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    Pmm1 phosphomannomutase 1 [ Mus musculus (house mouse) ]

    Gene ID: 29858, updated on 5-Mar-2024

    Summary

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    Official Symbol
    Pmm1provided by MGI
    Official Full Name
    phosphomannomutase 1provided by MGI
    Primary source
    MGI:MGI:1353418
    See related
    Ensembl:ENSMUSG00000022474 AllianceGenome:MGI:1353418
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Mus musculus
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
    Summary
    Predicted to enable phosphomannomutase activity. Acts upstream of or within cellular response to leukemia inhibitory factor. Located in cytoplasm and neuronal cell body. Is expressed in axial skeleton; genitourinary system; integumental system; limb; and nervous system. Orthologous to human PMM1 (phosphomannomutase 1). [provided by Alliance of Genome Resources, Apr 2022]
    Expression
    Ubiquitous expression in cortex adult (RPKM 55.9), frontal lobe adult (RPKM 52.6) and 27 other tissues See more
    Orthologs
    human all
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    Genomic context

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    See Pmm1 in Genome Data Viewer
    Location:
    15 E1; 15 38.3 cM
    Exon count:
    9
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) 15 NC_000081.7 (81835307..81845131, complement)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 15 NC_000081.6 (81951106..81960930, complement)

    Chromosome 15 - NC_000081.7Genomic Context describing neighboring genes Neighboring gene aconitase 2, mitochondrial Neighboring gene polymerase (RNA) III (DNA directed) polypeptide H Neighboring gene STARR-positive B cell enhancer ABC_E2447 Neighboring gene cold shock domain containing C2, RNA binding Neighboring gene STARR-seq mESC enhancer starr_39275 Neighboring gene STARR-seq mESC enhancer starr_39276 Neighboring gene STARR-seq mESC enhancer starr_39278 Neighboring gene cytochrome P450, family 2, subfamily d, polypeptide 67, pseudogene Neighboring gene 40S ribosomal protein S14

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: Mouse ENCODE transcriptome data
    • Description: RNA profiling data sets generated by the Mouse ENCODE project.
    • BioProject: PRJNA66167
    • Publication: PMID 25409824
    • Analysis date: n/a

    Bibliography

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    Related articles in PubMed

    1. Mammalian phosphomannomutase PMM1 is the brain IMP-sensitive glucose-1,6-bisphosphatase. Veiga-da-Cunha M, et al. J Biol Chem, 2008 Dec 5. PMID 18927083, Free PMC Article
    2. Ontogeny of D-mannose transport and metabolism in rat small intestine. Cano M, et al. J Membr Biol, 2010 Jun. PMID 20523973
    3. Identification and localization of two mouse phosphomannomutase genes, Pmm1 and Pmm2. Heykants L, et al. Gene, 2001 May 30. PMID 11404002
    4. Tissue distribution of the murine phosphomannomutases Pmm1 and Pmm2 during brain development. Cromphout K, et al. Eur J Neurosci, 2005 Aug. PMID 16115222
    5. Isolation of the murine intercellular adhesion molecule 1 (ICAM-1) gene. ICAM-1 enhances antigen-specific T cell activation. Siu G, et al. J Immunol, 1989 Dec 1. PMID 2479693

    See all (28) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Pmm1 activity in jejunum increased during the early stages of life, and it decreased at 1 month old, as does the amount of mannose incorporated into glycoproteins, whereas in the ileum, they were not affected by age.
      Title: Ontogeny of D-mannose transport and metabolism in rat small intestine.
    2. PMM1 is responsible for the degradation of Glc-1,6-P(2) in brain
      Title: Mammalian phosphomannomutase PMM1 is the brain IMP-sensitive glucose-1,6-bisphosphatase.
    3. Pmm1 immunoreactivity seen in prenatal brain until postnatal and adult stage and restricted in neuronal cell bodies.
      Title: Tissue distribution of the murine phosphomannomutases Pmm1 and Pmm2 during brain development.
    4. The normal phenotype of Pmm1-deficient mice suggests that Pmm1 is not essential for normal mouse development.
      Title: The normal phenotype of Pmm1-deficient mice suggests that Pmm1 is not essential for normal mouse development.
    Submit: New GeneRIF Correction

    Variation

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    Alleles

    Alleles of this type are documented at Mouse Genome Informatics  (MGI)

    Pathways from PubChem

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    General gene information

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    Markers

    Homology

    Gene Ontology Provided by MGI

    Function Evidence Code Pubs
    enables isomerase activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables metal ion binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables phosphomannomutase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables phosphomannomutase activity ISO
    Inferred from Sequence Orthology
    more info
    		  
    Process Evidence Code Pubs
    involved_in GDP-mannose biosynthetic process IEA
    Inferred from Electronic Annotation
    more info
    		  
    acts_upstream_of_or_within cellular response to leukemia inhibitory factor IEP
    Inferred from Expression Pattern
    more info
    		 PubMed 
    involved_in mannose metabolic process IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in mannose metabolic process ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in protein N-linked glycosylation IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Component Evidence Code Pubs
    located_in cytoplasm IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    is_active_in cytosol IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in cytosol ISO
    Inferred from Sequence Orthology
    more info
    		  
    located_in neuronal cell body IDA
    Inferred from Direct Assay
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    phosphomannomutase 1
    Names
    PMM 1
    Secp53 homolog
    NP_001268969.1
    NP_001268970.1
    NP_038900.1

    NCBI Reference Sequences (RefSeq)

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    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    mRNA and Protein(s)

    1. NM_001282040.1 → NP_001268969.1  phosphomannomutase 1 isoform 2

      See identical proteins and their annotated locations for NP_001268969.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) uses an alternate in-frame splice site and lacks an in-frame exon in the 5' coding region, compared to variant 1. The encoded isoform (2) is shorter, compared to isoform 1.
      Source sequence(s)
      AK166999, BI731755, CX217041
      Consensus CDS
      CCDS70650.1
      UniProtKB/TrEMBL
      Q91W01
      Related
      ENSMUSP00000071405.7, ENSMUST00000071462.7
      Conserved Domains (2) summary
      TIGR01484
      Location:17 → 178
      HAD-SF-IIB; HAD-superfamily hydrolase, subfamily IIB
      cl21460
      Location:34 → 196
      HAD_like; Haloacid Dehalogenase-like Hydrolases

    2. NM_001282041.1 → NP_001268970.1  phosphomannomutase 1 isoform 3

      Status: VALIDATED

      Description
      Transcript Variant: This variant (3) has multiple differences in the 5' coding region and initiates translation at an alternate start codon, which results in a translational frameshift, compared to variant 1. The encoded isoform (3) has a shorter and distinct N-terminus, compared to isoform 1.
      Source sequence(s)
      AK166999, BI731755, CX217041
      UniProtKB/TrEMBL
      Q545Q8
      Conserved Domains (1) summary
      cl21460
      Location:86 → 197
      HAD_like; Haloacid Dehalogenase-like Hydrolases

    3. NM_013872.4 → NP_038900.1  phosphomannomutase 1 isoform 1

      See identical proteins and their annotated locations for NP_038900.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (1).
      Source sequence(s)
      AK166999, BI731755, CX217041
      Consensus CDS
      CCDS27678.1
      UniProtKB/Swiss-Prot
      O35621
      UniProtKB/TrEMBL
      Q545Q8
      Related
      ENSMUSP00000023112.6, ENSMUST00000023112.12
      Conserved Domains (1) summary
      cd02585
      Location:15 → 253
      HAD_PMM; phosphomannomutase, similar to human PMM1 and PMM2, Saccharomyces Sec53p, and Arabidopsis thaliana PMM

    RNA

    1. NR_177968.1 RNA Sequence

      Status: VALIDATED

      Source sequence(s)
      AC102103
      Related
      ENSMUST00000229385.2

    RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCm39 C57BL/6J

    Genomic

    1. NC_000081.7 Reference GRCm39 C57BL/6J

      Range
      81835307..81845131 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein Strain
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    O35621.1 GenPept UniProtKB/Swiss-Prot:O35621

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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