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Tbio Protein O-mannosyl-transferase 1

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.

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]

 Comments

Property Summary

NCBI Gene PubMed Count 38
PubMed Score 38.33
PubTator Score 53.31

Knowledge Summary

Patent

No data available

TINX Plot

  Disease (7)

Disease Target Count
Muscular dystrophy 75
Intellectual disability 1016
Hydrocephalus 152
Abnormality of the voice 46
Abnormally small eyeball 97
Absent auditory canals 23
Absent external auditory canals 23
Absent speech 43
Agenesis of corpus callosum 83
Anus, Imperforate 46
Atresia of the external auditory canal 23
Atretic auditory canal 23
Atrophic retina 7
Autosomal recessive predisposition 1442
Bell Palsy 58
Blind Vision 111
Blindness, Legal 110
Cataract 297
Cerebellar Hypoplasia 61
Cerebellar dysplasia 8
Cleft Lip 141
Cleft Palate 271
Clouding of corneal stroma 50
Cobblestone Lissencephaly 8
Cognitive delay 608
Congenital joint contractures 9
Congenital keratoglobus 14
Congenital muscular dystrophy (disorder) 14
Congenital ocular coloboma (disorder) 40
Congenital small ears 48
Contracture 96
Contracture of joint 93
Corneal Opacity 53
Corneal diameter increased 13
Creatine phosphokinase serum increased 110
Dandy-Walker Syndrome 39
Decreased size of eyeball 97
Difficulty walking 28
Difficulty walking up stairs 12
Dull intelligence 645
Easy fatigability 18
Electroencephalogram abnormal 101
Electromyogram abnormal 49
Elevated creatine kinase 110
Enlarged cisterna magna 2
Epilepsy 792
Excessive daytime somnolence 14
Facial Paresis 59
Facial muscle weakness of muscles innervated by CN VII 58
Flexion contracture 93
Flexion contractures of joints 93
Gait abnormality 135
Glaucoma 239
Global developmental delay 608
Globe of eye large 20
Highly variable clinical phenotype 150
Highly variable phenotype and severity 150
Highly variable phenotype, even within families 150
Highly variable severity 157
Hydrophthalmos 19
Hypoplasia of corpus callosum 90
Hypoplasia of the brainstem 22
Hypoplasia of the optic nerve 17
Hypoplastic male genitalia 7
Hypotonia, severe 33
Impaired cognition 96
Infantile onset 238
Irido-corneo-trabecular dysgenesis (disorder) 10
Lens Opacities 231
Limb-girdle muscle weakness 12
Low Vision 174
Low intelligence 645
Lumbar lordosis 35
MUSCULAR DYSTROPHY, CONGENITAL, 1C 9
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2K 1
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 14 7
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 2 7
Macroglossia 65
Meningoencephalocele 4
Mental Retardation 645
Mental and motor retardation 608
Mental deficiency 645
Mental impairment 95
Microphthalmos 100
Motor delay 147
Muscle Hypertonia 88
Muscle biopsy shows dystrophic changes 39
Muscle eye brain disease 8
Muscle hypotonia 571
Muscular Dystrophy, Congenital, Type 1D 5
Myopathy 185
Myopia 176
No development of motor milestones 147
Occipital Encephalocele 10
Optic Atrophy 242
Pachygyria 41
Phenotypic variability 150
Polymicrogyria 48
Poor school performance 645
Posterior fossa cyst 8
Profound Mental Retardation 31
Profound intellectual disabilities 31
RENAL ADYSPLASIA 25
Renal dysplasia 28
Retinal Degeneration 106
Retinal Detachment 51
Retinal Dysplasia 11
Seizures 596
Severe mental retardation (I.Q. 20-34) 99
Slow progression 89
Small head 374
Speech Disorders 58
Spinal rigidity 13
Strabismus 270
Thick cerebral cortex 5
Tires quickly 18
Uranostaphyloschisis 167
Variable expressivity 157
Visual Impairment 174
Walker-Warburg congenital muscular dystrophy 14
nonverbal 43
Disease Target Count P-value
malignant mesothelioma 3232 4.9e-06
osteosarcoma 7950 9.4e-04
Disease Target Count Z-score Confidence
Carcinoma 11493 0.0 0.9
Disease Target Count Z-score Confidence
Microcephaly 166 3.163 1.6

Expression

  Differential Expression (2)

Disease log2 FC p
malignant mesothelioma -1.100 4.9e-06
osteosarcoma -1.308 9.4e-04

Synonym

Accession Q9Y6A1 B3KQG0 B4DIF0 Q5JT01 Q5JT06 Q5JT08 Q8NC91 Q8TCA9 Q9NX32 Q9NX82 Q9UNT2
Symbols RT
LGMD2K
MDDGA1
MDDGB1
MDDGC1

Gene

POMT1

  Ortholog (1)

Species Source Disease
Chimp OMA EggNOG

 UniProt Keyword (18)

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 GO Function (3)

 GO Component (5)

 GO Process (6)

 Compartment GO Term (29)

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 OMIM Phenotype (3)

 MGI Phenotype (6)

 HCA RNA Cell Line (56)

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Pathway (7)

Gene RIF (27)

AA Sequence 

MWGFLKRPVVVTADINLSLVALTGMGLLSRLWRLTYPRAVVFDEVYYGQYISFYMKQIFFLDDSGPPFGH      1 - 70
MVLALGGYLGGFDGNFLWNRIGAEYSSNVPVWSLRLLPALAGALSVPMAYQIVLELHFSHCAAMGAALLM     71 - 140
LIENALITQSRLMLLESVLIFFNLLAVLSYLKFFNCQKHSPFSLSWWFWLTLTGVACSCAVGIKYMGVFT    141 - 210
YVLVLGVAAVHAWHLLGDQTLSNVGADVQCCMRPACMGQMQMSQGVCVFCHLLARAVALLVIPVVLYLLF    211 - 280
FYVHLILVFRSGPHDQIMSSAFQASLEGGLARITQGQPLEVAFGSQVTLRNVFGKPVPCWLHSHQDTYPM    281 - 350
IYENGRGSSHQQQVTCYPFKDVNNWWIVKDPRRHQLVVSSPPRPVRHGDMVQLVHGMTTRSLNTHDVAAP    351 - 420
LSPHSQEVSCYIDYNISMPAQNLWRLEIVNRGSDTDVWKTILSEVRFVHVNTSAVLKLSGAHLPDWGYRQ    421 - 490
LEIVGEKLSRGYHGSTVWNVEEHRYGASQEQRERERELHSPAQVDVSRNLSFMARFSELQWRMLALRSDD    491 - 560
SEHKYSSSPLEWVTLDTNIAYWLHPRTSAQIHLLGNIVIWVSGSLALAIYALLSLWYLLRRRRNVHDLPQ    561 - 630
DAWLRWVLAGALCAGGWAVNYLPFFLMEKTLFLYHYLPALTFQILLLPVVLQHISDHLCRSQLQRSIFSA    631 - 700
LVVAWYSSACHVSNTLRPLTYGDKSLSPHELKALRWKDSWDILIRKH                           701 - 747
//

Text Mined References (39)

PMID Year Title