Gene Gene information from NCBI Gene database.
Entrez ID 8826
Gene name IQ motif containing GTPase activating protein 1
Gene symbol IQGAP1
Synonyms (NCBI Gene)
HUMORFA01SAR1p195
Chromosome 15
Chromosome location 15q26.1
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 sign
miRNA miRNA information provided by mirtarbase database.
769
miRTarBase ID miRNA Experiments Reference
MIRT002697 hsa-miR-124-3p Luciferase reporter assayqRT-PCRWestern blot 19843643
MIRT002697 hsa-miR-124-3p Luciferase reporter assayqRT-PCRWestern blot 19843643
MIRT002697 hsa-miR-124-3p Luciferase reporter assayqRT-PCRWestern blot 19843643
MIRT002697 hsa-miR-124-3p Luciferase reporter assayqRT-PCRWestern blot 19843643
MIRT002697 hsa-miR-124-3p Luciferase reporter assayMicroarray 15685193
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
88
GO ID Ontology Definition Evidence Reference
GO:0000165 Process MAPK cascade IEA
GO:0001726 Component Ruffle IDA 25554515, 26242911
GO:0001817 Process Regulation of cytokine production IEA
GO:0005078 Function MAP-kinase scaffold activity IPI 18567582
GO:0005095 Function GTPase inhibitor activity IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
603379 6110 ENSG00000140575
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
P46940
Protein name Ras GTPase-activating-like protein IQGAP1 (p195)
Protein function Plays a crucial role in regulating the dynamics and assembly of the actin cytoskeleton. Recruited to the cell cortex by interaction with ILK which allows it to cooperate with its effector DIAPH1 to locally stabilize microtubules and allow stable
PDB 1X0H , 2RR8 , 3FAY , 3I6X , 5L0O
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00307 CH 44 161 Calponin homology (CH) domain Domain
PF00612 IQ 747 766 IQ calmodulin-binding motif Motif
PF00612 IQ 776 796 IQ calmodulin-binding motif Motif
PF00612 IQ 806 826 IQ calmodulin-binding motif Motif
PF00612 IQ 837 856 IQ calmodulin-binding motif Motif
PF00616 RasGAP 1025 1237 GTPase-activator protein for Ras-like GTPase Family
PF03836 RasGAP_C 1452 1580 RasGAP C-terminus Family
Tissue specificity TISSUE SPECIFICITY: Expressed in the placenta, lung, and kidney (PubMed:8051149). A lower level expression is seen in the heart, liver, skeletal muscle and pancreas (PubMed:8051149). {ECO:0000269|PubMed:8051149}.
Sequence
MSAADEVDGLGVARPHYGSVLDNERLTAEEMDERRRQNVAYEYLCHLEEAKRWMEACLGE
DLPPTTELEEGLRNGVYLAKLGNFFSPKVVSLKKIYDREQTRYKATGLHFRHTDNVIQWL
NAMDEIGLPKIFYPETTDIYDRKNMPRCIYCIHALSLYLFK
LGLAPQIQDLYGKVDFTEE
EINNMKTELEKYGIQMPAFSKIGGILANELSVDEAALHAAVIAINEAIDRRIPADTFAAL
KNPNAMLVNLEEPLASTYQDILYQAKQDKMTNAKNRTENSERERDVYEELLTQAEIQGNI
NKVNTFSALANIDLALEQGDALALFRALQSPALGLRGLQQQNSDWYLKQLLSDKQQKRQS
GQTDPLQKEELQSGVDAANSAAQQYQRRLAAVALINAAIQKGVAEKTVLELMNPEAQLPQ
VYPFAADLYQKELATLQRQSPEHNLTHPELSVAVEMLSSVALINRALESGDVNTVWKQLS
SSVTGLTNIEEENCQRYLDELMKLKAQAHAENNEFITWNDIQACVDHVNLVVQEEHERIL
AIGLINEALDEGDAQKTLQALQIPAAKLEGVLAEVAQHYQDTLIRAKREKAQEIQDESAV
LWLDEIQGGIWQSNKDTQEAQKFALGIFAINEAVESGDVGKTLSALRSPDVGLYGVIPEC
GETYHSDLAEAKKKKLAVGDNNSKWVKHWVKGGYYYYHNLETQEGGWDEPPNFVQNSMQL
SREEIQSSISGVTAAYNREQLWLANEGLITRLQARCRGYLVRQEFRSRMNFLKKQIPAIT
CIQSQWRGYKQKKAYQ
DRLAYLRSHKDEVVKIQSLARMHQARKRYRDRLQYFRDHINDII
KIQAFIRANKARDDYK
TLINAEDPPMVVVRKFVHLLDQSDQDFQEELDLMKMREEVITLI
RSNQQLENDLNLMDIKIGLLVKNKITLQDVVSHSKKLTKKNKEQLSDMMMINKQKGGLKA
LSKEKREKLEAYQHLFYLLQTNPTYLAKLIFQMPQNKSTKFMDSVIFTLYNYASNQREEY
LLLRLFKTALQEEIKSKVDQIQEIVTGNPTVIKMVVSFNRGARGQNALRQILAPVVKEIM
DDKSLNIKTDPVDIYKSWVNQMESQTGEASKLPYDVTPEQALAHEEVKTRLDSSIRNMRA
VTDKFLSAIVSSVDKIPYGMRFIAKVLKDSLHEKFPDAGEDELLKIIGNLLYYRYMNPAI
VAPDAFDIIDLSAGGQLTTDQRRNLGSIAKMLQHAAS
NKMFLGDNAHLSIINEYLSQSYQ
KFRRFFQTACDVPELQDKFNVDEYSDLVTLTKPVIYISIGEIINTHTLLLDHQDAIAPEH
NDPIHELLDDLGEVPTIESLIGESSGNLNDPNKEALAKTEVSLTLTNKFDVPGDENAEMD
ARTILLNTKRLIVDVIRFQPGETLTEILETPATSEQEAEHQRAMQRRAIRDAKTPDKMKK
SKSVKEDSNLTLQEKKEKIQTGLKKLTELGTVDPKNKYQELINDIARDIRNQRRYRQRRK
AELVKLQQTYAALNSKATFYGEQVDYYKSYIKTCLDNLASKGKVSKKPREMKGKKSKKIS
LKYTAARLHEKGVLLEIEDL
QVNQFKNVIFEISPTEEVGDFEVKAKFMGVQMETFMLHYQ
DLLQLQYEGVAVMKLFDRAKVNVNLLIFLLNKKFYGK
Sequence length 1657
Interactions View interactions
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
15
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
ALZHEIMER DISEASE GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
ANDROGENETIC ALOPECIA GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
ASTHMA GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
ATOPIC ECZEMA GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Adenocarcinoma Adenocarcinoma BEFREE 15706411
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma Adenocarcinoma LHGDN 16387427
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma of lung (disorder) Lung adenocarcinoma BEFREE 15706411
★☆☆☆☆
Found in Text Mining only
Adenomatous Polyposis Coli Multiple polyposis syndrome BEFREE 17143298
★☆☆☆☆
Found in Text Mining only
Alopecia Alopecia GWASCAT_DG 28196072
★☆☆☆☆
Found in Text Mining only
Anaplastic thyroid carcinoma Anaplastic thyroid cancer BEFREE 20959410
★☆☆☆☆
Found in Text Mining only
ANOPHTHALMIA AND PULMONARY HYPOPLASIA Syndromic microphthalmia BEFREE 28720574, 30540680, 31101875
★☆☆☆☆
Found in Text Mining only
Anophthalmia with pulmonary hypoplasia Anophthalmia Pubtator 32799327 Associate
★☆☆☆☆
Found in Text Mining only
Arthritis Arthritis BEFREE 31484924
★☆☆☆☆
Found in Text Mining only
Arthritis Rheumatoid Rheumatoid arthritis Pubtator 36614150 Associate
★☆☆☆☆
Found in Text Mining only