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    SNCA synuclein, alpha (non A4 component of amyloid precursor) [ Homo sapiens (human) ]

    Gene ID: 6622, updated on 26-Jul-2015
    Official Symbol
    SNCAprovided by HGNC
    Official Full Name
    synuclein, alpha (non A4 component of amyloid precursor)provided by HGNC
    Primary source
    HGNC:HGNC:11138
    See related
    Ensembl:ENSG00000145335; HPRD:01227; MIM:163890; Vega:OTTHUMG00000130948
    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
    PD1; NACP; PARK1; PARK4
    Summary
    Alpha-synuclein is a member of the synuclein family, which also includes beta- and gamma-synuclein. Synucleins are abundantly expressed in the brain and alpha- and beta-synuclein inhibit phospholipase D2 selectively. SNCA may serve to integrate presynaptic signaling and membrane trafficking. Defects in SNCA have been implicated in the pathogenesis of Parkinson disease. SNCA peptides are a major component of amyloid plaques in the brains of patients with Alzheimer's disease. Four alternatively spliced transcripts encoding two different isoforms have been identified for this gene. [provided by RefSeq, Mar 2009]
    Orthologs
    See SNCA in Epigenomics, MapViewer
    Location:
    4q21
    Exon count:
    9
    Annotation release Status Assembly Chr Location
    107 current GRCh38.p2 (GCF_000001405.28) 4 NC_000004.12 (89724099..89838314, complement)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 4 NC_000004.11 (90645250..90759447, complement)

    Chromosome 4 - NC_000004.12Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105377328 Neighboring gene uncharacterized LOC105377329 Neighboring gene uncharacterized LOC105377330 Neighboring gene SNCA antisense RNA 1 Neighboring gene multimerin 1 Neighboring gene uncharacterized LOC105377331

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    Associated conditions

    Description Tests
    Lewy body dementia
    MedGen: C0752347 OMIM: 127750 GeneReviews: Not available
    Compare labs
    Parkinson disease 1
    MedGen: C1868595 OMIM: 168601 GeneReviews: Parkinson Disease Overview
    Compare labs
    Parkinson disease 4
    MedGen: C1854182 OMIM: 605543 GeneReviews: Parkinson Disease Overview
    Compare labs

    NHGRI GWAS Catalog

    Description
    Common genetic variation in the HLA region is associated with late-onset sporadic Parkinson's disease.
    NHGRI GWA Catalog
    Comprehensive research synopsis and systematic meta-analyses in Parkinson's disease genetics: The PDGene database.
    NHGRI GWA Catalog
    Dissection of the genetics of Parkinson's disease identifies an additional association 5' of SNCA and multiple associated haplotypes at 17q21.
    NHGRI GWA Catalog
    Genome-wide association study confirms BST1 and suggests a locus on 12q24 as the risk loci for Parkinson's disease in the European population.
    NHGRI GWA Catalog
    Genome-wide association study confirms SNPs in SNCA and the MAPT region as common risk factors for Parkinson disease.
    NHGRI GWA Catalog
    Genome-wide association study identifies common variants at four loci as genetic risk factors for Parkinson's disease.
    NHGRI GWA Catalog
    Genome-wide association study reveals genetic risk underlying Parkinson's disease.
    NHGRI GWA Catalog
    Identification of a novel Parkinson's disease locus via stratified genome-wide association study.
    NHGRI GWA Catalog
    Imputation of sequence variants for identification of genetic risks for Parkinson's disease: a meta-analysis of genome-wide association studies.
    NHGRI GWA Catalog
    Large-scale meta-analysis of genome-wide association data identifies six new risk loci for Parkinson's disease.
    NHGRI GWA Catalog
    Meta-analysis of Parkinson's disease: identification of a novel locus, RIT2.
    NHGRI GWA Catalog
    Web-based genome-wide association study identifies two novel loci and a substantial genetic component for Parkinson's disease.
    NHGRI GWA Catalog
    • Alpha-synuclein signaling, organism-specific biosystem (from Pathway Interaction Database)
      Alpha-synuclein signaling, organism-specific biosystem
      Alpha-synuclein signaling
    • Alzheimer's disease, organism-specific biosystem (from KEGG)
      Alzheimer's disease, organism-specific biosystemAlzheimer's disease (AD) is a chronic disorder that slowly destroys neurons and causes serious cognitive disability. AD is associated with senile plaques and neurofibrillary tangles (NFTs). Amyloid-b...
    • Alzheimer's disease, conserved biosystem (from KEGG)
      Alzheimer's disease, conserved biosystemAlzheimer's disease (AD) is a chronic disorder that slowly destroys neurons and causes serious cognitive disability. AD is associated with senile plaques and neurofibrillary tangles (NFTs). Amyloid-b...
    • Alzheimers Disease, organism-specific biosystem (from WikiPathways)
      Alzheimers Disease, organism-specific biosystemThis pathway displays current genes, proteolytic events and other processes associated with the progression of Alzheimer's disease. This pathway was adapted from KEGG on 10/7/2011. Note: mitochondria...
    • Amyloids, organism-specific biosystem (from REACTOME)
      Amyloids, organism-specific biosystemAmyloid is a term used to describe typically extracellular deposits of aggregated proteins, sometimes known as plaques. Abnormal accumulation of amyloid is amyloidosis, a term associated with disease...
    • Disease, organism-specific biosystem (from REACTOME)
      Disease, organism-specific biosystemBiological processes are captured in Reactome by identifying the molecules (DNA, RNA, protein, small molecules) involved in them and describing the details of their interactions. From this molecular ...
    • EGFR1 Signaling Pathway, organism-specific biosystem (from WikiPathways)
      EGFR1 Signaling Pathway, organism-specific biosystemThe androgen receptor is a member of the nuclear receptor family of ligand activated transcription factors. These receptors bind to steroid hormones, thyroid hormone, retinoids and vitamin D among ot...
    • Parkin-Ubiquitin Proteasomal System pathway, organism-specific biosystem (from WikiPathways)
      Parkin-Ubiquitin Proteasomal System pathway, organism-specific biosystemThis pathway describes the Parkin-Ubiquitin proteasome degradation system.
    • Parkinson's disease, organism-specific biosystem (from KEGG)
      Parkinson's disease, organism-specific biosystemParkinson's disease (PD) is a progressive neurodegenerative movement disorder that results primarily from the death of dopaminergic (DA) neurons in the substantia nigra pars compacta (SNc). Mutations...
    • Parkinsons Disease Pathway, organism-specific biosystem (from WikiPathways)
      Parkinsons Disease Pathway, organism-specific biosystemMost people with Parkinson's disease have idiopathic Parkinson's disease (having no specific known cause). A small proportion of cases, however, can be attributed to known genetic factors. Mutations ...
    Products Interactant Other Gene Complex Source Pubs Description

    Markers

    Homology

    Clone Names

    • MGC110988

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    alpha-tubulin binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    beta-tubulin binding IEA
    Inferred from Electronic Annotation
    more info
     
    calcium ion binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    copper ion binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    cysteine-type endopeptidase inhibitor activity involved in apoptotic process IDA
    Inferred from Direct Assay
    more info
    PubMed 
    dynein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    NOT fatty acid binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    ferrous iron binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    histone binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    identical protein binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    identical protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    kinesin binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    magnesium ion binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    microtubule binding IEA
    Inferred from Electronic Annotation
    more info
     
    oxidoreductase activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    NOT phospholipase D inhibitor activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    phospholipase binding IEA
    Inferred from Electronic Annotation
    more info
     
    phospholipid binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    phosphoprotein binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    protein N-terminus binding IEA
    Inferred from Electronic Annotation
    more info
     
    protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    protein domain specific binding IEA
    Inferred from Electronic Annotation
    more info
     
    tau protein binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    transcription regulatory region DNA binding TAS
    Traceable Author Statement
    more info
    PubMed 
    zinc ion binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    Process Evidence Code Pubs
    activation of cysteine-type endopeptidase activity involved in apoptotic process IDA
    Inferred from Direct Assay
    more info
    PubMed 
    adult locomotory behavior IEA
    Inferred from Electronic Annotation
    more info
     
    aging IEA
    Inferred from Electronic Annotation
    more info
     
    behavioral response to cocaine IEA
    Inferred from Electronic Annotation
    more info
     
    NOT calcium ion homeostasis IDA
    Inferred from Direct Assay
    more info
    PubMed 
    cellular response to copper ion IDA
    Inferred from Direct Assay
    more info
    PubMed 
    cellular response to epinephrine stimulus TAS
    Traceable Author Statement
    more info
    PubMed 
    cellular response to fibroblast growth factor stimulus IEA
    Inferred from Electronic Annotation
    more info
     
    cellular response to oxidative stress IC
    Inferred by Curator
    more info
    PubMed 
    dopamine biosynthetic process TAS
    Traceable Author Statement
    more info
    PubMed 
    dopamine uptake involved in synaptic transmission TAS
    Traceable Author Statement
    more info
    PubMed 
    excitatory postsynaptic potential IEA
    Inferred from Electronic Annotation
    more info
     
    extracellular fibril organization TAS
    Traceable Author Statement
    more info
    PubMed 
    fatty acid metabolic process IEA
    Inferred from Electronic Annotation
    more info
     
    long-term synaptic potentiation IEA
    Inferred from Electronic Annotation
    more info
     
    microglial cell activation TAS
    Traceable Author Statement
    more info
    PubMed 
    mitochondrial ATP synthesis coupled electron transport IEA
    Inferred from Electronic Annotation
    more info
     
    mitochondrial membrane organization IEA
    Inferred from Electronic Annotation
    more info
     
    negative regulation of apoptotic process IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    negative regulation of cysteine-type endopeptidase activity involved in apoptotic process IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    negative regulation of dopamine metabolic process IEA
    Inferred from Electronic Annotation
    more info
     
    negative regulation of dopamine uptake involved in synaptic transmission IDA
    Inferred from Direct Assay
    more info
    PubMed 
    negative regulation of exocytosis IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    negative regulation of histone acetylation IDA
    Inferred from Direct Assay
    more info
    PubMed 
    negative regulation of microtubule polymerization IDA
    Inferred from Direct Assay
    more info
    PubMed 
    negative regulation of mitochondrial electron transport, NADH to ubiquinone TAS
    Traceable Author Statement
    more info
    PubMed 
    negative regulation of monooxygenase activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    negative regulation of neuron apoptotic process IEA
    Inferred from Electronic Annotation
    more info
     
    negative regulation of norepinephrine uptake IDA
    Inferred from Direct Assay
    more info
    PubMed 
    negative regulation of platelet-derived growth factor receptor signaling pathway IDA
    Inferred from Direct Assay
    more info
    PubMed 
    negative regulation of protein phosphorylation IEA
    Inferred from Electronic Annotation
    more info
     
    negative regulation of serotonin uptake IDA
    Inferred from Direct Assay
    more info
    PubMed 
    negative regulation of thrombin receptor signaling pathway IDA
    Inferred from Direct Assay
    more info
    PubMed 
    negative regulation of transcription from RNA polymerase II promoter TAS
    Traceable Author Statement
    more info
    PubMed 
    negative regulation of transporter activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    neutral lipid metabolic process IEA
    Inferred from Electronic Annotation
    more info
     
    oxidation-reduction process IDA
    Inferred from Direct Assay
    more info
    PubMed 
    phospholipid metabolic process IEA
    Inferred from Electronic Annotation
    more info
     
    positive regulation of apoptotic process TAS
    Traceable Author Statement
    more info
    PubMed 
    positive regulation of endocytosis IDA
    Inferred from Direct Assay
    more info
    PubMed 
    positive regulation of glutathione peroxidase activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    positive regulation of hydrogen peroxide catabolic process IDA
    Inferred from Direct Assay
    more info
    PubMed 
    positive regulation of inositol phosphate biosynthetic process IDA
    Inferred from Direct Assay
    more info
    PubMed 
    positive regulation of neurotransmitter secretion IEA
    Inferred from Electronic Annotation
    more info
     
    positive regulation of peptidyl-serine phosphorylation ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    positive regulation of protein serine/threonine kinase activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    positive regulation of receptor recycling IDA
    Inferred from Direct Assay
    more info
    PubMed 
    positive regulation of release of sequestered calcium ion into cytosol IDA
    Inferred from Direct Assay
    more info
    PubMed 
    protein destabilization IDA
    Inferred from Direct Assay
    more info
    PubMed 
    receptor internalization IDA
    Inferred from Direct Assay
    more info
    PubMed 
    regulation of acyl-CoA biosynthetic process IEA
    Inferred from Electronic Annotation
    more info
     
    regulation of dopamine secretion TAS
    Traceable Author Statement
    more info
    PubMed 
    regulation of glutamate secretion IEA
    Inferred from Electronic Annotation
    more info
     
    regulation of locomotion IEA
    Inferred from Electronic Annotation
    more info
     
    regulation of long-term neuronal synaptic plasticity IEA
    Inferred from Electronic Annotation
    more info
     
    regulation of macrophage activation IEA
    Inferred from Electronic Annotation
    more info
     
    regulation of phospholipase activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    regulation of reactive oxygen species biosynthetic process TAS
    Traceable Author Statement
    more info
    PubMed 
    regulation of synaptic vesicle recycling TAS
    Traceable Author Statement
    more info
    PubMed 
    response to drug IEA
    Inferred from Electronic Annotation
    more info
     
    response to interferon-gamma IDA
    Inferred from Direct Assay
    more info
    PubMed 
    response to interleukin-1 IDA
    Inferred from Direct Assay
    more info
    PubMed 
    response to iron(II) ion IDA
    Inferred from Direct Assay
    more info
    PubMed 
    response to lipopolysaccharide IDA
    Inferred from Direct Assay
    more info
    PubMed 
    response to magnesium ion IDA
    Inferred from Direct Assay
    more info
    PubMed 
    synapse organization IEA
    Inferred from Electronic Annotation
    more info
     
    synaptic vesicle endocytosis ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    Component Evidence Code Pubs
    Golgi apparatus IEA
    Inferred from Electronic Annotation
    more info
     
    actin cytoskeleton IDA
    Inferred from Direct Assay
    more info
    PubMed 
    axon IDA
    Inferred from Direct Assay
    more info
    PubMed 
    cell cortex IDA
    Inferred from Direct Assay
    more info
    PubMed 
    cell junction IEA
    Inferred from Electronic Annotation
    more info
     
    cytoplasm IDA
    Inferred from Direct Assay
    more info
    PubMed 
    cytosol IDA
    Inferred from Direct Assay
    more info
    PubMed 
    extracellular region TAS
    Traceable Author Statement
    more info
     
    extracellular space IDA
    Inferred from Direct Assay
    more info
    PubMed 
    fibril IDA
    Inferred from Direct Assay
    more info
    PubMed 
    growth cone IDA
    Inferred from Direct Assay
    more info
    PubMed 
    inclusion body IDA
    Inferred from Direct Assay
    more info
    PubMed 
    lysosome TAS
    Traceable Author Statement
    more info
    PubMed 
    membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    colocalizes_with mitochondrial respiratory chain complex I TAS
    Traceable Author Statement
    more info
    PubMed 
    mitochondrion TAS
    Traceable Author Statement
    more info
    PubMed 
    nuclear outer membrane IEA
    Inferred from Electronic Annotation
    more info
     
    nucleus IDA
    Inferred from Direct Assay
    more info
    PubMed 
    perinuclear region of cytoplasm IDA
    Inferred from Direct Assay
    more info
    PubMed 
    plasma membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    colocalizes_with platelet alpha granule membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    ribosome IEA
    Inferred from Electronic Annotation
    more info
     
    rough endoplasmic reticulum IEA
    Inferred from Electronic Annotation
    more info
     
    synaptic vesicle IEA
    Inferred from Electronic Annotation
    more info
     
    terminal bouton IEA
    Inferred from Electronic Annotation
    more info
     
    Preferred Names
    alpha-synuclein
    Names
    non A-beta component of AD amyloid
    synuclein alpha-140

    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_011851.1 RefSeqGene

      Range
      5001..119198
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_000345.3NP_000336.1  alpha-synuclein isoform NACP140

      See identical proteins and their annotated locations for NP_000336.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1, also known as NACP140) is the longest transcript and encodes the longer isoform (NACP140). Variants 1, 2, and 3 all encode the same isoform.
      Source sequence(s)
      AC097478, AI815523, BC108275
      Consensus CDS
      CCDS3634.1
      UniProtKB/Swiss-Prot
      P37840
      Related
      ENSP00000378440, ENST00000394989
      Conserved Domains (1) summary
      pfam01387
      Location:1132
      Synuclein; Synuclein
    2. NM_001146054.1NP_001139526.1  alpha-synuclein isoform NACP140

      See identical proteins and their annotated locations for NP_001139526.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) differs in the 5' UTR compared to variant 1. Variants 1, 2, and 3 all encode the same isoform (NACP140).
      Source sequence(s)
      AC093759, AC097478, BC013293
      Consensus CDS
      CCDS3634.1
      UniProtKB/Swiss-Prot
      P37840
      Conserved Domains (1) summary
      pfam01387
      Location:1132
      Synuclein; Synuclein
    3. NM_001146055.1NP_001139527.1  alpha-synuclein isoform NACP140

      See identical proteins and their annotated locations for NP_001139527.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) differs in the 5' UTR compared to variant 1. Variants 1, 2, and 3 all encode the same isoform (NACP140).
      Source sequence(s)
      AC097478, DA391115
      Consensus CDS
      CCDS3634.1
      UniProtKB/Swiss-Prot
      P37840
      Related
      ENSP00000338345, OTTHUMP00000161561, ENST00000336904, OTTHUMT00000253549
      Conserved Domains (1) summary
      pfam01387
      Location:1132
      Synuclein; Synuclein
    4. NM_007308.2NP_009292.1  alpha-synuclein isoform NACP112

      See identical proteins and their annotated locations for NP_009292.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (4, also known as NACP112) lacks an alternate in-frame exon compared to variant 1. The resulting isoform (NACP112) has the same N- and C-termini but is shorter compared to isoform NACP140.
      Source sequence(s)
      AC093759, AC097478, D31839
      Consensus CDS
      CCDS43252.1
      UniProtKB/TrEMBL
      H6UYS5
      UniProtKB/Swiss-Prot
      P37840
      Related
      ENSP00000396241, ENST00000420646
      Conserved Domains (1) summary
      pfam01387
      Location:1103
      Synuclein; Synuclein

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 107

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

    Reference GRCh38.p2 Primary Assembly

    Genomic

    1. NC_000004.12 Reference GRCh38.p2 Primary Assembly

      Range
      89724099..89838314
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011532208.1XP_011530510.1  

      See identical proteins and their annotated locations for XP_011530510.1

      UniProtKB/Swiss-Prot
      P37840
      Conserved Domains (1) summary
      pfam01387
      Location:1132
      Synuclein; Synuclein
    2. XM_011532205.1XP_011530507.1  

      See identical proteins and their annotated locations for XP_011530507.1

      Conserved Domains (1) summary
      pfam01387
      Location:1102
      Synuclein; Synuclein
    3. XM_011532203.1XP_011530505.1  

      See identical proteins and their annotated locations for XP_011530505.1

      Conserved Domains (1) summary
      pfam01387
      Location:1102
      Synuclein; Synuclein
    4. XM_011532206.1XP_011530508.1  

      See identical proteins and their annotated locations for XP_011530508.1

      Conserved Domains (1) summary
      pfam01387
      Location:1102
      Synuclein; Synuclein
    5. XM_011532204.1XP_011530506.1  

      See identical proteins and their annotated locations for XP_011530506.1

      Conserved Domains (1) summary
      pfam01387
      Location:1102
      Synuclein; Synuclein
    6. XM_011532207.1XP_011530509.1  

      See identical proteins and their annotated locations for XP_011530509.1

      Conserved Domains (1) summary
      pfam01387
      Location:1102
      Synuclein; Synuclein

    Alternate CHM1_1.1

    Genomic

    1. NC_018915.2 Alternate CHM1_1.1

      Range
      90621712..90735909
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)