ENSG00000008056


Homo sapiens

Features
Gene ID: ENSG00000008056
  
Biological name :SYN1
  
Synonyms : P17600 / SYN1 / synapsin I
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: X
Strand: -1
Band: p11.23
Gene start: 47571898
Gene end: 47619943
  
Corresponding Affymetrix probe sets: 1553264_a_at (Human Genome U133 Plus 2.0 Array)   221914_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000343206
Ensembl peptide - ENSP00000492857
Ensembl peptide - ENSP00000492521
Ensembl peptide - ENSP00000295987
NCBI entrez gene - 6853     See in Manteia.
OMIM - 313440
RefSeq - NM_133499
RefSeq - NM_006950
RefSeq Peptide - NP_008881
RefSeq Peptide - NP_598006
swissprot - P17600
swissprot - A0A1W2PSE9
swissprot - A0A1W2PS00
Ensembl - ENSG00000008056
  
Related genetic diseases (OMIM): 300491 - Epilepsy, X-linked, with variable learning disabilities and behavior disorders, 300491
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
 syn1ENSDARG00000060368Danio rerio
 Syn1ENSMUSG00000037217Mus musculus


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
SYN2 / synapsin IIENSG0000015715251
SYN3 / O14994 / synapsin IIIENSG0000018566646


Protein motifs (from Interpro)
Interpro ID Name
 IPR001359  Synapsin
 IPR013815  ATP-grasp fold, subdomain 1
 IPR016185  Pre-ATP-grasp domain superfamily
 IPR019735  Synapsin, conserved site
 IPR019736  Synapsin, phosphorylation site
 IPR020897  Synapsin, pre-ATP-grasp domain
 IPR020898  Synapsin, ATP-binding domain
 IPR028713  Synapsin-1


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0007268 chemical synaptic transmission TAS
 biological_processGO:0007269 neurotransmitter secretion IEA
 biological_processGO:0046928 regulation of neurotransmitter secretion TAS
 biological_processGO:0097091 synaptic vesicle clustering IEA
 biological_processGO:2000300 regulation of synaptic vesicle exocytosis NAS
 cellular_componentGO:0000795 synaptonemal complex IEA
 cellular_componentGO:0005794 Golgi apparatus IEA
 cellular_componentGO:0005829 cytosol IEA
 cellular_componentGO:0005856 cytoskeleton IDA
 cellular_componentGO:0008021 synaptic vesicle IEA
 cellular_componentGO:0014069 postsynaptic density IEA
 cellular_componentGO:0030054 cell junction IEA
 cellular_componentGO:0030424 axon IEA
 cellular_componentGO:0030425 dendrite IEA
 cellular_componentGO:0030672 synaptic vesicle membrane IEA
 cellular_componentGO:0043195 terminal bouton IEA
 cellular_componentGO:0043209 myelin sheath IEA
 cellular_componentGO:0043229 intracellular organelle IEA
 cellular_componentGO:0045202 synapse IEA
 cellular_componentGO:0048786 presynaptic active zone IEA
 cellular_componentGO:0098793 presynapse IEA
 cellular_componentGO:0098993 anchored component of synaptic vesicle membrane IEA
 molecular_functionGO:0003779 actin binding IEA
 molecular_functionGO:0005215 transporter activity TAS
 molecular_functionGO:0005515 protein binding IPI
 molecular_functionGO:0005524 ATP binding TAS
 molecular_functionGO:0019901 protein kinase binding ISS
 molecular_functionGO:0048306 calcium-dependent protein binding IEA


Pathways (from Reactome)
Pathway description
Serotonin Neurotransmitter Release Cycle
Dopamine Neurotransmitter Release Cycle


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
 HP:0000256 Macrocephaly "The presence of an abnormally large `skull` (FMA:46565)." [HPO:probinson]
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 HP:0000718 Aggressive behavior "Aggressive behavior can denote verbal aggression, physical aggression against objects, physical aggression against people, and may also include aggression towards oneself." [HPO:curators]
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 HP:0000729 Pervasive developmental disorder 
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 HP:0001250 Seizures "Seizures are an intermittent `abnormality of the central nervous system` (FMA:HP:0002011) due to a sudden, excessive, disorderly discharge of cerebral neurons and characterized clinically by some combination of disturbance of sensation, loss of consciousness, impairment of psychic function, or convulsive movements." [HPO:probinson]
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 HP:0001328 Learning disability 
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 HP:0001419 X-linked recessive inheritance "A mode of inheritance that is observed for recessive traits related to a gene encoded on the X chromosome. In the context of medical genetics, X-linked recessive disorders manifest in males (who have one copy of the X chromosome and are thus hemizygotes), but generally not in female heterozygotes who have one mutant and one normal allele." [HPO:curators]
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 HP:0001423 X-linked dominant inheritance "A mode of inheritance that is observed for dominant traits related to a gene encoded on the X chromosome. In the context of medical genetics, X-linked dominant disorders tend to manifest very severely in affected males. The severity of manifestation in females may depend on the degree of skewed X inactivation." [HPO:curators]
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 HP:0007359 Partial seizures "Recurrent partial `seizures` (HP:0001250). In a partial seizure, the electrical disturbance is limited to one part or side of the brain. That is, partial epilepsies are epileptic disorders in which clinical or laboratory findings disclose a localized origin of seizures." [HPO:curators]
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Interacting proteins (from Reactome)
Interactor ID Name Interaction type
No match






 

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