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Aliases for IQGAP1 Gene

Aliases for IQGAP1 Gene

  • IQ Motif Containing GTPase Activating Protein 1 2 3 5
  • RasGAP-Like With IQ Motifs 2 3
  • P195 3 4
  • Ras GTPase-Activating-Like Protein IQGAP1 3
  • HUMORFA01 3
  • KIAA0051 4
  • SAR1 3

External Ids for IQGAP1 Gene

Previous GeneCards Identifiers for IQGAP1 Gene

  • GC15M087129
  • GC15P084438
  • GC15P088518
  • GC15P088661
  • GC15P088732
  • GC15P090931
  • GC15P067043

Summaries for IQGAP1 Gene

Entrez Gene Summary 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 Bullous Skin Disease and Wolf-Hirschhorn Syndrome. Among its related pathways are RET signaling and Oncogenic MAPK signaling. 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 for IQGAP1 Gene

  • 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.

Gene Wiki entry for IQGAP1 Gene

Additional gene information for IQGAP1 Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for IQGAP1 Gene

Genomics for IQGAP1 Gene

Regulatory Elements for IQGAP1 Gene

Enhancers for IQGAP1 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH15H090398 2 FANTOM5 Ensembl ENCODE dbSUPER 35.3 +15.6 15583 11 HDGF PKNOX1 FOXA2 ARID4B SIN3A FEZF1 ZNF766 FOS JUNB MIER3 IQGAP1 ZNF774 CRTC3 LOC100631255 UNC45A RPL36AP43 ENSG00000259212 GABARAPL3 VPS33B ARPIN
GH15H090411 1.8 FANTOM5 Ensembl ENCODE dbSUPER 37 +25.3 25329 4 PKNOX1 SIN3A SCRT2 FOS RCOR1 RUNX3 IKZF2 SMARCA5 ZNF362 CEBPB IQGAP1 ZNF710 CIB1 FES ENSG00000259177 GC15P090443
GH15H090361 1.4 Ensembl ENCODE dbSUPER 42 -24.9 -24884 4 ATF1 BRCA1 RAD21 RFX5 ZNF766 GATA2 ZNF143 RCOR1 FOS RUNX3 IQGAP1 GDPGP1 NGRN CRTC3 ZNF774 CIB1 PEX11A GC15M090347 GC15P090381
GH15H090477 1.1 ENCODE dbSUPER 46.1 +91.6 91632 3 TBP PKNOX1 NFIB SIN3A RFX5 FOS RCOR1 RUNX3 SMARCC1 HCFC1 IQGAP1 CRTC3 GABARAPL3 ZNF774 NGRN ENSG00000200677 GC15P090443
GH15H090418 1.4 Ensembl ENCODE dbSUPER 33.5 +31.9 31932 3 INSM2 KLF17 FEZF1 BATF ZEB1 RFX5 ZNF366 ZSCAN5C RCOR1 ATF7 IQGAP1 ZNF774 ENSG00000259177 GC15P090443
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around IQGAP1 on UCSC Golden Path with GeneCards custom track

Promoters for IQGAP1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000081058 382 2001 HDGF ATF1 ARID4B SIN3A DMAP1 YY1 ZNF121 GLIS2 CBX5 ELK1

Genomic Location for IQGAP1 Gene

Chromosome:
15
Start:
90,388,218 bp from pter
End:
90,502,243 bp from pter
Size:
114,026 bases
Orientation:
Plus strand

Genomic View for IQGAP1 Gene

Genes around IQGAP1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
IQGAP1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for IQGAP1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene 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
    Secondary Accessions:
    • 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. Interacts with RAC1. Does not interact with RHOA. Interacts with TSG101. Interacts with PAK6.
    SequenceCaution:
    • Sequence=BAA06123.2; Type=Erroneous initiation; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for IQGAP1 Gene

neXtProt entry 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 posLast=8888, isoforms=348, isoforms=811, posLast=10881088, posLast=11441144, posLast=11551155, isoforms=1165, posLast=12301230, posLast=14771477, and isoforms=1528
  • Modification sites at PhosphoSitePlus

Other Protein References for IQGAP1 Gene

Antibody Products

  • Cell Signaling Technology (CST) Antibodies for IQGAP1 (IQGAP1)
  • Abcam antibodies for IQGAP1

No data available for DME Specific Peptides for IQGAP1 Gene

Domains & Families for IQGAP1 Gene

Gene Families for IQGAP1 Gene

Human Protein Atlas (HPA):
  • Plasma proteins
  • Predicted intracellular proteins

Graphical View of Domain Structure for InterPro Entry

P46940

UniProtKB/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.
genes like me logo Genes that share domains with IQGAP1: view

Function for IQGAP1 Gene

Molecular function for IQGAP1 Gene

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
UniProtKB/Swiss-Prot Function:
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.

Phenotypes From GWAS Catalog for IQGAP1 Gene

Gene Ontology (GO) - Molecular Function for IQGAP1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005095 GTPase inhibitor activity TAS 8670801
GO:0005096 GTPase activator activity TAS 8051149
GO:0005509 calcium ion binding TAS 18567582
GO:0005515 protein binding IPI 8670801
GO:0005516 calmodulin binding IPI,IDA 18567582
genes like me logo Genes that share ontologies with IQGAP1: view
genes like me logo Genes that share phenotypes with IQGAP1: view

Animal Models for IQGAP1 Gene

MGI Knock Outs for IQGAP1:

Animal Model Products

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for IQGAP1
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

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.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for IQGAP1 gene
Compartment Confidence
plasma membrane 5
extracellular 5
cytoskeleton 5
cytosol 5
nucleus 4
endosome 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cell Junctions (3)
  • Plasma membrane (3)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for IQGAP1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001726 ruffle IDA 25554515
GO:0005634 nucleus IEA --
GO:0005737 cytoplasm IEA,IDA 25554515
GO:0005829 cytosol TAS --
GO:0005874 microtubule IDA 21525035
genes like me logo Genes that share ontologies with IQGAP1: view

Pathways & Interactions for IQGAP1 Gene

SuperPathways for IQGAP1 Gene

SuperPathway Contained pathways
1 RET signaling
2 Signaling by moderate kinase activity BRAF mutants
3 Innate Immune System
4 Regulation of actin cytoskeleton
5 Developmental Biology
genes like me logo Genes that share pathways with IQGAP1: view

SIGNOR curated interactions for IQGAP1 Gene

Is activated by:

Gene Ontology (GO) - Biological Process for IQGAP1 Gene

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:0008543 fibroblast growth factor receptor signaling pathway IEA --
GO:0034260 negative regulation of GTPase activity IEA --
genes like me logo Genes that share ontologies with IQGAP1: view

Drugs & Compounds for IQGAP1 Gene

(5) Drugs for IQGAP1 Gene - From: HMDB and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Guanosine triphosphate Experimental Pharma 0

(4) Additional Compounds for IQGAP1 Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with IQGAP1: view

Transcripts for IQGAP1 Gene

Unigene Clusters for IQGAP1 Gene

IQ motif containing GTPase activating protein 1:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for IQGAP1
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

Alternative Splicing Database (ASD) splice patterns (SP) for IQGAP1 Gene

No ASD Table

Relevant External Links for IQGAP1 Gene

GeneLoc Exon Structure for
IQGAP1
ECgene alternative splicing isoforms for
IQGAP1

Expression for IQGAP1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for IQGAP1 Gene

mRNA differential expression in normal tissues according to GTEx for IQGAP1 Gene

This gene is overexpressed in Whole Blood (x5.7).

Protein differential expression in normal tissues from HIPED for IQGAP1 Gene

This gene is overexpressed in Tlymphocyte (7.4).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for IQGAP1 Gene



Protein tissue co-expression partners for IQGAP1 Gene

NURSA nuclear receptor signaling pathways regulating expression of IQGAP1 Gene:

IQGAP1

SOURCE GeneReport for Unigene cluster for IQGAP1 Gene:

Hs.430551

mRNA 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(4.6)
  • Bone marrow(4.3)
  • Nervous system(3.9)
  • Lung(3.2)
  • Intestine(3.1)
  • Pancreas(3.1)
  • Kidney(3)
  • Blood(2.7)
  • Heart(2.6)
  • Lymph node(2.3)
  • Spleen(2.3)
  • Adrenal gland(2.2)
  • Stomach(2.2)
  • Muscle(2.1)
genes like me logo Genes that share expression patterns with IQGAP1: view

Primer Products

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.

Orthologs for IQGAP1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia IQGAP1 33 34
  • 99.74 (n)
cow
(Bos Taurus)
Mammalia IQGAP1 34
  • 96 (a)
OneToOne
dog
(Canis familiaris)
Mammalia IQGAP1 33 34
  • 92.09 (n)
oppossum
(Monodelphis domestica)
Mammalia IQGAP1 34
  • 92 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia -- 34
  • 89 (a)
OneToMany
-- 34
  • 87 (a)
OneToMany
-- 34
  • 84 (a)
OneToMany
-- 34
  • 74 (a)
OneToMany
mouse
(Mus musculus)
Mammalia Iqgap1 33 16 34
  • 88.57 (n)
rat
(Rattus norvegicus)
Mammalia Iqgap1 33
  • 88.39 (n)
chicken
(Gallus gallus)
Aves IQGAP1 33 34
  • 79.11 (n)
lizard
(Anolis carolinensis)
Reptilia IQGAP1 34
  • 74 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia iqgap1 33
  • 74.44 (n)
African clawed frog
(Xenopus laevis)
Amphibia XIQGAP1 33
zebrafish
(Danio rerio)
Actinopterygii iqgap1 33 34
  • 69.95 (n)
Dr.17687 33
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.515 33
worm
(Caenorhabditis elegans)
Secernentea pes-7 34
  • 27 (a)
OneToMany
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes IQG1 34
  • 20 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 49 (a)
OneToMany
Species where no ortholog for IQGAP1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya 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 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)

Paralogs for IQGAP1 Gene

Paralogs for IQGAP1 Gene

(2) SIMAP similar genes for IQGAP1 Gene using alignment to 7 proteins:

genes like me logo Genes that share paralogs with IQGAP1: view

Variants for IQGAP1 Gene

Sequence variations from dbSNP and Humsavar for IQGAP1 Gene

SNP ID Clin Chr 15 pos Sequence Context AA Info Type
rs886039901 Uncertain significance 90,482,219(+) TTGCC(A/G)AAGTG nc-transcript-variant, reference, missense
rs1000010620 -- 90,435,419(+) TGCAG(C/T)GAGCT intron-variant
rs1000019001 -- 90,389,824(+) TGGTG(C/G)CCCAT intron-variant
rs1000055867 -- 90,476,101(+) TGGCA(A/G)ATTAT intron-variant
rs1000064933 -- 90,435,101(+) CATTG(A/G)AATCA intron-variant

Structural Variations from Database of Genomic Variants (DGV) for IQGAP1 Gene

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

Variation tolerance for IQGAP1 Gene

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)

Relevant External Links for IQGAP1 Gene

Human Gene Mutation Database (HGMD)
IQGAP1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
IQGAP1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for IQGAP1 Gene

Disorders for IQGAP1 Gene

MalaCards: The human disease database

(4) MalaCards diseases for IQGAP1 Gene - From: HGMD, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
bullous skin disease
  • skin diseases bullous
wolf-hirschhorn syndrome
  • 4p deletion syndrome
neuromuscular junction disease
  • neuromuscular junction diseases
leigh syndrome
  • leigh syndrome due to mitochondrial complex i deficiency
- elite association - COSMIC cancer census association via MalaCards

Relevant External Links for IQGAP1

Human Genome Epidemiology (HuGE) Navigator
IQGAP1
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
IQGAP1
genes like me logo Genes that share disorders with IQGAP1: view

No data available for UniProtKB/Swiss-Prot and Genatlas for IQGAP1 Gene

Publications for IQGAP1 Gene

  1. 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 60
  2. IQGAP1 promotes neurite outgrowth in a phosphorylation-dependent manner. (PMID: 15695813) Li Z … Sacks DB (The Journal of biological chemistry 2005) 3 4 22 60
  3. 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 60
  4. 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 60
  5. Overexpression of IQGAP1 in advanced colorectal cancer correlates with poor prognosis-critical role in tumor invasion. (PMID: 19856315) Hayashi H … Iwasaki H (International journal of cancer 2010) 3 22 60

Products for IQGAP1 Gene

Sources for IQGAP1 Gene

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