Property Summary

NCBI Gene PubMed Count 17
Grant Count 92
R01 Count 43
Funding $26,851,563.83
PubMed Score 680.04
PubTator Score 36.89

Knowledge Summary

Patent

No data available

Expression

Synonym

Accession Q86SQ9 B7Z4B9 B7ZB20 D3DPK7 D3DPK8 D3DPK9 E9KL43 Q5T0A4 Q8NE90 Q9BTG5 Q9BTK3 Q9H905
Symbols DS
CIT
CPT
HDS
RP59

Gene

PANTHER Protein Class (2)

Gene RIF (8)

PMID Text
25255364 We identified the MAK and DHDDS mutations homozygously in only 2.1% and 0.8%, respectively, of patients of mixed ethnicity, but in 25.7% and 8.6%, respectively, of cases reporting Jewish ancestry
24664694 A single-nucleotide mutation in the gene that encodes DHDDS has been identified by whole exome sequencing as the cause of the non-syndromic recessive retinitis pigmentosa (RP) in a family of Ashkenazi Jewish origin.
21295283 A variant in DHDDS is associated with retinitis pigmentosa.
21295282 A missense mutation in DHDDS is associated with autosomal-recessive retinitis pigmentosa.
20379614 Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
15850770 molecular cloning; results suggest a regulatory relationship between CPT activity and dolichol biosynthesis, and may implicate CPT in the levels of dolichol-oligosaccharide intermediate biosynthesis
14652022 identification and characterization; overexpression of CIT in CHO cells results in a modest increase in cis-isoprenyltransferase activity associated with microsomal fractions
12591616 identification and amino acid sequence expressed in yeast

AA Sequence

MSWIKEGELSLWERFCANIIKAGPMPKHIAFIMDGNRRYAKKCQVERQEGHSQGFNKLAETLRWCLNLGI      1 - 70
LEVTVYAFSIENFKRSKSEVDGLMDLARQKFSRLMEEKEKLQKHGVCIRVLGDLHLLPLDLQELIAQAVQ     71 - 140
ATKNYNKCFLNVCFAYTSRHEISNAVREMAWGVEQGLLDPSDISESLLDKCLYTNRSPHPDILIRTSGEV    141 - 210
RLSDFLLWQTSHSCLVFQPVLWPEYTFWNLFEAILQFQMNHSVLQKARDMYAEERKRQQLERDQATVTEQ    211 - 280
LLREGLQASGDAQLRRTRLHKLSARREERVQGFLQALELKRADWLARLGTASA                     281 - 333
//

Text Mined References (18)

PMID Year Title
25944712 2015 N-terminome analysis of the human mitochondrial proteome.
25255364 2015 Two specific mutations are prevalent causes of recessive retinitis pigmentosa in North American patients of Jewish ancestry.
25066056 2014 Mutation of Nogo-B receptor, a subunit of cis-prenyltransferase, causes a congenital disorder of glycosylation.
24664694 2014 Mutation K42E in dehydrodolichol diphosphate synthase (DHDDS) causes recessive retinitis pigmentosa.
21572394 2011 Nogo-B receptor is necessary for cellular dolichol biosynthesis and protein N-glycosylation.
21295283 2011 Whole-exome sequencing links a variant in DHDDS to retinitis pigmentosa.
21295282 2011 A missense mutation in DHDDS, encoding dehydrodolichyl diphosphate synthase, is associated with autosomal-recessive retinitis pigmentosa in Ashkenazi Jews.
20736409 2010 Systematic mapping and functional analysis of a family of human epididymal secretory sperm-located proteins.
20379614 Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
16710414 2006 The DNA sequence and biological annotation of human chromosome 1.
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