protein O-mannosyltransferase 1

Summary
Gene Symbol
  • POMT1
Aliases
  • LGMD2K
  • dolichyl-phosphate-mannose-protein mannosyltransferase
Organism
Homo sapiens (human)
External Links
NCBI Gene
10585
GGDB ID
HGNC
9202
mRNA
map
  • 9q34.1
Protein
OMIM
KEGG Gene ID
hsa:10585
PubChem
10585
Alliance of Genome Resources
Annotation
Keyword
  • Alternative splicing
  • Congenital muscular dystrophy
  • Disease variant
  • Dystroglycanopathy
  • Endoplasmic reticulum
  • Glycoprotein
  • Glycosyltransferase
  • Limb-girdle muscular dystrophy
  • Lissencephaly
  • Metal-binding
  • Reference proteome
  • Repeat
  • Transmembrane helix
Proteins
Displaying all 2 entries
UniProt Protein Name
Q9Y6A1
  • Dolichyl-phosphate-mannose--protein mannosyltransferase 1
A0A140VKE0
Gene Ontology (GO)
GO Hierarchy
GlycoGene Database (GGDB)
KEGG BRITE Database
Orthology
K00728
Name
dolichyl-phosphate-mannose-protein mannosyltransferase [EC:2.4.1.109]
References
Reactions
Displaying 1 entry
KEGG Reaction Enzyme Acceptor Product
R07620
Disease
Disease Ontology
Displaying entries 41 - 50 of 148 in total
DO ID Disease Name Source
DOID:0110280 autosomal recessive limb-girdle muscular dystrophy type 2F
DOID:0110281 autosomal recessive limb-girdle muscular dystrophy type 2G
DOID:0110282 autosomal recessive limb-girdle muscular dystrophy type 2H
DOID:0110283 autosomal recessive limb-girdle muscular dystrophy type 2J
DOID:0110284 autosomal recessive limb-girdle muscular dystrophy type 2L
DOID:0110285 autosomal recessive limb-girdle muscular dystrophy type 2Q
DOID:0110286 obsolete autosomal recessive limb-girdle muscular dystrophy type 2R
DOID:0110287 autosomal recessive limb-girdle muscular dystrophy type 2S
DOID:0110289 autosomal recessive limb-girdle muscular dystrophy type 2Y
DOID:0110292 autosomal recessive limb-girdle muscular dystrophy type 2O
The Human Phenotype Ontology
Displaying entries 171 - 180 of 192 in total
HPO ID HPO Term
HP:0008180 Mildly elevated creatine kinase
HP:0008443 Neuropathic spinal arthropathy
HP:0008551 Microtia
HP:0008736 Hypoplasia of penis
HP:0008872 Feeding difficulties in infancy
HP:0008947 Infantile muscular hypotonia
HP:0008981 Calf muscle hypertrophy
HP:0010508 Metatarsus valgus
HP:0010628 Facial palsy
HP:0010794 Impaired visuospatial constructive cognition
Displaying all 9 entries
Disease ID Disease Name
ORPHA:370980
  • muscular dystrophy-dystroglycanopathy type B5
  • obsolete congenital muscular dystrophy without intellectual disability
ORPHA:899
  • muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4
  • muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7
  • muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1
  • muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A13
  • muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2
  • muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3
  • muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A5
  • muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A6
  • muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A9
  • muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 10
  • muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11
  • muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 12
  • muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 8
  • muscular dystrophy-dystroglycanopathy, type A
ORPHA:370968
  • congenital muscular dystrophy with intellectual disability
  • muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1
  • muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B14
  • muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B2
  • muscular dystrophy-dystroglycanopathy type B5
  • muscular dystrophy-dystroglycanopathy type B6
OMIM:236670
  • muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1
ORPHA:86812
  • autosomal recessive limb-girdle muscular dystrophy type 2K
OMIM:613155
  • muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1
ORPHA:370959
  • muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1
  • muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B14
  • muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B2
  • muscular dystrophy-dystroglycanopathy type B5
  • obsolete congenital muscular dystrophy with cerebellar involvement
OMIM:609308
  • autosomal recessive limb-girdle muscular dystrophy type 2K
ORPHA:588
  • muscle-eye-brain disease
  • muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1

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