ENSG00000145335


Homo sapiens

Features
Gene ID: ENSG00000145335
  
Biological name :SNCA
  
Synonyms : P37840 / SNCA / synuclein alpha
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: 4
Strand: -1
Band: q22.1
Gene start: 89724099
Gene end: 89838315
  
Corresponding Affymetrix probe sets: 204466_s_at (Human Genome U133 Plus 2.0 Array)   204467_s_at (Human Genome U133 Plus 2.0 Array)   207827_x_at (Human Genome U133 Plus 2.0 Array)   211546_x_at (Human Genome U133 Plus 2.0 Array)   236081_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000426955
Ensembl peptide - ENSP00000426034
Ensembl peptide - ENSP00000479604
Ensembl peptide - ENSP00000484044
Ensembl peptide - ENSP00000338345
Ensembl peptide - ENSP00000343683
Ensembl peptide - ENSP00000378437
Ensembl peptide - ENSP00000378440
Ensembl peptide - ENSP00000378442
Ensembl peptide - ENSP00000396241
Ensembl peptide - ENSP00000421485
Ensembl peptide - ENSP00000422238
Ensembl peptide - ENSP00000423445
NCBI entrez gene - 6622     See in Manteia.
OMIM - 163890
RefSeq - XM_017008563
RefSeq - NM_001146054
RefSeq - NM_001146055
RefSeq - NM_007308
RefSeq - XM_011532203
RefSeq - XM_011532204
RefSeq - XM_011532205
RefSeq - XM_011532206
RefSeq - XM_011532207
RefSeq - XM_011532208
RefSeq - XM_017008562
RefSeq - NM_000345
RefSeq Peptide - NP_001139526
RefSeq Peptide - NP_001139527
RefSeq Peptide - NP_009292
RefSeq Peptide - NP_000336
swissprot - D6RA31
swissprot - E7EPV7
swissprot - P37840
swissprot - H6UYS0
swissprot - H6UYS5
swissprot - H6UYS7
Ensembl - ENSG00000145335
  
Related genetic diseases (OMIM): 127750 - Dementia, Lewy body, 127750
  168601 - Parkinson disease 1, 168601
  605543 - Parkinson disease 4, 605543
See expression report in BioGPS
See gene description in Wikigenes
See gene description in GeneCards
See co-cited genes in PubMed


Ortholog prediction (from Ensembl)
Ortholog nameID Species
 SNCAENSGALG00000010379Gallus gallus
 SncaENSMUSG00000025889Mus musculus


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
SNCB / Q16143 / synuclein betaENSG0000007431762
SNCG / O76070 / synuclein gammaENSG0000017326751


Protein motifs (from Interpro)
Interpro ID Name
 IPR001058  Synuclein
 IPR002460  Alpha-synuclein


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0000122 negative regulation of transcription by RNA polymerase II TAS
 biological_processGO:0001774 microglial cell activation TAS
 biological_processGO:0001921 positive regulation of receptor recycling IDA
 biological_processGO:0001933 negative regulation of protein phosphorylation IEA
 biological_processGO:0001956 positive regulation of neurotransmitter secretion IEA
 biological_processGO:0001963 synaptic transmission, dopaminergic IEA
 biological_processGO:0006631 fatty acid metabolic process IEA
 biological_processGO:0006638 neutral lipid metabolic process IEA
 biological_processGO:0006644 phospholipid metabolic process IEA
 biological_processGO:0006915 apoptotic process IEA
 biological_processGO:0006919 activation of cysteine-type endopeptidase activity involved in apoptotic process IDA
 biological_processGO:0007006 mitochondrial membrane organization IEA
 biological_processGO:0007268 chemical synaptic transmission IEA
 biological_processGO:0007568 aging IEA
 biological_processGO:0008344 adult locomotory behavior IEA
 biological_processGO:0010040 response to iron(II) ion IDA
 biological_processGO:0010517 regulation of phospholipase activity IDA
 biological_processGO:0010642 negative regulation of platelet-derived growth factor receptor signaling pathway IDA
 biological_processGO:0014048 regulation of glutamate secretion IEA
 biological_processGO:0014059 regulation of dopamine secretion TAS
 biological_processGO:0031115 negative regulation of microtubule polymerization IDA
 biological_processGO:0031623 receptor internalization IDA
 biological_processGO:0031648 protein destabilization IDA
 biological_processGO:0032026 response to magnesium ion IDA
 biological_processGO:0032410 negative regulation of transporter activity IDA
 biological_processGO:0032496 response to lipopolysaccharide IDA
 biological_processGO:0032769 negative regulation of monooxygenase activity IDA
 biological_processGO:0033138 positive regulation of peptidyl-serine phosphorylation ISS
 biological_processGO:0034341 response to interferon-gamma IDA
 biological_processGO:0034599 cellular response to oxidative stress IC
 biological_processGO:0035067 negative regulation of histone acetylation IDA
 biological_processGO:0040012 regulation of locomotion IEA
 biological_processGO:0042220 response to cocaine IEA
 biological_processGO:0042416 dopamine biosynthetic process TAS
 biological_processGO:0042417 dopamine metabolic process IEA
 biological_processGO:0042493 response to drug IEA
 biological_processGO:0042775 mitochondrial ATP synthesis coupled electron transport IEA
 biological_processGO:0043030 regulation of macrophage activation IEA
 biological_processGO:0043065 positive regulation of apoptotic process TAS
 biological_processGO:0043066 negative regulation of apoptotic process IMP
 biological_processGO:0043154 negative regulation of cysteine-type endopeptidase activity involved in apoptotic process IMP
 biological_processGO:0043524 negative regulation of neuron apoptotic process IEA
 biological_processGO:0044267 cellular protein metabolic process TAS
 biological_processGO:0044344 cellular response to fibroblast growth factor stimulus IEA
 biological_processGO:0045807 positive regulation of endocytosis IDA
 biological_processGO:0045920 negative regulation of exocytosis IMP
 biological_processGO:0045963 negative regulation of dopamine metabolic process IEA
 biological_processGO:0046928 regulation of neurotransmitter secretion IEA
 biological_processGO:0048148 behavioral response to cocaine IEA
 biological_processGO:0048168 regulation of neuronal synaptic plasticity IEA
 biological_processGO:0048169 regulation of long-term neuronal synaptic plasticity IEA
 biological_processGO:0048488 synaptic vesicle endocytosis ISS
 biological_processGO:0048489 synaptic vesicle transport IEA
 biological_processGO:0050729 positive regulation of inflammatory response IDA
 biological_processGO:0050806 positive regulation of synaptic transmission IEA
 biological_processGO:0050808 synapse organization IEA
 biological_processGO:0050812 regulation of acyl-CoA biosynthetic process IEA
 biological_processGO:0051281 positive regulation of release of sequestered calcium ion into cytosol IDA
 biological_processGO:0051583 dopamine uptake involved in synaptic transmission TAS
 biological_processGO:0051585 negative regulation of dopamine uptake involved in synaptic transmission IDA
 biological_processGO:0051612 negative regulation of serotonin uptake IDA
 biological_processGO:0051622 negative regulation of norepinephrine uptake IDA
 biological_processGO:0055114 oxidation-reduction process IDA
 biological_processGO:0060079 excitatory postsynaptic potential IEA
 biological_processGO:0060291 long-term synaptic potentiation IEA
 biological_processGO:0060732 positive regulation of inositol phosphate biosynthetic process IDA
 biological_processGO:0061024 membrane organization IEA
 biological_processGO:0070495 negative regulation of thrombin-activated receptor signaling pathway IDA
 biological_processGO:0070555 response to interleukin-1 IDA
 biological_processGO:0071280 cellular response to copper ion IDA
 biological_processGO:0071872 cellular response to epinephrine stimulus TAS
 biological_processGO:0071902 positive regulation of protein serine/threonine kinase activity IDA
 biological_processGO:0097435 supramolecular fiber organization TAS
 biological_processGO:1901214 regulation of neuron death IEA
 biological_processGO:1901215 negative regulation of neuron death IDA
 biological_processGO:1901216 positive regulation of neuron death IDA
 biological_processGO:1902957 negative regulation of mitochondrial electron transport, NADH to ubiquinone TAS
 biological_processGO:1903284 positive regulation of glutathione peroxidase activity IDA
 biological_processGO:1903285 positive regulation of hydrogen peroxide catabolic process IDA
 biological_processGO:1903421 regulation of synaptic vesicle recycling TAS
 biological_processGO:1903426 regulation of reactive oxygen species biosynthetic process TAS
 biological_processGO:1904715 negative regulation of chaperone-mediated autophagy IMP
 biological_processGO:1905606 regulation of presynapse assembly IGI
 biological_processGO:2000377 regulation of reactive oxygen species metabolic process IEA
 cellular_componentGO:0005576 extracellular region IDA
 cellular_componentGO:0005615 extracellular space IDA
 cellular_componentGO:0005634 nucleus IEA
 cellular_componentGO:0005640 nuclear outer membrane IEA
 cellular_componentGO:0005737 cytoplasm IDA
 cellular_componentGO:0005739 mitochondrion TAS
 cellular_componentGO:0005747 mitochondrial respiratory chain complex I TAS
 cellular_componentGO:0005764 lysosome TAS
 cellular_componentGO:0005791 rough endoplasmic reticulum IEA
 cellular_componentGO:0005794 Golgi apparatus IEA
 cellular_componentGO:0005829 cytosol TAS
 cellular_componentGO:0005840 ribosome IEA
 cellular_componentGO:0005856 cytoskeleton IEA
 cellular_componentGO:0005886 plasma membrane IDA
 cellular_componentGO:0005938 cell cortex IDA
 cellular_componentGO:0008021 synaptic vesicle IEA
 cellular_componentGO:0015629 actin cytoskeleton IDA
 cellular_componentGO:0016020 membrane IEA
 cellular_componentGO:0016234 inclusion body IDA
 cellular_componentGO:0030054 cell junction IEA
 cellular_componentGO:0030424 axon IDA
 cellular_componentGO:0030426 growth cone IDA
 cellular_componentGO:0030659 cytoplasmic vesicle membrane IEA
 cellular_componentGO:0031092 platelet alpha granule membrane IDA
 cellular_componentGO:0043025 neuronal cell body IEA
 cellular_componentGO:0043195 terminal bouton IEA
 cellular_componentGO:0043231 intracellular membrane-bounded organelle IEA
 cellular_componentGO:0043679 axon terminus IEA
 cellular_componentGO:0045202 synapse IEA
 cellular_componentGO:0048471 perinuclear region of cytoplasm IDA
 cellular_componentGO:0098794 postsynapse IEA
 cellular_componentGO:0099512 supramolecular fiber IDA
 molecular_functionGO:0000287 magnesium ion binding IDA
 molecular_functionGO:0005507 copper ion binding IDA
 molecular_functionGO:0005509 calcium ion binding IDA
 molecular_functionGO:0005515 protein binding IPI
 molecular_functionGO:0005543 phospholipid binding IDA
 molecular_functionGO:0008017 microtubule binding IEA
 molecular_functionGO:0008198 ferrous iron binding IDA
 molecular_functionGO:0008270 zinc ion binding IDA
 molecular_functionGO:0016491 oxidoreductase activity IDA
 molecular_functionGO:0019894 kinesin binding IPI
 molecular_functionGO:0019899 enzyme binding IEA
 molecular_functionGO:0019904 protein domain specific binding IEA
 molecular_functionGO:0030544 Hsp70 protein binding IPI
 molecular_functionGO:0042393 histone binding IDA
 molecular_functionGO:0042802 identical protein binding IDA
 molecular_functionGO:0043014 alpha-tubulin binding IPI
 molecular_functionGO:0043027 cysteine-type endopeptidase inhibitor activity involved in apoptotic process IDA
 molecular_functionGO:0043274 phospholipase binding IEA
 molecular_functionGO:0044212 transcription regulatory region DNA binding TAS
 molecular_functionGO:0046872 metal ion binding IEA
 molecular_functionGO:0047485 protein N-terminus binding IEA
 molecular_functionGO:0048156 tau protein binding IDA
 molecular_functionGO:0048487 beta-tubulin binding IEA
 molecular_functionGO:0051219 phosphoprotein binding IDA
 molecular_functionGO:0070840 dynein complex binding IPI
 molecular_functionGO:1903136 cuprous ion binding IMP


Pathways (from Reactome)
Pathway description
Amyloid fiber formation


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
 HP:0000006 Autosomal dominant inheritance "A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele." [HPO:curators]
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 HP:0000012 Urinary urgency 
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 HP:0000716 Depression "A condition characterized by pervasive dysphoric mood, loss of interests, and inability to experience pleasure." [HPO:curators]
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 HP:0000726 Dementia 
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 HP:0000738 Hallucinations 
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 HP:0000746 Delusions 
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 HP:0001260 Dysarthria "Dysarthric speech is a general description referring to a neurological speech disorder characterized by poor articulation. Depending on the involved neurological structures, dysarthria may be further classified as spastic, flaccid, ataxic, hyperkinetic and hypokinetic, or mixed." [HPO:curators]
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 HP:0001268 Mental deterioration 
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 HP:0001278 Orthostatic hypotension "A form of hypotension characterized by a sudden fall in blood pressure that occurs when a person assumes a standing position." [HPO:curators]
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 HP:0001300 Parkinsonism 
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 HP:0001332 Dystonia "An abnormally increased muscular tone that causes fixed abnormal postures. There is a slow, intermittent twisting motion that leads to exaggerated turning and posture of the extremities and trunk." [HPO:curators]
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 HP:0001336 Myoclonus "Very brief, involuntary random muscular contractions occurring at rest, in response to sensory stimuli, or accompanying voluntary movements." [HPO:curators]
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 HP:0001824 Weight loss 
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 HP:0002015 Dysphagia "Difficulty in swallowing." [HPO:curators]
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 HP:0002063 Rigidity 
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 HP:0002067 Bradykinesia "Bradykinesia literally means slow movement, and is used clinically to denote a slowness in the execution of movement (in contrast to hypokinesia, which is used to refer to slowness in the initiation of movement)." [HPO:curators]
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 HP:0002172 Postural instability 
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 HP:0002322 Resting tremor "A resting tremor occurs when muscles are at rest and becomes less noticeable or disappears when the affected muscles are moved. Resting tremors are often slow and coarse." [HPO:curators]
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 HP:0002360 Sleep disturbances "An abnormality of sleep including such phenomena as 1) insomnia/hypersomnia, 2) non-restorative sleep, 3) sleep schedule disorder, 4) excessive daytime somnolence, 5) sleep apnea, and 6) restlessness." [HPO:curators]
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 HP:0002362 Shuffling gait 
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 HP:0002367 Visual hallucinations 
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 HP:0002375 Hypokinesia 
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 HP:0002459 Dysautonomia 
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 HP:0003587 Insidious onset 
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 HP:0003596 Middle age onset 
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 HP:0003676 Progressive disorder 
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 HP:0003678 Rapidly progressive 
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 HP:0007159 Fluctuations in consciousness 
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 HP:0011999 Paranoia "A persecutory delusion of supposed hostility of others." [HPO:probinson]
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 HP:0100315 Lewy bodies 
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Interacting proteins (from Reactome)
Interactor ID Name Interaction type
 ENSG00000064692 Q9Y6H5 / SNCAIP / synuclein alpha interacting protein  / reaction / complex
 ENSG00000181788 SIAH2 / O43255 / siah E3 ubiquitin protein ligase 2  / complex / reaction
 ENSG00000156587 O14933 / UBE2L6 / ubiquitin conjugating enzyme E2 L6  / reaction / complex
 ENSG00000124486 USP9X / Q93008 / ubiquitin specific peptidase 9, X-linked  / complex / reaction
 ENSG00000145335 SNCA / P37840 / synuclein alpha  / -
 ENSG00000196470 SIAH1 / Q8IUQ4 / siah E3 ubiquitin protein ligase 1  / complex / reaction






 

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