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

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: human all
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Genomic context

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_000068.8 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

-mannosylation of alpha-DG in the retina carried out by POMT1 is crucial for the establishment of proper synapses at the OPL and transmission of visual information from cones and rods to their postsynaptic neurons.
Title: Impairment of photoreceptor ribbon synapses in a novel Pomt1 conditional knockout mouse model of dystroglycanopathy.
during embryogenesis, Pomt1 is expressed in the neural tube, the developing eye, and the mesenchyme; targeted deletion of Pomt1 results in early embryonic lethality due to defects in the assembly of Reichert's membrane
Title: Targeted disruption of the Walker-Warburg syndrome gene Pomt1 in mouse results in embryonic lethality.

Submit: New GeneRIF Correction

Variation

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Alleles

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

Endonuclease-mediated (1)
Gene trapped (1)
Targeted (3) 1 citation

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

AI505244 (e-PCR)
- UniSTS:164154

AI528556 (e-PCR)
- UniSTS:179454

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

Process	Evidence Code	Pubs
acts_upstream_of_or_within extracellular matrix organization	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of protein O-linked glycosylation	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of protein O-linked glycosylation	ISO Inferred from Sequence Orthology 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	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

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Preferred Names: protein O-mannosyl-transferase 1

Names: dolichyl-phosphate-mannose--protein mannosyltransferase 1

NP_001411588.1

EC 2.4.1.109

NP_001411589.1

EC 2.4.1.109

NP_001411590.1

EC 2.4.1.109

NP_001411591.1

EC 2.4.1.109

NP_660127.1

EC 2.4.1.109

XP_006498536.1

EC 2.4.1.109

XP_030108128.1

EC 2.4.1.109

XP_036018638.1

EC 2.4.1.109

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)

NM_001424659.1 → NP_001411588.1 protein O-mannosyl-transferase 1 isoform 2

Status: VALIDATED

Source sequence(s)

AL808027
NM_001424660.1 → NP_001411589.1 protein O-mannosyl-transferase 1 isoform 3

Status: VALIDATED

Source sequence(s)

AL808027
NM_001424661.1 → NP_001411590.1 protein O-mannosyl-transferase 1 isoform 4

Status: VALIDATED

Source sequence(s)

AL808027
NM_001424662.1 → NP_001411591.1 protein O-mannosyl-transferase 1 isoform 5

Status: VALIDATED

Source sequence(s)

AL808027
NM_145145.3 → NP_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:321 → 378

MIR; Domain in ryanodine and inositol trisphosphate receptors and protein O-mannosyltransferases

COG1928
Location:54 → 742

PMT1; Dolichyl-phosphate-mannose--protein O-mannosyl transferase [Posttranslational modification, protein turnover, chaperones]

pfam02366
Location:54 → 289

PMT; Dolichyl-phosphate-mannose-protein mannosyltransferase

pfam16192
Location:542 → 740

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

NC_000068.8 Reference GRCm39 C57BL/6J

Range

32126321..32145017

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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

Conserved Domains (1) summary

COG1928
Location:56 → 713

PMT1; Dolichyl-phosphate-mannose--protein O-mannosyl transferase [Posttranslational modification, protein turnover, chaperones]
XM_030252268.1 → XP_030108128.1 protein O-mannosyl-transferase 1 isoform X4

Conserved Domains (2) summary

pfam02815
Location:22 → 157

MIR; MIR domain

pfam16192
Location:207 → 401

PMT_4TMC; C-terminal four TMM region of protein-O-mannosyltransferase
XM_006498473.1 → XP_006498536.1 protein O-mannosyl-transferase 1 isoform X3

Conserved Domains (1) summary

COG1928
Location:2 → 515

PMT1; Dolichyl-phosphate-mannose--protein O-mannosyl transferase [Posttranslational modification, protein turnover, chaperones]