P08247B2R7L6B7Z359Q6P2F7SYPH_HUMANSynaptophysinMajor synaptic vesicle protein p38SYPHomo sapiensHumanEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomoThe cDNA and derived amino acid sequences for rat and human synaptophysin.NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1)Synaptophysin: structure of the human gene and assignment to the X chromosome in man and mouse.NUCLEOTIDE SEQUENCE [GENOMIC DNA]Sequence-based exon prediction around the synaptophysin locus reveals a gene-rich area containing novel genes in human proximal Xp.NUCLEOTIDE SEQUENCE [GENOMIC DNA]Complete sequencing and characterization of 21,243 full-length human cDNAs.NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 1 AND 2)The DNA sequence of the human X chromosome.NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA]NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA]The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1)Disappearance of actin-binding protein, drebrin, from hippocampal synapses in Alzheimer's disease.TISSUE SPECIFICITYSept4, a component of presynaptic scaffold and Lewy bodies, is required for the suppression of alpha-synuclein neurotoxicity.TISSUE SPECIFICITYCharacterization of a multidomain adaptor protein, p140Cap, as part of a pre-synaptic complex.INTERACTION WITH SRCIN1SUBCELLULAR LOCATIONA systematic, large-scale resequencing screen of X-chromosome coding exons in mental retardation.VARIANTS XLID96 ARG-217; GLU-277 AND SER-293VARIANTS [LARGE SCALE ANALYSIS] GLN-2; LEU-158; ASN-166 AND ASN-248Loss-of-function and gain-of-function mutations in KCNQ5 cause intellectual disability or epileptic encephalopathy.VARIANT GLN-72Possibly involved in structural functions as organizing other membrane components or in targeting the vesicles to the plasma membrane. Involved in the regulation of short-term and long-term synaptic plasticity (By similarity).Homohexamer or homotetramer. Interacts with SRCIN1 (PubMed:18662323). Interacts with VAMP2; the interaction is inhibit by interaction of VAPM2 with SEPT8 (By similarity).P08247P05067false3P08247P53365false3P08247O75155false3P08247O95971false3P08247Q9NR28false3P08247O95363false3P08247P39905-3false3P08247Q9UBD0false3P08247P42858false13P08247Q8TAC2false3P08247P13473-2false3P08247Q9C0E8-2false3P08247Q9NQG6false3P08247Q96C03-3false3P08247Q6IN84false3P08247Q96E11false3P08247Q96E29false3P08247Q9HB07false3P08247Q9ULP0-2false3P08247Q96AL5false5P08247Q9UKF7-2false3P08247O60664false3P08247Q96T60false3P08247P30405false5P08247O75127false3P08247P43378false3P08247Q8N0V3false3P08247Q9Y371false6P08247Q9H0W8false3P08247Q13596false3P08247Q9NZD8false3P08247O60225-2false3P08247Q96DR4false3P08247Q8WY91false3P08247Q13885false3P08247A0A384ME17false3P08247Q96P53false3P08247Q9Y4P8-4false3Cytoplasmic vesicleSecretory vesicleSynaptic vesicle membraneMulti-pass membrane proteinSynapseSynaptosomeP08247-11P08247-22Expressed in the brain, with expression in the hippocampus, the neuropil in the dentate gyrus, where expression is higher in the outer half of the molecular layer than in the inner half, and in the neuropil of CA4 and CA3 (PubMed:8838578). Expressed in the putamen (at protein level) (PubMed:17296554).The calcium-binding activity is thought to be localized in the cytoplasmic tail of the protein.Ubiquitinated; mediated by SIAH1 or SIAH2 and leading to its subsequent proteasomal degradation.Phosphorylated by SRC.Intellectual developmental disorder, X-linked 96
XLID96
A disorder characterized by significantly below average general intellectual functioning associated with impairments in adaptive behavior and manifested during the developmental period.The disease is caused by variants affecting the gene represented in this entry.Belongs to the synaptophysin/synaptobrevin family.Synaptophysin entryAlternative splicingCalciumCytoplasmic vesicleDisease variantGlycoproteinIntellectual disabilityMembranePhosphoproteinReference proteomeRepeatSynapseSynaptosomeTransmembraneTransmembrane helixUbl conjugationLQEQSLDNGRDNDEGSPLMLLLADMDVVNQLVAGGQFRVVKEPLGFVKVLQWVFAIFAFATCGSYSGELQLSVDCANKTESDLSIEVEFEYPFRLHQVYFDAPTCRGGTTKVFLVGDYSSSAEFFVTVAVFAFLYSMGALATYIFLQNKYRENNKGPMLDFLATAVFAFMWLVSSSAWAKGLSDVKMATDPENIIKEMPVCRQTGNTCKELRDPVTSGLNTSVVFGFLNLVLWVGNLWFVFKETGWAAPFLRAPPGAPEKQPAPGDAYGDAGYGQGPGGYGPQDSYGPQGGYQPDYGQPAGSGGSGYGPQGDYGQQGYGPQGAPTSFSNQM
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