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Aliases for RABGAP1 Gene
Aliases for RABGAP1 Gene
External Ids for RABGAP1 Gene
- HGNC: 17155
- Entrez Gene: 23637
- Ensembl: ENSG00000011454
- OMIM: 615882
- UniProtKB: Q9Y3P9
Previous GeneCards Identifiers for RABGAP1 Gene
- GC09P121079
- GC09P122782
- GC09P124743
- GC09P125703
- GC09P095318
Summaries for RABGAP1 Gene
GeneCards Summary for RABGAP1 Gene
RABGAP1 (RAB GTPase Activating Protein 1) is a Protein Coding gene. Diseases associated with RABGAP1 include Warburg Micro Syndrome and Warburg Micro Syndrome 1. Among its related pathways are TBC/RABGAPs and Vesicle-mediated transport. Gene Ontology (GO) annotations related to this gene include G protein-coupled receptor activity and Rab GTPase binding. An important paralog of this gene is RABGAP1L.
UniProtKB/Swiss-Prot Summary for RABGAP1 Gene
-
May act as a GTPase-activating protein of RAB6A. May play a role in microtubule nucleation by centrosome. May participate in a RAB6A-mediated pathway involved in the metaphase-anaphase transition.
Additional gene information for RABGAP1 Gene
- HGNC(17155)
- Entrez Gene(23637)
- Ensembl(ENSG00000011454)
- OMIM(615882)
- UniProtKB(Q9Y3P9)
- Open Targets Platform(ENSG00000011454)
- Search for RABGAP1 at DataMed
- Search for RABGAP1 at HumanCyc
No data available for Entrez Gene Summary , CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for RABGAP1 Gene
Genomics for RABGAP1 Gene
GeneHancer (GH) Regulatory Elements Pubs
Promoters and enhancers for RABGAP1 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association
Download GeneHancer data from 2017 publication |
Request up-to-date GeneHancer data (full dataset)
GeneHancers around RABGAP1 on the GeneHancer Hub at the UCSC Golden Path
Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for RABGAP1
- Top Transcription factor binding sites by QIAGEN in the RABGAP1 gene promoter:
-
- AP-2alpha
- AP-2alphaA
- CUTL1
- E47
- GATA-1
- Hand1
- HEN1
- HNF-3beta
- Pax-5
- SRY
Genomic Locations for RABGAP1 Gene
Genomic Locations for RABGAP1 Gene
- chr9:122,931,640-123,104,869
- (GRCh38/hg38)
- Size:
- 173,230 bases
- Orientation:
- Plus strand
- chr9:125,703,112-125,867,147
- (GRCh37/hg19)
- Size:
- 164,036 bases
- Orientation:
- Plus strand
Genomic View for RABGAP1 Gene
Genes around RABGAP1 on UCSC Golden Path with GeneCards custom track
- Cytogenetic band:
-
- 9q33.2-q33.3 by HGNC
- 9q33.2-q33.3 by Entrez Gene
- 9q33.2 by Ensembl
RABGAP1 Gene in genomic location: bands according to
Ensembl, locations according to GeneLoc
(and/or Entrez Gene and/or Ensembl if different)
Genomic Neighborhood
• Exon Structure
• Gene Density
RefSeq DNA sequence for RABGAP1 Gene
Proteins for RABGAP1 Gene
-
Protein details for RABGAP1 Gene (UniProtKB/Swiss-Prot)
- Protein Symbol:
- Q9Y3P9-RBGP1_HUMAN
- Recommended name:
- Rab GTPase-activating protein 1
- Protein Accession:
- Q9Y3P9
- B9A6L2
- Q05CW2
- Q6ZMY1
- Q9HA28
- Q9P0E2
- Q9UG67
Protein attributes for RABGAP1 Gene
- Size:
- 1069 amino acids
- Molecular mass:
- 121737 Da
- Quaternary structure:
-
- Interacts with RAB6A and tubulin gamma.
- SequenceCaution:
-
- Sequence=AAF28917.1; Type=Frameshift; Evidence={ECO:0000305}; Sequence=AAH20609.1; Type=Miscellaneous discrepancy; Note=Contaminating sequence. Potential poly-A sequence.; Evidence={ECO:0000305}; Sequence=AAH54492.1; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence={ECO:0000305}; Sequence=AK022408; Type=Miscellaneous discrepancy; Note=Intron retention.; Evidence={ECO:0000305}; Sequence=CAB40267.2; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence={ECO:0000305};
Protein Expression for RABGAP1 Gene
Post-translational modifications for RABGAP1 Gene
Other Protein References for RABGAP1 Gene
- ENSEMBL proteins:
- REFSEQ proteins:
Antibody Products
-
Custom Antibody ServicesOriGene Antibodies for RABGAP1
- Novus Biologicals Antibodies for RABGAP1
-
Abcam antibodies for RABGAP1
- Invitrogen Antibodies for RABGAP1 (AFLGC-RABGAP1)
-
Boster Bio Antibodies for RABGAP1
- Sino Biological Antibodies for RABGAP1
Protein Products
- Search Origene for Purified Proteins, MassSpec and Protein Over-expression Lysates for RABGAP1
- Origene Custom Protein Services for RABGAP1
- antibodies-online: Show 4 available RABGAP1 Proteins ranked by validation data
- Compare Top RABGAP1 Proteins
-
Quality Products:
-
Abcam proteins for RABGAP1
Assay Products
- antibodies-online: Show 4 available RABGAP1 Elisa Kits ranked by validation data
- Compare Top RABGAP1 Elisa Kits
-
Quality Products:
No data available for DME Specific Peptides for RABGAP1 Gene
Domains & Families for RABGAP1 Gene
Gene Families for RABGAP1 Gene
- Human Protein Atlas (HPA):
-
- Predicted intracellular proteins
- Predicted membrane proteins
Protein Domains for RABGAP1 Gene
- InterPro:
- Blocks:
-
- Phosphotyrosine interaction domain
- RabGAP/TBC domain
- ProtoNet:
Suggested Antigen Peptide Sequences for RABGAP1 Gene
- GenScript: Design optimal peptide antigens:
-
- cDNA FLJ53389, highly similar to Homo sapiens RAB GTPase activating protein 1 (RABGAP1), mRNA (B7Z2B4_HUMAN)
- TBC1 domain family, member 11 (B9A6L2_HUMAN)
- Rab6 GTPase-activating protein GAPCenA (RBGP1_HUMAN)
Graphical View of Domain Structure for InterPro Entry
Q9Y3P9UniProtKB/Swiss-Prot:
RBGP1_HUMAN :- The arginine and glutamine fingers are critical for the GTPase-activating mechanism, they pull out Rab's 'switch 2' glutamine and insert in Rab's active site.
- Domain:
-
- The arginine and glutamine fingers are critical for the GTPase-activating mechanism, they pull out Rab's 'switch 2' glutamine and insert in Rab's active site.
Function for RABGAP1 Gene
Molecular function for RABGAP1 Gene
- UniProtKB/Swiss-Prot Function:
- May act as a GTPase-activating protein of RAB6A. May play a role in microtubule nucleation by centrosome. May participate in a RAB6A-mediated pathway involved in the metaphase-anaphase transition.
Phenotypes From GWAS Catalog for RABGAP1 Gene
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0004930 | G protein-coupled receptor activity | IEA | -- |
| GO:0005096 | GTPase activator activity | IEA,IDA | 17562788 |
| GO:0005515 | protein binding | IPI | 20562859 |
| GO:0015631 | tubulin binding | TAS | 10202141 |
| GO:0017137 | Rab GTPase binding | IPI | 17562788 |
Phenotypes for RABGAP1 Gene
- MGI mutant phenotypes for RABGAP1:
- inferred from 1 alleles
- GenomeRNAi human phenotypes for RABGAP1:
Animal Models for RABGAP1 Gene
- MGI Knock Outs for RABGAP1:
-
- Rabgap1 Rabgap1<tm1b(EUCOMM)Hmgu>
Animal Model Products
- Taconic Biosciences: Generate A Custom CRISPR Mouse Model For Your Study
CRISPR Products
- Applied Biological Materials (abm): CRISPR Clones for RABGAP1 - Select products 50% OFF >
- * RABGAP1 CRISPR as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
-
OriGene CRISPR knockouts for RABGAP1
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for RABGAP1
-
Santa Cruz Biotechnology (SCBT) CRISPR for RABGAP1
miRNA for RABGAP1 Gene
- miRTarBase miRNAs that target RABGAP1
-
- hsa-miR-192-5p (MIRT004150)
- hsa-miR-9-5p (MIRT021450)
- hsa-miR-21-5p (MIRT030972)
- hsa-miR-93-3p (MIRT038856)
- hsa-miR-504-5p (MIRT041085)
- hsa-miR-92a-3p (MIRT048971)
- hsa-miR-519c-3p (MIRT244776)
- hsa-miR-519b-3p (MIRT244778)
- hsa-miR-519a-3p (MIRT244782)
- hsa-miR-541-5p (MIRT439830)
- hsa-miR-4668-5p (MIRT509075)
- hsa-miR-1277-5p (MIRT509076)
- hsa-miR-3924 (MIRT509077)
- hsa-miR-190a-3p (MIRT509078)
- hsa-miR-656-3p (MIRT509079)
- hsa-miR-5011-5p (MIRT509080)
- hsa-miR-4433b-5p (MIRT521463)
- hsa-miR-4286 (MIRT521464)
- hsa-miR-4301 (MIRT521465)
- hsa-miR-6790-5p (MIRT528310)
- hsa-miR-4758-5p (MIRT528311)
- hsa-miR-4658 (MIRT528312)
- hsa-miR-4765 (MIRT528313)
- hsa-miR-1238-5p (MIRT528314)
- hsa-miR-1236-5p (MIRT528315)
- hsa-miR-6776-3p (MIRT528316)
- mmu-miR-466l-5p (MIRT581466)
- mmu-miR-466k (MIRT581467)
- mmu-miR-466d-5p (MIRT581468)
- mmu-miR-466i-5p (MIRT581469)
- mmu-miR-466a-5p (MIRT581470)
- mmu-miR-1187 (MIRT581471)
- mmu-miR-1198-5p (MIRT581472)
- mmu-miR-466e-5p (MIRT581473)
- mmu-miR-466p-5p (MIRT581474)
- mmu-miR-511-3p (MIRT581475)
- mmu-miR-466o-3p (MIRT581476)
- mmu-miR-466m-3p (MIRT581477)
- mmu-miR-669m-3p (MIRT589151)
- mmu-miR-467f (MIRT589152)
- mmu-miR-466f-3p (MIRT589153)
- mmu-miR-329-3p (MIRT589154)
- mmu-miR-466i-3p (MIRT589155)
- mmu-miR-362-3p (MIRT589156)
- mmu-miR-669f-3p (MIRT589157)
- hsa-miR-4503 (MIRT635351)
- hsa-miR-6792-5p (MIRT635352)
- hsa-miR-8485 (MIRT635353)
- hsa-miR-3941 (MIRT679141)
- hsa-miR-603 (MIRT679142)
- hsa-miR-362-3p (MIRT679143)
- hsa-miR-329-3p (MIRT679144)
- hsa-miR-128-3p (MIRT762179)
- hsa-miR-216a-3p (MIRT763869)
- hsa-miR-224-5p (MIRT763967)
- hsa-miR-27a-3p (MIRT764324)
- hsa-miR-27b-3p (MIRT764330)
- hsa-miR-342-3p (MIRT765750)
- hsa-miR-3681-3p (MIRT766753)
- hsa-miR-500b-3p (MIRT772996)
- hsa-miR-6849-3p (MIRT780332)
- hsa-miR-6879-3p (MIRT780791)
- hsa-miR-1468-3p (MIRT783842)
- hsa-miR-3145-3p (MIRT784652)
- hsa-miR-548p (MIRT787570)
- hsa-miR-6083 (MIRT788002)
miRNA Products
Inhibitory RNA Products
- Origene shrna, sirna, and RNAi products in human, mouse, rat for RABGAP1
- Browse OriGene Inhibitory RNA Products For RABGAP1
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for RABGAP1
Clone Products
- Applied Biological Materials (abm): Clones for RABGAP1 - Select products 50% OFF >
- * RABGAP1 as ready-to-use vector or virus: ORF | Lenti- | Retro- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
- Sino Biological Human cDNA Clone for RABGAP1
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for RABGAP1
Cell Line Products
-
Horizon Cell Lines for RABGAP1
No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for RABGAP1 Gene
Localization for RABGAP1 Gene
Subcellular locations from UniProtKB/Swiss-Prot for RABGAP1 Gene
- Cytoplasm, cytosol. Cytoplasm, cytoskeleton, microtubule organizing center, centrosome. Note=Predominantly cytosolic but also associated with the centrosome. {ECO:0000269 PubMed:10202141}.
| Compartment | Confidence |
|---|---|
| cytosol | 5 |
| cytoskeleton | 4 |
| nucleus | 2 |
| plasma membrane | 1 |
| extracellular | 1 |
| mitochondrion | 1 |
| endoplasmic reticulum | 1 |
| endosome | 1 |
| lysosome | 1 |
| golgi apparatus | 1 |
| peroxisome | 0 |
- Cytosol (4)
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0005737 | cytoplasm | IEA | -- |
| GO:0005813 | centrosome | TAS | 10202141 |
| GO:0005815 | microtubule organizing center | IEA | -- |
| GO:0005829 | cytosol | TAS | -- |
| GO:0005856 | cytoskeleton | IEA | -- |
Pathways & Interactions for RABGAP1 Gene
| SuperPathway | Contained pathways | ||
|---|---|---|---|
| 1 | Vesicle-mediated transport | ||
| 2 | TBC/RABGAPs | ||
| 3 | Peptide ligand-binding receptors | ||
Pathways by source for RABGAP1 Gene
1 BioSystems pathway for RABGAP1 Gene
3 Reactome pathways for RABGAP1 Gene
Interacting Proteins for RABGAP1 Gene
Selected Interacting proteins:
Q9Y3P9-RBGP1_HUMAN
ENSP00000362751
for RABGAP1 Gene via
UniProtKB
MINT
STRING
IID
GPS-Prot Interaction Network for RABGAP1
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0006886 | intracellular protein transport | IBA | 21873635 |
| GO:0007049 | cell cycle | IEA | -- |
| GO:0007165 | signal transduction | IEA | -- |
| GO:0007186 | G protein-coupled receptor signaling pathway | IEA | -- |
| GO:0043087 | regulation of GTPase activity | IDA | 17562788 |
No data available for SIGNOR curated interactions for RABGAP1 Gene
Transcripts for RABGAP1 Gene
mRNA/cDNA for RABGAP1 Gene
- 1 REFSEQ mRNAs :
- 12 NCBI additional mRNA sequence :
- 13 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :
-
- ENST00000317419 2186 nts (view in UCSC)
- ENST00000373647 4986 nts (view in UCSC)
- ENST00000402311 543 nts (view in UCSC)
- ENST00000426918 996 nts (view in UCSC)
- ENST00000456584 3897 nts (view in UCSC)
CRISPR Products
- Applied Biological Materials (abm): CRISPR Clones for RABGAP1 - Select products 50% OFF >
- * RABGAP1 CRISPR as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
-
OriGene CRISPR knockouts for RABGAP1
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for RABGAP1
-
Santa Cruz Biotechnology (SCBT) CRISPR for RABGAP1
miRNA Products
Inhibitory RNA Products
- Origene shrna, sirna, and RNAi products in human, mouse, rat for RABGAP1
- Browse OriGene Inhibitory RNA Products For RABGAP1
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for RABGAP1
Clone Products
- Applied Biological Materials (abm): Clones for RABGAP1 - Select products 50% OFF >
- * RABGAP1 as ready-to-use vector or virus: ORF | Lenti- | Retro- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
- Sino Biological Human cDNA Clone for RABGAP1
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for RABGAP1
Relevant External Links for RABGAP1 Gene
- GeneLoc Exon Structure for
- RABGAP1
Expression for RABGAP1 Gene
This gene is overexpressed in Peripheral blood mononuclear cells (11.9) and Lymph node (6.2).
Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for RABGAP1 Gene
- Elite partner
Transcriptomic regulation report from SPP (The Signaling Pathways Project) for RABGAP1
SOURCE GeneReport for Unigene cluster for RABGAP1 Gene:
Hs.271341Evidence on tissue expression from TISSUES for RABGAP1 Gene
- Nervous system(4.5)
- Blood(4.4)
- Muscle(2.2)
- Kidney(2.1)
- Heart(2.1)
Primer Products
-
OriGene qPCR primer pairs for RABGAP1
-
OriGene qPCR primer pairs and template standards for RABGAP1
Gene Expression Assay Products
No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for RABGAP1 Gene
Orthologs for RABGAP1 Gene
This gene was present in the common ancestor of animals and fungi.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| Chimpanzee (Pan troglodytes) |
Mammalia | RABGAP1 30 31 |
|
OneToOne | |
| Platypus (Ornithorhynchus anatinus) |
Mammalia | -- 31 |
|
OneToMany | |
| -- 31 |
|
OneToMany | |||
| -- 31 |
|
OneToMany | |||
| Oppossum (Monodelphis domestica) |
Mammalia | RABGAP1 31 |
|
OneToOne | |
| Dog (Canis familiaris) |
Mammalia | RABGAP1 30 31 |
|
OneToOne | |
| Cow (Bos Taurus) |
Mammalia | RABGAP1 30 31 |
|
OneToOne | |
| Mouse (Mus musculus) |
Mammalia | Rabgap1 30 17 31 |
|
OneToOne | |
| Rat (Rattus norvegicus) |
Mammalia | Rabgap1 30 |
|
||
| Chicken (Gallus gallus) |
Aves | RABGAP1 30 31 |
|
OneToOne | |
| Lizard (Anolis carolinensis) |
Reptilia | RABGAP1 31 |
|
OneToOne | |
| Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | rabgap1 30 |
|
||
| Zebrafish (Danio rerio) |
Actinopterygii | RABGAP1 31 |
|
OneToOne | |
| LOC559632 30 |
|
||||
| Fruit Fly (Drosophila melanogaster) |
Insecta | GapcenA 30 |
|
||
| CG7112 31 |
|
OneToMany | |||
| African malaria mosquito (Anopheles gambiae) |
Insecta | AgaP_AGAP007332 30 |
|
||
| Worm (Caenorhabditis elegans) |
Secernentea | tbc-11 30 31 |
|
OneToMany | |
| Baker's yeast (Saccharomyces cerevisiae) |
Saccharomycetes | GYP5 33 |
|
|
|
| Sea Squirt (Ciona savignyi) |
Ascidiacea | -- 31 |
|
OneToMany |
- Species where no ortholog for RABGAP1 was found in the sources mined by GeneCards:
-
- A. gosspyii yeast (Eremothecium gossypii)
- Actinobacteria (Mycobacterium tuberculosis)
- African clawed frog (Xenopus laevis)
- Alicante grape (Vitis vinifera)
- Alpha proteobacteria (Wolbachia pipientis)
- Amoeba (Dictyostelium discoideum)
- Archea (Pyrococcus horikoshii)
- Barley (Hordeum vulgare)
- Beta proteobacteria (Neisseria meningitidis)
- Bread mold (Neurospora crassa)
- Chromalveolata (Phytophthora infestans)
- Common water flea (Daphnia pulex)
- Corn (Zea mays)
- E. coli (Escherichia coli)
- Filamentous fungi (Aspergillus nidulans)
- Firmicute Bacteria (Streptococcus pneumoniae)
- Fission Yeast (Schizosaccharomyces pombe)
- Green Algae (Chlamydomonas reinhardtii)
- Honey Bee (Apis mellifera)
- K. Lactis Yeast (Kluyveromyces lactis)
- Loblloly Pine (Pinus taeda)
- Malaria Parasite (Plasmodium falciparum)
- Medicago Trunc (Medicago Truncatula)
- Moss (Physcomitrella patens)
- Orangutan (Pongo pygmaeus)
- Pig (Sus scrofa)
- Rainbow Trout (Oncorhynchus mykiss)
- Rice (Oryza sativa)
- Rice Blast Fungus (Magnaporthe grisea)
- Schistosome Parasite (Schistosoma mansoni)
- Sea Anemone (Nematostella vectensis)
- Sea Vase (Ciona intestinalis)
- Sea Urchin (Strongylocentrotus purpuratus)
- Sorghum (Sorghum bicolor)
- Soybean (Glycine max)
- Stem Rust Fungus (Puccinia graminis)
- Sugarcane (Saccharum officinarum)
- Thale Cress (Arabidopsis thaliana)
- Tomato (Lycopersicon esculentum)
- Toxoplasmosis (Toxoplasma gondii)
- Trichoplax (Trichoplax adhaerens)
- Wheat (Triticum aestivum)
Evolution for RABGAP1 Gene
- ENSEMBL:
- Gene Tree for RABGAP1 (if available)
- TreeFam:
- Gene Tree for RABGAP1 (if available)
- Aminode:
- Evolutionary constrained regions (ECRs) for RABGAP1: view image
Paralogs for RABGAP1 Gene
Paralogs for RABGAP1 Gene
- RABGAP1L 5
- TBC1D2 5
- TBC1D2B 5
- TBC1D8 5
- TBC1D4 5
- TBC1D8B 5
- TBC1D1 5
- TBC1D9 5
- TBC1D9B 5
- EVI5L 5
- EVI5 5
- TBC1D10B 5
- TBC1D14 5
- USP6NL 5
- TBCK 5
- TBC1D15 5
- TBC1D12 5
- TBC1D10A 5
- TBC1D5 5
- TBC1D16 5
- TBC1D10C 5
- TBC1D17 5
- SGSM3 5
- SGSM2 5
- SGSM1 5
- GRTP1 5
- TBC1D3B 5
- TBC1D3I 5
- TBC1D3F 5
- TBC1D3G 5
- TBC1D3H 5
- ENSG00000248751 5
- TBC1D3K 5
- TBC1D3L 5
- TBC1D3D 5
- TBC1D3C 5
- TBC1D3E 5
- TBC1D3 5
- TBC1D25 5
- TBC1D22B 5
- TBC1D22A 5
- TBC1D30 5
- TBC1D26 5
- TBC1D13 5
- ENSG00000288591 5
- TBC1D28 5
- TBC1D21 5
(5) SIMAP similar genes for RABGAP1 Gene using alignment to 4 proteins:
- RBGP1_HUMAN
- B5MCD9_HUMAN
- B7Z2B4_HUMAN
- C9JGR5_HUMAN
Variants for RABGAP1 Gene
| Variant ID | Type | Subtype | PubMed ID |
|---|---|---|---|
| esv2659860 | CNV | deletion | 23128226 |
| esv3621686 | CNV | loss | 21293372 |
| nsv1110060 | CNV | deletion | 24896259 |
| nsv517807 | CNV | loss | 19592680 |
| nsv831717 | CNV | gain | 17160897 |
| nsv972805 | CNV | duplication | 23825009 |
Residual Variation Intolerance Score:
10.7% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score:
2.40;
42.46% of all genes are more intolerant (likely to be disease-causing)
Additional Variant Information for RABGAP1 Gene
- SNPedia medical, phenotypic, and genealogical associations of SNPs for
- RABGAP1
SNP Genotyping and Copy Number Assay Products
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for RABGAP1 Gene
Disorders for RABGAP1 Gene
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| warburg micro syndrome |
|
|
| warburg micro syndrome 1 |
|
|
| charcot-marie-tooth disease, type 4h |
|
|
| martsolf syndrome |
|
|
Search RABGAP1 in MalaCards
View complete list of genes associated with diseases
Additional Disease Information for RABGAP1
- Genetic Association Database
- (GAD)
- Human Genome Epidemiology Navigator
- (HuGE)
- ATLAS of Genetics and Cytogenetics in Oncology and Haematology
- Open Targets Platform
No data available for UniProtKB/Swiss-Prot and Genatlas for RABGAP1 Gene
Publications for RABGAP1 Gene
- Characterization of GAPCenA, a GTPase activating protein for Rab6, part of which associates with the centrosome. (PMID: 10202141) Cuif MH … Goud B (The EMBO journal 1999) 2 3 4
- Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose JE … Uhl GR (Molecular medicine (Cambridge, Mass.) 2010) 3 41
- Identification and characterization of a novel Tre-2/Bub2/Cdc16 (TBC) protein that possesses Rab3A-GAP activity. (PMID: 19077034) Ishibashi K … Fukuda M (Genes to cells : devoted to molecular & cellular mechanisms 2009) 3 4
- A role for the Rab6A' GTPase in the inactivation of the Mad2-spindle checkpoint. (PMID: 16395330) Miserey-Lenkei S … Goud B (The EMBO journal 2006) 4 23
- Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4
ExternalLinks
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Sources for RABGAP1 Gene
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