IQGAP3 (IQ motif containing GTPase activating protein 3)

Gene

• Entrez ID: 128239
• Gene name: IQ motif containing GTPase activating protein 3
• Gene symbol: IQGAP3
• Synonyms: -
• Chromosome: 1
• Chromosome location: 1q22

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs1571320137	A>T	Likely-pathogenic	Intron variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT001363	hsa-miR-1-3p	pSILAC	18668040
MIRT001363	hsa-miR-1-3p	Proteomics;Other	18668040
MIRT1070068	hsa-miR-128	CLIP-seq
MIRT1070069	hsa-miR-140-3p	CLIP-seq
MIRT1070070	hsa-miR-3591-5p	CLIP-seq
MIRT1070071	hsa-miR-4424	CLIP-seq
MIRT1070072	hsa-miR-4710	CLIP-seq
MIRT1070073	hsa-miR-4792	CLIP-seq
MIRT2017198	hsa-miR-3925-5p	CLIP-seq
MIRT2017199	hsa-miR-4632	CLIP-seq
MIRT2017200	hsa-miR-4641	CLIP-seq
MIRT2017201	hsa-miR-4709-5p	CLIP-seq
MIRT2017202	hsa-miR-520a-5p	CLIP-seq
MIRT2017203	hsa-miR-525-5p	CLIP-seq
MIRT2017204	hsa-miR-640	CLIP-seq
MIRT2017205	hsa-miR-759	CLIP-seq
MIRT2249140	hsa-miR-1225-5p	CLIP-seq
MIRT2249141	hsa-miR-127-5p	CLIP-seq
MIRT2249142	hsa-miR-186	CLIP-seq
MIRT2249143	hsa-miR-2392	CLIP-seq
MIRT2249144	hsa-miR-2467-3p	CLIP-seq
MIRT2249145	hsa-miR-29a	CLIP-seq
MIRT2249146	hsa-miR-29b	CLIP-seq
MIRT2249147	hsa-miR-29c	CLIP-seq
MIRT2249148	hsa-miR-3132	CLIP-seq
MIRT2249149	hsa-miR-3184	CLIP-seq
MIRT2249150	hsa-miR-34a	CLIP-seq
MIRT2249151	hsa-miR-34c-5p	CLIP-seq
MIRT2017198	hsa-miR-3925-5p	CLIP-seq
MIRT2249152	hsa-miR-423-5p	CLIP-seq
MIRT2249153	hsa-miR-4259	CLIP-seq
MIRT2249154	hsa-miR-4422	CLIP-seq
MIRT2249155	hsa-miR-449a	CLIP-seq
MIRT2249156	hsa-miR-449b	CLIP-seq
MIRT2249157	hsa-miR-4635	CLIP-seq
MIRT2249158	hsa-miR-4726-3p	CLIP-seq
MIRT2249159	hsa-miR-4731-5p	CLIP-seq
MIRT2249160	hsa-miR-486-3p	CLIP-seq
MIRT2017202	hsa-miR-520a-5p	CLIP-seq
MIRT2249161	hsa-miR-520f	CLIP-seq
MIRT2017203	hsa-miR-525-5p	CLIP-seq
MIRT2249162	hsa-miR-636	CLIP-seq
MIRT2017204	hsa-miR-640	CLIP-seq
MIRT2017205	hsa-miR-759	CLIP-seq
MIRT2249163	hsa-miR-940	CLIP-seq
MIRT2249149	hsa-miR-3184	CLIP-seq
MIRT2249152	hsa-miR-423-5p	CLIP-seq
MIRT2017202	hsa-miR-520a-5p	CLIP-seq
MIRT2017203	hsa-miR-525-5p	CLIP-seq
MIRT2249149	hsa-miR-3184	CLIP-seq
MIRT2249152	hsa-miR-423-5p	CLIP-seq
MIRT2017202	hsa-miR-520a-5p	CLIP-seq
MIRT2017203	hsa-miR-525-5p	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000082	Process	G1/S transition of mitotic cell cycle	IEA
GO:0000187	Process	Activation of MAPK activity	IEA
GO:0005096	Function	GTPase activator activity	IBA	21873635
GO:0005515	Function	Protein binding	IPI	32814053
GO:0005516	Function	Calmodulin binding	IBA	21873635
GO:0005516	Function	Calmodulin binding	IPI	21299499
GO:0005737	Component	Cytoplasm	IBA	21873635
GO:0005829	Component	Cytosol	TAS
GO:0005911	Component	Cell-cell junction	IEA
GO:0007265	Process	Ras protein signal transduction	IEA
GO:0008361	Process	Regulation of cell size	IEA
GO:0010628	Process	Positive regulation of gene expression	IEA
GO:0010629	Process	Negative regulation of gene expression	IEA
GO:0016328	Component	Lateral plasma membrane	IEA
GO:0032956	Process	Regulation of actin cytoskeleton organization	IBA	21873635
GO:0033601	Process	Positive regulation of mammary gland epithelial cell proliferation	IEA
GO:0043547	Process	Positive regulation of GTPase activity	IEA
GO:0051015	Function	Actin filament binding	IBA	21873635
GO:0070371	Process	ERK1 and ERK2 cascade	IEA
GO:0070856	Function	Myosin VI light chain binding	IPI	21299499
GO:0071310	Process	Cellular response to organic substance	IEA

Other IDs

• MIM: 621092
• HGNC: 20669
• e!Ensembl: ENSG00000183856

Protein

• UniProt ID: Q86VI3
• Protein name: Ras GTPase-activating-like protein IQGAP3
• PDB: 3ISU
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00307	CH	34 → 150	Calponin homology (CH) domain	Domain
  PF00612	IQ	733 → 751	IQ calmodulin-binding motif	Motif
  PF00612	IQ	761 → 781	IQ calmodulin-binding motif	Motif
  PF00612	IQ	791 → 811	IQ calmodulin-binding motif	Motif
  PF00612	IQ	821 → 841	IQ calmodulin-binding motif	Motif
  PF00616	RasGAP	1009 → 1221	GTPase-activator protein for Ras-like GTPase	Family
  PF03836	RasGAP_C	1433 → 1554	RasGAP C-terminus	Family

• Sequence:

  MERRAAGPGWAAYERLTAEEMDEQRRQNVAYQYLCRLEEAKRWMEACLKEELPSPVELEE
  SLRNGVLLAKLGHCFAPSVVPLKKIYDVEQLRYQATGLHFRHTDNINFWLSAIAHIGLPS
  TFFPETTDIYDKKNMPRVVYCIHALSLFLFRLGLAPQIHDLYGKVKFTAEELSNMASELA
  KYGLQLPAFSKIGGILANELSVDEAAVHAAVLAINEAVERGVVEDTLAALQNPSALLENL
  REPLAAVYQEMLAQAKMEKAANARNHDDRESQDIYDHYLTQAEIQGNINHVNVHGALEVV
  DDALERQSPEALLKALQDPALALRGVRRDFADWYLEQLNSDREQKAQELGLVELLEKEEV
  QAGVAAANTKGDQEQAMLHAVQRINKAIRRRVAADTVKELMCPEAQLPPVYPVASSMYQL
  ELAVLQQQQGELGQEELFVAVEMLSAVVLINRALEARDASGFWSSLVNPATGLAEVEGEN
  AQRYFDALLKLRQERGMGEDFLSWNDLQATVSQVNAQTQEETDRVLAVSLINEALDKGSP
  EKTLSALLLPAAGLDDVSLPVAPRYHLLLVAAKRQKAQVTGDPGAVLWLEEIRQGVVRAN
  QDTNTAQRMALGVAAINQAIKEGKAAQTERVLRNPAVALRGVVPDCANGYQRALESAMAK
  KQRPADTAFWVQHDMKDGTAYYFHLQTFQGIWEQPPGCPLNTSHLTREEIQSAVTKVTAA
  YDRQQLWKANVGFVIQLQARLRGFLVRQKFAEHSHFLRTWLPAVIKIQAHWRGYRQRKIY
  LEWLQYFKANLDAIIKIQAWARMWAARRQYLRRLHYFQKNVNSIVKIQAFFRARKAQDDY
  RILVHAPHPPLSVVRRFAHLLNQSQQDFLAEAELLKLQEEVVRKIRSNQQLEQDLNIMDI
  KIGLLVKNRITLQEVVSHCKKLTKRNKEQLSDMMVLDKQKGLKSLSKEKRQKLEAYQHLF
  YLLQTQPIYLAKLIFQMPQNKTTKFMEAVIFSLYNYASSRREAYLLLQLFKTALQEEIKS
  KVEQPQDVVTGNPTVVRLVVRFYRNGRGQSALQEILGKVIQDVLEDKVLSVHTDPVHLYK
  NWINQTEAQTGQRSHLPYDVTPEQALSHPEVQRRLDIALRNLLAMTDKFLLAITSSVDQI
  PYGMRYVAKVLKATLAEKFPDATDSEVYKVVGNLLYYRFLNPAVVAPDAFDIVAMAAGGA
  LAAPQRHALGAVAQLLQHAAAGKAFSGQSQHLRVLNDYLEETHLKFRKFIHRACQVPEPE
  ERFAVDEYSDMVAVAKPMVYITVGELVNTHRLLLEHQDCIAPDHQDPLHELLEDLGELPT
  IPDLIGESIAADGHTDLSKLEVSLTLTNKFEGLEADADDSNTRSLLLSTKQLLADIIQFH
  PGDTLKEILSLSASREQEAAHKQLMSRRQACTAQTPEPLRRHRSLTAHSLLPLAEKQRRV
  LRNLRRLEALGLVSARNGYQGLVDELAKDIRNQHRHRHRRKAELVKLQATLQGLSTKTTF
  YEEQGDYYSQYIRACLDHLAPDSKSSGKGKKQPSLHYTAAQLLEKGVLVEIEDLPASHFR
  NVIFDITPGDEAGKFEVNAKFLGVDMERFQLHYQDLLQLQYEGVAVMKLFNKAKVNVNLL
  IFLLNKKFLRK

• Sequence length: 1631

Pathways

KEGG:

Regulation of actin cytoskeleton

Reactome:

RHO GTPases activate IQGAPs

Associated diseases

Causal
Disease name	Disease term	dbSNP ID	References
Autism spectrum disorder	Autism Spectrum Disorders	rs724159978, rs75184679, rs119103221, rs9332964, rs121912562, rs1594344233, rs727504317, rs111033204, rs1801086, rs587784464, rs724159948, rs764659822, rs794727977, rs796052733, rs796052728, rs762292772, rs864321694, rs869312878, rs758432471, rs750896617, rs886039692, rs886039770, rs201037487, rs200483989, rs1057518198, rs1057517708, rs780267761, rs1555910143, rs1057519632, rs775225727, rs751037529, rs1064794848, rs1064795655, rs1131691548, rs1135401811, rs1553248081, rs1454466097, rs1554480537, rs1553578503, rs1553518509, rs774152851, rs1554481395, rs1554464807, rs1554401434, rs1452048149, rs370498156, rs756691187, rs1557863430, rs1557863440, rs1557863546, rs769581210, rs202098093, rs1276388879, rs778792467, rs760059077, rs373783340, rs1557867853, rs772572695, rs753214391, rs749270162, rs548226228, rs1557870645, rs1557874046, rs749548928, rs754532606, rs1557901347, rs1557902023, rs1557909572, rs574335012, rs1557909821, rs1372713010, rs561369202, rs1476293577, rs1557910728, rs1557911386, rs375045125, rs998675361, rs1557916296, rs1557935477, rs866632178, rs1561824498, rs1396313317, rs1564801388, rs1564801473, rs1564950387, rs1565527302, rs1569513495, rs1569305431, rs143944436, rs1563183492, rs1561846159, rs1565819425, rs1562957809, rs1585645641, rs1585016242, rs1595127294, rs1585667374, rs1585653028, rs1585653240, rs1592919048, rs1585645384, rs1789927813	28191889

Unknown
Disease name	Disease term	dbSNP ID	References
Liver carcinoma	Liver carcinoma		28284560