U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

Pomt1 protein-O-mannosyltransferase 1 [ Rattus norvegicus (Norway rat) ]

Gene ID: 84430, updated on 14-Nov-2024

Summary

Go to the top of the page Help
Official Symbol
Pomt1provided by RGD
Official Full Name
protein-O-mannosyltransferase 1provided by RGD
Primary source
RGD:620078
See related
EnsemblRapid:ENSRNOG00000010477 AllianceGenome:RGD:620078
Gene type
protein coding
RefSeq status
VALIDATED
Organism
Rattus norvegicus
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Rattus
Summary
Predicted to enable mannosyltransferase activity. Involved in positive regulation of protein O-linked glycosylation. Predicted to be located in acrosomal vesicle; endoplasmic reticulum membrane; and sarcoplasmic reticulum. 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, Nov 2024]
Expression
Biased expression in Testes (RPKM 85.2), Adrenal (RPKM 60.0) and 9 other tissues See more
Orthologs
human mouse all
NEW
Try the new Gene table
Try the new Transcript table

Genomic context

Go to the top of the page Help
See Pomt1 in Genome Data Viewer
Location:
3p12
Exon count:
21
Annotation release Status Assembly Chr Location
RS_2024_02 current GRCr8 (GCF_036323735.1) 3 NC_086021.1 (35918370..35936330)
RS_2023_06 previous assembly mRatBN7.2 (GCF_015227675.2) 3 NC_051338.1 (15520717..15538579)
106 previous assembly Rnor_6.0 (GCF_000001895.5) 3 NC_005102.4 (11253424..11271873)

Chromosome 3 - NC_086021.1Genomic Context describing neighboring genes Neighboring gene proline-rich coiled-coil 2B Neighboring gene uncharacterized LOC103691765 Neighboring gene small nucleolar RNA, C/D box 62A Neighboring gene small nucleolar RNA, C/D box 62B Neighboring gene uridine-cytidine kinase 1 Neighboring gene uncharacterized LOC134486071 Neighboring gene SWI5 homologous recombination repair protein

Genomic regions, transcripts, and products

Go to the top of the page Help

Go to nucleotide: Graphics FASTA GenBank

Expression

Go to the top of the page Help
  • Project title: A rat RNA-Seq transcriptomic BodyMap across 11 organs and 4 developmental stages A rat RNA-Seq transcriptomic BodyMap across 11 organs and 4 developmental stages
  • Description: 320 RNA samples isolated from 11 organs (adrenal gland, brain, heart, kidney, liver, lung, muscle, spleen, thymus, and testes or uterus) from both sexes of Fischer 344 rats across four developmental stages (2-, 6-, 21-, and 104-weeks-old)
  • BioProject: PRJNA238328
  • Publication: PMID 24510058
  • Analysis date: Mon Jun 6 17:44:12 2016

Bibliography

Go to the top of the pageHelp

Related articles in PubMed

  1. Walker-Warburg Syndrome with POMT1 mutations can be associated with cleft lip and cleft palate. Vajsar J, et al. Neuromuscul Disord, 2008 Aug. PMID 18640039
  2. The expanding phenotype of POMT1 mutations: from Walker-Warburg syndrome to congenital muscular dystrophy, microcephaly, and mental retardation. van Reeuwijk J, et al. Hum Mutat, 2006 May. PMID 16575835
  3. Cardiomyopathy in patients with POMT1-related congenital and limb-girdle muscular dystrophy. Bello L, et al. Eur J Hum Genet, 2012 Dec. PMID 22549409, Free PMC Article
  4. Molecular cloning and characterization of rat Pomt1 and Pomt2. Manya H, et al. Glycobiology, 2006 Sep. PMID 16704966
  5. Mutations in POMT1 are found in a minority of patients with Walker-Warburg syndrome. Currier SC, et al. Am J Med Genet A, 2005 Feb 15. PMID 15637732

See all (15) citations in PubMed

GeneRIFs: Gene References Into Functions

General gene information

Go to the top of the page Help

Markers

Homology

Gene Ontology Provided by RGD

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
  
Process Evidence Code Pubs
acts_upstream_of_or_within extracellular matrix organization ISO
Inferred from Sequence Orthology
more info
  
involved_in positive regulation of protein O-linked glycosylation IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in protein O-linked mannosylation IEA
Inferred from Electronic Annotation
more info
  
involved_in protein O-linked mannosylation ISO
Inferred from Sequence Orthology
more info
  
involved_in protein O-linked mannosylation ISS
Inferred from Sequence or Structural Similarity
more info
  
Component Evidence Code Pubs
located_in acrosomal vesicle ISO
Inferred from Sequence Orthology
more info
  
part_of dolichyl-phosphate-mannose-protein mannosyltransferase complex IEA
Inferred from Electronic Annotation
more info
  
part_of dolichyl-phosphate-mannose-protein mannosyltransferase complex ISO
Inferred from Sequence Orthology
more info
  
located_in endoplasmic reticulum membrane IEA
Inferred from Electronic Annotation
more info
  
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 ISO
Inferred from Sequence Orthology
more info
  

General protein information

Go to the top of the page Help
Preferred Names
protein O-mannosyl-transferase 1
Names
dolichyl-phosphate-mannose--protein mannosyltransferase 1
NP_445858.1
XP_038961907.1
XP_063140780.1

NCBI Reference Sequences (RefSeq)

Go to the top of the page Help

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_053406.2 → NP_445858.1  protein O-mannosyl-transferase 1

    See identical proteins and their annotated locations for NP_445858.1

    Status: VALIDATED

    Source sequence(s)
    AF192388, BC070912, DY309994
    UniProtKB/Swiss-Prot
    Q6IRI2, Q99PR0
    UniProtKB/TrEMBL
    A0A0G2K523, A6JU44
    Related
    ENSRNOP00000073262.1, ENSRNOT00000082794.3
    Conserved Domains (1) summary
    COG1928
    Location:22 → 742
    PMT1; Dolichyl-phosphate-mannose--protein O-mannosyl transferase [Posttranslational modification, protein turnover, chaperones]

RefSeqs of Annotated Genomes: GCF_036323735.1-RS_2024_02

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

Reference GRCr8

Genomic

  1. NC_086021.1 Reference GRCr8

    Range
    35918370..35936330
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_063284710.1 → XP_063140780.1  protein O-mannosyl-transferase 1 isoform X2

  2. XM_039105979.2 → XP_038961907.1  protein O-mannosyl-transferase 1 isoform X1

    UniProtKB/Swiss-Prot
    Q6IRI2, Q99PR0
    UniProtKB/TrEMBL
    A0A0G2K523, A6JU44
    Related
    ENSRNOP00000015214.4, ENSRNOT00000015214.6
    Conserved Domains (1) summary
    COG1928
    Location:22 → 742
    PMT1; Dolichyl-phosphate-mannose--protein O-mannosyl transferase [Posttranslational modification, protein turnover, chaperones]

RNA

  1. XR_005501994.2 RNA Sequence

Nucleotide Protein Strain
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q99PR0.1 GenPept UniProtKB/Swiss-Prot:Q99PR0

Gene LinkOut

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

Chemical Information
Molecular Biology Databases
Research Materials
Tools
Miscellaneous