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The protein encoded by this gene is a component of the exocyst complex. The exocyst complex plays a critical role in vesicular trafficking and the secretory pathway by targeting post-Golgi vesicles to the plasma membrane. The encoded protein is required for assembly of the exocyst complex and docking of the complex to the plasma membrane. The encoded protein may also play a role in pre-mRNA splicing through interactions with pre-mRNA-processing factor 19. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene, and a pseudogene of this gene is located on the long arm of chromosome 4. [provided by RefSeq, Nov 2011]
EXOC7 (Exocyst Complex Component 7) is a Protein Coding gene. Diseases associated with EXOC7 include Neurodevelopmental Disorder With Seizures And Brain Atrophy and Myasthenic Syndrome, Congenital, 4C, Associated With Acetylcholine Receptor Deficiency. Among its related pathways are Peptide hormone metabolism and G-protein signaling RAC1 in cellular process.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005515 | protein binding | IPI | 16148947 |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0000145 | exocyst | IEA,IBA | 21873635 |
GO:0005737 | cytoplasm | IEA | -- |
GO:0005815 | microtubule organizing center | IDA | 18000879 |
GO:0005829 | cytosol | TAS | -- |
GO:0005886 | plasma membrane | TAS | -- |
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | Cargo trafficking to the periciliary membrane | ||
2 | Organelle biogenesis and maintenance |
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3 | Peptide hormone metabolism | ||
4 | Vesicle-mediated transport | ||
5 | Regulation of lipid metabolism Insulin signaling-generic cascades |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0006887 | exocytosis | IEA,IBA | 21873635 |
GO:0015031 | protein transport | IEA | -- |
GO:0016241 | regulation of macroautophagy | TAS | 21241894 |
GO:2000535 | regulation of entry of bacterium into host cell | IMP | 20579884 |
Name | Status | Disease Links | Group | Role | Mechanism of Action | Clinical Trials |
---|---|---|---|---|---|---|
Guanosine triphosphate | Experimental | Pharma | 0 |
ExUns: | 1a | · | 1b | ^ | 2 | ^ | 3a | · | 3b | ^ | 4a | · | 4b | ^ | 5 | ^ | 6a | · | 6b | ^ | 7 | ^ | 8 | ^ | 9 | ^ | 10a | · | 10b | ^ | 11a | · | 11b | ^ | 12 | ^ | 13a | · | 13b | · | 13c | · | 13d | ^ | 14 | ^ | 15a | · | 15b | ^ | 16 | ^ |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SP1: | - | - | - | - | - | |||||||||||||||||||||||||||||||||||||||||||||||
SP2: | - | - | - | |||||||||||||||||||||||||||||||||||||||||||||||||
SP3: | - | - | - | - | ||||||||||||||||||||||||||||||||||||||||||||||||
SP4: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
SP5: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
SP6: | - | - | - | |||||||||||||||||||||||||||||||||||||||||||||||||
SP7: | - | - | - | - | ||||||||||||||||||||||||||||||||||||||||||||||||
SP8: | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | |||||||||||||||||||||||||||||||
SP9: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
SP10: | - | - | - | - | - | |||||||||||||||||||||||||||||||||||||||||||||||
SP11: | - | - | - | - | ||||||||||||||||||||||||||||||||||||||||||||||||
SP12: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
SP13: | - | - | ||||||||||||||||||||||||||||||||||||||||||||||||||
SP14: | - | |||||||||||||||||||||||||||||||||||||||||||||||||||
SP15: | - | - | - | - |
ExUns: | 17a | · | 17b | · | 17c | · | 17d | ^ | 18 | ^ | 19a | · | 19b | ^ | 20a | · | 20b | ^ | 21a | · | 21b | · | 21c | ^ | 22 | ^ | 23 | ^ | 24a | · | 24b | ^ | 25a | · | 25b | ^ | 26 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SP1: | - | - | - | ||||||||||||||||||||||||||||||||||
SP2: | - | - | - | - | - | ||||||||||||||||||||||||||||||||
SP3: | - | - | |||||||||||||||||||||||||||||||||||
SP4: | - | ||||||||||||||||||||||||||||||||||||
SP5: | - | ||||||||||||||||||||||||||||||||||||
SP6: | |||||||||||||||||||||||||||||||||||||
SP7: | |||||||||||||||||||||||||||||||||||||
SP8: | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | |||||||||||||||||||||
SP9: | |||||||||||||||||||||||||||||||||||||
SP10: | |||||||||||||||||||||||||||||||||||||
SP11: | |||||||||||||||||||||||||||||||||||||
SP12: | - | ||||||||||||||||||||||||||||||||||||
SP13: | |||||||||||||||||||||||||||||||||||||
SP14: | |||||||||||||||||||||||||||||||||||||
SP15: |
This gene was present in the common ancestor of eukaryotes.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | EXOC7 31 |
|
OneToOne | |
Oppossum (Monodelphis domestica) |
Mammalia | EXOC7 31 |
|
OneToOne | |
Cow (Bos Taurus) |
Mammalia | EXOC7 30 31 |
|
OneToOne | |
Dog (Canis familiaris) |
Mammalia | EXOC7 30 31 |
|
OneToOne | |
Rat (Rattus norvegicus) |
Mammalia | LOC100911734 30 |
|
||
Mouse (Mus musculus) |
Mammalia | Exoc7 30 17 31 |
|
OneToOne | |
Platypus (Ornithorhynchus anatinus) |
Mammalia | EXOC7 31 |
|
OneToOne | |
Chicken (Gallus gallus) |
Aves | EXOC7 30 31 |
|
OneToOne | |
Lizard (Anolis carolinensis) |
Reptilia | EXOC7 31 |
|
OneToOne | |
Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | Str.4315 30 |
|
||
Zebrafish (Danio rerio) |
Actinopterygii | exoc7 30 31 |
|
OneToOne | |
wufj67f11 30 |
|
||||
Rainbow Trout (Oncorhynchus mykiss) |
Actinopterygii | Omy.9364 30 |
|
||
African malaria mosquito (Anopheles gambiae) |
Insecta | AgaP_AGAP006682 30 |
|
||
Fruit Fly (Drosophila melanogaster) |
Insecta | exo70 30 31 |
|
OneToOne | |
Worm (Caenorhabditis elegans) |
Secernentea | exoc-7 31 |
|
OneToOne | |
Thale Cress (Arabidopsis thaliana) |
eudicotyledons | EXO70A1 30 |
|
||
Rice (Oryza sativa) |
Liliopsida | Os12g0159700 30 |
|
||
Sea Squirt (Ciona savignyi) |
Ascidiacea | -- 31 |
|
OneToOne |
SNP ID | Clinical significance and condition | Chr 17 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
983545 | Pathogenic: Neurodevelopmental disorder with seizures and brain atrophy | 76,091,237(-) |
T/C NM_001013839.4(EXOC7):c.809-2A>G |
SPLICE_ACCEPTOR_VARIANT,INTRON | |
983546 | Pathogenic: Neurodevelopmental disorder with seizures and brain atrophy | 76,088,897(-) |
TTCAAGCATCAGCCCA
NM_001013839.4(EXOC7):c.1059_1073del (p.Asp353_Leu357del) |
INFRAME_DELETION | |
983547 | Pathogenic: Neurodevelopmental disorder with seizures and brain atrophy | 76,101,846(-) |
GGAT/G NM_001013839.4(EXOC7):c.138ATC[1] (p.Ser48del) |
INFRAME_DELETION | |
983548 | Pathogenic: Neurodevelopmental disorder with seizures and brain atrophy | 76,085,726(-) |
C/T NM_001013839.4(EXOC7):c.1567G>A (p.Ala523Thr) |
MISSENSE | |
rs34439220 | Benign: not provided | 76,086,093(-) |
T/C NM_001013839.4(EXOC7):c.1482A>G (p.Leu494=) |
SYNONYMOUS |
Disorder | Aliases | PubMed IDs |
---|---|---|
neurodevelopmental disorder with seizures and brain atrophy |
|
|
myasthenic syndrome, congenital, 4c, associated with acetylcholine receptor deficiency |
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|
bardet-biedl syndrome |
|
|