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Aliases for POMT1 Gene

Aliases for POMT1 Gene

  • Protein-O-Mannosyltransferase 1 2 3
  • Dolichyl-Phosphate-Mannose--Protein Mannosyltransferase 1 3 4
  • EC 2.4.1.109 4 64
  • MDDGA1 3 6
  • MDDGB1 3 6
  • MDDGC1 3 6
  • Dolichyl-Phosphate-Mannose-Protein Mannosyltransferase 2
  • Protein O-Mannosyl-Transferase 1 3
  • EC 2.4.1 64
  • LGMD2K 3
  • RT 3

External Ids for POMT1 Gene

Summaries for POMT1 Gene

Entrez Gene Summary for POMT1 Gene

  • The protein encoded by this gene is an O-mannosyltransferase that requires interaction with the product of the POMT2 gene for enzymatic function. The encoded protein is found in the membrane of the endoplasmic reticulum. Defects in this gene are a cause of Walker-Warburg syndrome (WWS) and limb-girdle muscular dystrophy type 2K (LGMD2K). Several transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Oct 2008]

GeneCards Summary for POMT1 Gene

POMT1 (Protein-O-Mannosyltransferase 1) is a Protein Coding gene. Diseases associated with POMT1 include walker-warburg syndrome and pomt1-related muscle diseases. Among its related pathways are Other types of O-glycan biosynthesis. GO annotations related to this gene include mannosyltransferase activity and dolichyl-phosphate-mannose-protein mannosyltransferase activity. An important paralog of this gene is POMT2.

UniProtKB/Swiss-Prot for POMT1 Gene

  • Transfers mannosyl residues to the hydroxyl group of serine or threonine residues. Coexpression of both POMT1 and POMT2 is necessary for enzyme activity, expression of either POMT1 or POMT2 alone is insufficient.

Gene Wiki entry for POMT1 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for POMT1 Gene

Genomics for POMT1 Gene

Genomic Location for POMT1 Gene

Start:
131,502,895 bp from pter
End:
131,523,806 bp from pter
Size:
20,912 bases
Orientation:
Plus strand

Genomic View for POMT1 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for POMT1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for POMT1 Gene

Regulatory Elements for POMT1 Gene

Proteins for POMT1 Gene

  • Protein details for POMT1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9Y6A1-POMT1_HUMAN
    Recommended name:
    Protein O-mannosyl-transferase 1
    Protein Accession:
    Q9Y6A1
    Secondary Accessions:
    • B3KQG0
    • B4DIF0
    • Q5JT01
    • Q5JT06
    • Q5JT08
    • Q8NC91
    • Q8TCA9
    • Q9NX32
    • Q9NX82
    • Q9UNT2

    Protein attributes for POMT1 Gene

    Size:
    747 amino acids
    Molecular mass:
    84881 Da
    Quaternary structure:
    • Interacts with POMT2.
    SequenceCaution:
    • Sequence=BAA91135.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305}; Sequence=BAA91190.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305};

    Alternative splice isoforms for POMT1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for POMT1 Gene

Proteomics data for POMT1 Gene at MOPED

Selected DME Specific Peptides for POMT1 Gene

Post-translational modifications for POMT1 Gene

  • Modification sites at PhosphoSitePlus
  • Ubiquitination at Lys335, Lys379, Lys459, Lys497, and Lys737
  • Glycosylation at Asn435, Asn471, and Asn539

Domains for POMT1 Gene

Gene Families for POMT1 Gene

HGNC:
  • DOLPM :Dolichyl D-mannosyl phosphate dependent mannosyltransferases

Protein Domains for POMT1 Gene

UniProtKB/Swiss-Prot:

POMT1_HUMAN
Domain:
  • Contains 3 MIR domains.:
    • Q9Y6A1
Family:
  • Belongs to the glycosyltransferase 39 family.:
    • Q9Y6A1
genes like me logo Genes that share domains with POMT1: view

Function for POMT1 Gene

Molecular function for POMT1 Gene

GENATLAS Biochemistry: putative O-mannosyltransferase 1,Drosophila melanogaster rotated abdomen homolog protein,ubiquitously expressed with highest levels in testis and fetal brain with several alternatively spliced isoforms
UniProtKB/Swiss-Prot CatalyticActivity: Dolichyl D-mannosyl phosphate + protein = dolichyl phosphate + O-D-mannosylprotein.
UniProtKB/Swiss-Prot EnzymeRegulation: Slightly activated by Mg(2+) and inhibited by both Ca(+) and Mn(2+). EDTA ha no effect on activity in vitro.
UniProtKB/Swiss-Prot Function: Transfers mannosyl residues to the hydroxyl group of serine or threonine residues. Coexpression of both POMT1 and POMT2 is necessary for enzyme activity, expression of either POMT1 or POMT2 alone is insufficient.

Enzyme Numbers (IUBMB) for POMT1 Gene

Gene Ontology (GO) - Molecular Function for POMT1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000030 mannosyltransferase activity TAS 10366449
GO:0004169 dolichyl-phosphate-mannose-protein mannosyltransferase activity IEA --
GO:0046872 metal ion binding IEA --
genes like me logo Genes that share ontologies with POMT1: view
genes like me logo Genes that share phenotypes with POMT1: view

Animal Models for POMT1 Gene

MGI Knock Outs for POMT1:

No data available for miRNA , Transcription Factor Targeting and HOMER Transcription for POMT1 Gene

Localization for POMT1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for POMT1 Gene

Endoplasmic reticulum membrane; Multi-pass membrane protein.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for POMT1 Gene COMPARTMENTS Subcellular localization image for POMT1 gene
Compartment Confidence
endoplasmic reticulum 5
plasma membrane 3
extracellular 1

Gene Ontology (GO) - Cellular Components for POMT1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001669 acrosomal vesicle IEA --
GO:0005783 endoplasmic reticulum TAS 10366449
GO:0005789 endoplasmic reticulum membrane IDA 14699049
GO:0016020 membrane --
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with POMT1: view

Pathways for POMT1 Gene

genes like me logo Genes that share pathways with POMT1: view

Pathways by source for POMT1 Gene

1 KEGG pathway for POMT1 Gene

UniProtKB/Swiss-Prot Q9Y6A1-POMT1_HUMAN

  • Pathway: Protein modification; protein glycosylation

Gene Ontology (GO) - Biological Process for POMT1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005975 carbohydrate metabolic process TAS 10366449
GO:0006493 protein O-linked glycosylation TAS 10366449
GO:0007275 multicellular organismal development TAS 10366449
GO:0030198 extracellular matrix organization IEA --
GO:0035269 protein O-linked mannosylation IEA --
genes like me logo Genes that share ontologies with POMT1: view

Compounds for POMT1 Gene

(5) HMDB Compounds for POMT1 Gene

Compound Synonyms Cas Number PubMed IDs
Calcium
  • Ca
7440-70-2
Dolichol phosphate
  • dolichol-phosphate
34457-14-2
Dolichyl phosphate D-mannose
  • Dolichyl D-mannosyl phosphate
908211-94-9
Magnesium
  • Magnesium
7439-95-4
Manganese
  • manganese
7439-96-5

(1) Novoseek inferred chemical compound relationships for POMT1 Gene

Compound -log(P) Hits PubMed IDs
mannose 37 1
genes like me logo Genes that share compounds with POMT1: view

Transcripts for POMT1 Gene

Unigene Clusters for POMT1 Gene

Protein-O-mannosyltransferase 1:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for POMT1 Gene

ExUns: 1a · 1b · 1c · 1d · 1e · 1f · 1g ^ 2a · 2b ^ 3a · 3b ^ 4a · 4b ^ 5a · 5b ^ 6a · 6b · 6c ^ 7a · 7b · 7c · 7d ^ 8a · 8b ^ 9a · 9b ·
SP1: - - - - - - - -
SP2: - - - - - -
SP3: - - - - - - - - -
SP4: - - - -
SP5:
SP6: - - - - - - - -
SP7: - - - - - - - - - -
SP8:
SP9: - - - - - - - - - - - -
SP10:
SP11:
SP12: - - - - - - -
SP13: - - - - - -
SP14:
SP15: - - - -
SP16:
SP17:
SP18: - - - -
SP19: -
SP20:
SP21: - -
SP22:

ExUns: 9c ^ 10a · 10b · 10c · 10d · 10e ^ 11a · 11b ^ 12a · 12b · 12c ^ 13 ^ 14 ^ 15a · 15b · 15c · 15d ^ 16a · 16b ^ 17 ^ 18a · 18b ^ 19a · 19b · 19c ^ 20 ^
SP1: - - - - - - - - - -
SP2: - - - - - - - - - -
SP3: - - - - - - - - - -
SP4: - - - - - - - - - -
SP5: - - - - -
SP6: - -
SP7: - -
SP8:
SP9: - -
SP10: - - - -
SP11:
SP12:
SP13:
SP14: - -
SP15:
SP16:
SP17: -
SP18:
SP19:
SP20:
SP21:
SP22:

ExUns: 21 ^ 22a · 22b ^ 23
SP1:
SP2:
SP3:
SP4:
SP5:
SP6:
SP7:
SP8:
SP9:
SP10:
SP11:
SP12:
SP13:
SP14:
SP15:
SP16:
SP17:
SP18:
SP19:
SP20:
SP21:
SP22:

Relevant External Links for POMT1 Gene

GeneLoc Exon Structure for
POMT1
ECgene alternative splicing isoforms for
POMT1

Expression for POMT1 Gene

mRNA expression in normal human tissues for POMT1 Gene

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, MOPED, and MaxQB for POMT1 Gene

SOURCE GeneReport for Unigene cluster for POMT1 Gene Hs.522449

mRNA Expression by UniProt/SwissProt for POMT1 Gene

Q9Y6A1-POMT1_HUMAN
Tissue specificity: Widely expressed. Highly expressed in testis, heart and pancreas. Detected at lower levels in kidney, skeletal muscle, brain, placenta, lung and liver
genes like me logo Genes that share expressions with POMT1: view

Orthologs for POMT1 Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for POMT1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia POMT1 36
  • 99.54 (n)
  • 99.45 (a)
POMT1 37
  • 99 (a)
OneToOne
cow
(Bos Taurus)
Mammalia POMT1 36
  • 84.05 (n)
  • 87.17 (a)
POMT1 37
  • 87 (a)
OneToOne
dog
(Canis familiaris)
Mammalia POMT1 36
  • 87.36 (n)
  • 88.83 (a)
POMT1 37
  • 86 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Pomt1 36
  • 83.52 (n)
  • 86.05 (a)
Pomt1 16
Pomt1 37
  • 83 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia POMT1 37
  • 79 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia -- 37
  • 77 (a)
OneToMany
-- 37
  • 71 (a)
OneToMany
rat
(Rattus norvegicus)
Mammalia Pomt1 36
  • 83.31 (n)
  • 85.52 (a)
chicken
(Gallus gallus)
Aves POMT1 36
  • 73.94 (n)
  • 77.07 (a)
POMT1 37
  • 77 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia POMT1 37
  • 64 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia pomt1 36
  • 69.12 (n)
  • 70.6 (a)
Str.18829 36
zebrafish
(Danio rerio)
Actinopterygii pomt1 36
  • 66.06 (n)
  • 67.46 (a)
pomt1 37
  • 67 (a)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP010784 36
  • 53.91 (n)
  • 44.49 (a)
fruit fly
(Drosophila melanogaster)
Insecta rt 36
  • 52.76 (n)
  • 44.24 (a)
rt 37
  • 35 (a)
OneToOne
rt 38
  • 38 (a)
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_ABL085W 36
  • 45.06 (n)
  • 35.04 (a)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes PMT2 37
  • 28 (a)
ManyToMany
PMT3 37
  • 27 (a)
ManyToMany
PMT4 36
  • 43.06 (n)
  • 34.14 (a)
PMT6 37
  • 27 (a)
ManyToMany
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0B03762g 36
  • 44.79 (n)
  • 34.7 (a)
bread mold
(Neurospora crassa)
Ascomycetes NCU09332 36
  • 48.83 (n)
  • 37.07 (a)
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes ogm4 36
  • 43.46 (n)
  • 34.66 (a)
Species with no ortholog for POMT1:
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for POMT1 Gene

ENSEMBL:
Gene Tree for POMT1 (if available)
TreeFam:
Gene Tree for POMT1 (if available)

Paralogs for POMT1 Gene

Paralogs for POMT1 Gene

genes like me logo Genes that share paralogs with POMT1: view

Variants for POMT1 Gene

Sequence variations from dbSNP and Humsavar for POMT1 Gene

SNP ID Clin Chr 09 pos Sequence Context AA Info Type MAF
rs749590 -- 131,519,223(+) TGACC(A/G)GGCAG intron-variant
rs749591 -- 131,519,225(+) ACCGG(A/G)CAGTC intron-variant
rs946712 -- 131,513,683(+) GTGGT(A/C)AAGCT intron-variant
rs946713 -- 131,514,483(+) GTCCC(C/T)CACCA intron-variant
rs1547768 -- 131,518,776(+) AACCC(A/G)AGTGG intron-variant

Structural Variations from Database of Genomic Variants (DGV) for POMT1 Gene

Variant ID Type Subtype PubMed ID
nsv831740 CNV Loss 17160897
essv2695 CNV CNV 17122850
dgv2424e1 CNV Complex 17122850
nsv818728 CNV Gain 17921354
esv34928 CNV Gain 17911159
nsv831741 CNV Loss 17160897
nsv517936 CNV Loss 19592680
nsv893990 CNV Loss 21882294
nsv893991 CNV Loss 21882294
nsv831742 CNV Loss 17160897
nsv438114 CNV Loss 16468122
nsv466603 CNV Loss 19166990
esv2739118 CNV Deletion 23290073
dgv8313n71 CNV Loss 21882294
esv2739119 CNV Deletion 23290073
esv21820 CNV Loss 19812545
esv2739120 CNV Deletion 23290073
esv1751376 CNV Insertion 17803354
esv2739121 CNV Deletion 23290073
esv1270653 CNV Insertion 17803354
dgv8314n71 CNV Loss 21882294

Relevant External Links for POMT1 Gene

HapMap Linkage Disequilibrium report
POMT1
Human Gene Mutation Database (HGMD)
POMT1
Locus Specific Mutation Databases (LSDB)
POMT1

Disorders for POMT1 Gene

(3) OMIM Diseases for POMT1 Gene (607423)

UniProtKB/Swiss-Prot

POMT1_HUMAN
  • Muscular dystrophy-dystroglycanopathy congenital with mental retardation B1 (MDDGB1) [MIM:613155]: An autosomal recessive disorder characterized by congenital muscular dystrophy associated with mental retardation and mild structural brain abnormalities. {ECO:0000269 PubMed:16575835, ECO:0000269 PubMed:16717220, ECO:0000269 PubMed:19299310}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Muscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies A1 (MDDGA1) [MIM:236670]: An autosomal recessive disorder characterized by congenital muscular dystrophy associated with cobblestone lissencephaly and other brain anomalies, eye malformations, profound mental retardation, and death usually in the first years of life. Included diseases are the more severe Walker-Warburg syndrome and the slightly less severe muscle-eye-brain disease. {ECO:0000269 PubMed:12369018, ECO:0000269 PubMed:15037715, ECO:0000269 PubMed:15637732, ECO:0000269 PubMed:16575835}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Muscular dystrophy-dystroglycanopathy limb-girdle C1 (MDDGC1) [MIM:609308]: An autosomal recessive degenerative myopathy associated with mild mental retardation without any obvious structural brain abnormality. An abnormal alpha-dystroglycan pattern in observed in the muscle. {ECO:0000269 PubMed:15792865}. Note=The disease is caused by mutations affecting the gene represented in this entry.

(4) University of Copenhagen DISEASES for POMT1 Gene

(10) Novoseek inferred disease relationships for POMT1 Gene

Disease -log(P) Hits PubMed IDs
walker-warburg syndrome 98.3 20
muscle-eye-brain disease 92.9 3
eye abnormalities 92.8 4
muscular dystrophies 92.6 12
mdc1c 90.6 1

Relevant External Links for POMT1

Genetic Association Database (GAD)
POMT1
Human Genome Epidemiology (HuGE) Navigator
POMT1
genes like me logo Genes that share disorders with POMT1: view

Publications for POMT1 Gene

  1. Identification of a human homolog of the Drosophila rotated abdomen gene (POMT1) encoding a putative protein O-mannosyl-transferase, and assignment to human chromosome 9q34.1. (PMID: 10366449) Perez Jurado L.A. … Cruces J. (Genomics 1999) 2 3 4 23
  2. Congenital muscular dystrophies with defective glycosylation of dystroglycan: a population study. (PMID: 19299310) Mercuri E. … Bertini E. (Neurology 2009) 3 4 23 49
  3. Refining genotype phenotype correlations in muscular dystrophies with defective glycosylation of dystroglycan. (PMID: 17878207) Godfrey C. … Muntoni F. (Brain 2007) 3 23 49
  4. POMT1 mutation results in defective glycosylation and loss of laminin-binding activity in alpha-DG. (PMID: 15037715) Kim D.-S. … Nishino I. (Neurology 2004) 3 4 23
  5. Mutations in the O-mannosyltransferase gene POMT1 give rise to the severe neuronal migration disorder Walker-Warburg syndrome. (PMID: 12369018) Beltran-Valero de Bernabe D. … Brunner H.G. (Am. J. Hum. Genet. 2002) 3 4 23

Products for POMT1 Gene

Sources for POMT1 Gene

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