IQGAP3 IQ motif containing GTPase activating protein 3 [Homo sapiens (human)] - Gene

Summary

Official Symbol: IQGAP3provided by HGNC
Official Full Name: IQ motif containing GTPase activating protein 3provided by HGNC
Primary source: HGNC:HGNC:20669
See related: Ensembl:ENSG00000183856 AllianceGenome:HGNC:20669
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Summary: Enables calmodulin binding activity and myosin VI light chain binding activity. Predicted to be involved in regulation of actin cytoskeleton organization. Predicted to act upstream of or within several processes, including intracellular signal transduction; positive regulation of macromolecule metabolic process; and positive regulation of mammary gland epithelial cell proliferation. Predicted to be located in cytosol. Predicted to be active in cytoplasm. [provided by Alliance of Genome Resources, Apr 2022]
Expression: Broad expression in bone marrow (RPKM 5.6), duodenum (RPKM 3.0) and 16 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 1q22

Exon count:: 40

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	1	NC_000001.11 (156525405..156572565, complement)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	1	NC_060925.1 (155663992..155708965, complement)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	1	NC_000001.10 (156495197..156542357, complement)

Chromosome 1 - NC_000001.11 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?

Identification and validation of non-coding RNA-mediated high expression of IQGAP3 in poor prognosis of lung adenocarcinoma.
Title: Identification and validation of non-coding RNA-mediated high expression of IQGAP3 in poor prognosis of lung adenocarcinoma.
IQGAP3 is relevant to prostate cancer: A detailed presentation of potential pathomechanisms.
Title: IQGAP3 is relevant to prostate cancer: A detailed presentation of potential pathomechanisms.
IQGAP3 in clear cell renal cell carcinoma contributes to drug resistance and genome stability.
Title: IQGAP3 in clear cell renal cell carcinoma contributes to drug resistance and genome stability.
CDC42 Regulates Cell Proliferation and Apoptosis in Bladder Cancer via the IQGAP3-Mediated Ras/ERK Pathway.
Title: CDC42 Regulates Cell Proliferation and Apoptosis in Bladder Cancer via the IQGAP3-Mediated Ras/ERK Pathway.
Comprehensive Multiomics Analysis Identified IQGAP3 as a Potential Prognostic Marker in Pan-Cancer.
Title: Comprehensive Multiomics Analysis Identified IQGAP3 as a Potential Prognostic Marker in Pan-Cancer.
IQGAP3, a YAP Target, Is Required for Proper Cell-Cycle Progression and Genome Stability.
Title: IQGAP3, a YAP Target, Is Required for Proper Cell-Cycle Progression and Genome Stability.
Enhancement of Migration and Invasion of Gastric Cancer Cells by IQGAP3.
Title: Enhancement of Migration and Invasion of Gastric Cancer Cells by IQGAP3.
IQGAP3 interacts with Rad17 to recruit the Mre11-Rad50-Nbs1 complex and contributes to radioresistance in lung cancer.
Title: IQGAP3 interacts with Rad17 to recruit the Mre11-Rad50-Nbs1 complex and contributes to radioresistance in lung cancer.
IQGAP3 was upregulated in colorectal cancer at the tissue level and cellular level. Based on immunohistochemistry results of the tissue microarrays, authors demonstrated that higher expression of IQGAP3 was associated with higher tumor node metastasis stage (P = 0.005), higher incidence of lymph node metastasis (P = 0.004), and shorter overall survival (P = 0.022).
Title: High expression of IQGAP3 indicates poor prognosis in colorectal cancer patients.
Data found that the IQGAP3/BMP4 ratio in urinary cell-free DNA (ucfDNA) was significantly associated with recurrence-free survival (RFS) and progression-free survival (PFS) in non-muscle-invasive bladder cancer (NMIBC) patients suggesting that the IQGAP3/BMP4 ratio in ucfDNA may be an important independent factor for NMIBC prognosis.
Title: Urinary Cell-Free DNA IQGAP3/BMP4 Ratio as a Prognostic Marker for Non-Muscle-Invasive Bladder Cancer.

Submit: New GeneRIF Correction See all GeneRIFs (21)

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)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

SHGC-147771 (e-PCR)
- UniSTS:175999

D1S2557 (e-PCR)
- UniSTS:11941

SHGC-146556 (e-PCR)
- UniSTS:175289

SHGC-146655 (e-PCR)
- UniSTS:175355

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables GTPase activator activity	IBA Inferred from Biological aspect of Ancestor more info
enables actin filament binding	IBA Inferred from Biological aspect of Ancestor more info
enables calmodulin binding	IBA Inferred from Biological aspect of Ancestor more info
enables calmodulin binding	IPI Inferred from Physical Interaction more info	PubMed
enables myosin VI light chain binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables small GTPase binding	IEA Inferred from Electronic Annotation more info

Process	Evidence Code	Pubs
involved_in ERK1 and ERK2 cascade	IEA Inferred from Electronic Annotation more info
involved_in G1/S transition of mitotic cell cycle	IEA Inferred from Electronic Annotation more info
involved_in Ras protein signal transduction	IEA Inferred from Electronic Annotation more info
involved_in cellular response to organic substance	IEA Inferred from Electronic Annotation more info
involved_in gene expression	IEA Inferred from Electronic Annotation more info
involved_in mammary gland epithelial cell proliferation	IEA Inferred from Electronic Annotation 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 gene expression	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of MAPK cascade	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of gene expression	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of mammary gland epithelial cell proliferation	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of protein phosphorylation	IEA Inferred from Electronic Annotation more info
involved_in regulation of cell size	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
is_active_in cell cortex	IBA Inferred from Biological aspect of Ancestor more info
located_in cell-cell junction	IEA Inferred from Electronic Annotation more info
located_in cytosol	TAS Traceable Author Statement more info
located_in lateral plasma membrane	IEA Inferred from Electronic Annotation more info

General protein information

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Preferred Names: ras GTPase-activating-like protein IQGAP3

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.

mRNA and Protein(s)

NM_178229.5 → NP_839943.3 ras GTPase-activating-like protein IQGAP3

Status: VALIDATED

Source sequence(s)

AL365181

Consensus CDS

CCDS1144.1

UniProtKB/Swiss-Prot

Q5T3H8, Q86VI3

UniProtKB/TrEMBL

A2RRC9

Related

ENSP00000354451.2, ENST00000361170.7

Conserved Domains (3) summary

cd12207
Location:987 → 1336

RasGAP_IQGAP3; Ras-GTPase Activating Domain of IQ motif containing GTPase activating protein 3

cl27227
Location:861 → 1631

RasGAP_C; RasGAP C-terminus

cl27381
Location:734 → 957

Myosin_head; Myosin head (motor domain)

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

NC_000001.11 Reference GRCh38.p14 Primary Assembly

Range

156525405..156572565 complement

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_047445996.1 → XP_047301952.1 ras GTPase-activating-like protein IQGAP3 isoform X3
XM_047445990.1 → XP_047301946.1 ras GTPase-activating-like protein IQGAP3 isoform X2
XM_011509198.4 → XP_011507500.1 ras GTPase-activating-like protein IQGAP3 isoform X1

UniProtKB/TrEMBL

A2RRC9

Conserved Domains (5) summary

smart00015
Location:768 → 785

IQ; Calmodulin-binding motif

cd12207
Location:992 → 1341

RasGAP_IQGAP3; Ras-GTPase Activating Domain of IQ motif containing GTPase activating protein 3

smart00323
Location:981 → 1334

RasGAP; GTPase-activator protein for Ras-like GTPases

cd00014
Location:40 → 152

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 ...

pfam03836
Location:1453 → 1559

RasGAP_C; RasGAP C-terminus
XM_047446003.1 → XP_047301959.1 ras GTPase-activating-like protein IQGAP3 isoform X4
XM_011509201.2 → XP_011507503.1 ras GTPase-activating-like protein IQGAP3 isoform X6

Conserved Domains (4) summary

smart00015
Location:267 → 284

IQ; Calmodulin-binding motif

cd12207
Location:491 → 840

RasGAP_IQGAP3; Ras-GTPase Activating Domain of IQ motif containing GTPase activating protein 3

smart00323
Location:480 → 833

RasGAP; GTPase-activator protein for Ras-like GTPases

pfam03836
Location:952 → 1058

RasGAP_C; RasGAP C-terminus
XM_011509200.3 → XP_011507502.1 ras GTPase-activating-like protein IQGAP3 isoform X5

Conserved Domains (4) summary

smart00015
Location:321 → 338

IQ; Calmodulin-binding motif

cd12207
Location:545 → 894

RasGAP_IQGAP3; Ras-GTPase Activating Domain of IQ motif containing GTPase activating protein 3

smart00323
Location:534 → 887

RasGAP; GTPase-activator protein for Ras-like GTPases

pfam03836
Location:1006 → 1112

RasGAP_C; RasGAP C-terminus

Reference GRCh38.p14 PATCHES

Genomic

NW_025791758.1 Reference GRCh38.p14 PATCHES

Range

83962..131166 complement

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_054332827.1 → XP_054188802.1 ras GTPase-activating-like protein IQGAP3 isoform X1
XM_054332828.1 → XP_054188803.1 ras GTPase-activating-like protein IQGAP3 isoform X2
XM_054332829.1 → XP_054188804.1 ras GTPase-activating-like protein IQGAP3 isoform X3
XM_054332830.1 → XP_054188805.1 ras GTPase-activating-like protein IQGAP3 isoform X4
XM_054332832.1 → XP_054188807.1 ras GTPase-activating-like protein IQGAP3 isoform X6
XM_054332831.1 → XP_054188806.1 ras GTPase-activating-like protein IQGAP3 isoform X5

Alternate T2T-CHM13v2.0

Genomic

NC_060925.1 Alternate T2T-CHM13v2.0

Range

155663992..155708965 complement

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_054334424.1 → XP_054190399.1 ras GTPase-activating-like protein IQGAP3 isoform X1
XM_054334425.1 → XP_054190400.1 ras GTPase-activating-like protein IQGAP3 isoform X2
XM_054334422.1 → XP_054190397.1 ras GTPase-activating-like protein IQGAP3 isoform X8
XM_054334421.1 → XP_054190396.1 ras GTPase-activating-like protein IQGAP3 isoform X7
XM_054334426.1 → XP_054190401.1 ras GTPase-activating-like protein IQGAP3 isoform X3
XM_054334423.1 → XP_054190398.1 ras GTPase-activating-like protein IQGAP3 isoform X9
XM_054334427.1 → XP_054190402.1 ras GTPase-activating-like protein IQGAP3 isoform X10
XM_054334429.1 → XP_054190404.1 ras GTPase-activating-like protein IQGAP3 isoform X6
XM_054334428.1 → XP_054190403.1 ras GTPase-activating-like protein IQGAP3 isoform X5