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Pmm1 phosphomannomutase 1 [ Mus musculus (house mouse) ]

Gene ID: 29858, updated on 28-Oct-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, Oct 2024]
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 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. Identification and localization of two mouse phosphomannomutase genes, Pmm1 and Pmm2. Heykants L, et al. Gene, 2001 May 30. PMID 11404002
  3. Ontogeny of D-mannose transport and metabolism in rat small intestine. Cano M, et al. J Membr Biol, 2010 Jun. PMID 20523973
  4. 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
  5. Tissue distribution of the murine phosphomannomutases Pmm1 and Pmm2 during brain development. Cromphout K, et al. Eur J Neurosci, 2005 Aug. PMID 16115222

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 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

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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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