Free for academic non-profit institutions. Other users need a Commercial license

Aliases for POMT1 Gene

Aliases for POMT1 Gene

  • Protein O-Mannosyltransferase 1 2 3 5
  • Dolichyl-Phosphate-Mannose--Protein Mannosyltransferase 1 3 4
  • EC 2.4.1.109 4 61
  • Dolichyl-Phosphate-Mannose-Protein Mannosyltransferase 2
  • Truncated O-Mannosyl-Transferase 1 Variant SV3DEL 3
  • Testis Tissue Sperm-Binding Protein Li 57p 3
  • Protein O-Mannosyl-Transferase 1 3
  • EC 2.4.1 61
  • 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 Mannose type O-glycan biosynthesis and O-linked glycosylation. 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 CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for POMT1 Gene

Genomics for POMT1 Gene

Regulatory Elements for POMT1 Gene

Enhancers for POMT1 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH09G131401 1.6 Ensembl ENCODE dbSUPER 28.6 -96.8 -96818 9.0 PKNOX1 FOXA2 MLX ARID4B SIN3A FEZF1 DMAP1 YBX1 ZNF2 YY1 POMT1 FAM78A ENSG00000176868 SNORD62A SNORD62B LOC105376301 PRRC2B UCK1 GC09M131403 PIR32430
GH09G131723 2 FANTOM5 Ensembl ENCODE dbSUPER 15.4 +229.4 229419 17.9 HDGF PKNOX1 FOXA2 ARNT ZFP64 WRNIP1 ARID4B SIN3A DMAP1 YY1 RAPGEF1 POMT1 ENSG00000176868 TTF1 GTF3C4 CFAP77 FAM78A PRRC2B NTNG2 RN7SL328P
GH09G131420 1.4 Ensembl ENCODE dbSUPER 18.3 -80.7 -80653 4.3 PKNOX1 FOXA2 ARID4B SIN3A RAD21 ZNF366 SCRT2 FOS USF2 CEBPB POMT1 PRRC2B UCK1 PIR53214 GC09M131403 PIR32430
GH09G131620 1.5 Ensembl ENCODE dbSUPER 17 +123.4 123440 11.7 HDGF PKNOX1 CREB3L1 WRNIP1 SIN3A YY1 TCF12 ZNF121 GLIS2 ZNF143 RAPGEF1 POMT1 ENSG00000176868 PIR59020 PIR57943
GH09G131431 0.9 ENCODE dbSUPER 27.5 -69.6 -69623 2.6 SP5 HLF CEBPB RAD21 ZIC2 JUND SMARCA4 GLIS1 HNF4G TCF7 POMT1 PRRC2B SNORD62A SNORD62B ENSG00000176868 UCK1 PIR53214 PIR58994
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around POMT1 on UCSC Golden Path with GeneCards custom track

Promoters for POMT1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000242346 205 1401 HDGF HNRNPUL1 PKNOX1 MLX AGO1 ZFP64 ARID4B SIN3A DMAP1 YBX1

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

Selected DME Specific Peptides for POMT1 Gene

Q9Y6A1:
  • HDVAAPLS
  • RGSSHQQQVTCY
  • QEVSCYIDY

Post-translational modifications for POMT1 Gene

  • Ubiquitination at Lys335, posLast=379379, posLast=459459, posLast=497497, and Lys737
  • Glycosylation at posLast=435435, Asn471, and posLast=539539
  • Modification sites at PhosphoSitePlus

Domains & Families for POMT1 Gene

Graphical View of Domain Structure for InterPro Entry

Q9Y6A1

UniProtKB/Swiss-Prot:

POMT1_HUMAN :
  • Belongs to the glycosyltransferase 39 family.
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

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 IBA --
GO:0016740 transferase activity IEA --
GO:0016757 transferase activity, transferring glycosyl groups 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

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

  • Taconic Biosciences Mouse Models for POMT1

CRISPR Products

Inhibitory RNA Products

Clone Products

No data available for 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
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for POMT1 gene
Compartment Confidence
endoplasmic reticulum 5
plasma membrane 3
extracellular 2

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 TAS --
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane TAS,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

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:0006486 protein glycosylation IEA --
GO:0006493 protein O-linked glycosylation TAS --
GO:0007275 multicellular organism development TAS 10366449
GO:0030198 extracellular matrix organization IEA --
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
Manganese Approved Nutra 34
dolichol phosphate Pharma Competitive, Inhibitor 0
calcium Nutra 0
Magnesium Nutra 0

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

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:

CRISPR Products

Inhibitory RNA Products

Clone Products

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 from GTEx, Illumina, BioGPS, and CGAP SAGE 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, MaxQB, and MOPED for POMT1 Gene



Protein tissue co-expression partners for POMT1 Gene

NURSA nuclear receptor signaling pathways regulating expression of POMT1 Gene:

POMT1

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.

Evidence on tissue expression from TISSUES for POMT1 Gene

  • Nervous system(4.9)
  • Liver(4.2)
  • Lung(2.4)
  • Muscle(2.4)

Phenotype-based relationships between genes and organs from Gene ORGANizer for POMT1 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • digestive
  • endocrine
  • integumentary
  • nervous
  • reproductive
  • respiratory
  • skeletal muscle
  • skeleton
  • urinary
Organs:
Head and neck:
  • brain
  • cerebellum
  • cerebrospinal fluid
  • cheek
  • chin
  • cranial nerve
  • ear
  • eye
  • face
  • forehead
  • head
  • inner ear
  • jaw
  • larynx
  • lip
  • mandible
  • maxilla
  • meninges
  • middle ear
  • mouth
  • neck
  • nose
  • outer ear
  • pituitary gland
  • skull
  • tongue
  • vocal cord
Thorax:
  • breast
  • chest wall
  • clavicle
  • heart
  • heart valve
  • lung
  • rib
  • rib cage
  • scapula
  • sternum
Abdomen:
  • intestine
  • kidney
  • large intestine
Pelvis:
  • anus
  • ovary
  • pelvis
  • penis
  • placenta
  • prostate
  • rectum
  • testicle
  • ureter
  • uterus
  • vagina
  • vulva
Limb:
  • ankle
  • arm
  • digit
  • elbow
  • femur
  • fibula
  • finger
  • foot
  • forearm
  • hand
  • hip
  • humerus
  • knee
  • lower limb
  • radius
  • shin
  • shoulder
  • thigh
  • tibia
  • toe
  • ulna
  • upper limb
  • wrist
General:
  • blood
  • blood vessel
  • hair
  • peripheral nerve
  • peripheral nervous system
  • red blood cell
  • skin
  • spinal column
  • spinal cord
  • vertebrae
genes like me logo Genes that share expression patterns with POMT1: view

Primer 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
chimpanzee
(Pan troglodytes)
Mammalia POMT1 34 35
  • 99.54 (n)
dog
(Canis familiaris)
Mammalia POMT1 34 35
  • 87.36 (n)
cow
(Bos Taurus)
Mammalia POMT1 34 35
  • 84.05 (n)
mouse
(Mus musculus)
Mammalia Pomt1 34 16 35
  • 83.52 (n)
rat
(Rattus norvegicus)
Mammalia Pomt1 34
  • 83.31 (n)
oppossum
(Monodelphis domestica)
Mammalia POMT1 35
  • 79 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia -- 35
  • 77 (a)
OneToMany
-- 35
  • 71 (a)
OneToMany
chicken
(Gallus gallus)
Aves POMT1 34 35
  • 73.94 (n)
lizard
(Anolis carolinensis)
Reptilia POMT1 35
  • 64 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia pomt1 34
  • 69.12 (n)
Str.18829 34
zebrafish
(Danio rerio)
Actinopterygii pomt1 34 35
  • 66.06 (n)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP010784 34
  • 53.91 (n)
fruit fly
(Drosophila melanogaster)
Insecta rt 36 34 35
  • 52.76 (n)
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_ABL085W 34
  • 45.06 (n)
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0B03762g 34
  • 44.79 (n)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes PMT4 34
  • 43.06 (n)
PMT2 35
  • 28 (a)
ManyToMany
PMT3 35
  • 27 (a)
ManyToMany
PMT6 35
  • 27 (a)
ManyToMany
bread mold
(Neurospora crassa)
Ascomycetes NCU09332 34
  • 48.83 (n)
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes ogm4 34
  • 43.46 (n)
Species where no ortholog for POMT1 was found in the sources mined by GeneCards:
  • 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
rs119462982 Pathogenic, Muscular dystrophy-dystroglycanopathy limb-girdle C1 (MDDGC1) [MIM:609308] 131,509,801(+) CCTGT(C/G)CAGTG nc-transcript-variant, reference, missense, utr-variant-5-prime
rs119462983 Pathogenic, Muscular dystrophy-dystroglycanopathy congenital with mental retardation B1 (MDDGB1) [MIM:613155] 131,506,184(+) ACAGT(A/G)GGCCG intron-variant, nc-transcript-variant, reference, missense, utr-variant-5-prime
rs119462984 Pathogenic, Muscular dystrophy-dystroglycanopathy congenital with mental retardation B1 (MDDGB1) [MIM:613155] 131,520,175(+) TACTG(C/G)CTGCA nc-transcript-variant, upstream-variant-2KB, reference, missense
rs119462986 Pathogenic, Muscular dystrophy-dystroglycanopathy congenital with mental retardation B1 (MDDGB1) [MIM:613155] 131,521,351(+) GCTCA(C/G)ATCCA nc-transcript-variant, reference, missense
rs119462987 Pathogenic, Muscular dystrophy-dystroglycanopathy congenital with mental retardation B1 (MDDGB1) [MIM:613155] 131,522,160(+) TGCCC(A/G)CACTC nc-transcript-variant, reference, missense

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

Variant ID Type Subtype PubMed ID
dgv12919n54 CNV loss 21841781
dgv1512e214 CNV gain 21293372
esv1270653 CNV insertion 17803354
esv1751376 CNV insertion 17803354
esv21820 CNV loss 19812545
esv2739118 CNV deletion 23290073
esv2739119 CNV deletion 23290073
esv2739120 CNV deletion 23290073
esv2739121 CNV deletion 23290073
esv2759718 CNV gain 17122850
esv34928 CNV gain 17911159
esv3621887 CNV loss 21293372
nsv1076210 CNV deletion 25765185
nsv1128524 CNV deletion 24896259
nsv438114 CNV loss 16468122
nsv466603 CNV loss 19166990
nsv517936 CNV loss 19592680
nsv615563 CNV loss 21841781
nsv615565 CNV loss 21841781
nsv818728 CNV gain 17921354
nsv831740 CNV loss 17160897
nsv831741 CNV loss 17160897
nsv831742 CNV loss 17160897

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

Human Gene Mutation Database (HGMD)
POMT1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
POMT1

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

Disorders for POMT1 Gene

MalaCards: The human disease database

(21) 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
  • autosomal recessive limb-girdle muscular dystrophy type 2k
muscular dystrophy-dystroglycanopathy , type a, 1
  • muscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies a1
muscular dystrophy-dystroglycanopathy , type b, 1
  • muscular dystrophy-dystroglycanopathy congenital with mental retardation b1
congenital muscular dystrophy with intellectual disability
  • cmd with intellectual disability
walker-warburg syndrome
  • cerebroocular dysplasia-muscular dystrophy 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. Congenital muscular dystrophies with defective glycosylation of dystroglycan: a population study. (PMID: 19299310) Mercuri E. … Bertini E. (Neurology 2009) 3 4 22 46 64
  2. 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 22 64
  3. POMT1 and POMT2 mutations in CMD patients: a multicentric Italian study. (PMID: 18513969) Messina S. … Mercuri E. (Neuromuscul. Disord. 2008) 3 22 46 64
  4. Refining genotype phenotype correlations in muscular dystrophies with defective glycosylation of dystroglycan. (PMID: 17878207) Godfrey C. … Muntoni F. (Brain 2007) 3 22 46 64
  5. Mutations in POMT1 are found in a minority of patients with Walker- Warburg syndrome. (PMID: 15637732) Currier S.C. … Walsh C.A. (Am. J. Med. Genet. A 2005) 3 4 22 64

Products for POMT1 Gene

Sources for POMT1 Gene

Content
Loading form....