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SYN1 synapsin I [ Homo sapiens (human) ]

Gene ID: 6853, updated on 1-Aug-2020

Summary

Official Symbol
SYN1provided by HGNC
Official Full Name
synapsin Iprovided by HGNC
Primary source
HGNC:HGNC:11494
See related
Ensembl:ENSG00000008056 MIM:313440
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
SYNI; MRX50; SYN1a; SYN1b
Summary
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]
Expression
Biased expression in brain (RPKM 99.5) and adrenal (RPKM 5.6) See more
Orthologs

Genomic context

See SYN1 in Genome Data Viewer
Location:
Xp11.3-p11.23
Exon count:
13
Annotation release Status Assembly Chr Location
109.20200522 current GRCh38.p13 (GCF_000001405.39) X NC_000023.11 (47571901..47619857, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) X NC_000023.10 (47431300..47479256, complement)

Chromosome X - NC_000023.11Genomic Context describing neighboring genes Neighboring gene NUS1 pseudogene 1 Neighboring gene Sharpr-MPRA regulatory region 4668 Neighboring gene A-Raf proto-oncogene, serine/threonine kinase Neighboring gene TIMP metallopeptidase inhibitor 1 Neighboring gene microRNA 4769 Neighboring gene complement factor properdin Neighboring gene ETS transcription factor ELK1

Genomic regions, transcripts, and products

Expression

  • 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 Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

Associated conditions

Description Tests
Epilepsy, X-linked, with variable learning disabilities and behavior disorders
MedGen: C1845343 OMIM: 300491 GeneReviews: Not available
Compare labs

Copy number response

Description
Copy number response
Triplosensitivity

No evidence available (Last evaluated (2018-09-26)

ClinGen Genome Curation Page
Haploinsufficency

Some evidence for dosage pathogenicity (Last evaluated (2018-09-26)

ClinGen Genome Curation PagePubMed

HIV-1 interactions

Protein interactions

Protein Gene Interaction Pubs
Tat tat Treatment of microglia cells with HIV-1 Tat shows TAU5 and synapsin-1 positive inclusions in cells PubMed

Go to the HIV-1, Human Interaction Database

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
ATP binding TAS
Traceable Author Statement
more info
PubMed 
actin binding IEA
Inferred from Electronic Annotation
more info
 
calcium-dependent protein binding IEA
Inferred from Electronic Annotation
more info
 
identical protein binding IEA
Inferred from Electronic Annotation
more info
 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
protein kinase binding ISS
Inferred from Sequence or Structural Similarity
more info
 
transporter activity TAS
Traceable Author Statement
more info
PubMed 
Process Evidence Code Pubs
chemical synaptic transmission TAS
Traceable Author Statement
more info
PubMed 
neuron development IEA
Inferred from Electronic Annotation
more info
 
neurotransmitter secretion IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
regulation of neurotransmitter secretion TAS
Traceable Author Statement
more info
PubMed 
regulation of synaptic vesicle exocytosis NAS
Non-traceable Author Statement
more info
PubMed 
synapse organization IEA
Inferred from Electronic Annotation
more info
 
synaptic vesicle clustering IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
Golgi apparatus IEA
Inferred from Electronic Annotation
more info
 
Schaffer collateral - CA1 synapse IEA
Inferred from Electronic Annotation
more info
 
anchored component of synaptic vesicle membrane IEA
Inferred from Electronic Annotation
more info
 
axon IEA
Inferred from Electronic Annotation
more info
 
cytoskeleton IDA
Inferred from Direct Assay
more info
PubMed 
cytosol IEA
Inferred from Electronic Annotation
more info
 
dendrite IEA
Inferred from Electronic Annotation
more info
 
extrinsic component of synaptic vesicle membrane IEA
Inferred from Electronic Annotation
more info
 
postsynaptic density IEA
Inferred from Electronic Annotation
more info
 
presynaptic active zone IEA
Inferred from Electronic Annotation
more info
 
synaptic vesicle TAS
Traceable Author Statement
more info
PubMed 
synaptic vesicle membrane IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
synaptonemal complex IEA
Inferred from Electronic Annotation
more info
 

General protein information

Preferred Names
synapsin-1
Names
brain protein 4.1
synapsin Ib

NCBI Reference Sequences (RefSeq)

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_008437.1 RefSeqGene

    Range
    5001..52957
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_006950.3NP_008881.2  synapsin-1 isoform Ia

    See identical proteins and their annotated locations for NP_008881.2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (Ia) represents the longer transcript, and encodes the longer isoform (Ia). This isoform (Ia) contains a distinct domain E, as compared to isoform Ib.
    Source sequence(s)
    AI929645, BC036711, BC048799, Z84466
    Consensus CDS
    CCDS14280.1
    UniProtKB/Swiss-Prot
    P17600
    Related
    ENSP00000295987.7, ENST00000295987.13
    Conserved Domains (4) summary
    pfam02078
    Location:115212
    Synapsin; Synapsin, N-terminal domain
    pfam10581
    Location:127
    Synapsin_N; Synapsin N-terminal
    cl17255
    Location:214416
    CPSase_L_D2; Carbamoyl-phosphate synthase L chain, ATP binding domain
    cl26386
    Location:494686
    DNA_pol3_gamma3; DNA polymerase III subunits gamma and tau domain III
  2. NM_133499.2NP_598006.1  synapsin-1 isoform Ib

    See identical proteins and their annotated locations for NP_598006.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (Ib) utilizes an alternative splice acceptor site in terminal exon compared to variant Ia, resulting in the lack of an internal segment and a frameshift. This variant encodes isoform Ib, which contains a shorter carboxyl terminus and a distinct domain F, as compared to isoform Ia.
    Source sequence(s)
    AI929645, BC036711, BC048799
    Consensus CDS
    CCDS35233.1
    UniProtKB/Swiss-Prot
    P17600
    Related
    ENSP00000343206.4, ENST00000340666.5
    Conserved Domains (4) summary
    pfam02078
    Location:115212
    Synapsin; Synapsin, N-terminal domain
    pfam10581
    Location:127
    Synapsin_N; Synapsin N-terminal
    cl17255
    Location:214416
    CPSase_L_D2; Carbamoyl-phosphate synthase L chain, ATP binding domain
    cl26464
    Location:498669
    Atrophin-1; Atrophin-1 family

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109.20200522

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000023.11 Reference GRCh38.p13 Primary Assembly

    Range
    47571901..47619857 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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