U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

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

Gene ID: 99011, updated on 12-May-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. Is expressed in several structures, including central nervous system; eye; gonad; heart; and hemolymphoid system gland. Used to study muscular dystrophy-dystroglycanopathy. 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, Apr 2022]
Expression
Broad expression in testis adult (RPKM 73.5), ovary adult (RPKM 25.7) and 26 other tissues See more
Orthologs
NEW
Try the new Gene table
Try the new Transcript table

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 glycosyltransferase activity IEA
Inferred from Electronic Annotation
more info
 
enables mannosyltransferase activity ISO
Inferred from Sequence Orthology
more info
 
enables transferase activity IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
located_in acrosomal vesicle IDA
Inferred from Direct Assay
more info
PubMed 
located_in endoplasmic reticulum IEA
Inferred from Electronic Annotation
more info
 
located_in endoplasmic reticulum membrane ISO
Inferred from Sequence Orthology
more info
 
located_in membrane IEA
Inferred from Electronic Annotation
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