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Symbol report for POMT1

Stable symbol

HGNC data for POMT1

Approved symbol
POMT1
Approved name

protein O-mannosyltransferase 1

Locus type
gene with protein product
HGNC ID
HGNC:9202
Symbol status
Approved
Alias symbols
LGMD2K
Alias names
dolichyl-phosphate-mannose-protein mannosyltransferase
Chromosomal location
9q34.13
Gene groups
Gene resources for POMT1
Ensembl
ENSG00000130714 Curated
Ensembl region in detailEnsembl gene sequence
NCBI Gene
10585 Curated
UCSC
uc004cax.3
Alliance of Genome Resources
HGNC:9202
Nucleotide resources for POMT1
MANE Select
NM_001077365.2
ENST00000402686.8
INSDC
AF095136 Curated
ENAGenBankDDBJ
RefSeq
NM_007171 Curated
NCBI sequence viewer
Protein resources for POMT1
UniProt/Swiss-Prot
Q9Y6A1
InterProPDBeReactome
AlphaFold
AF-Q9Y6A1-F1
Enzyme Commission
2.4.1.109 Curated
ExpasyBRENDAKEGGIntEnzIUBMB Enzyme Nomenclature
Orthologs from selected species for POMT1
Bos taurus
POMT1 VGNC:33158 VGNC
Canis familiaris
POMT1 VGNC:44810 VGNC
Equus caballus
POMT1 VGNC:21692 VGNC
Felis catus
POMT1 VGNC:102968 VGNC
Macaca mulatta
POMT1 VGNC:109508 VGNC
Mus musculus
Pomt1 MGI:2138994 Curated
Pan troglodytes
POMT1 VGNC:4826 VGNC
Rattus norvegicus
Pomt1 RGD:620078
Sus scrofa
POMT1 VGNC:103155 VGNC
Clinical resources for POMT1
OMIM
607423
LRG
LRG_842 Curated
LSDB
Leiden Muscular Dystrophy Pages Curated
Leiden Muscular Dystrophy pages Curated
GenCC
HGNC:9202
MedlinePlus
Search via POMT1
DECIPHER
Search via POMT1
ClinGen
Search via HGNC:9202
Genetic Testing Registry
Search via NCBI Gene ID 10585
ClinVar
Search via NCBI Gene ID 10585
dbVar
Search via NCBI Gene ID 10585
Orphanet
117939
Other resources for POMT1
AmiGO
Search via Q9Y6A1
QuickGO
Search via Q9Y6A1
BioGPS
Search via NCBI Gene ID 10585
GeneCards
Search via HGNC:9202
Monarch
Search via HGNC:9202
WikiGenes
Search via NCBI Gene ID 10585
References for POMT1