Seroatlas · Human Serome Atlas

UMPS

Uridine 5'-monophosphate synthase

Also known as: UMPS_HUMAN

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

Protein identityUniProt · HPA

UniProt accession: P11172
Gene: UMPS
Ensembl: ENSG00000114491
Chromosome: 3
Canonical length: 480 aa
Protein class: Disease related genes, Enzymes, Human disease related genes, Metabolic proteins, Potential drug targets, Predicted intracellular proteins
Subcellular location: Cytosol
Quaternary structure: Homodimer

OverviewNCBI Gene

This gene encodes a uridine 5'-monophosphate synthase. The encoded protein is a bifunctional enzyme that catalyzes the final two steps of the de novo pyrimidine biosynthetic pathway. The first reaction is carried out by the N-terminal enzyme orotate phosphoribosyltransferase which converts orotic acid to orotidine-5'-monophosphate. The terminal reaction is carried out by the C-terminal enzyme OMP decarboxylase which converts orotidine-5'-monophosphate to uridine monophosphate. Defects in this gene are the cause of hereditary orotic aciduria. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Mar 2010]

Canonical amino-acid sequenceUniProt

480 residues, UniProt reviewed canonical sequence.

>P11172|UMPS
     1  MAVARAALGP LVTGLYDVQA FKFGDFVLKS GLSSPIYIDL RGIVSRPRLL SQVADILFQT
    61  AQNAGISFDT VCGVPYTALP LATVICSTNQ IPMLIRRKET KDYGTKRLVE GTINPGETCL
   121  IIEDVVTSGS SVLETVEVLQ KEGLKVTDAI VLLDREQGGK DKLQAHGIRL HSVCTLSKML
   181  EILEQQKKVD AETVGRVKRF IQENVFVAAN HNGSPLSIKE APKELSFGAR AELPRIHPVA
   241  SKLLRLMQKK ETNLCLSADV SLARELLQLA DALGPSICML KTHVDILNDF TLDVMKELIT
   301  LAKCHEFLIF EDRKFADIGN TVKKQYEGGI FKIASWADLV NAHVVPGSGV VKGLQEVGLP
   361  LHRGCLLIAE MSSTGSLATG DYTRAAVRMA EEHSEFVVGF ISGSRVSMKP EFLHLTPGVQ
   421  LEAGGDNLGQ QYNSPQEVIG KRGSDIIIVG RGIISAADRL EAAEMYRKAA WEAYLSRLGV

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against UMPS 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: 2.9 nTPM

Expression across tissuesHPA

Tissue

skeletal muscle: 2.9 nTPM
liver: 2.5 nTPM
spleen: 2.4 nTPM
cerebellum: 2.3 nTPM
colon: 2.2 nTPM
pancreas: 2.1 nTPM

Single-cell type

syncytiotrophoblasts: 140 nCPM
cytotrophoblasts: 86 nCPM
migrating cytotrophoblasts: 73 nCPM
erythrocyte progenitors: 60 nCPM
esophageal basal cells: 55 nCPM
gastric progenitor cells: 54 nCPM

Immune cell

naive B-cell: 25 nTPM
memory B-cell: 17 nTPM
myeloid DC: 15 nTPM
gdT-cell: 14 nTPM
naive CD4 T-cell: 14 nTPM
NK-cell: 13 nTPM

Brain region

white matter: 7.8 nTPM
medulla oblongata: 7.3 nTPM
cerebellum: 7 nTPM
cerebral cortex: 6.5 nTPM
hippocampal formation: 6.4 nTPM
amygdala: 6.3 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about UMPS.

Disease | AllUniProt

Conditions UMPS is implicated in, by any mechanism.

Orotic aciduria 1 (ORAC1) MIM:258900

Disease | GeneticClinVar

5 pathogenic / likely-pathogenic of 294 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

Oroticaciduria
Cardiomyopathy

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): 0.93
gnomAD pLI: 0
gnomAD missense Z: 1.14
DepMap mean gene effect: -0.39
DepMap dependency class: selective

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 11% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

Molecular functions

identical protein binding
orotate phosphoribosyltransferase activity
orotidine-5'-phosphate decarboxylase activity

Cellular components

Protein domainsUniProt · Pfam · InterPro

Phosphoribosyltransferase domain
Ribulose-phosphate binding barrel
Aldolase-type TIM barrel
Phosphoribosyltransferase-like
Phosphoribosyl transferase domain
Orotidine 5'-phosphate decarboxylase domain
Orotate phosphoribosyl transferase domain
Orotidine 5'-phosphate decarboxylase
Orotidine 5'-phosphate decarboxylase, active site
Orotate phosphoribosyltransferase
Orotidine 5'-phosphate decarboxylase / HUMPS family

KeywordsUniProt

Antibody and autoantibody relevanceSeroatlas analysis

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

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

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