ARHGAP25

ARHGAP25
Available structures PDB Ortholog search: PDBe RCSB List of PDB id codes 1V89
Identifiers
Aliases	ARHGAP25 , HEL-S-308, KAIA0053, Rho GTPase activating protein 25
External IDs	OMIM: 610587 MGI: 2443687 HomoloGene: 45507 GeneCards: ARHGAP25
Gene location (Human) Chr. Chromosome 2 (human) [1] Band 2p13.3 Start 68,679,601 bp [1] End 68,826,833 bp [1]
Gene location (Mouse) Chr. Chromosome 6 (mouse) [2] Band 6|6 D1 Start 87,435,527 bp [2] End 87,510,241 bp [2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in blood spleen lymph node monocyte bone marrow cells appendix periodontal fiber thymus spongy bone upper lobe of left lung Top expressed in spleen thymus bone marrow blood subcutaneous adipose tissue middle ear Eustachian tube primary motor cortex lip esophagus More reference expression data BioGPS n/a
Gene ontology Molecular function GTPase activator activity Cellular component cytosol phagocytic cup Biological process positive regulation of GTPase activity regulation of small GTPase mediated signal transduction signal transduction phagocytosis, engulfment actin filament organization negative regulation of small GTPase mediated signal transduction Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 9938 232201 Ensembl ENSG00000163219 ENSMUSG00000030047 UniProt P42331 Q8BYW1 RefSeq (mRNA) NM_001007231 NM_001166276 NM_001166277 NM_014882 NM_001364819 NM_001364820 NM_001364821 NM_001037727 NM_001286610 NM_175476 RefSeq (protein) NP_001007232 NP_001159748 NP_001159749 NP_055697 NP_001351748 NP_001351749 NP_001351750 NP_001032816 NP_001273539 NP_780685 Location (UCSC) Chr 2: 68.68 – 68.83 Mb Chr 6: 87.44 – 87.51 Mb PubMed search [3] [4]
Wikidata
View/Edit Human View/Edit Mouse

Rho GTPase activating protein 25 is a protein that in humans is encoded by the ARHGAP25 gene. ^[5] The gene is also known as KAIA0053. ^[5] ARHGAP25 belongs to a family of Rho GTPase-modulating proteins that are implicated in actin remodeling, cell polarity, and cell migration. ^[6]

Model organisms

Arhgap25 knockout mouse phenotype

Characteristic	Phenotype
Homozygote viability	Normal
Fertility	Normal
Body weight	Normal
Anxiety	Normal
Neurological assessment	Normal
Grip strength	Normal
Hot plate	Normal
Dysmorphology	Normal
Indirect calorimetry	Normal
Glucose tolerance test	Normal
Auditory brainstem response	Normal
DEXA	Normal
Radiography	Normal
Body temperature	Normal
Eye morphology	Abnormal [7]
Clinical chemistry	Normal [8]
Haematology	Normal
Micronucleus test	Normal
Heart weight	Normal
Salmonella infection	Normal [9]
Citrobacter infection	Normal [10]
All tests and analysis from [11] [12]

Model organisms have been used in the study of ARHGAP25 function. A conditional knockout mouse line, called Arhgap25^{tm1a(KOMP)Wtsi [13] [14]} was generated as part of the International Knockout Mouse Consortium program — a high-throughput mutagenesis project to generate and distribute animal models of disease to interested scientists. ^{[15] [16] [17]}

Male and female animals underwent a standardized phenotypic screen to determine the effects of deletion. ^{[11] [18]} Twenty-one tests were carried out on homozygous-mutant mice and one significant abnormality was observed: abnormal retina morphology and pigmentation. ^[11]

References

1. GRCh38: Ensembl release 89: ENSG00000163219 - Ensembl, May 2017
2. GRCm38: Ensembl release 89: ENSMUSG00000030047 - Ensembl, May 2017
3. "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
4. "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
5. "Rho GTPase activating protein 25" . Retrieved 2011-12-05.
6. Katoh M, Katoh M (August 2004). "Identification and characterization of ARHGAP24 and ARHGAP25 genes in silico". International Journal of Molecular Medicine. 14 (2): 333–8. doi:10.3892/ijmm.14.2.333. PMID   15254788.
7. "Eye morphology data for Arhgap25". Wellcome Trust Sanger Institute.
8. "Clinical chemistry data for Arhgap25". Wellcome Trust Sanger Institute.
9. "Salmonella infection data for Arhgap25". Wellcome Trust Sanger Institute.
10. "Citrobacter infection data for Arhgap25". Wellcome Trust Sanger Institute.
11. Gerdin AK (2010). "The Sanger Mouse Genetics Programme: High throughput characterisation of knockout mice". Acta Ophthalmologica. 88: 925–7. doi:10.1111/j.1755-3768.2010.4142.x. S2CID   85911512.
12. Mouse Resources Portal, Wellcome Trust Sanger Institute.
13. "International Knockout Mouse Consortium".
14. "Mouse Genome Informatics".
15. Skarnes WC, Rosen B, West AP, Koutsourakis M, Bushell W, Iyer V, Mujica AO, Thomas M, Harrow J, Cox T, Jackson D, Severin J, Biggs P, Fu J, Nefedov M, de Jong PJ, Stewart AF, Bradley A (June 2011). "A conditional knockout resource for the genome-wide study of mouse gene function". Nature. 474 (7351): 337–42. doi:10.1038/nature10163. PMC   3572410 . PMID   21677750.
16. Dolgin E (June 2011). "Mouse library set to be knockout". Nature. 474 (7351): 262–3. doi:10.1038/474262a. PMID   21677718.
17. Collins FS, Rossant J, Wurst W (January 2007). "A mouse for all reasons". Cell. 128 (1): 9–13. doi: 10.1016/j.cell.2006.12.018 . PMID   17218247. S2CID   18872015.
18. van der Weyden L, White JK, Adams DJ, Logan DW (June 2011). "The mouse genetics toolkit: revealing function and mechanism". Genome Biology. 12 (6): 224. doi:10.1186/gb-2011-12-6-224. PMC   3218837 . PMID   21722353.

Further reading

• Takefuji M, Asano H, Mori K, Amano M, Kato K, Watanabe T, Morita Y, Katsumi A, Itoh T, Takenawa T, Hirashiki A, Izawa H, Nagata K, Hirayama H, Takatsu F, Naoe T, Yokota M, Kaibuchi K (January 2010). "Mutation of ARHGAP9 in patients with coronary spastic angina". Journal of Human Genetics. 55 (1): 42–9. doi: 10.1038/jhg.2009.120 . PMID   19911011.
• Nomura N, Nagase T, Miyajima N, Sazuka T, Tanaka A, Sato S, Seki N, Kawarabayasi Y, Ishikawa K, Tabata S (1994). "Prediction of the coding sequences of unidentified human genes. II. The coding sequences of 40 new genes (KIAA0041-KIAA0080) deduced by analysis of cDNA clones from human cell line KG-1". DNA Research. 1 (5): 223–9. doi: 10.1093/dnares/1.5.223 . PMID   7584044.