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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 t... See more...
Aliases for IQGAP1 Gene
Aliases for IQGAP1 Gene
External Ids for IQGAP1 Gene
- HGNC: 6110
- NCBI Entrez Gene: 8826
- Ensembl: ENSG00000140575
- OMIM®: 603379
- UniProtKB/Swiss-Prot: P46940
Previous GeneCards Identifiers for IQGAP1 Gene
- GC15M087129
- GC15P084438
- GC15P088518
- GC15P088661
- GC15P088732
- GC15P090931
- GC15P067043
Summaries for IQGAP1 Gene
-
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]
GeneCards Summary for IQGAP1 Gene
IQGAP1 (IQ Motif Containing GTPase Activating Protein 1) is a Protein Coding gene. Diseases associated with IQGAP1 include Gastric Cancer and Nephrotic Syndrome, Type 3. Among its related pathways are RET signaling and Adherens junction. Gene Ontology (GO) annotations related to this gene include calcium ion binding and GTPase activator activity. An important paralog of this gene is IQGAP3.
UniProtKB/Swiss-Prot Summary for IQGAP1 Gene
-
Plays a crucial role in regulating the dynamics and assembly of the actin cytoskeleton. Binds to activated CDC42 but does not stimulate its GTPase activity. It associates with calmodulin. Could serve as an assembly scaffold for the organization of a multimolecular complex that would interface incoming signals to the reorganization of the actin cytoskeleton at the plasma membrane. May promote neurite outgrowth (PubMed:15695813). May play a possible role in cell cycle regulation by contributing to cell cycle progression after DNA replication arrest (PubMed:20883816).
Additional gene information for IQGAP1 Gene
- HGNC (6110)
- NCBI Entrez Gene (8826)
- Ensembl (ENSG00000140575)
- OMIM® (603379)
- UniProtKB/Swiss-Prot (P46940)
- Open Targets Platform(ENSG00000140575)
- Monarch Initiative
- Alliance of Genome Resources
- Search for IQGAP1 at DataMed
- Search for IQGAP1 at HumanCyc
No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for IQGAP1 Gene
Genomics for IQGAP1 Gene
GeneHancer (GH) Regulatory Elements Pubs
Promoters and enhancers for IQGAP1 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association
Download GeneHancer data from 2017 publication |
Request up-to-date GeneHancer data (full dataset)
GeneHancers around IQGAP1 on the GeneHancer Hub at the UCSC Golden Path
Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for IQGAP1
- Top Transcription factor binding sites by QIAGEN in the IQGAP1 gene promoter:
-
- ATF6
- CUTL1
- E47
- FOXI1
- HFH-3
- IRF-7A
- NRSF form 1
- NRSF form 2
- Pax-5
- Sp1
Genomic Locations for IQGAP1 Gene
Latest Assembly
- chr15:90,388,242-90,502,239
- (GRCh38/hg38)
- Size:
- 113,998 bases
- Orientation:
- Plus strand
Previous Assembly
- chr15:90,931,474-91,045,471
- (GRCh37/hg19 by Entrez Gene)
- Size:
- 113,998 bases
- Orientation:
- Plus strand
Genomic View for IQGAP1 Gene
Genes around IQGAP1 on UCSC Golden Path with GeneCards custom track
- Cytogenetic band:
-
- 15q26.1 by HGNC
- 15q26.1 by Entrez Gene
- 15q26.1 by Ensembl
IQGAP1 Gene in genomic location: bands according to
Ensembl, locations according to GeneLoc
(and/or Entrez Gene and/or Ensembl if different)
Genomic Neighborhood
• Exon Structure
• Gene Density
RefSeq DNA sequence for IQGAP1 Gene
Proteins for IQGAP1 Gene
-
Protein details for IQGAP1 Gene (UniProtKB/Swiss-Prot)
- Protein Symbol:
- P46940-IQGA1_HUMAN
- Recommended name:
- Ras GTPase-activating-like protein IQGAP1
- Protein Accession:
- P46940
- A7MBM3
Protein attributes for IQGAP1 Gene
- Size:
- 1657 amino acids
- Molecular mass:
- 189252 Da
- Quaternary structure:
-
- Interacts with CDC42; the interaction is demonstrated with IQGAP1 in GTP-bound and in nucleotide-free state (PubMed:15355962). Interacts with RAC1 (PubMed:15355962). Does not interact with RHOA. Interacts with TSG101 (PubMed:17853893). Interacts with PAK6 (PubMed:18642328). Interacts with TMEM14B; this interaction increases IQGAP1 phosphorylation and induces its nuclear translocation (PubMed:29033352). Interacts with SASH1 (PubMed:23333244). Interacts with PJVK (By similarity).
- (Microbial infection) Interacts with ebolavirus vp40.
- SequenceCaution:
-
- Sequence=BAA06123.2; Type=Erroneous initiation; Evidence={ECO:0000305};
Protein Expression for IQGAP1 Gene
Post-translational modifications for IQGAP1 Gene
- Phosphorylation of Ser-1443 by PKC/PRKCE prevents interaction between C1 and C2, allowing binding of nucleotide-free CDC42. Ser-1443 phosphorylation enhances the ability to promote neurite outgrowth.
-
Ubiquitination at Lys88, Lys348, Lys811, Lys1088, Lys1144, Lys1155, Lys1165, Lys1230, Lys1477, and Lys1528
- NX_P46940 (NX_P46940-1)
- Modification sites at PhosphoSitePlus
Other Protein References for IQGAP1 Gene
- ENSEMBL proteins:
- REFSEQ proteins:
Antibodies for research
- G Biosciences Immunotag™ IQGAP1 Antibody
- GeneTex Anti-IQGAP1 antibody and Anti-IQGAP1 antibody [JG38-74]
- NSJ Bioreagents IQGAP1 Antibody
- Novus Biologicals Antibodies for IQGAP1
-
Abcam antibodies for IQGAP1
- Invitrogen Antibodies for IQGAP1 (AFLGC-IQGAP1)
-
Santa Cruz Biotechnology (SCBT) Antibodies for IQGAP1
Protein products for research
-
OriGene Purified Proteins for IQGAP1
- Search Origene for MassSpec and Protein Over-expression Lysates for IQGAP1
- Origene Custom Protein Services for IQGAP1
-
Abcam proteins for IQGAP1
Assay products for research
No data available for DME Specific Peptides for IQGAP1 Gene
Domains & Families for IQGAP1 Gene
Gene Families for IQGAP1 Gene
- HGNC:
- Human Protein Atlas (HPA):
-
- Plasma proteins
- Predicted intracellular proteins
Protein Domains for IQGAP1 Gene
- InterPro:
- Blocks:
-
- IQ calmodulin-binding region
- Calponin-like actin-binding
- Ras GTPase-activating protein
- RasGAP protein, C-terminal
- RasGAP
Suggested Antigen Peptide Sequences for IQGAP1 Gene
- GenScript: Design optimal peptide antigens:
-
- IQ motif containing GTPase activating protein 1 (A4QPB0_HUMAN)
- p195 (IQGA1_HUMAN)
- IQGAP1 protein (Q05DN7_HUMAN)
- IQGAP1 protein (Q5FWG8_HUMAN)
- IQGAP1 protein (Q6P1N4_HUMAN)
Graphical View of Domain Structure for InterPro Entry
P46940UniProtKB/Swiss-Prot:
IQGA1_HUMAN :- Regions C1 and C2 can either interact with nucleotide-free CDC42, or interact together, depending on the phosphorylation state of Ser-1443. When Ser-1443 is not phosphorylated, C1 and C2 interact, which prevents binding of nucleotide-free CDC42 and promotes binding of GTP-bound CDC42. Phosphorylation of Ser-1443 prevents interaction between C1 and C2, which opens the structure of the C-terminus and allows binding and sequestration of nucleotide-free CDC42 on both C1 and C2.
- Domain:
-
- Regions C1 and C2 can either interact with nucleotide-free CDC42, or interact together, depending on the phosphorylation state of Ser-1443. When Ser-1443 is not phosphorylated, C1 and C2 interact, which prevents binding of nucleotide-free CDC42 and promotes binding of GTP-bound CDC42. Phosphorylation of Ser-1443 prevents interaction between C1 and C2, which opens the structure of the C-terminus and allows binding and sequestration of nucleotide-free CDC42 on both C1 and C2.
Function for IQGAP1 Gene
Molecular function for IQGAP1 Gene
- UniProtKB/Swiss-Prot Function:
- Plays a crucial role in regulating the dynamics and assembly of the actin cytoskeleton. Binds to activated CDC42 but does not stimulate its GTPase activity. It associates with calmodulin. Could serve as an assembly scaffold for the organization of a multimolecular complex that would interface incoming signals to the reorganization of the actin cytoskeleton at the plasma membrane. May promote neurite outgrowth (PubMed:15695813). May play a possible role in cell cycle regulation by contributing to cell cycle progression after DNA replication arrest (PubMed:20883816).
- GENATLAS Biochemistry:
- IQ motif containing GTPase activating protein 1,S pombe RasGAP-like protein SAR1 homolog,potential effector for CDC42,may be involved in cell morphology
Phenotypes From GWAS Catalog for IQGAP1 Gene
| 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,IBA | 21873635 |
| GO:0005509 | calcium ion binding | IDA | 18567582 |
| GO:0005515 | protein binding | IEA,IPI | 10793131 |
Phenotypes for IQGAP1 Gene
- MGI mutant phenotypes for IQGAP1:
- inferred from 2 alleles
- GenomeRNAi human phenotypes for IQGAP1:
-
- Increased vaccinia virus (VACV) infection
- Decreased NF-kappaB reporter expression
- Decreased viability
- no effect
- Decreased hepcidin::fluc mRNA expression
- Increased epidermal growth factor (EGF) endocytosis
- Increased shRNA abundance (Z-score > 2)
- Decreased shRNA abundance (Z-score < -2)
- Decreased viability in colon lineage
- Increased cell number in G1, small nuclei in G1
- Decreased Hepatitis C virus replication
- Decreased Salmonella enterica Typhimurium invasion
- Decreased Salmonella enterica Typhimurium binding
- Decreased viability with paclitaxel
- Altered focal adhesion (FA) or cell shape morphology
Animal Models for IQGAP1 Gene
Animal Models for research
- Taconic Biosciences: Generate A Custom CRISPR Mouse Model For Your Study
CRISPR products for research
- Applied Biological Materials (abm): CRISPR Clones for IQGAP1 - Starting at $85 >
- * IQGAP1 CRISPR as ready-to-use vector or virus: Non-viral | Lenti- | Adeno- | AAV- | siRNA - Browse All
- * Cas9 Nucleases, Nickases, Null Mutants, and GFP tag also available.
-
OriGene CRISPR knockouts for IQGAP1
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for IQGAP1
-
Santa Cruz Biotechnology (SCBT) CRISPR for IQGAP1
miRNA for IQGAP1 Gene
- miRTarBase miRNAs that target IQGAP1
-
- hsa-miR-124-3p (MIRT002697)
- mmu-miR-124-3p (MIRT015924)
- hsa-miR-215-5p (MIRT024313)
- hsa-miR-192-5p (MIRT026798)
- hsa-miR-324-3p (MIRT042850)
- hsa-miR-92a-3p (MIRT049578)
- hsa-miR-376a-3p (MIRT440432)
- hsa-miR-544a (MIRT440433)
- hsa-miR-136-3p (MIRT724396)
- hsa-miR-3074-3p (MIRT724397)
- hsa-miR-449b-3p (MIRT724398)
- hsa-miR-506-3p (MIRT733787)
- hsa-miR-506-5p (MIRT734339)
miRNA products for research
Inhibitory RNAs for research
- Origene shrna, sirna, and RNAi products in human, mouse, rat for IQGAP1
- Browse OriGene Inhibitory RNA Products For IQGAP1
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for IQGAP1
Clone products for research
- Applied Biological Materials (abm): Clones for IQGAP1 - Starting at $45 >
- * IQGAP1 as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Retro- | Protein Vector - Browse All
- * Viral Packaging Services and High Titer Production Services also available.
- Sino Biological Human cDNA Clone for IQGAP1
- Addgene plasmids for IQGAP1
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for IQGAP1
Cell Lines for research
-
Horizon Cell Lines for IQGAP1
No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for IQGAP1 Gene
Localization for IQGAP1 Gene
Subcellular locations from UniProtKB/Swiss-Prot for IQGAP1 Gene
- Cell membrane. Nucleus. Cytoplasm. Note=Subcellular distribution is regulated by the cell cycle, nuclear levels increase at G1/S phase (PubMed:20883816). {ECO:0000269 PubMed:20883816}.
| Compartment | Confidence |
|---|---|
| plasma membrane | 5 |
| cytoskeleton | 5 |
| nucleus | 5 |
| cytosol | 5 |
| extracellular | 4 |
| mitochondrion | 2 |
| endoplasmic reticulum | 2 |
| endosome | 2 |
| lysosome | 2 |
| peroxisome | 1 |
| golgi apparatus | 1 |
- Cell Junctions (3)
- Plasma membrane (3)
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0001726 | ruffle | IDA | 25554515 |
| GO:0005634 | nucleus | IBA,IDA | 20883816 |
| GO:0005737 | cytoplasm | IBA,IDA | 25554515 |
| GO:0005829 | cytosol | TAS | -- |
| GO:0005874 | microtubule | IDA | 21525035 |
Pathways & Interactions for IQGAP1 Gene
| 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
|
|
Pathways by source for IQGAP1 Gene
11 BioSystems pathways for IQGAP1 Gene
65 Reactome pathways for IQGAP1 Gene
3 KEGG pathways for IQGAP1 Gene
1 R&D Systems pathway for IQGAP1 Gene
6 Qiagen pathways for IQGAP1 Gene
- CDC42 Pathway
- Epithelial Adherens Junctions
- Germ Cell-Sertoli Cell Junction Dynamics
- Rac1 Pathway
- Remodeling of Adherens Junctions
1 Cell Signaling Technology pathway for IQGAP1 Gene
Interacting Proteins for IQGAP1 Gene
Selected Interacting proteins:
P46940-IQGA1_HUMAN
ENSP00000268182
for IQGAP1 Gene via
UniProtKB
MINT
STRING
IID
GPS-Prot Interaction Network for IQGAP1
SIGNOR curated interactions for IQGAP1 Gene
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| 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:0016032 | viral process | IEA | -- |
| GO:0016477 | cell migration | IMP | 26242911 |
Transcripts for IQGAP1 Gene
mRNA/cDNA for IQGAP1 Gene
- 1 REFSEQ mRNAs :
- 18 NCBI additional mRNA sequence :
- 18 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :
-
- ENST00000268182 7205 nts (view in UCSC)
- ENST00000558003 596 nts (view in UCSC)
- ENST00000558491 637 nts (view in UCSC)
- ENST00000558957 2313 nts (view in UCSC)
- ENST00000559031 583 nts (view in UCSC)
CRISPR products for research
- Applied Biological Materials (abm): CRISPR Clones for IQGAP1 - Starting at $85 >
- * IQGAP1 CRISPR as ready-to-use vector or virus: Non-viral | Lenti- | Adeno- | AAV- | siRNA - Browse All
- * Cas9 Nucleases, Nickases, Null Mutants, and GFP tag also available.
-
OriGene CRISPR knockouts for IQGAP1
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for IQGAP1
-
Santa Cruz Biotechnology (SCBT) CRISPR for IQGAP1
miRNA products for research
Inhibitory RNAs for research
- Origene shrna, sirna, and RNAi products in human, mouse, rat for IQGAP1
- Browse OriGene Inhibitory RNA Products For IQGAP1
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for IQGAP1
Clone products for research
- Applied Biological Materials (abm): Clones for IQGAP1 - Starting at $45 >
- * IQGAP1 as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Retro- | Protein Vector - Browse All
- * Viral Packaging Services and High Titer Production Services also available.
- Sino Biological Human cDNA Clone for IQGAP1
- Addgene plasmids for IQGAP1
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for IQGAP1
Relevant External Links for IQGAP1 Gene
- GeneLoc Exon Structure for
- IQGAP1
Expression for IQGAP1 Gene
mRNA differential expression in normal tissues according to GTEx for IQGAP1 Gene
This gene is overexpressed in Whole Blood (x5.7).
This gene is overexpressed in Tlymphocyte (7.4).
Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for IQGAP1 Gene
Transcriptomic regulation report from SPP (The Signaling Pathways Project) for IQGAP1
SOURCE GeneReport for Unigene cluster for IQGAP1 Gene:
Hs.430551mRNA Expression by UniProt/SwissProt for IQGAP1 Gene:
P46940-IQGA1_HUMAN
Tissue specificity:
Expressed in the placenta, lung, and kidney. A lower level expression is seen in the heart, liver, skeletal muscle and pancreas.
Evidence on tissue expression from TISSUES for IQGAP1 Gene
- Liver(4.7)
- Bone marrow(4.5)
- Nervous system(4.1)
- Intestine(3.5)
- Lung(3.4)
- Pancreas(3.4)
- Kidney(3.3)
- Blood(3.1)
- Heart(3)
- Spleen(3)
- Skin(2.9)
- Adrenal gland(2.8)
- Muscle(2.7)
- Lymph node(2.7)
- Stomach(2.5)
- Thyroid gland(2.4)
- Eye(2.1)
Primer products for research
-
OriGene qPCR primer pairs for IQGAP1
Gene Expression Assays for research
No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery and Phenotype-based relationships between genes and organs from Gene ORGANizer for IQGAP1 Gene
Orthologs for IQGAP1 Gene
This gene was present in the common ancestor of animals and fungi.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| Chimpanzee (Pan troglodytes) |
Mammalia | IQGAP1 29 30 |
|
OneToOne | |
| Cow (Bos Taurus) |
Mammalia | IQGAP1 30 |
|
OneToOne | |
| Dog (Canis familiaris) |
Mammalia | IQGAP1 29 30 |
|
OneToOne | |
| Oppossum (Monodelphis domestica) |
Mammalia | IQGAP1 30 |
|
OneToOne | |
| Platypus (Ornithorhynchus anatinus) |
Mammalia | -- 30 |
|
OneToMany | |
| -- 30 |
|
OneToMany | |||
| -- 30 |
|
OneToMany | |||
| -- 30 |
|
OneToMany | |||
| Mouse (Mus musculus) |
Mammalia | Iqgap1 29 16 30 |
|
OneToOne | |
| Rat (Rattus norvegicus) |
Mammalia | Iqgap1 29 |
|
||
| Chicken (Gallus gallus) |
Aves | IQGAP1 29 30 |
|
OneToOne | |
| Lizard (Anolis carolinensis) |
Reptilia | IQGAP1 30 |
|
OneToOne | |
| Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | iqgap1 29 |
|
||
| African clawed frog (Xenopus laevis) |
Amphibia | XIQGAP1 29 |
|
||
| Zebrafish (Danio rerio) |
Actinopterygii | iqgap1 29 30 |
|
OneToOne | |
| Dr.17687 29 |
|
||||
| Rainbow Trout (Oncorhynchus mykiss) |
Actinopterygii | Omy.515 29 |
|
||
| Worm (Caenorhabditis elegans) |
Secernentea | pes-7 30 |
|
OneToMany | |
| Baker's yeast (Saccharomyces cerevisiae) |
Saccharomycetes | IQG1 30 |
|
OneToMany | |
| Sea Squirt (Ciona savignyi) |
Ascidiacea | -- 30 |
|
OneToMany |
- Species where no ortholog for IQGAP1 was found in the sources mined by GeneCards:
-
- A. gosspyii yeast (Eremothecium gossypii)
- Actinobacteria (Mycobacterium tuberculosis)
- African malaria mosquito (Anopheles gambiae)
- Alicante grape (Vitis vinifera)
- Alpha proteobacteria (Wolbachia pipientis)
- Amoeba (Dictyostelium discoideum)
- Archea (Pyrococcus horikoshii)
- Barley (Hordeum vulgare)
- Beta proteobacteria (Neisseria meningitidis)
- Bread mold (Neurospora crassa)
- Chromalveolata (Phytophthora infestans)
- Common water flea (Daphnia pulex)
- Corn (Zea mays)
- E. coli (Escherichia coli)
- Filamentous fungi (Aspergillus nidulans)
- Firmicute Bacteria (Streptococcus pneumoniae)
- Fission Yeast (Schizosaccharomyces pombe)
- Fruit Fly (Drosophila melanogaster)
- Green Algae (Chlamydomonas reinhardtii)
- Honey Bee (Apis mellifera)
- K. Lactis Yeast (Kluyveromyces lactis)
- Loblloly Pine (Pinus taeda)
- Malaria Parasite (Plasmodium falciparum)
- Medicago Trunc (Medicago Truncatula)
- Moss (Physcomitrella patens)
- Orangutan (Pongo pygmaeus)
- Pig (Sus scrofa)
- Rice (Oryza sativa)
- Rice Blast Fungus (Magnaporthe grisea)
- Schistosome Parasite (Schistosoma mansoni)
- Sea Anemone (Nematostella vectensis)
- Sea Vase (Ciona intestinalis)
- Sea Urchin (Strongylocentrotus purpuratus)
- Sorghum (Sorghum bicolor)
- Soybean (Glycine max)
- Stem Rust Fungus (Puccinia graminis)
- Sugarcane (Saccharum officinarum)
- Thale Cress (Arabidopsis thaliana)
- Tomato (Lycopersicon esculentum)
- Toxoplasmosis (Toxoplasma gondii)
- Trichoplax (Trichoplax adhaerens)
- Wheat (Triticum aestivum)
Evolution for IQGAP1 Gene
- ENSEMBL:
- Gene Tree for IQGAP1 (if available)
- TreeFam:
- Gene Tree for IQGAP1 (if available)
- Aminode:
- Evolutionary constrained regions (ECRs) for IQGAP1: view image
- Alliance of Genome Resources:
- Additional Orthologs for IQGAP1
Paralogs for IQGAP1 Gene
Variants for IQGAP1 Gene
Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for IQGAP1 Gene
| SNP ID | Clinical significance and condition | Chr 15 pos | Variation | AA Info | Type |
|---|---|---|---|---|---|
| rs114361502 | Benign: not provided | 90,486,086(+) |
A/G NM_003870.4(IQGAP1):c.3978A>G (p.Glu1326=) |
SYNONYMOUS | |
| rs114889611 | Benign: not provided | 90,441,630(+) |
C/T NM_003870.4(IQGAP1):c.774C>T (p.Tyr258=) |
SYNONYMOUS | |
| rs138269416 | Benign: not provided | 90,484,311(+) |
G/A NM_003870.4(IQGAP1):c.3880G>A (p.Val1294Ile) |
MISSENSE | |
| rs138352975 | Benign: not provided | 90,441,637(+) |
A/G NM_003870.4(IQGAP1):c.781A>G (p.Ile261Val) |
MISSENSE | |
| rs147018296 | Benign: not provided | 90,429,671(+) |
C/T NM_003870.4(IQGAP1):c.390+5C>T |
INTRON |
All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).
| 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 |
Residual Variation Intolerance Score:
1.49% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score:
2.55;
44.42% of all genes are more intolerant (likely to be disease-causing)
Additional Variant Information for IQGAP1 Gene
SNP Genotyping and Copy Number Assays for research
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for IQGAP1 Gene
Disorders for IQGAP1 Gene
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| gastric cancer |
|
|
| nephrotic syndrome, type 3 |
|
|
| bullous skin disease |
|
|
| lissencephaly |
|
|
| wolf-hirschhorn syndrome |
|
|
Search IQGAP1 in MalaCards
View complete list of genes associated with diseases
Additional Disease Information for IQGAP1
- Human Genome Epidemiology Navigator
- (HuGE)
- Atlas
- ATLAS of Genetics and Cytogenetics in Oncology and Haematology
- Open Targets Platform
- Open Targets Platform
No data available for UniProtKB/Swiss-Prot and Genatlas for IQGAP1 Gene
Publications for IQGAP1 Gene
- Identification of a human rasGAP-related protein containing calmodulin-binding motifs. (PMID: 8051149) Weissbach L … Bernards A (The Journal of biological chemistry 1994) 2 3 4 22
- IQGAP1 promotes neurite outgrowth in a phosphorylation-dependent manner. (PMID: 15695813) Li Z … Sacks DB (The Journal of biological chemistry 2005) 3 4 22
- Phosphorylation of IQGAP1 modulates its binding to Cdc42, revealing a new type of rho-GTPase regulator. (PMID: 15355962) Grohmanova K … Kroschewski R (The Journal of biological chemistry 2004) 3 4 22
- IQGAP1, a calmodulin-binding protein with a rasGAP-related domain, is a potential effector for cdc42Hs. (PMID: 8670801) Hart MJ … Polakis P (The EMBO journal 1996) 2 3 4
- The Primate-Specific Gene TMEM14B Marks Outer Radial Glia Cells and Promotes Cortical Expansion and Folding. (PMID: 29033352) Liu J … Wang X (Cell stem cell 2017) 3 4
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