Format

Send to:

Choose Destination

Links from PubMed

    • Showing Current items.

    SYP synaptophysin [ Homo sapiens (human) ]

    Gene ID: 6855, updated on 12-Mar-2017
    Official Symbol
    SYPprovided by HGNC
    Official Full Name
    synaptophysinprovided by HGNC
    Primary source
    HGNC:HGNC:11506
    See related
    Ensembl:ENSG00000102003 MIM:313475; Vega:OTTHUMG00000034557
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    MRX96; MRXSYP
    Summary
    This gene encodes an integral membrane protein of small synaptic vesicles in brain and endocrine cells. The protein also binds cholesterol and is thought to direct targeting of vesicle-associated membrane protein 2 (synaptobrevin) to intracellular compartments. Mutations in this gene are associated with X-linked mental retardation (XLMR). [provided by RefSeq, Aug 2011]
    Orthologs
    Location:
    Xp11.23
    Exon count:
    7
    Annotation release Status Assembly Chr Location
    108 current GRCh38.p7 (GCF_000001405.33) X NC_000023.11 (49187812..49200202, complement)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) X NC_000023.10 (49044263..49056661, complement)

    Chromosome X - NC_000023.11Genomic Context describing neighboring genes Neighboring gene MAGI family member, X-linked Neighboring gene prickle planar cell polarity protein 3 Neighboring gene proteolipid protein 2 Neighboring gene SYP antisense RNA 1 Neighboring gene calcium voltage-gated channel subunit alpha1 F Neighboring gene heat shock protein family B (small) member 1 pseudogene 2

    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Jun 15 11:32:44 2016

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    Protein interactions

    Protein Gene Interaction Pubs
    Tat tat Creatine inhibits HIV-1 Tat-induced downregulation of synaptophysin in neuron cells PubMed

    Go to the HIV-1, Human Interaction Database

    • Synaptic Vesicle Pathway, organism-specific biosystem (from WikiPathways)
      Synaptic Vesicle Pathway, organism-specific biosystemPathway depicting synaptic transmission of neurotransmitters from the presynaptic nerve terminal to the synaptic cleft upon depolarization. Synaptotagmin mediated transport along the nerve cell cytos...
    Products Interactant Other Gene Complex Source Pubs Description

    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    SH2 domain binding IEA
    Inferred from Electronic Annotation
    more info
     
    cholesterol binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    identical protein binding IEA
    Inferred from Electronic Annotation
    more info
     
    protein self-association TAS
    Traceable Author Statement
    more info
    PubMed 
    transporter activity IEA
    Inferred from Electronic Annotation
    more info
     
    Process Evidence Code Pubs
    cellular response to organic substance IEA
    Inferred from Electronic Annotation
    more info
     
    endocytosis ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    regulation of long-term neuronal synaptic plasticity ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    regulation of neuronal synaptic plasticity IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    regulation of opioid receptor signaling pathway ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    regulation of short-term neuronal synaptic plasticity ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    synaptic vesicle endocytosis IEA
    Inferred from Electronic Annotation
    more info
     
    synaptic vesicle maturation NAS
    Non-traceable Author Statement
    more info
    PubMed 
    synaptic vesicle membrane organization NAS
    Non-traceable Author Statement
    more info
    PubMed 
    Component Evidence Code Pubs
    cell junction IEA
    Inferred from Electronic Annotation
    more info
     
    excitatory synapse IEA
    Inferred from Electronic Annotation
    more info
     
    integral component of synaptic vesicle membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    integral component of synaptic vesicle membrane NAS
    Non-traceable Author Statement
    more info
    PubMed 
    neuromuscular junction IEA
    Inferred from Electronic Annotation
    more info
     
    neuron projection ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    presynaptic active zone IEA
    Inferred from Electronic Annotation
    more info
     
    presynaptic membrane IEA
    Inferred from Electronic Annotation
    more info
     
    synaptic vesicle ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    terminal bouton IEA
    Inferred from Electronic Annotation
    more info
     
    Preferred Names
    synaptophysin
    Names
    major synaptic vesicle protein P38

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    Genomic

    1. NG_012532.1 RefSeqGene

      Range
      5001..17397
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_003179.2NP_003170.1  synaptophysin

      See identical proteins and their annotated locations for NP_003170.1

      Status: REVIEWED

      Source sequence(s)
      BC064550, BQ637168, X06389
      Consensus CDS
      CCDS14321.1
      UniProtKB/Swiss-Prot
      P08247
      Related
      ENSP00000263233, OTTHUMP00000032504, ENST00000263233, OTTHUMT00000083625
      Conserved Domains (1) summary
      pfam01284
      Location:22221
      MARVEL; Membrane-associating domain

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 108 details...Open this link in a new tab

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p7 Primary Assembly

    Genomic

    1. NC_000023.11 Reference GRCh38.p7 Primary Assembly

      Range
      49187812..49200202 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate CHM1_1.1

    Genomic

    1. NC_018934.2 Alternate CHM1_1.1

      Range
      49076586..49088982 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Support Center