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Aliases for PMM1 Gene

Aliases for PMM1 Gene

  • Phosphomannomutase 1 2 3 3 5
  • Brain Glucose-1,6-Bisphosphatase 2 3
  • PMMH-22 3 4
  • PMM 1 3 4
  • EC 5.4.2.8 4
  • PMMH22 4
  • Sec53 3

External Ids for PMM1 Gene

Previous GeneCards Identifiers for PMM1 Gene

  • GC22M038587
  • GC22M040215
  • GC22M040297
  • GC22M041972
  • GC22M024938

Summaries for PMM1 Gene

Entrez Gene Summary for PMM1 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]

GeneCards Summary for PMM1 Gene

PMM1 (Phosphomannomutase 1) is a Protein Coding gene. Diseases associated with PMM1 include Congenital Disorder Of Glycosylation, Type In. Among its related pathways are Fructose and mannose metabolism and Metabolism of proteins. Gene Ontology (GO) annotations related to this gene include phosphomannomutase activity. An important paralog of this gene is PMM2.

UniProtKB/Swiss-Prot for PMM1 Gene

  • 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.

Gene Wiki entry for PMM1 Gene

Additional gene information for PMM1 Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for PMM1 Gene

Genomics for PMM1 Gene

GeneHancer (GH) Regulatory Elements for PMM1 Gene

Promoters and enhancers for PMM1 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH22J041587 Promoter/Enhancer 2 EPDnew Ensembl ENCODE 660.7 +0.9 870 3.5 HDGF FOXA2 ARID4B SIN3A ZNF2 YY1 POLR2B E2F8 ZNF207 SP3 PMM1 MEI1 DESI1 RRP7BP CYP2D8P SLC25A17 L3MBTL2 ENSG00000235513 GC22M043024
GH22J041379 Promoter/Enhancer 2.5 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 11.4 +207.9 207927 4 HDGF PKNOX1 CLOCK FOXA2 MLX ARID4B SIN3A YY1 ZNF213 FOS LOC105373042 TEF EP300 MEI1 POLR3H EP300-AS1 ENSG00000272834 XRCC6 PHF5A LOC100313968
GH22J041618 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE dbSUPER 9.6 -30.7 -30725 4.1 HDGF PKNOX1 MLX ARID4B SIN3A DMAP1 ZNF2 YY1 SLC30A9 POLR2B DESI1 XRCC6 MEI1 RRP7BP L3MBTL2 PMM1 ENSG00000235513 CSDC2 GC22M042997
GH22J041204 Promoter/Enhancer 2 EPDnew Ensembl ENCODE 9.2 +384.3 384334 1.8 HDGF PKNOX1 SMAD1 ARID4B SIN3A DMAP1 ZNF2 YY1 SLC30A9 POLR2B L3MBTL2 EP300 ENSG00000272834 ENSG00000232754 XRCC6 ENSG00000227413 NAGA EP300-AS1 RPL4P6 MKL1
GH22J041284 Promoter/Enhancer 2.6 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 6.1 +301.6 301569 8.1 FEZF1 DMAP1 YY1 SLC30A9 E2F8 ZNF143 SP3 NFYC SSRP1 ZNF610 RANGAP1 EP300 XRCC6 ENSG00000272834 EP300-AS1 ENSG00000232754 ENSG00000227413 L3MBTL2 NAGA ZC3H7B
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around PMM1 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the PMM1 gene promoter:
  • ATF6
  • XBP-1
  • AML1a
  • c-Myb
  • ATF-2
  • MZF-1
  • STAT5B
  • STAT5A

Genomic Locations for PMM1 Gene

Genomic Locations for PMM1 Gene
chr22:41,576,886-41,589,890
(GRCh38/hg38)
Size:
13,005 bases
Orientation:
Minus strand
chr22:41,972,890-41,985,894
(GRCh37/hg19)
Size:
13,005 bases
Orientation:
Minus strand

Genomic View for PMM1 Gene

Genes around PMM1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
PMM1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for PMM1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for PMM1 Gene

Proteins for PMM1 Gene

  • Protein details for PMM1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q92871-PMM1_HUMAN
    Recommended name:
    Phosphomannomutase 1
    Protein Accession:
    Q92871
    Secondary Accessions:
    • A8K003
    • Q92586

    Protein attributes for PMM1 Gene

    Size:
    262 amino acids
    Molecular mass:
    29747 Da
    Cofactor:
    Name=Mg(2+); Xref=ChEBI:CHEBI:18420;
    Quaternary structure:
    • Homodimer.

    Three dimensional structures from OCA and Proteopedia for PMM1 Gene

neXtProt entry for PMM1 Gene

Post-translational modifications for PMM1 Gene

  • Ubiquitination at isoforms=41 and isoforms=30
  • Modification sites at PhosphoSitePlus

Other Protein References for PMM1 Gene

No data available for DME Specific Peptides for PMM1 Gene

Domains & Families for PMM1 Gene

Gene Families for PMM1 Gene

HGNC:
Human Protein Atlas (HPA):
  • Enzymes
  • Predicted intracellular proteins

Protein Domains for PMM1 Gene

Suggested Antigen Peptide Sequences for PMM1 Gene

Graphical View of Domain Structure for InterPro Entry

Q92871

UniProtKB/Swiss-Prot:

PMM1_HUMAN :
  • Belongs to the eukaryotic PMM family.
Family:
  • Belongs to the eukaryotic PMM family.
genes like me logo Genes that share domains with PMM1: view

Function for PMM1 Gene

Molecular function for PMM1 Gene

UniProtKB/Swiss-Prot 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.
UniProtKB/Swiss-Prot CatalyticActivity:
Alpha-D-mannose 1-phosphate = D-mannose 6-phosphate.
UniProtKB/Swiss-Prot EnzymeRegulation:
IMP, a metabolite whose concentration is elevated in anoxia, inhibits phosphomannomutase and phosphoglucomutase activities and strongly enhances glucose-1,6-bisphosphatase activity.
UniProtKB/Swiss-Prot BiophysicochemicalProperties:
Kinetic parameters: KM=54 uM for alpha-D-mannose 1-phosphate {ECO:0000269 PubMed:16540464}; KM=7.5 uM for alpha-D-glucose 1-phosphate {ECO:0000269 PubMed:16540464};
GENATLAS Biochemistry:
phosphomannomutase,29kDa,yeast SEC53 homolog,catalyzing the second step in the conversion of fructose-6P to GDP-mannose,expressed in liver,brain,heart and pancreas,involved in the glycosylation of glycoconjugates

Enzyme Numbers (IUBMB) for PMM1 Gene

Phenotypes From GWAS Catalog for PMM1 Gene

Gene Ontology (GO) - Molecular Function for PMM1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004615 phosphomannomutase activity TAS --
GO:0005515 protein binding IPI 16189514
GO:0016853 isomerase activity IEA --
GO:0046872 metal ion binding IEA --
genes like me logo Genes that share ontologies with PMM1: view
genes like me logo Genes that share phenotypes with PMM1: view

Animal Models for PMM1 Gene

MGI Knock Outs for PMM1:
  • Pmm1 Pmm1<tm1Gmat>

Animal Model Products

  • Taconic Biosciences Mouse Models for PMM1

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for PMM1

No data available for Human Phenotype Ontology , miRNA , Transcription Factor Targets and HOMER Transcription for PMM1 Gene

Localization for PMM1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for PMM1 Gene

Cytoplasm.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for PMM1 gene
Compartment Confidence
cytosol 5
nucleus 3
endoplasmic reticulum 2
mitochondrion 1
peroxisome 1
golgi apparatus 1

Gene Ontology (GO) - Cellular Components for PMM1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IEA --
GO:0005829 cytosol IBA,TAS --
GO:0043025 neuronal cell body IEA --
genes like me logo Genes that share ontologies with PMM1: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for PMM1 Gene

Pathways & Interactions for PMM1 Gene

genes like me logo Genes that share pathways with PMM1: view

UniProtKB/Swiss-Prot Q92871-PMM1_HUMAN

  • Pathway: Nucleotide-sugar biosynthesis; GDP-alpha-D-mannose biosynthesis; alpha-D-mannose 1-phosphate from D-fructose 6-phosphate: step 2/2.

Gene Ontology (GO) - Biological Process for PMM1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006013 mannose metabolic process IDA,TAS 16540464
GO:0006487 protein N-linked glycosylation IBA --
GO:0009298 GDP-mannose biosynthetic process TAS --
GO:0045047 protein targeting to ER IBA --
GO:1990830 cellular response to leukemia inhibitory factor IEA --
genes like me logo Genes that share ontologies with PMM1: view

No data available for SIGNOR curated interactions for PMM1 Gene

Drugs & Compounds for PMM1 Gene

(2) Drugs for PMM1 Gene - From: HMDB and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
D-Mannose 1-phosphate Experimental Pharma 0
Mannose 6-phosphate Investigational Pharma 0

(1) Additional Compounds for PMM1 Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with PMM1: view

Transcripts for PMM1 Gene

Unigene Clusters for PMM1 Gene

Phosphomannomutase 1:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for PMM1

Alternative Splicing Database (ASD) splice patterns (SP) for PMM1 Gene

ExUns: 1a · 1b · 1c · 1d ^ 2 ^ 3a · 3b ^ 4a · 4b ^ 5a · 5b · 5c · 5d · 5e ^ 6a · 6b ^ 7a · 7b ^ 8a · 8b ^ 9a · 9b · 9c
SP1: - - - - - -
SP2: - - - - - - -
SP3: - - - - - - - - - -
SP4: - - - - - - -
SP5: - -
SP6: - - - -
SP7: - - -
SP8: - -
SP9: - -
SP10:
SP11: - -

Relevant External Links for PMM1 Gene

GeneLoc Exon Structure for
PMM1
ECgene alternative splicing isoforms for
PMM1

Expression for PMM1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for PMM1 Gene

Protein differential expression in normal tissues from HIPED for PMM1 Gene

This gene is overexpressed in Bone marrow stromal cell (31.4).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for PMM1 Gene



NURSA nuclear receptor signaling pathways regulating expression of PMM1 Gene:

PMM1

SOURCE GeneReport for Unigene cluster for PMM1 Gene:

Hs.75835

mRNA Expression by UniProt/SwissProt for PMM1 Gene:

Q92871-PMM1_HUMAN
Tissue specificity: Strong expression in liver, heart, brain, and pancreas; lower expression in skeletal muscle.

Evidence on tissue expression from TISSUES for PMM1 Gene

  • Nervous system(4.7)
  • Liver(4.2)
  • Muscle(4.2)
  • Pancreas(4.2)
  • Skin(2.1)
genes like me logo Genes that share expression patterns with PMM1: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , Protein tissue co-expression partners and Phenotype-based relationships between genes and organs from Gene ORGANizer for PMM1 Gene

Orthologs for PMM1 Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for PMM1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia PMM1 34 33
  • 99.75 (n)
OneToOne
dog
(Canis familiaris)
Mammalia PMM1 34 33
  • 93.59 (n)
OneToOne
cow
(Bos Taurus)
Mammalia PMM1 34 33
  • 92.24 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Pmm1 16 34 33
  • 90.46 (n)
rat
(Rattus norvegicus)
Mammalia Pmm1 33
  • 90.33 (n)
oppossum
(Monodelphis domestica)
Mammalia PMM1 34
  • 90 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia PMM1 34
  • 89 (a)
OneToOne
chicken
(Gallus gallus)
Aves PMM1 34 33
  • 83.51 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia PMM1 34
  • 84 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia pmm2 33
  • 71.61 (n)
African clawed frog
(Xenopus laevis)
Amphibia Xl.20838 33
zebrafish
(Danio rerio)
Actinopterygii PMM1 34
  • 67 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta CG10688 34 35
  • 51 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea F52B11.2 34 35
  • 53 (a)
OneToMany
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes SEC53 34
  • 56 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 58 (a)
OneToMany
Species where no ortholog for PMM1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for PMM1 Gene

ENSEMBL:
Gene Tree for PMM1 (if available)
TreeFam:
Gene Tree for PMM1 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for PMM1: view image

Paralogs for PMM1 Gene

Paralogs for PMM1 Gene

(1) SIMAP similar genes for PMM1 Gene using alignment to 2 proteins:

  • PMM1_HUMAN
  • F8WFD5_HUMAN
genes like me logo Genes that share paralogs with PMM1: view

Variants for PMM1 Gene

Sequence variations from dbSNP and Humsavar for PMM1 Gene

SNP ID Clin Chr 22 pos Variation AA Info Type
rs1000042826 -- 41,587,128(-) G/T intron_variant
rs1000098396 -- 41,580,574(-) C/T intron_variant
rs1000126999 -- 41,580,006(-) C/T intron_variant
rs1000499164 -- 41,580,267(-) G/T intron_variant
rs1000841928 -- 41,579,633(-) C/T intron_variant

Structural Variations from Database of Genomic Variants (DGV) for PMM1 Gene

Variant ID Type Subtype PubMed ID
esv3647800 CNV gain 21293372
nsv1055166 CNV gain 25217958
nsv3639 CNV insertion 18451855
nsv516925 CNV loss 19592680
nsv524585 CNV loss 19592680
nsv834209 CNV loss 17160897

Variation tolerance for PMM1 Gene

Residual Variation Intolerance Score: 42.5% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.29; 25.61% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for PMM1 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
PMM1

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for PMM1 Gene

Disorders for PMM1 Gene

MalaCards: The human disease database

(1) MalaCards diseases for PMM1 Gene - From: DISEASES

Disorder Aliases PubMed IDs
congenital disorder of glycosylation, type in
  • cdg1n
- elite association - COSMIC cancer census association via MalaCards
Search PMM1 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for PMM1

genes like me logo Genes that share disorders with PMM1: view

No data available for UniProtKB/Swiss-Prot and Genatlas for PMM1 Gene

Publications for PMM1 Gene

  1. Isolation of the human phosphomannomutase gene (PMM1) and assignment to chromosome 22q13. (PMID: 9119384) Wada Y … Sakamoto M (Genomics 1997) 3 4 22 58
  2. PMM (PMM1), the human homologue of SEC53 or yeast phosphomannomutase, is localized on chromosome 22q13. (PMID: 9070917) Matthijs G … Cassiman JJ (Genomics 1997) 2 3 4 58
  3. Comparison of PMM1 with the phosphomannomutases expressed in rat liver and in human cells. (PMID: 9271215) Pirard M … Van Schaftingen E (FEBS letters 1997) 2 3 22 58
  4. The X-ray crystal structures of human alpha-phosphomannomutase 1 reveal the structural basis of congenital disorder of glycosylation type 1a. (PMID: 16540464) Silvaggi NR … Allen KN (The Journal of biological chemistry 2006) 3 4 58
  5. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 58

Products for PMM1 Gene

Sources for PMM1 Gene

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