PRX

Protein identityUniProt · HPA

UniProt accession

Q9BXM0

Gene

PRX

Ensembl

ENSG00000105227

Chromosome

19

Canonical length

1461 aa

Protein class

Disease related genes, Human disease related genes, Plasma proteins, Predicted intracellular proteins

Subcellular location

Golgi apparatus,Vesicles,Plasma membrane

Quaternary structure

Homodimer

OverviewNCBI Gene

This gene encodes a protein involved in peripheral nerve myelin upkeep. The encoded protein contains 2 PDZ domains which were named after PSD95 (post synaptic density protein), DlgA (Drosophila disc large tumor suppressor), and ZO1 (a mammalian tight junction protein). Two alternatively spliced transcript variants have been described for this gene which encode different protein isoforms and which are targeted differently in the Schwann cell. Mutations in this gene cause Charcot-Marie-Tooth neuoropathy, type 4F and Dejerine-Sottas neuropathy. [provided by RefSeq, Jul 2008]

Canonical amino-acid sequenceUniProt

1461 residues, UniProt reviewed canonical sequence.

>Q9BXM0|PRX
     1  MEARSRSAEE LRRAELVEII VETEAQTGVS GINVAGGGKE GIFVRELRED SPAARSLSLQ
    61  EGDQLLSARV FFENFKYEDA LRLLQCAEPY KVSFCLKRTV PTGDLALRPG TVSGYEIKGP
   121  RAKVAKLNIQ SLSPVKKKKM VPGALGVPAD LAPVDVEFSF PKFSRLRRGL KAEAVKGPVP
   181  AAPARRRLQL PRLRVREVAE EAQAARLAAA APPPRKAKVE AEVAAGARFT APQVELVGPR
   241  LPGAEVGVPQ VSAPKAAPSA EAAGGFALHL PTLGLGAPAP PAVEAPAVGI QVPQVELPAL
   301  PSLPTLPTLP CLETREGAVS VVVPTLDVAA PTVGVDLALP GAEVEARGEA PEVALKMPRL
   361  SFPRFGARAK EVAEAKVAKV SPEARVKGPR LRMPTFGLSL LEPRPAAPEV VESKLKLPTI
   421  KMPSLGIGVS GPEVKVPKGP EVKLPKAPEV KLPKVPEAAL PEVRLPEVEL PKVSEMKLPK
   481  VPEMAVPEVR LPEVELPKVS EMKLPKVPEM AVPEVRLPEV QLLKVSEMKL PKVPEMAVPE
   541  VRLPEVQLPK VSEMKLPEVS EVAVPEVRLP EVQLPKVPEM KVPEMKLPKV PEMKLPEMKL
   601  PEVQLPKVPE MAVPDVHLPE VQLPKVPEMK LPEMKLPEVK LPKVPEMAVP DVHLPEVQLP
   661  KVPEMKLPKM PEMAVPEVRL PEVQLPKVSE MKLPKVPEMA VPDVHLPEVQ LPKVCEMKVP
   721  DMKLPEIKLP KVPEMAVPDV HLPEVQLPKV SEIRLPEMQV PKVPDVHLPK APEVKLPRAP
   781  EVQLKATKAE QAEGMEFGFK MPKMTMPKLG RAESPSRGKP GEAGAEVSGK LVTLPCLQPE
   841  VDGEAHVGVP SLTLPSVELD LPGALGLQGQ VPAAKMGKGE RVEGPEVAAG VREVGFRVPS
   901  VEIVTPQLPA VEIEEGRLEM IETKVKPSSK FSLPKFGLSG PKVAKAEAEG AGRATKLKVS
   961  KFAISLPKAR VGAEAEAKGA GEAGLLPALD LSIPQLSLDA HLPSGKVEVA GADLKFKGPR
  1021  FALPKFGVRG RDTEAAELVP GVAELEGKGW GWDGRVKMPK LKMPSFGLAR GKEAEVQGDR
  1081  ASPGEKAEST AVQLKIPEVE LVTLGAQEEG RAEGAVAVSG MQLSGLKVST AGQVVTEGHD
  1141  AGLRMPPLGI SLPQVELTGF GEAGTPGQQA QSTVPSAEGT AGYRVQVPQV TLSLPGAQVA
  1201  GGELLVGEGV FKMPTVTVPQ LELDVGLSRE AQAGEAATGE GGLRLKLPTL GARARVGGEG
  1261  AEEQPPGAER TFCLSLPDVE LSPSGGNHAE YQVAEGEGEA GHKLKVRLPR FGLVRAKEGA
  1321  EEGEKAKSPK LRLPRVGFSQ SEMVTGEGSP SPEEEEEEEE EGSGEGASGR RGRVRVRLPR
  1381  VGLAAPSKAS RGQEGDAAPK SPVREKSPKF RFPRVSLSPK ARSGSGDQEE GGLRVRLPSV
  1441  GFSETGAPGP ARMEGAQAAA V

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against PRX 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)

0.68

Highest tissue expression

34 nTPM

Expression across tissuesHPA

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about PRX.

Disease | AllUniProt

Conditions PRX is implicated in, by any mechanism.

• Dejerine-Sottas syndrome (DSS) MIM:145900
• Charcot-Marie-Tooth disease, demyelinating, type 4F (CMT4F) MIM:614895

Disease | GeneticClinVar

91 pathogenic / likely-pathogenic of 1,523 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

• Charcot-Marie-Tooth disease type 4
• Charcot-Marie-Tooth disease type 4F
• Charcot-Marie-Tooth disease
• Dejerine-Sottas disease
• Inborn genetic diseases

Disease | ImmuneIEDB

Conditions an epitope on PRX was assayed in.

• multiple sclerosis B cell
• amyotrophic lateral sclerosis B cell
• neuromyelitis optica 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)

0.98

gnomAD pLI

0

gnomAD missense Z

-0.13

DepMap mean gene effect

0.01

DepMap dependency class

selective

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

• axon ensheathment
• peripheral nervous system myelin maintenance
• regulation of RNA splicing

Cellular components

• anchoring junction
• cytoplasm
• nucleus
• plasma membrane

Protein domainsUniProt · Pfam · InterPro

• PDZ domain
• PDZ superfamily
• Peripheral myelin sheath structural protein

KeywordsUniProt

• Cell junction
• Cell membrane
• Charcot-Marie-Tooth disease
• Cytoplasm
• Dejerine-Sottas syndrome
• Membrane
• Neurodegeneration
• Neuropathy
• Nucleus
• Phosphoprotein
• Repeat

InteractionsUniProt · HPA

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

• DRP2
• SCN10A