Reviewed,
UniProtKB/Swiss-Prot Q9P2F6 (RHG20_HUMAN)
Last modified
June 16, 2009.
Version 52.
History...
Clusters with 100%,
90%,
50% identity |
Documents (5) |
Third-party data |
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Names and origin
| Protein names | Recommended name: Rho GTPase-activating protein 20 Alternative name(s): Rho-type GTPase-activating protein 20 | ||||
| Gene names |
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| Organism | Homo sapiens (Human) | ||||
| Taxonomic identifier | 9606 [NCBI] | ||||
| Taxonomic lineage | Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo |
Protein attributes
| Sequence length | 1191 AA. |
| Sequence status | Complete. |
| Sequence processing | The displayed sequence is not processed. |
| Protein existence | Evidence at transcript level. |
General annotation (Comments)
| Function | GTPase activator for the Rho-type GTPases by converting them to an inactive GDP-bound state By similarity. |
| Tissue specificity | Expressed predominantly in the brain. Lower expression is found in lymph nodes. Ref.1 |
| Developmental stage | Low expression is found in fetal liver. Ref.1 |
| Involvement in disease | A chromosomal aberration involving ARHGAP20 may be a cause of B-cell chronic lymphocytic leukemia (B-CLL). Translocation t(X;11)(q21;q23) with BRWD3 does not result in fusion transcripts but disrupts both genes. |
| Sequence similarities | Contains 1 PH domain. Contains 1 Ras-associating domain. Contains 1 Rho-GAP domain. |
| Caution | The translocation involving this gene was originally published as t(X;11)(q13;23) (Ref.1), but BRWD3 is localized to Xq21 and not to Xq13. |
Ontologies
| Keywords | |
|---|---|
| Biological process | Cell cycle |
| Coding sequence diversity | Alternative splicing Chromosomal rearrangement Polymorphism |
| Molecular function | Anti-oncogene GTPase activation |
| Gene Ontology (GO) | |
| Biological process | cell cycle Inferred from electronic annotation. Source: UniProtKB-KW negative regulation of cell cycleInferred from electronic annotation. Source: UniProtKB-KW signal transductionInferred from electronic annotation. Source: InterPro |
| Cellular component | intracellular Inferred from electronic annotation. Source: InterPro |
| Molecular function | GTPase activator activity Inferred from electronic annotation. Source: UniProtKB-KW |
| Complete GO annotation... | |
Alternative products
| This entry describes 5 isoforms produced by alternative splicing. [Align] [Select] | ||||||
| Isoform 1 (identifier: Q9P2F6-1) Also known as: 1ad; This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry. | ||||||
| Isoform 2 (identifier: Q9P2F6-2) Also known as: 1be; The sequence of this isoform differs from the canonical sequence as follows: 1-34: MEAMSPQQETLGGQPGRSSSLTGVSRLAGGSCTK → MTFWIIIN | ||||||
| Isoform 3 (identifier: Q9P2F6-3) Also known as: 1c; The sequence of this isoform differs from the canonical sequence as follows: 1-33: MEAMSPQQETLGGQPGRSSSLTGVSRLAGGSCT → MSARERQPAL | ||||||
| Isoform 4 (identifier: Q9P2F6-4) Also known as: 1e; 1d; The sequence of this isoform differs from the canonical sequence as follows: 1-36: Missing. | ||||||
| Isoform 5 (identifier: Q9P2F6-5) The sequence of this isoform differs from the canonical sequence as follows: 1-457: Missing. 1186-1188: YLT → NCC 1189-1191: Missing. | ||||||
| Note: No experimental confirmation available. |
Sequence annotation (Features)
| Feature key | Position(s) | Length | Description | Graphical view | Feature identifier | ||||
Molecule processing | |||||||||
|---|---|---|---|---|---|---|---|---|---|
| Chain | 1 – 1191 | 1191 | Rho GTPase-activating protein 20 | PRO_0000283086 | |||||
Regions | |||||||||
| Domain | 78 – 180 | 103 | PH | ||||||
| Domain | 194 – 295 | 102 | Ras-associating | ||||||
| Domain | 365 – 551 | 187 | Rho-GAP | ||||||
| Compositional bias | 934 – 973 | 40 | Ser-rich | ||||||
Natural variations | |||||||||
| Alternative sequence | 1 – 457 | 457 | Missing in isoform 5. | VSP_024297 | |||||
| Alternative sequence | 1 – 36 | 36 | Missing in isoform 4. | VSP_024296 | |||||
| Alternative sequence | 1 – 34 | 34 | MEAMS…GSCTK → MTFWIIIN in isoform 2. | VSP_024294 | |||||
| Alternative sequence | 1 – 33 | 33 | MEAMS…GGSCT → MSARERQPAL in isoform 3. | VSP_024295 | |||||
| Alternative sequence | 1186 – 1188 | 3 | YLT → NCC in isoform 5. | VSP_024298 | |||||
| Alternative sequence | 1189 – 1191 | 3 | Missing in isoform 5. | VSP_024299 | |||||
| Natural variant | 522 | 1 | A → T: dbSNP rs7936020. | VAR_031489 | |||||
| Natural variant | 632 | 1 | G → D: dbSNP rs17853925. Ref.4 | VAR_031490 | |||||
Sequences
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References
| « Hide 'large scale' references | |
| [1] | "Translocation t(X;11)(q13;q23) in B-cell chronic lymphocytic leukemia disrupts two novel genes." Kalla C., Nentwich H., Schlotter M., Mertens D., Wildenberger K., Doehner H., Stilgenbauer S., Lichter P. Genes Chromosomes Cancer 42:128-143(2005) [PubMed: 15543602] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORMS 1; 2; 3 AND 4), TISSUE SPECIFICITY, DEVELOPMENTAL STAGE, CHROMOSOMAL TRANSLOCATION WITH BRWD3. |
| [2] | "Prediction of the coding sequences of unidentified human genes. XVI. The complete sequences of 150 new cDNA clones from brain which code for large proteins in vitro." Nagase T., Kikuno R., Ishikawa K., Hirosawa M., Ohara O. DNA Res. 7:65-73(2000) [PubMed: 10718198] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA]. Tissue: Brain. |
| [3] | "Complete sequencing and characterization of 21,243 full-length human cDNAs." Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S. Sugano S.Nat. Genet. 36:40-45(2004) [PubMed: 14702039] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 5). Tissue: Testis. |
| [4] | "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)." The MGC Project Team Genome Res. 14:2121-2127(2004) [PubMed: 15489334] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 5), VARIANT ASP-632. Tissue: Testis. |
| [5] | "Identification and characterization of human KIAA1391 and mouse Kiaa1391 genes encoding novel RhoGAP family proteins with RA domain and ANXL repeats." Katoh M., Katoh M. Int. J. Oncol. 23:1471-1476(2003) [PubMed: 14532992] [Abstract] Cited for: IDENTIFICATION. |
| + | Additional computationally mapped references. |
Cross-references
Sequence databases | |
|---|---|
| AY496263 mRNA. Translation: AAS45466.1. AY496264 mRNA. Translation: AAS45467.1. AY496265 mRNA. Translation: AAS45468.1. AY496266 mRNA. Translation: AAS45469.1. AY496267 mRNA. Translation: AAS45470.1. AB037812 mRNA. Translation: BAA92629.1. Different initiation. AK292290 mRNA. Translation: BAF84979.1. BC039340 mRNA. Translation: AAH39340.1. | |
| IPI | IPI00012622. IPI00478558. IPI00844252. IPI00844419. IPI00844483. |
| PIR | C59436. |
| RefSeq | NP_065860.2. |
| UniGene | Hs.6136 |
3D structure databases | |
| HSSP | HSSP built from PDB template 1RGP based on UniProtKB Q07960. |
| ModBase | Search... |
Proteomic databases | |
| PRIDE | Q9P2F6. |
Genome annotation databases | |
| Ensembl | ENSG00000137727. Homo sapiens. [Contig view] |
| GeneID | 57569. |
| KEGG | hsa:57569. |
Organism-specific databases | |
| GeneCards | GC11M109952. |
| HGNC | HGNC:18357. ARHGAP20. |
| MIM | 609568. gene. |
| PharmGKB | PA134963885. |
| HUGE | Search... |
| GenAtlas | Search... |
Phylogenomic databases | |
| HOVERGEN | Q9P2F6. |
| OMA | Q9P2F6. QISEHSV. |
Enzyme and pathway databases | |
| Reactome | REACT_11044. Signaling by Rho GTPases. |
Gene expression databases | |
| ArrayExpress | Q9P2F6. |
| Bgee | Q9P2F6. |
| CleanEx | HS_ARHGAP20. |
Family and domain databases | |
| InterPro | IPR011993. PH_type. IPR001849. Pleckstrin_homology. IPR000159. Ras-assoc. IPR000198. RhoGAP. [Graphical view] |
| Gene3D | G3DSA:2.30.29.30. PH_type. 1 hit. G3DSA:1.10.555.10. RhoGAP. 1 hit. |
| Pfam | PF00788. RA. 1 hit. PF00620. RhoGAP. 1 hit. [Graphical view] |
| SMART | SM00233. PH. 1 hit. SM00324. RhoGAP. 1 hit. [Graphical view] |
| PROSITE | PS50003. PH_DOMAIN. False negative. PS50200. RA. 1 hit. PS50238. RHOGAP. 1 hit. [Graphical view] |
| ProtoNet | Search... |
Other Resources | |
| NextBio | 64086. |
| SOURCE | Search... |
Entry information
| Entry name | RHG20_HUMAN | ||||||||
| Accession | Primary (citable) accession number: Q9P2F6 Secondary accession number(s): A8K8C5 Q8IXS1 | ||||||||
| Entry history |
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| Entry status | Reviewed (UniProtKB/Swiss-Prot) | ||||||||
| Annotation project | HPI (Human Proteome Initiative) | ||||||||
Relevant documents
| Human chromosome 11 Human chromosome 11: entries, gene names and cross-references to MIM |
| Human entries with polymorphisms or disease mutations List of human entries with polymorphisms or disease mutations |
| Human polymorphisms and disease mutations Index of human polymorphisms and disease mutations |
| MIM cross-references Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot |
| SIMILARITY comments Index of protein domains and families |

Clusters with


