SYP

Protein identityUniProt · HPA

UniProt accession

P08247

Gene

SYP

Ensembl

ENSG00000102003

Chromosome

X

Canonical length

313 aa

Protein class

Disease related genes, Human disease related genes, Potential drug targets, Predicted membrane proteins, Transporters

Quaternary structure

Homohexamer

OverviewNCBI Gene

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 an X-linked form of cognitive disability. [provided by RefSeq, Jul 2017]

Canonical amino-acid sequenceUniProt

313 residues, UniProt reviewed canonical sequence.

>P08247|SYP
     1  MLLLADMDVV NQLVAGGQFR VVKEPLGFVK VLQWVFAIFA FATCGSYSGE LQLSVDCANK
    61  TESDLSIEVE FEYPFRLHQV YFDAPTCRGG TTKVFLVGDY SSSAEFFVTV AVFAFLYSMG
   121  ALATYIFLQN KYRENNKGPM LDFLATAVFA FMWLVSSSAW AKGLSDVKMA TDPENIIKEM
   181  PVCRQTGNTC KELRDPVTSG LNTSVVFGFL NLVLWVGNLW FVFKETGWAA PFLRAPPGAP
   241  EKQPAPGDAY GDAGYGQGPG GYGPQDSYGP QGGYQPDYGQ PAGSGGSGYG PQGDYGQQGY
   301  GPQGAPTSFS NQM

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against SYP can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.

Antibody reachability

Intracellular

Secreted

No

Transmembrane segments

4

Mean surface accessibility (rSASA)

0.41

Highest tissue expression

419 nTPM

Expression across tissuesHPA

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about SYP.

Disease | AllUniProt

Conditions SYP is implicated in, by any mechanism.

• Intellectual developmental disorder, X-linked 96 (XLID96) MIM:300802

Disease | GeneticClinVar

11 pathogenic / likely-pathogenic of 131 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

• Intellectual disability, X-linked 96
• Neurodevelopmental delay

ReferencesPubMed · IEDB

Publications for SYP from three distinct lines of evidence, kept separate because they answer different questions: whether antibodies are directed at the protein, whether a B-cell epitope has been mapped on it, and whether a T-cell epitope has. Each is labelled with its source.

Sources: PubMed — antigen-level antibody evidence from a custom retrieval. Records matching a controlled set of autoantibody terms (the MeSH descriptors Autoantibodies and Autoantigens, with title and abstract term variants) were obtained through NCBI E-utilities, and their titles and abstracts parsed for constructions that direct an antibody at a named protein rather than for co-occurrence. Captured names were resolved against UniProt nomenclature and each antigen adjudicated individually against the source text. Bibliographic records from PubMed and MeSH, U.S. National Library of Medicine; citation metrics from NIH iCite (Hutchins et al., PLoS Biology 2016). Titles link to PubMed; abstracts are not reproduced here. The NLM does not endorse this analysis.

Genetic constraint and essentialitygnomAD · DepMap

Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.

gnomAD LOEUF (loss-of-function intolerance)

0.39

gnomAD pLI

0.92

gnomAD missense Z

1.33

DepMap mean gene effect

0.04

DepMap dependency class

none

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 3% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

• endocytosis
• regulation of long-term neuronal synaptic plasticity
• regulation of neuronal synaptic plasticity
• regulation of opioid receptor signaling pathway
• regulation of short-term neuronal synaptic plasticity
• regulation of synaptic vesicle priming
• synaptic vesicle maturation
• synaptic vesicle membrane organization

Molecular functions

• cholesterol binding
• identical protein binding
• SH2 domain binding

Cellular components

• excitatory synapse
• neuromuscular junction
• neuron projection
• perinuclear region of cytoplasm
• presynaptic active zone
• presynaptic membrane
• Schaffer collateral - CA1 synapse
• synaptic vesicle
• synaptic vesicle membrane
• terminal bouton

Protein domainsUniProt · Pfam · InterPro

• Synaptophysin/synaptoporin
• Marvel domain
• Membrane-associating domain

KeywordsUniProt

• Calcium
• Cytoplasmic vesicle
• Glycoprotein
• Intellectual disability
• Membrane
• Phosphoprotein
• Repeat
• Synapse
• Synaptosome
• Transmembrane
• Transmembrane helix
• Ubl conjugation

InteractionsUniProt · HPA

Protein binding partners of SYP in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.

• SRCIN1
• VAMP2
• OPRM1