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Protein

Pleckstrin homology domain-containing family G member 6

Gene

PLEKHG6

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 5 out of 5-Experimental evidence at protein leveli

Functioni

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.2 Publications

GO - Molecular functioni

GO - Biological processi

Complete GO annotation...

Keywords - Molecular functioni

GTPase activation

Enzyme and pathway databases

SIGNORiQ3KR16.

Names & Taxonomyi

Protein namesi
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 namesi
Name:PLEKHG6
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 12

Organism-specific databases

HGNCiHGNC:25562. PLEKHG6.

Subcellular locationi

GO - Cellular componenti

Complete GO annotation...

Keywords - Cellular componenti

Cell projection, Cytoplasm, Cytoskeleton

Pathology & Biotechi

Mutagenesis

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Mutagenesisi351N → A: Loss of exchange activity. 1 Publication1

Organism-specific databases

DisGeNETi55200.
OpenTargetsiENSG00000008323.
PharmGKBiPA142671165.

Polymorphism and mutation databases

BioMutaiPLEKHG6.
DMDMi332278231.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00003079121 – 790Pleckstrin homology domain-containing family G member 6Add BLAST790

Proteomic databases

PaxDbiQ3KR16.
PeptideAtlasiQ3KR16.
PRIDEiQ3KR16.

PTM databases

iPTMnetiQ3KR16.
PhosphoSitePlusiQ3KR16.

Expressioni

Tissue specificityi

Highest expression in the placenta. Low levels in small intestine, lung, liver, kidney, thymus and heart.

Gene expression databases

BgeeiENSG00000008323.
CleanExiHS_PLEKHG6.
ExpressionAtlasiQ3KR16. baseline and differential.
GenevisibleiQ3KR16. HS.

Organism-specific databases

HPAiHPA041459.

Interactioni

Subunit structurei

Interacts with MYH10. Interacts with ELMO1 and EZR (in an open conformation). Interacts with CSPP1.3 Publications

Binary interactionsi

WithEntry#Exp.IntActNotes
CEP55D3DR373EBI-10240979,EBI-10173536

Protein-protein interaction databases

BioGridi120497. 19 interactors.
IntActiQ3KR16. 2 interactors.
STRINGi9606.ENSP00000011684.

Structurei

3D structure databases

ProteinModelPortaliQ3KR16.
SMRiQ3KR16.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Domaini161 – 353DHPROSITE-ProRule annotationAdd BLAST193
Domaini409 – 509PHPROSITE-ProRule annotationAdd BLAST101

Compositional bias

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Compositional biasi364 – 367Poly-Ala4
Compositional biasi714 – 718Poly-Glu5

Sequence similaritiesi

Contains 1 DH (DBL-homology) domain.PROSITE-ProRule annotation
Contains 1 PH domain.PROSITE-ProRule annotation

Phylogenomic databases

eggNOGiKOG3521. Eukaryota.
ENOG410XRPT. LUCA.
GeneTreeiENSGT00510000046843.
HOGENOMiHOG000169625.
HOVERGENiHBG108257.
InParanoidiQ3KR16.
OMAiHLTEFQC.
OrthoDBiEOG091G00RK.
PhylomeDBiQ3KR16.
TreeFamiTF316755.

Family and domain databases

Gene3Di1.20.900.10. 1 hit.
2.30.29.30. 1 hit.
InterProiIPR000219. DH-domain.
IPR011993. PH_dom-like.
IPR001849. PH_domain.
[Graphical view]
PfamiPF00621. RhoGEF. 1 hit.
[Graphical view]
SMARTiSM00233. PH. 1 hit.
SM00325. RhoGEF. 1 hit.
[Graphical view]
SUPFAMiSSF48065. SSF48065. 1 hit.
SSF50729. SSF50729. 1 hit.
PROSITEiPS50010. DH_2. 1 hit.
PS50003. PH_DOMAIN. 1 hit.
[Graphical view]

Sequences (3)i

Sequence statusi: Complete.

This entry describes 3 isoformsi produced by alternative splicing. AlignAdd to basket

Isoform 1 (identifier: Q3KR16-1) [UniParc]FASTAAdd to basket

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.

« Hide

        10         20         30         40         50
MKAFGPPHEG PLQGLVASRI ETYGGRHRAS AQSTAGRLYP RGYPVLDPSR
60 70 80 90 100
RRLQQYVPFA RGSGQARGLS PMRLRDPEPE KRHGGHVGAG LLHSPKLKEL
110 120 130 140 150
TKAHELEVRL HTFSMFGMPR LPPEDRRHWE IGEGGDSGLT IEKSWRELVP
160 170 180 190 200
GHKEMSQELC HQQEALWELL TTELIYVRKL KIMTDLLAAG LLNLQRVGLL
210 220 230 240 250
MEVSAETLFG NVPSLIRTHR SFWDEVLGPT LEETRASGQP LDPIGLQSGF
260 270 280 290 300
LTFGQRFHPY VQYCLRVKQT MAYAREQQET NPLFHAFVQW CEKHKRSGRQ
310 320 330 340 350
MLCDLLIKPH QRITKYPLLL HAVLKRSPEA RAQEALNAMI EAVESFLRHI
360 370 380 390 400
NGQVRQGEEQ ESLAAAAQRI GPYEVLEPPS DEVEKNLRPF STLDLTSPML
410 420 430 440 450
GVASEHTRQL LLEGPVRVKE GREGKLDVYL FLFSDVLLVT KPQRKADKAK
460 470 480 490 500
VIRPPLMLEK LVCQPLRDPN SFLLIHLTEF QCVSSALLVH CPSPTDRAQW
510 520 530 540 550
LEKTQQAQAA LQKLKAEEYV QQKRELLTLY RDQDRESPST RPSTPSLEGS
560 570 580 590 600
QSSAEGRTPE FSTIIPHLVV TEDTDEDAPL VPDDTSDSGY GTLIPGTPTG
610 620 630 640 650
SRSPLSRLRQ RALRRDPRLT FSTLELRDIP LRPHPPDPQA PQRRSAPELP
660 670 680 690 700
EGILKGGSLP QEDPPTWSEE EDGASERGNV VVETLHRARL RGQLPSSPTH
710 720 730 740 750
ADSAGESPWE SSGEEEEEGP LFLKAGHTSL RPMRAEDMLR EIREELASQR
760 770 780 790
IEGAEEPRDS RPRKLTRAQL QRMRGPHIIQ LDTPLSASEV
Length:790
Mass (Da):88,960
Last modified:May 3, 2011 - v3
Checksum:i34A2555DEF431EF4
GO
Isoform 2 (identifier: Q3KR16-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-46: MKAFGPPHEGPLQGLVASRIETYGGRHRASAQSTAGRLYPRGYPVL → MGCRLHAPGEKAAH

Note: No experimental confirmation available.
Show »
Length:758
Mass (Da):85,486
Checksum:i403CED373E96DA23
GO
Isoform 3 (identifier: Q3KR16-3) [UniParc]FASTAAdd to basket

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.
Show »
Length:320
Mass (Da):35,568
Checksum:i4A0D7A82830B807F
GO

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti384E → G in AAI04752 (PubMed:15489334).Curated1
Sequence conflicti459E → D in BAA91741 (PubMed:14702039).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_03671035A → T.2 PublicationsCorresponds to variant rs740842dbSNPEnsembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_0288561 – 470Missing in isoform 3. 1 PublicationAdd BLAST470
Alternative sequenceiVSP_0288571 – 46MKAFG…GYPVL → MGCRLHAPGEKAAH in isoform 2. 1 PublicationAdd BLAST46
Alternative sequenceiVSP_028858471 – 508SFLLI…TQQAQ → MCPREGGRASTIHQKTEKAF GQLLCQPLGEPKIQHPLK in isoform 3. 1 PublicationAdd BLAST38

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
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.
CCDSiCCDS44808.1. [Q3KR16-2]
CCDS8541.1. [Q3KR16-1]
RefSeqiNP_001138328.1. NM_001144856.1. [Q3KR16-1]
NP_001138329.1. NM_001144857.1. [Q3KR16-2]
NP_060643.2. NM_018173.3. [Q3KR16-1]
XP_005253761.1. XM_005253704.4. [Q3KR16-1]
UniGeneiHs.631660.

Genome annotation databases

EnsembliENST00000011684; ENSP00000011684; ENSG00000008323. [Q3KR16-1]
ENST00000304581; ENSP00000304640; ENSG00000008323. [Q3KR16-3]
ENST00000396988; ENSP00000380185; ENSG00000008323. [Q3KR16-1]
ENST00000449001; ENSP00000393194; ENSG00000008323. [Q3KR16-2]
GeneIDi55200.
KEGGihsa:55200.
UCSCiuc001qnr.4. human. [Q3KR16-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
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.
CCDSiCCDS44808.1. [Q3KR16-2]
CCDS8541.1. [Q3KR16-1]
RefSeqiNP_001138328.1. NM_001144856.1. [Q3KR16-1]
NP_001138329.1. NM_001144857.1. [Q3KR16-2]
NP_060643.2. NM_018173.3. [Q3KR16-1]
XP_005253761.1. XM_005253704.4. [Q3KR16-1]
UniGeneiHs.631660.

3D structure databases

ProteinModelPortaliQ3KR16.
SMRiQ3KR16.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi120497. 19 interactors.
IntActiQ3KR16. 2 interactors.
STRINGi9606.ENSP00000011684.

PTM databases

iPTMnetiQ3KR16.
PhosphoSitePlusiQ3KR16.

Polymorphism and mutation databases

BioMutaiPLEKHG6.
DMDMi332278231.

Proteomic databases

PaxDbiQ3KR16.
PeptideAtlasiQ3KR16.
PRIDEiQ3KR16.

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000011684; ENSP00000011684; ENSG00000008323. [Q3KR16-1]
ENST00000304581; ENSP00000304640; ENSG00000008323. [Q3KR16-3]
ENST00000396988; ENSP00000380185; ENSG00000008323. [Q3KR16-1]
ENST00000449001; ENSP00000393194; ENSG00000008323. [Q3KR16-2]
GeneIDi55200.
KEGGihsa:55200.
UCSCiuc001qnr.4. human. [Q3KR16-1]

Organism-specific databases

CTDi55200.
DisGeNETi55200.
GeneCardsiPLEKHG6.
HGNCiHGNC:25562. PLEKHG6.
HPAiHPA041459.
MIMi611743. gene.
neXtProtiNX_Q3KR16.
OpenTargetsiENSG00000008323.
PharmGKBiPA142671165.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG3521. Eukaryota.
ENOG410XRPT. LUCA.
GeneTreeiENSGT00510000046843.
HOGENOMiHOG000169625.
HOVERGENiHBG108257.
InParanoidiQ3KR16.
OMAiHLTEFQC.
OrthoDBiEOG091G00RK.
PhylomeDBiQ3KR16.
TreeFamiTF316755.

Enzyme and pathway databases

SIGNORiQ3KR16.

Miscellaneous databases

ChiTaRSiPLEKHG6. human.
GenomeRNAii55200.
PROiQ3KR16.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000008323.
CleanExiHS_PLEKHG6.
ExpressionAtlasiQ3KR16. baseline and differential.
GenevisibleiQ3KR16. HS.

Family and domain databases

Gene3Di1.20.900.10. 1 hit.
2.30.29.30. 1 hit.
InterProiIPR000219. DH-domain.
IPR011993. PH_dom-like.
IPR001849. PH_domain.
[Graphical view]
PfamiPF00621. RhoGEF. 1 hit.
[Graphical view]
SMARTiSM00233. PH. 1 hit.
SM00325. RhoGEF. 1 hit.
[Graphical view]
SUPFAMiSSF48065. SSF48065. 1 hit.
SSF50729. SSF50729. 1 hit.
PROSITEiPS50010. DH_2. 1 hit.
PS50003. PH_DOMAIN. 1 hit.
[Graphical view]
ProtoNetiSearch...

Entry informationi

Entry nameiPKHG6_HUMAN
AccessioniPrimary (citable) accession number: Q3KR16
Secondary accession number(s): Q3SWR1
, Q8N1P1, Q8WYY1, Q9H8F4, Q9NVK9
Entry historyi
Integrated into UniProtKB/Swiss-Prot: October 23, 2007
Last sequence update: May 3, 2011
Last modified: November 30, 2016
This is version 105 of the entry and version 3 of the sequence. [Complete history]
Entry statusiReviewed (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.

Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. Human chromosome 12
    Human chromosome 12: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. SIMILARITY comments
    Index of protein domains and families

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.