Idi na sadržaj

VPS37A

S Wikipedije, slobodne enciklopedije
VPS37A
Identifikatori
AliasiVPS37A
Vanjski ID-jeviOMIM: 609927 MGI: 1261835 HomoloGene: 45120 GeneCards: VPS37A
Lokacija gena (čovjek)
Hromosom 8 (čovjek)
Hrom.Hromosom 8 (čovjek)[1]
Hromosom 8 (čovjek)
Genomska lokacija za VPS37A
Genomska lokacija za VPS37A
Bend8p22Početak17,246,571 bp[1]
Kraj17,302,427 bp[1]
Lokacija gena (miš)
Hromosom 8 (miš)
Hrom.Hromosom 8 (miš)[2]
Hromosom 8 (miš)
Genomska lokacija za VPS37A
Genomska lokacija za VPS37A
Bend8 A4|8 23.89 cMPočetak40,511,783 bp[2]
Kraj40,551,134 bp[2]
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
VrsteČovjekMiš
Entrez
Ensembl
UniProt
RefSeq (mRNK)

NM_001145152
NM_152415

NM_033560

RefSeq (bjelančevina)
NP_001138624
NP_689628
NP_001350096
NP_001350097
NP_001350098

NP_001350099
NP_001350100
NP_001350101
NP_001350102

NP_291038

Lokacija (UCSC)Chr 8: 17.25 – 17.3 MbChr 8: 40.51 – 40.55 Mb
PubMed pretraga[3][4]
Wikipodaci
Pogledaj/uredi – čovjekPogledaj/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]

1020304050
MSWLFPLTKSASSSAAGSPGGLTSLQQQKQRLIESLRNSHSSIAEIQKDV
EYRLPFTINNLTININILLPPQFPQEKPVISVYPPIRHHLMDKQGVYVTS
PLVNNFTMHSDLGKIIQSLLDEFWKNPPVLAPTSTAFPYLYSNPSGMSPY
ASQGFPFLPPYPPQEANRSITSLSVADTVSSSTTSHTTAKPAAPSFGVLS
NLPLPIPTVDASIPTSQNGFGYKMPDVPDAFPELSELSVSQLTDMNEQEE
VLLEQFLTLPQLKQIITDKDDLVKSIEELARKNLLLEPSLEAKRQTVLDK
YELLTQMKSTFEKKMQRQHELSESCSASALQARLKVAAHEAEEESDNIAE
DFLEGKMEIDDFLSSFMEKRTICHCRRAKEEKLQQAIAMHSQFHAPL

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]
  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000155975 - Ensembl, maj 2017
  2. ^ a b c 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.
  5. ^ "Entrez Gene: Vacuolar protein sorting 37 homolog A (S. cerevisiae)". Pristupljeno 20. 4. 2012.
  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.
  7. ^ "UniProt, Q8NEZ2" (jezik: engleski). Pristupljeno 22. 9. 2021.
  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.

Dopunska literatura

[uredi | uredi izvor]