GMCL1_HUMAN
ID GMCL1_HUMAN Reviewed; 515 AA.
AC Q96IK5; Q9H826; Q9H8V7; Q9H927;
DT 24-MAY-2004, integrated into UniProtKB/Swiss-Prot.
DT 01-DEC-2001, sequence version 1.
DT 03-AUG-2022, entry version 152.
DE RecName: Full=Germ cell-less protein-like 1;
DE AltName: Full=Spermatogenesis-associated protein 29;
GN Name=GMCL1; Synonyms=BTBD13, GCL, SPATA29;
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].
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].
RC TISSUE=Ovary;
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 [3]
RP INTERACTION WITH EMD.
RX PubMed=12493765; DOI=10.1074/jbc.m208811200;
RA Holaska J.M., Lee K.K., Kowalski A.K., Wilson K.L.;
RT "Transcriptional repressor germ cell-less (GCL) and barrier to
RT autointegration factor (BAF) compete for binding to emerin in vitro.";
RL J. Biol. Chem. 278:6969-6975(2003).
CC -!- FUNCTION: Possible function in spermatogenesis. Enhances the
CC degradation of MDM2 and increases the amount of p53 probably by
CC modulating the nucleocytoplasmic transport (By similarity).
CC {ECO:0000250}.
CC -!- SUBUNIT: Interacts with TMPO-beta, TSG101 and TFDP2 (By similarity).
CC Interacts with EMD. {ECO:0000250, ECO:0000269|PubMed:12493765}.
CC -!- INTERACTION:
CC Q96IK5; Q9BWW8: APOL6; NbExp=3; IntAct=EBI-2548508, EBI-11574440;
CC Q96IK5; A0A0S2Z4M1: AXIN1; NbExp=3; IntAct=EBI-2548508, EBI-16429430;
CC Q96IK5; Q9BUH8: BEGAIN; NbExp=5; IntAct=EBI-2548508, EBI-742722;
CC Q96IK5; J3KQ12: BSCL2; NbExp=3; IntAct=EBI-2548508, EBI-11532900;
CC Q96IK5; Q13895: BYSL; NbExp=5; IntAct=EBI-2548508, EBI-358049;
CC Q96IK5; Q8IYE1: CCDC13; NbExp=5; IntAct=EBI-2548508, EBI-10961312;
CC Q96IK5; Q16543: CDC37; NbExp=3; IntAct=EBI-2548508, EBI-295634;
CC Q96IK5; O43822-4: CFAP410; NbExp=3; IntAct=EBI-2548508, EBI-11943144;
CC Q96IK5; Q9UKJ5: CHIC2; NbExp=3; IntAct=EBI-2548508, EBI-741528;
CC Q96IK5; Q96Q77: CIB3; NbExp=3; IntAct=EBI-2548508, EBI-10292696;
CC Q96IK5; Q13618: CUL3; NbExp=5; IntAct=EBI-2548508, EBI-456129;
CC Q96IK5; Q9UER7: DAXX; NbExp=3; IntAct=EBI-2548508, EBI-77321;
CC Q96IK5; Q08426: EHHADH; NbExp=3; IntAct=EBI-2548508, EBI-2339219;
CC Q96IK5; Q14241: ELOA; NbExp=3; IntAct=EBI-2548508, EBI-742350;
CC Q96IK5; O60645: EXOC3; NbExp=3; IntAct=EBI-2548508, EBI-1052278;
CC Q96IK5; Q96KS9: FAM167A; NbExp=6; IntAct=EBI-2548508, EBI-10290462;
CC Q96IK5; Q9Y247: FAM50B; NbExp=3; IntAct=EBI-2548508, EBI-742802;
CC Q96IK5; Q4VC44: FLYWCH1; NbExp=3; IntAct=EBI-2548508, EBI-719415;
CC Q96IK5; Q6PIV2: FOXR1; NbExp=3; IntAct=EBI-2548508, EBI-10253815;
CC Q96IK5; A0A158RFV5: GAGE1; NbExp=5; IntAct=EBI-2548508, EBI-22578224;
CC Q96IK5; A6NGK3: GAGE10; NbExp=4; IntAct=EBI-2548508, EBI-12281306;
CC Q96IK5; Q13066: GAGE2C; NbExp=6; IntAct=EBI-2548508, EBI-12329121;
CC Q96IK5; Q13069: GAGE5; NbExp=6; IntAct=EBI-2548508, EBI-745702;
CC Q96IK5; Q96IK5: GMCL1; NbExp=6; IntAct=EBI-2548508, EBI-2548508;
CC Q96IK5; A0A0C4DGM4: HYKK; NbExp=5; IntAct=EBI-2548508, EBI-10236738;
CC Q96IK5; Q63ZY3: KANK2; NbExp=3; IntAct=EBI-2548508, EBI-2556193;
CC Q96IK5; Q92993: KAT5; NbExp=5; IntAct=EBI-2548508, EBI-399080;
CC Q96IK5; Q9BVG8-5: KIFC3; NbExp=3; IntAct=EBI-2548508, EBI-14069005;
CC Q96IK5; O95678: KRT75; NbExp=3; IntAct=EBI-2548508, EBI-2949715;
CC Q96IK5; Q8TBB1: LNX1; NbExp=3; IntAct=EBI-2548508, EBI-739832;
CC Q96IK5; P55081: MFAP1; NbExp=3; IntAct=EBI-2548508, EBI-1048159;
CC Q96IK5; O15344: MID1; NbExp=10; IntAct=EBI-2548508, EBI-2340316;
CC Q96IK5; Q9UJV3-2: MID2; NbExp=5; IntAct=EBI-2548508, EBI-10172526;
CC Q96IK5; Q8N5J2-3: MINDY1; NbExp=3; IntAct=EBI-2548508, EBI-12382151;
CC Q96IK5; Q9UBU8-2: MORF4L1; NbExp=3; IntAct=EBI-2548508, EBI-10288852;
CC Q96IK5; Q8WY64: MYLIP; NbExp=3; IntAct=EBI-2548508, EBI-6952711;
CC Q96IK5; Q9ULV0-2: MYO5B; NbExp=3; IntAct=EBI-2548508, EBI-14093244;
CC Q96IK5; Q16649: NFIL3; NbExp=3; IntAct=EBI-2548508, EBI-3951858;
CC Q96IK5; Q9BYG5: PARD6B; NbExp=3; IntAct=EBI-2548508, EBI-295391;
CC Q96IK5; Q3KNR5: PAX4; NbExp=6; IntAct=EBI-2548508, EBI-10240813;
CC Q96IK5; Q96AQ6: PBXIP1; NbExp=5; IntAct=EBI-2548508, EBI-740845;
CC Q96IK5; Q4G0R1: PIBF1; NbExp=3; IntAct=EBI-2548508, EBI-14066006;
CC Q96IK5; Q8WWB5: PIH1D2; NbExp=3; IntAct=EBI-2548508, EBI-10232538;
CC Q96IK5; Q6NYC8: PPP1R18; NbExp=3; IntAct=EBI-2548508, EBI-2557469;
CC Q96IK5; O60260-5: PRKN; NbExp=3; IntAct=EBI-2548508, EBI-21251460;
CC Q96IK5; Q99633: PRPF18; NbExp=3; IntAct=EBI-2548508, EBI-2798416;
CC Q96IK5; P35236-2: PTPN7; NbExp=3; IntAct=EBI-2548508, EBI-12281408;
CC Q96IK5; Q2TAL8: QRICH1; NbExp=5; IntAct=EBI-2548508, EBI-2798044;
CC Q96IK5; P20936: RASA1; NbExp=3; IntAct=EBI-2548508, EBI-1026476;
CC Q96IK5; P78317: RNF4; NbExp=5; IntAct=EBI-2548508, EBI-2340927;
CC Q96IK5; O43148: RNMT; NbExp=3; IntAct=EBI-2548508, EBI-877832;
CC Q96IK5; Q6PI26: SHQ1; NbExp=3; IntAct=EBI-2548508, EBI-2515568;
CC Q96IK5; Q5T7P8-2: SYT6; NbExp=3; IntAct=EBI-2548508, EBI-10246152;
CC Q96IK5; Q86TI0: TBC1D1; NbExp=3; IntAct=EBI-2548508, EBI-1644036;
CC Q96IK5; Q86UE8: TLK2; NbExp=3; IntAct=EBI-2548508, EBI-1047967;
CC Q96IK5; P19474: TRIM21; NbExp=3; IntAct=EBI-2548508, EBI-81290;
CC Q96IK5; P63279: UBE2I; NbExp=4; IntAct=EBI-2548508, EBI-80168;
CC Q96IK5; Q7KZS0: UBE2I; NbExp=3; IntAct=EBI-2548508, EBI-10180829;
CC Q96IK5; Q96GT9: XAGE2; NbExp=5; IntAct=EBI-2548508, EBI-750167;
CC Q96IK5; Q8WTP9: XAGE3; NbExp=6; IntAct=EBI-2548508, EBI-6448284;
CC Q96IK5; P25490: YY1; NbExp=5; IntAct=EBI-2548508, EBI-765538;
CC Q96IK5; O43167: ZBTB24; NbExp=3; IntAct=EBI-2548508, EBI-744471;
CC Q96IK5; Q9NZV7: ZIM2; NbExp=3; IntAct=EBI-2548508, EBI-11962760;
CC Q96IK5; Q9UBW7: ZMYM2; NbExp=3; IntAct=EBI-2548508, EBI-2797576;
CC Q96IK5; P17027: ZNF23; NbExp=3; IntAct=EBI-2548508, EBI-5657766;
CC Q96IK5; Q96MP5: ZSWIM3; NbExp=3; IntAct=EBI-2548508, EBI-5235554;
CC Q96IK5; A0A384ME25; NbExp=3; IntAct=EBI-2548508, EBI-10211777;
CC -!- SUBCELLULAR LOCATION: Nucleus matrix {ECO:0000250}.
CC -!- SEQUENCE CAUTION:
CC Sequence=BAB14494.1; Type=Erroneous initiation; Evidence={ECO:0000305};
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DR EMBL; AK023119; BAB14416.1; -; mRNA.
DR EMBL; AK023261; BAB14494.1; ALT_INIT; mRNA.
DR EMBL; AK024042; BAB14796.1; -; mRNA.
DR EMBL; BC007420; AAH07420.1; -; mRNA.
DR CCDS; CCDS1895.1; -.
DR RefSeq; NP_848526.1; NM_178439.4.
DR AlphaFoldDB; Q96IK5; -.
DR SMR; Q96IK5; -.
DR BioGRID; 122152; 160.
DR IntAct; Q96IK5; 109.
DR MINT; Q96IK5; -.
DR STRING; 9606.ENSP00000282570; -.
DR iPTMnet; Q96IK5; -.
DR PhosphoSitePlus; Q96IK5; -.
DR BioMuta; GMCL1; -.
DR DMDM; 47605732; -.
DR EPD; Q96IK5; -.
DR jPOST; Q96IK5; -.
DR MassIVE; Q96IK5; -.
DR MaxQB; Q96IK5; -.
DR PaxDb; Q96IK5; -.
DR PeptideAtlas; Q96IK5; -.
DR PRIDE; Q96IK5; -.
DR ProteomicsDB; 76838; -.
DR Antibodypedia; 48205; 67 antibodies from 16 providers.
DR DNASU; 64395; -.
DR Ensembl; ENST00000282570.4; ENSP00000282570.3; ENSG00000087338.5.
DR GeneID; 64395; -.
DR KEGG; hsa:64395; -.
DR MANE-Select; ENST00000282570.4; ENSP00000282570.3; NM_178439.5; NP_848526.1.
DR UCSC; uc002sfu.4; human.
DR CTD; 64395; -.
DR DisGeNET; 64395; -.
DR GeneCards; GMCL1; -.
DR HGNC; HGNC:23843; GMCL1.
DR HPA; ENSG00000087338; Low tissue specificity.
DR MIM; 618627; gene.
DR neXtProt; NX_Q96IK5; -.
DR OpenTargets; ENSG00000087338; -.
DR PharmGKB; PA143485477; -.
DR VEuPathDB; HostDB:ENSG00000087338; -.
DR eggNOG; KOG4682; Eukaryota.
DR GeneTree; ENSGT00940000156185; -.
DR HOGENOM; CLU_025961_2_0_1; -.
DR InParanoid; Q96IK5; -.
DR OMA; GFNYGMD; -.
DR OrthoDB; 1111791at2759; -.
DR PhylomeDB; Q96IK5; -.
DR TreeFam; TF316048; -.
DR PathwayCommons; Q96IK5; -.
DR SignaLink; Q96IK5; -.
DR BioGRID-ORCS; 64395; 12 hits in 1111 CRISPR screens.
DR ChiTaRS; GMCL1; human.
DR GenomeRNAi; 64395; -.
DR Pharos; Q96IK5; Tbio.
DR PRO; PR:Q96IK5; -.
DR Proteomes; UP000005640; Chromosome 2.
DR RNAct; Q96IK5; protein.
DR Bgee; ENSG00000087338; Expressed in secondary oocyte and 177 other tissues.
DR ExpressionAtlas; Q96IK5; baseline and differential.
DR Genevisible; Q96IK5; HS.
DR GO; GO:0016363; C:nuclear matrix; IEA:UniProtKB-SubCell.
DR GO; GO:0005634; C:nucleus; IBA:GO_Central.
DR GO; GO:0042802; F:identical protein binding; IPI:IntAct.
DR GO; GO:0007281; P:germ cell development; IEA:InterPro.
DR GO; GO:0007283; P:spermatogenesis; IEA:UniProtKB-KW.
DR Gene3D; 3.30.710.10; -; 1.
DR InterPro; IPR011705; BACK.
DR InterPro; IPR000210; BTB/POZ_dom.
DR InterPro; IPR043380; Gcl-like.
DR InterPro; IPR011333; SKP1/BTB/POZ_sf.
DR PANTHER; PTHR23231; PTHR23231; 1.
DR Pfam; PF07707; BACK; 1.
DR Pfam; PF00651; BTB; 1.
DR SMART; SM00875; BACK; 1.
DR SMART; SM00225; BTB; 1.
DR SUPFAM; SSF54695; SSF54695; 1.
DR PROSITE; PS50097; BTB; 1.
PE 1: Evidence at protein level;
KW Developmental protein; Differentiation; Nucleus; Phosphoprotein;
KW Reference proteome; Spermatogenesis.
FT CHAIN 1..515
FT /note="Germ cell-less protein-like 1"
FT /id="PRO_0000087520"
FT DOMAIN 108..178
FT /note="BTB"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00037"
FT REGION 1..35
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 65..85
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT MOTIF 49..55
FT /note="Nuclear localization signal"
FT /evidence="ECO:0000255"
FT MOTIF 85..91
FT /note="Nuclear localization signal"
FT /evidence="ECO:0000255"
FT MOD_RES 66
FT /note="Phosphoserine"
FT /evidence="ECO:0000250|UniProtKB:Q920G9"
FT MOD_RES 68
FT /note="Phosphothreonine"
FT /evidence="ECO:0000250|UniProtKB:Q920G9"
FT CONFLICT 157
FT /note="I -> M (in Ref. 1; BAB14416)"
FT /evidence="ECO:0000305"
FT CONFLICT 160
FT /note="E -> G (in Ref. 1; BAB14796)"
FT /evidence="ECO:0000305"
FT CONFLICT 160
FT /note="E -> V (in Ref. 1; BAB14494)"
FT /evidence="ECO:0000305"
FT CONFLICT 207
FT /note="T -> A (in Ref. 1; BAB14796)"
FT /evidence="ECO:0000305"
FT CONFLICT 325
FT /note="K -> N (in Ref. 1; BAB14494)"
FT /evidence="ECO:0000305"
SQ SEQUENCE 515 AA; 58685 MW; DA310AEE9CE1AEEE CRC64;
MGSLSSRVLR QPRPALAQQA QGARAGGSAR RPDTGDDAAG HGFCYCAGSH KRKRSSGSFC
YCHPDSETDE DEEEGDEQQR LLNTPRRKKL KSTSKYIYQT LFLNGENSDI KICALGEEWS
LHKIYLCQSG YFSSMFSGSW KESSMNIIEL EIPDQNIDVE ALQVAFGSLY RDDVLIKPSR
VVAILAAACL LQLDGLIQQC GETMKETVNV KTVCGYYTSA GTYGLDSVKK KCLEWLLNNL
MTHQNVELFK ELSINVMKQL IGSSNLFVMQ VEMDIYTALK KWMFLQLVPS WNGSLKQLLT
ETDVWFSKQR KDFEGMAFLE TEQGKPFVSV FRHLRLQYII SDLASARIIE QDAVVPSEWL
SSVYKQQWFA MLRAEQDSEV GPQEINKEEL EGNSMRCGRK LAKDGEYCWR WTGFNFGFDL
LVTYTNRYII FKRNTLNQPC SGSVSLQPRR SIAFRLRLAS FDSSGKLICS RTTGYQILTL
EKDQEQVVMN LDSRLLIFPL YICCNFLYIS PEKKN
