CA052_HUMAN
ID CA052_HUMAN Reviewed; 182 AA.
AC Q8N6N3; B3KX89; Q8TDK5; Q8TDK6;
DT 31-OCT-2006, integrated into UniProtKB/Swiss-Prot.
DT 01-OCT-2002, sequence version 1.
DT 03-AUG-2022, entry version 138.
DE RecName: Full=UPF0690 protein C1orf52;
DE AltName: Full=BCL10-associated gene protein;
GN Name=C1orf52; Synonyms=BAG; ORFNames=GM117;
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] (ISOFORMS 2 AND 3), AND TISSUE SPECIFICITY.
RX PubMed=11891061; DOI=10.1016/s0378-1119(01)00897-6;
RA Makalowska I., Sood R., Faruque M.U., Hu P., Robbins C.M., Eddings E.M.,
RA Mestre J.D., Baxevanis A.D., Carpten J.D.;
RT "Identification of six novel genes by experimental validation of
RT GeneMachine predicted genes.";
RL Gene 284:203-213(2002).
RN [2]
RP NUCLEOTIDE SEQUENCE [MRNA] (ISOFORMS 1 AND 3).
RA Achuthan R., Carr I.M., Markham A.F.;
RT "BAG (BCL10-associated gene) a highly conserved gene close to the tumor
RT suppressor gene BCL10.";
RL Submitted (NOV-2003) to the EMBL/GenBank/DDBJ databases.
RN [3]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 3).
RC TISSUE=Brain;
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].
RX PubMed=16710414; DOI=10.1038/nature04727;
RA Gregory S.G., Barlow K.F., McLay K.E., Kaul R., Swarbreck D., Dunham A.,
RA Scott C.E., Howe K.L., Woodfine K., Spencer C.C.A., Jones M.C., Gillson C.,
RA Searle S., Zhou Y., Kokocinski F., McDonald L., Evans R., Phillips K.,
RA Atkinson A., Cooper R., Jones C., Hall R.E., Andrews T.D., Lloyd C.,
RA Ainscough R., Almeida J.P., Ambrose K.D., Anderson F., Andrew R.W.,
RA Ashwell R.I.S., Aubin K., Babbage A.K., Bagguley C.L., Bailey J.,
RA Beasley H., Bethel G., Bird C.P., Bray-Allen S., Brown J.Y., Brown A.J.,
RA Buckley D., Burton J., Bye J., Carder C., Chapman J.C., Clark S.Y.,
RA Clarke G., Clee C., Cobley V., Collier R.E., Corby N., Coville G.J.,
RA Davies J., Deadman R., Dunn M., Earthrowl M., Ellington A.G., Errington H.,
RA Frankish A., Frankland J., French L., Garner P., Garnett J., Gay L.,
RA Ghori M.R.J., Gibson R., Gilby L.M., Gillett W., Glithero R.J.,
RA Grafham D.V., Griffiths C., Griffiths-Jones S., Grocock R., Hammond S.,
RA Harrison E.S.I., Hart E., Haugen E., Heath P.D., Holmes S., Holt K.,
RA Howden P.J., Hunt A.R., Hunt S.E., Hunter G., Isherwood J., James R.,
RA Johnson C., Johnson D., Joy A., Kay M., Kershaw J.K., Kibukawa M.,
RA Kimberley A.M., King A., Knights A.J., Lad H., Laird G., Lawlor S.,
RA Leongamornlert D.A., Lloyd D.M., Loveland J., Lovell J., Lush M.J.,
RA Lyne R., Martin S., Mashreghi-Mohammadi M., Matthews L., Matthews N.S.W.,
RA McLaren S., Milne S., Mistry S., Moore M.J.F., Nickerson T., O'Dell C.N.,
RA Oliver K., Palmeiri A., Palmer S.A., Parker A., Patel D., Pearce A.V.,
RA Peck A.I., Pelan S., Phelps K., Phillimore B.J., Plumb R., Rajan J.,
RA Raymond C., Rouse G., Saenphimmachak C., Sehra H.K., Sheridan E.,
RA Shownkeen R., Sims S., Skuce C.D., Smith M., Steward C., Subramanian S.,
RA Sycamore N., Tracey A., Tromans A., Van Helmond Z., Wall M., Wallis J.M.,
RA White S., Whitehead S.L., Wilkinson J.E., Willey D.L., Williams H.,
RA Wilming L., Wray P.W., Wu Z., Coulson A., Vaudin M., Sulston J.E.,
RA Durbin R.M., Hubbard T., Wooster R., Dunham I., Carter N.P., McVean G.,
RA Ross M.T., Harrow J., Olson M.V., Beck S., Rogers J., Bentley D.R.;
RT "The DNA sequence and biological annotation of human chromosome 1.";
RL Nature 441:315-321(2006).
RN [5]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
RC TISSUE=Brain;
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 PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT TYR-132, AND IDENTIFICATION BY
RP MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
RX PubMed=15592455; DOI=10.1038/nbt1046;
RA Rush J., Moritz A., Lee K.A., Guo A., Goss V.L., Spek E.J., Zhang H.,
RA Zha X.-M., Polakiewicz R.D., Comb M.J.;
RT "Immunoaffinity profiling of tyrosine phosphorylation in cancer cells.";
RL Nat. Biotechnol. 23:94-101(2005).
RN [7]
RP PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-158, AND IDENTIFICATION BY
RP MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
RC TISSUE=Cervix carcinoma;
RX PubMed=17081983; DOI=10.1016/j.cell.2006.09.026;
RA Olsen J.V., Blagoev B., Gnad F., Macek B., Kumar C., Mortensen P., Mann M.;
RT "Global, in vivo, and site-specific phosphorylation dynamics in signaling
RT networks.";
RL Cell 127:635-648(2006).
RN [8]
RP PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-158, AND IDENTIFICATION BY
RP 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 [9]
RP IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
RX PubMed=19413330; DOI=10.1021/ac9004309;
RA Gauci S., Helbig A.O., Slijper M., Krijgsveld J., Heck A.J., Mohammed S.;
RT "Lys-N and trypsin cover complementary parts of the phosphoproteome in a
RT refined SCX-based approach.";
RL Anal. Chem. 81:4493-4501(2009).
RN [10]
RP PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-158, AND IDENTIFICATION BY
RP MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
RC TISSUE=Cervix carcinoma;
RX PubMed=20068231; DOI=10.1126/scisignal.2000475;
RA Olsen J.V., Vermeulen M., Santamaria A., Kumar C., Miller M.L.,
RA Jensen L.J., Gnad F., Cox J., Jensen T.S., Nigg E.A., Brunak S., Mann M.;
RT "Quantitative phosphoproteomics reveals widespread full phosphorylation
RT site occupancy during mitosis.";
RL Sci. Signal. 3:RA3-RA3(2010).
RN [11]
RP IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
RX PubMed=21269460; DOI=10.1186/1752-0509-5-17;
RA Burkard T.R., Planyavsky M., Kaupe I., Breitwieser F.P., Buerckstuemmer T.,
RA Bennett K.L., Superti-Furga G., Colinge J.;
RT "Initial characterization of the human central proteome.";
RL BMC Syst. Biol. 5:17-17(2011).
RN [12]
RP PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-158, AND IDENTIFICATION BY
RP MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
RX PubMed=21406692; DOI=10.1126/scisignal.2001570;
RA Rigbolt K.T., Prokhorova T.A., Akimov V., Henningsen J., Johansen P.T.,
RA Kratchmarova I., Kassem M., Mann M., Olsen J.V., Blagoev B.;
RT "System-wide temporal characterization of the proteome and phosphoproteome
RT of human embryonic stem cell differentiation.";
RL Sci. Signal. 4:RS3-RS3(2011).
RN [13]
RP PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT THR-67 AND SER-158, AND
RP IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
RC TISSUE=Cervix carcinoma, and 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=Q8N6N3-1; Sequence=Displayed;
CC Name=2; Synonyms=GM117 form A;
CC IsoId=Q8N6N3-2; Sequence=VSP_021269, VSP_021270;
CC Name=3; Synonyms=GM117 form B;
CC IsoId=Q8N6N3-3; Sequence=VSP_021267, VSP_021268;
CC -!- TISSUE SPECIFICITY: Expressed in all tissues tested including heart,
CC placenta, liver, skeletal muscle, kidney and pancreas. Weak expression
CC in brain and lung. {ECO:0000269|PubMed:11891061}.
CC -!- SIMILARITY: Belongs to the UPF0690 family. {ECO:0000305}.
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DR EMBL; AF387611; AAL91352.1; -; mRNA.
DR EMBL; AF387612; AAL91353.1; -; mRNA.
DR EMBL; AY486331; AAS57906.1; -; mRNA.
DR EMBL; AY486332; AAS57907.1; -; mRNA.
DR EMBL; AK126929; BAG54401.1; -; mRNA.
DR EMBL; AL590113; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; BC029538; AAH29538.1; -; mRNA.
DR CCDS; CCDS703.1; -. [Q8N6N3-1]
DR RefSeq; NP_932343.1; NM_198077.3. [Q8N6N3-1]
DR AlphaFoldDB; Q8N6N3; -.
DR BioGRID; 127149; 43.
DR IntAct; Q8N6N3; 23.
DR MINT; Q8N6N3; -.
DR STRING; 9606.ENSP00000419417; -.
DR GlyGen; Q8N6N3; 1 site, 1 O-linked glycan (1 site).
DR iPTMnet; Q8N6N3; -.
DR PhosphoSitePlus; Q8N6N3; -.
DR BioMuta; C1orf52; -.
DR EPD; Q8N6N3; -.
DR jPOST; Q8N6N3; -.
DR MassIVE; Q8N6N3; -.
DR MaxQB; Q8N6N3; -.
DR PaxDb; Q8N6N3; -.
DR PeptideAtlas; Q8N6N3; -.
DR PRIDE; Q8N6N3; -.
DR ProteomicsDB; 72204; -. [Q8N6N3-1]
DR ProteomicsDB; 72205; -. [Q8N6N3-2]
DR ProteomicsDB; 72206; -. [Q8N6N3-3]
DR Antibodypedia; 33566; 47 antibodies from 9 providers.
DR DNASU; 148423; -.
DR Ensembl; ENST00000344356.5; ENSP00000345092.5; ENSG00000162642.14. [Q8N6N3-2]
DR Ensembl; ENST00000471115.6; ENSP00000419417.1; ENSG00000162642.14. [Q8N6N3-1]
DR GeneID; 148423; -.
DR KEGG; hsa:148423; -.
DR MANE-Select; ENST00000471115.6; ENSP00000419417.1; NM_198077.4; NP_932343.1.
DR UCSC; uc001dkv.4; human. [Q8N6N3-1]
DR CTD; 148423; -.
DR DisGeNET; 148423; -.
DR GeneCards; C1orf52; -.
DR HGNC; HGNC:24871; C1orf52.
DR HPA; ENSG00000162642; Low tissue specificity.
DR neXtProt; NX_Q8N6N3; -.
DR OpenTargets; ENSG00000162642; -.
DR PharmGKB; PA142672503; -.
DR VEuPathDB; HostDB:ENSG00000162642; -.
DR eggNOG; ENOG502QVJV; Eukaryota.
DR GeneTree; ENSGT00390000017398; -.
DR HOGENOM; CLU_127170_0_0_1; -.
DR InParanoid; Q8N6N3; -.
DR OMA; EDAPQPY; -.
DR OrthoDB; 1478094at2759; -.
DR PhylomeDB; Q8N6N3; -.
DR TreeFam; TF333299; -.
DR PathwayCommons; Q8N6N3; -.
DR SignaLink; Q8N6N3; -.
DR BioGRID-ORCS; 148423; 27 hits in 1046 CRISPR screens.
DR GenomeRNAi; 148423; -.
DR Pharos; Q8N6N3; Tdark.
DR PRO; PR:Q8N6N3; -.
DR Proteomes; UP000005640; Chromosome 1.
DR RNAct; Q8N6N3; protein.
DR Bgee; ENSG00000162642; Expressed in upper arm skin and 188 other tissues.
DR Genevisible; Q8N6N3; HS.
DR GO; GO:0005654; C:nucleoplasm; IDA:HPA.
DR GO; GO:0003723; F:RNA binding; HDA:UniProtKB.
DR InterPro; IPR029089; DUF4660.
DR Pfam; PF15559; DUF4660; 1.
PE 1: Evidence at protein level;
KW Alternative splicing; Phosphoprotein; Reference proteome.
FT CHAIN 1..182
FT /note="UPF0690 protein C1orf52"
FT /id="PRO_0000254630"
FT REGION 1..67
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 100..182
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 47..61
FT /note="Basic and acidic residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 161..182
FT /note="Basic and acidic residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT MOD_RES 67
FT /note="Phosphothreonine"
FT /evidence="ECO:0007744|PubMed:23186163"
FT MOD_RES 132
FT /note="Phosphotyrosine"
FT /evidence="ECO:0007744|PubMed:15592455"
FT MOD_RES 158
FT /note="Phosphoserine"
FT /evidence="ECO:0007744|PubMed:17081983,
FT ECO:0007744|PubMed:18669648, ECO:0007744|PubMed:20068231,
FT ECO:0007744|PubMed:21406692, ECO:0007744|PubMed:23186163"
FT VAR_SEQ 93..100
FT /note="PPKEFKIW -> LLPETPSL (in isoform 3)"
FT /evidence="ECO:0000303|PubMed:11891061,
FT ECO:0000303|PubMed:14702039, ECO:0000303|Ref.2"
FT /id="VSP_021267"
FT VAR_SEQ 101..182
FT /note="Missing (in isoform 3)"
FT /evidence="ECO:0000303|PubMed:11891061,
FT ECO:0000303|PubMed:14702039, ECO:0000303|Ref.2"
FT /id="VSP_021268"
FT VAR_SEQ 159..167
FT /note="DDEKDEHTS -> ALEDLEIQN (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:11891061"
FT /id="VSP_021269"
FT VAR_SEQ 168..182
FT /note="Missing (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:11891061"
FT /id="VSP_021270"
SQ SEQUENCE 182 AA; 20599 MW; 77CFC1D3300C9329 CRC64;
MAAEEKDPLS YFAAYGSSSS GSSDEEDNIE PEETSRRTPD PAKSAGGCRN KAEKRLPGPD
ELFRSVTRPA FLYNPLNKQI DWERHVVKAP EEPPKEFKIW KSNYVPPPET YTTEKKPPPP
ELDMAIKWSN IYEDNGDDAP QNAKKARLLP EGEETLESDD EKDEHTSKKR KVEPGEPAKK
KK
