Seroatlas · Human Serome Atlas

PCBD1

Pterin-4-alpha-carbinolamine dehydratase

Also known as: DCOH, PCBD, PCD, PHS_HUMAN

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

Protein identityUniProt · HPA

UniProt accession
P61457
Gene
PCBD1
Ensembl
ENSG00000166228
Chromosome
10
Canonical length
104 aa
Protein class
Disease related genes, Enzymes, Human disease related genes, Metabolic proteins, Potential drug targets, Predicted intracellular proteins
Subcellular location
Nucleoplasm,Cytosol
Quaternary structure
Homotetramer

OverviewNCBI Gene

This gene encodes a member of the pterin-4-alpha-carbinolamine dehydratase family. The encoded protein has been identified as a moonlighting protein based on its ability to perform mechanistically distinct functions. The encoded protein functions as both a dehydratase involved in tetrahydrobiopterin biosynthesis, and as a cofactor for HNF1A-dependent transcription. A deficiency of this enzyme leads to hyperphenylalaninemia. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2014]

Canonical amino-acid sequenceUniProt

104 residues, UniProt reviewed canonical sequence.

>P61457|PCBD1
     1  MAGKAHRLSA EERDQLLPNL RAVGWNELEG RDAIFKQFHF KDFNRAFGFM TRVALQAEKL
    61  DHHPEWFNVY NKVHITLSTH ECAGLSERDI NLASFIEQVA VSMT

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against PCBD1 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)
0.31
Highest tissue expression
488 nTPM

Expression across tissuesHPA

Tissue

  • liver: 488 nTPM
  • kidney: 244 nTPM
  • pancreas: 171 nTPM
  • heart muscle: 147 nTPM
  • adrenal gland: 131 nTPM
  • parathyroid gland: 127 nTPM

Single-cell type

  • hepatocytes: 605 nCPM
  • epididymal efferent duct absorptive cells: 416 nCPM
  • gastric progenitor cells: 326 nCPM
  • esophageal suprabasal cells: 267 nCPM
  • epididymal efferent duct ciliated cells: 262 nCPM
  • epididymal clear cells: 247 nCPM

Immune cell

  • myeloid DC: 50 nTPM
  • intermediate monocyte: 47 nTPM
  • T-reg: 41 nTPM
  • plasmacytoid DC: 36 nTPM
  • non-classical monocyte: 35 nTPM
  • memory CD8 T-cell: 28 nTPM

Brain region

  • pons: 118 nTPM
  • midbrain: 116 nTPM
  • hypothalamus: 112 nTPM
  • medulla oblongata: 88 nTPM
  • thalamus: 85 nTPM
  • spinal cord: 75 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about PCBD1.

Disease | AllUniProt

Conditions PCBD1 is implicated in, by any mechanism.

  • Hyperphenylalaninemia, BH4-deficient, D (HPABH4D) MIM:264070

Disease | GeneticClinVar

17 pathogenic / likely-pathogenic of 135 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

  • Pterin-4 alpha-carbinolamine dehydratase 1 deficiency

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)
1.84
gnomAD pLI
0
gnomAD missense Z
0.72
DepMap mean gene effect
0.1
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

Molecular functions

Cellular components

Protein domainsUniProt · Pfam · InterPro

KeywordsUniProt

InteractionsUniProt · HPA

Protein binding partners of PCBD1 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 PCBD1 as an antibody target. Whether an autoantibody or antibody against PCBD1 could matter depends on whether native PCBD1 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

PCBD1 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 PCBD1 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

Canonical record: https://seroatlas.com/gene/PCBD1. 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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