069, EBI-618309;
CC Q86UU5; P62993: GRB2; NbExp=3; IntAct=EBI-10259069, EBI-401755;
CC Q86UU5; Q9NSC5: HOMER3; NbExp=3; IntAct=EBI-10259069, EBI-748420;
CC Q86UU5; O75031: HSF2BP; NbExp=6; IntAct=EBI-10259069, EBI-7116203;
CC Q86UU5; Q6A162: KRT40; NbExp=3; IntAct=EBI-10259069, EBI-10171697;
CC Q86UU5; Q9BYR9: KRTAP2-4; NbExp=3; IntAct=EBI-10259069, EBI-14065470;
CC Q86UU5; P26371: KRTAP5-9; NbExp=3; IntAct=EBI-10259069, EBI-3958099;
CC Q86UU5; Q5JR59-3: MTUS2; NbExp=3; IntAct=EBI-10259069, EBI-11522433;
CC Q86UU5; O43639: NCK2; NbExp=3; IntAct=EBI-10259069, EBI-713635;
CC Q86UU5; P63244: RACK1; NbExp=3; IntAct=EBI-10259069, EBI-296739;
CC Q86UU5; Q96B97: SH3KBP1; NbExp=3; IntAct=EBI-10259069, EBI-346595;
CC Q86UU5; O00308: WWP2; NbExp=3; IntAct=EBI-10259069, EBI-743923;
CC Q86UU5; Q96E35: ZMYND19; NbExp=3; IntAct=EBI-10259069, EBI-746595;
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;
CC ---------------------------------------------------------------------------
CC Copyrighted by the UniProt Consortium, see https://www.uniprot.org/terms
CC Distributed under the Creative Commons Attribution (CC BY 4.0) License
CC ---------------------------------------------------------------------------
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 AlphaFoldDB; Q86UU5; -.
DR BioGRID; 128266; 31.
DR IntAct; Q86UU5; 16.
DR STRING; 9606.ENSP00000334940; -.
DR iPTMnet; Q86UU5; -.
DR PhosphoSitePlus; Q86UU5; -.
DR BioMuta; GGN; -.
DR DMDM; 108935993; -.
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 Antibodypedia; 30056; 69 antibodies from 17 providers.
DR DNASU; 199720; -.
DR Ensembl; ENST00000334928.11; ENSP00000334940.5; ENSG00000179168.15. [Q86UU5-1]
DR Ensembl; ENST00000585737.1; ENSP00000467295.1; ENSG00000179168.15. [Q86UU5-2]
DR GeneID; 199720; -.
DR KEGG; hsa:199720; -.
DR MANE-Select; ENST00000334928.11; ENSP00000334940.5; NM_152657.4; NP_689870.3.
DR UCSC; uc002oij.2; human. [Q86UU5-1]
DR CTD; 199720; -.
DR DisGeNET; 199720; -.
DR GeneCards; GGN; -.
DR HGNC; HGNC:18869; GGN.
DR HPA; ENSG00000179168; Tissue enriched (testis).
DR MIM; 609966; gene.
DR neXtProt; NX_Q86UU5; -.
DR OpenTargets; ENSG00000179168; -.
DR PharmGKB; PA134903452; -.
DR VEuPathDB; HostDB:ENSG00000179168; -.
DR eggNOG; ENOG502ST22; Eukaryota.
DR GeneTree; ENSGT00700000104635; -.
DR HOGENOM; CLU_031676_0_0_1; -.
DR InParanoid; Q86UU5; -.
DR OMA; PPGQMHS; -.
DR OrthoDB; 1139345at2759; -.
DR PhylomeDB; Q86UU5; -.
DR TreeFam; TF337083; -.
DR PathwayCommons; Q86UU5; -.
DR SignaLink; Q86UU5; -.
DR BioGRID-ORCS; 199720; 19 hits in 1074 CRISPR screens.
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 left testis and 92 other tissues.
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: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 1..39
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 52..237
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 123..486
FT /note="Interaction with GGNBP1"
FT /evidence="ECO:0000250"
FT REGION 251..273
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 291..473
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 488..576
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 491..652
FT /note="Interactions with ZNF403/GGNBP2 and OAZ3"
FT /evidence="ECO:0000250"
FT COMPBIAS 79..104
FT /note="Pro residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 138..152
FT /note="Pro residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 160..181
FT /note="Pro residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 195..210
FT /note="Polar residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 331..345
FT /note="Pro residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 386..415
FT /note="Pro residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 424..465
FT /note="Pro residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 489..516
FT /note="Pro residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 534..548
FT /note="Basic and acidic residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
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
