SYN1
entrez
6853
canonical
uniprot
P17600
canonical
ensembl
ENSG00000008056
resolver
ensp
ENSP00000295987
resolver
ensp
ENSP00000343206
resolver
genesymbol
SYN1
resolver
hgnc
HGNC:11494
resolver
uniprot
B1AJQ1
resolver
uniprot
O75825
resolver
uniprot
Q5H9A9
resolver
uniprot_entry
SYN1_HUMAN
resolver
uniprot_sec
B1AJQ1
resolver
uniprot_sec
O75825
resolver
uniprot_sec
Q5H9A9
resolver
amino_acid_sequence
MNYLRRRLSDSNFMANLPNGYMTDLQRPQPPPPPPGAHSPGATPGPGTATAERSSGVAPAASPAAPSPGSSGGGGFFSSLSNAVKQTTAAAAATFSEQVGGGSGGAGRGGAASRVLLVIDEPHTDWAKYFKGKKIHGEIDIKVEQAEFSDLNLVAHANGGFSVDMEVLRNGVKVVRSLKPDFVLIRQHAFSMARNGDYRSLVIGLQYAGIPSVNSLHSVYNFCDKPWVFAQMVRLHKKLGTEEFPLIDQTFYPNHKEMLSSTTYPVVVKMGHAHSGMGKVKVDNQHDFQDIASVVALTKTYATAEPFIDAKYDVRVQKIGQNYKAYMRTSVSGNWKTNTGSAMLEQIAMSDRYKLWVDTCSEIFGGLDICAVEALHGKDGRDHIIEVVGSSMPLIGDHQDEDKQLIVELVVNKMAQALPRQRQRDASPGRGSHGQTPSPGALPLGRQTSQQPAGPPAQQRPPPQGGPPQPGPGPQRQGPPLQQRPPPQGQQHLSGLGPPAGSPLPQRLPSPTSAPQQPASQAAPPTQGQGRQSRPVAGGPGAPPAARPPASPSPQRQAGPPQATRQTSVSGPAPPKASGAPPGGQQRQGPPQKPPGPAGPTRQASQAGPVPRTGPPTTQQPRPSGPGPAGRPKPQLAQKPSQDVPPPATAAAGGPPHPQLNKSQSLTNAFNLPEPAPPRPSLSQDEVKAETIRSLRKSFASLFSD
uniprot
proteins
disease_involvement
DISEASE: Epilepsy, X-linked 1, with variable learning disabilities and behavior disorders (EPILX1) [MIM:300491]: A neurologic disorder characterized by variable combinations of epilepsy, learning difficulties, macrocephaly, and aggressive behavior. {ECO:0000269|PubMed:14985377}. Note=The disease is caused by variants affecting the gene represented in this entry.; DISEASE: Intellectual developmental disorder, X-linked 50 (XLID50) [MIM:300115]: A form of intellectual disability, a disorder characterized by significantly below average general intellectual functioning associated with impairments in adaptive behavior and manifested during the developmental period. Intellectual deficiency is the only primary symptom of non-syndromic X-linked forms, while syndromic forms present with associated physical, neurological and/or psychiatric manifestations. {ECO:0000269|PubMed:21441247, ECO:0000269|PubMed:23406870, ECO:0000269|PubMed:28973667}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: Neuronal phosphoprotein that coats synaptic vesicles, and binds to the cytoskeleton. Acts as a regulator of synaptic vesicles trafficking, involved in the control of neurotransmitter release at the pre-synaptic terminal (PubMed:21441247, PubMed:23406870). Also involved in the regulation of axon outgrowth and synaptogenesis (By similarity). The complex formed with NOS1 and CAPON proteins is necessary for specific nitric-oxid functions at a presynaptic level (By similarity). {ECO:0000250|UniProtKB:O88935, ECO:0000250|UniProtKB:P09951, ECO:0000269|PubMed:21441247, ECO:0000269|PubMed:23406870}.
uniprot
proteins
mass_dalton
74111
uniprot
proteins
post_translational_modification
PTM: Substrate of different protein kinases. Phosphorylated by CaMK2 and MAPK1 (PubMed:21441247). Phosphorylation, including phosphorylation at Ser-9, promotes synapsin-1 dissociation from synaptic vesicles, regulates its rate of dispersion, and controls the kinetics of vesicle pool turnover and neurotransmitter release (By similarity) (PubMed:21441247). {ECO:0000250|UniProtKB:P09951, ECO:0000269|PubMed:21441247}.
uniprot
proteins
protein_family
Synapsin family
uniprot
proteins
pubmed
14985377
uniprot
proteins
pubmed
15772651
uniprot
proteins
pubmed
15822905
uniprot
proteins
pubmed
2110562
uniprot
proteins
pubmed
2118519
uniprot
proteins
pubmed
21406692
uniprot
proteins
pubmed
21441247
uniprot
proteins
pubmed
23406870
uniprot
proteins
pubmed
28973667
uniprot
proteins
sequence_length
705
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Synapse {ECO:0000250|UniProtKB:O88935}. Golgi apparatus {ECO:0000250|UniProtKB:O88935}. Presynapse {ECO:0000269|PubMed:21441247}. Cytoplasmic vesicle, secretory vesicle, synaptic vesicle {ECO:0000250|UniProtKB:P09951}. Note=Dissociates from synaptic vesicles and redistributes into the axon during action potential firing, in a step that precedes fusion of vesicles with the plasma membrane. Reclusters to presynapses after the cessation of synaptic activity. {ECO:0000250|UniProtKB:P09951}.
uniprot
proteins