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FLASH GENE
Symbol POMT1 contributors: mct/shn - updated : 22-09-2012
HGNC name protein-O-mannosyltransferase 1
HGNC id 9202
Corresponding disease
LGMD2K limb-girdle muscular dystrophy 2K
WLKWS1 Walker-Warburg syndrome 1
Location 9q34.1      Physical location : 134.378.288 - 134.399.192
Synonym name
  • dolichyl-phosphate-mannose--protein mannosyltransferase 1
  • protein O-mannosyl-transferase 1
  • Synonym symbol(s) RP11-334J6.2, LGMD2K, MDDGA1, MDDGB1, MDDGC1, RT
    EC.number 2.4.1.109
    DNA
    TYPE functioning gene
    STRUCTURE 20.91 kb     20 Exon(s)
    10 Kb 5' upstream gene genomic sequence study
    MAPPING cloned Y linked N status provisional
    Map cen - D9S1861 - D9S1863 - POMT1 - D9S179 - D9S1847 - qter
    Authors Jurado (99)
    Text [POMT1 ]
    Physical map
    TOR1B 9q34 torsin family 1, member B (torsin B) LOC51759 DYT1 9q34 dystonia 1, torsion (autosomal dominant; torsin A) USP20 9q34.12-q34.13 ubiquitin specific protease 20 FNBP1 9q34 formin binding protein 1 GPR107 9q34.2 G protein-coupled receptor 107 LOC389795 9 similar to GCDRP FREQ 9q34 frequenin homolog (Drosophila) LOC392395 9 similar to hemicentin DKFZp434P0216 9q34.2 hemicentin-2 LOC389796 9 similar to CDNA sequence BC034076 LOC389797 9 similar to cDNA sequence BC034076 ASS 9q34.13 argininosuccinate synthetase PRDM12 9q33-q34 PR domain containing 12 RRP4 9q34 homolog of Yeast RRP4 (ribosomal RNA processing 4), 3'-5'-exoribonuclease ABL1 9q34.13 v-abl Abelson murine leukemia viral oncogene homolog 1 P518 9q34.2 P518 precursor protein FIBCD1 9q34.2 fibrinogen C domain containing 1 LAMC3 9q31-q34 laminin, gamma 3 C9orf58 9q34.13-q34.3 chromosome 9 open reading frame 58 NUP214 9q34.1-q34.2 nucleoporin 214kDa C9orf59 9q34 chromosome 9 open reading frame 59 C9orf67 9q34.2-q34.3 chromosome 9 open reading frame 67 LOC389798 9 similar to mKIAA0515 protein POMT1 9q34.1 protein-O-mannosyltransferase 1 UCK1 9q34.2 protein-O-mannosyltransferase 1 GRF2 9q34.3 guanine nucleotide-releasing factor 2 (specific for crk proto-oncogene) CRSP8 9q34.3 cofactor required for Sp1 transcriptional activation, subunit 8, 34kDa NTNG2 9q34 netrin G2 KIAA0625 9q25.3-q34.1 netrin G2 TTF1 9q34.13 transcription termination factor, RNA polymerase I LOC389799 9 hypothetical gene supported by AK128819 BARHL1 9q34 BarH-like 1 (Drosophila) DDX31 9q34.3 DEAD (Asp-Glu-Ala-Asp) box polypeptide 31 GTF3C4 9q34.3 general transcription factor IIIC, polypeptide 4, 90kDa FLJ32704 9q34.3 hypothetical protein FLJ32704 C9orf9 9q34 chromosome 9 open reading frame 9 TSC1 9q34.1-q34.2 tuberous sclerosis 1 GFI1B 9q34.13 growth factor independent 1B (potential regulator of CDKN1A, translocated in CML) LOC158078 9q34 eukaryotic translation elongation factor 1 alpha 1 pseudogene LOC389801 9 LOC389801 GTF3C5 9q34 general transcription factor IIIC, polypeptide 5, 63kDa CEL 9q34.2 carboxyl ester lipase (bile salt-stimulated lipase) CELP 9q34.2-q34.3 carboxyl ester lipase pseudogene RALGDS 9q34.1-q34.2 ral guanine nucleotide dissociation stimulator
    RNA
    TRANSCRIPTS type messenger
    text several alternatively spliced isoforms, widely expressed (Jurado)
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    20 - 3320 - 725 - 2010 19880378
    20 splicing 3146 - 747 - 2010 19880378
    20 splicing 3080 - 725 - 2010 19880378
    19 splicing 2928 - 671 - 2010 19880378
    18 splicing 2821 - 607 - 2010 19880378
    EXPRESSION
    Type ubiquitous
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Cardiovascularheart   highly Homo sapiens
    Digestiveliver   lowly Homo sapiens
    Endocrinepancreas   moderately Homo sapiens
    Nervousbrain   lowly Homo sapiens
    Reproductivefemale systemplacenta  lowly Homo sapiens
    Respiratorylung   lowly Homo sapiens
    Urinarykidney   moderately Homo sapiens
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Muscularstriatumskeletal highly Homo sapiens
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    physiological period fetal, pregnancy
    Text brain
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • three MIR domain
  • seven-transmembrane helices and four potential N-glycosylation sites
  • HOMOLOGY
    interspecies ortholog to Pomt1, Mus musculus
    ortholog to Pomt1, Rattus norvegicus
    ortholog to POMT1, Pan troglodytes
    ortholog to pomt1, Danio rerio
    Homologene
    FAMILY
    CATEGORY enzyme
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm,organelle,membrane
    intracellular,cytoplasm,organelle,endoplasmic reticulum
    basic FUNCTION
  • putative integral constituent of the endoplasmic reticulum membrane involved in O-mannosylation of proteins (essential to the alpha- dystroglycan stability)
  • POMT1 and POMT2 catalyzes the initial step of O-mannosyl glycan biosynthesis
  • POMT1 and POMT2 have discrete functions since the effect of amino acid substitutions on enzymatic activity are different
  • with POMT2, are responsible for the catalysis of the first step in O-mannosyl glycan synthesis
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    text catalysis of the first step in O-mannosyl glycan synthesis
    PATHWAY
    metabolism carbohydrate
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
    cell & other
    REGULATION
    Other N-glycosylation of POMT1 and POMT2 is required for maintaining the conformation as well as the activity of the POMT1-POMT2 complex
    ASSOCIATED DISORDERS
    corresponding disease(s) WLKWS1 , LGMD2K
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS
  • homozygous Pomt1(-/-) mice suffer developmental arrest around embryonic day (E) 7.5 and die between E7.5 and E9.5 with defects in the formation of Reichert's membrane
  • Amino acid substitution in POMT1 abolished enzymatic activity