Display Settings:

Format

Send to:

Choose Destination

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

Gene ID: 6622, updated on 15-Sep-2014
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
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]
See SNCA in Epigenomics, MapViewer
Location:
4q21
Exon count:
7
Annotation release Status Assembly Chr Location
106 current GRCh38 (GCF_000001405.26) 4 NC_000004.12 (89724099..89838296, 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 tigger transposable element derived 2 Neighboring gene GPRIN family member 3 Neighboring gene SNCA antisense RNA 1 Neighboring gene multimerin 1 Neighboring gene coiled-coil serine-rich protein 1 Neighboring gene thymosin beta 4, X-linked pseudogene 8

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
Imputation of sequence variants for identification of genetic risks for Parkinson's disease: a meta-analysis of genome-wide association studies.
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
Hsp70 protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
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
 
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 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
 
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
 
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 
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
 
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
 
cellular response to epinephrine stimulus TAS
Traceable Author Statement
more info
 
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
 
dopamine biosynthetic process TAS
Traceable Author Statement
more info
 
dopamine uptake involved in synaptic transmission TAS
Traceable Author Statement
more info
 
extracellular fibril organization TAS
Traceable Author Statement
more info
 
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 IEA
Inferred from Electronic Annotation
more info
 
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
 
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 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
 
phospholipid metabolic process IEA
Inferred from Electronic Annotation
more info
 
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
 
positive regulation of hydrogen peroxide catabolic process IDA
Inferred from Direct Assay
more info
 
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
 
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
 
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
 
regulation of excitatory postsynaptic membrane potential IEA
Inferred from Electronic Annotation
more info
 
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 neuron death IGI
Inferred from Genetic Interaction
more info
 
regulation of phospholipase activity IDA
Inferred from Direct Assay
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
 
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
 
mitochondrion IEA
Inferred from Electronic Annotation
more info
 
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
 
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
alpha-synuclein
synuclein alpha-140
non A-beta component of AD amyloid

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 

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

mRNA and Protein(s)

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

    See proteins identical to 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
    Blast Score: 414
    Synuclein; Synuclein
  2. NM_001146054.1NP_001139526.1  alpha-synuclein isoform NACP140

    See proteins identical to 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
    Blast Score: 414
    Synuclein; Synuclein
  3. NM_001146055.1NP_001139527.1  alpha-synuclein isoform NACP140

    See proteins identical to 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
    Blast Score: 414
    Synuclein; Synuclein
  4. NM_007308.2NP_009292.1  alpha-synuclein isoform NACP112

    See proteins identical to 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
    Blast Score: 313
    Synuclein; Synuclein

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_000004.12 

    Range
    89724099..89838296
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate HuRef

Genomic

  1. AC_000136.1 

    Range
    86396384..86510518
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate CHM1_1.1

Genomic

  1. NC_018915.2 

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