ARHGEF6
Rho guanine nucleotide exchange factor 6
Also known as: alpha-PIX, alphaPIX, ARHG6_HUMAN, Cool-2, Cool2, KIAA0006, MRX46
Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene
Protein identityUniProt · HPA
- UniProt accession
- Q15052
- Gene
- ARHGEF6
- Ensembl
- ENSG00000129675
- Chromosome
- X
- Canonical length
- 776 aa
- Protein class
- Cancer-related genes, Predicted intracellular proteins
- Subcellular location
- Plasma membrane,Cytosol
OverviewNCBI Gene
Rho GTPases play a fundamental role in numerous cellular processes that are initiated by extracellular stimuli that work through G protein coupled receptors. The encoded protein belongs to a family of cytoplasmic proteins that activate the Ras-like family of Rho proteins by exchanging bound GDP for GTP. It may form a complex with G proteins and stimulate Rho-dependent signals. This protein is activated by PI3-kinase. Mutations in this gene can cause X-chromosomal non-specific cognitive disability. [provided by RefSeq, Jul 2008]
Canonical amino-acid sequenceUniProt
776 residues, UniProt reviewed canonical sequence.
>Q15052|ARHGEF6
1 MNPEEQIVTW LISLGVLESP KKTICDPEEF LKSSLKNGVV LCKLINRLMP GSVEKFCLDP
61 QTEADCINNI NDFLKGCATL QVEIFDPDDL YSGVNFSKVL STLLAVNKAT EDQLSERPCG
121 RSSSLSAANT SQTNPQGAVS STVSGLQRQS KTVEMTENGS HQLIVKARFN FKQTNEDELS
181 VCKGDIIYVT RVEEGGWWEG TLNGRTGWFP SNYVREIKSS ERPLSPKAVK GFETAPLTKN
241 YYTVVLQNIL DTEKEYAKEL QSLLVTYLRP LQSNNNLSTV EVTSLLGNFE EVCTFQQTLC
301 QALEECSKFP ENQHKVGGCL LSLMPHFKSM YLAYCANHPS AVNVLTQHSD ELEQFMENQG
361 ASSPGILILT TNLSKPFMRL EKYVTLLQEL ERHMEDTHPD HQDILKAIVA FKTLMGQCQD
421 LRKRKQLELQ ILSEPIQAWE GEDIKNLGNV IFMSQVMVQY GACEEKEERY LMLFSNVLIM
481 LSASPRMSGF IYQGKIPIAG TVVTRLDEIE GNDCTFEITG NTVERIVVHC NNNQDFQEWL
541 EQLNRLIRGP ASCSSLSKTS SSSCSAHSSF SSTGQPRGPL EPPQIIKPWS LSCLRPAPPL
601 RPSAALGYKE RMSYILKESS KSPKTMKKFL HKRKTERKPS EEEYVIRKST AALEEDAQIL
661 KVIEAYCTSA NFQQGHGSST RKDSIPQVLL PEEEKLIIEE TRSNGQTIME EKSLVDTVYA
721 LKDEVRELKQ ENKRMKQCLE EELKSRRDLE KLVRRLLKQT DECIRGESSS KTSILPLocalizationUniProt · AlphaFold · HPA
Whether an antibody against ARHGEF6 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.
- Antibody reachability
- Intracellular
- Secreted
- No
- Transmembrane segments
- 0
- Mean surface accessibility (rSASA)
- 0.43
- Highest tissue expression
- 64 nTPM
Expression across tissuesHPA
Tissue
- skeletal muscle: 64 nTPM
- tongue: 51 nTPM
- thymus: 48 nTPM
- placenta: 44 nTPM
- adipose tissue: 41 nTPM
- lymph node: 39 nTPM
Single-cell type
- microglia: 251 nCPM
- mast cells: 249 nCPM
- adipocytes: 206 nCPM
- neutrophil progenitors: 197 nCPM
- myonuclei: 184 nCPM
- hematopoietic stem cells: 148 nCPM
Immune cell
- eosinophil: 71 nTPM
- basophil: 57 nTPM
- T-reg: 22 nTPM
- myeloid DC: 19 nTPM
- intermediate monocyte: 19 nTPM
- classical monocyte: 16 nTPM
Brain region
- white matter: 56 nTPM
- midbrain: 55 nTPM
- spinal cord: 54 nTPM
- medulla oblongata: 50 nTPM
- hypothalamus: 49 nTPM
- thalamus: 49 nTPM
DiseaseUniProt · ClinVar · IEDB · PubMed
Four sources answering four different questions about ARHGEF6.
Disease | ImmuneIEDB
Conditions an epitope on ARHGEF6 was assayed in.
- narcolepsy B cell
- multiple sclerosis B cell
- peripheral nervous system disease B cell
Genetic constraint and essentialitygnomAD · DepMap
Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.
- gnomAD LOEUF (loss-of-function intolerance)
- 0.14
- gnomAD pLI
- 1
- gnomAD missense Z
- 1.35
- DepMap mean gene effect
- 0.12
- DepMap dependency class
- none
Cancer expressionTCGA
Across TCGA tumor cohorts, this protein is over-expressed in roughly 3% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).
OntologyGO
Biological processes
Molecular functions
Cellular components
Protein domainsUniProt · Pfam · InterPro
- Dbl homology domain
- SH3 domain
- Calponin homology domain
- Pleckstrin homology domain
- Smooth muscle protein/calponin
- PH-like domain superfamily
- Dbl homology (DH) domain superfamily
- SH3-like domain superfamily
- CH domain superfamily
- RhoGEF 6/7, PH domain
- PH domain
- Calponin homology (CH) domain
- RhoGEF domain
- Variant SH3 domain
- Unstructured region two on RhoGEF 6 and 7
- Unstructured region one on RhoGEF 6 and 7
- Rho guanine nucleotide exchange factor 6/7, coiled-coil domain
- Rho guanine nucleotide exchange factor 6, SH3 domain
- betaPIX coiled coil
KeywordsUniProt
InteractionsUniProt · HPA
Protein binding partners of ARHGEF6 in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.
Antibody and autoantibody relevanceSeroatlas analysis
Seroatlas reads ARHGEF6 as an antibody target. Whether an autoantibody or antibody against ARHGEF6 could matter depends on whether native ARHGEF6 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.
ARHGEF6 is annotated as predominantly intracellular. Intracellular proteins are common autoantibody markers, becoming visible to the immune system after cell injury or altered processing, but are usually markers of disease rather than direct drivers.
Annotation status
The present source text does not explicitly label ARHGEF6 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.
Loading the interactive Seroatlas protein explorer...