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This gene encodes a member of the NipSnap family of proteins that may be involved in vesicular transport. A similar protein in mice inhibits the calcium channel TRPV6, and is also localized to the inner mitochondrial membrane where it may play a role in mitochondrial DNA maintenance. A pseudogene of this gene is located on the short arm of chromosome 17. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Feb 2011]
NIPSNAP1 (Nipsnap Homolog 1) is a Protein Coding gene. Diseases associated with NIPSNAP1 include Phenylketonuria and Fibrous Meningioma. Among its related pathways are Neuroscience and Ca, cAMP and Lipid Signaling. Gene Ontology (GO) annotations related to this gene include neurotransmitter binding. An important paralog of this gene is NIPSNAP2.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005515 | protein binding | IPI | 25126726 |
GO:0042165 | neurotransmitter binding | IEA | -- |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005739 | mitochondrion | IEA,ISS | -- |
GO:0016020 | membrane | IEA | -- |
GO:0097060 | synaptic membrane | IEA | -- |
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | Ca, cAMP and Lipid Signaling | ||
2 | Neuroscience |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0019233 | sensory perception of pain | IEA,IBA | 21873635 |
This gene was present in the common ancestor of animals and fungi.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | NIPSNAP1 30 31 |
|
OneToOne | |
Dog (Canis familiaris) |
Mammalia | NIPSNAP1 30 31 |
|
OneToOne | |
Cow (Bos Taurus) |
Mammalia | NIPSNAP1 30 31 |
|
OneToOne | |
Rat (Rattus norvegicus) |
Mammalia | Nipsnap1 30 |
|
||
Mouse (Mus musculus) |
Mammalia | Nipsnap1 30 17 31 |
|
OneToOne | |
Platypus (Ornithorhynchus anatinus) |
Mammalia | NIPSNAP1 31 |
|
OneToOne | |
Oppossum (Monodelphis domestica) |
Mammalia | mdo-mir-1546 31 |
|
OneToOne | |
Chicken (Gallus gallus) |
Aves | NIPSNAP1 30 |
|
||
Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | nipsnap1 30 |
|
||
Str.15493 30 |
|
||||
Zebrafish (Danio rerio) |
Actinopterygii | nipsnap1 30 31 |
|
OneToOne | |
nipsnap2 30 |
|
||||
Rainbow Trout (Oncorhynchus mykiss) |
Actinopterygii | Omy.9741 30 |
|
||
Fruit Fly (Drosophila melanogaster) |
Insecta | Nipsnap 31 32 |
|
OneToMany | |
Worm (Caenorhabditis elegans) |
Secernentea | K02D10.1a 32 |
|
|
|
K02D10.1b 32 |
|
|
|||
Sea Squirt (Ciona savignyi) |
Ascidiacea | CSA.6771 31 |
|
OneToMany | |
Bread mold (Neurospora crassa) |
Ascomycetes | NCU08092 30 |
|
SNP ID | Clinical significance and condition | Chr 22 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
rs1058646 | - | p.Glu245Lys |
Variant ID | Type | Subtype | PubMed ID |
---|---|---|---|
esv2665021 | CNV | deletion | 23128226 |
esv3647539 | CNV | gain | 21293372 |
esv3647540 | CNV | loss | 21293372 |
esv3647541 | CNV | loss | 21293372 |
nsv1110864 | OTHER | inversion | 24896259 |
nsv521852 | CNV | loss | 19592680 |
nsv834172 | CNV | loss | 17160897 |
Disorder | Aliases | PubMed IDs |
---|---|---|
phenylketonuria |
|
|
fibrous meningioma |
|
|