ARHGAP26 (GTPase activating protein for Rho associated with FAK)
2000-11-01 Stig Bojesen , Arndt Borkhardt AffiliationDept. clinical biochemistry, Copenhagen Univeristy hospiatl, Rigshospitalet Blegdamsvej 9 DK-2100 Copenhagen, Denmark
Identity
HGNC
LOCATION
5q31.3
LOCUSID
ALIAS
GRAF,GRAF1,OPHN1L,OPHN1L1
FUSION GENES
DNA/RNA
Description
At least 24 exons.
Transcription
Two isoforms of 2277 bp (leukocytes) and 2442 bp (brain); transcripts of 4,4 and 9,5 kb.
Proteins
Description
Isoform A: 759 amino acids, 86 kDa; isoform B: 814 amino acids, 92 kDa.
Expression
Highly expressed in epithelial tissues i.e. pancreas islet beta-cells, testicles, prostate, mammary gland, GI glands, squamous layer of skin epithelium; highly expressed in nervous tissues including enteric ganglia; expressed in cardiomyocytes, erythropoiesis cells and liver.
Localisation
Mainly cytoplasmatic.
Function
Interacts with FAK and RhoA both in vivo and in vitro; acts as GTPase activating protein (GAP) for the active GTP-bound RhoA; negative regulator of RhoA.
Homology
Oligophrenin-1, Beta-chimerin, BCR.
Mutations
Germinal
Not known
Somatic
GRAF-base 1144, 5 1 TA GAG ACA GGA TTT CAT CAT GTT GGC CAG GTT GGT TTT GAA
42 TTC CTG ACC TCA AGT GAT CCA CCT GCC TCG GCC TCC CAA AGT
84 GGT GGG ATT TTG G 3
......GRAF-base 1145
GRAF-base 1285, 5 1 TC ATC GTT GTC ATA TAA ATC GGC GAG GTA ATA TTC CAT CAG
42 GTA GAC ATA CG 3
...GRAF-base 1286.Predicted STOP codon underlined.
GRAF-base 1988 5 1 G GTT CAT GCG AGT TCA GCA AGC AGT TAC CAT GTC TAC GGC
41 ATG CCA GGA TAC TGT TGG GAA GGT AGT ATT CCG T 3
...GRAF-base 1989
Implicated in
Entity name
Prognosis
Unknown; only a few cases
Hybrid gene
5 MLL 3 GRAF
Fusion protein
MLL-GRAF
Disease
Acute non lymphocytic leukemia and myelodysplastic syndrome with del(5q)
Prognosis
Unknown
Cytogenetics
Oncogenesis
Basically unknown; a bi-allelic loss of GRAF has been documented in three cases of AML.
Article Bibliography
| Pubmed ID | Last Year | Title | Authors |
|---|---|---|---|
| 10908648 | 2000 | The human GRAF gene is fused to MLL in a unique t(5;11)(q31;q23) and both alleles are disrupted in three cases of myelodysplastic syndrome/acute myeloid leukemia with a deletion 5q. | Borkhardt A et al |
Other Information
Locus ID:
NCBI: 23092
MIM: 605370
HGNC: 17073
Ensembl: ENSG00000145819
Variants:
dbSNP: 23092
ClinVar: 23092
TCGA: ENSG00000145819
COSMIC: ARHGAP26
RNA/Proteins
Expression (GTEx)
Pathways
| Pathway | Source | External ID |
|---|---|---|
| Signal Transduction | REACTOME | R-HSA-162582 |
| Signaling by Rho GTPases | REACTOME | R-HSA-194315 |
| Rho GTPase cycle | REACTOME | R-HSA-194840 |
Protein levels (Protein atlas)
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 36849460 | 2023 | CEMIP, acting as a scaffold protein for bridging GRAF1 and MIB1, promotes colorectal cancer metastasis via activating CDC42/MAPK pathway. | 2 |
| 38081847 | 2023 | GRAF1 integrates PINK1-Parkin signaling and actin dynamics to mediate cardiac mitochondrial homeostasis. | 4 |
| 36849460 | 2023 | CEMIP, acting as a scaffold protein for bridging GRAF1 and MIB1, promotes colorectal cancer metastasis via activating CDC42/MAPK pathway. | 2 |
| 38081847 | 2023 | GRAF1 integrates PINK1-Parkin signaling and actin dynamics to mediate cardiac mitochondrial homeostasis. | 4 |
| 34716859 | 2022 | The role of GTPase-activating protein ARHGAP26 in human cancers. | 6 |
| 35171450 | 2022 | Associations of ARHGAP26 Polymorphisms with Alzheimer's Disease and Cardiovascular Disease. | 3 |
| 36292572 | 2022 | Missense Variants in GFRA1 and NPNT Are Associated with Congenital Anomalies of the Kidney and Urinary Tract. | 1 |
| 34716859 | 2022 | The role of GTPase-activating protein ARHGAP26 in human cancers. | 6 |
| 35171450 | 2022 | Associations of ARHGAP26 Polymorphisms with Alzheimer's Disease and Cardiovascular Disease. | 3 |
| 36292572 | 2022 | Missense Variants in GFRA1 and NPNT Are Associated with Congenital Anomalies of the Kidney and Urinary Tract. | 1 |
| 30592323 | 2019 | Hypoxia-induced ARHGAP26 deficiency inhibits the proliferation and migration of human ductus arteriosus smooth muscle cell through activating RhoA-ROCK-PTEN pathway. | 3 |
| 30719998 | 2019 | Circular RNA ARHGAP26 is over-expressed and its downregulation inhibits cell proliferation and promotes cell apoptosis in gastric cancer cells. | 9 |
| 31004081 | 2019 | SMURF1-mediated ubiquitination of ARHGAP26 promotes ovarian cancer cell invasion and migration. | 17 |
| 30592323 | 2019 | Hypoxia-induced ARHGAP26 deficiency inhibits the proliferation and migration of human ductus arteriosus smooth muscle cell through activating RhoA-ROCK-PTEN pathway. | 3 |
| 30719998 | 2019 | Circular RNA ARHGAP26 is over-expressed and its downregulation inhibits cell proliferation and promotes cell apoptosis in gastric cancer cells. | 9 |
Citation
Stig Bojesen ; Arndt Borkhardt
ARHGAP26 (GTPase activating protein for Rho associated with FAK)
Atlas Genet Cytogenet Oncol Haematol. 2000-11-01
Online version: http://atlasgeneticsoncology.org/gene/291/arhgap26-(gtpase-activating-protein-for-rho-associated-with-fak)
