help  | about  | cite  | software

Gene : MPDU1 Homo sapiens

Name  ? mannose-P-dolichol utilization defect 1 Cytological Location  17p13.1
Brief Description  mannose-P-dolichol utilization defect 1
description  This gene encodes an endoplasmic reticulum membrane protein that is required for utilization of the mannose donor mannose-P-dolichol in the synthesis of lipid-linked oligosaccharides and glycosylphosphatidylinositols. Mutations in this gene result in congenital disorder of glycosylation type If. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2008]
  • synonyms:
  • HGNC:7207,
  • PQLC5,
  • PQLC5,
  • Lec35,
  • uc002ghw.4,
  • CDGIf,
  • SL15,
  • PP3958,
  • OTTHUMG00000108147,
  • SLC66A5,
  • MPDU1,
  • AF038961,
  • My008,
  • Lec35,
  • SL15,
  • CDGIF,
  • SLC66A5,
  • HBEBP2BPA,
  • NM_001330073
  • identifiers:
  • 9526,
  • ENSG00000129255,
  • MPDU1

Genome feature

Region: gene ? Length: 4566  
Location: 17:7583647-7588212 Cyto location: 17p13.1


Uni Prot Comments Displayer

Protein Atlas Displayer

Gene Expression Atlas Tissues Displayer

Gene Expression Atlas Diseases Displayer

Publication Counts Displayer

Curated Proteins Displayer

Function

Gene Ontology Displayer

Gene --> GO terms.

Gene -> HPO annotation (Human Phenotype Ontology)

Mouse Gene --> Allele [Phenotype]

Genomics

J Browse Displayer

Gene Structure Displayer

Overlapping Features Displayer

Mouse Alleles Displayer

Gene --> Chromosomal location.

Gene --> GO terms.

Gene --> Overlapping genes.

Proteins

Gene --> Proteins.

SNPs

Gene Report --> GWAS hit

Disease

1 Diseases

Gene (Hum OR Rat) --> Mouse Allele (Phenotype)

Gene --> Alleles and Disease (clinVar data)

Gene -> HPO annotation (Human Phenotype Ontology)

Mouse Gene --> Allele [Phenotype]

Homology

Homologue Displayer

Gene --> Orthologues

Interactions

Cytoscape Network Displayer

Gene --> Physical and Genetic Interactions

Expression

Gene(s) --> Significant SNPs (GTex data)

Gene Ontology

Gene --> GO terms.

 

Other

37 SN Ps

5 Cross References

19 Data Sets

7 Homologues

0 Located Features

90 Rna Seq Results