ID CRCM_HUMAN Reviewed; 829 AA. AC P23508; DT 01-NOV-1991, integrated into UniProtKB/Swiss-Prot. DT 01-NOV-1991, sequence version 1. DT 25-NOV-2008, entry version 68. DE RecName: Full=Colorectal mutant cancer protein; DE Short=Protein MCC; GN Name=MCC; OS Homo sapiens (Human). OC Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; OC Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; OC Catarrhini; Hominidae; Homo. OX NCBI_TaxID=9606; RN [1] RP NUCLEOTIDE SEQUENCE [MRNA]. RC TISSUE=Brain; RX MEDLINE=91164855; PubMed=1848370; RA Kinzler K.W., Nilbert M.C., Vogelstein B., Bryan T.M., Levy D.B., RA Smith K.J., Preisinger A.C., Hamilton S.R., Hedge P., Markham A., RA Carlson M., Joslyn G., Groden J., White R., Miki Y., Miyoshi Y., RA Nishisho I., Nakamura Y.; RT "Identification of a gene located at chromosome 5q21 that is mutated RT in colorectal cancers."; RL Science 251:1366-1370(1991). RN [2] RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA]. RC TISSUE=Muscle; 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 RT project: the Mammalian Gene Collection (MGC)."; RL Genome Res. 14:2121-2127(2004). RN [3] RP VARIANTS COLORECTAL CANCER LEU-267; LEU-486; L-490; GLN-506 AND RP VAL-698. RX MEDLINE=91335211; PubMed=1651563; RA Nishisho I., Nakamura Y., Miyoshi Y., Miki Y., Ando H., Horii A., RA Koyama K., Utsunomiya J., Baba S., Hedge P., Markham A., Krush A.J., RA Petersen G.M., Hamilton S.R., Nilbert M.C., Levy D.B., Bryan T.M., RA Preisinger A.C., Smith K.J., Su L.-K., Kinzler K.W., Vogelstein B.; RT "Mutations of chromosome 5q21 genes in FAP and colorectal cancer RT patients."; RL Science 253:665-669(1991). CC -!- FUNCTION: Candidate for the putative colorectal tumor suppressor CC gene located at 5q21. CC -!- INTERACTION: CC O75643:ASCC3L1; NbExp=1; IntAct=EBI-307531, EBI-1045395; CC P16152:CBR1; NbExp=1; IntAct=EBI-307531, EBI-351348; CC P78396:CCNA1; NbExp=1; IntAct=EBI-307531, EBI-375065; CC Q00610:CLTC; NbExp=1; IntAct=EBI-307531, EBI-354967; CC P48730:CSNK1D; NbExp=1; IntAct=EBI-307531, EBI-751621; CC P49674:CSNK1E; NbExp=1; IntAct=EBI-307531, EBI-749343; CC O00273:DFFA; NbExp=1; IntAct=EBI-307531, EBI-727171; CC Q14152:EIF3A; NbExp=1; IntAct=EBI-307531, EBI-366617; CC P07814:EPRS; NbExp=1; IntAct=EBI-307531, EBI-355315; CC P15311:EZR; NbExp=1; IntAct=EBI-307531, EBI-1056902; CC P00492:HPRT1; NbExp=1; IntAct=EBI-307531, EBI-748210; CC P05783:KRT18; NbExp=1; IntAct=EBI-307531, EBI-297888; CC P09960:LTA4H; NbExp=1; IntAct=EBI-307531, EBI-721089; CC P56192:MARS; NbExp=1; IntAct=EBI-307531, EBI-355848; CC P11586:MTHFD1; NbExp=1; IntAct=EBI-307531, EBI-709638; CC P35580:MYH10; NbExp=1; IntAct=EBI-307531, EBI-351758; CC Q15653:NFKBIB; NbExp=1; IntAct=EBI-307531, EBI-352889; CC P22234:PAICS; NbExp=1; IntAct=EBI-307531, EBI-712261; CC Q9BUL8:PDCD10; NbExp=1; IntAct=EBI-307531, EBI-740195; CC O15067:PFAS; NbExp=1; IntAct=EBI-307531, EBI-1052653; CC Q01813:PFKP; NbExp=1; IntAct=EBI-307531, EBI-359022; CC P30153:PPP2R1A; NbExp=1; IntAct=EBI-307531, EBI-302388; CC Q13200:PSMD2; NbExp=1; IntAct=EBI-307531, EBI-357648; CC P61289:PSME3; NbExp=1; IntAct=EBI-307531, EBI-355546; CC Q5T5B3:STK24; NbExp=1; IntAct=EBI-307531, EBI-1054809; CC O43815:STRN; NbExp=1; IntAct=EBI-307531, EBI-1046642; CC Q13033:STRN3; NbExp=1; IntAct=EBI-307531, EBI-1053857; CC Q9NRL3:STRN4; NbExp=1; IntAct=EBI-307531, EBI-717245; CC P26639:TARS; NbExp=1; IntAct=EBI-307531, EBI-1042683; CC P06753:TPM3; NbExp=1; IntAct=EBI-307531, EBI-355607; CC Q5VYM0:VCP; NbExp=1; IntAct=EBI-307531, EBI-1046421; CC P21796:VDAC1; NbExp=1; IntAct=EBI-307531, EBI-354158; CC P40337:VHL; NbExp=1; IntAct=EBI-307531, EBI-301246; CC Q96QK1:VPS35; NbExp=1; IntAct=EBI-307531, EBI-1054634; CC -!- TISSUE SPECIFICITY: Expressed in a variety of tissues. CC -!- DISEASE: Is probably involved in early stages of colorectal CC neoplasia in both sporadic and familial tumors. CC -!- SIMILARITY: Belongs to the MCC family. CC ----------------------------------------------------------------------- CC Copyrighted by the UniProt Consortium, see http://www.uniprot.org/terms CC Distributed under the Creative Commons Attribution-NoDerivs License CC ----------------------------------------------------------------------- DR EMBL; M62397; AAA52069.1; -; mRNA. DR EMBL; BC009279; AAH09279.1; -; mRNA. DR EMBL; BC018919; AAH18919.1; -; mRNA. DR PIR; A38434; A33166. DR RefSeq; NP_002378.1; -. DR UniGene; Hs.593171; -. DR UniGene; Hs.649603; -. DR DIP; DIP:27599N; -. DR IntAct; P23508; -. DR PhosphoSite; P23508; -. DR Ensembl; ENSG00000171444; Homo sapiens. DR GeneID; 4163; -. DR HGNC; HGNC:6935; MCC. DR MIM; 159350; gene. DR PharmGKB; PA30679; -. DR HOVERGEN; P23508; -. DR NextBio; 16402; -. DR ArrayExpress; P23508; -. DR CleanEx; HS_MCC; -. DR GermOnline; ENSG00000171444; Homo sapiens. DR GO; GO:0005515; F:protein binding; IPI:IntAct. DR GO; GO:0004872; F:receptor activity; TAS:ProtInc. DR GO; GO:0045786; P:negative regulation of cell cycle; IEA:UniProtKB-KW. DR GO; GO:0007165; P:signal transduction; TAS:ProtInc. PE 1: Evidence at protein level; KW Anti-oncogene; Cell cycle; Disease mutation; Polymorphism. FT CHAIN 1 829 Colorectal mutant cancer protein. FT /FTId=PRO_0000079333. FT VARIANT 267 267 R -> L (in colorectal cancer). FT /FTId=VAR_005141. FT VARIANT 486 486 P -> L (in colorectal cancer; FT dbSNP:rs35269015). FT /FTId=VAR_005142. FT VARIANT 490 490 S -> L (in colorectal cancer). FT /FTId=VAR_005143. FT VARIANT 506 506 R -> Q (in colorectal cancer). FT /FTId=VAR_005144. FT VARIANT 698 698 A -> V (in colorectal cancer). FT /FTId=VAR_005145. FT VARIANT 751 751 S -> C (in dbSNP:rs17313892). FT /FTId=VAR_033753. SQ SEQUENCE 829 AA; 93055 MW; 5D45225FD91CA18F CRC64; MNSGVAMKYG NDSSAELSEL HSAALASLKG DIVELNKRLQ QTERERDLLE KKLAKAQCEQ SHLMREHEDV QERTTLRYEE RITELHSVIA ELNKKIDRLQ GTTIREEDEY SELRSELSQS QHEVNEDSRS MDQDQTSVSI PENQSTMVTA DMDNCSDLNS ELQRVLTGLE NVVCGRKKSS CSLSVAEVDR HIEQLTTASE HCDLAIKTVE EIEGVLGRDL YPNLAEERSR WEKELAGLRE ENESLTAMLC SKEEELNRTK ATMNAIREER DRLRRRVREL QTRLQSVQAT GPSSPGRLTS TNRPINPSTG ELSTSSSSND IPIAKIAERV KLSKTRSESS SSDRPVLGSE ISSIGVSSSV AEHLAHSLQD CSNIQEIFQT LYSHGSAISE SKIREFEVET ERLNSRIEHL KSQNDLLTIT LEECKSNAER MSMLVGKYES NATALRLALQ YSEQCIEAYE LLLALAESEQ SLILGQFRAA GVGSSPGDQS GDENITQMLK RAHDCRKTAE NAAKALLMKL DGSCGGAFAV AGCSVQPWES LSSNSHTSTT SSTASSCDTE FTKEDEQRLK DYIQQLKNDR AAVKLTMLEL ESIHIDPLSY DVKPRGDSQR LDLENAVLMQ ELMAMKEEMA ELKAQLYLLE KEKKALELKL STREAQEQAY LVHIEHLKSE VEEQKEQRMR SLSSTSSGSK DKPGKECADA ASPALSLAEL RTTCSENELA AEFTNAIRRE KKLKARVQEL VSALERLTKS SEIRHQQSAE FVNDLKRANS NLVAAYEKAK KKHQNKLKKL ESQMMAMVER HETQVRMLKQ RIALLEEENS RPHTNETSL //