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SNCB synuclein beta [ Homo sapiens (human) ]

Gene ID: 6620, updated on 12-May-2016
Official Symbol
SNCBprovided by HGNC
Official Full Name
synuclein betaprovided by HGNC
Primary source
HGNC:HGNC:11140
See related
Ensembl:ENSG00000074317 HPRD:03980; MIM:602569; Vega:OTTHUMG00000130661
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
Summary
This gene encodes a member of a small family of proteins that inhibit phospholipase D2 and may function in neuronal plasticity. The encoded protein is abundant in lesions of patients with Alzheimer disease. A mutation in this gene was found in individuals with dementia with Lewy bodies. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2015]
Orthologs
Location:
5q35
Exon count:
7
Annotation release Status Assembly Chr Location
107 current GRCh38.p2 (GCF_000001405.28) 5 NC_000005.10 (176620209..176630556, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 5 NC_000005.9 (176047210..176057557, complement)

Chromosome 5 - NC_000005.10Genomic Context describing neighboring genes Neighboring gene ring finger protein 44 Neighboring gene cadherin related family member 2 Neighboring gene G protein regulated inducer of neurite outgrowth 1 Neighboring gene microRNA 4281 Neighboring gene eukaryotic translation initiation factor 4E family member 1B Neighboring gene tetraspanin 17

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Products Interactant Other Gene Complex Source Pubs Description

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
alpha-tubulin binding IEA
Inferred from Electronic Annotation
more info
 
beta-tubulin binding IEA
Inferred from Electronic Annotation
more info
 
calcium ion binding IDA
Inferred from Direct Assay
more info
PubMed 
phospholipase inhibitor activity TAS
Traceable Author Statement
more info
PubMed 
Process Evidence Code Pubs
dopamine metabolic process IEA
Inferred from Electronic Annotation
more info
 
negative regulation of catalytic activity IEA
Inferred from Electronic Annotation
more info
 
negative regulation of neuron apoptotic process IEA
Inferred from Electronic Annotation
more info
 
synapse organization IEA
Inferred from Electronic Annotation
more info
 
synaptic transmission IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
Golgi apparatus IDA
Inferred from Direct Assay
more info
 
cytoplasm IDA
Inferred from Direct Assay
more info
 
growth cone IEA
Inferred from Electronic Annotation
more info
 
inclusion body IDA
Inferred from Direct Assay
more info
PubMed 
mitochondrion IEA
Inferred from Electronic Annotation
more info
 
neuronal cell body IEA
Inferred from Electronic Annotation
more info
 
nucleoplasm IDA
Inferred from Direct Assay
more info
 
terminal bouton IEA
Inferred from Electronic Annotation
more info
 

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_012131.1 RefSeqGene

    Range
    4996..15473
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001001502.2NP_001001502.1  beta-synuclein isoform 1

    See identical proteins and their annotated locations for NP_001001502.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (1). Variants 1 and 2 encode the same protein (isoform 1).
    Source sequence(s)
    BC002902, BM543516, BQ184193, S69965
    Consensus CDS
    CCDS4406.1
    UniProtKB/Swiss-Prot
    Q16143
    Related
    ENSP00000308057, OTTHUMP00000161244, ENST00000310112, OTTHUMT00000253152
    Conserved Domains (1) summary
    pfam01387
    Location:1121
    Synuclein; Synuclein
  2. NM_001318034.1NP_001304963.1  beta-synuclein isoform 2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) lacks an alternate in-frame exon compared to variant 1. The encoded isoform (2) is shorter than isoform 1. Variants 3 and 5 encode the same protein (isoform 2).
    Source sequence(s)
    BM543516, BQ184193, JF960950
    UniProtKB/TrEMBL
    G4Y816
    Conserved Domains (1) summary
    pfam01387
    Location:1107
    Synuclein; Synuclein
  3. NM_001318035.1NP_001304964.1  beta-synuclein isoform 3

    Status: REVIEWED

    Description
    Transcript Variant: This variant (4) lacks an alternate in-frame exon compared to variant 1. The encoded isoform (3) is shorter than isoform 1. Both variants 4 and 6 encode the same protein (isoform 3).
    Source sequence(s)
    BM543516, BQ184193, JF960951
    UniProtKB/TrEMBL
    G4Y815
    Conserved Domains (1) summary
    pfam01387
    Location:199
    Synuclein; Synuclein
  4. NM_001318036.1NP_001304965.1  beta-synuclein isoform 2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (5) lacks exons in the 5' UTR and coding region compared to variant 1. The encoded isoform (2) is shorter than isoform 1. Variants 3 and 5 encode the same isoform (2).
    Source sequence(s)
    BM543516, BQ184193, JF960952
    UniProtKB/TrEMBL
    G4Y816
    Conserved Domains (1) summary
    pfam01387
    Location:1107
    Synuclein; Synuclein
  5. NM_001318037.1NP_001304966.1  beta-synuclein isoform 3

    Status: REVIEWED

    Description
    Transcript Variant: This variant (6) lacks exons in the 5' UTR and coding region compared to variant 1. The encoded isoform (3) is shorter than isoform 1. Variants 4 and 6 encode the same isoform (3).
    Source sequence(s)
    BM543516, BQ184193, JF960953
    UniProtKB/TrEMBL
    G4Y815
    Conserved Domains (1) summary
    pfam01387
    Location:199
    Synuclein; Synuclein
  6. NM_003085.4NP_003076.1  beta-synuclein isoform 1

    See identical proteins and their annotated locations for NP_003076.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) lacks an exon in the 5' UTR compared to variant 1. Variants 1 and 2 encode the same protein (isoform 1).
    Source sequence(s)
    BC002902, BM543516, BQ184193, S69965
    Consensus CDS
    CCDS4406.1
    UniProtKB/Swiss-Prot
    Q16143
    Related
    ENSP00000377296, OTTHUMP00000223368, ENST00000393693, OTTHUMT00000372169
    Conserved Domains (1) summary
    pfam01387
    Location:1121
    Synuclein; Synuclein

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 107 details...

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

Reference GRCh38.p2 Primary Assembly

Genomic

  1. NC_000005.10 Reference GRCh38.p2 Primary Assembly

    Range
    176620209..176630556 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_006714916.1XP_006714979.1  

    See identical proteins and their annotated locations for XP_006714979.1

    UniProtKB/Swiss-Prot
    Q16143
    Related
    ENSP00000424073, OTTHUMP00000223370, ENST00000510387, OTTHUMT00000372172
    Conserved Domains (1) summary
    pfam01387
    Location:1121
    Synuclein; Synuclein
  2. XM_006714914.2XP_006714977.1  

    See identical proteins and their annotated locations for XP_006714977.1

    Conserved Domains (1) summary
    pfam01387
    Location:1124
    Synuclein; Synuclein
  3. XM_011534640.1XP_011532942.1  

    See identical proteins and their annotated locations for XP_011532942.1

    Conserved Domains (1) summary
    pfam01387
    Location:1124
    Synuclein; Synuclein
  4. XM_006714915.2XP_006714978.1  

    See identical proteins and their annotated locations for XP_006714978.1

    Conserved Domains (1) summary
    pfam01387
    Location:1124
    Synuclein; Synuclein

Alternate CHM1_1.1

Genomic

  1. NC_018916.2 Alternate CHM1_1.1

    Range
    175479633..175489981 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)