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1O94949_HUMAN*   Trembl (?) | Description Local Annotation Link Reference
General Information
DescriptionKiaa0872 protein (fragment).
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.
InterPro domains unassigned to SynO:
The sequence of a 6.8kb DNA fragment from Saccharomyces cerevisiae chromosome VII has been analysed . The sequence was found to contain five open reading frames (ORFs) greater than 100 amino acids in length. One of these (a 73.5kDa protein) shares similarity with the 58.0kDa SPAC1D4.03C from Schizosaccharomyces pombe.nd with hypothetical proteins from Homo sapiens.rosophila melanogaster.aenorhabditis elegans and Fugu rubripes. The sequences are characterised by a variable N-terminal domain and a more conserved C-terminal domain. Members of this family.lthough uncharacterised have been referred to as SAND proteins ; though they do not contain a SAND domain. The members of this family are 500-600 amino acids long and contain several conserved motifs. This family has recently been implicated in protein-vacuolar targeting .nd orthologues have been described in Fugu rubripes .
  IPR004353:Protein of unknown function DUF254, SAND
SequencesProtein: O94949_HUMAN (552 aa)
mRNA: NM_014940
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: 107 residues, 75782336-75782656Exon2: 54 residues, 75782873-75783031Exon3: 111 residues, 75784848-75785175Exon4: 275 residues, 75785732-75786552Exon5: 51 residues, 75786932-75787080Exon6: 514 residues, 75789505-75791042Exon7: 2 residues, -Jump to O94949_HUMANExon1: 396 residues, 75785365-75786552Exon2: 51 residues, 75786932-75787080Exon3: 511 residues, 75789505-75791034Exon4: 2 residues, -Jump to Q6ZR87_HUMAN  
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Loci Cluster (Details)Loci: 4238 75873928-76026512 ~-153K 14550(ADAMTS18)(-)Loci: 2954 75782336-75791042 ~-9K 14547(+)Link out to UCSC