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    Pmm1 phosphomannomutase 1 [ Mus musculus (house mouse) ]

    Gene ID: 29858, updated on 9-Dec-2024

    Summary

    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, Dec 2024]
    Expression
    Ubiquitous expression in cortex adult (RPKM 55.9), frontal lobe adult (RPKM 52.6) and 27 other tissues See more
    Orthologs
    NEW
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    Genomic context

    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

    Expression

    • 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

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Variation

    Alleles

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

    Pathways from PubChem

    General gene information

    Markers

    Gene Ontology Provided by MGI

    Function Evidence Code Pubs
    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
     
    enables phosphomannomutase activity ISS
    Inferred from Sequence or Structural Similarity
    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 mannose metabolic process ISS
    Inferred from Sequence or Structural Similarity
    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 IEA
    Inferred from Electronic Annotation
    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

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

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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_001282040.1NP_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:17178
      HAD-SF-IIB; HAD-superfamily hydrolase, subfamily IIB
      cl21460
      Location:34196
      HAD_like; Haloacid Dehalogenase-like Hydrolases
    2. NM_001282041.1NP_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:86197
      HAD_like; Haloacid Dehalogenase-like Hydrolases
    3. NM_013872.4NP_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:15253
      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)