Q6ZSZ5 (ARHGI_HUMAN) Reviewed, UniProtKB/Swiss-Prot
Last modified
May 1, 2013.
Version 86.
History...
Names·Attributes·General annotation·Ontologies·Alt products·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order
Names·Attributes·General annotation·Ontologies·Alt products·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize orderNames and origin
| Protein names | Recommended name: Rho guanine nucleotide exchange factor 18 Alternative name(s): 114 kDa Rho-specific guanine nucleotide exchange factor Short name=p114-Rho-GEF Short name=p114RhoGEF Septin-associated RhoGEF Short name=SA-RhoGEF | ||||
| 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 | 1173 AA. |
| Sequence status | Complete. |
| Protein existence | Evidence at protein level |
General annotation (Comments)
| Function | Acts as guanine nucleotide exchange factor (GEF) for RhoA GTPases. May play a role in actin cytoskeleton reorganization in different tissues since its activation induces formation of actin stress fibers. Also act as a GEF for RAC1, inducing production of reactive oxygen species (ROS). Does not act as a GEF for CDC42. The G protein beta-gamma (Gbetagamma) subunits of heterotrimeric G proteins act as activators, explaining the integrated effects of LPA and other G-protein coupled receptor agonists on actin stress fiber formation, cell shape change and ROS production. Ref.5 Ref.7 Ref.8 |
| Subunit structure | Interacts with SEPT9; interaction may inhibit GEF activity. Interacts with Gbetagamma subunits GNB1 and GNG2. Ref.7 Ref.8 |
| Subcellular location | Cytoplasm. Note: Colocalizes with actin stress fibers. Ref.8 |
| Tissue specificity | Expressed in all tissues tested with highest expression in kidney and pancreas. Weakly or not expressed in liver, skeletal muscle and testis. Ref.5 Ref.7 Ref.8 |
| Sequence similarities | Contains 1 DH (DBL-homology) domain. Contains 1 PH domain. |
| Sequence caution | The sequence AAH77721.1 differs from that shown. Reason: Aberrant splicing. The sequence BAA25447.1 differs from that shown. Reason: Erroneous initiation. Translation N-terminally shortened. |
Ontologies
Alternative products
| This entry describes 2 isoforms produced by alternative splicing. [Align] [Select] | ||||||
| Isoform 1 (identifier: Q6ZSZ5-1) 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: Q6ZSZ5-2) The sequence of this isoform differs from the canonical sequence as follows: 1-158: Missing. |
Sequence annotation (Features)
| Feature key | Position(s) | Length | Description | Graphical view | Feature identifier | ||||
Molecule processing | |||||||||
|---|---|---|---|---|---|---|---|---|---|
| Chain | 1 – 1173 | 1173 | Rho guanine nucleotide exchange factor 18 | PRO_0000341415 | |||||
Regions | |||||||||
| Domain | 259 – 456 | 198 | DH | ||||||
| Domain | 496 – 598 | 103 | PH | ||||||
| Coiled coil | 799 – 819 | 21 | Potential | ||||||
| Coiled coil | 850 – 960 | 111 | Potential | ||||||
| Compositional bias | 1104 – 1158 | 55 | Pro-rich | ||||||
Amino acid modifications | |||||||||
| Modified residue | 209 | 1 | Phosphoserine Ref.9 | ||||||
| Modified residue | 733 | 1 | Phosphoserine Ref.9 | ||||||
| Modified residue | 1101 | 1 | Phosphoserine Ref.10 | ||||||
| Modified residue | 1103 | 1 | Phosphoserine Ref.10 | ||||||
| Modified residue | 1124 | 1 | Phosphoserine Ref.9 | ||||||
Natural variations | |||||||||
| Alternative sequence | 1 – 158 | 158 | Missing in isoform 2. | VSP_034315 | |||||
| Natural variant | 701 | 1 | Q → R. Ref.1 Ref.4 Corresponds to variant rs2287918 [ dbSNP | Ensembl ]. | VAR_044066 | |||||
| Natural variant | 752 | 1 | R → Q. Corresponds to variant rs2287920 [ dbSNP | Ensembl ]. | VAR_044067 | |||||
| Natural variant | 1019 | 1 | N → S. Ref.1 Ref.4 Corresponds to variant rs9329368 [ dbSNP | Ensembl ]. | VAR_063099 | |||||
Experimental info | |||||||||
| Sequence conflict | 103 | 1 | V → M in BAC86801. Ref.2 | ||||||
| Sequence conflict | 183 | 1 | I → V in BAC86801. Ref.2 | ||||||
| Sequence conflict | 1107 | 1 | P → S in BAC86801. Ref.2 | ||||||
Sequences
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References
| « Hide 'large scale' references | |
| [1] | "Prediction of the coding sequences of unidentified human genes. IX. The complete sequences of 100 new cDNA clones from brain which can code for large proteins in vitro." Nagase T., Ishikawa K., Miyajima N., Tanaka A., Kotani H., Nomura N., Ohara O. DNA Res. 5:31-39(1998) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2), VARIANTS ARG-701 AND SER-1019. Tissue: Brain. |
| [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] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1). Tissue: Brain. |
| [3] | "The DNA sequence and biology of human chromosome 19." Grimwood J., Gordon L.A., Olsen A.S., Terry A., Schmutz J., Lamerdin J.E., Hellsten U., Goodstein D., Couronne O., Tran-Gyamfi M., Aerts A., Altherr M., Ashworth L., Bajorek E., Black S., Branscomb E., Caenepeel S., Carrano A.V. Lucas S.M.Nature 428:529-535(2004) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA]. |
| [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] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 1-1156 (ISOFORM 2), VARIANTS ARG-701 AND SER-1019. Tissue: Lymph. |
| [5] | "Identification and characterization of a novel Rho-specific guanine nucleotide exchange factor." Blomquist A., Schwoerer G., Schablowski H., Psoma A., Lehnen M., Jakobs K.H., Ruemenapp U. Biochem. J. 352:319-325(2000) [PubMed] [Europe PMC] [Abstract] Cited for: FUNCTION, TISSUE SPECIFICITY. |
| [6] | "A physical and transcript map of the MCOLN1 gene region on human chromosome 19p13.3-p13.2." Acierno J.S. Jr., Kennedy J.C., Falardeau J.L., Leyne M., Bromley M.C., Colman M.W., Sun M., Bove C., Ashworth L.K., Chadwick L.H., Schiripo T., Ma S., Goldin E., Schiffmann R., Slaugenhaupt S.A. Genomics 73:203-210(2001) [PubMed] [Europe PMC] [Abstract] Cited for: IDENTIFICATION. |
| [7] | "G Protein betagamma subunits stimulate p114RhoGEF, a guanine nucleotide exchange factor for RhoA and Rac1: regulation of cell shape and reactive oxygen species production." Niu J., Profirovic J., Pan H., Vaiskunaite R., Voyno-Yasenetskaya T. Circ. Res. 93:848-856(2003) [PubMed] [Europe PMC] [Abstract] Cited for: FUNCTION, TISSUE SPECIFICITY, INTERACTION WITH GNB1 AND GNG2. |
| [8] | "Cytoskeletal modification of Rho guanine nucleotide exchange factor activity: identification of a Rho guanine nucleotide exchange factor as a binding partner for Sept9b, a mammalian septin." Nagata K., Inagaki M. Oncogene 24:65-76(2005) [PubMed] [Europe PMC] [Abstract] Cited for: FUNCTION, SUBCELLULAR LOCATION, TISSUE SPECIFICITY, INTERACTION WITH SEPT9. |
| [9] | "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] [Europe PMC] [Abstract] Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-209; SER-733 AND SER-1124, MASS SPECTROMETRY. Tissue: Cervix carcinoma. |
| [10] | "Quantitative phosphoproteomics reveals widespread full phosphorylation site occupancy during mitosis." Olsen J.V., Vermeulen M., Santamaria A., Kumar C., Miller M.L., Jensen L.J., Gnad F., Cox J., Jensen T.S., Nigg E.A., Brunak S., Mann M. Sci. Signal. 3:RA3-RA3(2010) [PubMed] [Europe PMC] [Abstract] Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-1101 AND SER-1103, MASS SPECTROMETRY. Tissue: Cervix carcinoma. |
| [11] | "Initial characterization of the human central proteome." Burkard T.R., Planyavsky M., Kaupe I., Breitwieser F.P., Buerckstuemmer T., Bennett K.L., Superti-Furga G., Colinge J. BMC Syst. Biol. 5:17-17(2011) [PubMed] [Europe PMC] [Abstract] Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS]. |
| + | Additional computationally mapped references. |
Cross-references
Sequence databases | |
|---|---|
| EMBL GenBank DDBJ | AB011093 mRNA. Translation: BAA25447.1. Different initiation. AK127045 mRNA. Translation: BAC86801.1. AC008878 Genomic DNA. No translation available. AC119396 Genomic DNA. No translation available. BC077721 mRNA. Translation: AAH77721.1. Sequence problems. |
| IPI | IPI00179437. IPI00480141. IPI00895907. |
| RefSeq | NP_001124427.1. NM_001130955.1. NP_056133.2. NM_015318.3. |
| UniGene | Hs.465761. Hs.736818. |
3D structure databases | |
| HSSP | HSSP built from PDB template 1XCG based on UniProtKB O15085. |
| ProteinModelPortal | Q6ZSZ5. |
| SMR | Q6ZSZ5. Positions 220-606. |
| ModBase | Search... |
Protein-protein interaction databases | |
| IntAct | Q6ZSZ5. 1 interaction. |
| STRING | 9606.ENSP00000352995. |
PTM databases | |
| PhosphoSite | Q6ZSZ5. |
Polymorphism databases | |
| DMDM | 296439444. |
Proteomic databases | |
| PaxDb | Q6ZSZ5. |
| PRIDE | Q6ZSZ5. |
Protocols and materials databases | |
| StructuralBiologyKnowledgebase | Search... |
Genome annotation databases | |
| Ensembl | ENST00000319670; ENSP00000319200; ENSG00000104880. ENST00000359920; ENSP00000352995; ENSG00000104880. |
| GeneID | 23370. |
| KEGG | hsa:23370. |
| UCSC | uc002mgh.3. human. |
Organism-specific databases | |
| CTD | 23370. |
| GeneCards | GC19P007459. |
| HGNC | HGNC:17090. ARHGEF18. |
| HPA | HPA042689. |
| neXtProt | NX_Q6ZSZ5. |
| PharmGKB | PA128394630. |
| HUGE | Search... |
| GenAtlas | Search... |
Phylogenomic databases | |
| eggNOG | NOG243163. |
| HOGENOM | HOG000236361. |
| HOVERGEN | HBG104846. |
| InParanoid | Q6ZSZ5. |
| OMA | PRKWSEN. |
| OrthoDB | EOG466VKM. |
Enzyme and pathway databases | |
| Reactome | REACT_111102. Signal Transduction. |
Gene expression databases | |
| Bgee | Q6ZSZ5. |
| CleanEx | HS_ARHGEF18. |
| Genevestigator | Q6ZSZ5. |
Family and domain databases | |
| Gene3D | 1.20.900.10. 1 hit. 2.30.29.30. 1 hit. |
| InterPro | IPR000219. DH-domain. IPR011993. PH_like_dom. IPR001849. Pleckstrin_homology. IPR015721. RhoGEF-like. [Graphical view] |
| PANTHER | PTHR22825. PTHR22825. 1 hit. |
| Pfam | PF00169. PH. 1 hit. PF00621. RhoGEF. 1 hit. [Graphical view] |
| SMART | SM00233. PH. 1 hit. SM00325. RhoGEF. 1 hit. [Graphical view] |
| SUPFAM | SSF48065. DH-domain. 1 hit. |
| PROSITE | PS00741. DH_1. False negative. PS50010. DH_2. 1 hit. PS50003. PH_DOMAIN. 1 hit. [Graphical view] |
| ProtoNet | Search... |
Other | |
| ChiTaRS | ARHGEF18. human. |
| GenomeRNAi | 23370. |
| NextBio | 45444. |
Entry information
| Entry name | ARHGI_HUMAN | ||||||||
| Accession | Primary (citable) accession number: Q6ZSZ5 Secondary accession number(s): A8MV62 Q6DD92 | ||||||||
| Entry history |
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| 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 19 Human chromosome 19: 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 |
| SIMILARITY comments Index of protein domains and families |

Clusters with
