Q15052 (ARHG6_HUMAN) Reviewed, UniProtKB/Swiss-Prot
Last modified
May 1, 2013.
Version 147.
History...
Names·Attributes·General annotation·Ontologies·Interactions·Alt products·Sequence annotation·Sequences·References·Web links·Cross-refs·Entry info·DocumentsCustomize order
Names·Attributes·General annotation·Ontologies·Interactions·Alt products·Sequence annotation·Sequences·References·Web links·Cross-refs·Entry info·DocumentsCustomize orderNames and origin
| Protein names | Recommended name: Rho guanine nucleotide exchange factor 6 Alternative name(s): Alpha-Pix COOL-2 PAK-interacting exchange factor alpha Rac/Cdc42 guanine nucleotide exchange factor 6 | ||||
| Gene names |
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| 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 | 776 AA. |
| Sequence status | Complete. |
| Protein existence | Evidence at protein level |
General annotation (Comments)
| Function | Acts as a RAC1 guanine nucleotide exchange factor (GEF). |
| Subunit structure | Interacts with PAK kinases through the SH3 domain. Interacts with GIT1. Component of cytoplasmic complexes, which also contain PXN, GIT1 and PAK1 By similarity. Interacts with PARVB. Interacts with BIN2. Identified in a complex with BIN2 and GIT2. Ref.10 Ref.12 |
| Subcellular location | Cell projection › lamellipodium By similarity. |
| Tissue specificity | Ubiquitous. |
| Involvement in disease | Mental retardation, X-linked 46 (MRX46) [MIM:300436]: A disorder characterized by significantly below average general intellectual functioning associated with impairments in adaptative behavior and manifested during the developmental period. Intellectual deficiency is the only primary symptom of non-syndromic X-linked mental retardation, while syndromic mental retardation presents with associated physical, neurological and/or psychiatric manifestations. |
| Sequence similarities | Contains 1 CH (calponin-homology) domain. Contains 1 DH (DBL-homology) domain. Contains 1 PH domain. Contains 1 SH3 domain. |
| Sequence caution | The sequence BAA02796.1 differs from that shown. Reason: Erroneous initiation. |
Ontologies
Binary interactions
With | Entry | #Exp. | IntAct | Notes |
|---|---|---|---|---|
| NAA10 | P41227 | 3 | EBI-1642523,EBI-747693 |
Alternative products
| This entry describes 2 isoforms produced by alternative splicing. [Align] [Select] | ||||||
| Isoform 1 (identifier: Q15052-1) 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: Q15052-2) The sequence of this isoform differs from the canonical sequence as follows: 1-154: Missing. |
Sequence annotation (Features)
| Feature key | Position(s) | Length | Description | Graphical view | Feature identifier | |||||||||||||||||||||||||||||||
Molecule processing | ||||||||||||||||||||||||||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Chain | 1 – 776 | 776 | Rho guanine nucleotide exchange factor 6 | PRO_0000080917 | ||||||||||||||||||||||||||||||||
Regions | ||||||||||||||||||||||||||||||||||||
| Domain | 1 – 110 | 110 | CH | |||||||||||||||||||||||||||||||||
| Domain | 160 – 219 | 60 | SH3 | |||||||||||||||||||||||||||||||||
| Domain | 241 – 421 | 181 | DH | |||||||||||||||||||||||||||||||||
| Domain | 443 – 548 | 106 | PH | |||||||||||||||||||||||||||||||||
Amino acid modifications | ||||||||||||||||||||||||||||||||||||
| Modified residue | 122 | 1 | Phosphoserine By similarity | |||||||||||||||||||||||||||||||||
| Modified residue | 126 | 1 | Phosphoserine Ref.11 | |||||||||||||||||||||||||||||||||
| Modified residue | 144 | 1 | Phosphoserine Ref.11 | |||||||||||||||||||||||||||||||||
| Modified residue | 150 | 1 | Phosphoserine Ref.9 Ref.11 | |||||||||||||||||||||||||||||||||
| Modified residue | 488 | 1 | Phosphoserine By similarity | |||||||||||||||||||||||||||||||||
| Modified residue | 640 | 1 | Phosphoserine Ref.11 | |||||||||||||||||||||||||||||||||
| Modified residue | 650 | 1 | Phosphothreonine By similarity | |||||||||||||||||||||||||||||||||
| Modified residue | 684 | 1 | Phosphoserine Ref.11 | |||||||||||||||||||||||||||||||||
Natural variations | ||||||||||||||||||||||||||||||||||||
| Alternative sequence | 1 – 154 | 154 | Missing in isoform 2. | VSP_015782 | ||||||||||||||||||||||||||||||||
| Natural variant | 297 | 1 | Q → H. Corresponds to variant rs5974620 [ dbSNP | Ensembl ]. | VAR_051981 | ||||||||||||||||||||||||||||||||
Experimental info | ||||||||||||||||||||||||||||||||||||
| Sequence conflict | 199 | 1 | E → G in CAD97632. Ref.2 | |||||||||||||||||||||||||||||||||
Secondary structure | ||||||||||||||||||||||||||||||||||||
Helix Strand Turn | ||||||||||||||||||||||||||||||||||||
| Helix | 4 – 14 | 11 | ||||||||||||||||||||||||||||||||||
| Helix | 27 – 37 | 11 | ||||||||||||||||||||||||||||||||||
| Helix | 39 – 48 | 10 | ||||||||||||||||||||||||||||||||||
| Helix | 63 – 80 | 18 | ||||||||||||||||||||||||||||||||||
| Helix | 87 – 91 | 5 | ||||||||||||||||||||||||||||||||||
| Helix | 96 – 110 | 15 | ||||||||||||||||||||||||||||||||||
| Beta strand | 163 – 166 | 4 | ||||||||||||||||||||||||||||||||||
| Beta strand | 187 – 191 | 5 | ||||||||||||||||||||||||||||||||||
| Beta strand | 194 – 196 | 3 | ||||||||||||||||||||||||||||||||||
| Beta strand | 198 – 202 | 5 | ||||||||||||||||||||||||||||||||||
| Beta strand | 205 – 209 | 5 | ||||||||||||||||||||||||||||||||||
| Turn | 211 – 213 | 3 | ||||||||||||||||||||||||||||||||||
| Beta strand | 214 – 216 | 3 | ||||||||||||||||||||||||||||||||||
| Helix | 219 – 222 | 4 | ||||||||||||||||||||||||||||||||||
Sequences
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References
| « Hide 'large scale' references | |
| [1] | "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] (ISOFORMS 1 AND 2). Tissue: Brain and Placenta. |
| [2] | "The full-ORF clone resource of the German cDNA consortium." Bechtel S., Rosenfelder H., Duda A., Schmidt C.P., Ernst U., Wellenreuther R., Mehrle A., Schuster C., Bahr A., Bloecker H., Heubner D., Hoerlein A., Michel G., Wedler H., Koehrer K., Ottenwaelder B., Poustka A., Wiemann S., Schupp I. BMC Genomics 8:399-399(2007) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA]. Tissue: Adipose tissue. |
| [3] | "The DNA sequence of the human X chromosome." Ross M.T., Grafham D.V., Coffey A.J., Scherer S., McLay K., Muzny D., Platzer M., Howell G.R., Burrows C., Bird C.P., Frankish A., Lovell F.L., Howe K.L., Ashurst J.L., Fulton R.S., Sudbrak R., Wen G., Jones M.C. Bentley D.R.Nature 434:325-337(2005) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE 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 (SEP-2005) to the EMBL/GenBank/DDBJ databases Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA]. |
| [5] | "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] (ISOFORMS 1 AND 2). Tissue: Testis. |
| [6] | "Mutations in ARHGEF6, encoding a guanine nucleotide exchange factor for Rho GTPases, in patients with X-linked mental retardation." Kutsche K., Yntema H., Brandt A., Jantke I., Nothwang H.G., Orth U., Boavida M.G., David D., Chelly J., Fryns J.-P., Moraine C., Ropers H.-H., Hamel B.C.J., van Bokhoven H., Gal A. Nat. Genet. 26:247-250(2000) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 1-3 (ISOFORM 1), DISEASE. |
| [7] | "Prediction of the coding sequences of unidentified human genes. I. The coding sequences of 40 new genes (KIAA0001-KIAA0040) deduced by analysis of randomly sampled cDNA clones from human immature myeloid cell line KG-1." Nomura N., Miyajima N., Sazuka T., Tanaka A., Kawarabayasi Y., Sato S., Nagase T., Seki N., Ishikawa K., Tabata S. DNA Res. 1:27-35(1994) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 4-776 (ISOFORM 1). Tissue: Bone marrow. |
| [8] | "Characterization of ARHGEF6, a guanine nucleotide exchange factor for Rho GTPases and a candidate gene for X-linked mental retardation: mutation screening in Borjeson-Forssman-Lehmann syndrome and MRX27." Lower K.M., Gecz J. Am. J. Med. Genet. 100:43-48(2001) [PubMed] [Europe PMC] [Abstract] Cited for: CHARACTERIZATION. |
| [9] | "Robust phosphoproteomic profiling of tyrosine phosphorylation sites from human T cells using immobilized metal affinity chromatography and tandem mass spectrometry." Brill L.M., Salomon A.R., Ficarro S.B., Mukherji M., Stettler-Gill M., Peters E.C. Anal. Chem. 76:2763-2772(2004) [PubMed] [Europe PMC] [Abstract] Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-150, MASS SPECTROMETRY. Tissue: Leukemic T-cell. |
| [10] | "The first CH domain of affixin activates Cdc42 and Rac1 through alphaPIX, a Cdc42/Rac1-specific guanine nucleotide exchanging factor." Mishima W., Suzuki A., Yamaji S., Yoshimi R., Ueda A., Kaneko T., Tanaka J., Miwa Y., Ohno S., Ishigatsubo Y. Genes Cells 9:193-204(2004) [PubMed] [Europe PMC] [Abstract] Cited for: INTERACTION WITH PARVB. |
| [11] | "Quantitative phosphoproteomic analysis of T cell receptor signaling reveals system-wide modulation of protein-protein interactions." Mayya V., Lundgren D.H., Hwang S.-I., Rezaul K., Wu L., Eng J.K., Rodionov V., Han D.K. Sci. Signal. 2:RA46-RA46(2009) [PubMed] [Europe PMC] [Abstract] Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-126; SER-144; SER-150; SER-640 AND SER-684, MASS SPECTROMETRY. Tissue: Leukemic T-cell. |
| [12] | "Bin2 is a membrane sculpting N-BAR protein that influences leucocyte podosomes, motility and phagocytosis." Sanchez-Barrena M.J., Vallis Y., Clatworthy M.R., Doherty G.J., Veprintsev D.B., Evans P.R., McMahon H.T. PLoS ONE 7:E52401-E52401(2012) [PubMed] [Europe PMC] [Abstract] Cited for: INTERACTION WITH BIN2, IDENTIFICATION IN A COMPLEX WITH BIN2 AND GIT2. |
| [13] | "Solution structure of the CH domain and the SH3 domain in RAC/CDC42 guanine nucleotide exchange factor (GEF) 6." RIKEN structural genomics initiative (RSGI) Submitted (FEB-2004) to the PDB data bank Cited for: STRUCTURE BY NMR OF 4-222. |
| + | Additional computationally mapped references. |
Web resources
Cross-references
Sequence databases | |||||||||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| EMBL GenBank DDBJ | AK291742 mRNA. Translation: BAF84431.1. AK294929 mRNA. Translation: BAH11929.1. BX537390 mRNA. Translation: CAD97632.1. AL683813, AL135783 Genomic DNA. Translation: CAI39443.1. AL135783, AL683813 Genomic DNA. Translation: CAI42899.1. AL135783 Genomic DNA. Translation: CAI42903.1. CH471150 Genomic DNA. Translation: EAW88460.1. CH471150 Genomic DNA. Translation: EAW88461.1. BC039856 mRNA. Translation: AAH39856.1. BC043505 mRNA. Translation: AAH43505.1. Different termination. AF207831 mRNA. Translation: AAG27169.1. D13631 mRNA. Translation: BAA02796.1. Different initiation. D25304 mRNA. Translation: BAA04985.1. | ||||||||||||||||||
| IPI | IPI00014256. IPI00640748. | ||||||||||||||||||
| RefSeq | NP_004831.1. NM_004840.2. | ||||||||||||||||||
| UniGene | Hs.522795. | ||||||||||||||||||
3D structure databases | |||||||||||||||||||
| PDBe RCSB PDB PDBj |
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| ProteinModelPortal | Q15052. | ||||||||||||||||||
| ModBase | Search... | ||||||||||||||||||
Protein-protein interaction databases | |||||||||||||||||||
| IntAct | Q15052. 4 interactions. | ||||||||||||||||||
| MINT | MINT-2791937. | ||||||||||||||||||
| STRING | 9606.ENSP00000250617. | ||||||||||||||||||
PTM databases | |||||||||||||||||||
| PhosphoSite | Q15052. | ||||||||||||||||||
Polymorphism databases | |||||||||||||||||||
| DMDM | 17371603. | ||||||||||||||||||
Proteomic databases | |||||||||||||||||||
| PaxDb | Q15052. | ||||||||||||||||||
| PRIDE | Q15052. | ||||||||||||||||||
Protocols and materials databases | |||||||||||||||||||
| StructuralBiologyKnowledgebase | Search... | ||||||||||||||||||
Genome annotation databases | |||||||||||||||||||
| Ensembl | ENST00000250617; ENSP00000250617; ENSG00000129675. ENST00000370620; ENSP00000359654; ENSG00000129675. ENST00000370622; ENSP00000359656; ENSG00000129675. | ||||||||||||||||||
| GeneID | 9459. | ||||||||||||||||||
| KEGG | hsa:9459. | ||||||||||||||||||
| UCSC | uc004fab.3. human. | ||||||||||||||||||
Organism-specific databases | |||||||||||||||||||
| CTD | 9459. | ||||||||||||||||||
| GeneCards | GC0XM135747. | ||||||||||||||||||
| HGNC | HGNC:685. ARHGEF6. | ||||||||||||||||||
| HPA | HPA003578. | ||||||||||||||||||
| MIM | 300267. gene. 300436. phenotype. | ||||||||||||||||||
| neXtProt | NX_Q15052. | ||||||||||||||||||
| Orphanet | 777. X-linked nonsyndromic intellectual deficit. | ||||||||||||||||||
| PharmGKB | PA24976. | ||||||||||||||||||
| HUGE | Search... | ||||||||||||||||||
| GenAtlas | Search... | ||||||||||||||||||
Phylogenomic databases | |||||||||||||||||||
| eggNOG | NOG314429. | ||||||||||||||||||
| HOGENOM | HOG000231381. | ||||||||||||||||||
| HOVERGEN | HBG050569. | ||||||||||||||||||
| InParanoid | Q15052. | ||||||||||||||||||
| KO | K05729. | ||||||||||||||||||
| OMA | NKATEDQ. | ||||||||||||||||||
| OrthoDB | EOG4CVG6B. | ||||||||||||||||||
| PhylomeDB | Q15052. | ||||||||||||||||||
Enzyme and pathway databases | |||||||||||||||||||
| Pathway_Interaction_DB | pi3kcipathway. Class I PI3K signaling events. | ||||||||||||||||||
| Reactome | REACT_111102. Signal Transduction. REACT_111155. Cell-Cell communication. | ||||||||||||||||||
Gene expression databases | |||||||||||||||||||
| ArrayExpress | Q15052. | ||||||||||||||||||
| Bgee | Q15052. | ||||||||||||||||||
| CleanEx | HS_ARHGEF6. | ||||||||||||||||||
| Genevestigator | Q15052. | ||||||||||||||||||
| GermOnline | ENSG00000129675. Homo sapiens. | ||||||||||||||||||
Family and domain databases | |||||||||||||||||||
| Gene3D | 1.10.418.10. 1 hit. 1.20.900.10. 1 hit. 2.30.29.30. 1 hit. | ||||||||||||||||||
| InterPro | IPR001715. CH-domain. IPR000219. DH-domain. IPR011993. PH_like_dom. IPR001849. Pleckstrin_homology. IPR011511. SH3_2. IPR001452. SH3_domain. IPR003096. SM22_calponin. [Graphical view] | ||||||||||||||||||
| Pfam | PF00307. CH. 1 hit. PF00169. PH. 1 hit. PF00621. RhoGEF. 1 hit. PF07653. SH3_2. 1 hit. [Graphical view] | ||||||||||||||||||
| PRINTS | PR00452. SH3DOMAIN. PR00888. SM22CALPONIN. | ||||||||||||||||||
| SMART | SM00033. CH. 1 hit. SM00233. PH. 1 hit. SM00325. RhoGEF. 1 hit. SM00326. SH3. 1 hit. [Graphical view] | ||||||||||||||||||
| SUPFAM | SSF47576. Calponin-homology. 1 hit. SSF48065. DH-domain. 1 hit. SSF50044. SH3. 1 hit. | ||||||||||||||||||
| PROSITE | PS50021. CH. 1 hit. PS00741. DH_1. False negative. PS50010. DH_2. 1 hit. PS50003. PH_DOMAIN. 1 hit. PS50002. SH3. 1 hit. [Graphical view] | ||||||||||||||||||
| ProtoNet | Search... | ||||||||||||||||||
Other | |||||||||||||||||||
| ChiTaRS | ARHGEF6. human. | ||||||||||||||||||
| EvolutionaryTrace | Q15052. | ||||||||||||||||||
| GenomeRNAi | 9459. | ||||||||||||||||||
| NextBio | 35442. | ||||||||||||||||||
| SOURCE | Search... | ||||||||||||||||||
Entry information
| Entry name | ARHG6_HUMAN | ||||||||
| Accession | Primary (citable) accession number: Q15052 Secondary accession number(s): A6NMW9 Q86XH0 | ||||||||
| 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 X Human chromosome X: 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
