VPS37A

VPS37A
Identifikatori
Aliasi	VPS37A
Vanjski ID-jevi	OMIM: 609927 MGI: 1261835 HomoloGene: 45120 GeneCards: VPS37A
Lokacija gena (čovjek)
Hrom.	Hromosom 8 (čovjek)
Kraj	17,302,427 bp
Lokacija gena (miš)
Hrom.	Hromosom 8 (miš)
Kraj	40,551,134 bp
Ontologija gena
Molekularna funkcija	• GO:0001948, GO:0016582 vezivanje za proteine;
Ćelijska komponenta	• endozom; • centrosom; • intracellular membrane-bounded organelle; • late endosome membrane; • membrana; • nukleoplazma; • endosome membrane; • jedro; • citosol; • ESCRT I complex; • host cell;
Biološki proces	• viral budding via host ESCRT complex; • GO:0019067 viral life cycle; • multivesicular body assembly; • endosomal transport; • protein transport; • ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway; • macroautophagy; • endosome transport via multivesicular body sorting pathway; • protein targeting to membrane; • protein targeting to vacuole; • GO:0046795 intracellular transport of virus;
	Izvori:Amigo / QuickGO
Ortolozi
	137492
	52348
	ENSG00000155975
	ENSMUSG00000031600
	Q8NEZ2
	Q8CHS8
	NM_001145152; NM_152415
	NM_033560
NP_001138624; NP_689628; NP_001350096; NP_001350097; NP_001350098;
	NP_001350099; NP_001350100; NP_001350101; NP_001350102
	NP_291038
	Wikipodaci
Pogledaj/uredi – čovjek	Pogledaj/uredi – miš

Homolog A proteina vakuolskog sortiranja 37 (S. cerevisiae) je protein koji je kod ljudi kodiran genom VPS37A.^[5] Član je kompleksa endosomnog sortiranja potrebnog za transportni (ESCRT) sistem.^[6]

Aminokiselinska sekvenca[uredi | uredi izvor]

Dužina polipeptidnog lanca je 397 aminokiselina, а molekulska težina 44.314 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
MSWLFPLTKS	ASSSAAGSPG	GLTSLQQQKQ	RLIESLRNSH	SSIAEIQKDV
EYRLPFTINN	LTININILLP	PQFPQEKPVI	SVYPPIRHHL	MDKQGVYVTS
PLVNNFTMHS	DLGKIIQSLL	DEFWKNPPVL	APTSTAFPYL	YSNPSGMSPY
ASQGFPFLPP	YPPQEANRSI	TSLSVADTVS	SSTTSHTTAK	PAAPSFGVLS
NLPLPIPTVD	ASIPTSQNGF	GYKMPDVPDA	FPELSELSVS	QLTDMNEQEE
VLLEQFLTLP	QLKQIITDKD	DLVKSIEELA	RKNLLLEPSL	EAKRQTVLDK
YELLTQMKST	FEKKMQRQHE	LSESCSASAL	QARLKVAAHE	AEEESDNIAE
DFLEGKMEID	DFLSSFMEKR	TICHCRRAKE	EKLQQAIAMH	SQFHAPL

Klinički značaj[uredi | uredi izvor]

Pokazalo se da misens mutacija (K382N) u proteinu VPS37A uzrokuje kompleksnu nasljednu spazamsku paraparezu (cHSP).^[8]

Reference[uredi | uredi izvor]

^ ^a ^b ^c GRCh38: Ensembl release 89: ENSG00000155975 - Ensembl, maj 2017
^ ^a ^b ^c GRCm38: Ensembl release 89: ENSMUSG00000031600 - 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.
^ "Entrez Gene: Vacuolar protein sorting 37 homolog A (S. cerevisiae)". Pristupljeno 20. 4. 2012.
^ Bache KG, Slagsvold T, Cabezas A, Rosendal KR, Raiborg C, Stenmark H (septembar 2004). "The growth-regulatory protein HCRP1/hVps37A is a subunit of mammalian ESCRT-I and mediates receptor down-regulation". Mol. Biol. Cell. 15 (9): 4337–46. doi:10.1091/mbc.E04-03-0250. PMC 515363. PMID 15240819.
^ "UniProt, Q8NEZ2" (jezik: engleski). Pristupljeno 22. 9. 2021.
^ Zivony-Elboum Y, Westbroek W, Kfir N, Savitzki D, Shoval Y, Bloom A, Rod R, Khayat M, Gross B, Samri W, Cohen H, Sonkin V, Freidman T, Geiger D, Fattal-Valevski A, Anikster Y, Waters AM, Kleta R, Falik-Zaccai TC (juni 2012). "A founder mutation in Vps37A causes autosomal recessive complex hereditary spastic paraparesis". J Med Genet. 49 (7): 462–72. doi:10.1136/jmedgenet-2012-100742. PMID 22717650. S2CID 30471834.

Dopunska literatura[uredi | uredi izvor]

Tsunematsu T, Yamauchi E, Shibata H, Maki M, Ohta T, Konishi H (2010). "Distinct functions of human MVB12A and MVB12B in the ESCRT-I dependent on their posttranslational modifications". Biochemical and Biophysical Research Communications. 399 (2): 232–237. doi:10.1016/j.bbrc.2010.07.060. PMID 20654576.
Levy D, Larson MG, Benjamin EJ, Newton-Cheh C, Wang TJ, Hwang SJ, Vasan RS, Mitchell GF (2007). "Framingham Heart Study 100K Project: Genome-wide associations for blood pressure and arterial stiffness". BMC Medical Genetics. 8: S3. doi:10.1186/1471-2350-8-S1-S3. PMC 1995621. PMID 17903302.
Xu Z, Liang L, Wang H, Li T, Zhao M (2003). "HCRP1, a novel gene that is downregulated in hepatocellular carcinoma, encodes a growth-inhibitory protein". Biochemical and Biophysical Research Communications. 311 (4): 1057–1066. doi:10.1016/j.bbrc.2003.10.109. PMID 14623289.
Eastman SW, Martin-Serrano J, Chung W, Zang T, Paul Bieniasz (2004). "Identification of human VPS37C, a component of ESCRT-I important for viral budding". Journal of Biological Chemistry. 280 (1): 628–636. doi:10.1074/jbc.M410384200. PMID 15509564. Greška u vankuverskom stilu: name u nazivu 5 (pomoć)
Imafuku I, Waragai M, Takeuchi S, Kanazawa I, Kawabata M, Mouradian MM, Okazawa H (1998). "Polar Amino Acid-Rich Sequences Bind to Polyglutamine Tracts". Biochemical and Biophysical Research Communications. 253 (1): 16–20. doi:10.1006/bbrc.1998.9725. PMID 9875212.
Stuchell MD, Garrus JE, Müller B, Stray KM, Ghaffarian S, McKinnon R, Kräusslich HG, Morham SG, Sundquist WI (2004). "The Human Endosomal Sorting Complex Required for Transport (ESCRT-I) and Its Role in HIV-1 Budding". Journal of Biological Chemistry. 279 (34): 36059–36071. doi:10.1074/jbc.M405226200. PMID 15218037.
Lippincott-Schwartz J, Roberts TH, Hirschberg K (2000). "Secretoryproteintrafficking Andorganelledynamics Inlivingcells1". Annual Review of Cell and Developmental Biology. 16: 557–589. doi:10.1146/annurev.cellbio.16.1.557. PMC 4781643. PMID 11031247.

[refGRCh38Ensembl-1] GRCh38: Ensembl release 89: ENSG00000155975 - Ensembl, maj 2017

[refGRCm38Ensembl-2] GRCm38: Ensembl release 89: ENSMUSG00000031600 - 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.

[entrez-5] "Entrez Gene: Vacuolar protein sorting 37 homolog A (S. cerevisiae)". Pristupljeno 20. 4. 2012.

[pmid15240819-6] Bache KG, Slagsvold T, Cabezas A, Rosendal KR, Raiborg C, Stenmark H (septembar 2004). "The growth-regulatory protein HCRP1/hVps37A is a subunit of mammalian ESCRT-I and mediates receptor down-regulation". Mol. Biol. Cell. 15 (9): 4337–46. doi:10.1091/mbc.E04-03-0250. PMC 515363. PMID 15240819.

[UniProt-7] "UniProt, Q8NEZ2" (jezik: engleski). Pristupljeno 22. 9. 2021.

[pmid22717650-8] Zivony-Elboum Y, Westbroek W, Kfir N, Savitzki D, Shoval Y, Bloom A, Rod R, Khayat M, Gross B, Samri W, Cohen H, Sonkin V, Freidman T, Geiger D, Fattal-Valevski A, Anikster Y, Waters AM, Kleta R, Falik-Zaccai TC (juni 2012). "A founder mutation in Vps37A causes autosomal recessive complex hereditary spastic paraparesis". J Med Genet. 49 (7): 462–72. doi:10.1136/jmedgenet-2012-100742. PMID 22717650. S2CID 30471834.

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