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Q3KR16 (PKHG6_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified April 16, 2014. Version 83. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (5) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Alt products·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended 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
Name:PLEKHG6
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length790 AA.
Sequence statusComplete.
Protein existenceEvidence 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. Cytoplasmcytoskeletonspindle. Cytoplasmcytoskeletonspindle 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 componentCytoplasm
Cytoskeleton
   Coding sequence diversityAlternative splicing
Polymorphism
   Molecular functionGTPase activation
   Technical termComplete proteome
Reference proteome
Gene Ontology (GO)
   Cellular_componentcleavage furrow

Inferred from electronic annotation. Source: UniProtKB-SubCell

cytoplasm

Inferred from electronic annotation. Source: UniProtKB-SubCell

spindle pole

Inferred from electronic annotation. Source: UniProtKB-SubCell

   Molecular_functionGTPase activator activity

Inferred from electronic annotation. Source: UniProtKB-KW

Rho guanyl-nucleotide exchange factor activity

Inferred 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 keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 790790Pleckstrin homology domain-containing family G member 6
PRO_0000307912

Regions

Domain161 – 353193DH
Domain409 – 509101PH
Compositional bias364 – 3674Poly-Ala
Compositional bias714 – 7185Poly-Glu

Natural variations

Alternative sequence1 – 470470Missing in isoform 3.
VSP_028856
Alternative sequence1 – 4646MKAFG…GYPVL → MGCRLHAPGEKAAH in isoform 2.
VSP_028857
Alternative sequence471 – 50838SFLLI…TQQAQ → MCPREGGRASTIHQKTEKAF GQLLCQPLGEPKIQHPLK in isoform 3.
VSP_028858
Natural variant351A → T. Ref.1 Ref.5
Corresponds to variant rs740842 [ dbSNP | Ensembl ].
VAR_036710

Experimental info

Mutagenesis3511N → A: Loss of exchange activity. Ref.7
Sequence conflict3841E → G in AAI04752. Ref.5
Sequence conflict4591E → D in BAA91741. Ref.1

Sequences

Sequence LengthMass (Da)Tools
Isoform 1 [UniParc].

Last modified May 3, 2011. Version 3.
Checksum: 34A2555DEF431EF4

FASTA79088,960
        10         20         30         40         50         60 
MKAFGPPHEG PLQGLVASRI ETYGGRHRAS AQSTAGRLYP RGYPVLDPSR RRLQQYVPFA 

        70         80         90        100        110        120 
RGSGQARGLS PMRLRDPEPE KRHGGHVGAG LLHSPKLKEL TKAHELEVRL HTFSMFGMPR 

       130        140        150        160        170        180 
LPPEDRRHWE IGEGGDSGLT IEKSWRELVP GHKEMSQELC HQQEALWELL TTELIYVRKL 

       190        200        210        220        230        240 
KIMTDLLAAG LLNLQRVGLL MEVSAETLFG NVPSLIRTHR SFWDEVLGPT LEETRASGQP 

       250        260        270        280        290        300 
LDPIGLQSGF LTFGQRFHPY VQYCLRVKQT MAYAREQQET NPLFHAFVQW CEKHKRSGRQ 

       310        320        330        340        350        360 
MLCDLLIKPH QRITKYPLLL HAVLKRSPEA RAQEALNAMI EAVESFLRHI NGQVRQGEEQ 

       370        380        390        400        410        420 
ESLAAAAQRI GPYEVLEPPS DEVEKNLRPF STLDLTSPML GVASEHTRQL LLEGPVRVKE 

       430        440        450        460        470        480 
GREGKLDVYL FLFSDVLLVT KPQRKADKAK VIRPPLMLEK LVCQPLRDPN SFLLIHLTEF 

       490        500        510        520        530        540 
QCVSSALLVH CPSPTDRAQW LEKTQQAQAA LQKLKAEEYV QQKRELLTLY RDQDRESPST 

       550        560        570        580        590        600 
RPSTPSLEGS QSSAEGRTPE FSTIIPHLVV TEDTDEDAPL VPDDTSDSGY GTLIPGTPTG 

       610        620        630        640        650        660 
SRSPLSRLRQ RALRRDPRLT FSTLELRDIP LRPHPPDPQA PQRRSAPELP EGILKGGSLP 

       670        680        690        700        710        720 
QEDPPTWSEE EDGASERGNV VVETLHRARL RGQLPSSPTH ADSAGESPWE SSGEEEEEGP 

       730        740        750        760        770        780 
LFLKAGHTSL RPMRAEDMLR EIREELASQR IEGAEEPRDS RPRKLTRAQL QRMRGPHIIQ 

       790 
LDTPLSASEV 

« Hide

Isoform 2 [UniParc].

Checksum: 403CED373E96DA23
Show »

FASTA75885,486
Isoform 3 [UniParc].

Checksum: 4A0D7A82830B807F
Show »

FASTA32035,568

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. expand/collapse author list , Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K., Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S., Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O., Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H., Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B., Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., 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. expand/collapse author list , Xu H., Guo M., Pan Z., Chen Y., Ge C., Yang S., 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. expand/collapse author list , Lozado R.J., Metzker M.L., Milosavljevic A., Miner G.R., Montgomery K.T., Morgan M.B., Nazareth L.V., Scott G., Sodergren E., Song X.-Z., Steffen D., Lovering R.C., Wheeler D.A., Worley K.C., Yuan Y., Zhang Z., Adams C.Q., Ansari-Lari M.A., Ayele M., Brown M.J., Chen G., Chen Z., Clerc-Blankenburg K.P., Davis C., Delgado O., Dinh H.H., Draper H., Gonzalez-Garay M.L., Havlak P., Jackson L.R., Jacob L.S., Kelly S.H., Li L., Li Z., Liu J., Liu W., Lu J., Maheshwari M., Nguyen B.-V., Okwuonu G.O., Pasternak S., Perez L.M., Plopper F.J.H., Santibanez J., Shen H., Tabor P.E., Verduzco D., Waldron L., Wang Q., Williams G.A., Zhang J., Zhou J., Allen C.C., Amin A.G., Anyalebechi V., Bailey M., Barbaria J.A., Bimage K.E., Bryant N.P., Burch P.E., Burkett C.E., Burrell K.L., Calderon E., Cardenas V., Carter K., Casias K., Cavazos I., Cavazos S.R., Ceasar H., Chacko J., Chan S.N., Chavez D., Christopoulos C., Chu J., Cockrell R., Cox C.D., Dang M., Dathorne S.R., David R., Davis C.M., Davy-Carroll L., Deshazo D.R., Donlin J.E., D'Souza L., Eaves K.A., Egan A., Emery-Cohen A.J., Escotto M., Flagg N., Forbes L.D., Gabisi A.M., Garza M., Hamilton C., Henderson N., Hernandez O., Hines S., Hogues M.E., Huang M., Idlebird D.G., Johnson R., Jolivet A., Jones S., Kagan R., King L.M., Leal B., Lebow H., Lee S., LeVan J.M., Lewis L.C., London P., Lorensuhewa L.M., Loulseged H., Lovett D.A., Lucier A., Lucier R.L., Ma J., Madu R.C., Mapua P., Martindale A.D., Martinez E., Massey E., Mawhiney S., Meador M.G., Mendez S., Mercado C., Mercado I.C., Merritt C.E., Miner Z.L., Minja E., Mitchell T., Mohabbat F., Mohabbat K., Montgomery B., Moore N., Morris S., Munidasa M., Ngo R.N., Nguyen N.B., Nickerson E., Nwaokelemeh O.O., Nwokenkwo S., Obregon M., Oguh M., Oragunye N., Oviedo R.J., Parish B.J., Parker D.N., Parrish J., Parks K.L., Paul H.A., Payton B.A., Perez A., Perrin W., Pickens A., Primus E.L., Pu L.-L., Puazo M., Quiles M.M., Quiroz J.B., Rabata D., Reeves K., Ruiz S.J., Shao H., Sisson I., Sonaike T., Sorelle R.P., Sutton A.E., Svatek A.F., Svetz L.A., Tamerisa K.S., Taylor T.R., Teague B., Thomas N., Thorn R.D., Trejos Z.Y., Trevino B.K., Ukegbu O.N., Urban J.B., Vasquez L.I., Vera V.A., Villasana D.M., Wang L., Ward-Moore S., Warren J.T., Wei X., White F., Williamson A.L., Wleczyk R., Wooden H.S., Wooden S.H., Yen J., Yoon L., Yoon V., Zorrilla S.E., Nelson D., Kucherlapati R., Weinstock G., 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. expand/collapse author list , Yooseph S., Lu F., Nusskern D.R., Shue B.C., Zheng X.H., Zhong F., Delcher A.L., Huson D.H., Kravitz S.A., Mouchard L., Reinert K., Remington K.A., Clark A.G., Waterman M.S., Eichler E.E., Adams M.D., Hunkapiller M.W., Myers E.W., 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.
RefSeqNP_001138328.1. NM_001144856.1.
NP_001138329.1. NM_001144857.1.
NP_060643.2. NM_018173.3.
XP_005253761.1. XM_005253704.2.
UniGeneHs.631660.

3D structure databases

ProteinModelPortalQ3KR16.
SMRQ3KR16. Positions 145-507.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

BioGrid120497. 1 interaction.
STRING9606.ENSP00000011684.

PTM databases

PhosphoSiteQ3KR16.

Polymorphism databases

DMDM332278231.

Proteomic databases

PaxDbQ3KR16.
PRIDEQ3KR16.

Protocols and materials databases

StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000011684; ENSP00000011684; ENSG00000008323. [Q3KR16-1]
ENST00000304581; ENSP00000304640; ENSG00000008323. [Q3KR16-3]
ENST00000396988; ENSP00000380185; ENSG00000008323. [Q3KR16-1]
ENST00000449001; ENSP00000393194; ENSG00000008323. [Q3KR16-2]
GeneID55200.
KEGGhsa:55200.
UCSCuc001qnr.3. human. [Q3KR16-1]
uc010sex.2. human. [Q3KR16-2]

Organism-specific databases

CTD55200.
GeneCardsGC12P006419.
HGNCHGNC:25562. PLEKHG6.
HPAHPA041459.
MIM611743. gene.
neXtProtNX_Q3KR16.
PharmGKBPA142671165.
GenAtlasSearch...

Phylogenomic databases

eggNOGCOG5422.
HOGENOMHOG000169625.
HOVERGENHBG108257.
InParanoidQ3KR16.
OMAHLTEFQC.
OrthoDBEOG73BVDB.
PhylomeDBQ3KR16.
TreeFamTF316755.

Gene expression databases

ArrayExpressQ3KR16.
BgeeQ3KR16.
CleanExHS_PLEKHG6.
GenevestigatorQ3KR16.

Family and domain databases

Gene3D1.20.900.10. 1 hit.
2.30.29.30. 1 hit.
InterProIPR000219. DH-domain.
IPR011993. PH_like_dom.
IPR001849. Pleckstrin_homology.
IPR015721. RhoGEF-like.
[Graphical view]
PANTHERPTHR22825. PTHR22825. 1 hit.
PfamPF00621. RhoGEF. 1 hit.
[Graphical view]
SMARTSM00233. PH. 1 hit.
SM00325. RhoGEF. 1 hit.
[Graphical view]
SUPFAMSSF48065. SSF48065. 1 hit.
PROSITEPS50010. DH_2. 1 hit.
PS50003. PH_DOMAIN. 1 hit.
[Graphical view]
ProtoNetSearch...

Other

ChiTaRSPLEKHG6. human.
GenomeRNAi55200.
NextBio59086.
PROQ3KR16.
SOURCESearch...

Entry information

Entry namePKHG6_HUMAN
AccessionPrimary (citable) accession number: Q3KR16
Secondary accession number(s): Q3SWR1 expand/collapse secondary AC list , Q8N1P1, Q8WYY1, Q9H8F4, Q9NVK9
Entry history
Integrated into UniProtKB/Swiss-Prot: October 23, 2007
Last sequence update: May 3, 2011
Last modified: April 16, 2014
This is version 83 of the entry and version 3 of the sequence. [Complete history]
Entry statusReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny 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

SIMILARITY comments

Index of protein domains and families

MIM cross-references

Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

Human polymorphisms and disease mutations

Index of human polymorphisms and disease mutations

Human entries with polymorphisms or disease mutations

List of human entries with polymorphisms or disease mutations

Human chromosome 12

Human chromosome 12: entries, gene names and cross-references to MIM