Free for academic non-profit institutions. Other users need a Commercial license
Syntaxin-1, synaptobrevin/VAMP, and SNAP25 interact to form the SNARE complex, which is required for synaptic vesicle docking and fusion. The protein encoded by this gene is membrane-associated and inhibits SNARE complex formation by binding free syntaxin-1. Expression of this gene appears to be brain-specific. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Dec 2015]
SNPH (Syntaphilin) is a Protein Coding gene. Diseases associated with SNPH include Neuronopathy, Distal Hereditary Motor, Type Viib and Distal Hereditary Motor Neuronopathy Type 7. Gene Ontology (GO) annotations related to this gene include syntaxin-1 binding. An important paralog of this gene is SYBU.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005515 | protein binding | IPI | 32296183 |
GO:0008017 | microtubule binding | IBA | 21873635 |
GO:0017075 | syntaxin-1 binding | NAS | 10707983 |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005737 | cytoplasm | IDA | 15459722 |
GO:0005739 | mitochondrion | IBA | 21873635 |
GO:0005881 | cytoplasmic microtubule | IDA | 23264731 |
GO:0005886 | plasma membrane | IEA | -- |
GO:0016020 | membrane | IEA | -- |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0007269 | neurotransmitter secretion | NAS | 10707983 |
GO:0007420 | brain development | IEA | -- |
GO:0016081 | synaptic vesicle docking | NAS | 10707983 |
GO:0030182 | neuron differentiation | IBA | 21873635 |
ExUns: | 1a | · | 1b | · | 1c | ^ | 2 | ^ | 3 | ^ | 4a | · | 4b | · | 4c | ^ | 5a | · | 5b | ^ | 6 | ^ | 7a | · | 7b | · | 7c |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SP1: | - | ||||||||||||||||||||||||||
SP2: | - | - | - | ||||||||||||||||||||||||
SP3: | - | - | - |
This gene was present in the common ancestor of chordates.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | SNPH 30 31 |
|
OneToOne | |
Cow (Bos Taurus) |
Mammalia | SNPH 30 31 |
|
OneToOne | |
Dog (Canis familiaris) |
Mammalia | SNPH 30 31 |
|
OneToOne | |
Mouse (Mus musculus) |
Mammalia | Snph 30 17 31 |
|
OneToOne | |
Rat (Rattus norvegicus) |
Mammalia | Snph 30 |
|
||
Oppossum (Monodelphis domestica) |
Mammalia | SNPH 31 |
|
OneToOne | |
Chicken (Gallus gallus) |
Aves | SNPH 31 |
|
OneToOne | |
LOC100858058 30 |
|
||||
Lizard (Anolis carolinensis) |
Reptilia | SNPH 31 |
|
OneToOne | |
Zebrafish (Danio rerio) |
Actinopterygii | LOC569963 30 |
|
||
snpha 31 |
|
OneToMany | |||
snphb 31 |
|
OneToMany | |||
Rainbow Trout (Oncorhynchus mykiss) |
Actinopterygii | Omy.10436 30 |
|
Variant ID | Type | Subtype | PubMed ID |
---|---|---|---|
dgv2383e59 | CNV | duplication | 20981092 |
dgv2384e59 | CNV | duplication | 20981092 |
esv1588736 | CNV | deletion | 17803354 |
esv1774028 | CNV | deletion | 17803354 |
esv24525 | CNV | gain+loss | 19812545 |
esv2722063 | CNV | deletion | 23290073 |
esv2722064 | CNV | deletion | 23290073 |
esv2722065 | CNV | deletion | 23290073 |
esv2722066 | CNV | deletion | 23290073 |
esv2722067 | CNV | deletion | 23290073 |
esv2722068 | CNV | deletion | 23290073 |
esv2722069 | CNV | deletion | 23290073 |
esv3584406 | CNV | loss | 25503493 |
nsv1057097 | CNV | gain | 25217958 |
nsv1142983 | CNV | tandem duplication | 24896259 |
nsv1150964 | CNV | duplication | 26484159 |
nsv518957 | CNV | gain | 19592680 |
nsv821480 | CNV | deletion | 20802225 |
Disorder | Aliases | PubMed IDs |
---|---|---|
neuronopathy, distal hereditary motor, type viib |
|
|
distal hereditary motor neuronopathy type 7 |
|
|
charcot-marie-tooth disease |
|
|