Reviewed,
UniProtKB/Swiss-Prot Q68EM7 (RHG17_HUMAN)
Last modified
November 25, 2008.
Version 41.
History...
Clusters with 100%,
90%,
50% identity |
Documents (3) |
Third-party data |
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Names and origin
| Protein names | Recommended name: Rho GTPase-activating protein 17 Alternative name(s): Rho-type GTPase-activating protein 17 RhoGAP interacting with CIP4 homologs protein 1 Short name=RICH-1 | ||||||
| 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 | 881 AA. |
| Sequence status | Complete. |
| Sequence processing | The displayed sequence is not processed. |
| Protein existence | Evidence at protein level. |
General annotation (Comments)
| Function | Rho GTPase-activating protein involved in the maintenance of tight junction by regulating the activity of CDC42, thereby playing a central role in apical polarity of epithelial cells. Specifically acts as a GTPase activator for the CDC42 GTPase by converting it to an inactive GDP-bound state. The complex formed with AMOT acts by regulating the uptake of polarity proteins at tight junctions, possibly by deciding whether tight junction transmembrane proteins are recycled back to the plasma membrane or sent elsewhere. Participates in the Ca(2+)-dependent regulation of exocytosis, possibly by catalyzing GTPase activity of Rho family proteins and by inducing the reorganization of the cortical actin filaments. Acts as a GTPase activitor in vitro for RAC1. |
| Subunit structure | Component of a complex whose core is composed of ARHGAP17, AMOT, MPP5/PALS1, INADL/PATJ and PARD3/PAR3. Interacts with SLC9A3R1, FNBP1, TRIP10, CAPZA (CAPZA1, CAPZA2 or CAPZA3), CAPZB, CD2AP and SH3KBP1/CIN85. |
| Subcellular location | Membrane; Peripheral membrane protein. Cytoplasm. Cell junction › tight junction. Note= Associates with membranes and concentrates at sites of cell-cell contact. |
| Tissue specificity | Ubiquitously expressed. Expressed at higher level in heart and placenta. |
| Domain | The BAR domain mediates the interaction with the coiled coil domain of AMOT, leading to its recruitment to tight junctions. |
| Sequence similarities | Contains 1 BAR domain. Contains 1 Rho-GAP domain. |
Ontologies
Keywords | |
|---|---|
| Cellular component | Cell junction Cytoplasm Membrane Tight junction |
| Coding sequence diversity | Alternative splicing |
| Domain | SH3-binding |
| Molecular function | GTPase activation |
| PTM | Phosphoprotein |
Gene Ontology (GO) | |
| Biological process | signal transduction Inferred from electronic annotation. Source: InterPro |
| Cellular component | cytoplasm Inferred from electronic annotation. Source: InterPro tight junctionInferred from electronic annotation. Source: UniProtKB-KW |
| Molecular function | GTPase activator activity Inferred from electronic annotation. Source: UniProtKB-KW SH3 domain bindingInferred from electronic annotation. Source: UniProtKB-KW |
| Complete GO annotation... | |
Alternative products
| This entry describes 7 isoforms produced by alternative splicing. [Align] [Select] | ||||||
| Isoform 1 (identifier: Q68EM7-1) 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: Q68EM7-2) The sequence of this isoform differs from the canonical sequence as follows: 497-574: Missing. | ||||||
| Isoform 3 (identifier: Q68EM7-3) The sequence of this isoform differs from the canonical sequence as follows: 1-273: Missing. | ||||||
| Notes: No experimental confirmation available. | ||||||
| Isoform 4 (identifier: Q68EM7-4) Also known as: RICH1B; The sequence of this isoform differs from the canonical sequence as follows: 215-226: LLEAQADYHRKA → ISGRKNQPLGLP 227-881: Missing. | ||||||
| Isoform 5 (identifier: Q68EM7-5) The sequence of this isoform differs from the canonical sequence as follows: 839-881: DSNSRVSEPHRSIFPEMHSDSASKDVPGRILLDIDNDTESTAL → GFQNRIAASFLKCTQTQPAKTCLAASCWI | ||||||
| Notes: No experimental confirmation available. | ||||||
| Isoform 6 (identifier: Q68EM7-6) The sequence of this isoform differs from the canonical sequence as follows: 840-881: SNSRVSEPHRSIFPEMHSDSASKDVPGRILLDIDNDTESTAL → V | ||||||
| Isoform 7 (identifier: Q68EM7-7) The sequence of this isoform differs from the canonical sequence as follows: 1-467: Missing. 468-496: TGNDSDSGTLERKRPASMAVMEGDLVKKE → MCGFNTCGPMGFCLSSLLAWCVDCFFSLC | ||||||
| Notes: No experimental confirmation available. |
Sequence annotation (Features)
| Feature key | Position(s) | Length | Description | Graphical view | Feature identifier | ||||
Molecule processing | |||||||||
|---|---|---|---|---|---|---|---|---|---|
| Chain | 1 – 881 | 881 | Rho GTPase-activating protein 17 | PRO_0000280462 | |||||
Regions | |||||||||
| Domain | 14 – 246 | 233 | BAR | ||||||
| Domain | 252 – 442 | 191 | Rho-GAP | ||||||
| Motif | 753 – 766 | 14 | SH3-binding Potential | ||||||
| Compositional bias | 521 – 816 | 296 | Pro-rich | ||||||
Amino acid modifications | |||||||||
| Modified residue | 161 | 1 | Phosphoserine By similarity | ||||||
| Modified residue | 575 | 1 | Phosphoserine | ||||||
Natural variations | |||||||||
| Alternative sequence | 1 – 467 | 467 | Missing in isoform 7. | VSP_023682 | |||||
| Alternative sequence | 1 – 273 | 273 | Missing in isoform 3. | VSP_023683 | |||||
| Alternative sequence | 215 – 226 | 12 | LLEAQ…YHRKA → ISGRKNQPLGLP in isoform 4. | VSP_023684 | |||||
| Alternative sequence | 227 – 881 | 655 | Missing in isoform 4. | VSP_023685 | |||||
| Alternative sequence | 468 – 496 | 29 | TGNDS…LVKKE → MCGFNTCGPMGFCLSSLLAW CVDCFFSLC in isoform 7. | VSP_023686 | |||||
| Alternative sequence | 497 – 574 | 78 | Missing in isoform 2. | VSP_023687 | |||||
| Alternative sequence | 839 – 881 | 43 | DSNSR…ESTAL → GFQNRIAASFLKCTQTQPAK TCLAASCWI in isoform 5. | VSP_023688 | |||||
| Alternative sequence | 840 – 881 | 42 | SNSRV…ESTAL → V in isoform 6. | VSP_023689 | |||||
Experimental info | |||||||||
| Mutagenesis | 288 | 1 | R → A: Loss of function; leading to defects in tight junction maintenance | ||||||
| Sequence conflict | 139 | 1 | K → E in BAB55203. Ref.2 | ||||||
| Sequence conflict | 167 | 1 | Q → R in CAC37948. Ref.1 | ||||||
| Sequence conflict | 186 | 1 | K → R in CAC37948. Ref.1 | ||||||
| Sequence conflict | 255 | 1 | E → A in BAB14506. Ref.2 | ||||||
| Sequence conflict | 404 | 1 | G → A in BAB55203. Ref.2 | ||||||
| Sequence conflict | 575 | 1 | S → C in BAC86144. Ref.2 | ||||||
| Sequence conflict | 855 | 1 | M → V in BAB55203. Ref.2 | ||||||
Sequences
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References
| « Hide 'large scale' references | |
| [1] | "Rich, a rho GTPase-activating protein domain-containing protein involved in signaling by Cdc42 and Rac1." Richnau N., Aspenstroem P. J. Biol. Chem. 276:35060-35070(2001) [PubMed: 11431473] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORMS 2 AND 4), FUNCTION, SUBCELLULAR LOCATION, TISSUE SPECIFICITY, INTERACTION WITH FNBP1 AND TRIP10, MUTAGENESIS OF ARG-288. |
| [2] | "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] (ISOFORMS 2 AND 3), NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 634-881 (ISOFORM 5). Tissue: Teratocarcinoma. |
| [3] | The German cDNA consortium Submitted (JUL-2002) to the EMBL/GenBank/DDBJ databases Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 7). Tissue: Brain. |
| [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 1), NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 714-881 (ISOFORM 6). Tissue: Cervix and Eye. |
| [5] | Liu Y.Q., Zhao B., Xu Y.Y., Wang X.Y., Liu B., Ye J., Song L., Gao Y., Zhang C.L., Zhang J., Gao R.L., Wu Q.Y., Hui R.T. Submitted (JUN-1999) to the EMBL/GenBank/DDBJ databases Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 708-881. Tissue: Aorta. |
| [6] | "Identification of EPI64, a TBC/rabGAP domain-containing microvillar protein that binds to the first PDZ domain of EBP50 and E3KARP." Reczek D., Bretscher A. J. Cell Biol. 153:191-206(2001) [PubMed: 11285285] [Abstract] Cited for: INTERACTION WITH SLC9A3R1. |
| [7] | "A Rich1/Amot complex regulates the Cdc42 GTPase and apical-polarity proteins in epithelial cells." Wells C.D., Fawcett J.P., Traweger A., Yamanaka Y., Goudreault M., Elder K., Kulkarni S., Gish G., Virag C., Lim C., Colwill K., Starostine A., Metalnikov P., Pawson T. Cell 125:535-548(2006) [PubMed: 16678097] [Abstract] Cited for: FUNCTION, SUBCELLULAR LOCATION, DOMAIN BAR, INTERACTION WITH AMOT; MPP5; INADL; PARD3; CAPZA; CAPZB; CD2AP AND SH3KBP1. |
| [8] | "A quantitative atlas of mitotic phosphorylation." Dephoure N., Zhou C., Villen J., Beausoleil S.A., Bakalarski C.E., Elledge S.J., Gygi S.P. Proc. Natl. Acad. Sci. U.S.A. 105:10762-10767(2008) [PubMed: 18669648] [Abstract] Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-575, MASS SPECTROMETRY. |
Cross-references
Sequence databases | |
|---|---|
| AJ306731 mRNA. Translation: CAC37948.1. AJ306732 mRNA. Translation: CAC37949.1. AK001170 mRNA. Translation: BAA91532.1. Different initiation. AK023281 mRNA. Translation: BAB14506.1. AK027567 mRNA. Translation: BAB55203.1. AK125358 mRNA. Translation: BAC86144.1. AL833975 mRNA. Translation: CAD38819.1. BC001241 mRNA. Translation: AAH01241.1. Different initiation. BC080195 mRNA. Translation: AAH80195.1. AF163257 mRNA. Translation: AAQ13586.1. Different initiation. AF173885 mRNA. Translation: AAQ13632.1. Different initiation. | |
| PIR | F59433. |
| RefSeq | NP_001006635.1. NP_060524.4. |
| UniGene | Hs.373793 |
3D structure databases | |
| ModBase | Search... |
PTM databases | |
| PhosphoSite | Q68EM7. |
Genome annotation databases | |
| Ensembl | ENSG00000140750. Homo sapiens. [Contig view] |
| GeneID | 55114. |
| KEGG | hsa:55114. |
Organism-specific databases | |
| HGNC | HGNC:18239. ARHGAP17. |
| MIM | 608293. gene. |
| PharmGKB | PA134908575. |
| GenAtlas | Search... |
| GeneCards | Search... |
Phylogenomic databases | |
| HOVERGEN | Q68EM7. |
Enzyme and pathway databases | |
| Reactome | REACT_11044. Signaling by Rho GTPases. |
Gene expression databases | |
| ArrayExpress | Q68EM7. |
Family and domain databases | |
| InterPro | IPR004148. BAR. IPR000198. RhoGAP. [Graphical view] |
| Gene3D | G3DSA:1.10.555.10. RhoGAP. 1 hit. |
| Pfam | PF03114. BAR. 1 hit. PF00620. RhoGAP. 1 hit. [Graphical vie |

Clusters with