DPM1 dolichyl-phosphate mannosyltransferase subunit 1, catalytic
Gene ID: 8813, updated on 7-Apr-2024Gene type: protein coding
Also known as: MPDS; CDGIE
- See all available tests in GTR for this gene
- Go to complete Gene record for DPM1
- Go to Variation Viewer for DPM1 variants
Summary
Dolichol-phosphate mannose (Dol-P-Man) serves as a donor of mannosyl residues on the lumenal side of the endoplasmic reticulum (ER). Lack of Dol-P-Man results in defective surface expression of GPI-anchored proteins. Dol-P-Man is synthesized from GDP-mannose and dolichol-phosphate on the cytosolic side of the ER by the enzyme dolichyl-phosphate mannosyltransferase. Human DPM1 lacks a carboxy-terminal transmembrane domain and signal sequence and is regulated by DPM2. Mutations in this gene are associated with congenital disorder of glycosylation type Ie. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2015]
Associated conditions
See all available tests in GTR for this gene
| Description | Tests |
|---|---|
| Congenital disorder of glycosylation type 1E | See labs |
Genomic context
- Location:
- 20q13.13
- Sequence:
- Chromosome: 20; NC_000020.11 (50934855..50958564, complement)
- Total number of exons:
- 10
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for DPM1 variants |
| Genome viewer | Explore NCBI-annotated and select non-NCBI annotated genome assemblies |
- ClinVarRelated medical variations
- dbVarLink from Gene to dbVar
- DPM1 database
- MedGenRelated information in MedGen
- OMIMLink to related OMIM entry
- PubMed (OMIM)Gene links to PubMed derived from omim_pubmed_cited links
- RefSeq RNAsLink to Nucleotide RefSeq RNAs
- RefSeqGeneLink to Nucleotide RefSeqGenes
- Variation ViewerRelated Variants
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