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The protein encoded by this gene is a subunit of the TRAPP (transport protein particle) tethering complex, which functions in intracellular vesicle trafficking. This subunit is involved in early stage endoplasmic reticulum-to-Golgi vesicle transport. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Jan 2013]
TRAPPC11 (Trafficking Protein Particle Complex 11) is a Protein Coding gene. Diseases associated with TRAPPC11 include Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 18 and Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 1. Among its related pathways are RAB GEFs exchange GTP for GDP on RABs and Vesicle-mediated transport.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005515 | protein binding | IPI | 21525244 |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005794 | Golgi apparatus | IEA,IDA | 27862579 |
GO:0005829 | cytosol | TAS | -- |
GO:0030008 | TRAPP complex | IMP | 21525244 |
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | Vesicle-mediated transport | ||
2 | RAB GEFs exchange GTP for GDP on RABs |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0006888 | ER to Golgi vesicle-mediated transport | IMP | 21525244 |
GO:0007030 | Golgi organization | IMP | 21525244 |
GO:0016192 | vesicle-mediated transport | IEA | -- |
GO:0045054 | constitutive secretory pathway | IMP | 19942856 |
GO:0061635 | regulation of protein complex stability | IMP | 21525244 |
ExUns: | 1a | · | 1b | ^ | 2 | ^ | 3a | · | 3b | · | 3c | ^ | 4a | · | 4b | ^ | 5 | ^ | 6 | ^ | 7 | ^ | 8 | ^ | 9 | ^ | 10 | ^ | 11 | ^ | 12a | · | 12b | ^ | 13 | ^ | 14 | ^ | 15 | ^ | 16 | ^ | 17 | ^ | 18 | ^ | 19 | ^ | 20 | ^ | 21 | ^ |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SP1: | - | - | - | |||||||||||||||||||||||||||||||||||||||||||||||||
SP2: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
SP3: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
SP4: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
SP5: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
SP6: |
ExUns: | 22 | ^ | 23 | ^ | 24 | ^ | 25 | ^ | 26a | · | 26b | ^ | 27 | ^ | 28 | ^ | 29 | ^ | 30 | ^ | 31 | ^ | 32a | · | 32b | · | 32c |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SP1: | - | - | - | ||||||||||||||||||||||||
SP2: | - | - | - | ||||||||||||||||||||||||
SP3: | - | - | |||||||||||||||||||||||||
SP4: | |||||||||||||||||||||||||||
SP5: | |||||||||||||||||||||||||||
SP6: |
This gene was present in the common ancestor of eukaryotes.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | TRAPPC11 30 31 |
|
OneToOne | |
Dog (Canis familiaris) |
Mammalia | TRAPPC11 30 31 |
|
OneToOne | |
Platypus (Ornithorhynchus anatinus) |
Mammalia | -- 31 |
|
OneToMany | |
-- 31 |
|
OneToMany | |||
-- 31 |
|
OneToMany | |||
Cow (Bos Taurus) |
Mammalia | TRAPPC11 30 31 |
|
OneToOne | |
Oppossum (Monodelphis domestica) |
Mammalia | TRAPPC11 31 |
|
OneToOne | |
Rat (Rattus norvegicus) |
Mammalia | Trappc11 30 |
|
||
Mouse (Mus musculus) |
Mammalia | Trappc11 30 17 31 |
|
OneToOne | |
Chicken (Gallus gallus) |
Aves | C4H4ORF41 30 31 |
|
OneToOne | |
Lizard (Anolis carolinensis) |
Reptilia | TRAPPC11 31 |
|
OneToOne | |
Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | trappc11 30 |
|
||
Str.7134 30 |
|
||||
African clawed frog (Xenopus laevis) |
Amphibia | Xl.16501 30 |
|
||
Zebrafish (Danio rerio) |
Actinopterygii | trappc11 30 31 |
|
OneToOne | |
wufb78g05 30 |
|
||||
Fruit Fly (Drosophila melanogaster) |
Insecta | gry 30 31 |
|
OneToOne | |
African malaria mosquito (Anopheles gambiae) |
Insecta | AgaP_AGAP006517 30 |
|
||
Worm (Caenorhabditis elegans) |
Secernentea | B0412.3 30 |
|
||
trpp-11 31 |
|
OneToOne | |||
Thale Cress (Arabidopsis thaliana) |
eudicotyledons | AT5G65950 30 |
|
||
Rice (Oryza sativa) |
Liliopsida | Os02g0714500 30 |
|
SNP ID | Clinical significance and condition | Chr 04 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
640745 | Uncertain Significance: Limb-girdle muscular dystrophy, type 2S | 183,694,626(+) | G/A | MISSENSE_VARIANT | |
641381 | Uncertain Significance: Limb-girdle muscular dystrophy, type 2S | 183,697,752(+) | G/C | MISSENSE_VARIANT | |
642886 | Uncertain Significance: Limb-girdle muscular dystrophy, type 2S | 183,685,344(+) | G/A | MISSENSE_VARIANT | |
644133 | Uncertain Significance: Limb-girdle muscular dystrophy, type 2S | 183,685,295(+) | G/A | MISSENSE_VARIANT | |
647690 | Uncertain Significance: Limb-girdle muscular dystrophy, type 2S | 183,694,635(+) | C/T | MISSENSE_VARIANT |
Variant ID | Type | Subtype | PubMed ID |
---|---|---|---|
dgv2964n106 | CNV | deletion | 24896259 |
esv1002560 | CNV | deletion | 20482838 |
esv1205233 | CNV | deletion | 17803354 |
esv2659078 | CNV | deletion | 23128226 |
esv2728876 | CNV | deletion | 23290073 |
esv3063065 | CNV | deletion | 24192839 |
esv3384 | CNV | loss | 18987735 |
esv3397171 | CNV | insertion | 20981092 |
esv3603444 | CNV | loss | 21293372 |
esv3603445 | CNV | gain | 21293372 |
esv3603446 | CNV | loss | 21293372 |
nsv1025333 | CNV | gain | 25217958 |
nsv1030766 | CNV | gain | 25217958 |
nsv292013 | CNV | deletion | 16902084 |
nsv508338 | CNV | deletion | 20534489 |