UniProt functional annotation for P63027



	UniProt functional annotation for P63027

UniProt codes: P63027, P19065.

Organism: Homo sapiens (Human).

Taxonomy: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo.

Function: Involved in the targeting and/or fusion of transport vesicles to their target membrane (By similarity). Major SNARE protein of synaptic vesicles which mediates fusion of synaptic vesicles to release neurotransmitters. Essential for fast vesicular exocytosis and activity-dependent neurotransmitter release as well as fast endocytosis that mediates rapid reuse of synaptic vesicles (By similarity) (PubMed:30929742). Modulates the gating characteristics of the delayed rectifier voltage-dependent potassium channel KCNB1. {ECO:0000250|UniProtKB:P63044, ECO:0000250|UniProtKB:P63045, ECO:0000269|PubMed:30929742}.

Subunit: Part of the SNARE core complex containing SNAP25, VAMP2 and STX1A. This complex binds to CPLX1. Interacts with BVES and STX4 (By similarity). Interacts with VAPA and VAPB. Interacts with WDFY2, PRKCZ and PRKCI (PubMed:17313651). Forms a complex with WDFY2 and PRKCZ (PubMed:17313651). Interacts (via N-terminus) with KCNB1 (via N- terminus and C-terminus); stimulates the channel inactivation rate of KCNB1 (By similarity). Interacts with SEPT8; the interaction inhibits interaction of VAMP2 with SYP. Interacts with SYP; the interaction is inhibited by interaction with SEPT8 (By similarity). Interacts with PICALM (PubMed:22118466, PubMed:21808019). Interacts with alpha- synuclein/SNCA (PubMed:20798282). Interacts with STX3 (By similarity). {ECO:0000250|UniProtKB:P63044, ECO:0000250|UniProtKB:P63045, ECO:0000269|PubMed:17313651, ECO:0000269|PubMed:20798282, ECO:0000269|PubMed:21808019, ECO:0000269|PubMed:22118466}.

Subcellular location: Cytoplasmic vesicle, secretory vesicle, synaptic vesicle membrane {ECO:0000269|PubMed:17313651}; Single-pass type IV membrane protein {ECO:0000255}. Cell membrane {ECO:0000250|UniProtKB:P63045}. Note=Colocalizes with PRKCZ and WDFY2 in intracellular vesicles (PubMed:17313651). {ECO:0000269|PubMed:17313651}.

Tissue specificity: Nervous system and skeletal muscle. {ECO:0000269|PubMed:8760387}.

Ptm: Phosphorylated by PRKCZ in vitro and this phosphorylation is increased in the presence of WDFY2. {ECO:0000269|PubMed:17313651}.

Ptm: (Microbial infection) Targeted and hydrolyzed by C.botulinum neurotoxin type B (BoNT/B, botB) which hydrolyzes the 76-Gln-|-Phe-77 bond and probably inhibits neurotransmitter release (PubMed:7803399). {ECO:0000269|PubMed:7803399, ECO:0000305|PubMed:22289120}.

Ptm: (Microbial infection) Targeted and hydrolyzed by C.botulinum neurotoxin type D (BoNT/D, botD) which probably hydrolyzes the 59- Lys-|-Leu-60 bond and inhibits neurotransmitter release (PubMed:22289120). Note that humans are not known to be infected by C.botulinum type D. {ECO:0000269|PubMed:22289120, ECO:0000305, ECO:0000305|PubMed:22289120}.

Ptm: (Microbial infection) Targeted and hydrolyzed by C.botulinum neurotoxin type F (BoNT/F, botF) which hydrolyzes the 58-Gln-|-Lys-59 bond and probably inhibits neurotransmitter release (PubMed:19543288). {ECO:0000305|PubMed:19543288, ECO:0000305|PubMed:22289120}.

Ptm: (Microbial infection) Targeted and hydrolyzed by C.tetani tetanus toxin (tetX) which hydrolyzes the 76-Gln-|-Phe-77 bond and probably inhibits neurotransmitter release (PubMed:7803399). {ECO:0000269|PubMed:7803399}.

Disease: Neurodevelopmental disorder with hypotonia and autistic features with or without hyperkinetic movements (NEDHAHM) [MIM:618760]: An autosomal dominant disorder characterized by axial hypotonia apparent at birth, global developmental delay, intellectual disability, seizures, and autistic features. Involuntary hyperkinetic movements are present in some patients. {ECO:0000269|PubMed:30929742}. Note=The disease is caused by variants affecting the gene represented in this entry.

Similarity: Belongs to the synaptobrevin family. {ECO:0000305}.

Annotations taken from UniProtKB at the EBI.


Organism:		Homo sapiens (Human).
Taxonomy:		Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo.



Function:		Involved in the targeting and/or fusion of transport vesicles to their target membrane (By similarity). Major SNARE protein of synaptic vesicles which mediates fusion of synaptic vesicles to release neurotransmitters. Essential for fast vesicular exocytosis and activity-dependent neurotransmitter release as well as fast endocytosis that mediates rapid reuse of synaptic vesicles (By similarity) (PubMed:30929742). Modulates the gating characteristics of the delayed rectifier voltage-dependent potassium channel KCNB1. {ECO:0000250\|UniProtKB:P63044, ECO:0000250\|UniProtKB:P63045, ECO:0000269\|PubMed:30929742}.


Subunit:		Part of the SNARE core complex containing SNAP25, VAMP2 and STX1A. This complex binds to CPLX1. Interacts with BVES and STX4 (By similarity). Interacts with VAPA and VAPB. Interacts with WDFY2, PRKCZ and PRKCI (PubMed:17313651). Forms a complex with WDFY2 and PRKCZ (PubMed:17313651). Interacts (via N-terminus) with KCNB1 (via N- terminus and C-terminus); stimulates the channel inactivation rate of KCNB1 (By similarity). Interacts with SEPT8; the interaction inhibits interaction of VAMP2 with SYP. Interacts with SYP; the interaction is inhibited by interaction with SEPT8 (By similarity). Interacts with PICALM (PubMed:22118466, PubMed:21808019). Interacts with alpha- synuclein/SNCA (PubMed:20798282). Interacts with STX3 (By similarity). {ECO:0000250\|UniProtKB:P63044, ECO:0000250\|UniProtKB:P63045, ECO:0000269\|PubMed:17313651, ECO:0000269\|PubMed:20798282, ECO:0000269\|PubMed:21808019, ECO:0000269\|PubMed:22118466}.
Subcellular location:		Cytoplasmic vesicle, secretory vesicle, synaptic vesicle membrane {ECO:0000269\|PubMed:17313651}; Single-pass type IV membrane protein {ECO:0000255}. Cell membrane {ECO:0000250\|UniProtKB:P63045}. Note=Colocalizes with PRKCZ and WDFY2 in intracellular vesicles (PubMed:17313651). {ECO:0000269\|PubMed:17313651}.
Tissue specificity:		Nervous system and skeletal muscle. {ECO:0000269\|PubMed:8760387}.
Ptm:		Phosphorylated by PRKCZ in vitro and this phosphorylation is increased in the presence of WDFY2. {ECO:0000269\|PubMed:17313651}.
Ptm:		(Microbial infection) Targeted and hydrolyzed by C.botulinum neurotoxin type B (BoNT/B, botB) which hydrolyzes the 76-Gln-\|-Phe-77 bond and probably inhibits neurotransmitter release (PubMed:7803399). {ECO:0000269\|PubMed:7803399, ECO:0000305\|PubMed:22289120}.
Ptm:		(Microbial infection) Targeted and hydrolyzed by C.botulinum neurotoxin type D (BoNT/D, botD) which probably hydrolyzes the 59- Lys-\|-Leu-60 bond and inhibits neurotransmitter release (PubMed:22289120). Note that humans are not known to be infected by C.botulinum type D. {ECO:0000269\|PubMed:22289120, ECO:0000305, ECO:0000305\|PubMed:22289120}.
Ptm:		(Microbial infection) Targeted and hydrolyzed by C.botulinum neurotoxin type F (BoNT/F, botF) which hydrolyzes the 58-Gln-\|-Lys-59 bond and probably inhibits neurotransmitter release (PubMed:19543288). {ECO:0000305\|PubMed:19543288, ECO:0000305\|PubMed:22289120}.
Ptm:		(Microbial infection) Targeted and hydrolyzed by C.tetani tetanus toxin (tetX) which hydrolyzes the 76-Gln-\|-Phe-77 bond and probably inhibits neurotransmitter release (PubMed:7803399). {ECO:0000269\|PubMed:7803399}.
Disease:		Neurodevelopmental disorder with hypotonia and autistic features with or without hyperkinetic movements (NEDHAHM) [MIM:618760]: An autosomal dominant disorder characterized by axial hypotonia apparent at birth, global developmental delay, intellectual disability, seizures, and autistic features. Involuntary hyperkinetic movements are present in some patients. {ECO:0000269\|PubMed:30929742}. Note=The disease is caused by variants affecting the gene represented in this entry.
Similarity:		Belongs to the synaptobrevin family. {ECO:0000305}.