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SYP synaptophysin [ Homo sapiens (human) ]

Gene ID: 6855, updated on 11-Sep-2014
Official Symbol
SYPprovided by HGNC
Official Full Name
synaptophysinprovided by HGNC
Primary source
HGNC:HGNC:11506
See related
Ensembl:ENSG00000102003; HPRD:02435; 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]
Location:
Xp11.23-p11.22
Exon count:
7
Annotation release Status Assembly Chr Location
106 current GRCh38 (GCF_000001405.26) 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 homolog 3 (Drosophila) Neighboring gene proteolipid protein 2 (colonic epithelium-enriched) Neighboring gene SYP antisense RNA 1 Neighboring gene calcium channel, voltage-dependent, L type, alpha 1F subunit Neighboring gene heat shock 27kDa protein 1 pseudogene 2

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

  • 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 complex binding IEA
Inferred from Electronic Annotation
more info
 
protein self-association TAS
Traceable Author Statement
more info
PubMed 
syntaxin-1 binding IEA
Inferred from Electronic Annotation
more info
 
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 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 NAS
Non-traceable Author Statement
more info
PubMed 
neuron projection ISS
Inferred from Sequence or Structural Similarity
more info
 
neuron projection terminus IEA
Inferred from Electronic Annotation
more info
 
presynaptic active zone IEA
Inferred from Electronic Annotation
more info
 
presynaptic membrane IEA
Inferred from Electronic Annotation
more info
 
protein complex IEA
Inferred from Electronic Annotation
more info
 
Preferred Names
synaptophysin
Names
synaptophysin
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 

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

mRNA and Protein(s)

  1. NM_003179.2NP_003170.1  synaptophysin

    See proteins identical to 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
    Blast Score: 196
    MARVEL; Membrane-associating domain

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 106

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

Reference GRCh38 Primary Assembly

Genomic

  1. NC_000023.11 

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

Alternate HuRef

Genomic

  1. AC_000155.1 

    Range
    46701336..46713608
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate CHM1_1.1

Genomic

  1. NC_018934.2 

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