IQGAP1 IQ motif containing GTPase activating protein 1 [Homo sapiens (human)] - Gene

Summary

Official Symbol: IQGAP1provided by HGNC
Official Full Name: IQ motif containing GTPase activating protein 1provided by HGNC
Primary source: HGNC:HGNC:6110
See related: Ensembl:ENSG00000140575 MIM:603379; AllianceGenome:HGNC:6110
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: SAR1; p195; HUMORFA01
Summary: 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]
Expression: Ubiquitous expression in colon (RPKM 49.8), appendix (RPKM 48.4) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 15q26.1

Exon count:: 39

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	15	NC_000015.10 (90388242..90502239)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	15	NC_060939.1 (88144255..88258256)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	15	NC_000015.9 (90931474..91045471)

Chromosome 15 - NC_000015.10 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

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Expression

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See details

Project title: HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Tight junction protein cingulin variant is associated with cancer susceptibility by overexpressed IQGAP1 and Rac1-dependent epithelial-mesenchymal transition.
Title: Tight junction protein cingulin variant is associated with cancer susceptibility by overexpressed IQGAP1 and Rac1-dependent epithelial-mesenchymal transition.
IQGAP1 promotes mitochondrial damage and activation of the mtDNA sensor cGAS-STING pathway to induce endothelial cell pyroptosis leading to atherosclerosis.
Title: IQGAP1 promotes mitochondrial damage and activation of the mtDNA sensor cGAS-STING pathway to induce endothelial cell pyroptosis leading to atherosclerosis.
7-Ketocholesterol Promotes Retinal Pigment Epithelium Senescence and Fibrosis of Choroidal Neovascularization via IQGAP1 Phosphorylation-Dependent Signaling.
Title: 7-Ketocholesterol Promotes Retinal Pigment Epithelium Senescence and Fibrosis of Choroidal Neovascularization via IQGAP1 Phosphorylation-Dependent Signaling.
The IQGAP scaffolds: Critical nodes bridging receptor activation to cellular signaling.
Title: The IQGAP scaffolds: Critical nodes bridging receptor activation to cellular signaling.
Novel Approach Using shRNA of IQGAP1 for Colon Cancer Therapy: HCT166 as a Surrogate Model Colorectal Carcinoma.
Title: Novel Approach Using shRNA of IQGAP1 for Colon Cancer Therapy: HCT116 as a Surrogate Model Colorectal Carcinoma.
IQGAP1 is positively correlated with PD-L1 and regulates its expression via mediating STAT proteins phosphorylation.
Title: IQGAP1 is positively correlated with PD-L1 and regulates its expression via mediating STAT proteins phosphorylation.
IQGAP1 enhances cell invasion and matrix metalloproteinase-2 expression through upregulating NF-kappaB activity in esophageal squamous cell carcinoma cells.
Title: IQGAP1 enhances cell invasion and matrix metalloproteinase-2 expression through upregulating NF-κB activity in esophageal squamous cell carcinoma cells.
Single-molecule imaging of IQGAP1 regulating actin filament dynamics.
Title: Single-molecule imaging of IQGAP1 regulating actin filament dynamics.
IQGAP1-mediated mechanical signaling promotes the foreign body response to biomedical implants.
Title: IQGAP1-mediated mechanical signaling promotes the foreign body response to biomedical implants.
AmotL2, IQGAP1, and FKBP51 Scaffold Proteins in Glioblastoma Stem Cell Niches.
Title: AmotL2, IQGAP1, and FKBP51 Scaffold Proteins in Glioblastoma Stem Cell Niches.

Submit: New GeneRIF Correction See all GeneRIFs (194)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

HIV-1 interactions

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Protein interactions

Protein	Gene	Interaction	Pubs
Envelope surface glycoprotein gp120	env	Tandem affinity purification and mass spectrometry analysis identify IQ motif containing GTPase activating protein 1 (IQGAP1), HIV-1 Gag, Gag/Pol, gp120, and Nef incorporated into staufen1 RNP complexes isolated from HIV-1-expressing cells	PubMed
Gag-Pol	gag-pol	Tandem affinity purification and mass spectrometry analysis identify IQ motif containing GTPase activating protein 1 (IQGAP1), HIV-1 Gag, Gag/Pol, gp120, and Nef incorporated into staufen1 RNP complexes isolated from HIV-1-expressing cells	PubMed
Nef	nef	Tandem affinity purification and mass spectrometry analysis identify IQ motif containing GTPase activating protein 1 (IQGAP1), HIV-1 Gag, Gag/Pol, gp120, and Nef incorporated into staufen1 RNP complexes isolated from HIV-1-expressing cells	PubMed
Pr55(Gag)	gag	Tandem affinity purification and mass spectrometry analysis identify IQ motif containing GTPase activating protein 1 (IQGAP1), HIV-1 Gag, Gag/Pol, gp120, and Nef incorporated into staufen1 RNP complexes isolated from HIV-1-expressing cells	PubMed

Go to the HIV-1, Human Interaction Database

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

RH25287 (e-PCR)
- UniSTS:89118

RH65701 (e-PCR)
- UniSTS:51755

D15S996 (e-PCR)
- UniSTS:42288

D15S544 (e-PCR)
- UniSTS:149812

RH44885 (e-PCR)
- UniSTS:7012

SHGC-79221 (e-PCR)
- UniSTS:102758

D15S1082 (e-PCR)
- UniSTS:82552

RH17825 (e-PCR)
- UniSTS:2475

D15S946 (e-PCR)
- UniSTS:77232

D15S1312 (e-PCR)
- UniSTS:70581

RH76514 (e-PCR)
- UniSTS:84664

RH78456 (e-PCR)
- UniSTS:33208

G09894 (e-PCR)
- UniSTS:54975

PMC311040P11 (e-PCR)
- UniSTS:272848

PMC311040P15 (e-PCR)
- UniSTS:272852

D15S1178 (e-PCR)
- UniSTS:9175

G43353 (e-PCR)
- UniSTS:94947

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables GTPase activator activity	IBA Inferred from Biological aspect of Ancestor more info
enables GTPase inhibitor activity	TAS Traceable Author Statement more info	PubMed
enables MAP-kinase scaffold activity	IPI Inferred from Physical Interaction more info	PubMed
enables S100 protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables actin filament binding	IBA Inferred from Biological aspect of Ancestor more info
enables cadherin binding	HDA more info	PubMed
enables calcium ion binding	IDA Inferred from Direct Assay more info	PubMed
enables calmodulin binding	IBA Inferred from Biological aspect of Ancestor more info
enables calmodulin binding	IDA Inferred from Direct Assay more info	PubMed
enables molecular adaptor activity	IDA Inferred from Direct Assay more info	PubMed
enables phosphatidylinositol-3,4,5-trisphosphate binding	IDA Inferred from Direct Assay more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein domain specific binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein kinase binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein phosphatase binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein serine/threonine kinase activator activity	IDA Inferred from Direct Assay more info	PubMed
enables small GTPase binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in MAPK cascade	IEA Inferred from Electronic Annotation more info
involved_in cell migration	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in cellular response to calcium ion	IDA Inferred from Direct Assay more info	PubMed
involved_in cellular response to epidermal growth factor stimulus	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in cellular response to platelet-derived growth factor stimulus	IEA Inferred from Electronic Annotation more info
involved_in epidermal growth factor receptor signaling pathway	IBA Inferred from Biological aspect of Ancestor more info
involved_in epidermal growth factor receptor signaling pathway	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in fibroblast growth factor receptor signaling pathway	IEA Inferred from Electronic Annotation more info
involved_in fibroblast migration	IBA Inferred from Biological aspect of Ancestor more info
involved_in mitotic actomyosin contractile ring assembly actin filament organization	IBA Inferred from Biological aspect of Ancestor more info
involved_in negative regulation of dephosphorylation	IEA Inferred from Electronic Annotation more info
involved_in neuron projection extension	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in platelet-derived growth factor receptor signaling pathway	IEA Inferred from Electronic Annotation more info
involved_in podocyte development	ISS Inferred from Sequence or Structural Similarity more info
involved_in positive regulation of MAPK cascade	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of protein kinase activity	IBA Inferred from Biological aspect of Ancestor more info
involved_in positive regulation of protein kinase activity	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in regulation of cytokine production	IEA Inferred from Electronic Annotation more info
involved_in regulation of mitotic cell cycle	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in signal transduction	TAS Traceable Author Statement more info	PubMed

Component	Evidence Code	Pubs
colocalizes_with actin cytoskeleton	ISS Inferred from Sequence or Structural Similarity more info
located_in actin filament	TAS Traceable Author Statement more info	PubMed
located_in apical plasma membrane	IDA Inferred from Direct Assay more info	PubMed
located_in axon	ISS Inferred from Sequence or Structural Similarity more info
located_in basolateral plasma membrane	IEA Inferred from Electronic Annotation more info
is_active_in cell cortex	IBA Inferred from Biological aspect of Ancestor more info
located_in cortical actin cytoskeleton	IEA Inferred from Electronic Annotation more info
located_in cytoplasm	IDA Inferred from Direct Assay more info	PubMed
located_in cytoplasmic ribonucleoprotein granule	IDA Inferred from Direct Assay more info	PubMed
located_in cytoplasmic side of plasma membrane	IDA Inferred from Direct Assay more info	PubMed
located_in cytosol	TAS Traceable Author Statement more info
located_in extracellular exosome	HDA more info	PubMed
located_in focal adhesion	HDA more info	PubMed
located_in growth cone	ISS Inferred from Sequence or Structural Similarity more info
located_in lateral plasma membrane	IEA Inferred from Electronic Annotation more info
located_in microtubule	IDA Inferred from Direct Assay more info	PubMed
colocalizes_with microtubule cytoskeleton	ISS Inferred from Sequence or Structural Similarity more info
located_in midbody	IDA Inferred from Direct Assay more info	PubMed
located_in neuron projection	ISS Inferred from Sequence or Structural Similarity more info
is_active_in nucleus	IBA Inferred from Biological aspect of Ancestor more info
located_in nucleus	IDA Inferred from Direct Assay more info	PubMed
located_in plasma membrane	IDA Inferred from Direct Assay more info	PubMed
located_in plasma membrane	TAS Traceable Author Statement more info
part_of ribonucleoprotein complex	IEA Inferred from Electronic Annotation more info
located_in ruffle	IDA Inferred from Direct Assay more info	PubMed
located_in secretory granule membrane	TAS Traceable Author Statement more info
located_in slit diaphragm	ISS Inferred from Sequence or Structural Similarity more info

General protein information

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Preferred Names: ras GTPase-activating-like protein IQGAP1

Names: RasGAP-like with IQ motifs

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

NG_052946.1 RefSeqGene

Range

5002..118999

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_003870.4 → NP_003861.1 ras GTPase-activating-like protein IQGAP1

See identical proteins and their annotated locations for NP_003861.1

Status: REVIEWED

Source sequence(s)

AI924000, BC016714, D29640

Consensus CDS

CCDS10362.1

UniProtKB/Swiss-Prot

A7MBM3, P46940

UniProtKB/TrEMBL

A4QPB0

Related

ENSP00000268182.5, ENST00000268182.10

Conserved Domains (6) summary

smart00015
Location:774 → 796

IQ; Calmodulin-binding motif

cd05133
Location:1003 → 1382

RasGAP_IQGAP1; Ras-GTPase Activating Domain of IQ motif containing GTPase activating protein 1

smart00323
Location:992 → 1344

RasGAP; GTPase-activator protein for Ras-like GTPases

cd00014
Location:45 → 159

CH; Calponin homology domain; actin-binding domain which may be present as a single copy or in tandem repeats (which increases binding affinity). The CH domain is found in cytoskeletal and signal transduction proteins, including actin-binding proteins like ...

cd00201
Location:685 → 710

WW; Two conserved tryptophans domain; also known as the WWP or rsp5 domain; around 40 amino acids; functions as an interaction module in a diverse set of signalling proteins; binds specific proline-rich sequences but at low affinities compared to other ...

pfam03836
Location:1452 → 1580

RasGAP_C; RasGAP C-terminus