CA050_HUMAN
ID CA050_HUMAN Reviewed; 199 AA.
AC Q9BV19;
DT 03-OCT-2006, integrated into UniProtKB/Swiss-Prot.
DT 10-FEB-2009, sequence version 2.
DT 03-AUG-2022, entry version 135.
DE RecName: Full=Uncharacterized protein C1orf50;
GN Name=C1orf50;
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=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 [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA], AND VARIANT MET-178.
RC TISSUE=Lymph;
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).
CC -!- INTERACTION:
CC Q9BV19; Q8NFM4: ADCY4; NbExp=3; IntAct=EBI-2874661, EBI-2838710;
CC Q9BV19; P23526: AHCY; NbExp=12; IntAct=EBI-2874661, EBI-1053240;
CC Q9BV19; Q92624: APPBP2; NbExp=6; IntAct=EBI-2874661, EBI-743771;
CC Q9BV19; Q9BV19: C1orf50; NbExp=4; IntAct=EBI-2874661, EBI-2874661;
CC Q9BV19; O43186: CRX; NbExp=3; IntAct=EBI-2874661, EBI-748171;
CC Q9BV19; Q08426: EHHADH; NbExp=3; IntAct=EBI-2874661, EBI-2339219;
CC Q9BV19; Q14232: EIF2B1; NbExp=3; IntAct=EBI-2874661, EBI-491065;
CC Q9BV19; Q7L775: EPM2AIP1; NbExp=3; IntAct=EBI-2874661, EBI-6255981;
CC Q9BV19; Q0VD86: INCA1; NbExp=3; IntAct=EBI-2874661, EBI-6509505;
CC Q9BV19; Q9P2M1: LRP2BP; NbExp=3; IntAct=EBI-2874661, EBI-18273118;
CC Q9BV19; P50221: MEOX1; NbExp=3; IntAct=EBI-2874661, EBI-2864512;
CC Q9BV19; Q6FHY5: MEOX2; NbExp=3; IntAct=EBI-2874661, EBI-16439278;
CC Q9BV19; Q96HA8: NTAQ1; NbExp=6; IntAct=EBI-2874661, EBI-741158;
CC Q9BV19; Q04864-2: REL; NbExp=3; IntAct=EBI-2874661, EBI-10829018;
CC Q9BV19; P15884-3: TCF4; NbExp=3; IntAct=EBI-2874661, EBI-13636688;
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DR EMBL; AC098484; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; BC001508; AAH01508.1; -; mRNA.
DR EMBL; BC001711; AAH01711.1; -; mRNA.
DR CCDS; CCDS473.1; -.
DR RefSeq; NP_077002.2; NM_024097.3.
DR AlphaFoldDB; Q9BV19; -.
DR BioGRID; 122528; 20.
DR IntAct; Q9BV19; 18.
DR MINT; Q9BV19; -.
DR STRING; 9606.ENSP00000361603; -.
DR GlyGen; Q9BV19; 1 site, 1 O-linked glycan (1 site).
DR iPTMnet; Q9BV19; -.
DR PhosphoSitePlus; Q9BV19; -.
DR BioMuta; C1orf50; -.
DR DMDM; 223590163; -.
DR EPD; Q9BV19; -.
DR jPOST; Q9BV19; -.
DR MassIVE; Q9BV19; -.
DR MaxQB; Q9BV19; -.
DR PaxDb; Q9BV19; -.
DR PeptideAtlas; Q9BV19; -.
DR PRIDE; Q9BV19; -.
DR ProteomicsDB; 79151; -.
DR Antibodypedia; 32249; 181 antibodies from 20 providers.
DR DNASU; 79078; -.
DR Ensembl; ENST00000372525.7; ENSP00000361603.4; ENSG00000164008.17.
DR GeneID; 79078; -.
DR KEGG; hsa:79078; -.
DR MANE-Select; ENST00000372525.7; ENSP00000361603.4; NM_024097.4; NP_077002.2.
DR UCSC; uc001cia.5; human.
DR CTD; 79078; -.
DR DisGeNET; 79078; -.
DR GeneCards; C1orf50; -.
DR HGNC; HGNC:28795; C1orf50.
DR HPA; ENSG00000164008; Low tissue specificity.
DR neXtProt; NX_Q9BV19; -.
DR PharmGKB; PA134861089; -.
DR VEuPathDB; HostDB:ENSG00000164008; -.
DR eggNOG; ENOG502QWKE; Eukaryota.
DR GeneTree; ENSGT00390000003084; -.
DR HOGENOM; CLU_102988_0_1_1; -.
DR InParanoid; Q9BV19; -.
DR OMA; GCPHDFL; -.
DR OrthoDB; 1483939at2759; -.
DR PhylomeDB; Q9BV19; -.
DR TreeFam; TF105992; -.
DR PathwayCommons; Q9BV19; -.
DR SignaLink; Q9BV19; -.
DR BioGRID-ORCS; 79078; 10 hits in 1060 CRISPR screens.
DR ChiTaRS; C1orf50; human.
DR GenomeRNAi; 79078; -.
DR Pharos; Q9BV19; Tdark.
DR PRO; PR:Q9BV19; -.
DR Proteomes; UP000005640; Chromosome 1.
DR RNAct; Q9BV19; protein.
DR Bgee; ENSG00000164008; Expressed in apex of heart and 104 other tissues.
DR Genevisible; Q9BV19; HS.
DR GO; GO:0042802; F:identical protein binding; IPI:IntAct.
DR InterPro; IPR019534; DUF2452.
DR PANTHER; PTHR14553; PTHR14553; 1.
DR Pfam; PF10504; DUF2452; 1.
PE 1: Evidence at protein level;
KW Coiled coil; Reference proteome.
FT CHAIN 1..199
FT /note="Uncharacterized protein C1orf50"
FT /id="PRO_0000251189"
FT REGION 1..30
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COILED 71..101
FT /evidence="ECO:0000255"
FT VARIANT 178
FT /note="T -> M (in dbSNP:rs11548275)"
FT /evidence="ECO:0000269|PubMed:15489334"
FT /id="VAR_054409"
SQ SEQUENCE 199 AA; 21877 MW; 499A0179C042E39D CRC64;
MEDAAAPGRT EGVLERQGAP PAAGQGGALV ELTPTPGGLA LVSPYHTHRA GDPLDLVALA
EQVQKADEFI RANATNKLTV IAEQIQHLQE QARKVLEDAH RDANLHHVAC NIVKKPGNIY
YLYKRESGQQ YFSIISPKEW GTSCPHDFLG AYKLQHDLSW TPYEDIEKQD AKISMMDTLL
SQSVALPPCT EPNFQGLTH
