ARHGEF18
Rho guanine nucleotide exchange factor 18
Also known as: ARHGI_HUMAN, KIAA0521, MGC15913, P114-RhoGEF, p114RhoGEF
Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene
Protein identityUniProt · HPA
- UniProt accession
- Q6ZSZ5
- Gene
- ARHGEF18
- Ensembl
- ENSG00000104880
- Chromosome
- 19
- Canonical length
- 1361 aa
- Protein class
- Disease related genes, Human disease related genes, Predicted intracellular proteins
- Subcellular location
- Plasma membrane,Cytosol
OverviewNCBI Gene
Rho GTPases are GTP binding proteins that regulate a wide spectrum of cellular functions. These cellular processes include cytoskeletal rearrangements, gene transcription, cell growth and motility. Activation of Rho GTPases is under the direct control of guanine nucleotide exchange factors (GEFs). The protein encoded by this gene is a guanine nucleotide exchange factor and belongs to the Rho GTPase GEF family. Family members share a common feature, a Dbl (DH) homology domain followed by a pleckstrin (PH) homology domain. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Nov 2018]
Canonical amino-acid sequenceUniProt
1361 residues, UniProt reviewed canonical sequence.
>Q6ZSZ5|ARHGEF18
1 MGDDQEDDFP RRLSESMEDL SLDLGALQGS EYLQDLGLGA PSHSQPGETP DSRPTGEEPG
61 RDSLFSSLAG SQDLSRRRSW ERSRSCSESW RRLSLDASAV DEEPCLPRTL ASLALNLPGG
121 GLKTWTQGCL SGGGTPAESP GKECDSPKKR GRSRSVPVSF YEIRSPEISP GLEVPTPPVQ
181 GLEPPVLECM EKDHVEPDHV LIVQQVLQEL RQYHGARQRA CMSASPGGAH SNLTWFEFLS
241 ESEDGAGKNE KSDKSTSVKR RLSCLRSRVT RQKEKGKSPA HLKDKGQDAR ERRECVNGHQ
301 LLQGTFSGPS SCPLCGKPFL SSASLKEHPR GTLLSDGSPA LSRNVGMTVS QKGGPQPTPS
361 PAGPGTQLGP ITGEMDEADS AFLKFKQTAD DSLSLTSPNT ESIFVEDPYT ASLRSEIESD
421 GHEFEAESWS LAVDAAYAKK QKREVVKRQD VLYELMQTEV HHVRTLKIML KVYSRALQEE
481 LQFSSKAIGR LFPCADDLLE THSHFLARLK ERRQESLEEG SDRNYVIQKI GDLLVQQFSG
541 ENGERMKEKY GVFCSGHNEA VSHYKLLLQQ NKKFQNLIKK IGNFSIVRRL GVQECILLVT
601 QRITKYPVLV ERIIQNTEAG TEDYEDLTQA LNLIKDIISQ VDAKVSECEK GQRLREIAGK
661 MDLKSSSKLK NGLTFRKEDM LQRQLHLEGM LCWKTTSGRL KDILAILLTD VLLLLQEKDQ
721 KYVFASVDSK PPVISLQKLI VREVANEEKA MFLISASLQG PEMYEIYTSS KEDRNAWMAH
781 IQRAVESCPD EEEGPFSLPE EERKVVEARA TRLRDFQERL SMKDQLIAQS LLEKQQIYLE
841 MAEMGGLEDL PQPRGLFRGG DPSETLQGEL ILKSAMSEIE GIQSLICRQL GSANGQAEDG
901 GSSTGPPRRA ETFAGYDCTN SPTKNGSFKK KVSSTDPRPR DWRGPPNSPD LKLSDSDIPG
961 SSEESPQVVE APGTESDPRL PTVLESELVQ RIQTLSQLLL NLQAVIAHQD SYVETQRAAI
1021 QEREKQFRLQ STRGNLLLEQ ERQRNFEKQR EERAALEKLQ SQLRHEQQRW ERERQWQHQE
1081 LERAGARLQE REGEARQLRE RLEQERAELE RQRQAYQHDL ERLREAQRAV ERERERLELL
1141 RRLKKQNTAP GALPPDTLAE AQPPSHPPSF NGEGLEGPRV SMLPSGVGPE YAERPEVARR
1201 DSAPTENRLA KSDVPIQLLS ATNQFQRQAA VQQQIPTKLA ASTKGGKDKG GKSRGSQRWE
1261 SSASFDLKQQ LLLNKLMGKD ESTSRNRRSL SPILPGRHSP APPPDPGFPA PSPPPADSPS
1321 EGFSLKAGGT ALLPGPPAPS PLPATPLSAK EDASKEDVIF FLocalizationUniProt · AlphaFold · HPA
Whether an antibody against ARHGEF18 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
- Cell surface
- Secreted
- No
- Transmembrane segments
- 0
- Mean surface accessibility (rSASA)
- 0.52
- Highest tissue expression
- 35 nTPM
Expression across tissuesHPA
Tissue
- spleen: 35 nTPM
- small intestine: 32 nTPM
- thymus: 31 nTPM
- lymph node: 28 nTPM
- colon: 26 nTPM
- bone marrow: 26 nTPM
Single-cell type
- thymocytes: 627 nCPM
- b-cells: 600 nCPM
- monocyte progenitors: 492 nCPM
- neutrophil progenitors: 402 nCPM
- neutrophils: 336 nCPM
- esophageal apical cells: 270 nCPM
Immune cell
- eosinophil: 23 nTPM
- neutrophil: 13 nTPM
- naive B-cell: 12 nTPM
- memory B-cell: 8.9 nTPM
- non-classical monocyte: 7 nTPM
- basophil: 6.4 nTPM
Brain region
- white matter: 36 nTPM
- basal ganglia: 33 nTPM
- midbrain: 32 nTPM
- cerebral cortex: 31 nTPM
- medulla oblongata: 31 nTPM
- thalamus: 30 nTPM
DiseaseUniProt · ClinVar · IEDB · PubMed
Four sources answering four different questions about ARHGEF18.
Disease | AllUniProt
Conditions ARHGEF18 is implicated in, by any mechanism.
- Retinitis pigmentosa 78 (RP78) MIM:617433
Disease | GeneticClinVar
29 pathogenic / likely-pathogenic of 1,112 ClinVar records.
Conditions with pathogenic or likely-pathogenic variants.
- Retinitis pigmentosa 78
- Retinal dystrophy
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)
- 0.46
- gnomAD pLI
- 0
- gnomAD missense Z
- 2.25
- DepMap mean gene effect
- 0.01
- DepMap dependency class
- selective
Cancer expressionTCGA
Across TCGA tumor cohorts, this protein is over-expressed in roughly 5% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).
OntologyGO
Biological processes
- actin cytoskeleton organization
- negative regulation of stress fiber assembly
- protein localization to cell-cell junction
- regulation of cell shape
- regulation of Rho protein signal transduction
- small GTPase-mediated signal transduction
Molecular functions
Cellular components
Protein domainsUniProt · Pfam · InterPro
- Dbl homology domain
- Pleckstrin homology domain
- PH-like domain superfamily
- Zinc finger C2H2-type
- Dbl homology (DH) domain superfamily
- ARHGEF1-like, PH domain
- RhoGEF domain
- PH domain
- ARHGEF18, PH domain
- Rho guanine nucleotide exchange factor 18
KeywordsUniProt
InteractionsUniProt · HPA
Protein binding partners of ARHGEF18 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 ARHGEF18 as an antibody target. Whether an autoantibody or antibody against ARHGEF18 could matter depends on whether native ARHGEF18 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.
ARHGEF18 is annotated at the cell surface, where native ARHGEF18 is exposed to circulating antibodies and is a prime autoantibody target that could block, deplete, or overstimulate it.
Annotation status
The present source text does not explicitly label ARHGEF18 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.
Loading the interactive Seroatlas protein explorer...