CO040_HUMAN
ID CO040_HUMAN Reviewed; 153 AA.
AC Q8WUR7; A6NIC9; B2R5E7; F5GX92; F8WD31; G5EA00;
DT 11-APR-2003, integrated into UniProtKB/Swiss-Prot.
DT 29-MAY-2013, sequence version 2.
DT 03-AUG-2022, entry version 135.
DE RecName: Full=UPF0235 protein C15orf40;
GN Name=C15orf40;
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).
RC TISSUE=Subthalamic nucleus;
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=16572171; DOI=10.1038/nature04601;
RA Zody M.C., Garber M., Sharpe T., Young S.K., Rowen L., O'Neill K.,
RA Whittaker C.A., Kamal M., Chang J.L., Cuomo C.A., Dewar K.,
RA FitzGerald M.G., Kodira C.D., Madan A., Qin S., Yang X., Abbasi N.,
RA Abouelleil A., Arachchi H.M., Baradarani L., Birditt B., Bloom S.,
RA Bloom T., Borowsky M.L., Burke J., Butler J., Cook A., DeArellano K.,
RA DeCaprio D., Dorris L. III, Dors M., Eichler E.E., Engels R., Fahey J.,
RA Fleetwood P., Friedman C., Gearin G., Hall J.L., Hensley G., Johnson E.,
RA Jones C., Kamat A., Kaur A., Locke D.P., Madan A., Munson G., Jaffe D.B.,
RA Lui A., Macdonald P., Mauceli E., Naylor J.W., Nesbitt R., Nicol R.,
RA O'Leary S.B., Ratcliffe A., Rounsley S., She X., Sneddon K.M.B.,
RA Stewart S., Sougnez C., Stone S.M., Topham K., Vincent D., Wang S.,
RA Zimmer A.R., Birren B.W., Hood L., Lander E.S., Nusbaum C.;
RT "Analysis of the DNA sequence and duplication history of human chromosome
RT 15.";
RL Nature 440:671-675(2006).
RN [3]
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 (JUL-2005) to the EMBL/GenBank/DDBJ databases.
RN [4]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
RC TISSUE=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 [5]
RP IDENTIFICATION BY 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 [6]
RP IDENTIFICATION BY 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 [7]
RP PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-116, AND IDENTIFICATION BY
RP 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).
RN [8]
RP VARIANT THR-89.
RX PubMed=23033978; DOI=10.1056/nejmoa1206524;
RA de Ligt J., Willemsen M.H., van Bon B.W., Kleefstra T., Yntema H.G.,
RA Kroes T., Vulto-van Silfhout A.T., Koolen D.A., de Vries P., Gilissen C.,
RA del Rosario M., Hoischen A., Scheffer H., de Vries B.B., Brunner H.G.,
RA Veltman J.A., Vissers L.E.;
RT "Diagnostic exome sequencing in persons with severe intellectual
RT disability.";
RL N. Engl. J. Med. 367:1921-1929(2012).
CC -!- ALTERNATIVE PRODUCTS:
CC Event=Alternative splicing; Named isoforms=3;
CC Name=1;
CC IsoId=Q8WUR7-1; Sequence=Displayed;
CC Name=2;
CC IsoId=Q8WUR7-2; Sequence=VSP_046500;
CC Name=3;
CC IsoId=Q8WUR7-3; Sequence=VSP_046501;
CC -!- SIMILARITY: Belongs to the UPF0235 family. {ECO:0000305}.
CC -!- CAUTION: It is uncertain whether Met-1 or Met-28 is the initiator. Some
CC orthologous sequences cannot be extended. {ECO:0000305}.
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DR EMBL; AK312160; BAG35094.1; -; mRNA.
DR EMBL; AC022558; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; CH471188; EAW62431.1; -; Genomic_DNA.
DR EMBL; BC019820; AAH19820.1; -; mRNA.
DR CCDS; CCDS32312.2; -. [Q8WUR7-1]
DR CCDS; CCDS53968.1; -. [Q8WUR7-2]
DR CCDS; CCDS53969.1; -. [Q8WUR7-3]
DR RefSeq; NP_001153587.1; NM_001160115.1. [Q8WUR7-3]
DR RefSeq; NP_001153588.1; NM_001160116.1. [Q8WUR7-2]
DR RefSeq; NP_653198.2; NM_144597.2. [Q8WUR7-1]
DR AlphaFoldDB; Q8WUR7; -.
DR SMR; Q8WUR7; -.
DR BioGRID; 125818; 8.
DR IntAct; Q8WUR7; 1.
DR STRING; 9606.ENSP00000403987; -.
DR GlyGen; Q8WUR7; 1 site, 1 O-linked glycan (1 site).
DR iPTMnet; Q8WUR7; -.
DR PhosphoSitePlus; Q8WUR7; -.
DR BioMuta; C15orf40; -.
DR DMDM; 510120802; -.
DR EPD; Q8WUR7; -.
DR jPOST; Q8WUR7; -.
DR MassIVE; Q8WUR7; -.
DR MaxQB; Q8WUR7; -.
DR PeptideAtlas; Q8WUR7; -.
DR PRIDE; Q8WUR7; -.
DR ProteomicsDB; 24351; -.
DR ProteomicsDB; 31358; -.
DR ProteomicsDB; 34098; -.
DR ProteomicsDB; 74703; -. [Q8WUR7-1]
DR Antibodypedia; 49874; 172 antibodies from 18 providers.
DR DNASU; 123207; -.
DR Ensembl; ENST00000304177.10; ENSP00000307071.6; ENSG00000169609.14. [Q8WUR7-1]
DR Ensembl; ENST00000451195.7; ENSP00000403987.3; ENSG00000169609.14. [Q8WUR7-3]
DR Ensembl; ENST00000538348.6; ENSP00000441077.2; ENSG00000169609.14. [Q8WUR7-2]
DR GeneID; 123207; -.
DR KEGG; hsa:123207; -.
DR MANE-Select; ENST00000304177.10; ENSP00000307071.6; NM_144597.3; NP_653198.2.
DR UCSC; uc002bjm.4; human. [Q8WUR7-1]
DR CTD; 123207; -.
DR GeneCards; C15orf40; -.
DR HGNC; HGNC:28443; C15orf40.
DR HPA; ENSG00000169609; Low tissue specificity.
DR neXtProt; NX_Q8WUR7; -.
DR OpenTargets; ENSG00000169609; -.
DR PharmGKB; PA142672276; -.
DR VEuPathDB; HostDB:ENSG00000169609; -.
DR eggNOG; KOG3276; Eukaryota.
DR GeneTree; ENSGT00390000012420; -.
DR HOGENOM; CLU_1739852_0_0_1; -.
DR InParanoid; Q8WUR7; -.
DR OMA; PGAKQNG; -.
DR OrthoDB; 1546648at2759; -.
DR TreeFam; TF313882; -.
DR PathwayCommons; Q8WUR7; -.
DR SignaLink; Q8WUR7; -.
DR BioGRID-ORCS; 123207; 11 hits in 1049 CRISPR screens.
DR ChiTaRS; C15orf40; human.
DR GenomeRNAi; 123207; -.
DR Pharos; Q8WUR7; Tdark.
DR PRO; PR:Q8WUR7; -.
DR Proteomes; UP000005640; Chromosome 15.
DR RNAct; Q8WUR7; protein.
DR Bgee; ENSG00000169609; Expressed in olfactory segment of nasal mucosa and 167 other tissues.
DR ExpressionAtlas; Q8WUR7; baseline and differential.
DR Genevisible; Q8WUR7; HS.
DR GO; GO:0005737; C:cytoplasm; IBA:GO_Central.
DR Gene3D; 3.30.1200.10; -; 1.
DR HAMAP; MF_00634; UPF0235; 1.
DR InterPro; IPR003746; DUF167.
DR InterPro; IPR036591; YggU-like_sf.
DR PANTHER; PTHR13420; PTHR13420; 1.
DR Pfam; PF02594; DUF167; 1.
DR SMART; SM01152; DUF167; 1.
DR SUPFAM; SSF69786; SSF69786; 1.
PE 1: Evidence at protein level;
KW Alternative splicing; Phosphoprotein; Reference proteome.
FT CHAIN 1..153
FT /note="UPF0235 protein C15orf40"
FT /id="PRO_0000139475"
FT REGION 1..55
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT MOD_RES 116
FT /note="Phosphoserine"
FT /evidence="ECO:0007744|PubMed:23186163"
FT VAR_SEQ 123..153
FT /note="GGKSREKVVKLLASTTPEEILEKLKKEAKKT -> LCYSIPQQLEETQEGVS
FT GIPDTPCHFL (in isoform 2)"
FT /evidence="ECO:0000305"
FT /id="VSP_046500"
FT VAR_SEQ 123..153
FT /note="GGKSREKVVKLLASTTPEEILEKLKKEAKKT -> TGSCYIAQAGLELLASS
FT DLPASASQSAGITGVSHHTQPALLLISL (in isoform 3)"
FT /evidence="ECO:0000305"
FT /id="VSP_046501"
FT VARIANT 89
FT /note="A -> T (in dbSNP:rs376937425)"
FT /evidence="ECO:0000269|PubMed:23033978"
FT /id="VAR_069397"
SQ SEQUENCE 153 AA; 16353 MW; C1770CE79758A41A CRC64;
MLRLRSGLRH LRATPNTRGS ARLLCAEMPK KAGATTKGKS QSKEPERPLP PLGPVAVDPK
GCVTIAIHAK PGSKQNAVTD LTAEAVNVAI AAPPSEGEAN AELCRYLSKV LELRKSDVVL
DKGGKSREKV VKLLASTTPE EILEKLKKEA KKT
