MCC (gen)

MCC (gen)
Identifikatori
Aliasi	MCC
Vanjski ID-jevi	OMIM: 159350 MGI: 96930 HomoloGene: 20539 GeneCards: MCC
Lokacija gena (čovjek)
Hrom.	Hromosom 5 (čovjek)
Kraj	113,488,823 bp
Lokacija gena (miš)
Hrom.	Hromosom 18 (miš)
Kraj	44,945,249 bp
Obrazac RNK ekspresije
	Više referentnih podataka o ekspresiji
Ontologija gena
Molekularna funkcija	• GO:0001948, GO:0016582 vezivanje za proteine; • signaling receptor activity;
Ćelijska komponenta	• citoplazma; • ćelijska membrana; • projekcija ćelije; • membrana; • jedro; • lamellipodium; • nukleoplazma; • citosol;
Biološki proces	• establishment of protein localization; • negative regulation of epithelial cell proliferation; • negative regulation of epithelial cell migration; • Wnt-signalni put; • negative regulation of canonical Wnt signaling pathway; • GO:0072468 Transdukcija signala;
	Izvori:Amigo / QuickGO
Ortolozi
	4163
	328949
	ENSG00000171444
	ENSMUSG00000071856
	P23508
	n/a
	NM_001085377; NM_002387
	NM_001033406; NM_001085373; NM_001085374
	NP_001078846; NP_002378
	n/a
	Wikipodaci
Pogledaj/uredi – čovjek	Pogledaj/uredi – miš

Mutantni protein kolorektumskog kancera jest protein koji je kod ljudi kodiran genom MCC sa hromosoma 5.^[5]^[6]

Aminokiselinska sekvenca

Dužina polipeptidnog lanca je 829 aminokiselina, а molekulska težina Da. 93 027^[7]

C: Cistein

D: Asparaginska kiselina

E: Glutaminska kiselina

F: Fenilalanin

G: Glicin

H: Histidin

I: Izoleucin

K: Lizin

L: Leucin

M: Metionin

N: Asparagin

P: Prolin

Q: Glutamin

R: Arginin

S: Serin

T: Treonin

V: Valin

W: Triptofan

Y: Tirozin

10	20	30	40	50
MNSGVAMKYG	NDSSAELSEL	HSAALASLKG	DIVELNKRLQ	QTERERDLLE
KKLAKAQCEQ	SHLMREHEDV	QERTTLRYEE	RITELHSVIA	ELNKKIDRLQ
GTTIREEDEY	SELRSELSQS	QHEVNEDSRS	MDQDQTSVSI	PENQSTMVTA
DMDNCSDLNS	ELQRVLTGLE	NVVCGRKKSS	CSLSVAEVDK	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

Funkcija

Ovaj gen je potencijalni kolorektumski gen supresije tumora za koji se smatra da negativno regulira napredovanje ćelijskog ciklusa. Ortologni gen kod miševa eksprimira fosfoprotein povezan s plazmamembranom i membranskim organelama, a prekomjerna ekspresija mišjeg proteina inhibira ulazak u S-fazu. Za ovaj gen nađeno je više varijanti transkripta koje kodiraju različite izoforme.^[6]

Reference

^ ^a ^b ^c GRCh38: Ensembl release 89: ENSG00000171444 - Ensembl, maj 2017
^ ^a ^b ^c GRCm38: Ensembl release 89: ENSMUSG00000071856 - Ensembl, maj 2017
^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^ Kinzler KW, Nilbert MC, Vogelstein B, Bryan TM, Levy DB, Smith KJ, Preisinger AC, Hamilton SR, Hedge P, Markham A, et al. (Apr 1991). "Identification of a gene located at chromosome 5q21 that is mutated in colorectal cancers". Science. 251 (4999): 1366–70. Bibcode:1991Sci...251.1366K. doi:10.1126/science.1848370. PMID 1848370.
^ ^a ^b "Entrez Gene: MCC mutated in colorectal cancers".
^ "UniProt, P23508" (jezik: engleski). Pristupljeno 16. 10. 2021.

Dopunska literatura

Lindgren V, Bryke CR, Ozcelik T, et al. (1992). "Phenotypic, cytogenetic, and molecular studies of three patients with constitutional deletions of chromosome 5 in the region of the gene for familial adenomatous polyposis". Am. J. Hum. Genet. 50 (5): 988–97. PMC 1682619. PMID 1315124.
Nishisho I, Nakamura Y, Miyoshi Y, et al. (1991). "Mutations of chromosome 5q21 genes in FAP and colorectal cancer patients". Science. 253 (5020): 665–9. Bibcode:1991Sci...253..665N. doi:10.1126/science.1651563. PMID 1651563.
Hoshino Y, Horikawa I, Oshimura M, Yuasa Y (1991). "Normal human chromosome 5, on which a familial adenomatous polyposis gene is located, has tumor suppressive activity". Biochem. Biophys. Res. Commun. 174 (1): 298–304. doi:10.1016/0006-291X(91)90520-H. PMID 1846539.
Curtis LJ, Bubb VJ, Gledhill S, et al. (1994). "Loss of heterozygosity of MCC is not associated with mutation of the retained allele in sporadic colorectal cancer". Hum. Mol. Genet. 3 (3): 443–6. doi:10.1093/hmg/3.3.443. PMID 8012355.
Matsumine A, Senda T, Baeg GH, et al. (1996). "MCC, a cytoplasmic protein that blocks cell cycle progression from the G0/G1 to S phase". J. Biol. Chem. 271 (17): 10341–6. doi:10.1074/jbc.271.17.10341. PMID 8626604.
Bonaldo MF, Lennon G, Soares MB (1997). "Normalization and subtraction: two approaches to facilitate gene discovery". Genome Res. 6 (9): 791–806. doi:10.1101/gr.6.9.791. PMID 8889548.
Hartley JL, Temple GF, Brasch MA (2001). "DNA Cloning Using In Vitro Site-Specific Recombination". Genome Res. 10 (11): 1788–95. doi:10.1101/gr.143000. PMC 310948. PMID 11076863.
Wiemann S, Weil B, Wellenreuther R, et al. (2001). "Toward a Catalog of Human Genes and Proteins: Sequencing and Analysis of 500 Novel Complete Protein Coding Human cDNAs". Genome Res. 11 (3): 422–35. doi:10.1101/gr.GR1547R. PMC 311072. PMID 11230166.
Strausberg RL, Feingold EA, Grouse LH, et al. (2003). "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences". Proc. Natl. Acad. Sci. U.S.A. 99 (26): 16899–903. doi:10.1073/pnas.242603899. PMC 139241. PMID 12477932.
Ota T, Suzuki Y, Nishikawa T, et al. (2004). "Complete sequencing and characterization of 21,243 full-length human cDNAs". Nat. Genet. 36 (1): 40–5. doi:10.1038/ng1285. PMID 14702039.
Bouwmeester T, Bauch A, Ruffner H, et al. (2004). "A physical and functional map of the human TNF-alpha/NF-kappa B signal transduction pathway". Nat. Cell Biol. 6 (2): 97–105. doi:10.1038/ncb1086. PMID 14743216. S2CID 11683986.
Gerhard DS, Wagner L, Feingold EA, et al. (2004). "The Status, Quality, and Expansion of the NIH Full-Length cDNA Project: The Mammalian Gene Collection (MGC)". Genome Res. 14 (10B): 2121–7. doi:10.1101/gr.2596504. PMC 528928. PMID 15489334.
Wiemann S, Arlt D, Huber W, et al. (2004). "From ORFeome to Biology: A Functional Genomics Pipeline". Genome Res. 14 (10B): 2136–44. doi:10.1101/gr.2576704. PMC 528930. PMID 15489336.
Mehrle A, Rosenfelder H, Schupp I, et al. (2006). "The LIFEdb database in 2006". Nucleic Acids Res. 34 (Database issue): D415–8. doi:10.1093/nar/gkj139. PMC 1347501. PMID 16381901.
Ewing RM, Chu P, Elisma F, et al. (2007). "Large-scale mapping of human protein–protein interactions by mass spectrometry". Mol. Syst. Biol. 3 (1): 89. doi:10.1038/msb4100134. PMC 1847948. PMID 17353931.

[refGRCh38Ensembl-1] GRCh38: Ensembl release 89: ENSG00000171444 - Ensembl, maj 2017

[refGRCm38Ensembl-2] GRCm38: Ensembl release 89: ENSMUSG00000071856 - Ensembl, maj 2017

[3] "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.

[4] "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.

[pmid1848370-5] Kinzler KW, Nilbert MC, Vogelstein B, Bryan TM, Levy DB, Smith KJ, Preisinger AC, Hamilton SR, Hedge P, Markham A, et al. (Apr 1991). "Identification of a gene located at chromosome 5q21 that is mutated in colorectal cancers". Science. 251 (4999): 1366–70. Bibcode:1991Sci...251.1366K. doi:10.1126/science.1848370. PMID 1848370.

[entrez-6] "Entrez Gene: MCC mutated in colorectal cancers".

[UniProt-7] "UniProt, P23508" (jezik: engleski). Pristupljeno 16. 10. 2021.

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