RACGAP1 (Rac GTPase activating protein 1)

Gene Gene information from NCBI Gene database.
Gene miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID 29127
Gene name Rac GTPase activating protein 1
Gene symbol RACGAP1
Synonyms (NCBI Gene)
CDAN3BCYK4HsCYK-4ID-GAPMgcRacGAPRCGAP1
Chromosome 12
Chromosome location 12q13.12
Summary This gene encodes a GTPase-activating protein (GAP) that is a compoment of the centralspindlin complex. This protein binds activated forms of Rho GTPases and stimulates GTP hydrolysis, which results in negative regulation of Rho-mediated signals. This pro
miRNA miRNA information provided by mirtarbase database.
574
Gene miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all (574)
miRTarBase ID miRNA Experiments Reference
MIRT004859 hsa-miR-192-5p Luciferase reporter assayqRT-PCR 19074876
MIRT016327 hsa-miR-193b-3p Microarray 20304954
MIRT024375 hsa-miR-215-5p Microarray 19074876
MIRT004859 hsa-miR-192-5p Microarray 19074876
MIRT004859 hsa-miR-192-5p Reporter assay;Microarray;Other 19074876
Transcription factors Transcription factors information provided by TRRUST V2 database.
2
Gene miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all (2)
Transcription factor Regulation Reference
CUX1 Unknown 21886810
E2F1 Unknown 21886810
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
70
Gene miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all (70)
GO ID Ontology Definition Evidence Reference
GO:0000281 Process Mitotic cytokinesis IBA
GO:0000281 Process Mitotic cytokinesis IC 18511905
GO:0000281 Process Mitotic cytokinesis IDA 11085985, 19468302
GO:0000281 Process Mitotic cytokinesis IMP 16236794, 23235882
GO:0000915 Process Actomyosin contractile ring assembly IMP 16129829
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
Gene miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
MIM HGNC e!Ensembl
604980 9804 ENSG00000161800
Protein Protein information from UniProt database.
Gene miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q9H0H5
Protein name Rac GTPase-activating protein 1 (Male germ cell RacGap) (MgcRacGAP) (Protein CYK4 homolog) (CYK4) (HsCYK-4)
Protein function Component of the centralspindlin complex that serves as a microtubule-dependent and Rho-mediated signaling required for the myosin contractile ring formation during the cell cycle cytokinesis. Required for proper attachment of the midbody to the
PDB 2OVJ , 3W6R , 3WPQ , 3WPS , 4B6D , 5C2J , 5C2K
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00130 C1_1 287 → 338 Phorbol esters/diacylglycerol binding domain (C1 domain) Domain
PF00620 RhoGAP 363 → 511 RhoGAP domain Domain
Tissue specificity TISSUE SPECIFICITY: Highly expressed in testis, thymus and placenta. Expressed at lower levels in spleen and peripheral blood lymphocytes. In testis, expression is restricted to germ cells with the highest levels of expression found in spermatocytes. Expr
Sequence 
MDTMMLNVRNLFEQLVRRVEILSEGNEVQFIQLAKDFEDFRKKWQRTDHELGKYKDLLMK
AETERSALDVKLKHARNQVDVEIKRRQRAEADCEKLERQIQLIREMLMCDTSGSIQLSEE
QKSALAFLNRGQPSSSNAGNKRLSTIDESGSILSDISFDKTDESLDWDSSLVKTFKLKKR
EKRRSTSRQFVDGPPGPVKKTRSIGSAVDQGNESIVAKTTVTVPNDGGPIEAVSTIETVP
YWTRSRRKTGTLQPWNSDSTLNSRQLEPRTETDSVGTPQSNGGMRLHDFVSKTVIKPESC
VPCGKRIKFGKLSLKCRDCRVVSHPECRDRCPLPCIPTLIGTPVKIGEGMLADFVSQTSP
MIPSIVVHCVNEIEQRGLTETGLYRISGCDRTVKELKEKFLRVKTVPLLSKVDDIHAICS
LLKDFLRNLKEPLLTFRLNRAFMEAAEITDEDNSIAAMYQAVGELPQANRDTLAFLMIHL
QRVAQSPHTKMDVANLAKVFGPTIVAHAVPNPDPVTMLQDIKRQPKVVERLLSLPLEYWS
QFMMVEQENIDPLHVIENSNAFSTPQTPDIKVSLLGPVTTPEHQLLKTPSSSSLSQRVRS
TLTKNTPRFGSKSKSATNLGRQGNFFASPMLK
Sequence length 632
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
Gene miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
  Reactome
    Rho GTPase cycle
MHC class II antigen presentation
COPI-dependent Golgi-to-ER retrograde traffic
Kinesins
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
6
Gene miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide Causal Diseases (2)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Anemia, congenital dyserythropoietic, type IIIb Pathogenic rs1948102480, rs760038605, rs1264268274 RCV004564729
RCV003320382
RCV003320490
Anemia, congenital dyserythropoietic, type IIIb, autosomal recessive Pathogenic rs760038605, rs1264268274 RCV001848616
RCV002463185
Show/Hide Unknown Diseases (1)
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Hepatocellular carcinoma Benign rs296737 RCV005921768
Show/Hide Text Mining Associations (30)
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Adenocarcinoma of Lung Associate 32149105, 35810236, 38167018
Adenocarcinoma of Lung Stimulate 32149133
Adrenocortical Carcinoma Associate 32147961
Breast Neoplasms Associate 23497539, 27216196, 29095547, 31638237, 32616754, 33959662, 36726984
Carcinogenesis Associate 28901457
Carcinoma Adenoid Cystic Associate 37861550
Carcinoma Hepatocellular Associate 22539975, 28901457, 30702595, 31811111, 31822116, 33946043, 36553600, 37861550
Carcinoma Hepatocellular Stimulate 35958019
Carcinoma Ovarian Epithelial Associate 29095547
Carcinoma Pancreatic Ductal Associate 29483831