Seroatlas · Human Serome Atlas

Mgu

Uroporphyrinogen-III synthase

Also known as: HEM4_HUMAN, UROS

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

Protein identityUniProt · HPA

UniProt accession
P10746
Gene
Mgu
Ensembl
ENSG00000188690
Chromosome
10
Canonical length
265 aa
Protein class
Disease related genes, Enzymes, Human disease related genes, Metabolic proteins, Potential drug targets, Predicted intracellular proteins
Subcellular location
Nucleoplasm,Cytosol

OverviewNCBI Gene

The protein encoded by this gene catalyzes the fourth step of porphyrin biosynthesis in the heme biosynthetic pathway. Defects in this gene cause congenital erythropoietic porphyria (Gunther's disease). [provided by RefSeq, Jul 2008]

Canonical amino-acid sequenceUniProt

265 residues, UniProt reviewed canonical sequence.

>P10746|Mgu
     1  MKVLLLKDAK EDDCGQDPYI RELGLYGLEA TLIPVLSFEF LSLPSFSEKL SHPEDYGGLI
    61  FTSPRAVEAA ELCLEQNNKT EVWERSLKEK WNAKSVYVVG NATASLVSKI GLDTEGETCG
   121  NAEKLAEYIC SRESSALPLL FPCGNLKREI LPKALKDKGI AMESITVYQT VAHPGIQGNL
   181  NSYYSQQGVP ASITFFSPSG LTYSLKHIQE LSGDNIDQIK FAAIGPTTAR ALAAQGLPVS
   241  CTAESPTPQA LATGIRKALQ PHGCC

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against Mgu 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)
0.28
Highest tissue expression
119 nTPM

Expression across tissuesHPA

Tissue

  • amygdala: 119 nTPM
  • basal ganglia: 110 nTPM
  • cerebral cortex: 98 nTPM
  • hippocampal formation: 93 nTPM
  • skeletal muscle: 79 nTPM
  • tongue: 75 nTPM

Single-cell type

  • erythrocyte progenitors: 235 nCPM
  • late spermatids: 189 nCPM
  • megakaryocytes: 142 nCPM
  • epididymal principal cells: 120 nCPM
  • parietal cells: 117 nCPM
  • undifferentiated spermatogonia: 115 nCPM

Immune cell

  • NK-cell: 54 nTPM
  • myeloid DC: 54 nTPM
  • memory CD8 T-cell: 39 nTPM
  • naive CD4 T-cell: 38 nTPM
  • total PBMC: 38 nTPM
  • naive B-cell: 38 nTPM

Brain region

  • cerebral cortex: 70 nTPM
  • hippocampal formation: 69 nTPM
  • basal ganglia: 68 nTPM
  • amygdala: 66 nTPM
  • thalamus: 61 nTPM
  • midbrain: 54 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about Mgu.

Disease | AllUniProt

Conditions Mgu is implicated in, by any mechanism.

  • Congenital erythropoietic porphyria (CEP) MIM:263700

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)
0.73
gnomAD pLI
0.03
DepMap mean gene effect
-0.13
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

  • Tetrapyrrole biosynthesis, uroporphyrinogen III synthase
  • Tetrapyrrole biosynthesis, uroporphyrinogen III synthase superfamily
  • Uroporphyrinogen-III synthase
  • Uroporphyrinogen-III synthase HemD

KeywordsUniProt

Antibody and autoantibody relevanceSeroatlas analysis

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

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

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