Human Gene IQGAP1 (ENST00000268182.10_4) from GENCODE V47lift37
  Description: IQ motif containing GTPase activating protein 1 (from RefSeq NM_003870.4)
Gencode Transcript: ENST00000268182.10_4
Gencode Gene: ENSG00000140575.13_10
Transcript (Including UTRs)
   Position: hg19 chr15:90,931,474-91,045,471 Size: 113,998 Total Exon Count: 38 Strand: +
Coding Region
   Position: hg19 chr15:90,931,574-91,043,340 Size: 111,767 Coding Exon Count: 38 

Page IndexSequence and LinksUniProtKB CommentsPrimersMalaCardsCTD
Gene AllelesRNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther Species
GO AnnotationsmRNA DescriptionsPathwaysOther NamesModel InformationMethods
Data last updated at UCSC: 2024-08-22 23:36:26

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr15:90,931,474-91,045,471)mRNA (may differ from genome)Protein (1657 aa)
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-  Comments and Description Text from UniProtKB
  ID: IQGA1_HUMAN
DESCRIPTION: RecName: Full=Ras GTPase-activating-like protein IQGAP1; AltName: Full=p195;
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.
SUBUNIT: 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.
INTERACTION: P60953:CDC42; NbExp=2; IntAct=EBI-297509, EBI-81752; P00533:EGFR; NbExp=4; IntAct=EBI-297509, EBI-297353; P04626:ERBB2; NbExp=5; IntAct=EBI-297509, EBI-641062;
SUBCELLULAR LOCATION: Cell membrane.
TISSUE SPECIFICITY: Expressed in the placenta, lung, and kidney. A lower level expression is seen in the heart, liver, skeletal muscle and pancreas.
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.
PTM: 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.
SIMILARITY: Contains 1 CH (calponin-homology) domain.
SIMILARITY: Contains 4 IQ domains.
SIMILARITY: Contains 1 Ras-GAP domain.
SIMILARITY: Contains 1 WW domain.
SEQUENCE CAUTION: Sequence=BAA06123.2; Type=Erroneous initiation;

-  Primer design for this transcript
 

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Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  MalaCards Disease Associations
  MalaCards Gene Search: IQGAP1
Diseases sorted by gene-association score: bullous skin disease (6), wolf-hirschhorn syndrome (5), neuromuscular junction disease (4), leigh syndrome (1)

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene
  • D001564 Benzo(a)pyrene
  • D013749 Tetrachlorodibenzodioxin
  • C404910 2,2-bis(4-hydroxyphenyl)-1,1,1-trichloroethane
  • C472791 3-(4'-hydroxy-3'-adamantylbiphenyl-4-yl)acrylic acid
  • D015123 7,8-Dihydro-7,8-dihydroxybenzo(a)pyrene 9,10-oxide
  • D000082 Acetaminophen
  • D016604 Aflatoxin B1
  • D034341 Aristolochic Acids
  • D017632 Asbestos, Serpentine
  • D017638 Asbestos, Crocidolite
          more ... click here to view the complete list

+  Common Gene Haplotype Alleles
  Press "+" in the title bar above to open this section.

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 58.17 RPKM in Uterus
Total median expression: 1402.69 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -35.90100-0.359 Picture PostScript Text
3' UTR -486.102131-0.228 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR001715 - CH-domain
IPR000048 - IQ_motif_EF-hand-BS
IPR001936 - RasGAP
IPR000593 - RasGAP_C
IPR023152 - RasGAP_CS
IPR008936 - Rho_GTPase_activation_prot
IPR001202 - WW_Rsp5_WWP

Pfam Domains:
PF00307 - Calponin homology (CH) domain
PF00612 - IQ calmodulin-binding motif
PF00616 - GTPase-activator protein for Ras-like GTPase
PF03836 - RasGAP C-terminus

SCOP Domains:
48350 - GTPase activation domain, GAP
47576 - Calponin-homology domain, CH-domain
51045 - WW domain
52540 - P-loop containing nucleoside triphosphate hydrolases
143885 - RGC domain-like

Protein Data Bank (PDB) 3-D Structure
MuPIT help
1X0H - NMR MuPIT 2RR8 - NMR MuPIT 3FAY - X-ray MuPIT 3I6X - X-ray MuPIT


ModBase Predicted Comparative 3D Structure on P46940
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The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologNo orthologNo orthologNo orthologNo orthologNo ortholog
Gene DetailsGene Details    
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-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0005095 GTPase inhibitor activity
GO:0005096 GTPase activator activity
GO:0005509 calcium ion binding
GO:0005515 protein binding
GO:0005516 calmodulin binding
GO:0005547 phosphatidylinositol-3,4,5-trisphosphate binding
GO:0017048 Rho GTPase binding
GO:0019901 protein kinase binding
GO:0019903 protein phosphatase binding
GO:0019904 protein domain specific binding
GO:0043539 protein serine/threonine kinase activator activity
GO:0044548 S100 protein binding
GO:0044877 macromolecular complex binding
GO:0045296 cadherin binding
GO:0048365 Rac GTPase binding
GO:0051019 mitogen-activated protein kinase binding

Biological Process:
GO:0001817 regulation of cytokine production
GO:0007165 signal transduction
GO:0007173 epidermal growth factor receptor signaling pathway
GO:0007346 regulation of mitotic cell cycle
GO:0008543 fibroblast growth factor receptor signaling pathway
GO:0034260 negative regulation of GTPase activity
GO:0035305 negative regulation of dephosphorylation
GO:0036120 cellular response to platelet-derived growth factor stimulus
GO:0043087 regulation of GTPase activity
GO:0043312 neutrophil degranulation
GO:0043406 positive regulation of MAP kinase activity
GO:0043547 positive regulation of GTPase activity
GO:0044344 cellular response to fibroblast growth factor stimulus
GO:0045860 positive regulation of protein kinase activity
GO:0048008 platelet-derived growth factor receptor signaling pathway
GO:0051894 positive regulation of focal adhesion assembly
GO:0071277 cellular response to calcium ion
GO:0071364 cellular response to epidermal growth factor stimulus
GO:0072015 glomerular visceral epithelial cell development
GO:1900006 positive regulation of dendrite development
GO:1900086 positive regulation of peptidyl-tyrosine autophosphorylation
GO:1903829 positive regulation of cellular protein localization
GO:1904754 positive regulation of vascular associated smooth muscle cell migration
GO:1990138 neuron projection extension
GO:1990776 response to angiotensin

Cellular Component:
GO:0001726 ruffle
GO:0005634 nucleus
GO:0005737 cytoplasm
GO:0005829 cytosol
GO:0005874 microtubule
GO:0005884 actin filament
GO:0005886 plasma membrane
GO:0005911 cell-cell junction
GO:0005925 focal adhesion
GO:0015629 actin cytoskeleton
GO:0015630 microtubule cytoskeleton
GO:0016020 membrane
GO:0016328 lateral plasma membrane
GO:0030424 axon
GO:0030426 growth cone
GO:0030496 midbody
GO:0030667 secretory granule membrane
GO:0031234 extrinsic component of cytoplasmic side of plasma membrane
GO:0031252 cell leading edge
GO:0032991 macromolecular complex
GO:0036057 slit diaphragm
GO:0036464 cytoplasmic ribonucleoprotein granule
GO:0043005 neuron projection
GO:0045121 membrane raft
GO:0070062 extracellular exosome
GO:1990904 ribonucleoprotein complex


-  Descriptions from all associated GenBank mRNAs
  D29640 - Homo sapiens KIAA0051 mRNA.
BC151834 - Homo sapiens IQ motif containing GTPase activating protein 1, mRNA (cDNA clone MGC:166899 IMAGE:9007269), complete cds.
AK304337 - Homo sapiens cDNA FLJ55443 complete cds, highly similar to Ras GTPase-activating-like protein IQGAP1.
L33075 - Homo sapiens ras GTPase-activating-like protein (IQGAP1) mRNA, complete cds.
BC005906 - Homo sapiens IQ motif containing GTPase activating protein 1, mRNA (cDNA clone IMAGE:4272972), partial cds.
BC089385 - Homo sapiens IQ motif containing GTPase activating protein 1, mRNA (cDNA clone IMAGE:6185052), partial cds.
BC064971 - Homo sapiens IQ motif containing GTPase activating protein 1, mRNA (cDNA clone IMAGE:6150095), partial cds.
BC139731 - Homo sapiens IQ motif containing GTPase activating protein 1, mRNA (cDNA clone MGC:134938 IMAGE:40073370), complete cds.
BC020549 - Homo sapiens IQ motif containing GTPase activating protein 1, mRNA (cDNA clone IMAGE:3852746), partial cds.
BC037425 - Homo sapiens IQ motif containing GTPase activating protein 1, mRNA (cDNA clone IMAGE:5539472), partial cds.
BC110811 - Homo sapiens IQ motif containing GTPase activating protein 1, mRNA (cDNA clone IMAGE:6014074), partial cds.
AK307643 - Homo sapiens cDNA, FLJ97591.
AB384432 - Synthetic construct DNA, clone: pF1KA0051, Homo sapiens IQGAP1 gene for Ras GTPase-activating-like protein IQGAP1, complete cds, without stop codon, in Flexi system.
JD406278 - Sequence 387302 from Patent EP1572962.
JD460029 - Sequence 441053 from Patent EP1572962.
AK130574 - Homo sapiens cDNA FLJ27064 fis, clone SPL01137.
AF401205 - Homo sapiens IQGAP1 protein mRNA, partial cds.
AK298000 - Homo sapiens cDNA FLJ55816 complete cds, highly similar to Ras GTPase-activating-like protein IQGAP1.
AK055054 - Homo sapiens cDNA FLJ30492 fis, clone BRAWH2000218, highly similar to RAS GTPASE-ACTIVATING-LIKE PROTEIN IQGAP1.
AK125643 - Homo sapiens cDNA FLJ43655 fis, clone SYNOV4002875, moderately similar to Homo sapiens IQ motif containing GTPase activating protein 1 (IQGAP1).
AL110106 - Homo sapiens EST from clone 262918, 5' end.
JD434672 - Sequence 415696 from Patent EP1572962.
JD090688 - Sequence 71712 from Patent EP1572962.
JD511233 - Sequence 492257 from Patent EP1572962.
JD360718 - Sequence 341742 from Patent EP1572962.
JD544771 - Sequence 525795 from Patent EP1572962.
JD074542 - Sequence 55566 from Patent EP1572962.
JD023617 - Sequence 4641 from Patent EP1572962.
BC016714 - Homo sapiens, clone IMAGE:4065996, mRNA.
JD301537 - Sequence 282561 from Patent EP1572962.
JD559418 - Sequence 540442 from Patent EP1572962.
JD299647 - Sequence 280671 from Patent EP1572962.
JD563821 - Sequence 544845 from Patent EP1572962.
JD204550 - Sequence 185574 from Patent EP1572962.
JD374174 - Sequence 355198 from Patent EP1572962.
JD334324 - Sequence 315348 from Patent EP1572962.
JD536523 - Sequence 517547 from Patent EP1572962.
JD215008 - Sequence 196032 from Patent EP1572962.
JD111295 - Sequence 92319 from Patent EP1572962.
JD088710 - Sequence 69734 from Patent EP1572962.
JD434346 - Sequence 415370 from Patent EP1572962.
JD228510 - Sequence 209534 from Patent EP1572962.
JD290148 - Sequence 271172 from Patent EP1572962.
JD285776 - Sequence 266800 from Patent EP1572962.

-  Biochemical and Signaling Pathways
  Reactome (by CSHL, EBI, and GO)

Protein P46940 (Reactome details) participates in the following event(s):

R-HSA-451377 Interaction of IQGAP1 with nephrin
R-HSA-381707 PKA:AKAP79:IQGAP1 complex dissociates to active PKA subunits in response to cAMP
R-HSA-6798743 Exocytosis of secretory granule membrane proteins
R-HSA-5672304 IQGAP1 binds CDH1:CTTNB1:CTTNA1 and MEN1
R-HSA-5672972 MAP2Ks and MAPKs bind to the activated RAF complex
R-HSA-6802912 High kinase activity BRAF mutants bind MAP2Ks and MAPKs
R-HSA-6802914 RAS:GTP:moderate kinase activity p-RAF complexes bind MAP2Ks and MAPKs
R-HSA-6802925 Mutant RAS:p-RAF complexes bind MAP2Ks and MAPKs
R-HSA-6802934 p-BRAF and RAF fusion dimers bind MAP2Ks and MAPKs
R-HSA-6802942 RAS:GTP:p-RAF complexes paradoxically bind MAP2Ks and MAPKs
R-HSA-5672980 Dissociation of RAS:RAF complex
R-HSA-6802932 Dissociation of BRAF/RAF fusion complex
R-HSA-6803227 Dissociation of high activity BRAF complexes
R-HSA-6803230 Dissociation of moderate activity BRAF complexes
R-HSA-6803233 Dissociation of oncogenic RAS:RAF complex
R-HSA-6803234 Dissociation of paradoxically activated RAS:BRAF complexes
R-HSA-5672329 IQGAP1 binds CLIP1 and microtubules
R-HSA-5626469 GTP-bound RAC1 and CDC42 bind IQGAPs
R-HSA-5672978 RAF phosphorylates MAP2K dimer
R-HSA-5672973 MAP2Ks phosphorylate MAPKs
R-HSA-6802918 Activated MAP2Ks phosphorylate MAPKs downstream of inactive BRAF mutants
R-HSA-6802943 RAS:GTP:inactive p-RAF complexes phosphorylate MAP2Ks
R-HSA-6802919 RAS:GTP:moderate kinase activity p-RAF complexes phosphorylate MAP2Ks
R-HSA-6802921 Activated MAP2Ks phosphorylate MAPKs downstream of moderate kinase activity BRAF mutants
R-HSA-6802911 High kinase activity BRAF complexes phosphorylate MAP2Ks
R-HSA-6802910 Activated MAP2Ks phosphorylate MAPKs downstream of high kinase activity BRAF mutants
R-HSA-6802926 Mutant RAS:p-RAF complexes phosphorylate MAP2Ks
R-HSA-6802922 Activated MAP2Ks phosphorylate MAPKs downstream of oncogenic RAS
R-HSA-6802933 p-BRAF and RAF fusion dimers phosphorylate MAP2Ks
R-HSA-6802935 MAPKs are phosphorylated downstream of BRAF and RAF fusion dimers
R-HSA-5626507 IQGAPs bind F-actin, which is inhibited by calmodulin
R-HSA-5626549 IQGAPs bind CALM1
R-HSA-373753 Nephrin family interactions
R-HSA-381676 Glucagon-like Peptide-1 (GLP1) regulates insulin secretion
R-HSA-6798695 Neutrophil degranulation
R-HSA-1500931 Cell-Cell communication
R-HSA-5626467 RHO GTPases activate IQGAPs
R-HSA-5674135 MAP2K and MAPK activation
R-HSA-6802948 Signaling by high-kinase activity BRAF mutants
R-HSA-6802946 Signaling by moderate kinase activity BRAF mutants
R-HSA-6802949 Signaling by RAS mutants
R-HSA-6802952 Signaling by BRAF and RAF fusions
R-HSA-6802955 Paradoxical activation of RAF signaling by kinase inactive BRAF
R-HSA-422356 Regulation of insulin secretion
R-HSA-168249 Innate Immune System
R-HSA-195258 RHO GTPase Effectors
R-HSA-5673001 RAF/MAP kinase cascade
R-HSA-6802957 Oncogenic MAPK signaling
R-HSA-163685 Energy Metabolism
R-HSA-168256 Immune System
R-HSA-194315 Signaling by Rho GTPases
R-HSA-5684996 MAPK1/MAPK3 signaling
R-HSA-5663202 Diseases of signal transduction
R-HSA-1430728 Metabolism
R-HSA-162582 Signal Transduction
R-HSA-5683057 MAPK family signaling cascades
R-HSA-1643685 Disease

-  Other Names for This Gene
  Alternate Gene Symbols: A7MBM3, ENST00000268182.1, ENST00000268182.2, ENST00000268182.3, ENST00000268182.4, ENST00000268182.5, ENST00000268182.6, ENST00000268182.7, ENST00000268182.8, ENST00000268182.9, IQGA1_HUMAN, KIAA0051, NM_003870, P46940, uc317ind.1, uc317ind.2
UCSC ID: ENST00000268182.10_4
RefSeq Accession: NM_003870.4
Protein: P46940 (aka IQGA1_HUMAN or IQG1_HUMAN)

-  Gene Model Information
  Click here for a detailed description of the fields of the table above.

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.