CB076_HUMAN
ID CB076_HUMAN Reviewed; 126 AA.
AC Q3KRA6; B7ZLS8; Q4VC35;
DT 18-MAR-2008, integrated into UniProtKB/Swiss-Prot.
DT 30-NOV-2010, sequence version 3.
DT 03-AUG-2022, entry version 105.
DE RecName: Full=UPF0538 protein C2orf76;
GN Name=C2orf76;
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 GENOMIC DNA].
RX PubMed=15815621; DOI=10.1038/nature03466;
RA Hillier L.W., Graves T.A., Fulton R.S., Fulton L.A., Pepin K.H., Minx P.,
RA Wagner-McPherson C., Layman D., Wylie K., Sekhon M., Becker M.C.,
RA Fewell G.A., Delehaunty K.D., Miner T.L., Nash W.E., Kremitzki C., Oddy L.,
RA Du H., Sun H., Bradshaw-Cordum H., Ali J., Carter J., Cordes M., Harris A.,
RA Isak A., van Brunt A., Nguyen C., Du F., Courtney L., Kalicki J.,
RA Ozersky P., Abbott S., Armstrong J., Belter E.A., Caruso L., Cedroni M.,
RA Cotton M., Davidson T., Desai A., Elliott G., Erb T., Fronick C., Gaige T.,
RA Haakenson W., Haglund K., Holmes A., Harkins R., Kim K., Kruchowski S.S.,
RA Strong C.M., Grewal N., Goyea E., Hou S., Levy A., Martinka S., Mead K.,
RA McLellan M.D., Meyer R., Randall-Maher J., Tomlinson C.,
RA Dauphin-Kohlberg S., Kozlowicz-Reilly A., Shah N., Swearengen-Shahid S.,
RA Snider J., Strong J.T., Thompson J., Yoakum M., Leonard S., Pearman C.,
RA Trani L., Radionenko M., Waligorski J.E., Wang C., Rock S.M.,
RA Tin-Wollam A.-M., Maupin R., Latreille P., Wendl M.C., Yang S.-P., Pohl C.,
RA Wallis J.W., Spieth J., Bieri T.A., Berkowicz N., Nelson J.O., Osborne J.,
RA Ding L., Meyer R., Sabo A., Shotland Y., Sinha P., Wohldmann P.E.,
RA Cook L.L., Hickenbotham M.T., Eldred J., Williams D., Jones T.A., She X.,
RA Ciccarelli F.D., Izaurralde E., Taylor J., Schmutz J., Myers R.M.,
RA Cox D.R., Huang X., McPherson J.D., Mardis E.R., Clifton S.W., Warren W.C.,
RA Chinwalla A.T., Eddy S.R., Marra M.A., Ovcharenko I., Furey T.S.,
RA Miller W., Eichler E.E., Bork P., Suyama M., Torrents D., Waterston R.H.,
RA Wilson R.K.;
RT "Generation and annotation of the DNA sequences of human chromosomes 2 and
RT 4.";
RL Nature 434:724-731(2005).
RN [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA], AND VARIANTS VAL-46 AND
RP ARG-116.
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 [3]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA], AND VARIANTS VAL-46 AND ARG-116.
RC TISSUE=Colon, and 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 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 [5]
RP IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
RX PubMed=22814378; DOI=10.1073/pnas.1210303109;
RA Van Damme P., Lasa M., Polevoda B., Gazquez C., Elosegui-Artola A.,
RA Kim D.S., De Juan-Pardo E., Demeyer K., Hole K., Larrea E., Timmerman E.,
RA Prieto J., Arnesen T., Sherman F., Gevaert K., Aldabe R.;
RT "N-terminal acetylome analyses and functional insights of the N-terminal
RT acetyltransferase NatB.";
RL Proc. Natl. Acad. Sci. U.S.A. 109:12449-12454(2012).
CC -!- INTERACTION:
CC Q3KRA6; Q6FHY5: MEOX2; NbExp=3; IntAct=EBI-12161461, EBI-16439278;
CC -!- SIMILARITY: Belongs to the UPF0538 family. {ECO:0000305}.
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DR EMBL; AC016736; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; CH471103; EAW95213.1; -; Genomic_DNA.
DR EMBL; BC047365; AAH47365.1; -; mRNA.
DR EMBL; BC105805; AAI05806.1; -; mRNA.
DR EMBL; BC126395; AAI26396.1; -; mRNA.
DR EMBL; BC126397; AAI26398.1; -; mRNA.
DR EMBL; BC144012; AAI44013.1; -; mRNA.
DR EMBL; BC171737; AAI71737.1; -; mRNA.
DR CCDS; CCDS42739.1; -.
DR RefSeq; NP_001017927.2; NM_001017927.3.
DR RefSeq; NP_001309258.1; NM_001322329.1.
DR RefSeq; NP_001309259.1; NM_001322330.1.
DR RefSeq; NP_001309260.1; NM_001322331.1.
DR AlphaFoldDB; Q3KRA6; -.
DR BioGRID; 126230; 2.
DR IntAct; Q3KRA6; 1.
DR STRING; 9606.ENSP00000386302; -.
DR iPTMnet; Q3KRA6; -.
DR PhosphoSitePlus; Q3KRA6; -.
DR BioMuta; C2orf76; -.
DR DMDM; 313104243; -.
DR EPD; Q3KRA6; -.
DR jPOST; Q3KRA6; -.
DR MassIVE; Q3KRA6; -.
DR MaxQB; Q3KRA6; -.
DR PaxDb; Q3KRA6; -.
DR PeptideAtlas; Q3KRA6; -.
DR PRIDE; Q3KRA6; -.
DR ProteomicsDB; 61740; -.
DR Antibodypedia; 47996; 64 antibodies from 12 providers.
DR DNASU; 130355; -.
DR Ensembl; ENST00000334816.12; ENSP00000335041.7; ENSG00000186132.15.
DR Ensembl; ENST00000409466.6; ENSP00000386302.2; ENSG00000186132.15.
DR Ensembl; ENST00000409523.1; ENSP00000386714.1; ENSG00000186132.15.
DR Ensembl; ENST00000409877.5; ENSP00000387234.1; ENSG00000186132.15.
DR GeneID; 130355; -.
DR KEGG; hsa:130355; -.
DR MANE-Select; ENST00000334816.12; ENSP00000335041.7; NM_001322331.2; NP_001309260.1.
DR UCSC; uc002tls.2; human.
DR CTD; 130355; -.
DR DisGeNET; 130355; -.
DR GeneCards; C2orf76; -.
DR HGNC; HGNC:27017; C2orf76.
DR HPA; ENSG00000186132; Low tissue specificity.
DR neXtProt; NX_Q3KRA6; -.
DR OpenTargets; ENSG00000186132; -.
DR PharmGKB; PA162379558; -.
DR VEuPathDB; HostDB:ENSG00000186132; -.
DR eggNOG; KOG4147; Eukaryota.
DR GeneTree; ENSGT00390000015352; -.
DR HOGENOM; CLU_117792_1_0_1; -.
DR InParanoid; Q3KRA6; -.
DR OMA; YRNVKNH; -.
DR OrthoDB; 1568647at2759; -.
DR PhylomeDB; Q3KRA6; -.
DR TreeFam; TF300221; -.
DR PathwayCommons; Q3KRA6; -.
DR SignaLink; Q3KRA6; -.
DR BioGRID-ORCS; 130355; 47 hits in 1019 CRISPR screens.
DR ChiTaRS; C2orf76; human.
DR GenomeRNAi; 130355; -.
DR Pharos; Q3KRA6; Tdark.
DR PRO; PR:Q3KRA6; -.
DR Proteomes; UP000005640; Chromosome 2.
DR RNAct; Q3KRA6; protein.
DR Bgee; ENSG00000186132; Expressed in islet of Langerhans and 167 other tissues.
DR ExpressionAtlas; Q3KRA6; baseline and differential.
DR Genevisible; Q3KRA6; HS.
DR InterPro; IPR018794; UPF0538.
DR PANTHER; PTHR18444; PTHR18444; 1.
DR Pfam; PF10209; DUF2340; 1.
PE 1: Evidence at protein level;
KW Reference proteome.
FT CHAIN 1..126
FT /note="UPF0538 protein C2orf76"
FT /id="PRO_0000325824"
FT VARIANT 46
FT /note="I -> V (in dbSNP:rs1132267)"
FT /evidence="ECO:0000269|PubMed:15489334, ECO:0000269|Ref.2"
FT /id="VAR_039931"
FT VARIANT 116
FT /note="K -> R (in dbSNP:rs1052500)"
FT /evidence="ECO:0000269|PubMed:15489334, ECO:0000269|Ref.2"
FT /id="VAR_039932"
SQ SEQUENCE 126 AA; 14609 MW; 07E53B7EA8DD364A CRC64;
MAPGEVTITV RLIRSFEHRN FKPVVYHGVN LDQTVKEFIV FLKQDIPLRT NLPPPFRNYK
YDALKIIHQA HKSKTNELVL SLEDDERLLL KEDSTLKAAG IASETEIAFF CEEDYKNYKA
NPISSW
