Human Gene PMM1 (uc003bal.2) Description and Page Index
Description: Homo sapiens phosphomannomutase 1 (PMM1), mRNA. RefSeq Summary (NM_002676): 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]. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: SRR5189652.38470.1, SRR5189667.210396.1 [ECO:0000332] RNAseq introns :: mixed/partial sample support SAMEA1965299, SAMEA1966682 [ECO:0000350] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000216259.8/ ENSP00000216259.7 RefSeq Select criteria :: based on conservation, expression ##RefSeq-Attributes-END## Transcript (Including UTRs) Position: hg19 chr22:41,972,890-41,985,871 Size: 12,982 Total Exon Count: 8 Strand: - Coding Region Position: hg19 chr22:41,973,322-41,985,809 Size: 12,488 Coding Exon Count: 8
ID:PMM1_HUMAN DESCRIPTION: RecName: Full=Phosphomannomutase 1; Short=PMM 1; EC=22.214.171.124; AltName: Full=PMMH-22; FUNCTION: Involved in the synthesis of the GDP-mannose and dolichol-phosphate-mannose required for a number of critical mannosyl transfer reactions. In addition, may be responsible for the degradation of glucose-1,6-bisphosphate in ischemic brain. CATALYTIC ACTIVITY: Alpha-D-mannose 1-phosphate = D-mannose 6- phosphate. COFACTOR: Magnesium. ENZYME REGULATION: IMP, a metabolite whose concentration is elevated in anoxia, inhibits phosphomannomutase and phosphoglucomutase activities and strongly enhances glucose-1,6- bisphosphatase activity (By similarity). BIOPHYSICOCHEMICAL PROPERTIES: Kinetic parameters: KM=54 uM for alpha-D-mannose 1-phosphate; KM=7.5 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. SUBCELLULAR LOCATION: Cytoplasm. TISSUE SPECIFICITY: Strong expression in liver, heart, brain, and pancreas; lower expression in skeletal muscle. SIMILARITY: Belongs to the eukaryotic PMM family.
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 Q92871
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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.