RACGAP1
Rac GTPase-activating protein 1
Also known as: CYK4, MgcRacGAP, RGAP1_HUMAN
Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene
Protein identityUniProt · HPA
- UniProt accession
- Q9H0H5
- Gene
- RACGAP1
- Ensembl
- ENSG00000161800
- Chromosome
- 12
- Canonical length
- 632 aa
- Protein class
- Disease related genes, Human disease related genes, Predicted intracellular proteins
- Subcellular location
- Nucleoplasm
OverviewNCBI Gene
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 protein plays a regulatory role in cytokinesis, cell growth, and differentiation. Alternatively spliced transcript variants have been found for this gene. There is a pseudogene for this gene on chromosome 12. [provided by RefSeq, Feb 2016]
Canonical amino-acid sequenceUniProt
632 residues, UniProt reviewed canonical sequence.
>Q9H0H5|RACGAP1
1 MDTMMLNVRN LFEQLVRRVE ILSEGNEVQF IQLAKDFEDF RKKWQRTDHE LGKYKDLLMK
61 AETERSALDV KLKHARNQVD VEIKRRQRAE ADCEKLERQI QLIREMLMCD TSGSIQLSEE
121 QKSALAFLNR GQPSSSNAGN KRLSTIDESG SILSDISFDK TDESLDWDSS LVKTFKLKKR
181 EKRRSTSRQF VDGPPGPVKK TRSIGSAVDQ GNESIVAKTT VTVPNDGGPI EAVSTIETVP
241 YWTRSRRKTG TLQPWNSDST LNSRQLEPRT ETDSVGTPQS NGGMRLHDFV SKTVIKPESC
301 VPCGKRIKFG KLSLKCRDCR VVSHPECRDR CPLPCIPTLI GTPVKIGEGM LADFVSQTSP
361 MIPSIVVHCV NEIEQRGLTE TGLYRISGCD RTVKELKEKF LRVKTVPLLS KVDDIHAICS
421 LLKDFLRNLK EPLLTFRLNR AFMEAAEITD EDNSIAAMYQ AVGELPQANR DTLAFLMIHL
481 QRVAQSPHTK MDVANLAKVF GPTIVAHAVP NPDPVTMLQD IKRQPKVVER LLSLPLEYWS
541 QFMMVEQENI DPLHVIENSN AFSTPQTPDI KVSLLGPVTT PEHQLLKTPS SSSLSQRVRS
601 TLTKNTPRFG SKSKSATNLG RQGNFFASPM LKLocalizationUniProt · AlphaFold · HPA
Whether an antibody against RACGAP1 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.
- Antibody reachability
- Cell surface
- Secreted
- No
- Transmembrane segments
- 0
- Mean surface accessibility (rSASA)
- 0.47
- Highest tissue expression
- 43 nTPM
Expression across tissuesHPA
Tissue
- testis: 43 nTPM
- thymus: 40 nTPM
- bone marrow: 37 nTPM
- tonsil: 28 nTPM
- lymph node: 22 nTPM
- esophagus: 20 nTPM
Single-cell type
- monocyte progenitors: 106 nCPM
- early primary spermatocytes: 90 nCPM
- erythrocyte progenitors: 76 nCPM
- neutrophil progenitors: 66 nCPM
- extravillous trophoblasts: 63 nCPM
- late primary spermatocytes: 53 nCPM
Immune cell
- basophil: 24 nTPM
- T-reg: 19 nTPM
- NK-cell: 11 nTPM
- memory CD8 T-cell: 9.2 nTPM
- memory B-cell: 8.3 nTPM
- memory CD4 T-cell: 7.9 nTPM
Brain region
- basal ganglia: 17 nTPM
- thalamus: 17 nTPM
- midbrain: 15 nTPM
- cerebellum: 15 nTPM
- white matter: 15 nTPM
- medulla oblongata: 14 nTPM
DiseaseUniProt · ClinVar · IEDB · PubMed
Four sources answering four different questions about RACGAP1.
Disease | AllUniProt
Conditions RACGAP1 is implicated in, by any mechanism.
- Anemia, congenital dyserythropoietic, 3B, autosomal recessive (CDAN3B) MIM:619789
Disease | GeneticClinVar
3 pathogenic / likely-pathogenic of 96 ClinVar records.
Conditions with pathogenic or likely-pathogenic variants.
- Anemia, congenital dyserythropoietic, type IIIb
- Anemia, congenital dyserythropoietic, type IIIb, autosomal recessive
Genetic constraint and essentialitygnomAD · DepMap
Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.
- gnomAD LOEUF (loss-of-function intolerance)
- 0.52
- gnomAD pLI
- 0
- gnomAD missense Z
- 2.01
- DepMap mean gene effect
- -1.48
- DepMap dependency class
- pan
Cancer expressionTCGA
Across TCGA tumor cohorts, this protein is over-expressed in roughly 6% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).
OntologyGO
Biological processes
- actomyosin contractile ring assembly
- erythrocyte differentiation
- mitotic cytokinesis
- mitotic spindle midzone assembly
- monoatomic ion transport
- neuroblast proliferation
- positive regulation of cytokinesis
- regulation of attachment of spindle microtubules to kinetochore
- regulation of embryonic development
- regulation of small GTPase mediated signal transduction
- Rho protein signal transduction
- spermatogenesis
- sulfate transmembrane transport
Molecular functions
- alpha-tubulin binding
- beta-tubulin binding
- gamma-tubulin binding
- GTPase activator activity
- microtubule binding
- phosphatidylinositol-3,4,5-trisphosphate binding
- protein kinase binding
- protein-macromolecule adaptor activity
- zinc ion binding
Cellular components
Protein domainsUniProt · Pfam · InterPro
KeywordsUniProt
- Acetylation
- Cell cycle
- Cell division
- Cell membrane
- Coiled coil
- Congenital dyserythropoietic anemia
- Cytoplasm
- Cytoplasmic vesicle
- Cytoskeleton
- Developmental protein
- Differentiation
- GTPase activation
- Hereditary hemolytic anemia
- Ion transport
- Isopeptide bond
- Lipid-binding
- Membrane
- Metal-binding
- Microtubule
- Nucleus
- Phosphoprotein
- Spermatogenesis
- Transport
- Ubl conjugation
- Zinc
- Zinc-finger
InteractionsUniProt · HPA
Protein binding partners of RACGAP1 in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.
Antibody and autoantibody relevanceSeroatlas analysis
Seroatlas reads RACGAP1 as an antibody target. Whether an autoantibody or antibody against RACGAP1 could matter depends on whether native RACGAP1 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.
RACGAP1 is annotated at the cell surface, where native RACGAP1 is exposed to circulating antibodies and is a prime autoantibody target that could block, deplete, or overstimulate it.
Annotation status
The present source text does not explicitly label RACGAP1 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.
Loading the interactive Seroatlas protein explorer...