Seroatlas · Human Serome Atlas

PMM1

Phosphomannomutase 1

Also known as: PMM1_HUMAN, Sec53

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

Protein identityUniProt · HPA

UniProt accession: Q92871
Gene: PMM1
Ensembl: ENSG00000100417
Chromosome: 22
Canonical length: 262 aa
Protein class: Enzymes, Metabolic proteins, Predicted intracellular proteins
Subcellular location: Cytosol
Quaternary structure: Homodimer

OverviewNCBI Gene

Phosphomannomutase catalyzes the conversion between D-mannose 6-phosphate and D-mannose 1-phosphate which is a substrate for GDP-mannose synthesis. GDP-mannose is used for synthesis of dolichol-phosphate-mannose, which is essential for N-linked glycosylation and thus the secretion of several glycoproteins as well as for the synthesis of glycosyl-phosphatidyl-inositol (GPI) anchored proteins. [provided by RefSeq, Jul 2008]

Canonical amino-acid sequenceUniProt

262 residues, UniProt reviewed canonical sequence.

>Q92871|PMM1
     1  MAVTAQAARR KERVLCLFDV DGTLTPARQK IDPEVAAFLQ KLRSRVQIGV VGGSDYCKIA
    61  EQLGDGDEVI EKFDYVFAEN GTVQYKHGRL LSKQTIQNHL GEELLQDLIN FCLSYMALLR
   121  LPKKRGTFIE FRNGMLNISP IGRSCTLEER IEFSELDKKE KIREKFVEAL KTEFAGKGLR
   181  FSRGGMISFD VFPEGWDKRY CLDSLDQDSF DTIHFFGNET SPGGNDFEIF ADPRTVGHSV
   241  VSPQDTVQRC REIFFPETAH EA

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against PMM1 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): 0.27
Highest tissue expression: 76 nTPM

Expression across tissuesHPA

Tissue

esophagus: 76 nTPM
basal ganglia: 66 nTPM
stomach: 66 nTPM
liver: 65 nTPM
cerebral cortex: 63 nTPM
kidney: 62 nTPM

Single-cell type

esophageal apical cells: 879 nCPM
enterocytes: 165 nCPM
late primary spermatocytes: 137 nCPM
epididymal efferent duct absorptive cells: 130 nCPM
tuft cells: 127 nCPM
extravillous trophoblasts: 122 nCPM

Immune cell

T-reg: 50 nTPM
eosinophil: 45 nTPM
naive CD4 T-cell: 30 nTPM
neutrophil: 29 nTPM
gdT-cell: 28 nTPM
memory CD4 T-cell: 28 nTPM

Brain region

hypothalamus: 41 nTPM
pons: 40 nTPM
thalamus: 37 nTPM
basal ganglia: 36 nTPM
cerebral cortex: 36 nTPM
white matter: 35 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about PMM1.

Disease | GeneticClinVar

1 pathogenic / likely-pathogenic of 58 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

Global developmental delay, absent or hypoplastic corpus callosum, and dysmorphic facies

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): 1.17
gnomAD pLI: 0
gnomAD missense Z: 0.84
DepMap mean gene effect: -0.03
DepMap dependency class: selective

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 5% 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

Antibody and autoantibody relevanceSeroatlas analysis

Seroatlas reads PMM1 as an antibody target. Whether an autoantibody or antibody against PMM1 could matter depends on whether native PMM1 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

PMM1 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 PMM1 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

Loading the interactive Seroatlas protein explorer...