STX1A

S Wikipedije, slobodne enciklopedije
STX1A
Identifikatori
AliasiSTX1A
Vanjski ID-jeviOMIM: 186590 MGI: 109355 HomoloGene: 37941 GeneCards: STX1A
Lokacija gena (čovjek)
Hromosom 7 (čovjek)
Hrom.Hromosom 7 (čovjek)[1]
Hromosom 7 (čovjek)
Genomska lokacija za STX1A
Genomska lokacija za STX1A
Bend7q11.23Početak73,699,206 bp[1]
Kraj73,719,672 bp[1]
Lokacija gena (miš)
Hromosom 5 (miš)
Hrom.Hromosom 5 (miš)[2]
Hromosom 5 (miš)
Genomska lokacija za STX1A
Genomska lokacija za STX1A
Bend5|5 G2Početak135,052,336 bp[2]
Kraj135,079,954 bp[2]
Obrazac RNK ekspresije
Više referentnih podataka o ekspresiji
Ontologija gena
Molekularna funkcija calcium channel inhibitor activity
transmembrane transporter binding
protein N-terminus binding
SNAP receptor activity
kinase binding
chloride channel inhibitor activity
protein heterodimerization activity
SNARE binding
GO:0001948, GO:0016582 vezivanje za proteine
myosin binding
protein domain specific binding
protein-macromolecule adaptor activity
myosin head/neck binding
ATP-dependent protein binding
calcium-dependent protein binding
Ćelijska komponenta integral component of membrane
citosol
membrana
Sinapsna vezikula
synaptobrevin 2-SNAP-25-syntaxin-1a-complexin II complex
voltage-gated potassium channel complex
ćelijska membrana
sinapsa
synaptic vesicle membrane
secretory granule
extracellular region
synaptobrevin 2-SNAP-25-syntaxin-1a-complexin I complex
međućelijske veze
SNARE complex
intracellular organelle
neuron projection
synaptobrevin 2-SNAP-25-syntaxin-1a complex
actomyosin
GO:0016023 citoplazmatska vezikula
presynaptic membrane
GO:0097483, GO:0097481 postsynaptic density
presynaptic active zone membrane
Jedarna membrana
integral component of plasma membrane
Akson
GO:0009327 makromolekulani kompleks
Akrozom
integral component of synaptic vesicle membrane
glutamatergic synapse
integral component of presynaptic membrane
Endomembranski sistem
intracellular anatomical structure
Biološki proces Egzocitoza
positive regulation of norepinephrine secretion
synaptic vesicle docking
secretion by cell
regulation of insulin secretion
positive regulation of catecholamine secretion
positive regulation of neurotransmitter secretion
positive regulation of calcium ion-dependent exocytosis
regulation of exocytosis
response to gravity
vesicle docking
positive regulation of excitatory postsynaptic potential
positive regulation of exocytosis
intracellular protein transport
neurotransmitter transport
vesicle-mediated transport
calcium-ion regulated exocytosis
regulation of synaptic vesicle priming
protein localization to membrane
modulation of excitatory postsynaptic potential
synaptic vesicle fusion to presynaptic active zone membrane
SNARE complex assembly
cytokine-mediated signaling pathway
synaptic vesicle exocytosis
Fuzija vezikula
GO:0010554 neurotransmitter secretion
glutamate secretion
protein sumoylation
insulin secretion
regulated exocytosis
hormone secretion
synaptic vesicle endocytosis
membrane fusion
Izvori:Amigo / QuickGO
Ortolozi
VrsteČovjekMiš
Entrez
Ensembl
UniProt
RefSeq (mRNK)

NM_001165903
NM_004603

NM_016801
NM_001359179

RefSeq (bjelančevina)

NP_001159375
NP_004594
NP_004594.1

NP_058081
NP_001346108

Lokacija (UCSC)Chr 7: 73.7 – 73.72 MbChr 5: 135.05 – 135.08 Mb
PubMed pretraga[3][4]
Wikipodaci
Pogledaj/uredi – čovjekPogledaj/uredi – miš

Sintaksin-1A jest protein koji je kod ljudi kodiran genom STX1A sa hromosoma 7.[5]

Aminokiselinska sekvenca[uredi | uredi izvor]

Dužina polipeptidnog lanca je 288 aminokiselina, a molekulska težina 33.023 Da [6]

1020304050
MKDRTQELRTAKDSDDDDDVAVTVDRDRFMDEFFEQVEEIRGFIDKIAEN
VEEVKRKHSAILASPNPDEKTKEELEELMSDIKKTANKVRSKLKSIEQSI
EQEEGLNRSSADLRIRKTQHSTLSRKFVEVMSEYNATQSDYRERCKGRIQ
RQLEITGRTTTSEELEDMLESGNPAIFASGIIMDSSISKQALSEIETRHS
EIIKLENSIRELHDMFMDMAMLVESQGEMIDRIEYNVEHAVDYVERAVSD
TKKAVKYQSKARRKKIMIIICCVILGIVIASTVGGIFA

Funkcija[uredi | uredi izvor]

Sinapsne vezikule skladište neurotransmiter koji se oslobađa tokom kalcijem regulisane egzocitoze. Specifičnost oslobađanja neurotransmitera zahteva lokalizaciju sinapsnih vezikula i kalcijskih kanala u aktivnu presinapsnu zonu. Sintaksini funkcionišu u ovom procesu fuzije vezikula.

Sintaksin-1A je član natšprodice sintaksin. Sintaksini su proteini specifični za nervni sistem uključeni u spajanje sinapsnih vezikula sa presinapsnom plazmamembranom. Sintaksini posjeduju jedan C-terminalni transmembranski domen, SNARE (Soluble NSF N-etilmaleimid-sensitive fuzion protein)-Attachment protein Receptor) domen (poznat kao H3), i N-terminalni regulatorni domen (Habc). Sintaksini se vezuju za sinaptotagmin na način ovisan o kalciju i stupaju u interakciju sa naponskim zavisnim kalcijevim i kalijevim kanalima preko C-terminalnog H3 domena. Sintaksin-1A je ključni protein u regulaciji ionskih kanala i sinapsnoj egzocitozi.[7]

Klinički značaj[uredi | uredi izvor]

Sintaksini služe kao supstrat za botulinumski neurotoksin tipa C, metaloproteazu koja blokira egzocitozu i ima visok afinitet za molekulski kompleks koji uključuje alfa-latrotoksinski receptor koji proizvodi eksplozivnu egzocitozu.[8]

Nivo ekspresije STX1A je u direktnoj korelaciji sa inteligencijom u Williamsovom sindromu.[9]

Interaktivna mapa puta[uredi | uredi izvor]

Šablon:NicotineDopaminergicActivity WP1602

Interakcije[uredi | uredi izvor]

Pokazalo se da STX1A reaguje sa:

Također pogledajte[uredi | uredi izvor]

Reference[uredi | uredi izvor]

  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000106089 - Ensembl, maj 2017
  2. ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000007207 - 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. ^ Bennett MK, Calakos N, Scheller RH (juli 1992). "Syntaxin: a synaptic protein implicated in docking of synaptic vesicles at presynaptic active zones". Science. 257 (5067): 255–9. Bibcode:1992Sci...257..255B. doi:10.1126/science.1321498. PMID 1321498.
  6. ^ "UniProt, Q16623" (jezik: engleski). Pristupljeno 12. 4. 2022.
  7. ^ "Entrez Gene: STX1A syntaxin 1A (brain)".
  8. ^ Zhang R, Maksymowych AB, Simpson LL (juli 1995). "Cloning and sequence analysis of a cDNA encoding human syntaxin 1A, a polypeptide essential for exocytosis". Gene. 159 (2): 293–4. doi:10.1016/0378-1119(95)00152-V. PMID 7622072.
  9. ^ Gao MC, Bellugi U, Dai L, Mills DL, Sobel EM, Lange K, Korenberg JR (2010). Toland AE (ured.). "Intelligence in Williams Syndrome is related to STX1A, which encodes a component of the presynaptic SNARE complex". PLOS ONE. 5 (4): e10292. Bibcode:2010PLoSO...510292G. doi:10.1371/journal.pone.0010292. PMC 2858212. PMID 20422020.
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Dopunska literatura[uredi | uredi izvor]

Vanjski linkovi[uredi | uredi izvor]

Šablon:Proteini vezikulskog transporta Ovaj članak uključuje tekst iz Nacionalne medicinske biblioteke Sjedinjenih Država, koji je u javnom vlasništvu.