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    Pomt1 protein-O-mannosyltransferase 1 [ Mus musculus (house mouse) ]

    Gene ID: 99011, updated on 9-Dec-2024

    Summary

    Official Symbol
    Pomt1provided by MGI
    Official Full Name
    protein-O-mannosyltransferase 1provided by MGI
    Primary source
    MGI:MGI:2138994
    See related
    Ensembl:ENSMUSG00000039254 AllianceGenome:MGI:2138994
    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 mannosyltransferase activity. Acts upstream of or within extracellular matrix organization. Located in acrosomal vesicle and sarcoplasmic reticulum. Part of dolichyl-phosphate-mannose-protein mannosyltransferase complex. Is expressed in several structures, including central nervous system; eye; germ cell of gonad; heart; and hemolymphoid system gland. Used to study muscular dystrophy-dystroglycanopathy type B1. Human ortholog(s) of this gene implicated in cardiomyopathy; cleft lip; lissencephaly; and muscular dystrophy (multiple). Orthologous to human POMT1 (protein O-mannosyltransferase 1). [provided by Alliance of Genome Resources, Dec 2024]
    Expression
    Broad expression in testis adult (RPKM 73.5), ovary adult (RPKM 25.7) and 26 other tissues See more
    Orthologs
    NEW
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    Genomic context

    See Pomt1 in Genome Data Viewer
    Location:
    2 B; 2 22.09 cM
    Exon count:
    21
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) 2 NC_000068.8 (32126321..32145017)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 2 NC_000068.7 (32236590..32255005)

    Chromosome 2 - NC_000068.8Genomic Context describing neighboring genes Neighboring gene proline-rich coiled-coil 2B Neighboring gene predicted gene, 22192 Neighboring gene predicted gene, 25632 Neighboring gene STARR-positive B cell enhancer ABC_E10094 Neighboring gene uridine-cytidine kinase 1 Neighboring gene 60S ribosomal protein L36 pseudogene Neighboring gene STARR-positive B cell enhancer ABC_E9197 Neighboring gene SWI5 recombination repair homolog (yeast)

    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

    Variation

    Alleles

    Alleles of this type are documented at Mouse Genome Informatics  (MGI)
    • Endonuclease-mediated (1) 
    • Gene trapped (1) 
    • Targeted (3)  1 citation

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Gene Ontology Provided by MGI

    Function Evidence Code Pubs
    enables dolichyl-phosphate-mannose-protein mannosyltransferase activity IEA
    Inferred from Electronic Annotation
    more info
     
    enables mannosyltransferase activity ISO
    Inferred from Sequence Orthology
    more info
     
    enables mannosyltransferase activity ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    Component Evidence Code Pubs
    located_in acrosomal vesicle IDA
    Inferred from Direct Assay
    more info
    PubMed 
    part_of dolichyl-phosphate-mannose-protein mannosyltransferase complex IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in endoplasmic reticulum membrane ISO
    Inferred from Sequence Orthology
    more info
     
    located_in endoplasmic reticulum membrane ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    located_in sarcoplasmic reticulum IDA
    Inferred from Direct Assay
    more info
    PubMed 

    General protein information

    Preferred Names
    protein O-mannosyl-transferase 1
    Names
    dolichyl-phosphate-mannose--protein mannosyltransferase 1
    NP_001411588.1
    NP_001411589.1
    NP_001411590.1
    NP_001411591.1
    NP_660127.1
    XP_006498536.1
    XP_030108128.1
    XP_036018638.1

    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_001424659.1NP_001411588.1  protein O-mannosyl-transferase 1 isoform 2

      Status: VALIDATED

      Source sequence(s)
      AL808027
    2. NM_001424660.1NP_001411589.1  protein O-mannosyl-transferase 1 isoform 3

      Status: VALIDATED

      Source sequence(s)
      AL808027
    3. NM_001424661.1NP_001411590.1  protein O-mannosyl-transferase 1 isoform 4

      Status: VALIDATED

      Source sequence(s)
      AL808027
    4. NM_001424662.1NP_001411591.1  protein O-mannosyl-transferase 1 isoform 5

      Status: VALIDATED

      Source sequence(s)
      AL808027
    5. NM_145145.3NP_660127.1  protein O-mannosyl-transferase 1 isoform 1

      See identical proteins and their annotated locations for NP_660127.1

      Status: VALIDATED

      Source sequence(s)
      AL808027
      Consensus CDS
      CCDS15908.1
      UniProtKB/Swiss-Prot
      Q3UYD8, Q64J18, Q8BPJ6, Q8BPU1, Q8R2R1, Q8R474
      Related
      ENSMUSP00000038722.10, ENSMUST00000036473.16
      Conserved Domains (4) summary
      smart00472
      Location:321378
      MIR; Domain in ryanodine and inositol trisphosphate receptors and protein O-mannosyltransferases
      COG1928
      Location:54742
      PMT1; Dolichyl-phosphate-mannose--protein O-mannosyl transferase [Posttranslational modification, protein turnover, chaperones]
      pfam02366
      Location:54289
      PMT; Dolichyl-phosphate-mannose-protein mannosyltransferase
      pfam16192
      Location:542740
      PMT_4TMC; C-terminal four TMM region of protein-O-mannosyltransferase

    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_000068.8 Reference GRCm39 C57BL/6J

      Range
      32126321..32145017
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_036162745.1XP_036018638.1  protein O-mannosyl-transferase 1 isoform X2

      Conserved Domains (1) summary
      COG1928
      Location:56713
      PMT1; Dolichyl-phosphate-mannose--protein O-mannosyl transferase [Posttranslational modification, protein turnover, chaperones]
    2. XM_030252268.1XP_030108128.1  protein O-mannosyl-transferase 1 isoform X4

      Conserved Domains (2) summary
      pfam02815
      Location:22157
      MIR; MIR domain
      pfam16192
      Location:207401
      PMT_4TMC; C-terminal four TMM region of protein-O-mannosyltransferase
    3. XM_006498473.1XP_006498536.1  protein O-mannosyl-transferase 1 isoform X3

      Conserved Domains (1) summary
      COG1928
      Location:2515
      PMT1; Dolichyl-phosphate-mannose--protein O-mannosyl transferase [Posttranslational modification, protein turnover, chaperones]

    RNA

    1. XR_004940787.1 RNA Sequence

    2. XR_004940788.1 RNA Sequence

    3. XR_004940786.1 RNA Sequence

    4. XR_004940789.1 RNA Sequence

    5. XR_004940790.1 RNA Sequence