Seroatlas · Human Serome Atlas

PLEKHG5

Pleckstrin homology domain-containing family G member 5

Also known as: GEF720, KIAA0720, PKHG5_HUMAN, Syx, Tech

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

Protein identityUniProt · HPA

UniProt accession: O94827
Gene: PLEKHG5
Ensembl: ENSG00000171680
Chromosome: 1
Canonical length: 1006 aa
Protein class: Disease related genes, Human disease related genes, Predicted intracellular proteins
Subcellular location: Nucleoplasm

OverviewNCBI Gene

This gene encodes a protein that activates the nuclear factor kappa B (NFKB1) signaling pathway. Mutations in this gene are associated with autosomal recessive distal spinal muscular atrophy. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2012]

Canonical amino-acid sequenceUniProt

1006 residues, UniProt reviewed canonical sequence.

>O94827|PLEKHG5
     1  MHYDGHVRFD LPPQGSVLAR NVSTRSCPPR TSPAVDLEEE EEESSVDGKG DRKSTGLKLS
    61  KKKARRRHTD DPSKECFTLK FDLNVDIETE IVPAMKKKSL GEVLLPVFER KGIALGKVDI
   121  YLDQSNTPLS LTFEAYRFGG HYLRVKAPAK PGDEGKVEQG MKDSKSLSLP ILRPAGTGPP
   181  ALERVDAQSR RESLDILAPG RRRKNMSEFL GEASIPGQEP PTPSSCSLPS GSSGSTNTGD
   241  SWKNRAASRF SGFFSSGPST SAFGREVDKM EQLEGKLHTY SLFGLPRLPR GLRFDHDSWE
   301  EEYDEDEDED NACLRLEDSW RELIDGHEKL TRRQCHQQEA VWELLHTEAS YIRKLRVIIN
   361  LFLCCLLNLQ ESGLLCEVEA ERLFSNIPEI AQLHRRLWAS VMAPVLEKAR RTRALLQPGD
   421  FLKGFKMFGS LFKPYIRYCM EEEGCMEYMR GLLRDNDLFR AYITWAEKHP QCQRLKLSDM
   481  LAKPHQRLTK YPLLLKSVLR KTEEPRAKEA VVAMIGSVER FIHHVNACMR QRQERQRLAA
   541  VVSRIDAYEV VESSSDEVDK LLKEFLHLDL TAPIPGASPE ETRQLLLEGS LRMKEGKDSK
   601  MDVYCFLFTD LLLVTKAVKK AERTRVIRPP LLVDKIVCRE LRDPGSFLLI YLNEFHSAVG
   661  AYTFQASGQA LCRGWVDTIY NAQNQLQQLR AQEPPGSQQP LQSLEEEEDE QEEEEEEEEE
   721  EEEGEDSGTS AASSPTIMRK SSGSPDSQHC ASDGSTETLA MVVVEPGDTL SSPEFDSGPF
   781  SSQSDETSLS TTASSATPTS ELLPLGPVDG RSCSMDSAYG TLSPTSLQDF VAPGPMAELV
   841  PRAPESPRVP SPPPSPRLRR RTPVQLLSCP PHLLKSKSEA SLLQLLAGAG THGTPSAPSR
   901  SLSELCLAVP APGIRTQGSP QEAGPSWDCR GAPSPGSGPG LVGCLAGEPA GSHRKRCGDL
   961  PSGASPRVQP EPPPGVSAQH RKLTLAQLYR IRTTLLLNST LTASEV

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against PLEKHG5 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): 0.5
Highest tissue expression: 140 nTPM

Expression across tissuesHPA

Tissue

cerebellum: 140 nTPM
skin: 97 nTPM
spleen: 51 nTPM
pituitary gland: 45 nTPM
cerebral cortex: 35 nTPM
esophagus: 26 nTPM

Single-cell type

esophageal suprabasal cells: 59 nCPM
corticotrophs: 45 nCPM
esophageal apical cells: 45 nCPM
ocular epithelial cells: 45 nCPM
suprabasal keratinocytes: 43 nCPM
adipocytes: 37 nCPM

Immune cell

memory CD4 T-cell: 0.2 nTPM
MAIT T-cell: 0.1 nTPM
memory CD8 T-cell: 0.1 nTPM
naive CD4 T-cell: 0.1 nTPM
basophil: 0 nTPM
classical monocyte: 0 nTPM

Brain region

cerebellum: 170 nTPM
cerebral cortex: 84 nTPM
hippocampal formation: 75 nTPM
basal ganglia: 48 nTPM
amygdala: 48 nTPM
white matter: 43 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about PLEKHG5.

Disease | AllUniProt

Conditions PLEKHG5 is implicated in, by any mechanism.

Neuronopathy, distal hereditary motor, autosomal recessive 4 (HMNR4) MIM:611067
Charcot-Marie-Tooth disease, recessive intermediate C (CMTRIC) MIM:615376

Disease | GeneticClinVar

88 pathogenic / likely-pathogenic of 1,528 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

Neuronopathy, distal hereditary motor, autosomal recessive 4
Charcot-Marie-Tooth disease recessive intermediate C
Glioma susceptibility 1
Juvenile amyotrophic lateral sclerosis
Inborn genetic diseases

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): 0.56
gnomAD pLI: 0
gnomAD missense Z: 1.49
DepMap mean gene effect: 0.09
DepMap dependency class: none

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 4% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

Molecular functions

guanyl-nucleotide exchange factor activity

Cellular components

Protein domainsUniProt · Pfam · InterPro

KeywordsUniProt

InteractionsUniProt · HPA

Protein binding partners of PLEKHG5 in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.

RHOA

Antibody and autoantibody relevanceSeroatlas analysis

Seroatlas reads PLEKHG5 as an antibody target. Whether an autoantibody or antibody against PLEKHG5 could matter depends on whether native PLEKHG5 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

PLEKHG5 is annotated at the cell surface, where native PLEKHG5 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 PLEKHG5 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

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