GIN1_HUMAN
ID GIN1_HUMAN Reviewed; 522 AA.
AC Q9NXP7; B2RXF7; B4DIV4; Q6AI03; Q96BR2;
DT 20-MAY-2008, integrated into UniProtKB/Swiss-Prot.
DT 18-MAY-2010, sequence version 3.
DT 03-AUG-2022, entry version 138.
DE RecName: Full=Gypsy retrotransposon integrase-like protein 1;
DE Short=GIN-1;
DE AltName: Full=Ty3/Gypsy integrase 1;
DE AltName: Full=Zinc finger H2C2 domain-containing protein;
GN Name=GIN1; Synonyms=TGIN1, ZH2C2;
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 [LARGE SCALE MRNA] (ISOFORM 1), AND VARIANT MET-239.
RC TISSUE=Colon, and Hippocampus;
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 [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2).
RC TISSUE=Seminoma;
RX PubMed=17974005; DOI=10.1186/1471-2164-8-399;
RA Bechtel S., Rosenfelder H., Duda A., Schmidt C.P., Ernst U.,
RA Wellenreuther R., Mehrle A., Schuster C., Bahr A., Bloecker H., Heubner D.,
RA Hoerlein A., Michel G., Wedler H., Koehrer K., Ottenwaelder B., Poustka A.,
RA Wiemann S., Schupp I.;
RT "The full-ORF clone resource of the German cDNA consortium.";
RL BMC Genomics 8:399-399(2007).
RN [3]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RX PubMed=15372022; DOI=10.1038/nature02919;
RA Schmutz J., Martin J., Terry A., Couronne O., Grimwood J., Lowry S.,
RA Gordon L.A., Scott D., Xie G., Huang W., Hellsten U., Tran-Gyamfi M.,
RA She X., Prabhakar S., Aerts A., Altherr M., Bajorek E., Black S.,
RA Branscomb E., Caoile C., Challacombe J.F., Chan Y.M., Denys M.,
RA Detter J.C., Escobar J., Flowers D., Fotopulos D., Glavina T., Gomez M.,
RA Gonzales E., Goodstein D., Grigoriev I., Groza M., Hammon N., Hawkins T.,
RA Haydu L., Israni S., Jett J., Kadner K., Kimball H., Kobayashi A.,
RA Lopez F., Lou Y., Martinez D., Medina C., Morgan J., Nandkeshwar R.,
RA Noonan J.P., Pitluck S., Pollard M., Predki P., Priest J., Ramirez L.,
RA Retterer J., Rodriguez A., Rogers S., Salamov A., Salazar A., Thayer N.,
RA Tice H., Tsai M., Ustaszewska A., Vo N., Wheeler J., Wu K., Yang J.,
RA Dickson M., Cheng J.-F., Eichler E.E., Olsen A., Pennacchio L.A.,
RA Rokhsar D.S., Richardson P., Lucas S.M., Myers R.M., Rubin E.M.;
RT "The DNA sequence and comparative analysis of human chromosome 5.";
RL Nature 431:268-274(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 (SEP-2005) to the EMBL/GenBank/DDBJ databases.
RN [5]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 1 AND 3), AND VARIANTS
RP CYS-22 AND MET-239.
RC TISSUE=Brain, and Kidney;
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 IDENTIFICATION, AND TISSUE SPECIFICITY.
RX PubMed=11470852; DOI=10.1093/oxfordjournals.molbev.a003947;
RA Llorens C., Marin I.;
RT "A mammalian gene evolved from the integrase domain of an LTR
RT retrotransposon.";
RL Mol. Biol. Evol. 18:1597-1600(2001).
RN [7]
RP PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-502, 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 -!- ALTERNATIVE PRODUCTS:
CC Event=Alternative splicing; Named isoforms=3;
CC Name=1;
CC IsoId=Q9NXP7-1; Sequence=Displayed;
CC Name=2;
CC IsoId=Q9NXP7-2; Sequence=VSP_038518, VSP_038519;
CC Name=3;
CC IsoId=Q9NXP7-3; Sequence=VSP_033438, VSP_033439;
CC -!- TISSUE SPECIFICITY: Widely expressed. Also found in tumors originating
CC from parathyroid gland, colon, stomach, bladder, uterus and prostate.
CC {ECO:0000269|PubMed:11470852}.
CC -!- MISCELLANEOUS: [Isoform 2]: May be produced at very low levels due to a
CC premature stop codon in the mRNA, leading to nonsense-mediated mRNA
CC decay. {ECO:0000305}.
CC -!- SEQUENCE CAUTION:
CC Sequence=BAA90963.1; Type=Frameshift; Evidence={ECO:0000305};
CC Sequence=CAH10511.1; Type=Miscellaneous discrepancy; Note=Wrong choice of CDS.; Evidence={ECO:0000305};
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DR EMBL; AK000132; BAA90963.1; ALT_FRAME; mRNA.
DR EMBL; AK295796; BAG58616.1; -; mRNA.
DR EMBL; CR627424; CAH10511.1; ALT_SEQ; mRNA.
DR EMBL; AC008447; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; CH471086; EAW49080.1; -; Genomic_DNA.
DR EMBL; BC015325; AAH15325.1; -; mRNA.
DR EMBL; BC151135; AAI51136.1; -; mRNA.
DR EMBL; BC157835; AAI57836.1; -; mRNA.
DR CCDS; CCDS43349.1; -. [Q9NXP7-1]
DR RefSeq; NP_001304883.1; NM_001317954.1.
DR RefSeq; NP_060146.2; NM_017676.2. [Q9NXP7-1]
DR RefSeq; XP_016865088.1; XM_017009599.1. [Q9NXP7-1]
DR AlphaFoldDB; Q9NXP7; -.
DR SMR; Q9NXP7; -.
DR BioGRID; 120180; 6.
DR IntAct; Q9NXP7; 2.
DR STRING; 9606.ENSP00000381970; -.
DR iPTMnet; Q9NXP7; -.
DR PhosphoSitePlus; Q9NXP7; -.
DR BioMuta; GIN1; -.
DR DMDM; 296439336; -.
DR jPOST; Q9NXP7; -.
DR MassIVE; Q9NXP7; -.
DR MaxQB; Q9NXP7; -.
DR PaxDb; Q9NXP7; -.
DR PeptideAtlas; Q9NXP7; -.
DR PRIDE; Q9NXP7; -.
DR ProteomicsDB; 83117; -. [Q9NXP7-1]
DR ProteomicsDB; 83118; -. [Q9NXP7-2]
DR ProteomicsDB; 83119; -. [Q9NXP7-3]
DR Antibodypedia; 48162; 61 antibodies from 14 providers.
DR DNASU; 54826; -.
DR Ensembl; ENST00000399004.7; ENSP00000381970.2; ENSG00000145723.17. [Q9NXP7-1]
DR Ensembl; ENST00000508629.5; ENSP00000427162.1; ENSG00000145723.17. [Q9NXP7-3]
DR Ensembl; ENST00000512248.5; ENSP00000422960.1; ENSG00000145723.17. [Q9NXP7-2]
DR Ensembl; ENST00000513747.1; ENSP00000423031.1; ENSG00000145723.17. [Q9NXP7-2]
DR GeneID; 54826; -.
DR KEGG; hsa:54826; -.
DR MANE-Select; ENST00000399004.7; ENSP00000381970.2; NM_017676.2; NP_060146.2.
DR UCSC; uc003koa.2; human. [Q9NXP7-1]
DR CTD; 54826; -.
DR DisGeNET; 54826; -.
DR GeneCards; GIN1; -.
DR HGNC; HGNC:25959; GIN1.
DR HPA; ENSG00000145723; Low tissue specificity.
DR neXtProt; NX_Q9NXP7; -.
DR OpenTargets; ENSG00000145723; -.
DR PharmGKB; PA162389674; -.
DR VEuPathDB; HostDB:ENSG00000145723; -.
DR eggNOG; KOG0017; Eukaryota.
DR GeneTree; ENSGT00940000160670; -.
DR HOGENOM; CLU_2589081_0_0_1; -.
DR InParanoid; Q9NXP7; -.
DR OMA; FQSEWIG; -.
DR OrthoDB; 583605at2759; -.
DR PhylomeDB; Q9NXP7; -.
DR TreeFam; TF352301; -.
DR PathwayCommons; Q9NXP7; -.
DR SignaLink; Q9NXP7; -.
DR BioGRID-ORCS; 54826; 8 hits in 1070 CRISPR screens.
DR ChiTaRS; GIN1; human.
DR GenomeRNAi; 54826; -.
DR Pharos; Q9NXP7; Tbio.
DR PRO; PR:Q9NXP7; -.
DR Proteomes; UP000005640; Chromosome 5.
DR RNAct; Q9NXP7; protein.
DR Bgee; ENSG00000145723; Expressed in biceps brachii and 176 other tissues.
DR Genevisible; Q9NXP7; HS.
DR GO; GO:0003676; F:nucleic acid binding; IEA:InterPro.
DR GO; GO:0015074; P:DNA integration; IEA:InterPro.
DR Gene3D; 3.30.420.10; -; 1.
DR InterPro; IPR001584; Integrase_cat-core.
DR InterPro; IPR041588; Integrase_H2C2.
DR InterPro; IPR012337; RNaseH-like_sf.
DR InterPro; IPR036397; RNaseH_sf.
DR Pfam; PF17921; Integrase_H2C2; 1.
DR SUPFAM; SSF53098; SSF53098; 1.
DR PROSITE; PS50994; INTEGRASE; 1.
PE 1: Evidence at protein level;
KW Alternative splicing; Phosphoprotein; Reference proteome.
FT CHAIN 1..522
FT /note="Gypsy retrotransposon integrase-like protein 1"
FT /id="PRO_0000333016"
FT DOMAIN 135..292
FT /note="Integrase catalytic"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00457"
FT MOD_RES 502
FT /note="Phosphoserine"
FT /evidence="ECO:0007744|PubMed:23186163"
FT VAR_SEQ 47..80
FT /note="EKKLFYVGKDRKQNRLVIVSEEEKKKVLRECHEN -> GICLSALPSGKKYS
FT YCSTETAPSQGGKSMEFSYC (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:17974005"
FT /id="VSP_038518"
FT VAR_SEQ 81..522
FT /note="Missing (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:17974005"
FT /id="VSP_038519"
FT VAR_SEQ 214..222
FT /note="INIELYRLF -> KVFISCKVQ (in isoform 3)"
FT /evidence="ECO:0000303|PubMed:15489334"
FT /id="VSP_033438"
FT VAR_SEQ 223..522
FT /note="Missing (in isoform 3)"
FT /evidence="ECO:0000303|PubMed:15489334"
FT /id="VSP_033439"
FT VARIANT 22
FT /note="G -> C (in dbSNP:rs17851289)"
FT /evidence="ECO:0000269|PubMed:15489334"
FT /id="VAR_043041"
FT VARIANT 239
FT /note="T -> M (in dbSNP:rs34813)"
FT /evidence="ECO:0000269|PubMed:14702039,
FT ECO:0000269|PubMed:15489334"
FT /id="VAR_043042"
FT CONFLICT 108
FT /note="V -> A (in Ref. 1; BAA90963)"
FT /evidence="ECO:0000305"
FT CONFLICT 313
FT /note="F -> L (in Ref. 2; CAH10511)"
FT /evidence="ECO:0000305"
SQ SEQUENCE 522 AA; 59842 MW; 5375EC9B009D8B9F CRC64;
MVRSGKNGDL HLKQIAYYKR TGEYHSTTLP SERSGIRRAA KKFVFKEKKL FYVGKDRKQN
RLVIVSEEEK KKVLRECHEN DSGAHHGISR TLTLVESNYY WTSVTNDVKQ WVYACQHCQV
AKNTVIVAPK QHLLKVENPW SLVTVDLMGP FHTSNRSHVY AIIMTDLFTK WIVILPLCDV
SASEVSKAII NIFFLYGPPQ KIIMDQRDEF IQQINIELYR LFGIKQIVIS HTSGTVNPTE
STPNTIKAFL SKHCADHPNN WDDHLSAVSF AFNVTHLEPT KNTPYFQMFS RNPYMPETSD
SLHEVDGDNT SMFAKILDAI KEADKIMENK TTSLGQMENN NLDELNKSKI IVKKKPKQLN
PFHLKVGHEV LRQRKNWWKD GRFQSEWVGP CVIDYITESG CAVLRDNTGV RLKRPIKMSH
LKPYIRESSE QESLYLLQGS VVADHDYIGL PEIPIGAYQA NILVEDATIG IVDNELLTSS
KDRELLEYRN TKISPLIDDH SSLEKQTFSL LDSSNQVLEY LS
