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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

gg138

HGNC

9202

mRNA

NM_007171

map

9q34.1

Protein

NP_009102

OMIM

607423

KEGG Gene ID

hsa:10585

PubChem

10585

Alliance of Genome Resources

HGNC:9202

JoGo

POMT1

TogoVar

POMT1

Annotation

Keyword

Alternative splicing
Congenital muscular dystrophy
Disease variant
Dystroglycanopathy
Endoplasmic reticulum
Glycoprotein
Glycosyltransferase
Limb-girdle muscular dystrophy
Lissencephaly
Metal-binding
Proteomics identification
Reference proteome
Repeat
Transmembrane helix

Proteins

Displaying **all 6** entries
UniProt	Protein Name
B4DTW4
Q9Y6A1	Dolichyl-phosphate-mannose--protein mannosyltransferase 1
Q5JT02
A0A140VKE0
A0A7I2V2K0
A0A7I2V445

Annotation information from UniProt.

Gene Ontology (GO)

Displaying entries **1 - 5** of 6 in total

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GO Term	Evidence Code	PMID
protein O-linked glycosylation	TAS
protein O-linked glycosylation	IEA
extracellular matrix organization
protein O-linked glycosylation via mannose	IDA
protein O-linked glycosylation via mannose	IMP

GO Hierarchy

biological process

cellular process [inference]

metabolic process [inference]

biosynthetic process [inference]

macromolecule biosynthetic process [inference]

glycoprotein biosynthetic process [inference]

protein O-linked glycosylation

protein O-linked glycosylation via mannose

carbohydrate derivative biosynthetic process [inference]

glycoprotein biosynthetic process [inference]

protein O-linked glycosylation

protein O-linked glycosylation via mannose

macromolecule metabolic process [inference]

macromolecule biosynthetic process [inference]

glycoprotein biosynthetic process [inference]

protein O-linked glycosylation

protein O-linked glycosylation via mannose

protein metabolic process [inference]

glycoprotein metabolic process [inference]

glycoprotein biosynthetic process [inference]

protein O-linked glycosylation

protein O-linked glycosylation via mannose

primary metabolic process [inference]

protein metabolic process [inference]

glycoprotein metabolic process [inference]

glycoprotein biosynthetic process [inference]

protein O-linked glycosylation

protein O-linked glycosylation via mannose

carbohydrate derivative metabolic process [inference]

glycoprotein metabolic process [inference]

glycoprotein biosynthetic process [inference]

protein O-linked glycosylation

protein O-linked glycosylation via mannose

carbohydrate derivative biosynthetic process [inference]

glycoprotein biosynthetic process [inference]

protein O-linked glycosylation

protein O-linked glycosylation via mannose

cellular component organization or biogenesis [inference]

cellular component organization [inference]

extracellular structure organization [inference]

extracellular matrix organization

external encapsulating structure organization [inference]

extracellular matrix organization

Displaying entries **1 - 5** of 11 in total

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GO Term	Evidence Code	PMID
acrosomal vesicle	IEA
endoplasmic reticulum	TAS
endoplasmic reticulum	IBA
endoplasmic reticulum membrane	TAS
endoplasmic reticulum membrane	IDA

GO Hierarchy

cellular component

protein-containing complex [inference]

membrane protein complex [inference]

dolichyl-phosphate-mannose-protein mannosyltransferase complex

endoplasmic reticulum protein-containing complex [inference]

dolichyl-phosphate-mannose-protein mannosyltransferase complex

intracellular protein-containing complex [inference]

mannosyltransferase complex [inference]

dolichyl-phosphate-mannose-protein mannosyltransferase complex

catalytic complex [inference]

transferase complex [inference]

mannosyltransferase complex [inference]

dolichyl-phosphate-mannose-protein mannosyltransferase complex

cellular anatomical structure [inference]

membrane

organelle membrane [inference]

endoplasmic reticulum membrane

organelle [inference]

membrane-bounded organelle [inference]

vesicle [inference]

intracellular vesicle [inference]

cytoplasmic vesicle [inference]

secretory vesicle [inference]

secretory granule [inference]

acrosomal vesicle

intracellular membrane-bounded organelle [inference]

endoplasmic reticulum

sarcoplasmic reticulum

intracellular vesicle [inference]

cytoplasmic vesicle [inference]

secretory vesicle [inference]

secretory granule [inference]

acrosomal vesicle

intracellular organelle [inference]

intracellular membrane-bounded organelle [inference]

endoplasmic reticulum

sarcoplasmic reticulum

intracellular vesicle [inference]

cytoplasmic vesicle [inference]

secretory vesicle [inference]

secretory granule [inference]

acrosomal vesicle

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GO Term	Evidence Code	PMID
mannosyltransferase activity	TAS
mannosyltransferase activity	IMP
mannosyltransferase activity	IEA
dolichyl-phosphate-mannose-protein mannosyltransferase activity	TAS
dolichyl-phosphate-mannose-protein mannosyltransferase activity	IBA

GO Hierarchy

molecular function

catalytic activity [inference]

transferase activity [inference]

glycosyltransferase activity [inference]

hexosyltransferase activity [inference]

mannosyltransferase activity

dolichyl-phosphate-mannose-protein mannosyltransferase activity

catalytic activity, acting on a protein [inference]

dolichyl-phosphate-mannose-protein mannosyltransferase activity

binding [inference]

protein binding

small molecule binding [inference]

ion binding [inference]

cation binding [inference]

metal ion binding

Gene Ontology information from NCBI Gene and UniProt.

OrthoDB (Group)

Group level

Eukaryota

Group Name

mannosyltransferase

Functional Category

H: Coenzyme transport and metabolism
M: Cell wall/membrane/envelope biogenesis
O: Posttranslational modification, protein turnover, chaperones

Displaying **all 5** entries
Gene Ontology
dolichyl-phosphate-mannose-protein mannosyltransferase activity
mannosyltransferase activity
protein O-linked glycosylation
protein O-linked mannosylation
transferase activity

Displaying **all 5** entries
InterPro
Glycosyl transferase family 39/83
Glycosyltransferase 39-like
MIR motif
Mir domain superfamily
Protein O-mannosyl-transferase, C-terminal four TM domain

GlycoGene Database (GGDB)

GGDB ID

gg138

Gene Symbol

POMT1

Orthologous Gene

Displaying **all 4** entries
Species	Protein	mRNA
Mus musculus	NP_660127	NM_145145
Saccharomyces cerevisiae	NP_010188	NC_001136.6
Drosophila melanogaster	NP_524025	NM_079301
Rattus norvegicus	NP_445858	NM_053406

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	2.4.1.109	G74840NI	G61491DK

Disease

Disease Ontology

Displaying **all 8** entries
DO ID	Disease Name	Source
DOID:0050453	lissencephaly	Alliance of Genome Resources
DOID:0110297	autosomal recessive limb-girdle muscular dystrophy type 2K	Alliance of Genome Resources
DOID:9884	muscular dystrophy	Alliance of Genome Resources
DOID:9296	cleft lip	Alliance of Genome Resources
DOID:0050588	muscular dystrophy-dystroglycanopathy type B1	Alliance of Genome Resources
DOID:0050560	Walker-Warburg syndrome	Alliance of Genome Resources
DOID:0111237	congenital muscular dystrophy-dystroglycanopathy type A1	Alliance of Genome Resources
DOID:0050700	cardiomyopathy	Alliance of Genome Resources

The Human Phenotype Ontology

Displaying entries **1 - 10** of **192** in total

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HPO ID	HPO Term
HP:0000007	Autosomal recessive inheritance
HP:0000028	Cryptorchidism
HP:0000050	Hypoplastic male external genitalia
HP:0000054	Micropenis
HP:0000110	Renal dysplasia
HP:0000158	Macroglossia
HP:0000175	Cleft palate
HP:0000176	Submucous cleft hard palate
HP:0000193	Bifid uvula
HP:0000204	Cleft upper lip

Displaying **all 9** entries
Disease ID	Disease Name
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:609308	autosomal recessive limb-girdle muscular dystrophy type 2K
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:86812	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
ORPHA:370980	muscular dystrophy-dystroglycanopathy type B5 obsolete congenital muscular dystrophy without intellectual disability
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:613155	muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1
OMIM:236670	muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1

PubChem Disease

GHR Health Conditions

MedGen Diseases

OMIM Phenotypes

KEGG Diseases

Gene-Disease-Co-Occurrences-in-Literature (PubChem)

Ortholog

Displaying **all 7** entries
Species	Gene ID	Alliance of Genome Resources
Mus musculus	99011	MGI:2138994
Rattus norvegicus	84430	RGD:620078
Drosophila melanogaster	39297	FB:FBgn0003292
Saccharomyces cerevisiae S288C	853608	SGD:S000003904
Danio rerio	569769	ZFIN:ZDB-GENE-060929-966
Xenopus laevis	108699937	Xenbase:XB-GENE-6488680
Xenopus tropicalis	448433	Xenbase:XB-GENE-944435

GlyTouCan

GlyComb

GlycoPOST

UniCarb-DR

LM-GlycoRepo

All Resources

Other Information

Tools

Search Tools

Guidelines

Summary

External Links

Annotation

OrthoDB (Group)

GlycoGene Database (GGDB)

KEGG BRITE Database

PubChem Disease

International Collaboration

Acknowledgements