AutismKB 2.0

Annotation Details for POMT1


View Evidences View Variants View Annotations
Basic Information Top
Gene Symbol:POMT1 ( FLJ37239,LGMD2K,RT )
Gene Full Name: protein-O-mannosyltransferase 1
Band: 9q34.13
Quick LinksEntrez ID:10585; OMIM: 607423; Uniprot ID:POMT1_HUMAN; ENSEMBL ID: ENSG00000130714; HGNC ID: 9202
Relate to Another Database: SFARIGene; denovo-db
Gene Ontology Top
GO ID Evidence Qualifier GO_term References
GO:0001669IEA-acrosomal vesicle-
GO:0005783TAS-endoplasmic reticulum10366449
GO:0005789IDA-endoplasmic reticulum membrane14699049
GO:0005789TAS-endoplasmic reticulum membrane-
GO:0016021IEA-integral component of membrane-
GO:0016529IEA-sarcoplasmic reticulum-
GO ID Evidence Qualifier GO_term References
GO:0000030TAS-mannosyltransferase activity10366449
GO:0004169IBA-dolichyl-phosphate-mannose-protein mannosyltransferase activity-
GO:0046872IEA-metal ion binding-
GO ID Evidence Qualifier GO_term References
GO:0005975TAS-carbohydrate metabolic process10366449
GO:0006493TAS-protein O-linked glycosylation-
GO:0007275TAS-multicellular organism development10366449
GO:0030198IEA-extracellular matrix organization-
GO:0035269IEA-protein O-linked mannosylation-
GO:0071712IBA-ER-associated misfolded protein catabolic process-
GO:1904100IEA-positive regulation of protein O-linked glycosylation-
Protein-Protein Interaction Top
AlzGene, PDGene and SZGene Top
Gene Symbol Poly Names Gene overview in AlzGene
POMT1rs2018621, rs7865761 Gene overview in AlzGene
No data
No data
Animal Model Top
  • MGI ID: MGI:2138994
  • Data Attributes: MGI curated and HomoloGene calculated
SELECT * FROM lijr_20110218_zfin_genotype_phenotype WHERE ZFIN_Gene_ID='ZDB-GENE-060929-966'