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The protein encoded by this gene is a transmembrane protein found in the cis-Golgi complex. The encoded protein is part of the multisubunit transport protein particle (TRAPP) complex and may be involved in vesicular transport from the endoplasmic reticulum to the Golgi. Mutations in this gene could be responsible for the Unverricht-Lundborg type of progressive myoclonus epilepsy, or for autoimmune polyglandular disease type 1. [provided by RefSeq, Jul 2008]
TRAPPC10 (Trafficking Protein Particle Complex 10) is a Protein Coding gene. Diseases associated with TRAPPC10 include Progressive Myoclonus Epilepsy and Myoclonus Epilepsy. Among its related pathways are RAB GEFs exchange GTP for GDP on RABs and Transport to the Golgi and subsequent modification. Gene Ontology (GO) annotations related to this gene include sodium ion transmembrane transporter activity. An important paralog of this gene is ENSG00000280433.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005515 | protein binding | IPI | 21273506 |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0000139 | Golgi membrane | IEA | -- |
GO:0005794 | Golgi apparatus | IEA | -- |
GO:0005829 | cytosol | TAS | -- |
GO:0030008 | TRAPP complex | IDA | 21525244 |
GO:1990071 | TRAPPII protein complex | IBA | 21873635 |
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | Transport to the Golgi and subsequent modification | ||
2 | Vesicle-mediated transport | ||
3 | Metabolism of proteins | ||
4 | RAB GEFs exchange GTP for GDP on RABs |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0006891 | intra-Golgi vesicle-mediated transport | IBA | 21873635 |
GO:0016192 | vesicle-mediated transport | IEA | -- |
GO:0034498 | early endosome to Golgi transport | IBA | 21873635 |
GO:0048208 | COPII vesicle coating | TAS | -- |
ExUns: | 1 | ^ | 2 | ^ | 3 | ^ | 4 | ^ | 5 | ^ | 6 | ^ | 7 | ^ | 8 | ^ | 9 | ^ | 10 | ^ | 11 | ^ | 12 | ^ | 13 | ^ | 14 | ^ | 15 | ^ | 16 | ^ | 17a | · | 17b | ^ | 18 | ^ | 19 | ^ | 20a | · | 20b | · | 20c | ^ | 21a | · | 21b | ^ | 22 | ^ |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SP1: | - | - | - | - | ||||||||||||||||||||||||||||||||||||||||||||||||
SP2: | - | |||||||||||||||||||||||||||||||||||||||||||||||||||
SP3: | - | |||||||||||||||||||||||||||||||||||||||||||||||||||
SP4: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
SP5: | - | |||||||||||||||||||||||||||||||||||||||||||||||||||
SP6: |
ExUns: | 23 | ^ | 24 | ^ | 25 |
---|---|---|---|---|---|
SP1: | |||||
SP2: | |||||
SP3: | |||||
SP4: | |||||
SP5: | |||||
SP6: |
This gene was present in the common ancestor of animals and fungi.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | TRAPPC10 30 31 |
|
OneToOne | |
Dog (Canis familiaris) |
Mammalia | TRAPPC10 30 31 |
|
OneToOne | |
Cow (Bos Taurus) |
Mammalia | TRAPPC10 30 31 |
|
OneToOne | |
Oppossum (Monodelphis domestica) |
Mammalia | TRAPPC10 31 |
|
OneToOne | |
Platypus (Ornithorhynchus anatinus) |
Mammalia | TRAPPC10 31 |
|
OneToOne | |
Mouse (Mus musculus) |
Mammalia | Trappc10 30 17 31 |
|
OneToOne | |
Rat (Rattus norvegicus) |
Mammalia | Trappc10 30 |
|
||
Chicken (Gallus gallus) |
Aves | TRAPPC10 30 31 |
|
OneToOne | |
Lizard (Anolis carolinensis) |
Reptilia | TRAPPC10 31 |
|
OneToOne | |
Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | trappc10 30 |
|
||
Zebrafish (Danio rerio) |
Actinopterygii | trappc10 30 |
|
||
TRAPPC10 31 |
|
OneToOne | |||
African malaria mosquito (Anopheles gambiae) |
Insecta | AgaP_AGAP002242 30 |
|
||
Fruit Fly (Drosophila melanogaster) |
Insecta | SIDL 30 31 |
|
OneToOne | |
Worm (Caenorhabditis elegans) |
Secernentea | trpp-10 31 |
|
OneToOne | |
Baker's yeast (Saccharomyces cerevisiae) |
Saccharomycetes | TRS130 33 |
|
|
|
Sea Squirt (Ciona savignyi) |
Ascidiacea | -- 31 |
|
OneToOne |
SNP ID | Clinical significance and condition | Chr 21 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
777625 | Benign: not provided | 44,079,633(+) | C/T | SYNONYMOUS_VARIANT | |
777640 | Benign: not provided | 44,087,937(+) | G/T | INTRON_VARIANT | |
rs386352376 | Uncertain Significance: not provided | 44,091,981(+) | A/G | MISSENSE_VARIANT | |
rs2071152 | - | p.Val726Met | |||
rs915877 | - | p.Ile633Met |
Variant ID | Type | Subtype | PubMed ID |
---|---|---|---|
esv25124 | CNV | gain | 19812545 |
esv2723627 | CNV | deletion | 23290073 |
esv33817 | CNV | loss | 17666407 |
esv3557795 | CNV | deletion | 23714750 |
esv3575397 | CNV | gain | 25503493 |
nsv1063752 | CNV | gain | 25217958 |
nsv1118936 | CNV | deletion | 24896259 |
nsv1139033 | CNV | deletion | 24896259 |
nsv1139034 | CNV | deletion | 24896259 |
nsv587721 | CNV | loss | 21841781 |
nsv587722 | CNV | loss | 21841781 |
Disorder | Aliases | PubMed IDs |
---|---|---|
progressive myoclonus epilepsy |
|
|
myoclonus epilepsy |
|
|
holoprosencephaly |
|
|
autoimmune polyendocrine syndrome, type i, with or without reversible metaphyseal dysplasia |
|
|
osteopetrosis, autosomal recessive 5 |
|
|