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

Gene ID: 79947, updated on 27-Dec-2024

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; 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

See DHDDS in Genome Data Viewer
Location:
1p36.11
Exon count:
9
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (26432321..26471306)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (26270336..26309325)
RS_2024_09 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

Expression

  • Project title: Tissue-specific circular RNA induction during human fetal development
  • Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
  • BioProject: PRJNA270632
  • Publication: PMID 26076956
  • Analysis date: Mon Apr 2 22:54:59 2018

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Clone Names

  • FLJ13102

Gene Ontology Provided by GOA

Function Evidence Code Pubs
contributes_to dehydrodolichyl diphosphate synthase activity IBA
Inferred from Biological aspect of Ancestor
more info
 
contributes_to dehydrodolichyl diphosphate synthase activity IDA
Inferred from Direct Assay
more info
PubMed 
enables 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 dolichol biosynthetic process IDA
Inferred from Direct Assay
more info
PubMed 
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
 
is_active_in endoplasmic reticulum membrane IDA
Inferred from Direct Assay
more info
PubMed 
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

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)

NEW Try the new Transcript table

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_001243564.2NP_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:28214
    Cis_IPPS; Cis (Z)-Isoprenyl Diphosphate Synthases
  2. NM_001243565.2NP_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:28209
    Cis_IPPS; Cis (Z)-Isoprenyl Diphosphate Synthases
  3. NM_001319959.2NP_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_024887.4NP_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:28248
    Cis_IPPS; Cis (Z)-Isoprenyl Diphosphate Synthases
  5. NM_205861.3NP_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:28248
    Cis_IPPS; Cis (Z)-Isoprenyl Diphosphate Synthases

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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_047430849.1XP_047286805.1  dehydrodolichyl diphosphate synthase complex subunit DHDDS isoform X1

    UniProtKB/TrEMBL
    A0A8V8TQS0
  2. XM_047430853.1XP_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
    UniProtKB/TrEMBL
    A0A8V8TQS0
  3. XM_047430859.1XP_047286815.1  dehydrodolichyl diphosphate synthase complex subunit DHDDS isoform X3

    UniProtKB/TrEMBL
    A0A8V8TR89
  4. XM_047430863.1XP_047286819.1  dehydrodolichyl diphosphate synthase complex subunit DHDDS isoform X4

    UniProtKB/TrEMBL
    A0A8V8TR89
  5. XM_047430851.1XP_047286807.1  dehydrodolichyl diphosphate synthase complex subunit DHDDS isoform X1

    UniProtKB/TrEMBL
    A0A8V8TQS0
  6. XM_047430856.1XP_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
    UniProtKB/TrEMBL
    A0A8V8TQS0
    Related
    ENSP00000515248.1, ENST00000528557.6
  7. XM_047430850.1XP_047286806.1  dehydrodolichyl diphosphate synthase complex subunit DHDDS isoform X1

    UniProtKB/TrEMBL
    A0A8V8TQS0
  8. XM_047430854.1XP_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
    UniProtKB/TrEMBL
    A0A8V8TQS0
  9. XM_047430861.1XP_047286817.1  dehydrodolichyl diphosphate synthase complex subunit DHDDS isoform X3

    UniProtKB/TrEMBL
    A0A8V8TR89
  10. XM_047430864.1XP_047286820.1  dehydrodolichyl diphosphate synthase complex subunit DHDDS isoform X4

    UniProtKB/TrEMBL
    A0A8V8TR89
  11. XM_047430852.1XP_047286808.1  dehydrodolichyl diphosphate synthase complex subunit DHDDS isoform X1

    UniProtKB/TrEMBL
    A0A8V8TQS0
  12. XM_047430857.1XP_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
    UniProtKB/TrEMBL
    A0A8V8TQS0
  13. XM_047430862.1XP_047286818.1  dehydrodolichyl diphosphate synthase complex subunit DHDDS isoform X3

    UniProtKB/TrEMBL
    A0A8V8TR89
  14. XM_047430865.1XP_047286821.1  dehydrodolichyl diphosphate synthase complex subunit DHDDS isoform X4

    UniProtKB/TrEMBL
    A0A8V8TR89
  15. XM_047430860.1XP_047286816.1  dehydrodolichyl diphosphate synthase complex subunit DHDDS isoform X3

    UniProtKB/TrEMBL
    A0A8V8TR89

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_054338830.1XP_054194805.1  dehydrodolichyl diphosphate synthase complex subunit DHDDS isoform X3

    UniProtKB/TrEMBL
    A0A8V8TR89
  2. XM_054338824.1XP_054194799.1  dehydrodolichyl diphosphate synthase complex subunit DHDDS isoform X1

    UniProtKB/TrEMBL
    A0A8V8TQS0
  3. XM_054338828.1XP_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
    UniProtKB/TrEMBL
    A0A8V8TQS0
  4. XM_054338826.1XP_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
    UniProtKB/TrEMBL
    A0A8V8TQS0
  5. XM_054338821.1XP_054194796.1  dehydrodolichyl diphosphate synthase complex subunit DHDDS isoform X1

    UniProtKB/TrEMBL
    A0A8V8TQS0
  6. XM_054338823.1XP_054194798.1  dehydrodolichyl diphosphate synthase complex subunit DHDDS isoform X1

    UniProtKB/TrEMBL
    A0A8V8TQS0
  7. XM_054338827.1XP_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
    UniProtKB/TrEMBL
    A0A8V8TQS0
  8. XM_054338825.1XP_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
    UniProtKB/TrEMBL
    A0A8V8TQS0
  9. XM_054338833.1XP_054194808.1  dehydrodolichyl diphosphate synthase complex subunit DHDDS isoform X4

    UniProtKB/TrEMBL
    A0A8V8TR89
  10. XM_054338832.1XP_054194807.1  dehydrodolichyl diphosphate synthase complex subunit DHDDS isoform X3

    UniProtKB/TrEMBL
    A0A8V8TR89
  11. XM_054338822.1XP_054194797.1  dehydrodolichyl diphosphate synthase complex subunit DHDDS isoform X1

    UniProtKB/TrEMBL
    A0A8V8TQS0
  12. XM_054338831.1XP_054194806.1  dehydrodolichyl diphosphate synthase complex subunit DHDDS isoform X3

    UniProtKB/TrEMBL
    A0A8V8TR89
  13. XM_054338834.1XP_054194809.1  dehydrodolichyl diphosphate synthase complex subunit DHDDS isoform X4

    UniProtKB/TrEMBL
    A0A8V8TR89
  14. XM_054338829.1XP_054194804.1  dehydrodolichyl diphosphate synthase complex subunit DHDDS isoform X3

    UniProtKB/TrEMBL
    A0A8V8TR89
  15. XM_054338835.1XP_054194810.1  dehydrodolichyl diphosphate synthase complex subunit DHDDS isoform X4

    UniProtKB/TrEMBL
    A0A8V8TR89