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TSPOAP1 (TSPO Associated Protein 1) is a Protein Coding gene. Diseases associated with TSPOAP1 include Potocki-Lupski Syndrome. Among its related pathways are Neurotransmitter Release Cycle and Transmission across Chemical Synapses. An important paralog of this gene is RIMBP3.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005515 | protein binding | IEA,IPI | 21078624 |
GO:0030156 | benzodiazepine receptor binding | IPI | 9915832 |
GO:0099626 | voltage-gated calcium channel activity involved in regulation of presynaptic cytosolic calcium levels | IEA | -- |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005737 | cytoplasm | IBA,IDA | 9915832 |
GO:0005739 | mitochondrion | IBA,IDA | 9915832 |
GO:0005829 | cytosol | TAS | -- |
GO:0044305 | calyx of Held | IEA | -- |
GO:0098978 | glutamatergic synapse | IEA | -- |
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | Neurotransmitter Release Cycle | ||
2 | Transmission across Chemical Synapses |
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3 | Benzodiazepine Pathway, Pharmacodynamics |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0006700 | C21-steroid hormone biosynthetic process | TAS | -- |
GO:0007269 | neurotransmitter secretion | TAS | -- |
GO:0007274 | NOT neuromuscular synaptic transmission | IBA | 21873635 |
GO:0008150 | biological_process | ND | -- |
GO:0014047 | glutamate secretion | TAS | -- |
This gene was present in the common ancestor of animals.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | BZRAP1 30 31 |
|
OneToOne | |
Dog (Canis familiaris) |
Mammalia | BZRAP1 30 31 |
|
OneToOne | |
Cow (Bos Taurus) |
Mammalia | BZRAP1 30 31 |
|
OneToOne | |
Rat (Rattus norvegicus) |
Mammalia | Bzrap1 30 |
|
||
Mouse (Mus musculus) |
Mammalia | Bzrap1 30 31 |
|
OneToOne | |
Tspoap1 17 |
|
||||
Oppossum (Monodelphis domestica) |
Mammalia | BZRAP1 31 |
|
OneToOne | |
Platypus (Ornithorhynchus anatinus) |
Mammalia | BZRAP1 31 |
|
OneToOne | |
Chicken (Gallus gallus) |
Aves | BZRAP1 30 |
|
||
Lizard (Anolis carolinensis) |
Reptilia | -- 31 |
|
ManyToMany | |
Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | bzrap1 30 |
|
||
Zebrafish (Danio rerio) |
Actinopterygii | rimbp2 31 |
|
ManyToMany | |
Fruit Fly (Drosophila melanogaster) |
Insecta | Rbp 31 |
|
OneToMany | |
Worm (Caenorhabditis elegans) |
Secernentea | tag-168 31 |
|
OneToMany |
SNP ID | Clinical significance and condition | Chr 17 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
713165 | Benign: not provided | 58,310,100(-) | C/T | MISSENSE_VARIANT | |
714860 | Benign: not provided | 58,325,640(-) | C/A | MISSENSE_VARIANT,NON_CODING_TRANSCRIPT_VARIANT,INTRON_VARIANT | |
718105 | Likely Benign: not provided | 58,310,934(-) | G/A | MISSENSE_VARIANT | |
725303 | Benign: not provided | 58,319,302(-) | A/G | INTRON_VARIANT | |
731892 | Benign: not provided | 58,322,759(-) | C/T | SYNONYMOUS_VARIANT |
Variant ID | Type | Subtype | PubMed ID |
---|---|---|---|
nsv2109 | CNV | deletion | 18451855 |
nsv457859 | CNV | loss | 19166990 |
nsv457860 | CNV | loss | 19166990 |
nsv470593 | CNV | loss | 18288195 |
nsv509663 | CNV | insertion | 20534489 |
nsv517229 | CNV | gain+loss | 19592680 |
nsv575798 | CNV | loss | 21841781 |
nsv575799 | CNV | loss | 21841781 |
nsv952349 | CNV | deletion | 24416366 |
Disorder | Aliases | PubMed IDs |
---|---|---|
potocki-lupski syndrome |
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