ENSG00000064692


Homo sapiens

Features
Gene ID: ENSG00000064692
  
Biological name :SNCAIP
  
Synonyms : Q9Y6H5 / SNCAIP / synuclein alpha interacting protein
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: 5
Strand: 1
Band: q23.2
Gene start: 122311354
Gene end: 122464219
  
Corresponding Affymetrix probe sets: 219511_s_at (Human Genome U133 Plus 2.0 Array)   237833_s_at (Human Genome U133 Plus 2.0 Array)   237834_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000426551
Ensembl peptide - ENSP00000426526
Ensembl peptide - ENSP00000426904
Ensembl peptide - ENSP00000441681
Ensembl peptide - ENSP00000427587
Ensembl peptide - ENSP00000427575
Ensembl peptide - ENSP00000427090
Ensembl peptide - ENSP00000427078
Ensembl peptide - ENSP00000261367
Ensembl peptide - ENSP00000261368
Ensembl peptide - ENSP00000368854
Ensembl peptide - ENSP00000378849
Ensembl peptide - ENSP00000378852
Ensembl peptide - ENSP00000394392
Ensembl peptide - ENSP00000422106
Ensembl peptide - ENSP00000422610
Ensembl peptide - ENSP00000423360
Ensembl peptide - ENSP00000424338
Ensembl peptide - ENSP00000425063
Ensembl peptide - ENSP00000426280
NCBI entrez gene - 9627     See in Manteia.
OMIM - 603779
RefSeq - XM_017010086
RefSeq - XM_005272138
RefSeq - XM_005272139
RefSeq - XM_006714734
RefSeq - XM_011543737
RefSeq - XM_011543738
RefSeq - XM_011543739
RefSeq - XM_011543741
RefSeq - XM_011543743
RefSeq - XM_011543745
RefSeq - XM_011543749
RefSeq - XM_011543750
RefSeq - XM_017010078
RefSeq - XM_017010079
RefSeq - XM_017010080
RefSeq - XM_017010081
RefSeq - XM_017010082
RefSeq - XM_017010083
RefSeq - XM_017010084
RefSeq - XM_017010085
RefSeq - NM_001242935
RefSeq - NM_001308100
RefSeq - NM_001308105
RefSeq - NM_001308106
RefSeq - NM_001308107
RefSeq - NM_001308108
RefSeq - NM_001308109
RefSeq - NM_005460
RefSeq Peptide - NP_001295038
RefSeq Peptide - NP_005451
RefSeq Peptide - NP_001229864
RefSeq Peptide - NP_001295029
RefSeq Peptide - NP_001295034
RefSeq Peptide - NP_001295035
RefSeq Peptide - NP_001295036
RefSeq Peptide - NP_001295037
swissprot - Q6L983
swissprot - Q9Y6H5
swissprot - D6R9G8
swissprot - Q6L982
swissprot - D6RFL3
swissprot - D6REC1
swissprot - D6RD29
swissprot - D6RBR2
swissprot - Q6L980
swissprot - Q6L981
swissprot - D6RHX3
Ensembl - ENSG00000064692
  
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
 sncaipENSDARG00000100198Danio rerio
 SNCAIPENSGALG00000005330Gallus gallus
 SncaipENSMUSG00000024534Mus musculus


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
No match


Protein motifs (from Interpro)
Interpro ID Name
 IPR002110  Ankyrin repeat
 IPR020683  Ankyrin repeat-containing domain
 IPR032027  Synphilin-1, alpha-Synuclein-binding domain
 IPR036770  Ankyrin repeat-containing domain superfamily


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0008219 cell death IDA
 biological_processGO:0042417 dopamine metabolic process IDA
 biological_processGO:0044267 cellular protein metabolic process TAS
 biological_processGO:0046928 regulation of neurotransmitter secretion IDA
 biological_processGO:0090083 regulation of inclusion body assembly IDA
 cellular_componentGO:0005654 nucleoplasm IDA
 cellular_componentGO:0005737 cytoplasm IDA
 cellular_componentGO:0005829 cytosol TAS
 cellular_componentGO:0008021 synaptic vesicle TAS
 cellular_componentGO:0036464 cytoplasmic ribonucleoprotein granule IDA
 cellular_componentGO:0042734 presynaptic membrane NAS
 cellular_componentGO:0043025 neuronal cell body NAS
 molecular_functionGO:0005515 protein binding IPI
 molecular_functionGO:0031625 ubiquitin protein ligase binding IPI
 molecular_functionGO:0042802 identical protein binding IPI


Pathways (from Reactome)
Pathway description
Amyloid fiber formation


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
 HP:0000012 Urinary urgency 
Show

 HP:0000298 Mask-like facies 
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 HP:0000716 Depression "A condition characterized by pervasive dysphoric mood, loss of interests, and inability to experience pleasure." [HPO:curators]
Show

 HP:0000726 Dementia 
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 HP:0000738 Hallucinations 
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 HP:0000751 Personality changes 
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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]
Show

 HP:0001300 Parkinsonism 
Show

 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]
Show

 HP:0001337 Tremor "An unintentional, oscillating to-and-fro muscle movement." [HPO:curators]
Show

 HP:0001621 Soft voice 
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 HP:0002015 Dysphagia "Difficulty in swallowing." [HPO:curators]
Show

 HP:0002019 Constipation 
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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]
Show

 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]
Show

 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:0002459 Dysautonomia 
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 HP:0002529 Neuropathology shows neuronal loss in basal ganglia, brainstem, and cerebellum 
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 HP:0003587 Insidious onset 
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 HP:0003676 Progressive disorder 
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 HP:0003745 Sporadic 
Show

 HP:0007311 Short stepped shuffling gait 
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 HP:0011960 Substantia nigra gliosis "The presence of `gliosis` (MPATH:182) in the `substantia nigra` (FMA:67947)." [HPO:probinson]
Show

 HP:0100315 Lewy bodies 
Show

  


Interacting proteins (from Reactome)
Interactor ID Name Interaction type
 ENSG00000185345 PRKN / O60260 / parkin RBR E3 ubiquitin protein ligase  / reaction / complex
 ENSG00000181788 SIAH2 / O43255 / siah E3 ubiquitin protein ligase 2  / complex / reaction
 ENSG00000145335 SNCA / P37840 / synuclein alpha  / reaction / complex
 ENSG00000196470 SIAH1 / Q8IUQ4 / siah E3 ubiquitin protein ligase 1  / reaction / complex






 

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contact: otassy@igbmc.fr