Q9P2F6 (RHG20_HUMAN) Reviewed, UniProtKB/Swiss-Prot
Last modified
May 1, 2013.
Version 90.
History...
Names·Attributes·General annotation·Ontologies·Alt products·Sequence annotation·Sequences·References·Web links·Cross-refs·Entry info·DocumentsCustomize order
Names·Attributes·General annotation·Ontologies·Alt products·Sequence annotation·Sequences·References·Web links·Cross-refs·Entry info·DocumentsCustomize orderNames and origin
| Protein names | Recommended name: Rho GTPase-activating protein 20 Alternative name(s): Rho-type GTPase-activating protein 20 | ||||
| Gene names |
| ||||
| Organism | Homo sapiens (Human) [Reference proteome] | ||||
| 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. |
| Protein existence | Evidence at protein 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. |
| Sequence caution | The sequence AAH39340.1 differs from that shown. Reason: Erroneous initiation. Translation N-terminally shortened. The sequence AAH39340.1 differs from that shown. Reason: Probable cloning artifact. The sequence BAA92629.1 differs from that shown. Reason: Erroneous initiation. Translation N-terminally shortened. The sequence BAF84979.1 differs from that shown. Reason: Erroneous initiation. Translation N-terminally shortened. The sequence BAF84979.1 differs from that shown. Reason: Probable cloning artifact. |
Ontologies
| Keywords | |
|---|---|
| Coding sequence diversity | Alternative splicing Chromosomal rearrangement Polymorphism |
| Disease | Tumor suppressor |
| Molecular function | GTPase activation |
| Technical term | 3D-structure Complete proteome Reference proteome |
| Gene Ontology (GO) | |
| Biological_process | positive regulation of GTPase activity Inferred from electronic annotation. Source: GOC regulation of small GTPase mediated signal transductionTraceable author statement. Source: Reactome small GTPase mediated signal transductionTraceable author statement. Source: Reactome |
| Cellular_component | cytosol Traceable author statement. Source: Reactome |
| Molecular_function | GTPase activator activity Inferred from electronic annotation. Source: UniProtKB-KW phospholipid bindingInferred from electronic annotation. Source: InterPro |
| Complete GO annotation... | |
Alternative products
| This entry describes 4 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. |
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 – 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 | |||||||||||||||||||||||||||||||||
| Natural variant | 522 | 1 | A → T. Corresponds to variant rs7936020 [ dbSNP | Ensembl ]. | VAR_031489 | |||||||||||||||||||||||||||||||||
| Natural variant | 632 | 1 | G → D. Ref.6 Corresponds to variant rs17853925 [ dbSNP | Ensembl ]. | VAR_031490 | |||||||||||||||||||||||||||||||||
Secondary structure | |||||||||||||||||||||||||||||||||||||
Helix Strand Turn | |||||||||||||||||||||||||||||||||||||
| Helix | 367 – 370 | 4 | |||||||||||||||||||||||||||||||||||
| Helix | 372 – 374 | 3 | |||||||||||||||||||||||||||||||||||
| Helix | 378 – 390 | 13 | |||||||||||||||||||||||||||||||||||
| Helix | 391 – 393 | 3 | |||||||||||||||||||||||||||||||||||
| Turn | 395 – 399 | 5 | |||||||||||||||||||||||||||||||||||
| Helix | 404 – 415 | 12 | |||||||||||||||||||||||||||||||||||
| Helix | 427 – 439 | 13 | |||||||||||||||||||||||||||||||||||
| Turn | 442 – 447 | 6 | |||||||||||||||||||||||||||||||||||
| Helix | 448 – 450 | 3 | |||||||||||||||||||||||||||||||||||
| Helix | 451 – 456 | 6 | |||||||||||||||||||||||||||||||||||
| Helix | 457 – 459 | 3 | |||||||||||||||||||||||||||||||||||
| Beta strand | 460 – 462 | 3 | |||||||||||||||||||||||||||||||||||
| Helix | 463 – 474 | 12 | |||||||||||||||||||||||||||||||||||
| Helix | 479 – 496 | 18 | |||||||||||||||||||||||||||||||||||
| Helix | 499 – 502 | 4 | |||||||||||||||||||||||||||||||||||
| Helix | 506 – 517 | 12 | |||||||||||||||||||||||||||||||||||
| Helix | 526 – 550 | 25 | |||||||||||||||||||||||||||||||||||
Sequences
| ||||||||||||||||||||||||||||||||||||
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] [Europe PMC] [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] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA]. Tissue: Brain. |
| [3] | NHLBI resequencing and genotyping service (RS&G) Submitted (FEB-2007) to the EMBL/GenBank/DDBJ databases Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA]. |
| [4] | Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L., Mobarry C.M., Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R., Flanigan M.J., Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V., Hannenhalli S., Turner R. Venter J.C.Submitted (JUL-2005) to the EMBL/GenBank/DDBJ databases Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA]. |
| [5] | "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] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 436-1185 (ISOFORMS 1/2/3/4). Tissue: Testis. |
| [6] | "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] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 436-1185 (ISOFORMS 1/2/3/4), VARIANT ASP-632. Tissue: Testis. |
| [7] | "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] [Europe PMC] [Abstract] Cited for: IDENTIFICATION. |
| + | Additional computationally mapped references. |
Cross-references
Sequence databases | |||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| EMBL GenBank DDBJ | 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. EF444953 Genomic DNA. Translation: ACA05945.1. EF444953 Genomic DNA. Translation: ACA05946.1. CH471065 Genomic DNA. Translation: EAW67134.1. AK292290 mRNA. Translation: BAF84979.1. Sequence problems. BC039340 mRNA. Translation: AAH39340.1. Sequence problems. | ||||||||||||
| IPI | IPI00012622. IPI00478558. IPI00844252. IPI00844419. IPI00844483. | ||||||||||||
| PIR | C59436. | ||||||||||||
| RefSeq | NP_001245344.1. NM_001258415.1. NP_001245345.1. NM_001258416.1. NP_001245346.1. NM_001258417.1. NP_001245347.1. NM_001258418.1. NP_065860.2. NM_020809.3. | ||||||||||||
| UniGene | Hs.6136. | ||||||||||||
3D structure databases | |||||||||||||
| PDBe RCSB PDB PDBj |
| ||||||||||||
| ProteinModelPortal | Q9P2F6. | ||||||||||||
| ModBase | Search... | ||||||||||||
Protein-protein interaction databases | |||||||||||||
| IntAct | Q9P2F6. 1 interaction. | ||||||||||||
PTM databases | |||||||||||||
| PhosphoSite | Q9P2F6. | ||||||||||||
Polymorphism databases | |||||||||||||
| DMDM | 143458429. | ||||||||||||
Proteomic databases | |||||||||||||
| PaxDb | Q9P2F6. | ||||||||||||
| PRIDE | Q9P2F6. | ||||||||||||
Protocols and materials databases | |||||||||||||
| DNASU | 57569. | ||||||||||||
| StructuralBiologyKnowledgebase | Search... | ||||||||||||
Genome annotation databases | |||||||||||||
| Ensembl | ENST00000260283; ENSP00000260283; ENSG00000137727. ENST00000357139; ENSP00000349660; ENSG00000137727. ENST00000524756; ENSP00000432076; ENSG00000137727. ENST00000527598; ENSP00000431399; ENSG00000137727. ENST00000528829; ENSP00000436319; ENSG00000137727. ENST00000529591; ENSP00000437905; ENSG00000137727. ENST00000533353; ENSP00000436522; ENSG00000137727. | ||||||||||||
| GeneID | 57569. | ||||||||||||
| KEGG | hsa:57569. | ||||||||||||
| UCSC | uc001pky.1. human. uc001pkz.1. human. uc001plb.2. human. | ||||||||||||
Organism-specific databases | |||||||||||||
| CTD | 57569. | ||||||||||||
| GeneCards | GC11M110447. | ||||||||||||
| H-InvDB | HIX0010100. | ||||||||||||
| HGNC | HGNC:18357. ARHGAP20. | ||||||||||||
| HPA | HPA038458. | ||||||||||||
| MIM | 609568. gene. | ||||||||||||
| neXtProt | NX_Q9P2F6. | ||||||||||||
| PharmGKB | PA134963885. | ||||||||||||
| HUGE | Search... | ||||||||||||
| GenAtlas | Search... | ||||||||||||
Phylogenomic databases | |||||||||||||
| eggNOG | NOG271519. | ||||||||||||
| HOVERGEN | HBG061748. | ||||||||||||
| InParanoid | Q9P2F6. | ||||||||||||
| OMA | INQSLVM. | ||||||||||||
Enzyme and pathway databases | |||||||||||||
| Reactome | REACT_111102. Signal Transduction. | ||||||||||||
Gene expression databases | |||||||||||||
| Bgee | Q9P2F6. | ||||||||||||
| CleanEx | HS_ARHGAP20. | ||||||||||||
| Genevestigator | Q9P2F6. | ||||||||||||
Family and domain databases | |||||||||||||
| Gene3D | 1.10.555.10. 1 hit. 2.30.29.30. 1 hit. | ||||||||||||
| InterPro | IPR011993. PH_like_dom. IPR001849. Pleckstrin_homology. IPR000159. Ras-assoc. IPR008936. Rho_GTPase_activation_prot. IPR000198. RhoGAP_dom. [Graphical view] | ||||||||||||
| Pfam | PF00788. RA. 1 hit. PF00620. RhoGAP. 1 hit. [Graphical view] | ||||||||||||
| SMART | SM00233. PH. 1 hit. SM00324. RhoGAP. 1 hit. [Graphical view] | ||||||||||||
| SUPFAM | SSF48350. Rho_GAP. 1 hit. | ||||||||||||
| PROSITE | PS50003. PH_DOMAIN. False negative. PS50200. RA. 1 hit. PS50238. RHOGAP. 1 hit. [Graphical view] | ||||||||||||
| ProtoNet | Search... | ||||||||||||
Other | |||||||||||||
| EvolutionaryTrace | Q9P2F6. | ||||||||||||
| GenomeRNAi | 57569. | ||||||||||||
| NextBio | 64086. | ||||||||||||
| SOURCE | Search... | ||||||||||||
Entry information
| Entry name | RHG20_HUMAN | ||||||||
| Accession | Primary (citable) accession number: Q9P2F6 Secondary accession number(s): A8K8C5 Q8IXS1 | ||||||||
| Entry history |
| ||||||||
| Entry status | Reviewed (UniProtKB/Swiss-Prot) | ||||||||
| Annotation program | Chordata Protein Annotation Program | ||||||||
| Disclaimer | Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care. | ||||||||
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 |
| PDB cross-references Index of Protein Data Bank (PDB) cross-references |
| SIMILARITY comments Index of protein domains and families |

Clusters with
