Human Gene POMT1 (ENST00000372228.9) from GENCODE V44
Description: Homo sapiens protein O-mannosyltransferase 1 (POMT1), transcript variant 1, mRNA. (from RefSeq NM_007171) RefSeq Summary (NM_007171): 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]. Sequence Note: The RefSeq transcript and protein were derived from genomic sequence to make the sequence consistent with the reference genome assembly. The genomic coordinates used for the transcript record were based on alignments. Gencode Transcript: ENST00000372228.9 Gencode Gene: ENSG00000130714.19 Transcript (Including UTRs) Position: hg38 chr9:131,502,789-131,523,799 Size: 21,011 Total Exon Count: 20 Strand: + Coding Region Position: hg38 chr9:131,504,219-131,523,106 Size: 18,888 Coding Exon Count: 19
ID:POMT1_HUMAN DESCRIPTION: RecName: Full=Protein O-mannosyl-transferase 1; EC=2.4.1.109; AltName: Full=Dolichyl-phosphate-mannose--protein mannosyltransferase 1; 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. CATALYTIC ACTIVITY: Dolichyl phosphate D-mannose + protein = dolichyl phosphate + O-D-mannosylprotein. COFACTOR: Magnesium. Manganese and calcium ions suppress enzyme activity. PATHWAY: Protein modification; protein glycosylation. SUBUNIT: Interacts with POMT2 (Probable). SUBCELLULAR LOCATION: Endoplasmic reticulum membrane; Multi-pass membrane protein. TISSUE SPECIFICITY: Widely expressed. Highly expressed in testis, heart and pancreas. Detected at lower levels in kidney, skeletal muscle, brain, placenta, lung and liver. DISEASE: Defects in POMT1 are the cause of muscular dystrophy- dystroglycanopathy congenital with mental retardation type B1 (MDDGB1) [MIM:613155]; also called muscular dystrophy congenital POMT1-related. MDDGB1 is an autosomal recessive disorder characterized by congenital muscular dystrophy associated with mental retardation and mild structural brain abnormalities. DISEASE: Defects in POMT1 are the cause of muscular dystrophy- dystroglycanopathy congenital with brain and eye anomalies type A1 (MDDGA1) [MIM:236670]; also known as hydrocephalus-agyria-retinal dysplasia or HARD syndrome. MDDGA1 is an autosomal recessive disorder characterized by cobblestone lissencephaly, hydrocephalus, agyria, retinal displasia, with or without encephalocele. It is often associated with congenital muscular dystrophy and usually lethal within the first few months of life. Included diseases are the more severe Walker-Warburg syndrome and the slightly less severe muscle-eye-brain disease. DISEASE: Defects in POMT1 are the cause of muscular dystrophy- dystroglycanopathy limb-girdle type C1 (MDDGC1) [MIM:609308]; also called autosomal recessive limb-girdle muscular dystrophy with mental retardation. MDDGC1 is a novel form of recessive limb girdle muscular dystrophy with mild mental retardation without any obvious structural brain abnormality, associated with an abnormal alpha-dystroglycan pattern in the muscle. MDDGC1 is a significantly milder allelic form of WWS. SIMILARITY: Belongs to the glycosyltransferase 39 family. SIMILARITY: Contains 3 MIR domains. SEQUENCE CAUTION: Sequence=BAA91135.1; Type=Erroneous initiation; Note=Translation N-terminally extended; Sequence=BAA91190.1; Type=Erroneous initiation; Note=Translation N-terminally extended; WEB RESOURCE: Name=GeneReviews; URL="http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/POMT1"; WEB RESOURCE: Name=GGDB; Note=GlycoGene database; URL="http://riodb.ibase.aist.go.jp/rcmg/ggdb/";
The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.
Pfam Domains: PF02815 - MIR domain PF02366 - Dolichyl-phosphate-mannose-protein mannosyltransferase
ModBase Predicted Comparative 3D Structure on Q9Y6A1
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Orthologous Genes in Other Species
Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
Gene Ontology (GO) Annotations with Structured Vocabulary
Molecular Function: GO:0000030 mannosyltransferase activity GO:0004169 dolichyl-phosphate-mannose-protein mannosyltransferase activity GO:0016740 transferase activity GO:0016757 transferase activity, transferring glycosyl groups GO:0046872 metal ion binding
Biological Process: GO:0005975 carbohydrate metabolic process GO:0006486 protein glycosylation GO:0006493 protein O-linked glycosylation GO:0007275 multicellular organism development GO:0030198 extracellular matrix organization GO:0035269 protein O-linked mannosylation GO:0071712 ER-associated misfolded protein catabolic process GO:0097502 mannosylation GO:1904100 positive regulation of protein O-linked glycosylation