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This gene encodes a member of the Ras superfamily of GTPases. Members of the gene family cycle between inactive GDP-bound and active GTP-bound forms. This small GTPase controls vesicle traffic from the endoplasmic reticulum to the Golgi apparatus. Multiple alternatively spliced transcript variants have been identified for this gene which encode different protein isoforms. [provided by RefSeq, Oct 2008]
RAB1A (RAB1A, Member RAS Oncogene Family) is a Protein Coding gene. Diseases associated with RAB1A include Choroideremia and Legionellosis. Among its related pathways are RAB GEFs exchange GTP for GDP on RABs and Mitotic Prophase. Gene Ontology (GO) annotations related to this gene include GTP binding and GTPase activity. An important paralog of this gene is RAB1B.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0000166 | nucleotide binding | IEA | -- |
GO:0003924 | GTPase activity | IEA,IDA | 17684057 |
GO:0005515 | protein binding | IPI | 15186776 |
GO:0005525 | GTP binding | IEA | -- |
GO:0045296 | cadherin binding | HDA | 25468996 |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0000139 | Golgi membrane | TAS | -- |
GO:0005623 | cell | IEA | -- |
GO:0005737 | cytoplasm | IEA | -- |
GO:0005768 | endosome | IEA | -- |
GO:0005769 | early endosome | IEA | -- |
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | Transport to the Golgi and subsequent modification | ||
2 | Cell Cycle, Mitotic |
.83
|
.60
|
3 | Golgi-to-ER retrograde transport | ||
4 | Autophagy Pathway | ||
5 | Mitotic Prophase |
.57
|
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0000045 | autophagosome assembly | IBA,IMP | 22939626 |
GO:0006886 | intracellular protein transport | IBA | 21873635 |
GO:0006888 | ER to Golgi vesicle-mediated transport | TAS | -- |
GO:0006890 | retrograde vesicle-mediated transport, Golgi to ER | TAS | -- |
GO:0006897 | endocytosis | IMP | 21303926 |
Name | Status | Disease Links | Group | Role | Mechanism of Action | Clinical Trials |
---|---|---|---|---|---|---|
Guanosine triphosphate | Experimental | Pharma | 0 |
ExUns: | 1a | · | 1b | · | 1c | · | 1d | · | 1e | · | 1f | · | 1g | ^ | 2 | ^ | 3 | ^ | 4 | ^ | 5a | · | 5b | ^ | 6a | · | 6b | · | 6c | ^ | 7a | · | 7b | ^ | 8a | · | 8b | · | 8c | · | 8d | · | 8e |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SP1: | - | - | - | - | - | ||||||||||||||||||||||||||||||||||||||
SP2: | - | - | - | ||||||||||||||||||||||||||||||||||||||||
SP3: | - | - | - | - | - | - | - | - | |||||||||||||||||||||||||||||||||||
SP4: | - | - | - | - | - | - | - | ||||||||||||||||||||||||||||||||||||
SP5: | - | - | - | - | |||||||||||||||||||||||||||||||||||||||
SP6: | - | - | - | - | - | - | |||||||||||||||||||||||||||||||||||||
SP7: | - | - | - | - | - | - | - | - | - | ||||||||||||||||||||||||||||||||||
SP8: | - | - | |||||||||||||||||||||||||||||||||||||||||
SP9: | - |
This gene was present in the common ancestor of eukaryotes.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | RAB1A 30 31 |
|
OneToOne | |
Platypus (Ornithorhynchus anatinus) |
Mammalia | RAB1A 31 |
|
OneToOne | |
Cow (Bos Taurus) |
Mammalia | RAB1A 31 |
|
OneToOne | |
Oppossum (Monodelphis domestica) |
Mammalia | RAB1A 31 |
|
OneToOne | |
Dog (Canis familiaris) |
Mammalia | RAB1A 30 31 |
|
OneToOne | |
Mouse (Mus musculus) |
Mammalia | Rab1 30 31 |
|
OneToOne | |
Rab1a 17 |
|
||||
Rat (Rattus norvegicus) |
Mammalia | Rab1a 30 |
|
||
Chicken (Gallus gallus) |
Aves | RAB1A 30 31 |
|
OneToOne | |
Lizard (Anolis carolinensis) |
Reptilia | -- 31 |
|
ManyToMany | |
Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | rab1a 30 |
|
||
Str.6985 30 |
|
||||
African clawed frog (Xenopus laevis) |
Amphibia | rab1-prov 30 |
|
||
Zebrafish (Danio rerio) |
Actinopterygii | rab1a 30 31 |
|
OneToOne | |
wufb53a02 30 |
|
||||
Fruit Fly (Drosophila melanogaster) |
Insecta | Rab1 30 31 32 |
|
OneToMany | |
CG2885 32 |
|
|
|||
Rab-RP3 32 |
|
|
|||
African malaria mosquito (Anopheles gambiae) |
Insecta | AgaP_AGAP004146 30 |
|
||
Worm (Caenorhabditis elegans) |
Secernentea | rab-1 30 31 32 |
|
OneToMany | |
K02E10.1 32 |
|
|
|||
4R79.2 32 |
|
|
|||
C33D12.6 32 |
|
|
|||
K. Lactis Yeast (Kluyveromyces lactis) |
Saccharomycetes | KLLA0D05313g 30 |
|
||
A. gosspyii yeast (Eremothecium gossypii) |
Saccharomycetes | AGOS_ABR220W 30 |
|
||
Baker's yeast (Saccharomyces cerevisiae) |
Saccharomycetes | YPT1 30 31 |
|
OneToMany | |
Thale Cress (Arabidopsis thaliana) |
eudicotyledons | RA-5 30 |
|
||
Alicante grape (Vitis vinifera) |
eudicotyledons | Vvi.13077 30 |
|
||
Rice (Oryza sativa) |
Liliopsida | Os01g0558600 30 |
|
||
Os.6802 30 |
|
||||
Sea Squirt (Ciona savignyi) |
Ascidiacea | CSA.10592 31 |
|
OneToMany | |
Fission Yeast (Schizosaccharomyces pombe) |
Schizosaccharomycetes | ypt1 30 |
|
||
Bread mold (Neurospora crassa) |
Ascomycetes | NCU08477 30 |
|
||
Sea Vase (Ciona intestinalis) |
Ascidiacea | Cin.6206 30 |
|
SNP ID | Clinical significance and condition | Chr 02 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
781602 | Benign: not provided | 65,088,545(-) | T/C | MISSENSE_VARIANT |
Variant ID | Type | Subtype | PubMed ID |
---|---|---|---|
esv1007213 | CNV | insertion | 20482838 |
esv1784939 | CNV | insertion | 17803354 |
nsv819395 | CNV | loss | 19587683 |
nsv834246 | CNV | loss | 17160897 |
Disorder | Aliases | PubMed IDs |
---|---|---|
choroideremia |
|
|
legionellosis |
|
|
rectum adenocarcinoma |
|
|
martsolf syndrome |
|
|