SYN1

Protein identityUniProt · HPA

UniProt accession

P17600

Gene

SYN1

Ensembl

ENSG00000008056

Chromosome

X

Canonical length

705 aa

Protein class

Disease related genes, Human disease related genes, Plasma proteins, Predicted intracellular proteins

Quaternary structure

Homodimer

OverviewNCBI Gene

This gene is a member of the synapsin gene family. Synapsins encode neuronal phosphoproteins which associate with the cytoplasmic surface of synaptic vesicles. Family members are characterized by common protein domains, and they are implicated in synaptogenesis and the modulation of neurotransmitter release, suggesting a potential role in several neuropsychiatric diseases. This member of the synapsin family plays a role in regulation of axonogenesis and synaptogenesis. The protein encoded serves as a substrate for several different protein kinases and phosphorylation may function in the regulation of this protein in the nerve terminal. Mutations in this gene may be associated with X-linked disorders with primary neuronal degeneration such as Rett syndrome. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008]

Canonical amino-acid sequenceUniProt

705 residues, UniProt reviewed canonical sequence.

>P17600|SYN1
     1  MNYLRRRLSD SNFMANLPNG YMTDLQRPQP PPPPPGAHSP GATPGPGTAT AERSSGVAPA
    61  ASPAAPSPGS SGGGGFFSSL SNAVKQTTAA AAATFSEQVG GGSGGAGRGG AASRVLLVID
   121  EPHTDWAKYF KGKKIHGEID IKVEQAEFSD LNLVAHANGG FSVDMEVLRN GVKVVRSLKP
   181  DFVLIRQHAF SMARNGDYRS LVIGLQYAGI PSVNSLHSVY NFCDKPWVFA QMVRLHKKLG
   241  TEEFPLIDQT FYPNHKEMLS STTYPVVVKM GHAHSGMGKV KVDNQHDFQD IASVVALTKT
   301  YATAEPFIDA KYDVRVQKIG QNYKAYMRTS VSGNWKTNTG SAMLEQIAMS DRYKLWVDTC
   361  SEIFGGLDIC AVEALHGKDG RDHIIEVVGS SMPLIGDHQD EDKQLIVELV VNKMAQALPR
   421  QRQRDASPGR GSHGQTPSPG ALPLGRQTSQ QPAGPPAQQR PPPQGGPPQP GPGPQRQGPP
   481  LQQRPPPQGQ QHLSGLGPPA GSPLPQRLPS PTSAPQQPAS QAAPPTQGQG RQSRPVAGGP
   541  GAPPAARPPA SPSPQRQAGP PQATRQTSVS GPAPPKASGA PPGGQQRQGP PQKPPGPAGP
   601  TRQASQAGPV PRTGPPTTQQ PRPSGPGPAG RPKPQLAQKP SQDVPPPATA AAGGPPHPQL
   661  NKSQSLTNAF NLPEPAPPRP SLSQDEVKAE TIRSLRKSFA SLFSD

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against SYN1 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

Cell surface

Secreted

No

Transmembrane segments

0

Mean surface accessibility (rSASA)

0.52

Highest tissue expression

312 nTPM

Expression across tissuesHPA

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about SYN1.

Disease | AllUniProt

Conditions SYN1 is implicated in, by any mechanism.

• Epilepsy, X-linked 1, with variable learning disabilities and behavior disorders (EPILX1) MIM:300491
• Intellectual developmental disorder, X-linked 50 (XLID50) MIM:300115

Disease | GeneticClinVar

66 pathogenic / likely-pathogenic of 663 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

• Epilepsy, X-linked 1, with variable learning disabilities and behavior disorders
• Intellectual disability, X-linked 50
• SYN1-related disorder
• Inborn genetic diseases
• Seizure

ReferencesPubMed · IEDB

Publications for SYN1 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)

0.25

gnomAD pLI

0.99

gnomAD missense Z

2.97

DepMap mean gene effect

0.07

DepMap dependency class

none

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 4% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

• chemical synaptic transmission
• neuron development
• neurotransmitter secretion
• regulation of neurotransmitter secretion
• regulation of synaptic vesicle cycle
• regulation of synaptic vesicle exocytosis
• synapse organization
• synaptic vesicle clustering

Molecular functions

• actin binding
• ATP binding
• calcium-dependent protein binding
• cytoskeletal protein-membrane anchor activity
• identical protein binding
• protein kinase binding

Cellular components

• axon
• cell body
• cytoskeleton
• dendrite
• extrinsic component of synaptic vesicle membrane
• Golgi apparatus
• postsynaptic density
• presynapse
• presynaptic active zone
• Schaffer collateral - CA1 synapse
• synaptic vesicle
• synaptic vesicle membrane
• synaptonemal complex

Protein domainsUniProt · Pfam · InterPro

• Synapsin
• ATP-grasp fold, subdomain 1
• Pre-ATP-grasp domain superfamily
• Synapsin, conserved site
• Synapsin, phosphorylation site
• Synapsin, pre-ATP-grasp domain
• Synapsin, ATP-binding domain
• Synapsin pre-ATP-grasp domain
• Synapsin, ATP binding domain
• Synapsin N-terminal domain

KeywordsUniProt

• Actin-binding
• Cell projection
• Cytoplasmic vesicle
• Epilepsy
• Glycoprotein
• Golgi apparatus
• Intellectual disability
• Methylation
• Phosphoprotein
• Repeat
• Synapse

InteractionsUniProt · HPA

Protein binding partners of SYN1 in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.

• CAPON
• PRNP
• CAMK2A
• DBNL
• NOS1AP