Format

Send to:

Choose Destination

DHDDS dehydrodolichyl diphosphate synthase subunit [ Homo sapiens (human) ]

Gene ID: 79947, updated on 16-Sep-2018

Summary

Official Symbol
DHDDSprovided by HGNC
Official Full Name
dehydrodolichyl diphosphate synthase subunitprovided by HGNC
Primary source
HGNC:HGNC:20603
See related
Ensembl:ENSG00000117682 MIM:608172; Vega:OTTHUMG00000003554
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
DS; CIT; CPT; HDS; RP59; DEDSM
Summary
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]
Expression
Ubiquitous expression in fat (RPKM 22.0), colon (RPKM 11.7) and 24 other tissues See more
Orthologs

Genomic context

See DHDDS in Genome Data Viewer
Location:
1p36.11
Exon count:
9
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 1 NC_000001.11 (26432282..26471306)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (26758773..26797797)

Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene zinc finger protein 683 Neighboring gene lin-28 homolog A Neighboring gene uncharacterized LOC101928324 Neighboring gene ribosomal protein L17 pseudogene 9 Neighboring gene high mobility group nucleosomal binding domain 2 Neighboring gene developmental pluripotency associated 2 pseudogene 2

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Jun 15 11:32:44 2016

Bibliography

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Pathways from BioSystems

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • FLJ13102

Gene Ontology Provided by GOA

Function Evidence Code Pubs
dehydrodolichyl diphosphate synthase activity IDA
Inferred from Direct Assay
more info
PubMed 
polyprenyltransferase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
contributes_to polyprenyltransferase activity IDA
Inferred from Direct Assay
more info
PubMed 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
dolichyl diphosphate biosynthetic process IDA
Inferred from Direct Assay
more info
PubMed 
polyprenol biosynthetic process IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Component Evidence Code Pubs
dehydrodolichyl diphosphate synthase complex IDA
Inferred from Direct Assay
more info
PubMed 
endoplasmic reticulum IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
endoplasmic reticulum membrane TAS
Traceable Author Statement
more info
 

General protein information

Preferred Names
dehydrodolichyl diphosphate synthase complex subunit DHDDS
Names
cis-IPTase
cis-isoprenyltransferase
cis-prenyl transferase
cis-prenyltransferase subunit hCIT
dedol-PP synthase
dehydrodolichyl diphosphate syntase complex subunit DHDDS
epididymis tissue protein Li 189m
NP_001230493.1
NP_001230494.1
NP_001306888.1
NP_079163.2
NP_995583.1

NCBI Reference Sequences (RefSeq)

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_029786.1 RefSeqGene

    Range
    5001..44025
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001243564.1NP_001230493.1  dehydrodolichyl diphosphate synthase complex subunit DHDDS isoform 3

    See identical proteins and their annotated locations for NP_001230493.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) lacks an in-frame coding exon compared to variant 1. This results in a shorter isoform (3) missing an internal protein segment compared to isoform 1.
    Source sequence(s)
    AK023164, AK297134, AK316485, AW294595, BX648507
    Consensus CDS
    CCDS57983.1
    UniProtKB/Swiss-Prot
    Q86SQ9
    Related
    ENSP00000434984.1, OTTHUMP00000038073, ENST00000525682.6, OTTHUMT00000096885
    Conserved Domains (1) summary
    cd00475
    Location:28214
    Cis_IPPS; Cis (Z)-Isoprenyl Diphosphate Synthases
  2. NM_001243565.1NP_001230494.1  dehydrodolichyl diphosphate synthase complex subunit DHDDS isoform 4

    See identical proteins and their annotated locations for NP_001230494.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (4) lacks an in-frame coding exon compared to variant 1. This results in a shorter isoform (4) missing an internal protein segment compared to isoform 1.
    Source sequence(s)
    AK023164, AW294595, BC004117, BX648507
    Consensus CDS
    CCDS57984.1
    UniProtKB/Swiss-Prot
    Q86SQ9
    Related
    ENSP00000434219.1, OTTHUMP00000234799, ENST00000526219.5, OTTHUMT00000392505
    Conserved Domains (1) summary
    cd00475
    Location:28209
    Cis_IPPS; Cis (Z)-Isoprenyl Diphosphate Synthases
  3. NM_001319959.1NP_001306888.1  dehydrodolichyl diphosphate synthase complex subunit DHDDS isoform 5

    Status: REVIEWED

    Description
    Transcript Variant: This variant (5) uses an alternate splice junction compared to variant 1. The resulting isoform (5) is shorter at the N-terminus compared to isoform 1.
    Source sequence(s)
    AL513365, AW294595, BX648507, DA756178
    Conserved Domains (1) summary
    cd00475
    Location:1155
    Cis_IPPS; Cis (Z)-Isoprenyl Diphosphate Synthases
  4. NM_024887.3NP_079163.2  dehydrodolichyl diphosphate synthase complex subunit DHDDS isoform 2

    See identical proteins and their annotated locations for NP_079163.2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) uses an alternate in-frame acceptor splice site at the 3' terminal exon compared to variant 1. This results in an isoform (2), which is 1 aa longer than isoform 1.
    Source sequence(s)
    AK023164, AW294595, BX648507
    Consensus CDS
    CCDS281.1
    UniProtKB/Swiss-Prot
    Q86SQ9
    Related
    ENSP00000353104.2, OTTHUMP00000003664, ENST00000360009.6, OTTHUMT00000009895
    Conserved Domains (1) summary
    cd00475
    Location:28248
    Cis_IPPS; Cis (Z)-Isoprenyl Diphosphate Synthases
  5. NM_205861.2NP_995583.1  dehydrodolichyl diphosphate synthase complex subunit DHDDS isoform 1

    See identical proteins and their annotated locations for NP_995583.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the predominant transcript, and encodes isoform 1.
    Source sequence(s)
    AB090852, AK023164, AW294595, BC003643, BX648507
    Consensus CDS
    CCDS282.1
    UniProtKB/Swiss-Prot
    Q86SQ9
    Related
    ENSP00000236342.7, OTTHUMP00000234798, ENST00000236342.11, OTTHUMT00000392504
    Conserved Domains (1) summary
    cd00475
    Location:28248
    Cis_IPPS; Cis (Z)-Isoprenyl Diphosphate Synthases

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109 details...Open this link in a new tab

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000001.11 Reference GRCh38.p12 Primary Assembly

    Range
    26432282..26471306
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Support Center