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This gene encodes a member of the IQGAP family. The protein contains four IQ domains, one calponin homology domain, one Ras-GAP domain and one WW domain. It interacts with components of the cytoskeleton, with cell adhesion molecules, and with several signaling molecules to regulate cell morphology and motility. Expression of the protein is upregulated by gene amplification in two gastric cancer cell lines. [provided by RefSeq, Jul 2008]
IQGAP1 (IQ Motif Containing GTPase Activating Protein 1) is a Protein Coding gene. Diseases associated with IQGAP1 include Wolf-Hirschhorn Syndrome and Gastric Cancer. Among its related pathways are RET signaling and Paradoxical activation of RAF signaling by kinase inactive BRAF. Gene Ontology (GO) annotations related to this gene include calcium ion binding and GTPase activator activity. An important paralog of this gene is IQGAP2.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005078 | MAP-kinase scaffold activity | IPI | 18567582 |
GO:0005095 | GTPase inhibitor activity | TAS | 8670801 |
GO:0005096 | GTPase activator activity | TAS | 8051149 |
GO:0005509 | calcium ion binding | IDA | 18567582 |
GO:0005515 | protein binding | IEA,IPI | 10793131 |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0001726 | ruffle | IDA | 25554515 |
GO:0005634 | nucleus | IEA,IDA | 20883816 |
GO:0005737 | cytoplasm | IEA,IDA | 25554515 |
GO:0005829 | cytosol | TAS | -- |
GO:0005874 | microtubule | IDA | 21525035 |
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | RET signaling |
.92
|
.92
|
2 | Paradoxical activation of RAF signaling by kinase inactive BRAF | ||
3 | Innate Immune System |
.61
|
|
4 | Regulation of actin cytoskeleton | ||
5 | Developmental Biology |
.51
|
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0001817 | regulation of cytokine production | IEA | -- |
GO:0007165 | signal transduction | IEA,TAS | 8051149 |
GO:0007173 | epidermal growth factor receptor signaling pathway | IMP | 17563371 |
GO:0007346 | regulation of mitotic cell cycle | IMP | 20883816 |
GO:0008543 | fibroblast growth factor receptor signaling pathway | IEA | -- |
This gene was present in the common ancestor of animals and fungi.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | IQGAP1 30 31 |
|
OneToOne | |
Cow (Bos Taurus) |
Mammalia | IQGAP1 31 |
|
OneToOne | |
Dog (Canis familiaris) |
Mammalia | IQGAP1 30 31 |
|
OneToOne | |
Oppossum (Monodelphis domestica) |
Mammalia | IQGAP1 31 |
|
OneToOne | |
Platypus (Ornithorhynchus anatinus) |
Mammalia | -- 31 |
|
OneToMany | |
-- 31 |
|
OneToMany | |||
-- 31 |
|
OneToMany | |||
-- 31 |
|
OneToMany | |||
Mouse (Mus musculus) |
Mammalia | Iqgap1 30 17 31 |
|
OneToOne | |
Rat (Rattus norvegicus) |
Mammalia | Iqgap1 30 |
|
||
Chicken (Gallus gallus) |
Aves | IQGAP1 30 31 |
|
OneToOne | |
Lizard (Anolis carolinensis) |
Reptilia | IQGAP1 31 |
|
OneToOne | |
Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | iqgap1 30 |
|
||
African clawed frog (Xenopus laevis) |
Amphibia | XIQGAP1 30 |
|
||
Zebrafish (Danio rerio) |
Actinopterygii | iqgap1 30 31 |
|
OneToOne | |
Dr.17687 30 |
|
||||
Rainbow Trout (Oncorhynchus mykiss) |
Actinopterygii | Omy.515 30 |
|
||
Worm (Caenorhabditis elegans) |
Secernentea | pes-7 31 |
|
OneToMany | |
Baker's yeast (Saccharomyces cerevisiae) |
Saccharomycetes | IQG1 31 |
|
OneToMany | |
Sea Squirt (Ciona savignyi) |
Ascidiacea | -- 31 |
|
OneToMany |
SNP ID | Clinical significance and condition | Chr 15 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
710078 | Benign: not provided | 90,429,671(+) | C/T | INTRON_VARIANT | |
710079 | Benign: not provided | 90,484,311(+) | G/A | MISSENSE_VARIANT | |
712395 | Benign: not provided | 90,441,637(+) | A/G | MISSENSE_VARIANT | |
714664 | Benign: not provided | 90,441,630(+) | C/T | SYNONYMOUS_VARIANT | |
776944 | Benign: not provided | 90,486,086(+) | A/G | SYNONYMOUS_VARIANT |
Variant ID | Type | Subtype | PubMed ID |
---|---|---|---|
dgv2658n100 | CNV | gain | 25217958 |
dgv2659n100 | CNV | gain | 25217958 |
dgv4705n54 | CNV | gain | 21841781 |
esv2658494 | CNV | deletion | 23128226 |
esv2751541 | CNV | gain | 17911159 |
esv2761843 | CNV | gain | 21179565 |
esv3637227 | CNV | loss | 21293372 |
esv3637228 | CNV | loss | 21293372 |
nsv1045042 | CNV | gain | 25217958 |
nsv457246 | CNV | gain | 19166990 |
nsv472186 | CNV | novel sequence insertion | 20440878 |
nsv474348 | CNV | novel sequence insertion | 20440878 |
nsv570394 | CNV | gain | 21841781 |
nsv570396 | CNV | gain | 21841781 |
nsv833087 | CNV | loss | 17160897 |
nsv833088 | CNV | loss | 17160897 |
nsv952027 | CNV | duplication | 24416366 |
Disorder | Aliases | PubMed IDs |
---|---|---|
wolf-hirschhorn syndrome |
|
|
gastric cancer |
|
|
lissencephaly |
|
|
nephrotic syndrome, type 3 |
|
|
skin disease |
|
|