Seroatlas · Human Serome Atlas

PQBP1

Polyglutamine-binding protein 1

Also known as: MRX2, MRX55, MRXS3, MRXS8, PQBP1_HUMAN, RENS1, SHS

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

Protein identityUniProt · HPA

UniProt accession: O60828
Gene: PQBP1
Ensembl: ENSG00000102103
Chromosome: X
Canonical length: 265 aa
Protein class: Disease related genes, Human disease related genes, Predicted intracellular proteins
Subcellular location: Nucleoplasm,Nuclear speckles,Microtubules,Primary cilium,Basal body,Cytosol

OverviewNCBI Gene

This gene encodes a nuclear polyglutamine-binding protein that is involved with transcription activation. The encoded protein contains a WW domain. Mutations in this gene have been found in patients with Renpenning syndrome 1 and other syndromes with X-linked cognitive disability. Multiple alternatively spliced transcript variants that encode different protein isoforms have been described for this gene.[provided by RefSeq, Nov 2009]

Canonical amino-acid sequenceUniProt

265 residues, UniProt reviewed canonical sequence.

>O60828|PQBP1
     1  MPLPVALQTR LAKRGILKHL EPEPEEEIIA EDYDDDPVDY EATRLEGLPP SWYKVFDPSC
    61  GLPYYWNADT DLVSWLSPHD PNSVVTKSAK KLRSSNADAE EKLDRSHDKS DRGHDKSDRS
   121  HEKLDRGHDK SDRGHDKSDR DRERGYDKVD RERERDRERD RDRGYDKADR EEGKERRHHR
   181  REELAPYPKS KKAVSRKDEE LDPMDPSSYS DAPRGTWSTG LPKRNEAKTG ADTTAAGPLF
   241  QQRPYPSPGA VLRANAEASR TKQQD

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against PQBP1 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): 0.53
Highest tissue expression: 86 nTPM

Expression across tissuesHPA

Tissue

ovary: 86 nTPM
cerebellum: 82 nTPM
skeletal muscle: 79 nTPM
pancreas: 72 nTPM
cervix: 67 nTPM
heart muscle: 65 nTPM

Single-cell type

oocytes: 166 nCPM
enterocytes: 148 nCPM
esophageal basal cells: 129 nCPM
ovarian stromal cells: 110 nCPM
esophageal apical cells: 109 nCPM
decidual stromal cells: 107 nCPM

Immune cell

T-reg: 129 nTPM
myeloid DC: 111 nTPM
naive CD4 T-cell: 99 nTPM
memory B-cell: 98 nTPM
plasmacytoid DC: 98 nTPM
total PBMC: 98 nTPM

Brain region

pons: 41 nTPM
medulla oblongata: 40 nTPM
hypothalamus: 39 nTPM
cerebellum: 39 nTPM
midbrain: 39 nTPM
white matter: 38 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about PQBP1.

Disease | AllUniProt

Conditions PQBP1 is implicated in, by any mechanism.

Renpenning syndrome 1 (RENS1) MIM:309500

Disease | GeneticClinVar

35 pathogenic / likely-pathogenic of 236 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

Renpenning syndrome
Inborn genetic diseases
PQBP1-related disorder
Intellectual disability
Microcephaly

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): 0.5
gnomAD pLI: 0.79
gnomAD missense Z: 1.92
DepMap mean gene effect: -0.2
DepMap dependency class: selective

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 6% 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 PQBP1 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 PQBP1 as an antibody target. Whether an autoantibody or antibody against PQBP1 could matter depends on whether native PQBP1 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

PQBP1 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 PQBP1 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

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