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MFAP2

MFAP2

Identifikatori

Vanjski ID-jevi

OMIM: 156790 MGI: 99559 HomoloGene: 1801 GeneCards: MFAP2

Lokacija gena (čovjek)

Hrom.	Hromosom 1 (čovjek)^[1]

Bend	1p36.13	Početak	16,974,502 bp^[1]
Bend	1p36.13	Kraj	16,980,632 bp^[1]

Lokacija gena (miš)

Hrom.	Hromosom 4 (miš)^[2]

Bend	4\|4 D3	Početak	140,737,729 bp^[2]
Bend	4\|4 D3	Kraj	140,743,295 bp^[2]

Obrazac RNK ekspresije

Više referentnih podataka o ekspresiji

Ontologija gena
Molekularna funkcija	• extracellular matrix structural constituent
Ćelijska komponenta	• Mikrovlakno • extracellular region • collagen-containing extracellular matrix
Biološki proces	• embryonic eye morphogenesis • post-embryonic eye morphogenesis • extracellular matrix organization • positive regulation of cold-induced thermogenesis
Izvori:Amigo / QuickGO

Vrste

Čovjek

Miš


4237


17150


ENSG00000117122


ENSMUSG00000060572


P55001


P55002 Q99PM0

RefSeq (mRNK)


NM_001135247 NM_001135248 NM_002403 NM_017459


NM_001161799 NM_008546 NM_001369292

RefSeq (bjelančevina)


NP_001128719 NP_001128720 NP_002394 NP_059453


NP_001155271 NP_032572 NP_001356221

Lokacija (UCSC)

Chr 1: 16.97 – 16.98 Mb

Chr 4: 140.74 – 140.74 Mb

PubMed pretraga

^[3]

^[4]

Pogledaj/uredi – čovjek

Pogledaj/uredi – miš

Mikrovlaknima pridruženi protein 2 jest protein koji je kod ljudi kodiran genom MFAP2 sa hromosoma 1.^[5]^[6]

Aminokiselinska sekvenca

Dužina polipeptidnog lanca je 183 aminokiseline, a molekulska težina 20.826 Da.^[7]

D: Asparaginska kiselina

E: Glutaminska kiselina

Y: Tirozin

10		20		30		40		50
MRAAYLFLLF		LPAGLLAQGQ		YDLDPLPPFP		DHVQYTHYSD		QIDNPDYYDY
QEVTPRPSEE		QFQFQSQQQV		QQEVIPAPTP		EPGNAELEPT		EPGPLDCREE
QYPCTRLYSI		HRPCKQCLNE		VCFYSLRRVY		VINKEICVRT		VCAHEELLRA
DLCRDKFSKC		GVMASSGLCQ		SVAASCARSC		GSC

Funkcija

Protein 2 povezan sa mikrovlaknima je glavni antigen elastin-povezanih mikrofibrila i kandidat za uključivanje u etiologiju nasljednih bolesti vezivnog tkiva. Ovaj gen kodira dva transkript sa dva alternativno prerađena 5' neprevedena egzona. Ova dva transkripta sadrže po osam istih kodirajućih egzona, te stoga kodiraju isti protein.^[6]

Reference

^ ^a ^b ^c GRCh38: Ensembl release 89: ENSG00000117122 - Ensembl, maj 2017
^ ^a ^b ^c GRCm38: Ensembl release 89: ENSMUSG00000060572 - 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.
^ Faraco J, Bashir M, Rosenbloom J, Francke U (Jun 1995). "Characterization of the human gene for microfibril-associated glycoprotein (MFAP2), assignment to chromosome 1p36.1-p35, and linkage to D1S170". Genomics. 25 (3): 630–7. doi:10.1016/0888-7543(95)80004-6. PMID 7759096.
^ ^a ^b "Entrez Gene: MFAP2 microfibrillar-associated protein 2".
^ "UniProt, P55001" (jezik: eng.). Pristupljeno 30. 11. 2021.CS1 održavanje: nepoznati jezik (link)

Dopunska literatura

Gibson MA, Hughes JL, Fanning JC, Cleary EG (1986). "The major antigen of elastin-associated microfibrils is a 31-kDa glycoprotein". J. Biol. Chem. 261 (24): 11429–36. doi:10.1016/S0021-9258(18)67403-4. PMID 3015971.
Maruyama K, Sugano S (1994). "Oligo-capping: a simple method to replace the cap structure of eukaryotic mRNAs with oligoribonucleotides". Gene. 138 (1–2): 171–4. doi:10.1016/0378-1119(94)90802-8. PMID 8125298.
Brown-Augsburger P, Broekelmann T, Rosenbloom J, Mecham RP (1996). "Functional domains on elastin and microfibril-associated glycoprotein involved in elastic fibre assembly". Biochem. J. 318 (1): 149–55. doi:10.1042/bj3180149. PMC 1217601. PMID 8761465.
Finnis ML, Gibson MA (1997). "Microfibril-associated glycoprotein-1 (MAGP-1) binds to the pepsin-resistant domain of the alpha3(VI) chain of type VI collagen". J. Biol. Chem. 272 (36): 22817–23. doi:10.1074/jbc.272.36.22817. PMID 9278443.
Suzuki Y, Yoshitomo-Nakagawa K, Maruyama K, et al. (1997). "Construction and characterization of a full length-enriched and a 5'-end-enriched cDNA library". Gene. 200 (1–2): 149–56. doi:10.1016/S0378-1119(97)00411-3. PMID 9373149.
Fujimoto N, Tajima S, Ishibashi A (2000). "Expression of microfibril-associated glycoprotein-1 (MAGP-1) in human epidermal keratinocytes". Arch. Dermatol. Res. 292 (1): 21–6. doi:10.1007/PL00007456. PMID 10664011. S2CID 36505268.
Trask BC, Broekelmann T, Ritty TM, et al. (2001). "Posttranslational modifications of microfibril associated glycoprotein-1 (MAGP-1)". Biochemistry. 40 (14): 4372–80. CiteSeerX 10.1.1.721.7743. doi:10.1021/bi002738z. PMID 11284693.
Jensen SA, Reinhardt DP, Gibson MA, Weiss AS (2001). "Protein interaction studies of MAGP-1 with tropoelastin and fibrillin-1". J. Biol. Chem. 276 (43): 39661–6. doi:10.1074/jbc.M104533200. PMID 11481325.
Reinboth B, Hanssen E, Cleary EG, Gibson MA (2002). "Molecular interactions of biglycan and decorin with elastic fiber components: biglycan forms a ternary complex with tropoelastin and microfibril-associated glycoprotein 1". J. Biol. Chem. 277 (6): 3950–7. doi:10.1074/jbc.M109540200. PMID 11723132.
Segade F, Trask BC, Broekelmann TJ, et al. (2002). "Identification of a matrix-binding domain in MAGP1 and MAGP2 and intracellular localization of alternative splice forms". J. Biol. Chem. 277 (13): 11050–7. doi:10.1074/jbc.M110347200. PMID 11796718.
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.
Werneck CC, Trask BC, Broekelmann TJ, et al. (2004). "Identification of a major microfibril-associated glycoprotein-1-binding domain in fibrillin-2". J. Biol. Chem. 279 (22): 23045–51. doi:10.1074/jbc.M402656200. PMID 15044481.
Clarke AW, Weiss AS (2004). "Microfibril-associated glycoprotein-1 binding to tropoelastin: multiple binding sites and the role of divalent cations". Eur. J. Biochem. 271 (14): 3085–90. doi:10.1111/j.1432-1033.2004.04246.x. PMID 15233806.
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.
Rual JF, Venkatesan K, Hao T, et al. (2005). "Towards a proteome-scale map of the human protein-protein interaction network". Nature. 437 (7062): 1173–8. Bibcode:2005Natur.437.1173R. doi:10.1038/nature04209. PMID 16189514. S2CID 4427026.
Miyamoto A, Lau R, Hein PW, et al. (2006). "Microfibrillar proteins MAGP-1 and MAGP-2 induce Notch1 extracellular domain dissociation and receptor activation". J. Biol. Chem. 281 (15): 10089–97. doi:10.1074/jbc.M600298200. PMID 16492672.
Gregory SG, Barlow KF, McLay KE, et al. (2006). "The DNA sequence and biological annotation of human chromosome 1". Nature. 441 (7091): 315–21. Bibcode:2006Natur.441..315G. doi:10.1038/nature04727. PMID 16710414.

Vanjski linkovi

Bjelančevine: skleroproteini

Vanćelijski matriks

Formiranje vlakana	tip I KOL1A1 KOL1A2 tip II KOL2A1 tip III tip V KOL5A1 KOL5A2 KOL5A3 KOL24A1 KOL26A1
Ostali	FACIT: tip IX KOL9A1 KOL9A2 KOL9A3 tip XII KOL12A1 KOL14A1 KOL16A1 KOL19A1 KOL20A1 KOL21A1 KOL22A1 bazna membrana: tip IV KOL4A1 KOL4A2 KOL4A3 KOL4A4 KOL4A5 KOL4A6 multipleksin: KOL15A1 tip XVIII KOL18A1 endostatin transmembranski: KOL13A1 KOL17A1 KOL23A1 KOL25A1 ostali: tip VI KOL6A1 KOL6A2 KOL6A3 KOL6A5 tip VII KOL7A1 tip VIII KOL8A1 KOL8A2 tip X KOL10A1 tip XI KOL11A1 KOL11A2 KOL27A1 KOL28A1
Enzimi	Prolil-hidroksilaza/Lizil hidroksilaza Protein povezani sa hrskavicom/Leprekan ADAMTS2 Prokolagen-peptidaza Lizil-oksidaza

Alfa
- LAMA1
- LAMA2
- LAMA3
- LAMA4
- LAMA5
Beta
- LAMB1
- LAMB2
- LAMB3
- LAMB4
Gama
- LAMC1
- LAMC2
- LAMC3

Ostali

Ostalo

Također pogledajte: bolesti

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