VAPB

(Preusmjereno sa VAMP)

VAPB je protein koji je kod ljudi kodiran genom VAPB.[5][6] Zajedno s VAPA, on čini Vap porodicu proteina.

VAPB
Dostupne strukture
PDBPretraga ortologa: PDBe RCSB
Spisak PDB ID kodova

2MDK, 3IKK

Identifikatori
AliasiVAPB
Vanjski ID-jeviOMIM: 605704 MGI: 1928744 HomoloGene: 36163 GeneCards: VAPB
Lokacija gena (čovjek)
Hromosom 20 (čovjek)
Hrom.Hromosom 20 (čovjek)[1]
Hromosom 20 (čovjek)
Genomska lokacija za VAPB
Genomska lokacija za VAPB
Bend20q13.32Početak58,389,229 bp[1]
Kraj58,451,101 bp[1]
Lokacija gena (miš)
Hromosom 2 (miš)
Hrom.Hromosom 2 (miš)[2]
Hromosom 2 (miš)
Genomska lokacija za VAPB
Genomska lokacija za VAPB
Bend2 H4|2 97.37 cMPočetak173,579,304 bp[2]
Kraj173,626,132 bp[2]
Obrazac RNK ekspresije


Više referentnih podataka o ekspresiji
Ontologija gena
Molekularna funkcija protein homodimerization activity
microtubule binding
GO:0001948, GO:0016582 protein binding
beta-tubulin binding
protein heterodimerization activity
enzyme binding
cadherin binding
FFAT motif binding
Ćelijska komponenta integral component of membrane
Golđijev aparat
endoplasmic reticulum membrane
membrana
Endoplazmatski retikulum
endoplasmic reticulum exit site
Golđijeva membrana
citoplazma
Biološki proces COPII-coated vesicle budding
cellular calcium ion homeostasis
sphingolipid biosynthetic process
endoplasmic reticulum organization
positive regulation by host of viral genome replication
endoplasmic reticulum unfolded protein response
endoplasmic reticulum to Golgi vesicle-mediated transport
response to unfolded protein
suppression of viral release by host
negative regulation by host of viral genome replication
positive regulation of viral genome replication
negative regulation by virus of viral protein levels in host cell
GO:0022415 viral process
modulation by host of viral RNA genome replication
IRE1-mediated unfolded protein response
Izvori:Amigo / QuickGO
Ortolozi
VrsteČovjekMiš
Entrez
Ensembl
UniProt
RefSeq (mRNK)

NM_001195677
NM_004738

NM_019806

RefSeq (bjelančevina)

NP_001182606
NP_004729

NP_062780

Lokacija (UCSC)Chr 20: 58.39 – 58.45 MbChr 2: 173.58 – 173.63 Mb
PubMed pretraga[3][4]
Wikipodaci
Pogledaj/uredi – čovjekPogledaj/uredi – miš

Funkcija uredi

Protein koji kodira ovaj gen je membranski protein tipa IV, koji se nalazi u plazmamembrani i unutarćelijskih vezikula. Kodirani protein nalazi se kao homodimer i kao heterodimer sa VAPA. Ovaj protein također može komunicirati s VAMP1 i VAMP2 i može biti uključen u promet vezikulq.[6]

Poput VAPA, VAPB veže se za proteine koji sadrže motiv FFAT.[7] Znatan interes za VAPB pojavio se jer su mutacije ovog proteina povezane sa rijetkim, porodičnim oblicima bolesti motornog neurona (zvanih i amiotrofna lateralna skleroza i Lou Gehrigova bolest).[8]

Aminokiselinska sekvenca uredi

Simboli
1020304050
MAKVEQVLSLEPQHELKFRGPFTDVVTTNLKLGNPTDRNVCFKVKTTAPR
RYCVRPNSGIIDAGASINVSVMLQPFDYDPNEKSKHKFMVQSMFAPTDTS
DMEAVWKEAKPEDLMDSKLRCVFELPAENDKPHDVEINKIISTTASKTET
PIVSKSLSSSLDDTEVKKVMEECKRLQGEVQRLREENKQFKEEDGLRMRK
TVQSNSPISALAPTGKEEGLSTRLLALVVLFFIVGVIIGKIAL

Reference uredi

  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000124164 - Ensembl, maj 2017
  2. ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000054455 - 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. ^ Nishimura Y, Hayashi M, Inada H, Tanaka T (Jan 1999). "Molecular cloning and characterization of mammalian homologues of vesicle-associated membrane protein-associated (VAMP-associated) proteins". Biochemical and Biophysical Research Communications. 254 (1): 21–6. doi:10.1006/bbrc.1998.9876. PMID 9920726.
  6. ^ a b "Entrez Gene: VAPB VAMP (vesicle-associated membrane protein)-associated protein B and C".
  7. ^ Loewen CJ, Roy A, Levine TP (maj 2003). "A conserved ER targeting motif in three families of lipid binding proteins and in Opi1p binds VAP". The EMBO Journal. 22 (9): 2025–35. doi:10.1093/emboj/cdg201. PMC 156073. PMID 12727870.
  8. ^ Nishimura AL, Mitne-Neto M, Silva HC, Richieri-Costa A, Middleton S, Cascio D, Kok F, Oliveira JR, Gillingwater T, Webb J, Skehel P, Zatz M (Nov 2004). "A mutation in the vesicle-trafficking protein VAPB causes late-onset spinal muscular atrophy and amyotrophic lateral sclerosis". American Journal of Human Genetics. 75 (5): 822–31. doi:10.1086/425287. PMC 1182111. PMID 15372378.

Dopunska literatura uredi