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UniProtKB - Q15052 (ARHG6_HUMAN)

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Protein

Rho guanine nucleotide exchange factor 6

Gene

ARHGEF6

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

Functioni

Acts as a RAC1 guanine nucleotide exchange factor (GEF).

GO - Molecular functioni

View the complete GO annotation on QuickGO ...

GO - Biological processi

View the complete GO annotation on QuickGO ...

Keywordsi

Molecular functionGuanine-nucleotide releasing factor

Enzyme and pathway databases

ReactomeiR-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

Names & Taxonomyi

Protein namesi
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 namesi
Name:ARHGEF6
Synonyms:COOL2, KIAA0006, PIXA
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo
Proteomesi
  • UP000005640 Componenti: Chromosome X

Organism-specific databases

EuPathDBiHostDB:ENSG00000129675.15
HGNCiHGNC:685 ARHGEF6
MIMi300267 gene
neXtProtiNX_Q15052

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Keywords - Cellular componenti

Cell projection

Pathology & Biotechi

Involvement in diseasei

Mental retardation, X-linked 46 (MRX46)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA disorder characterized by significantly below average general intellectual functioning associated with impairments in adaptive 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.
See also OMIM:300436

Keywords - Diseasei

Mental retardation

Organism-specific databases

DisGeNETi9459
MalaCardsiARHGEF6
MIMi300436 phenotype
OpenTargetsiENSG00000129675
Orphaneti777 X-linked non-syndromic intellectual disability
PharmGKBiPA24976

Polymorphism and mutation databases

BioMutaiARHGEF6
DMDMi17371603

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00000809171 – 776Rho guanine nucleotide exchange factor 6Add BLAST776

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei126PhosphoserineCombined sources1
Modified residuei133PhosphothreonineCombined sources1
Modified residuei144PhosphoserineCombined sources1
Modified residuei150PhosphoserineCombined sources1
Modified residuei225PhosphoserineCombined sources1
Modified residuei488PhosphoserineBy similarity1
Modified residuei640PhosphoserineCombined sources1
Modified residuei684PhosphoserineCombined sources1

Keywords - PTMi

Phosphoprotein

Proteomic databases

EPDiQ15052
MaxQBiQ15052
PaxDbiQ15052
PeptideAtlasiQ15052
PRIDEiQ15052
ProteomicsDBi60406
60407 [Q15052-2]

PTM databases

iPTMnetiQ15052
PhosphoSitePlusiQ15052

Expressioni

Tissue specificityi

Ubiquitous.

Gene expression databases

BgeeiENSG00000129675
CleanExiHS_ARHGEF6
GenevisibleiQ15052 HS

Organism-specific databases

HPAiHPA003578

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 Publications

Binary interactionsi

Show more details

GO - Molecular functioni

View the complete GO annotation on QuickGO ...

Protein-protein interaction databases

BioGridi114847, 34 interactors
CORUMiQ15052
DIPiDIP-42694N
IntActiQ15052, 28 interactors
MINTiQ15052
STRINGi9606.ENSP00000250617

Structurei

Secondary structure

1776
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Helixi4 – 14Combined sources11
Helixi27 – 37Combined sources11
Helixi39 – 48Combined sources10
Helixi63 – 80Combined sources18
Helixi87 – 91Combined sources5
Helixi96 – 110Combined sources15
Beta strandi163 – 166Combined sources4
Beta strandi187 – 191Combined sources5
Beta strandi194 – 196Combined sources3
Beta strandi198 – 202Combined sources5
Beta strandi205 – 209Combined sources5
Turni211 – 213Combined sources3
Beta strandi214 – 216Combined sources3
Helixi219 – 222Combined sources4

3D structure databases

ProteinModelPortaliQ15052
SMRiQ15052
ModBaseiSearch...
MobiDBiSearch...

Miscellaneous databases

EvolutionaryTraceiQ15052

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Domaini1 – 111Calponin-homology (CH)PROSITE-ProRule annotationAdd BLAST111
Domaini160 – 219SH3PROSITE-ProRule annotationAdd BLAST60
Domaini241 – 421DHPROSITE-ProRule annotationAdd BLAST181
Domaini443 – 548PHPROSITE-ProRule annotationAdd BLAST106

Keywords - Domaini

SH3 domain

Phylogenomic databases

eggNOGiKOG2070 Eukaryota
ENOG410XNNP LUCA
GeneTreeiENSGT00920000148946
HOGENOMiHOG000231381
HOVERGENiHBG050569
InParanoidiQ15052
KOiK05729
OMAiFQEWLEQ
OrthoDBiEOG091G04XA
PhylomeDBiQ15052
TreeFamiTF316105

Family and domain databases

CDDicd00014 CH, 1 hit
cd00160 RhoGEF, 1 hit
cd12060 SH3_alphaPIX, 1 hit
Gene3Di1.10.418.10, 1 hit
1.20.900.10, 1 hit
2.30.29.30, 1 hit
InterProiView 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
PfamiView protein in Pfam
PF16523 betaPIX_CC, 1 hit
PF00307 CH, 1 hit
PF00169 PH, 1 hit
PF00621 RhoGEF, 1 hit
PF14604 SH3_9, 1 hit
PRINTSiPR00452 SH3DOMAIN
PR00888 SM22CALPONIN
SMARTiView protein in SMART
SM00033 CH, 1 hit
SM00233 PH, 1 hit
SM00325 RhoGEF, 1 hit
SM00326 SH3, 1 hit
SUPFAMiSSF47576 SSF47576, 1 hit
SSF48065 SSF48065, 1 hit
SSF50044 SSF50044, 1 hit
PROSITEiView protein in PROSITE
PS50021 CH, 1 hit
PS50010 DH_2, 1 hit
PS50003 PH_DOMAIN, 1 hit
PS50002 SH3, 1 hit

Sequences (2)i

Sequence statusi: Complete.

This entry describes 2 isoformsi produced by alternative splicing. AlignAdd to basket

Isoform 1 (identifier: Q15052-1) [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
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
Length:776
Mass (Da):87,499
Last modified:September 26, 2001 - v2
Checksum:i5D2622314E46341B
GO
Isoform 2 (identifier: Q15052-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-154: Missing.

Show »
Length:622
Mass (Da):70,791
Checksum:iB336793DC9A235ED
GO

Sequence cautioni

The sequence BAA02796 differs from that shown. Reason: Erroneous initiation.Curated

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti199E → G in CAD97632 (PubMed:17974005).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_051981297Q → H. Corresponds to variant dbSNP:rs5974620EnsemblClinVar.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_0157821 – 154Missing in isoform 2. 2 PublicationsAdd BLAST154

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
CCDSiCCDS14660.1 [Q15052-1]
CCDS78509.1 [Q15052-2]
RefSeqiNP_001293106.1, NM_001306177.1 [Q15052-2]
NP_004831.1, NM_004840.2 [Q15052-1]
UniGeneiHs.522795

Genome annotation databases

EnsembliENST00000250617; ENSP00000250617; ENSG00000129675 [Q15052-1]
ENST00000370620; ENSP00000359654; ENSG00000129675 [Q15052-2]
ENST00000370622; ENSP00000359656; ENSG00000129675 [Q15052-2]
GeneIDi9459
KEGGihsa:9459
UCSCiuc004fab.5 human [Q15052-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Similar proteinsi

Entry informationi

Entry nameiARHG6_HUMAN
AccessioniPrimary (citable) accession number: Q15052
Secondary accession number(s): A6NMW9
, A8K6S7, B1AL37, Q15396, Q5JQ66, Q7Z3W1, Q86XH0
Entry historyiIntegrated into UniProtKB/Swiss-Prot: September 26, 2001
Last sequence update: September 26, 2001
Last modified: July 18, 2018
This is version 198 of the entry and version 2 of the sequence. See 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

3D-structure, Complete proteome, Reference proteome

Documents

  1. Human chromosome X
    Human chromosome X: 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. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references

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