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    SNCA synuclein alpha [ Homo sapiens (human) ]

    Gene ID: 6622, updated on 10-Dec-2024

    Summary

    Official Symbol
    SNCAprovided by HGNC
    Official Full Name
    synuclein alphaprovided by HGNC
    Primary source
    HGNC:HGNC:11138
    See related
    Ensembl:ENSG00000145335 MIM:163890; AllianceGenome:HGNC:11138
    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. Alternatively spliced transcripts encoding different isoforms have been identified for this gene. [provided by RefSeq, Feb 2016]
    Expression
    Biased expression in brain (RPKM 59.2), bone marrow (RPKM 24.6) and 2 other tissues See more
    Orthologs
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See SNCA in Genome Data Viewer
    Location:
    4q22.1
    Exon count:
    12
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 4 NC_000004.12 (89724099..89838304, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 4 NC_060928.1 (93055378..93169553, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 4 NC_000004.11 (90645250..90759455, complement)

    Chromosome 4 - NC_000004.12Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC124900855 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr4:90462817-90463325 Neighboring gene uncharacterized LOC105377329 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr4:90601839-90603038 Neighboring gene uncharacterized LOC124900602 Neighboring gene NANOG hESC enhancer GRCh37_chr4:90610181-90610715 Neighboring gene uncharacterized LOC124900856 Neighboring gene SNCA antisense RNA 1 Neighboring gene MPRA-validated peak5070 silencer Neighboring gene multimerin 1 Neighboring gene VISTA enhancer hs1374 Neighboring gene uncharacterized LOC105377331

    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

    BioGRID CRISPR Screen Phenotypes (12 hits/1262 screens)

    Associated conditions

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

    EBI GWAS Catalog

    Items 1 - 10 of 12
    Description
    Common genetic variation in the HLA region is associated with late-onset sporadic Parkinson's disease.
    EBI GWAS Catalog
    Comprehensive research synopsis and systematic meta-analyses in Parkinson's disease genetics: The PDGene database.
    EBI GWAS Catalog
    Dissection of the genetics of Parkinson's disease identifies an additional association 5' of SNCA and multiple associated haplotypes at 17q21.
    EBI GWAS 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.
    EBI GWAS Catalog
    Genome-wide association study confirms SNPs in SNCA and the MAPT region as common risk factors for Parkinson disease.
    EBI GWAS Catalog
    Genome-wide association study identifies common variants at four loci as genetic risk factors for Parkinson's disease.
    EBI GWAS Catalog
    Genome-wide association study reveals genetic risk underlying Parkinson's disease.
    EBI GWAS Catalog
    Identification of a novel Parkinson's disease locus via stratified genome-wide association study.
    EBI GWAS Catalog
    Imputation of sequence variants for identification of genetic risks for Parkinson's disease: a meta-analysis of genome-wide association studies.
    EBI GWAS Catalog
    Large-scale meta-analysis of genome-wide association data identifies six new risk loci for Parkinson's disease.
    EBI GWAS Catalog
    Meta-analysis of Parkinson's disease: identification of a novel locus, RIT2.
    EBI GWAS Catalog
    Web-based genome-wide association study identifies two novel loci and a substantial genetic component for Parkinson's disease.
    EBI GWAS Catalog
    Items 1 - 10 of 12

    Pathways from PubChem

    Interactions

    General gene information

    Clone Names

    • MGC110988

    Gene Ontology Provided by GOA

    Items 1 - 25 of 29
    Function Evidence Code Pubs
    enables Hsp70 protein binding PubMed 
    enables SNARE binding PubMed 
    enables actin binding PubMed 
    enables alpha-tubulin binding PubMed 
    enables calcium ion binding PubMed 
    enables copper ion binding PubMed 
    enables cuprous ion binding  
    enables cuprous ion binding PubMed 
    enables cysteine-type endopeptidase inhibitor activity involved in apoptotic process PubMed 
    enables dynein complex binding PubMed 
    NOT enables fatty acid binding PubMed 
    enables ferrous iron binding PubMed 
    enables histone binding PubMed 
    enables identical protein binding PubMed 
    enables identical protein binding PubMed 
    enables kinesin binding PubMed 
    enables lipid binding PubMed 
    enables lipid binding PubMed 
    enables magnesium ion binding PubMed 
    enables molecular adaptor activity PubMed 
    enables oxidoreductase activity PubMed 
    NOT enables phospholipase D inhibitor activity PubMed 
    enables phospholipid binding PubMed 
    enables phosphoprotein binding PubMed 
    enables protein binding PubMed 
    enables protein kinase inhibitor activity PubMed 
    enables tau protein binding PubMed 
    enables transcription cis-regulatory region binding PubMed 
    enables zinc ion binding PubMed 
    Items 1 - 25 of 29
    Items 1 - 25 of 76
    Process Evidence Code Pubs
    involved_in SNARE complex assembly PubMed 
    involved_in adult locomotory behavior  
    involved_in amyloid fibril formation PubMed 
    NOT involved_in calcium ion homeostasis PubMed 
    involved_in cellular response to copper ion PubMed 
    involved_in cellular response to epinephrine stimulus PubMed 
    involved_in cellular response to oxidative stress PubMed 
    involved_in chemical synaptic transmission  
    involved_in dopamine biosynthetic process PubMed 
    involved_in dopamine uptake involved in synaptic transmission PubMed 
    involved_in excitatory postsynaptic potential  
    involved_in fatty acid metabolic process  
    involved_in long-term synaptic potentiation  
    involved_in microglial cell activation PubMed 
    involved_in mitochondrial ATP synthesis coupled electron transport  
    involved_in mitochondrial membrane organization  
    involved_in negative regulation of apoptotic process PubMed 
    involved_in negative regulation of chaperone-mediated autophagy PubMed 
    involved_in negative regulation of dopamine uptake involved in synaptic transmission PubMed 
    involved_in negative regulation of exocytosis PubMed 
    involved_in negative regulation of microtubule polymerization PubMed 
    involved_in negative regulation of mitochondrial electron transport, NADH to ubiquinone PubMed 
    involved_in negative regulation of monooxygenase activity PubMed 
    involved_in negative regulation of neuron apoptotic process  
    involved_in negative regulation of norepinephrine uptake PubMed 
    involved_in negative regulation of platelet-derived growth factor receptor signaling pathway PubMed 
    involved_in negative regulation of protein kinase activity PubMed 
    involved_in negative regulation of serotonin uptake PubMed 
    involved_in negative regulation of thrombin-activated receptor signaling pathway PubMed 
    involved_in negative regulation of transcription by RNA polymerase II PubMed 
    involved_in negative regulation of transporter activity PubMed 
    involved_in neuron apoptotic process  
    involved_in neutral lipid metabolic process  
    involved_in phospholipid metabolic process  
    involved_in positive regulation of SNARE complex assembly PubMed 
    involved_in positive regulation of apoptotic process PubMed 
    involved_in positive regulation of endocytosis PubMed 
    involved_in positive regulation of exocytosis PubMed 
    involved_in positive regulation of glutathione peroxidase activity PubMed 
    involved_in positive regulation of hydrogen peroxide catabolic process PubMed 
    involved_in positive regulation of inflammatory response PubMed 
    involved_in positive regulation of inositol phosphate biosynthetic process PubMed 
    involved_in positive regulation of neurotransmitter secretion  
    involved_in positive regulation of peptidyl-serine phosphorylation  
    involved_in positive regulation of protein localization to cell periphery PubMed 
    involved_in positive regulation of protein serine/threonine kinase activity PubMed 
    involved_in positive regulation of receptor recycling PubMed 
    involved_in positive regulation of release of sequestered calcium ion into cytosol PubMed 
    involved_in protein destabilization PubMed 
    involved_in protein tetramerization PubMed 
    involved_in receptor internalization PubMed 
    involved_in regulation of acyl-CoA biosynthetic process  
    involved_in regulation of dopamine secretion PubMed 
    involved_in regulation of glutamate secretion  
    involved_in regulation of locomotion  
    involved_in regulation of long-term neuronal synaptic plasticity  
    involved_in regulation of macrophage activation  
    involved_in regulation of norepinephrine uptake PubMed 
    involved_in regulation of phospholipase activity PubMed 
    involved_in regulation of presynapse assembly PubMed 
    involved_in regulation of reactive oxygen species biosynthetic process PubMed 
    involved_in regulation of synaptic vesicle recycling PubMed 
    involved_in regulation of transmembrane transporter activity PubMed 
    involved_in response to interleukin-1 PubMed 
    involved_in response to iron(II) ion PubMed 
    involved_in response to lipopolysaccharide PubMed 
    involved_in response to magnesium ion PubMed 
    involved_in response to type II interferon PubMed 
    involved_in response to xenobiotic stimulus  
    involved_in supramolecular fiber organization PubMed 
    involved_in synapse organization  
    involved_in synaptic vesicle endocytosis  
    involved_in synaptic vesicle endocytosis  
    involved_in synaptic vesicle exocytosis PubMed 
    involved_in synaptic vesicle priming PubMed 
    involved_in synaptic vesicle transport  
    Items 1 - 25 of 76
    Items 1 - 20 of 25
    Component Evidence Code Pubs
    located_in actin cytoskeleton PubMed 
    located_in axon PubMed 
    is_active_in axon terminus  
    located_in cell cortex PubMed 
    is_active_in cytoplasm  
    located_in cytoplasm PubMed 
    located_in cytosol PubMed 
    located_in cytosol  
    located_in extracellular region PubMed 
    located_in extracellular region  
    located_in extracellular space PubMed 
    located_in growth cone PubMed 
    located_in inclusion body PubMed 
    located_in lysosome PubMed 
    located_in membrane PubMed 
    located_in mitochondrion PubMed 
    is_active_in neuronal cell body  
    located_in nucleus PubMed 
    located_in perinuclear region of cytoplasm PubMed 
    located_in plasma membrane PubMed 
    colocalizes_with platelet alpha granule membrane PubMed 
    located_in postsynapse  
    part_of protein-containing complex PubMed 
    located_in supramolecular fiber PubMed 
    located_in synaptic vesicle membrane  
    Items 1 - 20 of 25

    General protein information

    Preferred Names
    alpha-synuclein
    Names
    I+/--synuclein
    non A-beta component of AD amyloid
    synuclein alpha-140
    synuclein, alpha (non A4 component of amyloid precursor)

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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
      6136..119198
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_000345.4 → NP_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
      A8K2A4, P37840, Q13701, Q4JHI3, Q6IAU6
      UniProtKB/TrEMBL
      A0A669KBH5
      Related
      ENSP00000378442.4, ENST00000394991.8
      Conserved Domains (1) summary
      pfam01387
      Location:1 → 131
      Synuclein
    2. NM_001146054.2 → NP_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
      A8K2A4, P37840, Q13701, Q4JHI3, Q6IAU6
      UniProtKB/TrEMBL
      A0A669KBH5
      Related
      ENSP00000378437.1, ENST00000394986.5
      Conserved Domains (1) summary
      pfam01387
      Location:1 → 131
      Synuclein
    3. NM_001146055.2 → NP_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)
      AC093759, AC097478, DA391115
      Consensus CDS
      CCDS3634.1
      UniProtKB/Swiss-Prot
      A8K2A4, P37840, Q13701, Q4JHI3, Q6IAU6
      UniProtKB/TrEMBL
      A0A669KBH5
      Related
      ENSP00000338345.3, ENST00000336904.7
      Conserved Domains (1) summary
      pfam01387
      Location:1 → 131
      Synuclein
    4. NM_001375285.1 → NP_001362214.1  alpha-synuclein isoform NACP140

      Status: REVIEWED

      Description
      Transcript Variant: This variant (5), as well as variants 1-3 and 6-8, encodes isoform NACP140.
      Source sequence(s)
      AC093759, AC097478
      Consensus CDS
      CCDS3634.1
      UniProtKB/Swiss-Prot
      A8K2A4, P37840, Q13701, Q4JHI3, Q6IAU6
      UniProtKB/TrEMBL
      A0A669KBH5
      Conserved Domains (1) summary
      pfam01387
      Location:1 → 131
      Synuclein
    5. NM_001375286.1 → NP_001362215.1  alpha-synuclein isoform NACP140

      Status: REVIEWED

      Description
      Transcript Variant: This variant (6), as well as variants 1-3, 5, 7, and 8, encodes isoform NACP140.
      Source sequence(s)
      AC093759, AC097478
      Consensus CDS
      CCDS3634.1
      UniProtKB/Swiss-Prot
      A8K2A4, P37840, Q13701, Q4JHI3, Q6IAU6
      UniProtKB/TrEMBL
      A0A669KBH5
      Related
      ENSP00000422238.1, ENST00000506244.5
      Conserved Domains (1) summary
      pfam01387
      Location:1 → 131
      Synuclein
    6. NM_001375287.1 → NP_001362216.1  alpha-synuclein isoform NACP140

      Status: REVIEWED

      Description
      Transcript Variant: This variant (7), as well as variants 1-3, 5, 6, and 8, encodes isoform NACP140.
      Source sequence(s)
      AC093759, AC097478
      Consensus CDS
      CCDS3634.1
      UniProtKB/Swiss-Prot
      A8K2A4, P37840, Q13701, Q4JHI3, Q6IAU6
      UniProtKB/TrEMBL
      A0A669KBH5
      Related
      ENSP00000500990.1, ENST00000673718.1
      Conserved Domains (1) summary
      pfam01387
      Location:1 → 131
      Synuclein
    7. NM_001375288.1 → NP_001362217.1  alpha-synuclein isoform NACP140

      Status: REVIEWED

      Description
      Transcript Variant: This variant (8), as well as variants 1-3 and 5-7, encodes isoform NACP140.
      Source sequence(s)
      AC093759, AC097478
      Consensus CDS
      CCDS3634.1
      UniProtKB/Swiss-Prot
      A8K2A4, P37840, Q13701, Q4JHI3, Q6IAU6
      UniProtKB/TrEMBL
      A0A669KBH5
      Related
      ENSP00000426955.1, ENST00000508895.5
      Conserved Domains (1) summary
      pfam01387
      Location:1 → 131
      Synuclein
    8. NM_001375290.1 → NP_001362219.1  alpha-synuclein isoform 3

      Status: REVIEWED

      Source sequence(s)
      AC097478
      Related
      ENST00000673766.1
      Conserved Domains (1) summary
      pfam01387
      Location:54 → 83
      Synuclein
    9. NM_007308.3 → NP_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, Q4W5L2
      Related
      ENSP00000396241.2, ENST00000420646.6
      Conserved Domains (1) summary
      pfam01387
      Location:1 → 112
      Synuclein

    RNA

    1. NR_164674.1 RNA Sequence

      Status: REVIEWED

      Source sequence(s)
      AC093759, AC097478
    2. NR_164675.1 RNA Sequence

      Status: REVIEWED

      Source sequence(s)
      AC093759, AC097478
    3. NR_164676.1 RNA Sequence

      Status: REVIEWED

      Source sequence(s)
      AC093759, AC097478

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000004.12 Reference GRCh38.p14 Primary Assembly

      Range
      89724099..89838304 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011532205.3 → XP_011530507.1  alpha-synuclein isoform X1

      See identical proteins and their annotated locations for XP_011530507.1

      Conserved Domains (1) summary
      pfam01387
      Location:1 → 118
      Synuclein; Synuclein
    2. XM_011532206.2 → XP_011530508.1  alpha-synuclein isoform X1

      See identical proteins and their annotated locations for XP_011530508.1

      Conserved Domains (1) summary
      pfam01387
      Location:1 → 118
      Synuclein; Synuclein
    3. XM_011532203.2 → XP_011530505.1  alpha-synuclein isoform X1

      See identical proteins and their annotated locations for XP_011530505.1

      Conserved Domains (1) summary
      pfam01387
      Location:1 → 118
      Synuclein; Synuclein
    4. XM_011532204.4 → XP_011530506.1  alpha-synuclein isoform X1

      See identical proteins and their annotated locations for XP_011530506.1

      Conserved Domains (1) summary
      pfam01387
      Location:1 → 118
      Synuclein; Synuclein
    5. XM_047416097.1 → XP_047272053.1  alpha-synuclein isoform X1

    6. XM_011532207.2 → XP_011530509.1  alpha-synuclein isoform X1

      See identical proteins and their annotated locations for XP_011530509.1

      Conserved Domains (1) summary
      pfam01387
      Location:1 → 118
      Synuclein; Synuclein

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060928.1 Alternate T2T-CHM13v2.0

      Range
      93055378..93169553 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054350746.1 → XP_054206721.1  alpha-synuclein isoform X1

    2. XM_054350747.1 → XP_054206722.1  alpha-synuclein isoform X1

    3. XM_054350744.1 → XP_054206719.1  alpha-synuclein isoform X1

    4. XM_054350745.1 → XP_054206720.1  alpha-synuclein isoform X1

    5. XM_054350749.1 → XP_054206724.1  alpha-synuclein isoform X1

    6. XM_054350748.1 → XP_054206723.1  alpha-synuclein isoform X1

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