GGNB2_HUMAN
ID GGNB2_HUMAN Reviewed; 697 AA.
AC Q9H3C7; B2RPK7; Q96T90; Q9GZR8; Q9H767;
DT 13-JUN-2006, integrated into UniProtKB/Swiss-Prot.
DT 01-MAR-2001, sequence version 1.
DT 03-AUG-2022, entry version 126.
DE RecName: Full=Gametogenetin-binding protein 2;
DE AltName: Full=Laryngeal carcinoma-related protein 1;
DE AltName: Full=Protein ZNF403;
GN Name=GGNBP2; Synonyms=LCRG1, LZK1, ZNF403;
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] (ISOFORM 2), AND TISSUE SPECIFICITY.
RX PubMed=15145523; DOI=10.1016/j.canlet.2003.11.034;
RA Li Y., Chen Z.;
RT "Molecular cloning and characterization of LCRG1 a novel gene localized to
RT the tumor suppressor locus D17S800-D17S930.";
RL Cancer Lett. 209:75-85(2004).
RN [2]
RP NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1).
RA Li Z.K., Ling Z.;
RT "Cloning of a novel gene of a zinc finger protein.";
RL Submitted (FEB-1999) to the EMBL/GenBank/DDBJ databases.
RN [3]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 3), AND NUCLEOTIDE SEQUENCE
RP [LARGE SCALE MRNA] OF 351-697.
RC TISSUE=Small intestine;
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 [4]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RA Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L., Mobarry C.M.,
RA Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R., Flanigan M.J.,
RA Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V., Hannenhalli S.,
RA Turner R., Yooseph S., Lu F., Nusskern D.R., Shue B.C., Zheng X.H.,
RA Zhong F., Delcher A.L., Huson D.H., Kravitz S.A., Mouchard L., Reinert K.,
RA Remington K.A., Clark A.G., Waterman M.S., Eichler E.E., Adams M.D.,
RA Hunkapiller M.W., Myers E.W., Venter J.C.;
RL Submitted (JUL-2005) to the EMBL/GenBank/DDBJ databases.
RN [5]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
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).
RN [6]
RP NUCLEOTIDE SEQUENCE [MRNA] OF 377-697.
RA Ruckes T.M., Saul D., Romaker D., Grassmann R.;
RT "Differential gene expression in HTLV-1-infected adult T cell leukemia cell
RT line.";
RL Submitted (DEC-2000) to the EMBL/GenBank/DDBJ databases.
RN [7]
RP IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
RC TISSUE=Cervix carcinoma;
RX PubMed=18669648; DOI=10.1073/pnas.0805139105;
RA Dephoure N., Zhou C., Villen J., Beausoleil S.A., Bakalarski C.E.,
RA Elledge S.J., Gygi S.P.;
RT "A quantitative atlas of mitotic phosphorylation.";
RL Proc. Natl. Acad. Sci. U.S.A. 105:10762-10767(2008).
RN [8]
RP PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-360, AND IDENTIFICATION BY
RP MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
RC TISSUE=Erythroleukemia;
RX PubMed=23186163; DOI=10.1021/pr300630k;
RA Zhou H., Di Palma S., Preisinger C., Peng M., Polat A.N., Heck A.J.,
RA Mohammed S.;
RT "Toward a comprehensive characterization of a human cancer cell
RT phosphoproteome.";
RL J. Proteome Res. 12:260-271(2013).
CC -!- FUNCTION: May be involved in spermatogenesis.
CC -!- SUBUNIT: Interacts with GGN. {ECO:0000250}.
CC -!- SUBCELLULAR LOCATION: Cytoplasmic vesicle {ECO:0000250}.
CC Note=Associated with vesicular structures. {ECO:0000250}.
CC -!- ALTERNATIVE PRODUCTS:
CC Event=Alternative splicing; Named isoforms=3;
CC Name=1;
CC IsoId=Q9H3C7-1; Sequence=Displayed;
CC Name=2;
CC IsoId=Q9H3C7-2; Sequence=VSP_019175, VSP_019176;
CC Name=3;
CC IsoId=Q9H3C7-3; Sequence=VSP_019177, VSP_019178;
CC -!- TISSUE SPECIFICITY: Expressed in heart, brain, placenta, lung, liver,
CC skeletal muscle, kidney and pancreas. Expressed more abundantly in
CC heart, pancreas and skeletal muscle. {ECO:0000269|PubMed:15145523}.
CC -!- MISCELLANEOUS: Strongly down-regulated in 40% of primary laryngeal
CC carcinoma and in 6 of 10 various cancer cell lines.
CC -!- SEQUENCE CAUTION:
CC Sequence=BAB15031.1; Type=Frameshift; Evidence={ECO:0000305};
CC Sequence=BAB15397.1; Type=Erroneous initiation; Evidence={ECO:0000305};
CC Sequence=CAC18878.1; Type=Frameshift; Evidence={ECO:0000305};
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; AF268387; AAK38614.1; -; mRNA.
DR EMBL; AF126964; AAG43247.1; -; mRNA.
DR EMBL; AK024883; BAB15031.1; ALT_FRAME; mRNA.
DR EMBL; AK026214; BAB15397.1; ALT_INIT; mRNA.
DR EMBL; CH471199; EAW57566.1; -; Genomic_DNA.
DR EMBL; BC137491; AAI37492.1; -; mRNA.
DR EMBL; AJ404670; CAC18878.1; ALT_FRAME; mRNA.
DR CCDS; CCDS11314.1; -. [Q9H3C7-1]
DR RefSeq; NP_079111.1; NM_024835.4. [Q9H3C7-1]
DR AlphaFoldDB; Q9H3C7; -.
DR SMR; Q9H3C7; -.
DR BioGRID; 122977; 10.
DR IntAct; Q9H3C7; 4.
DR STRING; 9606.ENSP00000478220; -.
DR iPTMnet; Q9H3C7; -.
DR PhosphoSitePlus; Q9H3C7; -.
DR BioMuta; GGNBP2; -.
DR DMDM; 74718217; -.
DR EPD; Q9H3C7; -.
DR jPOST; Q9H3C7; -.
DR MassIVE; Q9H3C7; -.
DR MaxQB; Q9H3C7; -.
DR PaxDb; Q9H3C7; -.
DR PeptideAtlas; Q9H3C7; -.
DR PRIDE; Q9H3C7; -.
DR ProteomicsDB; 80689; -. [Q9H3C7-1]
DR ProteomicsDB; 80690; -. [Q9H3C7-2]
DR ProteomicsDB; 80691; -. [Q9H3C7-3]
DR Antibodypedia; 73502; 95 antibodies from 17 providers.
DR DNASU; 79893; -.
DR Ensembl; ENST00000613102.5; ENSP00000478220.1; ENSG00000278311.5. [Q9H3C7-1]
DR Ensembl; ENST00000621686.2; ENSP00000478954.1; ENSG00000275099.2. [Q9H3C7-1]
DR GeneID; 79893; -.
DR KEGG; hsa:79893; -.
DR MANE-Select; ENST00000613102.5; ENSP00000478220.1; NM_024835.5; NP_079111.1.
DR UCSC; uc002hnb.4; human. [Q9H3C7-1]
DR CTD; 79893; -.
DR DisGeNET; 79893; -.
DR GeneCards; GGNBP2; -.
DR HGNC; HGNC:19357; GGNBP2.
DR HPA; ENSG00000278311; Low tissue specificity.
DR MIM; 612275; gene.
DR neXtProt; NX_Q9H3C7; -.
DR OpenTargets; ENSG00000278311; -.
DR PharmGKB; PA162389409; -.
DR VEuPathDB; HostDB:ENSG00000278311; -.
DR eggNOG; ENOG502QQ20; Eukaryota.
DR GeneTree; ENSGT00390000009552; -.
DR HOGENOM; CLU_024870_0_0_1; -.
DR InParanoid; Q9H3C7; -.
DR OMA; SEEKGYC; -.
DR OrthoDB; 398180at2759; -.
DR PhylomeDB; Q9H3C7; -.
DR TreeFam; TF323487; -.
DR PathwayCommons; Q9H3C7; -.
DR SignaLink; Q9H3C7; -.
DR BioGRID-ORCS; 79893; 109 hits in 1079 CRISPR screens.
DR ChiTaRS; GGNBP2; human.
DR GenomeRNAi; 79893; -.
DR Pharos; Q9H3C7; Tbio.
DR PRO; PR:Q9H3C7; -.
DR Proteomes; UP000005640; Chromosome 17.
DR RNAct; Q9H3C7; protein.
DR Bgee; ENSG00000278311; Expressed in left testis and 98 other tissues.
DR ExpressionAtlas; Q9H3C7; baseline and differential.
DR Genevisible; Q9H3C7; HS.
DR GO; GO:0005737; C:cytoplasm; IBA:GO_Central.
DR GO; GO:0031410; C:cytoplasmic vesicle; IEA:UniProtKB-KW.
DR GO; GO:0005634; C:nucleus; IBA:GO_Central.
DR GO; GO:0030154; P:cell differentiation; IEA:UniProtKB-KW.
DR GO; GO:0060716; P:labyrinthine layer blood vessel development; IEA:Ensembl.
DR GO; GO:0008285; P:negative regulation of cell population proliferation; IEA:Ensembl.
DR GO; GO:0010629; P:negative regulation of gene expression; IEA:Ensembl.
DR GO; GO:0033140; P:negative regulation of peptidyl-serine phosphorylation of STAT protein; IEA:Ensembl.
DR GO; GO:0061099; P:negative regulation of protein tyrosine kinase activity; IEA:Ensembl.
DR GO; GO:0042532; P:negative regulation of tyrosine phosphorylation of STAT protein; IEA:Ensembl.
DR GO; GO:0007283; P:spermatogenesis; IEA:UniProtKB-KW.
DR InterPro; IPR026073; GGNBP2.
DR PANTHER; PTHR13601; PTHR13601; 1.
PE 1: Evidence at protein level;
KW Alternative splicing; Cytoplasmic vesicle; Developmental protein;
KW Differentiation; Phosphoprotein; Reference proteome; Spermatogenesis.
FT CHAIN 1..697
FT /note="Gametogenetin-binding protein 2"
FT /id="PRO_0000239348"
FT MOD_RES 360
FT /note="Phosphoserine"
FT /evidence="ECO:0007744|PubMed:23186163"
FT VAR_SEQ 283..288
FT /note="RRERHA -> YEYVIC (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:15145523"
FT /id="VSP_019175"
FT VAR_SEQ 289..697
FT /note="Missing (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:15145523"
FT /id="VSP_019176"
FT VAR_SEQ 457
FT /note="L -> K (in isoform 3)"
FT /evidence="ECO:0000303|PubMed:14702039"
FT /id="VSP_019177"
FT VAR_SEQ 458..697
FT /note="Missing (in isoform 3)"
FT /evidence="ECO:0000303|PubMed:14702039"
FT /id="VSP_019178"
FT CONFLICT 415
FT /note="C -> Y (in Ref. 3; BAB15031)"
FT /evidence="ECO:0000305"
SQ SEQUENCE 697 AA; 79086 MW; FA57264D37BF7E5D CRC64;
MARLVAVCRD GEEEFPFERR QIPLYIDDTL TMVMEFPDNV LNLDGHQNNG AQLKQFIQRH
GMLKQQDLSI AMVVTSREVL SALSQLVPCV GCRRSVERLF SQLVESGNPA LEPLTVGPKG
VLSVTRSCMT DAKKLYTLFY VHGSKLNDMI DAIPKSKKNK RCQLHSLDTH KPKPLGGCWM
DVWELMSQEC RDEVVLIDSS CLLETLETYL RKHRFCTDCK NKVLRAYNIL IGELDCSKEK
GYCAALYEGL RCCPHERHIH VCCETDFIAH LLGRAEPEFA GGRRERHAKT IDIAQEEVLT
CLGIHLYERL HRIWQKLRAE EQTWQMLFYL GVDALRKSFE MTVEKVQGIS RLEQLCEEFS
EEERVRELKQ EKKRQKRKNR RKNKCVCDIP TPLQTADEKE VSQEKETDFI ENSSCKACGS
TEDGNTCVEV IVTNENTSCT CPSSGNLLGS PKIKKGLSPH CNGSDCGYSS SMEGSETGSR
EGSDVACTEG ICNHDEHGDD SCVHHCEDKE DDGDSCVECW ANSEENDTKG KNKKKKKKSK
ILKCDEHIQK LGSCITDPGN RETSGNTMHT VFHRDKTKDT HPESCCSSEK GGQPLPWFEH
RKNVPQFAEP TETLFGPDSG KGAKSLVELL DESECTSDEE IFISQDEIQS FMANNQSFYS
NREQYRQHLK EKFNKYCRLN DHKRPICSGW LTTAGAN