Seroatlas · Human Serome Atlas

ARHGEF1

Rho guanine nucleotide exchange factor 1

Also known as: ARHG1_HUMAN, LBCL2, P115-RHOGEF, SUB1.5

Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene

Protein identityUniProt · HPA

UniProt accession: Q92888
Gene: ARHGEF1
Ensembl: ENSG00000076928
Chromosome: 19
Canonical length: 912 aa
Protein class: Disease related genes, Human disease related genes, Plasma proteins, Predicted intracellular proteins
Subcellular location: Plasma membrane,Cytosol
Quaternary structure: Homooligomer

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 may form complex with G proteins and stimulate Rho-dependent signals. Multiple alternatively spliced transcript variants have been found for this gene, but the full-length nature of some variants has not been defined. [provided by RefSeq, Jul 2008]

Canonical amino-acid sequenceUniProt

912 residues, UniProt reviewed canonical sequence.

>Q92888|ARHGEF1
     1  MEDFARGAAS PGPSRPGLVP VSIIGAEDED FENELETNSE EQNSQFQSLE QVKRRPAHLM
    61  ALLQHVALQF EPGPLLCCLH ADMLGSLGPK EAKKAFLDFY HSFLEKTAVL RVPVPPNVAF
   121  ELDRTRADLI SEDVQRRFVQ EVVQSQQVAV GRQLEDFRSK RLMGMTPWEQ ELAQLEAWVG
   181  RDRASYEARE RHVAERLLMH LEEMQHTIST DEEKSAAVVN AIGLYMRHLG VRTKSGDKKS
   241  GRNFFRKKVM GNRRSDEPAK TKKGLSSILD AARWNRGEPQ VPDFRHLKAE VDAEKPGATD
   301  RKGGVGMPSR DRNIGAPGQD TPGVSLHPLS LDSPDREPGA DAPLELGDSS PQGPMSLESL
   361  APPESTDEGA ETESPEPGDE GEPGRSGLEL EPEEPPGWRE LVPPDTLHSL PKSQVKRQEV
   421  ISELLVTEAA HVRMLRVLHD LFFQPMAECL FFPLEELQNI FPSLDELIEV HSLFLDRLMK
   481  RRQESGYLIE EIGDVLLARF DGAEGSWFQK ISSRFCSRQS FALEQLKAKQ RKDPRFCAFV
   541  QEAESRPRCR RLQLKDMIPT EMQRLTKYPL LLQSIGQNTE EPTEREKVEL AAECCREILH
   601  HVNQAVRDME DLLRLKDYQR RLDLSHLRQS SDPMLSEFKN LDITKKKLVH EGPLTWRVTK
   661  DKAVEVHVLL LDDLLLLLQR QDERLLLKSH SRTLTPTPDG KTMLRPVLRL TSAMTREVAT
   721  DHKAFYVLFT WDQEAQIYEL VAQTVSERKN WCALITETAG SLKVPAPASR PKPRPSPSST
   781  REPLLSSSEN GNGGRETSPA DARTERILSD LLPFCRPGPE GQLAATALRK VLSLKQLLFP
   841  AEEDNGAGPP RDGDGVPGGG PLSPARTQEI QENLLSLEET MKQLEELEEE FCRLRPLLSQ
   901  LGGNSVPQPG CT

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against ARHGEF1 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): 0.4
Highest tissue expression: 165 nTPM

Expression across tissuesHPA

Tissue

spleen: 165 nTPM
lymph node: 103 nTPM
bone marrow: 93 nTPM
small intestine: 84 nTPM
thymus: 76 nTPM
lung: 66 nTPM

Single-cell type

nk-cells: 165 nCPM
neutrophils: 145 nCPM
t-cells: 142 nCPM
b-cells: 101 nCPM
tuft cells: 81 nCPM
innate lymphoid cells: 77 nCPM

Immune cell

non-classical monocyte: 49 nTPM
memory CD8 T-cell: 42 nTPM
gdT-cell: 40 nTPM
naive CD8 T-cell: 34 nTPM
intermediate monocyte: 34 nTPM
T-reg: 33 nTPM

Brain region

white matter: 23 nTPM
thalamus: 20 nTPM
medulla oblongata: 20 nTPM
cerebral cortex: 18 nTPM
pons: 17 nTPM
midbrain: 17 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about ARHGEF1.

Disease | AllUniProt

Conditions ARHGEF1 is implicated in, by any mechanism.

Immunodeficiency 62 (IMD62) MIM:618459

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): 0.34
gnomAD pLI: 0.77
gnomAD missense Z: 2.83
DepMap mean gene effect: 0
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

Molecular functions

Cellular components

Protein domainsUniProt · Pfam · InterPro

KeywordsUniProt

InteractionsUniProt · HPA

Protein binding partners of ARHGEF1 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 ARHGEF1 as an antibody target. Whether an autoantibody or antibody against ARHGEF1 could matter depends on whether native ARHGEF1 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

ARHGEF1 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 ARHGEF1 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

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