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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
  • Protein-O-Mannosyltransferase 1 3 5
  • EC 2.4.1.109 4 63
  • Dolichyl-Phosphate-Mannose-Protein Mannosyltransferase 2
  • Testis Tissue Sperm-Binding Protein Li 57p 3
  • EC 2.4.1 63
  • LGMD2K 3
  • MDDGA1 3
  • MDDGB1 3
  • MDDGC1 3
  • RT 3

External Ids for POMT1 Gene

Previous GeneCards Identifiers for POMT1 Gene

  • GC09P125393
  • GC09P125924
  • GC09P127731
  • GC09P129655
  • GC09P129656
  • GC09P131409
  • GC09P133369
  • GC09P134378
  • GC09P103872

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 muscular dystrophy-dystroglycanopathy , type c, 1 and muscular dystrophy-dystroglycanopathy , type a, 1. Among its related pathways are O-linked glycosylation and Transport to the Golgi and subsequent modification. 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

Regulatory Elements for POMT1 Gene

Promoters for POMT1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around POMT1 on UCSC Golden Path with GeneCards custom track

Genomic Location for POMT1 Gene

Chromosome:
9
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

Genes around POMT1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
POMT1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for POMT1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence 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

  • Ubiquitination at Lys 335, Lys 379, Lys 459, Lys 497, and Lys 737
  • Glycosylation at Asn 435, Asn 471, and Asn 539
  • Modification sites at PhosphoSitePlus

Antibody Products

Domains & Families for POMT1 Gene

Protein Domains for POMT1 Gene

Graphical View of Domain Structure for InterPro Entry

Q9Y6A1

UniProtKB/Swiss-Prot:

POMT1_HUMAN :
  • Contains 3 MIR domains.
  • Belongs to the glycosyltransferase 39 family.
Domain:
  • Contains 3 MIR domains.
Family:
  • Belongs to the glycosyltransferase 39 family.
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

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

Human Phenotype Ontology for POMT1 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for POMT1 Gene

MGI Knock Outs for POMT1:

Animal Model Products

Inhibitory RNA Products

In Situ Assay Products

Flow Cytometry Products

No data available for Gene Ontology (GO) - Molecular Function , miRNA , Transcription Factor Targets 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:0016021 integral component of membrane IEA --
GO:0016529 sarcoplasmic reticulum IEA --
genes like me logo Genes that share ontologies with POMT1: view

Pathways & Interactions for POMT1 Gene

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

Pathways by source 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:0000032 cell wall mannoprotein biosynthetic process IBA --
GO:0035269 protein O-linked mannosylation IEA --
GO:1900101 regulation of endoplasmic reticulum unfolded protein response IBA --
genes like me logo Genes that share ontologies with POMT1: view

No data available for SIGNOR curated interactions for POMT1 Gene

Drugs & Compounds for POMT1 Gene

(4) Drugs for POMT1 Gene - From: HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
dolichol phosphate Pharma Competitive, Inhibitor 0
Manganese Pharma 32
calcium Nutra 0
Magnesium Nutra 0

(3) Additional Compounds for POMT1 Gene - From: HMDB and Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
Dolichol-20
  • Dolichol
  • Dolichol (C100)
  • Dolichol 20
  • Dolichol phosphate
  • Dolichyl phosphate
2067-66-5
Dolichyl phosphate D-mannose
  • Dolichol phosphate mannose
  • Dolichyl D-mannosyl phosphate
  • Dolichyl phosphate D-mannose
  • DPM
908211-94-9
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

Protein differential expression in normal tissues from HIPED for POMT1 Gene

This gene is overexpressed in Adrenal (25.4), Retina (18.6), Peripheral blood mononuclear cells (10.5), and Islet of Langerhans (8.6).

Integrated Proteomics: protein expression in normal tissues and cell lines 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 expression patterns with POMT1: view

Protein tissue co-expression partners for POMT1 Gene

Primer Products

In Situ Assay Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery and mRNA differential expression in normal tissues for POMT1 Gene

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
cow
(Bos Taurus)
Mammalia POMT1 35
  • 84.05 (n)
  • 87.17 (a)
POMT1 36
  • 87 (a)
OneToOne
dog
(Canis familiaris)
Mammalia POMT1 35
  • 87.36 (n)
  • 88.83 (a)
POMT1 36
  • 86 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Pomt1 35
  • 83.52 (n)
  • 86.05 (a)
Pomt1 16
Pomt1 36
  • 83 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia POMT1 35
  • 99.54 (n)
  • 99.45 (a)
POMT1 36
  • 99 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Pomt1 35
  • 83.31 (n)
  • 85.52 (a)
oppossum
(Monodelphis domestica)
Mammalia POMT1 36
  • 79 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia -- 36
  • 77 (a)
OneToMany
-- 36
  • 71 (a)
OneToMany
chicken
(Gallus gallus)
Aves POMT1 35
  • 73.94 (n)
  • 77.07 (a)
POMT1 36
  • 77 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia POMT1 36
  • 64 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia pomt1 35
  • 69.12 (n)
  • 70.6 (a)
Str.18829 35
zebrafish
(Danio rerio)
Actinopterygii pomt1 35
  • 66.06 (n)
  • 67.46 (a)
pomt1 36
  • 67 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta rt 37
  • 38 (a)
rt 35
  • 52.76 (n)
  • 44.24 (a)
rt 36
  • 35 (a)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP010784 35
  • 53.91 (n)
  • 44.49 (a)
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_ABL085W 35
  • 45.06 (n)
  • 35.04 (a)
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0B03762g 35
  • 44.79 (n)
  • 34.7 (a)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes PMT4 35
  • 43.06 (n)
  • 34.14 (a)
PMT2 36
  • 28 (a)
ManyToMany
PMT3 36
  • 27 (a)
ManyToMany
PMT6 36
  • 27 (a)
ManyToMany
bread mold
(Neurospora crassa)
Ascomycetes NCU09332 35
  • 48.83 (n)
  • 37.07 (a)
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes ogm4 35
  • 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
rs28941782 Muscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies A1 (MDDGA1) 131,506,217(+) CCTTG(A/G)GAGGT intron-variant, nc-transcript-variant, reference, missense, utr-variant-5-prime
VAR_015735 Muscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies A1 (MDDGA1)
VAR_022661 Muscular dystrophy-dystroglycanopathy limb-girdle C1 (MDDGC1)
VAR_026697 Muscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies A1 (MDDGA1), Muscular dystrophy-dystroglycanopathy congenital with mental retardation B1 (MDDGB1)
rs3887873 - 131,510,048(+) AGATG(C/T)GGATG intron-variant, nc-transcript-variant, reference, missense, stop-gained, utr-variant-5-prime

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

Variation tolerance for POMT1 Gene

Residual Variation Intolerance Score: 23.4% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 6.57; 77.99% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for POMT1 Gene

HapMap Linkage Disequilibrium report
POMT1
Human Gene Mutation Database (HGMD)
POMT1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for POMT1 Gene

Disorders for POMT1 Gene

MalaCards: The human disease database

(15) MalaCards diseases for POMT1 Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
muscular dystrophy-dystroglycanopathy , type c, 1
  • limb-girdle muscular dystrophy type 2k
muscular dystrophy-dystroglycanopathy , type a, 1
  • walker-warburg syndrome
muscular dystrophy-dystroglycanopathy , type b, 1
  • muscular dystrophy-dystroglycanopathy congenital with mental retardation b1
walker-warburg syndrome
  • cerebroocular dysplasia-muscular dystrophy syndrome
intellectual disability-developmental delay-contractures syndrome
  • wieacker-wolff syndrome
- elite association - COSMIC cancer census association via MalaCards
Search POMT1 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

POMT1_HUMAN
  • 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 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 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.

Relevant External Links for POMT1

Genetic Association Database (GAD)
POMT1
Human Genome Epidemiology (HuGE) Navigator
POMT1
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
POMT1
genes like me logo Genes that share disorders with POMT1: view

No data available for Genatlas for POMT1 Gene

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 67
  2. Role of N-glycans in maintaining the activity of protein O-mannosyltransferases POMT1 and POMT2. (PMID: 19880378) Manya H. … Endo T. (J. Biochem. 2010) 3 23
  3. Congenital muscular dystrophies with defective glycosylation of dystroglycan: a population study. (PMID: 19299310) Mercuri E. … Bertini E. (Neurology 2009) 3 23
  4. Protein O-mannosyltransferase activities in lymphoblasts from patients with alpha-dystroglycanopathies. (PMID: 17869517) Manya H. … Guicheney P. (Neuromuscul. Disord. 2008) 3 23
  5. POMT1 and POMT2 mutations in CMD patients: a multicentric Italian study. (PMID: 18513969) Messina S. … Mercuri E. (Neuromuscul. Disord. 2008) 3 23

Products for POMT1 Gene

Sources for POMT1 Gene

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