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 

Page IndexSequence and LinksUniProtKB CommentsCTDGene AllelesRNA-Seq Expression
Microarray ExpressionRNA StructureProtein StructureOther SpeciesGO AnnotationsmRNA Descriptions
PathwaysOther NamesModel InformationMethods
Data last updated: 2013-06-14

-  Sequence and Links to Tools and Databases
Genomic Sequence (chr22:41,972,890-41,985,871)mRNA (may differ from genome)Protein (262 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
BioGPSCGAPEnsemblEntrez GeneExonPrimerGeneCards
neXtProtOMIMPubMedReactomeStanford SOURCETreefam

-  Comments and Description Text from UniProtKB
DESCRIPTION: RecName: Full=Phosphomannomutase 1; Short=PMM 1; EC=; 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.
TISSUE SPECIFICITY: Strong expression in liver, heart, brain, and pancreas; lower expression in skeletal muscle.
SIMILARITY: Belongs to the eukaryotic PMM family.

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

+  Common Gene Haplotype Alleles
  Press "+" in the title bar above to open this section.

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 36.99 RPKM in Esophagus - Mucosa
Total median expression: 1218.20 RPKM

View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
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-  mRNA Secondary Structure of 3' and 5' UTRs
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -20.7062-0.334 Picture PostScript Text
3' UTR -177.00432-0.410 Picture PostScript Text

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.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR023214 - HAD-like_dom
IPR006379 - HAD-SF_hydro_IIB
IPR005002 - PMM

Pfam Domains:
PF03332 - Eukaryotic phosphomannomutase
PF08282 - haloacid dehalogenase-like hydrolase

SCOP Domains:
56784 - HAD-like

Protein Data Bank (PDB) 3-D Structure
MuPIT help

- X-ray MuPIT

- X-ray MuPIT

ModBase Predicted Comparative 3D Structure on Q92871
The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  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.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologGenome BrowserNo orthologNo orthologNo orthologNo ortholog
 Gene Details    
 Gene Sorter    
 Protein Sequence    

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0004615 phosphomannomutase activity
GO:0005515 protein binding
GO:0016853 isomerase activity
GO:0046872 metal ion binding

Biological Process:
GO:0006013 mannose metabolic process
GO:0006487 protein N-linked glycosylation
GO:0009298 GDP-mannose biosynthetic process
GO:0045047 protein targeting to ER
GO:1990830 cellular response to leukemia inhibitory factor

Cellular Component:
GO:0005737 cytoplasm
GO:0005829 cytosol
GO:0043025 neuronal cell body

-  Descriptions from all associated GenBank mRNAs
  U86070 - Homo sapiens phosphomannomutase mRNA, complete cds.
LF385059 - JP 2014500723-A/192562: Polycomb-Associated Non-Coding RNAs.
BC010855 - Homo sapiens phosphomannomutase 1, mRNA (cDNA clone MGC:9074 IMAGE:3898208), complete cds.
AK094811 - Homo sapiens cDNA FLJ37492 fis, clone BRAWH2015349, highly similar to Phosphomannomutase 1.
AK130449 - Homo sapiens cDNA FLJ26939 fis, clone RCT07232, highly similar to Phosphomannomutase 1 (EC
D87810 - Homo sapiens mRNA for phosphomannomutase, complete cds.
AK289368 - Homo sapiens cDNA FLJ75943 complete cds, highly similar to Homo sapiens phosphomannomutase 1 (PMM1), mRNA.
BC016818 - Homo sapiens phosphomannomutase 1, mRNA (cDNA clone MGC:24502 IMAGE:4096204), complete cds.
U62526 - Human phosphomannomutase (PMMH-22) mRNA, complete cds.
LF337422 - JP 2014500723-A/144925: Polycomb-Associated Non-Coding RNAs.
JD459719 - Sequence 440743 from Patent EP1572962.
JD392850 - Sequence 373874 from Patent EP1572962.
JD352252 - Sequence 333276 from Patent EP1572962.
JD332519 - Sequence 313543 from Patent EP1572962.
JD138340 - Sequence 119364 from Patent EP1572962.
JD319839 - Sequence 300863 from Patent EP1572962.
JD043941 - Sequence 24965 from Patent EP1572962.
JD257281 - Sequence 238305 from Patent EP1572962.
JD271556 - Sequence 252580 from Patent EP1572962.
JD289374 - Sequence 270398 from Patent EP1572962.
JD346957 - Sequence 327981 from Patent EP1572962.
JD146516 - Sequence 127540 from Patent EP1572962.
JD398559 - Sequence 379583 from Patent EP1572962.
JD391864 - Sequence 372888 from Patent EP1572962.
CR456544 - Homo sapiens PMM1 full length open reading frame (ORF) cDNA clone (cDNA clone C22ORF:pGEM.PMM1).
CU013144 - Homo sapiens PMM1, mRNA (cDNA clone IMAGE:100000497), complete cds, with stop codon, in Gateway system.
AK316580 - Homo sapiens cDNA, FLJ94591, highly similar to Homo sapiens phosphomannomutase 1 (PMM1), mRNA.
KJ891833 - Synthetic construct Homo sapiens clone ccsbBroadEn_01227 PMM1 gene, encodes complete protein.
CU013432 - Homo sapiens PMM1, mRNA (cDNA clone IMAGE:100000401), complete cds, without stop codon, in Gateway system.
AB528210 - Synthetic construct DNA, clone: pF1KE0537, Homo sapiens PMM1 gene for phosphomannomutase 1, without stop codon, in Flexi system.
LF337423 - JP 2014500723-A/144926: Polycomb-Associated Non-Coding RNAs.
LF337424 - JP 2014500723-A/144927: Polycomb-Associated Non-Coding RNAs.
LF337427 - JP 2014500723-A/144930: Polycomb-Associated Non-Coding RNAs.
LF337428 - JP 2014500723-A/144931: Polycomb-Associated Non-Coding RNAs.
LF337429 - JP 2014500723-A/144932: Polycomb-Associated Non-Coding RNAs.
LF337430 - JP 2014500723-A/144933: Polycomb-Associated Non-Coding RNAs.
MA620636 - JP 2018138019-A/192562: Polycomb-Associated Non-Coding RNAs.
MA572999 - JP 2018138019-A/144925: Polycomb-Associated Non-Coding RNAs.
MA573000 - JP 2018138019-A/144926: Polycomb-Associated Non-Coding RNAs.
MA573001 - JP 2018138019-A/144927: Polycomb-Associated Non-Coding RNAs.
MA573004 - JP 2018138019-A/144930: Polycomb-Associated Non-Coding RNAs.
MA573005 - JP 2018138019-A/144931: Polycomb-Associated Non-Coding RNAs.
MA573006 - JP 2018138019-A/144932: Polycomb-Associated Non-Coding RNAs.
MA573007 - JP 2018138019-A/144933: Polycomb-Associated Non-Coding RNAs.

-  Biochemical and Signaling Pathways
  KEGG - Kyoto Encyclopedia of Genes and Genomes
hsa00051 - Fructose and mannose metabolism
hsa00520 - Amino sugar and nucleotide sugar metabolism
hsa01100 - Metabolic pathways

BioCyc Knowledge Library
COLANSYN-PWY - colanic acid building blocks biosynthesis
MANGDPMET-PWY - GDP-mannose metabolism
PWY-5657 - GDP-mannose biosynthesis I
PWY-5659 - GDP-mannose biosynthesis

Reactome (by CSHL, EBI, and GO)

Protein Q92871 (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

-  Other Names for This Gene
  Alternate Gene Symbols: A8K003, NM_002676, NP_002667, PMM1_HUMAN, PMMH22, Q92586, Q92871
UCSC ID: uc003bal.2
RefSeq Accession: NM_002676
Protein: Q92871 (aka PMM1_HUMAN)
CCDS: CCDS14020.1

-  Gene Model Information
category: coding nonsense-mediated-decay: no RNA accession: NM_002676.2
exon count: 8CDS single in 3' UTR: no RNA size: 1295
ORF size: 789CDS single in intron: no Alignment % ID: 100.00
txCdsPredict score: 1660.00frame shift in genome: no % Coverage: 99.07
has start codon: yes stop codon in genome: no # of Alignments: 1
has end codon: yes retained intron: no # AT/AC introns 0
selenocysteine: no end bleed into intron: 0# strange splices: 0
Click here for a detailed description of the fields of the table above.

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.