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 91 - 100 of 148 in total
DO ID Disease Name Source
DOID:11212 hydrophthalmos
DOID:11720 distal myopathy
DOID:11723 Duchenne muscular dystrophy
DOID:11724 limb-girdle muscular dystrophy
DOID:11727 facioscapulohumeral muscular dystrophy
DOID:11830 myopia
DOID:11832 visual epilepsy
DOID:11836 clubfoot
DOID:11984 hypertrophic cardiomyopathy
DOID:12161 peripheral retinal degeneration
The Human Phenotype Ontology
Displaying entries 71 - 80 of 192 in total
HPO ID HPO Term
HP:0001331 Absent septum pellucidum
HP:0001339 Lissencephaly
HP:0001344 Absent speech
HP:0001347 Hyperreflexia
HP:0001349 Facial diplegia
HP:0001360 Holoprosencephaly
HP:0001371 Flexion contracture
HP:0001387 Joint stiffness
HP:0001460 Aplasia/Hypoplasia involving the skeletal musculature
HP:0001608 Abnormality of the voice
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

About Release Notes Help Feedback

Click here to visit the beta site.


International Collaboration

GlyCosmos is a member of the GlySpace Alliance together with GlyGen and Glycomics@ExPASy.

Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

Partly supported by NIH Common Fund Grant #1U01GM125267-01


Logo License Policies Site Map

Contact: support@glycosmos.org

This work is licensed under Creative Commons Attribution 4.0 International


GlyCosmos Portal v4.0.0

Last updated: August 19, 2024