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This gene encodes a member of the Ras family of small GTPases. The encoded protein undergoes a change in conformational state and activity, depending on whether it is bound to GTP or GDP. This protein is activated by several types of guanine nucleotide exchange factors (GEFs), and inactivated by two groups of GTPase-activating proteins (GAPs). The activation status of the encoded protein is therefore affected by the balance of intracellular levels of GEFs and GAPs. The encoded protein regulates signaling pathways that affect cell proliferation and adhesion, and may play a role in tumor malignancy. Pseudogenes of this gene have been defined on chromosomes 14 and 17. Alternative splicing results in multiple transcript variants. [provided by RefSeq, May 2014]
RAP1A (RAP1A, Member Of RAS Oncogene Family) is a Protein Coding gene. Diseases associated with RAP1A include Kabuki Syndrome 1 and Leukocyte Adhesion Deficiency, Type Iii. Among its related pathways are NGF Pathway and RET signaling. Gene Ontology (GO) annotations related to this gene include GTP binding. An important paralog of this gene is RAP1B.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0000166 | nucleotide binding | IEA | -- |
GO:0003924 | GTPase activity | TAS,IBA | 21873635 |
GO:0005515 | protein binding | IPI | 7791872 |
GO:0005525 | GTP binding | IBA | 21873635 |
GO:0017016 | Ras GTPase binding | IEA | -- |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005737 | cytoplasm | IEA,IDA | 11359771 |
GO:0005768 | endosome | IEA | -- |
GO:0005769 | early endosome | ISS | -- |
GO:0005770 | late endosome | IEA,ISS | -- |
GO:0005829 | cytosol | TAS | -- |
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | RET signaling |
.92
|
.92
|
2 | Paradoxical activation of RAF signaling by kinase inactive BRAF | ||
3 | Focal Adhesion |
.61
.61
|
HGF Pathway
.33
|
4 | Development HGF signaling pathway |
Development HGF signaling pathway
.44
Development Neurotrophin family signaling
.44
|
|
5 | Activation of cAMP-Dependent PKA |
Activation of cAMP-Dependent PKA
.77
cAMP Pathway
.77
|
Activation of PKA through GPCR
.71
PKA Signaling
.56
|
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0007165 | signal transduction | IEA | -- |
GO:0007264 | small GTPase mediated signal transduction | IEA | -- |
GO:0007399 | nervous system development | IEA | -- |
GO:0009743 | response to carbohydrate | IEA | -- |
GO:0010976 | positive regulation of neuron projection development | ISS | -- |
Name | Status | Disease Links | Group | Role | Mechanism of Action | Clinical Trials |
---|---|---|---|---|---|---|
cyclic amp | Experimental | Pharma | 0 | |||
Guanosine triphosphate | Experimental | Pharma | 0 | |||
Salirasib | Investigational | Pharma | Inhibitor of active Ras protein, Ras inhibitor; also induces autophagy | 0 | ||
Kobe0065 | Pharma | Ras inhibitor, H-Ras-cRaf1 interaction inhibitor; inhibits Raf signaling | 0 | |||
kobe2602 | Pharma | Ras inhibitor | 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 | RAP1A 30 31 |
|
OneToOne | |
Oppossum (Monodelphis domestica) |
Mammalia | -- 31 |
|
OneToMany | |
-- 31 |
|
OneToMany | |||
Dog (Canis familiaris) |
Mammalia | RAP1A 30 31 |
|
OneToOne | |
Cow (Bos Taurus) |
Mammalia | RAP1A 30 31 |
|
OneToOne | |
Rat (Rattus norvegicus) |
Mammalia | Rap1a 30 |
|
||
Mouse (Mus musculus) |
Mammalia | Rap1a 30 17 31 |
|
OneToOne | |
Platypus (Ornithorhynchus anatinus) |
Mammalia | RAP1A 31 |
|
OneToOne | |
Chicken (Gallus gallus) |
Aves | RAP1A 30 31 |
|
OneToOne | |
Lizard (Anolis carolinensis) |
Reptilia | RAP1A 31 |
|
OneToOne | |
Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | rap1a 30 |
|
||
Str.17139 30 |
|
||||
African clawed frog (Xenopus laevis) |
Amphibia | Xl.23802 30 |
|
||
Zebrafish (Danio rerio) |
Actinopterygii | rap1ab 31 |
|
ManyToMany | |
rap1aa 30 31 |
|
ManyToMany | |||
wufc66g06 30 |
|
||||
Rainbow Trout (Oncorhynchus mykiss) |
Actinopterygii | Omy.9072 30 |
|
||
Fruit Fly (Drosophila melanogaster) |
Insecta | R 30 31 32 |
|
OneToMany | |
Rap2l 32 |
|
|
|||
African malaria mosquito (Anopheles gambiae) |
Insecta | AgaP_AGAP001874 30 |
|
||
Worm (Caenorhabditis elegans) |
Secernentea | rrp-1 32 |
|
|
|
rap-1 31 |
|
OneToMany | |||
C25D7.7 32 |
|
|
|||
C08F8.7 32 |
|
|
|||
A. gosspyii yeast (Eremothecium gossypii) |
Saccharomycetes | AGOS_AFR464W 30 |
|
||
Baker's yeast (Saccharomyces cerevisiae) |
Saccharomycetes | RSR1 33 33 |
|
|
|
Sea Squirt (Ciona savignyi) |
Ascidiacea | CSA.8837 31 |
|
OneToMany | |
Bread mold (Neurospora crassa) |
Ascomycetes | NCU02167 30 |
|
SNP ID | Clinical significance and condition | Chr 01 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
715994 | Likely Benign: not provided | 111,695,332(+) | T/C | INTRON_VARIANT | |
718795 | Benign: not provided | 111,697,503(+) | G/A | INTRON_VARIANT | |
723561 | Likely Benign: not provided | 111,697,430(+) | TG/T | INTRON_VARIANT | |
735795 | Likely Benign: not provided | 111,709,232(+) | C/T | SYNONYMOUS_VARIANT | |
748010 | Likely Benign: not provided | 111,704,444(+) | C/A | SYNONYMOUS_VARIANT |
Variant ID | Type | Subtype | PubMed ID |
---|---|---|---|
esv2677467 | CNV | deletion | 23128226 |
esv3305407 | CNV | mobile element insertion | 20981092 |
esv3394544 | CNV | insertion | 20981092 |
esv3421509 | CNV | insertion | 20981092 |
esv3578108 | CNV | loss | 25503493 |
esv3587194 | CNV | gain | 21293372 |
esv3587195 | CNV | loss | 21293372 |
nsv946141 | CNV | duplication | 23825009 |
nsv947444 | CNV | duplication | 23825009 |
Disorder | Aliases | PubMed IDs |
---|---|---|
kabuki syndrome 1 |
|
|
leukocyte adhesion deficiency, type iii |
|
|
tuberous sclerosis |
|
|
cerebral cavernous malformations |
|
|
babesiosis |
|
|