UniProtKB - Q15052 (ARHG6_HUMAN)
Protein
Rho guanine nucleotide exchange factor 6
Gene
ARHGEF6
Organism
Homo sapiens (Human)
Status
Functioni
Acts as a RAC1 guanine nucleotide exchange factor (GEF).
GO - Molecular functioni
- GTPase activator activity Source: UniProtKB
- guanyl-nucleotide exchange factor activity Source: Reactome
- Rho guanyl-nucleotide exchange factor activity Source: UniProtKB
GO - Biological processi
- apoptotic process Source: UniProtKB
- G protein-coupled receptor signaling pathway Source: Reactome
- JNK cascade Source: UniProtKB
- lamellipodium assembly Source: UniProtKB
- positive regulation of apoptotic process Source: Reactome
- regulation of small GTPase mediated signal transduction Source: Reactome
Keywordsi
Molecular function | Guanine-nucleotide releasing factor |
Enzyme and pathway databases
PathwayCommonsi | Q15052 |
Reactomei | R-HSA-193648, NRAGE signals death through JNK R-HSA-194840, Rho GTPase cycle R-HSA-416482, G alpha (12/13) signalling events R-HSA-446388, Regulation of cytoskeletal remodeling and cell spreading by IPP complex components R-HSA-8964616, G beta:gamma signalling through CDC42 |
Names & Taxonomyi
Protein namesi | Recommended name: Rho guanine nucleotide exchange factor 6Alternative name(s): Alpha-Pix COOL-2 PAK-interacting exchange factor alpha Rac/Cdc42 guanine nucleotide exchange factor 6 |
Gene namesi | Name:ARHGEF6 Synonyms:COOL2, KIAA0006, PIXA |
Organismi | Homo sapiens (Human) |
Taxonomic identifieri | 9606 [NCBI] |
Taxonomic lineagei | Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo |
Proteomesi |
|
Organism-specific databases
EuPathDBi | HostDB:ENSG00000129675.15 |
HGNCi | HGNC:685, ARHGEF6 |
MIMi | 300267, gene |
neXtProti | NX_Q15052 |
Subcellular locationi
Other locations
- lamellipodium By similarity
Cytosol
- cytosol Source: Reactome
Other locations
- lamellipodium Source: UniProtKB
Keywords - Cellular componenti
Cell projectionPathology & Biotechi
Organism-specific databases
DisGeNETi | 9459 |
MalaCardsi | ARHGEF6 |
OpenTargetsi | ENSG00000129675 |
Orphaneti | 777, X-linked non-syndromic intellectual disability |
PharmGKBi | PA24976 |
Miscellaneous databases
Pharosi | Q15052, Tbio |
Polymorphism and mutation databases
BioMutai | ARHGEF6 |
DMDMi | 17371603 |
PTM / Processingi
Molecule processing
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
ChainiPRO_0000080917 | 1 – 776 | Rho guanine nucleotide exchange factor 6Add BLAST | 776 |
Amino acid modifications
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Modified residuei | 126 | PhosphoserineCombined sources | 1 | |
Modified residuei | 133 | PhosphothreonineCombined sources | 1 | |
Modified residuei | 144 | PhosphoserineCombined sources | 1 | |
Modified residuei | 150 | PhosphoserineCombined sources | 1 | |
Modified residuei | 225 | PhosphoserineCombined sources | 1 | |
Modified residuei | 488 | PhosphoserineBy similarity | 1 | |
Modified residuei | 640 | PhosphoserineCombined sources | 1 | |
Modified residuei | 684 | PhosphoserineCombined sources | 1 |
Keywords - PTMi
PhosphoproteinProteomic databases
CPTACi | CPTAC-1735 CPTAC-1736 |
EPDi | Q15052 |
jPOSTi | Q15052 |
MassIVEi | Q15052 |
MaxQBi | Q15052 |
PaxDbi | Q15052 |
PeptideAtlasi | Q15052 |
PRIDEi | Q15052 |
ProteomicsDBi | 60406 [Q15052-1] 60407 [Q15052-2] |
PTM databases
GlyGeni | Q15052, 1 site, 1 O-linked glycan (1 site) |
iPTMneti | Q15052 |
PhosphoSitePlusi | Q15052 |
Expressioni
Tissue specificityi
Ubiquitous.
Gene expression databases
Bgeei | ENSG00000129675, Expressed in adipose tissue and 243 other tissues |
Genevisiblei | Q15052, HS |
Organism-specific databases
HPAi | ENSG00000129675, Low tissue specificity |
Interactioni
Subunit structurei
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.
By similarity2 PublicationsBinary interactionsi
Hide detailsQ15052
GO - Molecular functioni
- guanyl-nucleotide exchange factor activity Source: Reactome
- Rho guanyl-nucleotide exchange factor activity Source: UniProtKB
Protein-protein interaction databases
BioGRIDi | 114847, 49 interactors |
CORUMi | Q15052 |
DIPi | DIP-42694N |
IntActi | Q15052, 53 interactors |
MINTi | Q15052 |
STRINGi | 9606.ENSP00000250617 |
Miscellaneous databases
RNActi | Q15052, protein |
Structurei
Secondary structure
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details3D structure databases
BMRBi | Q15052 |
SMRi | Q15052 |
ModBasei | Search... |
PDBe-KBi | Search... |
Miscellaneous databases
EvolutionaryTracei | Q15052 |
Family & Domainsi
Domains and Repeats
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Domaini | 1 – 111 | Calponin-homology (CH)PROSITE-ProRule annotationAdd BLAST | 111 | |
Domaini | 160 – 219 | SH3PROSITE-ProRule annotationAdd BLAST | 60 | |
Domaini | 241 – 421 | DHPROSITE-ProRule annotationAdd BLAST | 181 | |
Domaini | 443 – 548 | PHPROSITE-ProRule annotationAdd BLAST | 106 |
Keywords - Domaini
SH3 domainPhylogenomic databases
eggNOGi | KOG2070, Eukaryota |
GeneTreei | ENSGT00940000158723 |
HOGENOMi | CLU_017010_1_1_1 |
InParanoidi | Q15052 |
OMAi | IMFFEVT |
OrthoDBi | 172471at2759 |
PhylomeDBi | Q15052 |
TreeFami | TF316105 |
Family and domain databases
CDDi | cd00014, CH, 1 hit cd00160, RhoGEF, 1 hit cd12060, SH3_alphaPIX, 1 hit |
Gene3Di | 1.10.418.10, 1 hit 1.20.900.10, 1 hit 2.30.29.30, 1 hit |
InterProi | View protein in InterPro IPR035788, AlphaPIX_SH3 IPR001715, CH-domain IPR036872, CH_dom_sf IPR035899, DBL_dom_sf IPR000219, DH-domain IPR032409, GEF_CC IPR011993, PH-like_dom_sf IPR001849, PH_domain IPR036028, SH3-like_dom_sf IPR001452, SH3_domain IPR003096, SM22_calponin |
Pfami | View protein in Pfam PF16523, betaPIX_CC, 1 hit PF00307, CH, 1 hit PF00169, PH, 1 hit PF00621, RhoGEF, 1 hit PF07653, SH3_2, 1 hit |
PRINTSi | PR00452, SH3DOMAIN PR00888, SM22CALPONIN |
SMARTi | View protein in SMART SM00033, CH, 1 hit SM00233, PH, 1 hit SM00325, RhoGEF, 1 hit SM00326, SH3, 1 hit |
SUPFAMi | SSF47576, SSF47576, 1 hit SSF48065, SSF48065, 1 hit SSF50044, SSF50044, 1 hit |
PROSITEi | View protein in PROSITE PS50021, CH, 1 hit PS50010, DH_2, 1 hit PS50003, PH_DOMAIN, 1 hit PS50002, SH3, 1 hit |
s (2)i Sequence
Sequence statusi: Complete.
This entry describes 2 produced by isoformsialternative splicing. AlignAdd to basketIsoform 1 (identifier: Q15052-1) [UniParc]FASTAAdd to basket
This isoform has been chosen as the sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry. canonicali
10 20 30 40 50
MNPEEQIVTW LISLGVLESP KKTICDPEEF LKSSLKNGVV LCKLINRLMP
60 70 80 90 100
GSVEKFCLDP QTEADCINNI NDFLKGCATL QVEIFDPDDL YSGVNFSKVL
110 120 130 140 150
STLLAVNKAT EDQLSERPCG RSSSLSAANT SQTNPQGAVS STVSGLQRQS
160 170 180 190 200
KTVEMTENGS HQLIVKARFN FKQTNEDELS VCKGDIIYVT RVEEGGWWEG
210 220 230 240 250
TLNGRTGWFP SNYVREIKSS ERPLSPKAVK GFETAPLTKN YYTVVLQNIL
260 270 280 290 300
DTEKEYAKEL QSLLVTYLRP LQSNNNLSTV EVTSLLGNFE EVCTFQQTLC
310 320 330 340 350
QALEECSKFP ENQHKVGGCL LSLMPHFKSM YLAYCANHPS AVNVLTQHSD
360 370 380 390 400
ELEQFMENQG ASSPGILILT TNLSKPFMRL EKYVTLLQEL ERHMEDTHPD
410 420 430 440 450
HQDILKAIVA FKTLMGQCQD LRKRKQLELQ ILSEPIQAWE GEDIKNLGNV
460 470 480 490 500
IFMSQVMVQY GACEEKEERY LMLFSNVLIM LSASPRMSGF IYQGKIPIAG
510 520 530 540 550
TVVTRLDEIE GNDCTFEITG NTVERIVVHC NNNQDFQEWL EQLNRLIRGP
560 570 580 590 600
ASCSSLSKTS SSSCSAHSSF SSTGQPRGPL EPPQIIKPWS LSCLRPAPPL
610 620 630 640 650
RPSAALGYKE RMSYILKESS KSPKTMKKFL HKRKTERKPS EEEYVIRKST
660 670 680 690 700
AALEEDAQIL KVIEAYCTSA NFQQGHGSST RKDSIPQVLL PEEEKLIIEE
710 720 730 740 750
TRSNGQTIME EKSLVDTVYA LKDEVRELKQ ENKRMKQCLE EELKSRRDLE
760 770
KLVRRLLKQT DECIRGESSS KTSILP
Sequence cautioni
The sequence BAA02796 differs from that shown. Reason: Erroneous initiation.Curated
Experimental Info
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Sequence conflicti | 199 | E → G in CAD97632 (PubMed:17974005).Curated | 1 |
Natural variant
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_051981 | 297 | Q → H. Corresponds to variant dbSNP:rs5974620EnsemblClinVar. | 1 |
Alternative sequence
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Alternative sequenceiVSP_015782 | 1 – 154 | Missing in isoform 2. 2 PublicationsAdd BLAST | 154 |
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi Links Updated | AK291742 mRNA Translation: BAF84431.1 AK294929 mRNA Translation: BAH11929.1 BX537390 mRNA Translation: CAD97632.1 AL683813 Genomic DNA No translation available. AL135783 Genomic DNA No translation available. 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 |
CCDSi | CCDS14660.1 [Q15052-1] CCDS78509.1 [Q15052-2] |
RefSeqi | NP_001293106.1, NM_001306177.1 [Q15052-2] NP_004831.1, NM_004840.2 [Q15052-1] |
Genome annotation databases
Ensembli | ENST00000250617; ENSP00000250617; ENSG00000129675 [Q15052-1] ENST00000370620; ENSP00000359654; ENSG00000129675 [Q15052-2] ENST00000370622; ENSP00000359656; ENSG00000129675 [Q15052-2] |
GeneIDi | 9459 |
KEGGi | hsa:9459 |
UCSCi | uc004fab.5, human [Q15052-1] |
Keywords - Coding sequence diversityi
Alternative splicing, PolymorphismSimilar proteinsi
Cross-referencesi
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi Links Updated | AK291742 mRNA Translation: BAF84431.1 AK294929 mRNA Translation: BAH11929.1 BX537390 mRNA Translation: CAD97632.1 AL683813 Genomic DNA No translation available. AL135783 Genomic DNA No translation available. 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 |
CCDSi | CCDS14660.1 [Q15052-1] CCDS78509.1 [Q15052-2] |
RefSeqi | NP_001293106.1, NM_001306177.1 [Q15052-2] NP_004831.1, NM_004840.2 [Q15052-1] |
3D structure databases
Select the link destinations: PDBei RCSB PDBi PDBji Links Updated | PDB entry | Method | Resolution (Å) | Chain | Positions | PDBsum |
1UJY | NMR | - | A | 160-222 | [»] | |
1WYR | NMR | - | A | 4-111 | [»] | |
BMRBi | Q15052 | |||||
SMRi | Q15052 | |||||
ModBasei | Search... | |||||
PDBe-KBi | Search... |
Protein-protein interaction databases
BioGRIDi | 114847, 49 interactors |
CORUMi | Q15052 |
DIPi | DIP-42694N |
IntActi | Q15052, 53 interactors |
MINTi | Q15052 |
STRINGi | 9606.ENSP00000250617 |
PTM databases
GlyGeni | Q15052, 1 site, 1 O-linked glycan (1 site) |
iPTMneti | Q15052 |
PhosphoSitePlusi | Q15052 |
Polymorphism and mutation databases
BioMutai | ARHGEF6 |
DMDMi | 17371603 |
Proteomic databases
CPTACi | CPTAC-1735 CPTAC-1736 |
EPDi | Q15052 |
jPOSTi | Q15052 |
MassIVEi | Q15052 |
MaxQBi | Q15052 |
PaxDbi | Q15052 |
PeptideAtlasi | Q15052 |
PRIDEi | Q15052 |
ProteomicsDBi | 60406 [Q15052-1] 60407 [Q15052-2] |
Protocols and materials databases
Antibodypediai | 515, 140 antibodies |
Genome annotation databases
Ensembli | ENST00000250617; ENSP00000250617; ENSG00000129675 [Q15052-1] ENST00000370620; ENSP00000359654; ENSG00000129675 [Q15052-2] ENST00000370622; ENSP00000359656; ENSG00000129675 [Q15052-2] |
GeneIDi | 9459 |
KEGGi | hsa:9459 |
UCSCi | uc004fab.5, human [Q15052-1] |
Organism-specific databases
CTDi | 9459 |
DisGeNETi | 9459 |
EuPathDBi | HostDB:ENSG00000129675.15 |
GeneCardsi | ARHGEF6 |
HGNCi | HGNC:685, ARHGEF6 |
HPAi | ENSG00000129675, Low tissue specificity |
MalaCardsi | ARHGEF6 |
MIMi | 300267, gene |
neXtProti | NX_Q15052 |
OpenTargetsi | ENSG00000129675 |
Orphaneti | 777, X-linked non-syndromic intellectual disability |
PharmGKBi | PA24976 |
HUGEi | Search... |
GenAtlasi | Search... |
Phylogenomic databases
eggNOGi | KOG2070, Eukaryota |
GeneTreei | ENSGT00940000158723 |
HOGENOMi | CLU_017010_1_1_1 |
InParanoidi | Q15052 |
OMAi | IMFFEVT |
OrthoDBi | 172471at2759 |
PhylomeDBi | Q15052 |
TreeFami | TF316105 |
Enzyme and pathway databases
PathwayCommonsi | Q15052 |
Reactomei | R-HSA-193648, NRAGE signals death through JNK R-HSA-194840, Rho GTPase cycle R-HSA-416482, G alpha (12/13) signalling events R-HSA-446388, Regulation of cytoskeletal remodeling and cell spreading by IPP complex components R-HSA-8964616, G beta:gamma signalling through CDC42 |
Miscellaneous databases
BioGRID-ORCSi | 9459, 5 hits in 473 CRISPR screens |
ChiTaRSi | ARHGEF6, human |
EvolutionaryTracei | Q15052 |
GeneWikii | ARHGEF6 |
GenomeRNAii | 9459 |
Pharosi | Q15052, Tbio |
PROi | PR:Q15052 |
RNActi | Q15052, protein |
SOURCEi | Search... |
Gene expression databases
Bgeei | ENSG00000129675, Expressed in adipose tissue and 243 other tissues |
Genevisiblei | Q15052, HS |
Family and domain databases
CDDi | cd00014, CH, 1 hit cd00160, RhoGEF, 1 hit cd12060, SH3_alphaPIX, 1 hit |
Gene3Di | 1.10.418.10, 1 hit 1.20.900.10, 1 hit 2.30.29.30, 1 hit |
InterProi | View protein in InterPro IPR035788, AlphaPIX_SH3 IPR001715, CH-domain IPR036872, CH_dom_sf IPR035899, DBL_dom_sf IPR000219, DH-domain IPR032409, GEF_CC IPR011993, PH-like_dom_sf IPR001849, PH_domain IPR036028, SH3-like_dom_sf IPR001452, SH3_domain IPR003096, SM22_calponin |
Pfami | View protein in Pfam PF16523, betaPIX_CC, 1 hit PF00307, CH, 1 hit PF00169, PH, 1 hit PF00621, RhoGEF, 1 hit PF07653, SH3_2, 1 hit |
PRINTSi | PR00452, SH3DOMAIN PR00888, SM22CALPONIN |
SMARTi | View protein in SMART SM00033, CH, 1 hit SM00233, PH, 1 hit SM00325, RhoGEF, 1 hit SM00326, SH3, 1 hit |
SUPFAMi | SSF47576, SSF47576, 1 hit SSF48065, SSF48065, 1 hit SSF50044, SSF50044, 1 hit |
PROSITEi | View protein in PROSITE PS50021, CH, 1 hit PS50010, DH_2, 1 hit PS50003, PH_DOMAIN, 1 hit PS50002, SH3, 1 hit |
ProtoNeti | Search... |
MobiDBi | Search... |
Entry informationi
Entry namei | ARHG6_HUMAN | |
Accessioni | Q15052Primary (citable) accession number: Q15052 Secondary accession number(s): A6NMW9 Q86XH0 | |
Entry historyi | Integrated into UniProtKB/Swiss-Prot: | September 26, 2001 |
Last sequence update: | September 26, 2001 | |
Last modified: | December 2, 2020 | |
This is version 214 of the entry and version 2 of the sequence. See complete history. | ||
Entry statusi | 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. |
Miscellaneousi
Keywords - Technical termi
3D-structure, Reference proteomeDocuments
- 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 - 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