Seroatlas · Human Serome Atlas

PLEKHG4

Puratrophin-1

Also known as: ARHGEF44, DKFZP434I216, PKHG4_HUMAN, SCA4

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

Protein identityUniProt · HPA

UniProt accession: Q58EX7
Gene: PLEKHG4
Ensembl: ENSG00000196155
Chromosome: 16
Canonical length: 1191 aa
Protein class: Predicted intracellular proteins
Subcellular location: Cell Junctions

OverviewNCBI Gene

The protein encoded by this gene can function as a guanine nucleotide exchange factor (GEF) and may play a role in intracellular signaling and cytoskeleton dynamics at the Golgi apparatus. Polymorphisms in the region of this gene have been found to be associated with spinocerebellar ataxia in some study populations. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2015]

Canonical amino-acid sequenceUniProt

1191 residues, UniProt reviewed canonical sequence.

>Q58EX7|PLEKHG4
     1  MERPLENGDE SPDSQGHATD WRFAVCSFRD AWEEEEPASQ MHVKDPGPPR PPAGATQDEE
    61  LQGSPLSRKF QLPPAADESG DAQRGTVESS SVLSEGPGPS GVESLLCPMS SHLSLAQGES
   121  DTPGVGLVGD PGPSRAMPSG LSPGALDSDP VGLGDPLSEI SKLLEAAPSG SGLPKPADCL
   181  LAQDLCWELL ASGMATLPGT RDVQGRAVLL LCAHSPAWLQ SECSSQELIR LLLYLRSIPR
   241  PEVQALGLTV LVDARICAPS SSLFSGLSQL QEAAPGAVYQ VLLVGSTLLK EVPSGLQLEQ
   301  LPSQSLLTHI PTAGLPTSLG GGLPYCHQAW LDFRRRLEAL LQNCQAACAL LQGAIESVKA
   361  VPQPMEPGEV GQLLQQTEVL MQQVLDSPWL AWLQCQGGRE LTWLKQEVPE VTLSPDYRTA
   421  MDKADELYDR VDGLLHQLTL QSNQRIQALE LVQTLEARES GLHQIEVWLQ QVGWPALEEA
   481  GEPSLDMLLQ AQGSFQELYQ VAQEQVRQGE KFLQPLTGWE AAELDPPGAR FLALRAQLTE
   541  FSRALAQRCQ RLADAERLFQ LFREALTWAE EGQRVLAELE QERPGVVLQQ LQLHWTRHPD
   601  LPPAHFRKMW ALATGLGSEA IRQECRWAWA RCQDTWLALD QKLEASLKLP PVGSTASLCV
   661  SQVPAAPAHP PLRKAYSFDR NLGQSLSEPA CHCHHAATIA ACRRPEAGGG ALPQASPTVP
   721  PPGSSDPRSL NRLQLVLAEM VATEREYVRA LEYTMENYFP ELDRPDVPQG LRGQRAHLFG
   781  NLEKLRDFHC HFFLRELEAC TRHPPRVAYA FLRHRVQFGM YALYSKNKPR SDALMSSYGH
   841  TFFKDKQQAL GDHLDLASYL LKPIQRMGKY ALLLQELARA CGGPTQELSA LREAQSLVHF
   901  QLRHGNDLLA MDAIQGCDVN LKEQGQLVRQ DEFVVRTGRH KSVRRIFLFE ELLLFSKPRH
   961  GPTGVDTFAY KRSFKMADLG LTECCGNSNL RFEIWFRRRK ARDTFVLQAS SLAIKQAWTA
  1021  DISHLLWRQA VHNKEVRMAE MVSMGVGNKA FRDIAPSEEA INDRTVNYVL KCREVRSRAS
  1081  IAVAPFDHDS LYLGASNSLP GDPASCSVLG SLNLHLYRDP ALLGLRCPLY PSFPEEAALE
  1141  AEAELGGQPS LTAEDSEISS QCPSASGSSG SDSSCVSGQA LGRGLEDLPC V

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against PLEKHG4 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): 0.42
Highest tissue expression: 40 nTPM

Expression across tissuesHPA

Tissue

testis: 40 nTPM
ovary: 17 nTPM
breast: 9 nTPM
skin: 8.5 nTPM
spleen: 8.1 nTPM
adipose tissue: 7.5 nTPM

Single-cell type

early primary spermatocytes: 40 nCPM
differentiating spermatogonia: 25 nCPM
retinal pigment epithelial cells: 17 nCPM
fibro-adipogenic progenitors: 13 nCPM
tuft cells: 12 nCPM
epicardial cells: 11 nCPM

Immune cell

plasmacytoid DC: 1.1 nTPM
naive CD4 T-cell: 0.5 nTPM
MAIT T-cell: 0.4 nTPM
T-reg: 0.4 nTPM
memory CD8 T-cell: 0.3 nTPM
naive CD8 T-cell: 0.3 nTPM

Brain region

white matter: 6 nTPM
medulla oblongata: 4.2 nTPM
pons: 4 nTPM
midbrain: 3.9 nTPM
cerebellum: 3.8 nTPM
basal ganglia: 3.7 nTPM

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): 0.77
gnomAD pLI: 0
gnomAD missense Z: 1.3
DepMap mean gene effect: -0.05
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

guanyl-nucleotide exchange factor activity

Cellular components

Protein domainsUniProt · Pfam · InterPro

KeywordsUniProt

Antibody and autoantibody relevanceSeroatlas analysis

Seroatlas reads PLEKHG4 as an antibody target. Whether an autoantibody or antibody against PLEKHG4 could matter depends on whether native PLEKHG4 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

PLEKHG4 is annotated at the cell surface, where native PLEKHG4 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 PLEKHG4 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

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