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 24-JAN-2024, entry version 154. 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}; GN 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}. 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; 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 CCDS; CCDS4433.1; -. DR AlphaFoldDB; Q8NEA9; -. DR SMR; Q8NEA9; -. DR IntAct; Q8NEA9; 28. DR STRING; 9606.ENSP00000497178; -. DR iPTMnet; Q8NEA9; -. DR PhosphoSitePlus; Q8NEA9; -. DR BioMuta; HGNC:19717; -. DR DMDM; 47605713; -. DR MassIVE; Q8NEA9; -. DR PeptideAtlas; Q8NEA9; -. DR ProteomicsDB; 73142; -. DR Antibodypedia; 79002; 32 antibodies from 9 providers. DR Ensembl; ENST00000463439.3; ENSP00000497178.1; ENSG00000244234.3. DR MANE-Select; ENST00000463439.3; ENSP00000497178.1; NM_001358008.2; NP_001344937.1. DR AGR; HGNC:19717; -. 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 OrthoDB; 2877181at2759; -. 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 male germ line stem cell (sensu Vertebrata) in testis and 8 other cell types or 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 CDD; cd18495; BACK_GCL; 1. DR CDD; cd18305; BTB_POZ_GCL; 1. DR InterPro; IPR000210; BTB/POZ_dom. DR InterPro; IPR043380; Gcl-like. DR InterPro; IPR011333; SKP1/BTB/POZ_sf. DR PANTHER; PTHR23231; GERM CELL-LESS PROTEIN; 1. DR PANTHER; PTHR23231:SF18; GERM CELL-LESS PROTEIN-LIKE 2; 1. DR Pfam; PF00651; BTB; 1. DR SMART; SM00225; BTB; 1. DR SUPFAM; SSF54695; POZ domain; 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; FT BC024184/BC024185/BC033886)" FT CONFLICT 393 FT /note="N -> S (in Ref. 1; BAG38063, 3; FT BC024184/BC024185/BC033886 and 4; ABB92410)" FT CONFLICT 440 FT /note="R -> C (in Ref. 1; BAG38063, 3; FT BC024184/BC024185/BC033886 and 4; ABB92410)" FT CONFLICT 523 FT /note="N -> D (in Ref. 1; BAG38063 and 3; FT BC024184/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 //