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

Gene ID: 79947, updated on 11-Apr-2024

Summary

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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; AllianceGenome:HGNC:20603
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; hCIT; 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
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Genomic context

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See DHDDS in Genome Data Viewer
Location:
1p36.11
Exon count:
9
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (26432321..26471306)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (26270336..26309325)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (26758812..26797797)

Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr1:26745031-26745602 Neighboring gene lin-28 homolog A Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:26746747-26747317 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr1:26756121-26756849 Neighboring gene uncharacterized LOC124903883 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:26758031-26758567 Neighboring gene H3K27ac hESC enhancer GRCh37_chr1:26758568-26759104 Neighboring gene ribosomal protein L17 pseudogene 9 Neighboring gene DHDDS antisense RNA 1 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:26797538-26798246 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:26798247-26798956 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 478 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 479 Neighboring gene MPRA-validated peak134 silencer Neighboring gene high mobility group nucleosomal binding domain 2 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 480 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 481 Neighboring gene H3K27ac hESC enhancer GRCh37_chr1:26827864-26828521 Neighboring gene CRISPRi-validated cis-regulatory element chr1.3789 Neighboring gene developmental pluripotency associated 2 pseudogene 2

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • 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 Apr 4 07:08:55 2018

Bibliography

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Related articles in PubMed

  1. Phenotype of heterozygous variants of dehydrodolichol diphosphate synthase. Jiao X, et al. Dev Med Child Neurol, 2022 Jan. PMID 34275143
  2. Structural Characterization of Full-Length Human Dehydrodolichyl Diphosphate Synthase Using an Integrative Computational and Experimental Approach. Lisnyansky Bar-El M, et al. Biomolecules, 2019 Oct 28. PMID 31661879, Free PMC Article
  3. A case of fatal Type I congenital disorders of glycosylation (CDG I) associated with low dehydrodolichol diphosphate synthase (DHDDS) activity. Sabry S, et al. Orphanet J Rare Dis, 2016 Jun 24. PMID 27343064, Free PMC Article
  4. Mutation K42E in dehydrodolichol diphosphate synthase (DHDDS) causes recessive retinitis pigmentosa. Lam BL, et al. Adv Exp Med Biol, 2014. PMID 24664694
  5. A missense mutation in DHDDS, encoding dehydrodolichyl diphosphate synthase, is associated with autosomal-recessive retinitis pigmentosa in Ashkenazi Jews. Zelinger L, et al. Am J Hum Genet, 2011 Feb 11. PMID 21295282, Free PMC Article

See all (33) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Phenotype of heterozygous variants of dehydrodolichol diphosphate synthase.
    Title: Phenotype of heterozygous variants of dehydrodolichol diphosphate synthase.
  2. Structural basis of heterotetrameric assembly and disease mutations in the human cis-prenyltransferase complex.
    Title: Structural basis of heterotetrameric assembly and disease mutations in the human cis-prenyltransferase complex.
  3. HOXB4 promotes the malignant progression of ovarian cancer via DHDDS.
    Title: HOXB4 promotes the malignant progression of ovarian cancer via DHDDS.
  4. Structural elucidation of the cis-prenyltransferase NgBR/DHDDS complex reveals insights in regulation of protein glycosylation.
    Title: Structural elucidation of the cis-prenyltransferase NgBR/DHDDS complex reveals insights in regulation of protein glycosylation.
  5. Structural Characterization of Full-Length Human Dehydrodolichyl Diphosphate Synthase Using an Integrative Computational and Experimental Approach.
    Title: Structural Characterization of Full-Length Human Dehydrodolichyl Diphosphate Synthase Using an Integrative Computational and Experimental Approach.
  6. The clinical data show that in general, patients with biallelic MAK mutations had a later age of onset and a milder retinal phenotype compared with patients with biallelic DHDDS mutations.
    Title: Nonsyndromic Retinitis Pigmentosa in the Ashkenazi Jewish Population: Genetic and Clinical Aspects.
  7. Study describe a patient presenting with severe multisystem disease associated with DHDDS deficiency. As retinitis pigmentosa is the only clinical sign in previously reported cases, this report broadens the spectrum of phenotypes associated with this condition.
    Title: A case of fatal Type I congenital disorders of glycosylation (CDG I) associated with low dehydrodolichol diphosphate synthase (DHDDS) activity.
  8. findings show that eukaryotic cis-PT is composed of the NgBR and hCIT subunits. The strong conservation of the RXG motif among NgBR orthologs indicates that this subunit is critical for the synthesis of polyprenol diphosphates and cellular function.
    Title: A conserved C-terminal RXG motif in the NgBR subunit of cis-prenyltransferase is critical for prenyltransferase activity.
  9. 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
    Title: Two specific mutations are prevalent causes of recessive retinitis pigmentosa in North American patients of Jewish ancestry.
  10. 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.
    Title: Mutation K42E in dehydrodolichol diphosphate synthase (DHDDS) causes recessive retinitis pigmentosa.
Submit: New GeneRIF Correction See all GeneRIFs (16)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

Pathways from PubChem

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Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Clone Names

  • FLJ13102

Gene Ontology Provided by GOA

Function Evidence Code Pubs
contributes_to dehydrodolichyl diphosphate synthase activity IDA
Inferred from Direct Assay
more info
 PubMed 
enables metal ion binding IEA
Inferred from Electronic Annotation
more info
  
contributes_to polyprenyltransferase activity IDA
Inferred from Direct Assay
more info
 PubMed 
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
Process Evidence Code Pubs
involved_in dolichyl diphosphate biosynthetic process IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in polyprenol biosynthetic process IBA
Inferred from Biological aspect of Ancestor
more info
  
Component Evidence Code Pubs
part_of dehydrodolichyl diphosphate synthase complex IBA
Inferred from Biological aspect of Ancestor
more info
  
part_of dehydrodolichyl diphosphate synthase complex IDA
Inferred from Direct Assay
more info
 PubMed 
part_of dehydrodolichyl diphosphate synthase complex IPI
Inferred from Physical Interaction
more info
 PubMed 
is_active_in endoplasmic reticulum IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in endoplasmic reticulum membrane NAS
Non-traceable Author Statement
more info
 PubMed 
located_in endoplasmic reticulum membrane TAS
Traceable Author Statement
more info
  

General protein information

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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
XP_047286805.1
XP_047286806.1
XP_047286807.1
XP_047286808.1
XP_047286809.1
XP_047286810.1
XP_047286812.1
XP_047286813.1
XP_047286815.1
XP_047286816.1
XP_047286817.1
XP_047286818.1
XP_047286819.1
XP_047286820.1
XP_047286821.1
XP_054194796.1
XP_054194797.1
XP_054194798.1
XP_054194799.1
XP_054194800.1
XP_054194801.1
XP_054194802.1
XP_054194803.1
XP_054194804.1
XP_054194805.1
XP_054194806.1
XP_054194807.1
XP_054194808.1
XP_054194809.1
XP_054194810.1

NCBI Reference Sequences (RefSeq)

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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
    5040..44025
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001243564.2 → NP_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/TrEMBL
    A0A8V8TR89
    Related
    ENSP00000434984.1, ENST00000525682.6
    Conserved Domains (1) summary
    cd00475
    Location:28 → 214
    Cis_IPPS; Cis (Z)-Isoprenyl Diphosphate Synthases

  2. NM_001243565.2 → NP_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/TrEMBL
    A0A8V8TR89
    Related
    ENSP00000434219.1, ENST00000526219.5
    Conserved Domains (1) summary
    cd00475
    Location:28 → 209
    Cis_IPPS; Cis (Z)-Isoprenyl Diphosphate Synthases

  3. NM_001319959.2 → NP_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:1 → 155
    Cis_IPPS; Cis (Z)-Isoprenyl Diphosphate Synthases

  4. NM_024887.4 → NP_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/TrEMBL
    A0A8V8TQS0
    Related
    ENSP00000353104.2, ENST00000360009.6
    Conserved Domains (1) summary
    cd00475
    Location:28 → 248
    Cis_IPPS; Cis (Z)-Isoprenyl Diphosphate Synthases

  5. NM_205861.3 → NP_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
    B7Z4B9, B7ZB20, D3DPK7, D3DPK8, D3DPK9, E9KL43, Q5T0A4, Q86SQ9, Q8NE90, Q9BTG5, Q9BTK3, Q9H905
    UniProtKB/TrEMBL
    A0A8V8TQS0
    Related
    ENSP00000236342.7, ENST00000236342.12
    Conserved Domains (1) summary
    cd00475
    Location:28 → 248
    Cis_IPPS; Cis (Z)-Isoprenyl Diphosphate Synthases

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000001.11 Reference GRCh38.p14 Primary Assembly

    Range
    26432321..26471306
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_047430849.1 → XP_047286805.1  dehydrodolichyl diphosphate synthase complex subunit DHDDS isoform X1

  2. XM_047430853.1 → XP_047286809.1  dehydrodolichyl diphosphate synthase complex subunit DHDDS isoform X2

    UniProtKB/Swiss-Prot
    B7Z4B9, B7ZB20, D3DPK7, D3DPK8, D3DPK9, E9KL43, Q5T0A4, Q86SQ9, Q8NE90, Q9BTG5, Q9BTK3, Q9H905

  3. XM_047430859.1 → XP_047286815.1  dehydrodolichyl diphosphate synthase complex subunit DHDDS isoform X3

  4. XM_047430863.1 → XP_047286819.1  dehydrodolichyl diphosphate synthase complex subunit DHDDS isoform X4

  5. XM_047430851.1 → XP_047286807.1  dehydrodolichyl diphosphate synthase complex subunit DHDDS isoform X1

  6. XM_047430856.1 → XP_047286812.1  dehydrodolichyl diphosphate synthase complex subunit DHDDS isoform X2

    UniProtKB/Swiss-Prot
    B7Z4B9, B7ZB20, D3DPK7, D3DPK8, D3DPK9, E9KL43, Q5T0A4, Q86SQ9, Q8NE90, Q9BTG5, Q9BTK3, Q9H905
    Related
    ENSP00000515248.1, ENST00000528557.6

  7. XM_047430850.1 → XP_047286806.1  dehydrodolichyl diphosphate synthase complex subunit DHDDS isoform X1

  8. XM_047430854.1 → XP_047286810.1  dehydrodolichyl diphosphate synthase complex subunit DHDDS isoform X2

    UniProtKB/Swiss-Prot
    B7Z4B9, B7ZB20, D3DPK7, D3DPK8, D3DPK9, E9KL43, Q5T0A4, Q86SQ9, Q8NE90, Q9BTG5, Q9BTK3, Q9H905

  9. XM_047430861.1 → XP_047286817.1  dehydrodolichyl diphosphate synthase complex subunit DHDDS isoform X3

  10. XM_047430864.1 → XP_047286820.1  dehydrodolichyl diphosphate synthase complex subunit DHDDS isoform X4

  11. XM_047430852.1 → XP_047286808.1  dehydrodolichyl diphosphate synthase complex subunit DHDDS isoform X1

  12. XM_047430857.1 → XP_047286813.1  dehydrodolichyl diphosphate synthase complex subunit DHDDS isoform X2

    UniProtKB/Swiss-Prot
    B7Z4B9, B7ZB20, D3DPK7, D3DPK8, D3DPK9, E9KL43, Q5T0A4, Q86SQ9, Q8NE90, Q9BTG5, Q9BTK3, Q9H905

  13. XM_047430862.1 → XP_047286818.1  dehydrodolichyl diphosphate synthase complex subunit DHDDS isoform X3

  14. XM_047430865.1 → XP_047286821.1  dehydrodolichyl diphosphate synthase complex subunit DHDDS isoform X4

  15. XM_047430860.1 → XP_047286816.1  dehydrodolichyl diphosphate synthase complex subunit DHDDS isoform X3

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060925.1 Alternate T2T-CHM13v2.0

    Range
    26270336..26309325
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054338830.1 → XP_054194805.1  dehydrodolichyl diphosphate synthase complex subunit DHDDS isoform X3

  2. XM_054338824.1 → XP_054194799.1  dehydrodolichyl diphosphate synthase complex subunit DHDDS isoform X1

  3. XM_054338828.1 → XP_054194803.1  dehydrodolichyl diphosphate synthase complex subunit DHDDS isoform X2

    UniProtKB/Swiss-Prot
    B7Z4B9, B7ZB20, D3DPK7, D3DPK8, D3DPK9, E9KL43, Q5T0A4, Q86SQ9, Q8NE90, Q9BTG5, Q9BTK3, Q9H905

  4. XM_054338826.1 → XP_054194801.1  dehydrodolichyl diphosphate synthase complex subunit DHDDS isoform X2

    UniProtKB/Swiss-Prot
    B7Z4B9, B7ZB20, D3DPK7, D3DPK8, D3DPK9, E9KL43, Q5T0A4, Q86SQ9, Q8NE90, Q9BTG5, Q9BTK3, Q9H905

  5. XM_054338821.1 → XP_054194796.1  dehydrodolichyl diphosphate synthase complex subunit DHDDS isoform X1

  6. XM_054338823.1 → XP_054194798.1  dehydrodolichyl diphosphate synthase complex subunit DHDDS isoform X1

  7. XM_054338827.1 → XP_054194802.1  dehydrodolichyl diphosphate synthase complex subunit DHDDS isoform X2

    UniProtKB/Swiss-Prot
    B7Z4B9, B7ZB20, D3DPK7, D3DPK8, D3DPK9, E9KL43, Q5T0A4, Q86SQ9, Q8NE90, Q9BTG5, Q9BTK3, Q9H905

  8. XM_054338825.1 → XP_054194800.1  dehydrodolichyl diphosphate synthase complex subunit DHDDS isoform X2

    UniProtKB/Swiss-Prot
    B7Z4B9, B7ZB20, D3DPK7, D3DPK8, D3DPK9, E9KL43, Q5T0A4, Q86SQ9, Q8NE90, Q9BTG5, Q9BTK3, Q9H905

  9. XM_054338833.1 → XP_054194808.1  dehydrodolichyl diphosphate synthase complex subunit DHDDS isoform X4

  10. XM_054338832.1 → XP_054194807.1  dehydrodolichyl diphosphate synthase complex subunit DHDDS isoform X3

  11. XM_054338822.1 → XP_054194797.1  dehydrodolichyl diphosphate synthase complex subunit DHDDS isoform X1

  12. XM_054338831.1 → XP_054194806.1  dehydrodolichyl diphosphate synthase complex subunit DHDDS isoform X3

  13. XM_054338834.1 → XP_054194809.1  dehydrodolichyl diphosphate synthase complex subunit DHDDS isoform X4

  14. XM_054338829.1 → XP_054194804.1  dehydrodolichyl diphosphate synthase complex subunit DHDDS isoform X3

  15. XM_054338835.1 → XP_054194810.1  dehydrodolichyl diphosphate synthase complex subunit DHDDS isoform X4

Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q86SQ9.3 GenPept UniProtKB/Swiss-Prot:Q86SQ9

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