InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: DHDDS

Summary

InnateDB Protein

IDBP-94654.7

Last Modified

2014-10-13 [Report errors or provide feedback]

Gene Symbol

DHDDS

Protein Name

dehydrodolichyl diphosphate synthase

Synonyms

Species

Homo sapiens

Ensembl Protein

ENSP00000353104

InnateDB Gene

IDBG-94642 (DHDDS)

Protein Structure

UniProt Annotation

Function

Catalyzes cis-prenyl chain elongation to produce the polyprenyl backbone of dolichol, a glycosyl carrier-lipid required for the biosynthesis of several classes of glycoprotein. {ECO:0000269PubMed:14652022}.

Subcellular Localization

Endoplasmic reticulum membrane {ECO:0000269PubMed:14652022}; Peripheral membrane protein {ECO:0000269PubMed:14652022}. Note=colocalizes with calnexin.

Disease Associations

Retinitis pigmentosa 59 (RP59) [MIM:613861]: A retinal dystrophy belonging to the group of pigmentary retinopathies. Retinitis pigmentosa is characterized by retinal pigment deposits visible on fundus examination and primary loss of rod photoreceptor cells followed by secondary loss of cone photoreceptors. Patients typically have night vision blindness and loss of midperipheral visual field. As their condition progresses, they lose their far peripheral visual field and eventually central vision as well. {ECO:0000269PubMed:21295283}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Tissue Specificity

Expressed at high levels in testis and kidney. Expressed in epididymis (at protein level). Slightly expressed in heart, spleen and thymus. {ECO:0000269PubMed:20736409}.

Comments

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 5 experimentally validated interaction(s) in this database.

Experimentally validated
Total	5 [view]
Protein-Protein	4 [view]
Protein-DNA	1 [view]
Protein-RNA	0
DNA-DNA	0
RNA-RNA	0
DNA-RNA	0

Gene Ontology

Molecular Function

Accession	GO Term
GO:0005515	protein binding
GO:0016765	transferase activity, transferring alkyl or aryl (other than methyl) groups

Biological Process

GO:0006488	dolichol-linked oligosaccharide biosynthetic process
GO:0006489	dolichyl diphosphate biosynthetic process
GO:0008152	metabolic process
GO:0018279	protein N-linked glycosylation via asparagine
GO:0043687	post-translational protein modification
GO:0044267	cellular protein metabolic process