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 71 - 80 of 148 in total
DO ID Disease Name Source
DOID:0110636 congenital merosin-deficient muscular dystrophy 1A
DOID:0110637 muscular dystrophy-dystroglycanopathy type B6
DOID:0110639 congenital muscular dystrophy due to integrin alpha-7 deficiency
DOID:0110640 congenital muscular dystrophy due to LMNA mutation
DOID:0110881 holoprosencephaly 1
DOID:0111237 congenital muscular dystrophy-dystroglycanopathy type A1
DOID:0111338 isolated elevated serum creatine phosphokinase levels
DOID:0111531 bilateral optic nerve hypoplasia
DOID:0112374 muscular dystrophy-dystroglycanopathy
DOID:10003 sensorineural hearing loss
The Human Phenotype Ontology
Displaying entries 101 - 110 of 192 in total
HPO ID HPO Term
HP:0002334 Abnormal cerebellar vermis morphology
HP:0002350 Cerebellar cyst
HP:0002353 EEG abnormality
HP:0002355 Difficulty walking
HP:0002359 Frequent falls
HP:0002363 Abnormal brainstem morphology
HP:0002365 Hypoplasia of the brainstem
HP:0002435 Meningocele
HP:0002438 Cerebellar malformation
HP:0002465 Poor speech
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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