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1Q4G0Y1_HUMAN*   Trembl (?) | Description Local Annotation Link Reference
General Information
DescriptionHypothetical protein.
SpeciesHomo sapiens (NCBI taxonomy ID: 9606)
Domain Architecture (Details)
InterPro domains assigned to SynO:
VAMPs (and its homologue synaptobrevins) define a group of SNARE proteins that contain a C-terminal coiled-coil/SNARE motif.n combination with variable N-terminal domains that are used to classify VAMPs: those containing longin N-terminal domains (~150 aa) are referred to as longins.hile those with shorter N-termini are referred to as brevins . Longins are the only type of VAMP protein found in all eukaryotes.uggesting that their longin domain is essential. The longin domain is thought to exert a regulatory function. Longin domains have been shown to share the same structural fold. profilin-like globular domain consisting of a five-stranded antiparallel beta-sheet that is sandwiched by an alpha-helix on one side.nd two alpha-helices on the other (beta(2)-alpha-beta(3)-alpha(2)).Other families have been shown to contain domains that structurally resemble the VAMP longin domain. An example is the eukaryotic conserved protein.EDL.hich is a component of the transport protein particle (TRAPP).ritically involved in endoplasmic reticulum-to-Golgi vesicle transport; mutations in the SEDL gene are associated with an X-linked skeletal disorder.pondyloepiphyseal dysplasia tarda . Another example is the assembly domain of clathrin coat proteins.uch as Mu2 adaptin (AP50) and Sigma2 adaptin (AP17).hich structurally resemble the longin domain. AP50 and AP17 are two of the proteins that make up the core of AP2. complex that functions in clathrin-mediated endocytosis .The SSF signature in this entry is currently under review. Please be aware that some of the protein hits may be false positives.
SequencesProtein: Q4G0Y1_HUMAN (622 aa)
mRNA: NM_001033659
Local Annotation
Synapse Ontology
transport of vesicles in the presynaptic neuron
sdb:0017 Mobilization: synapsins, CAM kinase I  (Evidence:domains)
Fusion of intracellular membrane-bound vesicles with the pre-synaptic membrane of the neuronal cell resulting in release of neurotransmitter into the synaptic cleft.
sdb:0049 synaptic vesicle fusion  (Evidence:domains)
priming for exocytosis prepares the calcium-dependent release and may involve partial fusion process. The vesicles are primed and become responsive to calcium.
sdb:0120 priming  (Evidence:domains)
attachment of the vesicle filled with transmitters involves a specific interaction between the vesicle membrane and the presynaptic active zone.
sdb:0148 docking  (Evidence:domains)
KO assignmentNot mapped to KEGG
Loci Structure (Details)Loci index, Chromosomal location, Length, Possible relational loci clusterExon1: 124 residues, 40098011-40098382Exon2: 621 residues, 40099269-40101127Exon3: 615 residues, 40102276-40104116Exon4: 2 residues, -Jump to Q4G0Y1_HUMAN  
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Loci Cluster (Details)Loci: 4294 39509646-39556540 ~-47K 15975(HDAC5)(-)Loci: 4295 39682565-39700993 ~-18K 15992(SLC4A1)(-)Loci: 4296 39752520-39757666 ~-5K 15997(-)Loci: 3010 40098011-40104116 ~-6K 16007(+)Loci: 4297 40237112-40263147 ~-26K 16016(GJA7)(-)Loci: 4298 40338518-40348394 ~-10K 16022(GFAP)(-)Loci: 3009 39437557-39441961 ~-4K 15971(NAGS)(+)Link out to UCSC