Seroatlas · Human Serome Atlas

PYROXD1

Pyridine nucleotide-disulfide oxidoreductase domain-containing protein 1

Also known as: DKFZp762G094, FLJ22028, PYRD1_HUMAN

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

Protein identityUniProt · HPA

UniProt accession
Q8WU10
Gene
PYROXD1
Ensembl
ENSG00000121350
Chromosome
12
Canonical length
500 aa
Protein class
Disease related genes, Human disease related genes, Predicted intracellular proteins
Subcellular location
Nuclear speckles

OverviewNCBI Gene

This gene encodes a nuclear-cytoplasmic pyridine nucleotide-disulphide reductase (PNDR). PNDRs are flavoproteins that catalyze the pyridine nucleotide-dependent reduction of thiol residues in other proteins. The encoded protein belongs to the class I pyridine nucleotide-disulphide oxidoreductase family but lacks the C-terminal dimerization domain found in other family members and instead has a C-terminal nitrile reductase domain. It localizes to the nucleus and to striated sarcomeric compartments. Naturally occurring mutations in this gene cause early-onset myopathy with internalized nuclei and myofibrillar disorganization. A pseudogene of this gene has been defined on chromosome 11. [provided by RefSeq, Apr 2017]

Canonical amino-acid sequenceUniProt

500 residues, UniProt reviewed canonical sequence.

>Q8WU10|PYROXD1
     1  MEAARPPPTA GKFVVVGGGI AGVTCAEQLA THFPSEDILL VTASPVIKAV TNFKQISKIL
    61  EEFDVEEQSS TMLGKRFPNI KVIESGVKQL KSEEHCIVTE DGNQHVYKKL CLCAGAKPKL
   121  ICEGNPYVLG IRDTDSAQEF QKQLTKAKRI MIIGNGGIAL ELVYEIEGCE VIWAIKDKAI
   181  GNTFFDAGAA EFLTSKLIAE KSEAKIAHKR TRYTTEGRKK EARSKSKADN VGSALGPDWH
   241  EGLNLKGTKE FSHKIHLETM CEVKKIYLQD EFRILKKKSF TFPRDHKSVT ADTEMWPVYV
   301  ELTNEKIYGC DFIVSATGVT PNVEPFLHGN SFDLGEDGGL KVDDHMHTSL PDIYAAGDIC
   361  TTSWQLSPVW QQMRLWTQAR QMGWYAAKCM AAASSGDSID MDFSFELFAH VTKFFNYKVV
   421  LLGKYNAQGL GSDHELMLRC TKGREYIKVV MQNGRMMGAV LIGETDLEET FENLILNQMN
   481  LSSYGEDLLD PNIDIEDYFD

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against PYROXD1 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)
0.26
Highest tissue expression
16 nTPM

Expression across tissuesHPA

Tissue

  • kidney: 16 nTPM
  • small intestine: 15 nTPM
  • thyroid gland: 15 nTPM
  • duodenum: 13 nTPM
  • retina: 13 nTPM
  • pancreas: 13 nTPM

Single-cell type

  • late primary spermatocytes: 94 nCPM
  • pancreatic acinar cells: 87 nCPM
  • early spermatids: 69 nCPM
  • cone photoreceptor cells: 56 nCPM
  • mucous neck cells: 55 nCPM
  • foveolar cells: 53 nCPM

Immune cell

  • non-classical monocyte: 2.7 nTPM
  • memory CD8 T-cell: 2.1 nTPM
  • MAIT T-cell: 2 nTPM
  • memory CD4 T-cell: 2 nTPM
  • gdT-cell: 1.7 nTPM
  • naive CD8 T-cell: 1.7 nTPM

Brain region

  • white matter: 12 nTPM
  • pons: 12 nTPM
  • midbrain: 11 nTPM
  • choroid plexus: 11 nTPM
  • hypothalamus: 11 nTPM
  • medulla oblongata: 11 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about PYROXD1.

Disease | AllUniProt

Conditions PYROXD1 is implicated in, by any mechanism.

Disease | GeneticClinVar

29 pathogenic / likely-pathogenic of 447 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

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)
0.97
gnomAD pLI
0
gnomAD missense Z
0.1
DepMap mean gene effect
-0.72
DepMap dependency class
common

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 PYROXD1 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 PYROXD1 as an antibody target. Whether an autoantibody or antibody against PYROXD1 could matter depends on whether native PYROXD1 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

PYROXD1 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 PYROXD1 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

Canonical record: https://seroatlas.com/gene/PYROXD1. Study-independent annotations aggregated from UniProt, Human Protein Atlas, PubMed, IEDB, Pfam, InterPro, Gene Ontology, AlphaFold, gnomAD, DepMap, ClinVar, TCGA. Catalog release seroatlas-reviewed-human-uniprot-20260313.

Seroatlas is the reference for exploring autoantibody and antibody serology at the human-protein level: the autoreactome and human serome, multiplex serology (HuProt, HuScan, VirScan, PhIP-Seq).

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