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COL5A2
Dostupne strukture
PDB	Pretraga ortologa: PDBe RCSB
Spisak PDB ID kodova
	1A9A
Identifikatori
Aliasi	COL5A2
Vanjski ID-jevi	OMIM: 120190 MGI: 88458 HomoloGene: 20119 GeneCards: COL5A2
Lokacija gena (čovjek)
Hrom.	Hromosom 2 (čovjek)
Kraj	189,225,312 bp
Lokacija gena (miš)
Hrom.	Hromosom 1 (miš)
Kraj	45,542,442 bp
Obrazac RNK ekspresije
	; ;
	Više referentnih podataka o ekspresiji
Ontologija gena
Molekularna funkcija	• vezivanje iona metala; • extracellular matrix structural constituent; • SMAD binding; • molekularna funkcija; • extracellular matrix structural constituent conferring tensile strength;
Ćelijska komponenta	• extracellular region; • endoplasmic reticulum lumen; • collagen; • collagen type V trimer; • GO:0005578 Vanćelijski matriks; • Vanćelijsko; • collagen-containing extracellular matrix;
Biološki proces	• eye morphogenesis; • skeletal system development; • collagen catabolic process; • ossification; • extracellular matrix organization; • cellular response to amino acid stimulus; • negative regulation of endodermal cell differentiation; • skin development; • collagen fibril organization; • notochord development;
	Izvori:Amigo / QuickGO
Ortolozi
	1290
	12832
	ENSG00000204262
	ENSMUSG00000026042
	P05997
	Q3U962
	NM_000393
	NM_007737; NM_172972
	NP_000384
	NP_031763
	Wikipodaci
Pogledaj/uredi – čovjek	Pogledaj/uredi – miš

Kolagenski lanac alfa-2(V) jest protein koji je kod ljudi kodiran genom COL5A2 sa hromosoma 2.^[5]^[6]

Amiokiselininska sekvenca

Dužina polipeptidnog lanca je 1 499 aminokiselina, a molekulska težina 144.910 Da.^[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
MMANWAEARP	LLILIVLLGQ	FVSIKAQEED	EDEGYGEEIA	CTQNGQMYLN
RDIWKPAPCQ	ICVCDNGAIL	CDKIECQDVL	DCADPVTPPG	ECCPVCSQTP
GGGNTNFGRG	RKGQKGEPGL	VPVVTGIRGR	PGPAGPPGSQ	GPRGERGPKG
RPGPRGPQGI	DGEPGVPGQP	GAPGPPGHPS	HPGPDGLSRP	FSAQMAGLDE
KSGLGSQVGL	MPGSVGPVGP	RGPQGLQGQQ	GGAGPTGPPG	EPGDPGPMGP
IGSRGPEGPP	GKPGEDGEPG	RNGNPGEVGF	AGSPGARGFP	GAPGLPGLKG
HRGHKGLEGP	KGEVGAPGSK	GEAGPTGPMG	AMGPLGPRGM	PGERGRLGPQ
GAPGQRGAHG	MPGKPGPMGP	LGIPGSSGFP	GNPGMKGEAG	PTGARGPEGP
QGQRGETGPP	GPVGSPGLPG	AIGTDGTPGA	KGPTGSPGTS	GPPGSAGPPG
SPGPQGSTGP	QGIRGQPGDP	GVPGFKGEAG	PKGEPGPHGI	QGPIGPPGEE
GKRGPRGDPG	TVGPPGPVGE	RGAPGNRGFP	GSDGLPGPKG	AQGERGPVGS
SGPKGSQGDP	GRPGEPGLPG	ARGLTGNPGV	QGPEGKLGPL	GAPGEDGRPG
PPGSIGIRGQ	PGSMGLPGPK	GSSGDPGKPG	EAGNAGVPGQ	RGAPGKDGEV
GPSGPVGPPG	LAGERGEQGP	PGPTGFQGLP	GPPGPPGEGG	KPGDQGVPGD
PGAVGPLGPR	GERGNPGERG	EPGITGLPGE	KGMAGGHGPD	GPKGSPGPSG
TPGDTGPPGL	QGMPGERGIA	GTPGPKGDRG	GIGEKGAEGT	AGNDGARGLP
GPLGPPGPAG	PTGEKGEPGP	RGLVGPPGSR	GNPGSRGENG	PTGAVGFAGP
QGPDGQPGVK	GEPGEPGQKG	DAGSPGPQGL	AGSPGPHGPN	GVPGLKGGRG
TQGPPGATGF	PGSAGRVGPP	GPAGAPGPAG	PLGEPGKEGP	PGLRGDPGSH
GRVGDRGPAG	PPGGPGDKGD	PGEDGQPGPD	GPPGPAGTTG	QRGIVGMPGQ
RGERGMPGLP	GPAGTPGKVG	PTGATGDKGP	PGPVGPPGSN	GPVGEPGPEG
PAGNDGTPGR	DGAVGERGDR	GDPGPAGLPG	SQGAPGTPGP	VGAPGDAGQR
GDPGSRGPIG	PPGRAGKRGL	PGPQGPRGDK	GDHGDRGDRG	QKGHRGFTGL
QGLPGPPGPN	GEQGSAGIPG	PFGPRGPPGP	VGPSGKEGNP	GPLGPIGPPG
VRGSVGEAGP	EGPPGEPGPP	GPPGPPGHLT	AALGDIMGHY	DESMPDPLPE
FTEDQAAPDD	KNKTDPGVHA	TLKSLSSQIE	TMRSPDGSKK	HPARTCDDLK
LCHSAKQSGE	YWIDPNQGSV	EDAIKVYCNM	ETGETCISAN	PSSVPRKTWW
ASKSPDNKPV	WYGLDMNRGS	QFAYGDHQSP	NTAITQMTFL	RLLSKEASQN
ITYICKNSVG	YMDDQAKNLK	KAVVLKGAND	LDIKAEGNIR	FRYIVLQDTC
SKRNGNVGKT	VFEYRTQNVA	RLPIIDLAPV	DVGGTDQEFG	VEIGPVCFV

Funkcija

Ovaj gen kodira alfa lanac za jedan od vlaknastih kolagena male količine. Vlaknaste molekule kolagena su trimeri koji se mogu sastojati od jedog ili više tipova alfa lanaca. Kolagen tipa V nalazi se u tkivima koja sadrže kolagen tipa I i izgleda da regulira sklapanje heterotipskih vlakana sastavljenih od kolagena tipa I i tipa V. Ovaj genski proizvod je usko povezan sa kolagenom tipa XI i moguće je da lanci kolagena tipova V i XI čine jedan tip kolagena sa kombinacijama lanaca specifičnih za tkivo. Mutacije u ovom genu povezane su sa Ehlers-Danlosovim sindromom, klasični tip, ranije poznatim kao tipovi I i II.^[6]

Također pogledajte

Kolagen
TSR1

Reference

^ ^a ^b ^c GRCh38: Ensembl release 89: ENSG00000204262 - Ensembl, maj 2017
^ ^a ^b ^c GRCm38: Ensembl release 89: ENSMUSG00000026042 - 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.
^ Greenspan DS, Byers MG, Eddy RL, Cheng W, Jani-Sait S, Shows TB (maj 1992). "Human collagen gene COL5A1 maps to the q34.2----q34.3 region of chromosome 9, near the locus for nail-patella syndrome". Genomics. 12 (4): 836–7. doi:10.1016/0888-7543(92)90320-R. PMID 1572660.
^ ^a ^b "Entrez Gene: COL5A2 collagen, type V, alpha 2".
^ "UniProt, P05997" (jezik: engleski). Pristupljeno 16. 11. 2021.

Dopunska literatura

Mann K (1992). "Isolation of the alpha 3-chain of human type V collagen and characterization by partial sequencing". Biol. Chem. Hoppe-Seyler. 373 (2): 69–75. doi:10.1515/bchm3.1992.373.1.69. PMID 1571108.
Greenspan DS, Lee ST, Lee BS, Hoffman GG (1992). "Homology between alpha 2(V) and alpha 1(III) collagen promoters and evidence for negatively acting elements in the alpha 2(V) first intron and 5' flanking sequences". Gene Expr. 1 (1): 29–39. PMC 5952197. PMID 1820205.
Myers JC, Loidl HR, Seyer JM, Dion AS (1985). "Complete primary structure of the human alpha 2 type V procollagen COOH-terminal propeptide". J. Biol. Chem. 260 (20): 11216–22. doi:10.1016/S0021-9258(17)39168-8. PMID 2411731.
Woodbury D, Benson-Chanda V, Ramirez F (1989). "Amino-terminal propeptide of human pro-alpha 2(V) collagen conforms to the structural criteria of a fibrillar procollagen molecule". J. Biol. Chem. 264 (5): 2735–8. doi:10.1016/S0021-9258(19)81674-5. PMID 2914927.
Myers JC, Loidl HR, Stolle CA, Seyer JM (1985). "Partial covalent structure of the human alpha 2 type V collagen chain". J. Biol. Chem. 260 (9): 5533–41. doi:10.1016/S0021-9258(18)89055-X. PMID 2985598.
Weil D, Bernard M, Gargano S, Ramirez F (1987). "The pro alpha 2(V) collagen gene is evolutionarily related to the major fibrillar-forming collagens". Nucleic Acids Res. 15 (1): 181–98. doi:10.1093/nar/15.1.181. PMC 340404. PMID 3029669.
Tsipouras P, Schwartz RC, Liddell AC, et al. (1989). "Genetic distance of two fibrillar collagen loci, COL3A1 and COL5A2, located on the long arm of human chromosome 2". Genomics. 3 (3): 275–7. doi:10.1016/0888-7543(88)90089-4. PMID 3224983.
Emanuel BS, Cannizzaro LA, Seyer JM, Myers JC (1985). "Human alpha 1(III) and alpha 2(V) procollagen genes are located on the long arm of chromosome 2". Proc. Natl. Acad. Sci. U.S.A. 82 (10): 3385–9. doi:10.1073/pnas.82.10.3385. PMC 397780. PMID 3858826.
Moradi-Améli M, Rousseau JC, Kleman JP, et al. (1994). "Diversity in the processing events at the N-terminus of type-V collagen". Eur. J. Biochem. 221 (3): 987–95. doi:10.1111/j.1432-1033.1994.tb18815.x. PMID 8181482.
Wright GD, Hughes AE, Regan M, Doherty M (1996). "Association of two loci on chromosome 2q with nodal osteoarthritis". Ann. Rheum. Dis. 55 (5): 317–9. doi:10.1136/ard.55.5.317. PMC 1010169. PMID 8660106.
Michalickova K, Susic M, Willing MC, et al. (1998). "Mutations of the alpha2(V) chain of type V collagen impair matrix assembly and produce ehlers-danlos syndrome type I". Hum. Mol. Genet. 7 (2): 249–55. doi:10.1093/hmg/7.2.249. PMID 9425231.
Bertelli R, Valenti F, Oleggini R, et al. (1998). "Cell-specific regulation of alpha1(III) and alpha2(V) collagen by TGF-beta1 in tubulointerstitial cell models". Nephrol. Dial. Transplant. 13 (3): 573–9. doi:10.1093/ndt/13.3.573. PMID 9550630.
Shrivastava A, Radziejewski C, Campbell E, et al. (1998). "An orphan receptor tyrosine kinase family whose members serve as nonintegrin collagen receptors". Mol. Cell. 1 (1): 25–34. doi:10.1016/S1097-2765(00)80004-0. PMID 9659900.
Richards AJ, Martin S, Nicholls AC, et al. (1999). "A single base mutation in COL5A2 causes Ehlers-Danlos syndrome type II". J. Med. Genet. 35 (10): 846–8. doi:10.1136/jmg.35.10.846. PMC 1051462. PMID 9783710.
Wenstrup RJ, Florer JB, Willing MC, et al. (2001). "COL5A1 haploinsufficiency is a common molecular mechanism underlying the classical form of EDS". Am. J. Hum. Genet. 66 (6): 1766–76. doi:10.1086/302930. PMC 1378044. PMID 10777716.
Välkkilä M, Melkoniemi M, Kvist L, et al. (2002). "Genomic organization of the human COL3A1 and COL5A2 genes: COL5A2 has evolved differently than the other minor fibrillar collagen genes". Matrix Biol. 20 (5–6): 357–66. doi:10.1016/S0945-053X(01)00145-7. PMID 11566270.
Unsöld C, Pappano WN, Imamura Y, et al. (2002). "Biosynthetic processing of the pro-alpha 1(V)2pro-alpha 2(V) collagen heterotrimer by bone morphogenetic protein-1 and furin-like proprotein convertases". J. Biol. Chem. 277 (7): 5596–602. doi:10.1074/jbc.M110003200. PMID 11741999.
Grond-Ginsbach C, Wigger F, Morcher M, et al. (2002). "Sequence analysis of the COL5A2 gene in patients with spontaneous cervical artery dissections". Neurology. 58 (7): 1103–5. doi:10.1212/wnl.58.7.1103. PMID 11940702. S2CID 11310943.
Takahara K, Schwarze U, Imamura Y, et al. (2002). "Order of Intron Removal Influences Multiple Splice Outcomes, Including a Two-Exon Skip, in a COL5A1 Acceptor-Site Mutation That Results in Abnormal Pro-α1(V) N-Propeptides and Ehlers-Danlos Syndrome Type I". Am. J. Hum. Genet. 71 (3): 451–65. doi:10.1086/342099. PMC 379186. PMID 12145749.
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.

Vanjski linkovi

Ehlers-Danlos Syndrome, Classic Type. Includes: Ehlers-Danlos Syndrome Type I, Ehlers-Danlos Syndrome Type II

[refGRCh38Ensembl-1] GRCh38: Ensembl release 89: ENSG00000204262 - Ensembl, maj 2017

[refGRCm38Ensembl-2] GRCm38: Ensembl release 89: ENSMUSG00000026042 - 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.

[pmid1572660-5] Greenspan DS, Byers MG, Eddy RL, Cheng W, Jani-Sait S, Shows TB (maj 1992). "Human collagen gene COL5A1 maps to the q34.2----q34.3 region of chromosome 9, near the locus for nail-patella syndrome". Genomics. 12 (4): 836–7. doi:10.1016/0888-7543(92)90320-R. PMID 1572660.

[entrez-6] "Entrez Gene: COL5A2 collagen, type V, alpha 2".

[UniProt-7] "UniProt, P05997" (jezik: engleski). Pristupljeno 16. 11. 2021.

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