GMCL2_HUMAN
ID GMCL2_HUMAN Reviewed; 526 AA.
AC Q8NEA9; B2RDW6; Q2VIQ8; Q8TC88; Q8TC89;
DT 24-MAY-2004, integrated into UniProtKB/Swiss-Prot.
DT 28-FEB-2018, sequence version 2.
DT 03-AUG-2022, entry version 149.
DE RecName: Full=Germ cell-less protein-like 2 {ECO:0000305};
DE AltName: Full=Germ cell-less protein-like 1-like;
GN Name=GMCL2 {ECO:0000312|HGNC:HGNC:19717}; Synonyms=GCL, GMCL1L, GMCL1P1;
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].
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 [2]
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 [3]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
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).
RN [4]
RP NUCLEOTIDE SEQUENCE [GENOMIC DNA] OF 1-513, EVOLUTIONARY ANALYSIS, AND
RP TISSUE SPECIFICITY.
RX PubMed=16201836; DOI=10.1371/journal.pbio.0030357;
RA Marques A.C., Dupanloup I., Vinckenbosch N., Reymond A., Kaessmann H.;
RT "Emergence of young human genes after a burst of retroposition in
RT primates.";
RL PLoS Biol. 3:E357-E357(2005).
RN [5]
RP FUNCTION AS AN E3 UBIQUITIN-PROTEIN LIGASE, AND INTERACTION WITH CUL3.
RX PubMed=14528312; DOI=10.1038/ncb1056;
RA Furukawa M., He Y.J., Borchers C., Xiong Y.;
RT "Targeting of protein ubiquitination by BTB-Cullin 3-Roc1 ubiquitin
RT ligases.";
RL Nat. Cell Biol. 5:1001-1007(2003).
RN [6]
RP VARIANT [LARGE SCALE ANALYSIS] ALA-275.
RX PubMed=16959974; DOI=10.1126/science.1133427;
RA Sjoeblom T., Jones S., Wood L.D., Parsons D.W., Lin J., Barber T.D.,
RA Mandelker D., Leary R.J., Ptak J., Silliman N., Szabo S., Buckhaults P.,
RA Farrell C., Meeh P., Markowitz S.D., Willis J., Dawson D., Willson J.K.V.,
RA Gazdar A.F., Hartigan J., Wu L., Liu C., Parmigiani G., Park B.H.,
RA Bachman K.E., Papadopoulos N., Vogelstein B., Kinzler K.W.,
RA Velculescu V.E.;
RT "The consensus coding sequences of human breast and colorectal cancers.";
RL Science 314:268-274(2006).
CC -!- FUNCTION: Possible function in spermatogenesis. Probable substrate-
CC specific adapter of an E3 ubiquitin-protein ligase complex which
CC mediates the ubiquitination and subsequent proteasomal degradation of
CC target proteins (PubMed:14528312). {ECO:0000250|UniProtKB:Q920G9,
CC ECO:0000269|PubMed:14528312}.
CC -!- PATHWAY: Protein modification; protein ubiquitination.
CC {ECO:0000269|PubMed:14528312}.
CC -!- SUBUNIT: Interacts with CUL3. {ECO:0000269|PubMed:14528312}.
CC -!- INTERACTION:
CC Q8NEA9; Q6UY14-3: ADAMTSL4; NbExp=3; IntAct=EBI-745707, EBI-10173507;
CC Q8NEA9; Q9H165-2: BCL11A; NbExp=3; IntAct=EBI-745707, EBI-10183342;
CC Q8NEA9; P23560-2: BDNF; NbExp=3; IntAct=EBI-745707, EBI-12275524;
CC Q8NEA9; O14503: BHLHE40; NbExp=3; IntAct=EBI-745707, EBI-711810;
CC Q8NEA9; Q9NX63: CHCHD3; NbExp=3; IntAct=EBI-745707, EBI-743375;
CC Q8NEA9; G5E9A7: DMWD; NbExp=3; IntAct=EBI-745707, EBI-10976677;
CC Q8NEA9; Q53SE7: FLJ13057; NbExp=3; IntAct=EBI-745707, EBI-10172181;
CC Q8NEA9; A1L429: GAGE12E; NbExp=3; IntAct=EBI-745707, EBI-10172187;
CC Q8NEA9; P0CL82: GAGE12I; NbExp=3; IntAct=EBI-745707, EBI-10196803;
CC Q8NEA9; Q9UEU5: GAGE2D; NbExp=5; IntAct=EBI-745707, EBI-751641;
CC Q8NEA9; Q13069: GAGE5; NbExp=4; IntAct=EBI-745707, EBI-745702;
CC Q8NEA9; P04406: GAPDH; NbExp=3; IntAct=EBI-745707, EBI-354056;
CC Q8NEA9; P52272: HNRNPM; NbExp=3; IntAct=EBI-745707, EBI-486809;
CC Q8NEA9; Q13422: IKZF1; NbExp=3; IntAct=EBI-745707, EBI-745305;
CC Q8NEA9; Q8WXH2: JPH3; NbExp=3; IntAct=EBI-745707, EBI-1055254;
CC Q8NEA9; Q92993: KAT5; NbExp=3; IntAct=EBI-745707, EBI-399080;
CC Q8NEA9; P0CW20: LIMS4; NbExp=3; IntAct=EBI-745707, EBI-10196832;
CC Q8NEA9; P02545: LMNA; NbExp=3; IntAct=EBI-745707, EBI-351935;
CC Q8NEA9; Q9BRK4: LZTS2; NbExp=3; IntAct=EBI-745707, EBI-741037;
CC Q8NEA9; P50222: MEOX2; NbExp=3; IntAct=EBI-745707, EBI-748397;
CC Q8NEA9; Q6PI26: SHQ1; NbExp=3; IntAct=EBI-745707, EBI-2515568;
CC Q8NEA9; Q7Z699: SPRED1; NbExp=3; IntAct=EBI-745707, EBI-5235340;
CC Q8NEA9; Q13077: TRAF1; NbExp=3; IntAct=EBI-745707, EBI-359224;
CC Q8NEA9; P36406: TRIM23; NbExp=3; IntAct=EBI-745707, EBI-740098;
CC Q8NEA9; Q86WV8: TSC1; NbExp=3; IntAct=EBI-745707, EBI-12806590;
CC Q8NEA9; Q7KZS0: UBE2I; NbExp=3; IntAct=EBI-745707, EBI-10180829;
CC Q8NEA9; Q8N6Y0: USHBP1; NbExp=3; IntAct=EBI-745707, EBI-739895;
CC Q8NEA9; Q96GT9: XAGE2; NbExp=3; IntAct=EBI-745707, EBI-750167;
CC -!- SUBCELLULAR LOCATION: Nucleus matrix {ECO:0000250|UniProtKB:Q920G9}.
CC -!- TISSUE SPECIFICITY: Expressed predominantly in testis.
CC {ECO:0000269|PubMed:16201836}.
CC -!- MISCELLANEOUS: According to some authors, GMCL2 is a GMCL retrogene on
CC chromosome 5 which is likely to be functional.
CC {ECO:0000305|PubMed:16201836}.
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DR EMBL; AK315701; BAG38063.1; -; mRNA.
DR EMBL; AC136632; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; BC024184; -; NOT_ANNOTATED_CDS; mRNA.
DR EMBL; BC024185; -; NOT_ANNOTATED_CDS; mRNA.
DR EMBL; BC033886; -; NOT_ANNOTATED_CDS; mRNA.
DR EMBL; DQ120624; ABB92410.1; -; Genomic_DNA.
DR AlphaFoldDB; Q8NEA9; -.
DR SMR; Q8NEA9; -.
DR IntAct; Q8NEA9; 28.
DR iPTMnet; Q8NEA9; -.
DR PhosphoSitePlus; Q8NEA9; -.
DR BioMuta; HGNC:19717; -.
DR DMDM; 47605713; -.
DR MassIVE; Q8NEA9; -.
DR PeptideAtlas; Q8NEA9; -.
DR PRIDE; Q8NEA9; -.
DR ProteomicsDB; 73142; -.
DR Antibodypedia; 79002; 28 antibodies from 7 providers.
DR Ensembl; ENST00000463439.3; ENSP00000497178.1; ENSG00000244234.3.
DR MANE-Select; ENST00000463439.3; ENSP00000497178.1; NM_001358008.2; NP_001344937.1.
DR GeneCards; GMCL2; -.
DR HGNC; HGNC:19717; GMCL2.
DR HPA; ENSG00000244234; Tissue enriched (testis).
DR MIM; 618629; gene.
DR neXtProt; NX_Q8NEA9; -.
DR VEuPathDB; HostDB:ENSG00000244234; -.
DR GeneTree; ENSGT00940000156185; -.
DR InParanoid; Q8NEA9; -.
DR OMA; FPLHVIF; -.
DR PhylomeDB; Q8NEA9; -.
DR PathwayCommons; Q8NEA9; -.
DR SignaLink; Q8NEA9; -.
DR UniPathway; UPA00143; -.
DR Pharos; Q8NEA9; Tdark.
DR PRO; PR:Q8NEA9; -.
DR Proteomes; UP000005640; Chromosome 5.
DR RNAct; Q8NEA9; protein.
DR Bgee; ENSG00000244234; Expressed in testis and 8 other tissues.
DR GO; GO:0016363; C:nuclear matrix; IEA:UniProtKB-SubCell.
DR GO; GO:0005634; C:nucleus; IBA:GO_Central.
DR GO; GO:0097602; F:cullin family protein binding; IPI:UniProtKB.
DR GO; GO:0007281; P:germ cell development; IEA:InterPro.
DR GO; GO:0016567; P:protein ubiquitination; IEA:UniProtKB-UniPathway.
DR GO; GO:0007283; P:spermatogenesis; IEA:UniProtKB-KW.
DR Gene3D; 3.30.710.10; -; 1.
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; PF00651; BTB; 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; Reference proteome;
KW Spermatogenesis; Ubl conjugation pathway.
FT CHAIN 1..526
FT /note="Germ cell-less protein-like 2"
FT /id="PRO_0000087523"
FT DOMAIN 108..178
FT /note="BTB"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00037"
FT REGION 1..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 COMPBIAS 56..78
FT /note="Basic and acidic residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT VARIANT 275
FT /note="V -> A (in a colorectal cancer sample; somatic
FT mutation)"
FT /evidence="ECO:0000269|PubMed:16959974"
FT /id="VAR_035924"
FT CONFLICT 40
FT /note="S -> G (in Ref. 4; ABB92410)"
FT /evidence="ECO:0000305"
FT CONFLICT 47
FT /note="P -> Q (in Ref. 3; BC024184)"
FT /evidence="ECO:0000305"
FT CONFLICT 230
FT /note="K -> E (in Ref. 3; BC024184/BC024185)"
FT /evidence="ECO:0000305"
FT CONFLICT 378
FT /note="R -> H (in Ref. 1; BAG38063 and 3; BC024184/
FT BC024185/BC033886)"
FT CONFLICT 393
FT /note="N -> S (in Ref. 1; BAG38063, 3; BC024184/BC024185/
FT BC033886 and 4; ABB92410)"
FT CONFLICT 440
FT /note="R -> C (in Ref. 1; BAG38063, 3; BC024184/BC024185/
FT BC033886 and 4; ABB92410)"
FT CONFLICT 523
FT /note="N -> D (in Ref. 1; BAG38063 and 3; BC024184/
FT BC024185/BC033886)"
SQ SEQUENCE 526 AA; 60299 MW; 76492B306D4E4839 CRC64;
MGSSSSRVLG QPRRALAQQE QGARARGSAR RPDTGDDAAS YGFCYCPGSH KRKRSSGACR
YCDPDSHREE HEEEGDKQQP LLNTPARKKL RSTSKYIYQT LFLNGENSDI KICALGEEWR
LHKIYLCQSG YFSSMFSGSW KESSMNIIEL EIPDQNIDVD ALQVAFGSLY RDDVLIKPSR
VVAILAAACM LQLDGLIQQC GETMKETINV KTVCGYYTSV EIYGLDSVKK KCLEWLLNNL
MTHQNVKLFK ELGINVMKQL IGSSNLFVMQ VEMDVYTTLK KWMFLQLVPS WNGSLKQLLT
ETDVWFSKQR KDFEGMAFLE TEPGKPFVSV FRHLRLQYII SDLASARIIE QDGIVPSEWL
SSVYKQQWFA MLRAEQDREV GPQEINKEDL EGNSMRCGRK LAKDGEYYWC WTGFNFGFDL
LVIYTNGYII FKRNTLNQPR SGSVSLRPRR SIAFRLRLAS FDSSGKLVCS RTTGYQILIL
KKDQEQVVMN LDSRFLTFPL YICCNFLYIS PEKGIENNRH PENPEN
