POMT1 (protein O-mannosyltransferase 1)

2009-08-01  

Identity

HGNC
POMT1
LOCATION
9q34.13
LOCUSID
10585
ALIAS
LGMD2K,LGMDR11,MDDGA1,MDDGB1,MDDGC1,RT
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 10585
MIM: 607423
HGNC: 9202
Ensembl: ENSG00000130714

Variants:

dbSNP: 10585
ClinVar: 10585
TCGA: ENSG00000130714
COSMIC: POMT1

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000130714ENST00000341012Q9Y6A1
ENSG00000130714ENST00000372220Q5JT02
ENSG00000130714ENST00000372228Q9Y6A1
ENSG00000130714ENST00000402686Q9Y6A1
ENSG00000130714ENST00000402686A0A140VKE0
ENSG00000130714ENST00000404875Q9Y6A1
ENSG00000130714ENST00000415075Q5JT04
ENSG00000130714ENST00000418774Q5JSZ6
ENSG00000130714ENST00000423007Q9Y6A1
ENSG00000130714ENST00000423007A0A140VKE0
ENSG00000130714ENST00000430619Q5JT05
ENSG00000130714ENST00000441334Q5JT03
ENSG00000130714ENST00000448212Q5JT07

Expression (GTEx)

0
10
20
30
40
50
60
70
80
Adipose - Subcutaneous
Adipose - Visceral
Adrenal Gland
Artery - Aorta
Artery - Tibial
Bladder
Brain - Amygdala
Brain - Anterior cingulate cortex
Brain - Caudate
Brain - Cerebellar Hemisphere
Brain - Cerebellum
Brain - Cortex
Brain - Frontal Cortex
Brain - Hippocampus
Brain - Hypothalamus
Brain - Nucleus accumbens
Brain - Putamen
Brain - Spinal cord
Brain - Substantia nigra
Breast - Mammary Tissue
Cells - Cultured fibroblasts
Cells - EBV - transformed lymphocytes
Cervix - Ectocervix
Cervix - Endocervix
Colon - Sigmoid
Colon - Transverse
Esophagus - Gastroesophageal Junction
Esophagus - Mucosa
Esophagus - Muscularis
Fallopian Tube
Heart - Atrial Appendage
Heart - Left Ventricle
Kidney - Cortex
Kidney - Medulla
Liver
Lung
Minor Salivary Gland
Muscle - Skeletal
Nerve - Tibial
Ovary
Pancreas
Pituitary
Prostate
Skin - Not Sun Exposed
Skin - Sun Exposed
Small Intestine - Terminal Ileum
Spleen
Stomach
Testis
Thyroid
Uterus
Vagina
Whole Blood

Pathways

PathwaySourceExternal ID
Other types of O-glycan biosynthesisKEGGko00514
Other types of O-glycan biosynthesisKEGGhsa00514
Metabolic pathwaysKEGGhsa01100
Metabolism of proteinsREACTOMER-HSA-392499
Post-translational protein modificationREACTOMER-HSA-597592
O-linked glycosylationREACTOMER-HSA-5173105
Mannose type O-glycan biosynthesisKEGGko00515
Mannose type O-glycan biosynthesisKEGGhsa00515

References

Pubmed IDYearTitleCitations
338639072021Enhanced influenza A H1N1 T cell epitope recognition and cross-reactivity to protein-O-mannosyltransferase 1 in Pandemrix-associated narcolepsy type 1.14
345657392021POMT1 and POMT2 gene mutations result in 2 cases of alpha-dystroglycanopathy.0
338639072021Enhanced influenza A H1N1 T cell epitope recognition and cross-reactivity to protein-O-mannosyltransferase 1 in Pandemrix-associated narcolepsy type 1.14
345657392021POMT1 and POMT2 gene mutations result in 2 cases of alpha-dystroglycanopathy.0
294198662018[Analysis of POMT1 gene mutation in a pedigree affected with congenital muscular dystrophy].1
304546822018Molecular genetics of the POMT1-related muscular dystrophy-dystroglycanopathies.5
294198662018[Analysis of POMT1 gene mutation in a pedigree affected with congenital muscular dystrophy].1
304546822018Molecular genetics of the POMT1-related muscular dystrophy-dystroglycanopathies.5
281572572017Compound heterozygous POMT1 mutations in a Chinese family with autosomal recessive muscular dystrophy-dystroglycanopathy C1.13
285121292017Mammalian O-mannosylation of cadherins and plexins is independent of protein O-mannosyltransferases 1 and 2.23
281572572017Compound heterozygous POMT1 mutations in a Chinese family with autosomal recessive muscular dystrophy-dystroglycanopathy C1.13
285121292017Mammalian O-mannosylation of cadherins and plexins is independent of protein O-mannosyltransferases 1 and 2.23
262453042016Protein O-mannosylation is crucial for human mesencyhmal stem cells fate.6
271932242016Analysis of phenotype, enzyme activity and genotype of Chinese patients with POMT1 mutation.6
273584002016Functional Similarities between the Protein O-Mannosyltransferases Pmt4 from Bakers' Yeast and Human POMT1.7

Citation

Dessen P

POMT1 (protein O-mannosyltransferase 1)

Atlas Genet Cytogenet Oncol Haematol. 2009-08-01

Online version: http://atlasgeneticsoncology.org/gene/50992