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RAB9A (RAB9A, Member RAS Oncogene Family) is a Protein Coding gene. Diseases associated with RAB9A include Simpson-Golabi-Behmel Syndrome, Type 2. Among its related pathways are wtCFTR and deltaF508 traffic / Late endosome and Lysosome (norm and CF) and Vesicle-mediated transport. Gene Ontology (GO) annotations related to this gene include GTP binding and GDP binding. An important paralog of this gene is RAB9B.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0000166 | nucleotide binding | IEA | -- |
GO:0003924 | GTPase activity | TAS,IDA | 15263003 |
GO:0005515 | protein binding | IPI | 15471887 |
GO:0005525 | GTP binding | IDA | 15263003 |
GO:0019003 | GDP binding | IDA | 15263003 |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0000139 | Golgi membrane | IEA | -- |
GO:0005764 | lysosome | IDA | 15078902 |
GO:0005768 | endosome | IEA | -- |
GO:0005770 | late endosome | IDA | 15078902 |
GO:0005783 | endoplasmic reticulum | IEA | -- |
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | Vesicle-mediated transport | ||
2 | Metabolism of proteins | ||
3 | wtCFTR and delta508-CFTR traffic / Generic schema (norm and CF) |
wtCFTR and delta508-CFTR traffic / Generic schema (norm and CF)
.33
|
Transport Clathrin-coated vesicle cycle
.32
|
4 | Cytoskeletal Signaling | ||
5 | Measles |
.35
|
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0015031 | protein transport | IEA | -- |
GO:0032482 | Rab protein signal transduction | IEA | -- |
GO:0032880 | regulation of protein localization | IMP | 18787122 |
GO:0042147 | retrograde transport, endosome to Golgi | IBA | 21873635 |
GO:0045921 | positive regulation of exocytosis | IMP | 19966785 |
Name | Status | Disease Links | Group | Role | Mechanism of Action | Clinical Trials |
---|---|---|---|---|---|---|
Guanosine diphosphate | Experimental | Pharma | Target | 0 |
Name | Synonyms | Role | CAS Number | PubChem IDs | PubMed IDs |
---|
This gene was present in the common ancestor of animals and fungi.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | RAB9A 30 31 |
|
OneToOne | |
Platypus (Ornithorhynchus anatinus) |
Mammalia | RAB9A 31 |
|
OneToOne | |
Oppossum (Monodelphis domestica) |
Mammalia | -- 31 |
|
OneToMany | |
-- 31 |
|
OneToMany | |||
Dog (Canis familiaris) |
Mammalia | RAB9A 30 31 |
|
OneToOne | |
Rat (Rattus norvegicus) |
Mammalia | Rab9a 30 |
|
||
Cow (Bos Taurus) |
Mammalia | RAB9A 30 31 |
|
OneToOne | |
Mouse (Mus musculus) |
Mammalia | Rab9 30 17 31 |
|
OneToOne | |
Chicken (Gallus gallus) |
Aves | RAB9A 30 31 |
|
OneToOne | |
Lizard (Anolis carolinensis) |
Reptilia | RAB9A 31 |
|
OneToOne | |
Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | rab9a 30 |
|
||
African clawed frog (Xenopus laevis) |
Amphibia | Xl.17219 30 |
|
||
Zebrafish (Danio rerio) |
Actinopterygii | rab9a 30 31 |
|
OneToOne | |
Fruit Fly (Drosophila melanogaster) |
Insecta | CG9994 32 |
|
|
|
Rab7 32 |
|
|
|||
Rab9 31 |
|
OneToMany | |||
Baker's yeast (Saccharomyces cerevisiae) |
Saccharomycetes | YPT7 31 |
|
OneToMany | |
Sea Squirt (Ciona savignyi) |
Ascidiacea | -- 31 |
|
OneToMany |
SNP ID | Clinical significance and condition | Chr 0X pos | Variation | AA Info | Type |
---|---|---|---|---|---|
rs143297516 | Benign: not provided | 13,709,340(+) |
A/T NM_004251.5(RAB9A):c.594A>T (p.Ser198=) |
SYNONYMOUS | |
rs201466174 | Likely Benign: not provided | 13,709,181(+) |
C/T NM_004251.5(RAB9A):c.435C>T (p.Asn145=) |
SYNONYMOUS |
Variant ID | Type | Subtype | PubMed ID |
---|---|---|---|
dgv2224e212 | CNV | loss | 25503493 |
dgv2225e212 | CNV | gain | 25503493 |
esv3576776 | CNV | gain | 25503493 |
nsv528634 | CNV | gain | 19592680 |
Disorder | Aliases | PubMed IDs |
---|---|---|
simpson-golabi-behmel syndrome, type 2 |
|
|