ARHGAP26 (Rho GTPase activating protein 26)

Gene

• Entrez ID: 23092
• Gene name: Rho GTPase activating protein 26
• Gene symbol: ARHGAP26
• Synonyms: GRAF, GRAF1, OPHN1L, OPHN1L1
• Chromosome: 5
• Chromosome location: 5q31.3
• Summary: Interaction of a cell with the extracellular matrix triggers integrin cell surface receptors to begin signaling cascades that regulate the organization of the actin-cytoskeleton. One of the proteins involved in these cascades is focal adhesion kinase. The protein encoded by this gene is a GTPase activating protein that binds to focal adhesion kinase and mediates the activity of the GTP binding proteins RhoA and Cdc42. Defects in this gene are a cause of juvenile myelomonocytic leukemia (JMML). Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Mar 2017]

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs121918546	A>C,G	Pathogenic	Missense variant, coding sequence variant, non coding transcript variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT042845	hsa-miR-324-3p	CLASH	23622248
MIRT044784	hsa-miR-320a	CLASH	23622248
MIRT052044	hsa-let-7b-5p	CLASH	23622248
MIRT438301	hsa-miR-573	Luciferase reporter assay	24067935
MIRT669511	hsa-miR-525-5p	HITS-CLIP	23824327
MIRT669512	hsa-miR-520a-5p	HITS-CLIP	23824327
MIRT669513	hsa-miR-365b-5p	HITS-CLIP	23824327
MIRT669514	hsa-miR-365a-5p	HITS-CLIP	23824327
MIRT669515	hsa-miR-8052	HITS-CLIP	23824327
MIRT669516	hsa-miR-3199	HITS-CLIP	23824327
MIRT669517	hsa-miR-6747-3p	HITS-CLIP	23824327
MIRT669518	hsa-miR-6727-3p	HITS-CLIP	23824327
MIRT669519	hsa-miR-4722-3p	HITS-CLIP	23824327
MIRT784573	hsa-miR-3121-5p	HITS-CLIP	27418678
MIRT785113	hsa-miR-3672	HITS-CLIP	27418678
MIRT789118	hsa-miR-6864-3p	HITS-CLIP	27418678

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005096	Function	GTPase activator activity	IBA	21873635
GO:0005096	Function	GTPase activator activity	NAS	10908648
GO:0005515	Function	Protein binding	IPI	11432776, 25416956
GO:0005543	Function	Phospholipid binding	IDA	18954304
GO:0005575	Component	Cellular_component	ND
GO:0005829	Component	Cytosol	TAS
GO:0005856	Component	Cytoskeleton	IEA
GO:0005925	Component	Focal adhesion	IEA
GO:0007165	Process	Signal transduction	IEA
GO:0007399	Process	Nervous system development	NAS	9582072
GO:0030036	Process	Actin cytoskeleton organization	NAS	11998687
GO:0043547	Process	Positive regulation of GTPase activity	IEA
GO:0051056	Process	Regulation of small GTPase mediated signal transduction	TAS

Other IDs

• MIM: 605370
• HGNC: 17073
• e!Ensembl: ENSG00000145819

Protein

• UniProt ID: Q9UNA1
• Protein name: Rho GTPase-activating protein 26 (GTPase regulator associated with focal adhesion kinase) (Oligophrenin-1-like protein) (Rho-type GTPase-activating protein 26)
• Protein function: GTPase-activating protein for RHOA and CDC42.
• PDB: 1UGV
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF16746	BAR_3	6 → 249		Domain
  PF00169	PH	266 → 366	PH domain	Domain
  PF00620	RhoGAP	391 → 545	RhoGAP domain	Domain
  PF14604	SH3_9	763 → 812	Variant SH3 domain	Domain

• Sequence:

  MGLPALEFSDCCLDSPHFRETLKSHEAELDKTNKFIKELIKDGKSLISALKNLSSAKRKF
  ADSLNEFKFQCIGDAETDDEMCIARSLQEFATVLRNLEDERIRMIENASEVLITPLEKFR
  KEQIGAAKEAKKKYDKETEKYCGILEKHLNLSSKKKESQLQEADSQVDLVRQHFYEVSLE
  YVFKVQEVQERKMFEFVEPLLAFLQGLFTFYHHGYELAKDFGDFKTQLTISIQNTRNRFE
  GTRSEVESLMKKMKENPLEHKTISPYTMEGYLYVQEKRHFGTSWVKHYCTYQRDSKQITM
  VPFDQKSGGKGGEDESVILKSCTRRKTDSIEKRFCFDVEAVDRPGVITMQALSEEDRRLW
  MEAMDGREPVYNSNKDSQSEGTAQLDSIGFSIIRKCIHAVETRGINEQGLYRIVGVNSRV
  QKLLSVLMDPKTASETETDICAEWEIKTITSALKTYLRMLPGPLMMYQFQRSFIKAAKLE
  NQESRVSEIHSLVHRLPEKNRQMLQLLMNHLANVANNHKQNLMTVANLGVVFGPTLLRPQ
  EETVAAIMDIKFQNIVIEILIENHEKIFNTVPDMPLTNAQLHLSRKKSSDSKPPSCSERP
  LTLFHTVQSTEKQEQRNSIINSSLESVSSNPNSILNSSSSLQPNMNSSDPDLAVVKPTRP
  NSLPPNPSPTSPLSPSWPMFSAPSSPMPTSSTSSDSSPVRSVAGFVWFSVAAVVLSLARS
  SLHAVFSLLVNFVPCHPNLHLLFDRPEEAVHEDSSTPFRKAKALYACKAEHDSELSFTAG
  TVFDNVHPSQEPGWLEGTLNGKTGLIPENYVEFL

• Sequence length: 814

Pathways

Reactome:

Rho GTPase cycle

Associated diseases

Causal
Disease name	Disease term	dbSNP ID	References
Myelomonocytic leukemia	Myelomonocytic leukemia, Juvenile Myelomonocytic Leukemia	rs137854555, rs-1, rs267606602, rs267606604, rs137854562, rs267606607, rs121918546, rs112445441, rs121913529, rs121913530, rs121918465, rs267606708, rs267606706, rs121434596, rs121913237, rs397514641, rs199474747, rs199474728, rs199474781, rs587781807, rs727504426, rs786203950, rs786202782, rs1321848637, rs786202457, rs786204157, rs267606599, rs1555535032, rs864622161, rs878853865, rs199474737, rs199474742, rs1057518904, rs771820789, rs1057518974, rs1057518807, rs1057521098, rs1057521848, rs1060500273, rs376576925, rs1060500356, rs1060500363, rs1060500245, rs1060500387, rs1064794278, rs1085307819, rs753245823, rs1135402868, rs1135402894, rs1555610893, rs1555610881, rs771115661, rs1555614453, rs753529924, rs1555618572, rs1555534697, rs1555610905, rs1555613543, rs1131691105, rs1555534893, rs1060500376, rs1060500355, rs1567845945, rs1567817974, rs1567818033, rs1597713360, rs1555614462, rs137854553, rs1597831990, rs1597858459, rs1597858594, rs876657932, rs1597681200, rs1597866846, rs1597710409, rs2066138676, rs2066507116, rs2066874267, rs2066874810, rs1555614354, rs786202177, rs2069448326, rs2069793099, rs863224445
Coronary artery disease	Coronary Artery Disease	rs137852988, rs121918313, rs-1, rs121918529, rs121918531, rs137852340, rs405509, rs1555800701, rs1215189537	29212778, 23202125
Leukemia	Leukemia, Myelocytic, Acute	rs-1, rs121909646, rs121913488, rs587776834, rs752746786, rs869312821, rs767454740, rs1554564297
Myelodysplastic syndrome	MYELODYSPLASTIC SYNDROME	rs193303018, rs387906631, rs1576745225, rs373145711, rs752746786, rs377023736, rs373221034, rs1576749014, rs1600586587

Unknown
Disease name	Disease term	dbSNP ID	References
Psychosis	Psychotic Disorders		26298328