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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
    mouse all
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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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