DHDDS

Protein identityUniProt · HPA

UniProt accession

Q86SQ9

Gene

DHDDS

Ensembl

ENSG00000117682

Chromosome

1

Canonical length

333 aa

Protein class

Disease related genes, Enzymes, Human disease related genes, Metabolic proteins, Potential drug targets, Predicted intracellular proteins

Subcellular location

Plasma membrane

OverviewNCBI Gene

The protein encoded by this gene catalyzes cis-prenyl chain elongation to produce the polyprenyl backbone of dolichol, a glycosyl carrier lipid required for the biosynthesis of several classes of glycoproteins. Mutations in this gene are associated with retinitis pigmentosa type 59. Alternatively spliced transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Aug 2011]

Canonical amino-acid sequenceUniProt

333 residues, UniProt reviewed canonical sequence.

>Q86SQ9|DHDDS
     1  MSWIKEGELS LWERFCANII KAGPMPKHIA FIMDGNRRYA KKCQVERQEG HSQGFNKLAE
    61  TLRWCLNLGI LEVTVYAFSI ENFKRSKSEV DGLMDLARQK FSRLMEEKEK LQKHGVCIRV
   121  LGDLHLLPLD LQELIAQAVQ ATKNYNKCFL NVCFAYTSRH EISNAVREMA WGVEQGLLDP
   181  SDISESLLDK CLYTNRSPHP DILIRTSGEV RLSDFLLWQT SHSCLVFQPV LWPEYTFWNL
   241  FEAILQFQMN HSVLQKARDM YAEERKRQQL ERDQATVTEQ LLREGLQASG DAQLRRTRLH
   301  KLSARREERV QGFLQALELK RADWLARLGT ASA

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against DHDDS can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.

Antibody reachability

Other membrane

Secreted

No

Transmembrane segments

0

Mean surface accessibility (rSASA)

0.26

Highest tissue expression

75 nTPM

Expression across tissuesHPA

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about DHDDS.

Disease | AllUniProt

Conditions DHDDS is implicated in, by any mechanism.

• Retinitis pigmentosa 59 (RP59) MIM:613861
• Developmental delay and seizures with or without movement abnormalities (DEDSM) MIM:617836

Disease | GeneticClinVar

42 pathogenic / likely-pathogenic of 635 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

• Retinitis pigmentosa 59
• Developmental delay and seizures with or without movement abnormalities
• Inborn genetic diseases
• Retinitis pigmentosa
• Congenital disorder of glycosylation, type Ibb

Genetic constraint and essentialitygnomAD · DepMap

Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.

gnomAD LOEUF (loss-of-function intolerance)

0.51

gnomAD pLI

0.25

gnomAD missense Z

1.09

DepMap mean gene effect

-2.16

DepMap dependency class

pan

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 5% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

• dolichyl diphosphate biosynthetic process
• dolichyl monophosphate biosynthetic process
• polyprenol biosynthetic process

Molecular functions

• ditrans,polycis-polyprenyl diphosphate synthase [(2E,6E)-farnesyl diphosphate specific] activity
• metal ion binding

Cellular components

• dehydrodolichyl diphosphate synthase complex
• endoplasmic reticulum
• endoplasmic reticulum membrane

Protein domainsUniProt · Pfam · InterPro

• Decaprenyl diphosphate synthase-like
• Decaprenyl diphosphate synthase-like superfamily
• Putative undecaprenyl diphosphate synthase
• Di-trans-poly-cis-decaprenylcistransferase-like, conserved site

KeywordsUniProt

• Endoplasmic reticulum
• Epilepsy
• Intellectual disability
• Lipid metabolism
• Magnesium
• Membrane
• Metal-binding
• Retinitis pigmentosa
• Transferase

InteractionsUniProt · HPA

Protein binding partners of DHDDS in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.

• NPC2