Q3KR16 (PKHG6_HUMAN) Reviewed, UniProtKB/Swiss-Prot
Last modified
May 1, 2013.
Version 76.
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: Pleckstrin homology domain-containing family G member 6 Short name=PH domain-containing family G member 6 Alternative name(s): Myosin-interacting guanine nucleotide exchange factor Short name=MyoGEF | ||
| 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 | 790 AA. |
| Sequence status | Complete. |
| Protein existence | Evidence at protein level |
General annotation (Comments)
| Function | Guanine nucleotide exchange factor activating the small GTPase RHOA, which, in turn, induces myosin filament formation. Also activates RHOG. Does not activate RAC1, or to a much lower extent than RHOA and RHOG. Part of a functional unit, involving PLEKHG6, MYH10 and RHOA, at the cleavage furrow to advance furrow ingression during cytokinesis. In epithelial cells, required for the formation of microvilli and membrane ruffles on the apical pole. Along with EZR, required for normal macropinocytosis. Ref.6 Ref.7 |
| Subunit structure | Interacts with MYH10. Interacts with ELMO1 and EZR (in an open conformation). Interacts with CSPP1. Ref.6 Ref.7 Ref.8 |
| Subcellular location | Cytoplasm. Cytoplasm › cytoskeleton › spindle. Cytoplasm › cytoskeleton › spindle pole. Cleavage furrow. Note: During mitosis, localizes to the spindle pole, central spindle and cleavage furrow. In epithelial cells, recruited to the apical membrane by EZR. Ref.6 Ref.7 |
| Tissue specificity | Highest expression in the placenta. Low levels in small intestine, lung, liver, kidney, thymus and heart. |
| Sequence similarities | Contains 1 DH (DBL-homology) domain. Contains 1 PH domain. |
Ontologies
| Keywords | |
|---|---|
| Cellular component | Cytoplasm Cytoskeleton |
| Coding sequence diversity | Alternative splicing Polymorphism |
| Molecular function | GTPase activation |
| PTM | Phosphoprotein |
| Technical term | Complete proteome Reference proteome |
| Gene Ontology (GO) | |
| Biological_process | positive regulation of GTPase activity Inferred from electronic annotation. Source: GOC regulation of Rho protein signal transductionInferred from electronic annotation. Source: InterPro |
| Cellular_component | cleavage furrow Inferred from electronic annotation. Source: UniProtKB-SubCell cytoplasmInferred from electronic annotation. Source: UniProtKB-SubCell spindle poleInferred from electronic annotation. Source: UniProtKB-SubCell |
| Molecular_function | GTPase activator activity Inferred from electronic annotation. Source: UniProtKB-KW Rho guanyl-nucleotide exchange factor activityInferred from electronic annotation. Source: InterPro phospholipid bindingInferred from electronic annotation. Source: InterPro |
| Complete GO annotation... | |
Alternative products
| This entry describes 3 isoforms produced by alternative splicing. [Align] [Select] | ||||||
| Isoform 1 (identifier: Q3KR16-1) 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: Q3KR16-2) The sequence of this isoform differs from the canonical sequence as follows: 1-46: MKAFGPPHEGPLQGLVASRIETYGGRHRASAQSTAGRLYPRGYPVL → MGCRLHAPGEKAAH | ||||||
| Note: No experimental confirmation available. | ||||||
| Isoform 3 (identifier: Q3KR16-3) The sequence of this isoform differs from the canonical sequence as follows: 1-470: Missing. 471-508: SFLLIHLTEF...QWLEKTQQAQ → MCPREGGRAS...GEPKIQHPLK | ||||||
| Note: No experimental confirmation available. |
Sequence annotation (Features)
| Feature key | Position(s) | Length | Description | Graphical view | Feature identifier | ||||
Molecule processing | |||||||||
|---|---|---|---|---|---|---|---|---|---|
| Chain | 1 – 790 | 790 | Pleckstrin homology domain-containing family G member 6 | PRO_0000307912 | |||||
Regions | |||||||||
| Domain | 161 – 353 | 193 | DH | ||||||
| Domain | 409 – 509 | 101 | PH | ||||||
| Compositional bias | 364 – 367 | 4 | Poly-Ala | ||||||
| Compositional bias | 714 – 718 | 5 | Poly-Glu | ||||||
Amino acid modifications | |||||||||
| Modified residue | 33 | 1 | Phosphoserine By similarity | ||||||
Natural variations | |||||||||
| Alternative sequence | 1 – 470 | 470 | Missing in isoform 3. | VSP_028856 | |||||
| Alternative sequence | 1 – 46 | 46 | MKAFG…GYPVL → MGCRLHAPGEKAAH in isoform 2. | VSP_028857 | |||||
| Alternative sequence | 471 – 508 | 38 | SFLLI…TQQAQ → MCPREGGRASTIHQKTEKAF GQLLCQPLGEPKIQHPLK in isoform 3. | VSP_028858 | |||||
| Natural variant | 35 | 1 | A → T. Ref.1 Ref.5 Corresponds to variant rs740842 [ dbSNP | Ensembl ]. | VAR_036710 | |||||
Experimental info | |||||||||
| Mutagenesis | 351 | 1 | N → A: Loss of exchange activity. Ref.7 | ||||||
| Sequence conflict | 384 | 1 | E → G in AAI04752. Ref.5 | ||||||
| Sequence conflict | 459 | 1 | E → D in BAA91741. Ref.1 | ||||||
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), VARIANT THR-35. Tissue: Tongue. |
| [2] | "Large-scale cDNA transfection screening for genes related to cancer development and progression." Wan D., Gong Y., Qin W., Zhang P., Li J., Wei L., Zhou X., Li H., Qiu X., Zhong F., He L., Yu J., Yao G., Jiang H., Qian L., Yu Y., Shu H., Chen X. Gu J.Proc. Natl. Acad. Sci. U.S.A. 101:15724-15729(2004) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 3). |
| [3] | "The finished DNA sequence of human chromosome 12." Scherer S.E., Muzny D.M., Buhay C.J., Chen R., Cree A., Ding Y., Dugan-Rocha S., Gill R., Gunaratne P., Harris R.A., Hawes A.C., Hernandez J., Hodgson A.V., Hume J., Jackson A., Khan Z.M., Kovar-Smith C., Lewis L.R. Gibbs R.A.Nature 440:346-351(2006) [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] (ISOFORM 1), VARIANT THR-35. |
| [6] | "A novel guanine nucleotide exchange factor MyoGEF is required for cytokinesis." Wu D., Asiedu M., Adelstein R.S., Wei Q. Cell Cycle 5:1234-1239(2006) [PubMed] [Europe PMC] [Abstract] Cited for: FUNCTION, INTERACTION WITH MYH10, SUBCELLULAR LOCATION. |
| [7] | "Interaction of ezrin with the novel guanine nucleotide exchange factor PLEKHG6 promotes RhoG-dependent apical cytoskeleton rearrangements in epithelial cells." D'Angelo R., Aresta S., Blangy A., Del Maestro L., Louvard D., Arpin M. Mol. Biol. Cell 18:4780-4793(2007) [PubMed] [Europe PMC] [Abstract] Cited for: FUNCTION, INTERACTION WITH ELMO1 AND EZR, SUBCELLULAR LOCATION, MUTAGENESIS OF ASN-351. |
| [8] | "Centrosome/spindle pole-associated protein regulates cytokinesis via promoting the recruitment of MyoGEF to the central spindle." Asiedu M., Wu D., Matsumura F., Wei Q. Mol. Biol. Cell 20:1428-1440(2009) [PubMed] [Europe PMC] [Abstract] Cited for: INTERACTION WITH CSPP1. |
| + | Additional computationally mapped references. |
Cross-references
Sequence databases | |
|---|---|
| EMBL GenBank DDBJ | AK001527 mRNA. Translation: BAA91741.1. AK095373 mRNA. Translation: BAC04539.1. AF289613 mRNA. Translation: AAL55797.1. BC104751 mRNA. Translation: AAI04752.1. BC105961 mRNA. Translation: AAI05962.1. BC109095 mRNA. Translation: AAI09096.1. AC006057 Genomic DNA. No translation available. CH471116 Genomic DNA. Translation: EAW88809.1. |
| IPI | IPI00018837. IPI00103883. IPI00793050. |
| RefSeq | NP_001138328.1. NM_001144856.1. NP_001138329.1. NM_001144857.1. NP_060643.2. NM_018173.3. |
| UniGene | Hs.631660. |
3D structure databases | |
| ProteinModelPortal | Q3KR16. |
| SMR | Q3KR16. Positions 145-507. |
| ModBase | Search... |
Protein-protein interaction databases | |
| STRING | 9606.ENSP00000011684. |
PTM databases | |
| PhosphoSite | Q3KR16. |
Polymorphism databases | |
| DMDM | 221222471. |
Proteomic databases | |
| PaxDb | Q3KR16. |
| PRIDE | Q3KR16. |
Protocols and materials databases | |
| StructuralBiologyKnowledgebase | Search... |
Genome annotation databases | |
| Ensembl | ENST00000011684; ENSP00000011684; ENSG00000008323. ENST00000304581; ENSP00000304640; ENSG00000008323. ENST00000396988; ENSP00000380185; ENSG00000008323. ENST00000449001; ENSP00000393194; ENSG00000008323. |
| GeneID | 55200. |
| KEGG | hsa:55200. |
| UCSC | uc001qnr.3. human. uc010sex.2. human. |
Organism-specific databases | |
| CTD | 55200. |
| GeneCards | GC12P006419. |
| HGNC | HGNC:25562. PLEKHG6. |
| HPA | HPA041459. |
| MIM | 611743. gene. |
| neXtProt | NX_Q3KR16. |
| PharmGKB | PA142671165. |
| GenAtlas | Search... |
Phylogenomic databases | |
| eggNOG | COG5422. |
| HOGENOM | HOG000169625. |
| HOVERGEN | HBG108257. |
| InParanoid | Q3KR16. |
| OMA | AQRIGPY. |
| OrthoDB | EOG4RFKS4. |
| PhylomeDB | Q3KR16. |
Gene expression databases | |
| ArrayExpress | Q3KR16. |
| Bgee | Q3KR16. |
| CleanEx | HS_PLEKHG6. |
| Genevestigator | Q3KR16. |
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 | 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 | PLEKHG6. human. |
| GenomeRNAi | 55200. |
| NextBio | 59086. |
| SOURCE | Search... |
Entry information
| Entry name | PKHG6_HUMAN | ||||||||
| Accession | Primary (citable) accession number: Q3KR16 Secondary accession number(s): Q3SWR1 Q9NVK9 | ||||||||
| 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 12 Human chromosome 12: 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
