Human Gene PMM2 (ENST00000268261.9) from GENCODE V44
Description: Homo sapiens phosphomannomutase 2 (PMM2), mRNA. (from RefSeq NM_000303) RefSeq Summary (NM_000303): The protein encoded by this gene catalyzes the isomerization of mannose 6-phosphate to mannose 1-phosphate, which is a precursor to GDP-mannose necessary for the synthesis of dolichol-P-oligosaccharides. Mutations in this gene have been shown to cause defects in glycoprotein biosynthesis, which manifests as carbohydrate-deficient glycoprotein syndrome type I. [provided by RefSeq, Jul 2008]. Gencode Transcript: ENST00000268261.9 Gencode Gene: ENSG00000140650.13 Transcript (Including UTRs) Position: hg38 chr16:8,797,839-8,849,325 Size: 51,487 Total Exon Count: 8 Strand: + Coding Region Position: hg38 chr16:8,797,883-8,847,825 Size: 49,943 Coding Exon Count: 8
ID:PMM2_HUMAN DESCRIPTION: RecName: Full=Phosphomannomutase 2; Short=PMM 2; EC=5.4.2.8; FUNCTION: Involved in the synthesis of the GDP-mannose and dolichol-phosphate-mannose required for a number of critical mannosyl transfer reactions (By similarity). CATALYTIC ACTIVITY: Alpha-D-mannose 1-phosphate = D-mannose 6- phosphate. BIOPHYSICOCHEMICAL PROPERTIES: Kinetic parameters: KM=16 uM for alpha-D-mannose 1-phosphate; KM=13.5 uM for alpha-D-glucose 1-phosphate; PATHWAY: Nucleotide-sugar biosynthesis; GDP-alpha-D-mannose biosynthesis; alpha-D-mannose 1-phosphate from D-fructose 6- phosphate: step 2/2. SUBUNIT: Homodimer (By similarity). SUBCELLULAR LOCATION: Cytoplasm. DISEASE: Defects in PMM2 are the cause of congenital disorder of glycosylation type 1A (CDG1A) [MIM:212065]; also known as carbohydrate-deficient glycoprotein syndrome type Ia (CDGS1A) or Jaeken syndrome. Congenital disorders of glycosylation are metabolic deficiencies in glycoprotein biosynthesis that usually cause severe mental and psychomotor retardation. They are characterized by under-glycosylated serum glycoproteins. CDG1A is an autosomal recessive disorder characterized by a severe encephalopathy with axial hypotonia, abnormal eye movement, and pronounced psychomotor retardation, as well as peripheral neuropathy, cerebellar hypoplasia, and retinitis pigmentosa. Patients show a peculiar distribution of subcutaneous fat, nipple retraction, and hypogonadism. SIMILARITY: Belongs to the eukaryotic PMM family. WEB RESOURCE: Name=GeneReviews; URL="http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/PMM2";
The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.
ModBase Predicted Comparative 3D Structure on O15305
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Orthologous Genes in Other Species
Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
Biological Process: GO:0006013 mannose metabolic process GO:0006486 protein glycosylation GO:0006487 protein N-linked glycosylation GO:0009298 GDP-mannose biosynthetic process GO:0045047 protein targeting to ER
Protein O15305 (Reactome details) participates in the following event(s):
R-HSA-446201 PMM1,2 isomerise Man6P to Man1P R-HSA-446205 Synthesis of GDP-mannose R-HSA-446219 Synthesis of substrates in N-glycan biosythesis R-HSA-446193 Biosynthesis of the N-glycan precursor (dolichol lipid-linked oligosaccharide, LLO) and transfer to a nascent protein R-HSA-446203 Asparagine N-linked glycosylation R-HSA-597592 Post-translational protein modification R-HSA-392499 Metabolism of proteins
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