ECM1

ECM1
Identifikatori
Aliasi	ECM1
Vanjski ID-jevi	OMIM: 602201 MGI: 103060 HomoloGene: 3260 GeneCards: ECM1
Lokacija gena (čovjek)
Hrom.	Hromosom 1 (čovjek)
Kraj	150,513,789 bp
Lokacija gena (miš)
Hrom.	Hromosom 3 (miš)
Kraj	95,646,881 bp
Obrazac RNK ekspresije
	Više referentnih podataka o ekspresiji
Ontologija gena
Molekularna funkcija	• interleukin-2 receptor binding; • signal transducer activity; • protease binding; • protein C-terminus binding; • GO:0001948, GO:0016582 vezivanje za proteine; • vezivanje enzima; • laminin binding;
Ćelijska komponenta	• GO:0005578 Vanćelijski matriks; • Egzosom; • extracellular region; • platelet dense granule lumen; • Vanćelijsko;
Biološki proces	• regulation of T cell migration; • negative regulation of peptidase activity; • negative regulation of bone mineralization; • positive regulation of endothelial cell proliferation; • ossification; • regulation of bone mineralization; • GO:0044324, GO:0003256, GO:1901213, GO:0046019, GO:0046020, GO:1900094, GO:0061216, GO:0060994, GO:1902064, GO:0003258, GO:0072212 regulation of transcription by RNA polymerase II; • biomineral tissue development; • negative regulation of cytokine-mediated signaling pathway; • positive regulation of angiogenesis; • Angiogeneza; • positive regulation of I-kappaB kinase/NF-kappaB signaling; • inflammatory response; • regulation of type 2 immune response; • platelet degranulation; • GO:0072468 Transdukcija signala;
	Izvori:Amigo / QuickGO
Ortolozi
	1893
	13601
	ENSG00000143369
	ENSMUSG00000028108
	Q16610
	Q61508
	NM_022664; NM_001202858; NM_004425
	NM_001252653; NM_007899; NM_001355070
	NP_001189787; NP_004416; NP_073155
	NP_001239582; NP_031925; NP_001341999
	Wikipodaci
Pogledaj/uredi – čovjek	Pogledaj/uredi – miš

Protein 1 vanćelijskog matriksa jest protein koji je kod ljudi kodiran genom ECM1 sa hromosoma 1.^[5]^[6]^[7]

Aminokiselinska sekvenca[uredi | uredi izvor]

Dužina polipeptidnog lanca je 540 aminokiselina, a molekulska težina 60.674 Da.^[8]

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
MGTTARAALV	LTYLAVASAA	SEGGFTATGQ	RQLRPEHFQE	VGYAAPPSPP
LSRSLPMDHP	DSSQHGPPFE	GQSQVQPPPS	QEATPLQQEK	LLPAQLPAEK
EVGPPLPQEA	VPLQKELPSL	QHPNEQKEGT	PAPFGDQSHP	EPESWNAAQH
CQQDRSQGGW	GHRLDGFPPG	RPSPDNLNQI	CLPNRQHVVY	GPWNLPQSSY
SHLTRQGETL	NFLEIGYSRC	CHCRSHTNRL	ECAKLVWEEA	MSRFCEAEFS
VKTRPHWCCT	RQGEARFSCF	QEEAPQPHYQ	LRACPSHQPD	ISSGLELPFP
PGVPTLDNIK	NICHLRRFRS	VPRNLPATDP	LQRELLALIQ	LEREFQRCCR
QGNNHTCTWK	AWEDTLDKYC	DREYAVKTHH	HLCCRHPPSP	TRDECFARRA
PYPNYDRDIL	TIDIGRVTPN	LMGHLCGNQR	VLTKHKHIPG	LIHNMTARCC
DLPFPEQACC	AEEEKLTFIN	DLCGPRRNIW	RDPALCCYLS	PGDEQVNCFN
INYLRNVALV	SGDTENAKGQ	GEQGSTGGTN	ISSTSEPKEE

Funkcija[uredi | uredi izvor]

Ovaj gen kodira vanćelijski protein koji sadrži motive sa cisteinskom strukturom, karakterističnom za cisteinski obrazac domena "dvostruke petlje" koji se vezuju za ligand iz porodice albuminskih proteina. Ovaj gen nalazi se izvan epidermnog diferencijacionog kompleksa (EDC), skupa od tri porodice gena uključenih u diferencijaciju epiderme. Opisane su alternativno prerađene varijante transkripta koje kodiraju različite izoforme.^[7]

Klinički značaj[uredi | uredi izvor]

ECM1 je uključen u rak dojke, karcinom štitne žlijezde, hepatoćelijski karcinom i druge tipove raka, kao i u ulcerozni kolitis.^[9] Mutacije ECM-1 zametne linije uzrokuju genetičku bolest lipoidna proteinoza. Autoimunski napad na ECM-1 je odgovoran za lichen sclerosus (pogledajte Atlas of Genetics and Cytogenetics in Oncology and Haematology).^[10]

Također pogledajte[uredi | uredi izvor]

Lipoidna proteinoza

Reference[uredi | uredi izvor]

^ ^a ^b ^c GRCh38: Ensembl release 89: ENSG00000143369 - Ensembl, maj 2017
^ ^a ^b ^c GRCm38: Ensembl release 89: ENSMUSG00000028108 - 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.
^ Smits P, Ni J, Feng P, Wauters J, Van Hul W, Boutaibi ME, Dillon PJ, Merregaert J (Jan 1998). "The human extracellular matrix gene 1 (ECM1): genomic structure, cDNA cloning, expression pattern, and chromosomal localization". Genomics. 45 (3): 487–95. doi:10.1006/geno.1997.4918. PMID 9367673.
^ Johnson MR, Wilkin DJ, Vos HL, Ortiz de Luna RI, Dehejia AM, Polymeropoulos MH, Francomano CA (maj 1998). "Characterization of the human extracellular matrix protein 1 gene on chromosome 1q21". Matrix Biol. 16 (5): 289–92. doi:10.1016/S0945-053X(97)90017-2. PMID 9501329.
^ ^a ^b "Entrez Gene: ECM1 extracellular matrix protein 1".
^ "UniProt, Q16610" (jezik: .). Pristupljeno 9. 12. 2021.CS1 održavanje: nepoznati jezik (link)
^ "ECM1 (Extracellular matrix protein 1)".
^ "Atlas of Genetics and Cytogenetics in Oncology and Haematology". atlasgeneticsoncology.org.

Dopunska literatura[uredi | uredi izvor]

Viliavin GD, Panchenko KP, Nishanov F, Budaev KD (1978). "[Acid-producing function of the stomach in pyloric ulcers]". Sovetskaia Meditsina (12): 43–5. PMID 601588.
Smits P, Poumay Y, Karperien M, et al. (2000). "Differentiation-dependent alternative splicing and expression of the extracellular matrix protein 1 gene in human keratinocytes". J. Invest. Dermatol. 114 (4): 718–24. doi:10.1046/j.1523-1747.2000.00916.x. PMID 10733679.
Hamada T, McLean WH, Ramsay M, et al. (2002). "Lipoid proteinosis maps to 1q21 and is caused by mutations in the extracellular matrix protein 1 gene (ECM1)". Hum. Mol. Genet. 11 (7): 833–40. doi:10.1093/hmg/11.7.833. PMID 11929856.
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.
Hamada T, Wessagowit V, South AP, et al. (2003). "Extracellular matrix protein 1 gene (ECM1) mutations in lipoid proteinosis and genotype-phenotype correlation". J. Invest. Dermatol. 120 (3): 345–50. doi:10.1046/j.1523-1747.2003.12073.x. PMID 12603844.
Matsuda A, Suzuki Y, Honda G, et al. (2003). "Large-scale identification and characterization of human genes that activate NF-kappaB and MAPK signaling pathways". Oncogene. 22 (21): 3307–18. doi:10.1038/sj.onc.1206406. PMID 12761501.
Wang L, Yu J, Ni J, et al. (2003). "Extracellular matrix protein 1 (ECM1) is over-expressed in malignant epithelial tumors". Cancer Lett. 200 (1): 57–67. doi:10.1016/S0304-3835(03)00350-1. PMID 14550953.
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.
Horev L, Potikha T, Ayalon S, et al. (2006). "A novel splice-site mutation in ECM-1 gene in a consanguineous family with lipoid proteinosis". Exp. Dermatol. 14 (12): 891–7. doi:10.1111/j.1600-0625.2005.00374.x. PMID 16274456. S2CID 25598548.
Liu T, Qian WJ, Gritsenko MA, et al. (2006). "Human plasma N-glycoproteome analysis by immunoaffinity subtraction, hydrazide chemistry, and mass spectrometry". J. Proteome Res. 4 (6): 2070–80. doi:10.1021/pr0502065. PMC 1850943. PMID 16335952.
Fujimoto N, Terlizzi J, Aho S, et al. (2006). "Extracellular matrix protein 1 inhibits the activity of matrix metalloproteinase 9 through high-affinity protein/protein interactions". Exp. Dermatol. 15 (4): 300–7. doi:10.1111/j.0906-6705.2006.00409.x. PMID 16512877. S2CID 40715604.
Lim J, Hao T, Shaw C, et al. (2006). "A protein-protein interaction network for human inherited ataxias and disorders of Purkinje cell degeneration". Cell. 125 (4): 801–14. doi:10.1016/j.cell.2006.03.032. PMID 16713569. S2CID 13709685.
Han B, Zhang X, Liu Q, et al. (2007). "Homozygous missense mutation in the ECM1 gene in Chinese siblings with lipoid proteinosis". Acta Derm. Venereol. 87 (5): 387–9. doi:10.2340/00015555-0292. PMID 17721643.

Vanjski linkovi[uredi | uredi izvor]

[refGRCh38Ensembl-1] GRCh38: Ensembl release 89: ENSG00000143369 - Ensembl, maj 2017

[refGRCm38Ensembl-2] GRCm38: Ensembl release 89: ENSMUSG00000028108 - 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.

[pmid9367673-5] Smits P, Ni J, Feng P, Wauters J, Van Hul W, Boutaibi ME, Dillon PJ, Merregaert J (Jan 1998). "The human extracellular matrix gene 1 (ECM1): genomic structure, cDNA cloning, expression pattern, and chromosomal localization". Genomics. 45 (3): 487–95. doi:10.1006/geno.1997.4918. PMID 9367673.

[pmid9501329-6] Johnson MR, Wilkin DJ, Vos HL, Ortiz de Luna RI, Dehejia AM, Polymeropoulos MH, Francomano CA (maj 1998). "Characterization of the human extracellular matrix protein 1 gene on chromosome 1q21". Matrix Biol. 16 (5): 289–92. doi:10.1016/S0945-053X(97)90017-2. PMID 9501329.

[entrez-7] "Entrez Gene: ECM1 extracellular matrix protein 1".

[UniProt-8] "UniProt, Q16610" (jezik: .). Pristupljeno 9. 12. 2021.CS1 održavanje: nepoznati jezik (link)

[9] "ECM1 (Extracellular matrix protein 1)".

[10] "Atlas of Genetics and Cytogenetics in Oncology and Haematology". atlasgeneticsoncology.org.

[1]

[2]

[3]

[4]

[5]

[6]

[7]

[8]

[9]

[10]