LOCUS       NM_205861               3288 bp    mRNA    linear   PRI 04-OCT-2024
DEFINITION  Homo sapiens dehydrodolichyl diphosphate synthase subunit (DHDDS),
            transcript variant 1, mRNA.
ACCESSION   NM_205861
VERSION     NM_205861.3
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 3288)
  AUTHORS   Jiao,X., Xue,Y., Yang,S., Gong,P., Niu,Y., Wang,Q., Yang,H.,
            Xiong,H., Zhang,Y. and Yang,Z.
  TITLE     Phenotype of heterozygous variants of dehydrodolichol diphosphate
            synthase
  JOURNAL   Dev Med Child Neurol 64 (1), 125-134 (2022)
   PUBMED   34275143
  REMARK    GeneRIF: Phenotype of heterozygous variants of dehydrodolichol
            diphosphate synthase.
REFERENCE   2  (bases 1 to 3288)
  AUTHORS   Huttlin,E.L., Bruckner,R.J., Navarrete-Perea,J., Cannon,J.R.,
            Baltier,K., Gebreab,F., Gygi,M.P., Thornock,A., Zarraga,G., Tam,S.,
            Szpyt,J., Gassaway,B.M., Panov,A., Parzen,H., Fu,S., Golbazi,A.,
            Maenpaa,E., Stricker,K., Guha Thakurta,S., Zhang,T., Rad,R.,
            Pan,J., Nusinow,D.P., Paulo,J.A., Schweppe,D.K., Vaites,L.P.,
            Harper,J.W. and Gygi,S.P.
  TITLE     Dual proteome-scale networks reveal cell-specific remodeling of the
            human interactome
  JOURNAL   Cell 184 (11), 3022-3040 (2021)
   PUBMED   33961781
REFERENCE   3  (bases 1 to 3288)
  AUTHORS   Bar-El,M.L., Vankova,P., Yeheskel,A., Simhaev,L., Engel,H., Man,P.,
            Haitin,Y. and Giladi,M.
  TITLE     Structural basis of heterotetrameric assembly and disease mutations
            in the human cis-prenyltransferase complex
  JOURNAL   Nat Commun 11 (1), 5273 (2020)
   PUBMED   33077723
  REMARK    GeneRIF: Structural basis of heterotetrameric assembly and disease
            mutations in the human cis-prenyltransferase complex.
            Publication Status: Online-Only
REFERENCE   4  (bases 1 to 3288)
  AUTHORS   Edani,B.H., Grabinska,K.A., Zhang,R., Park,E.J., Siciliano,B.,
            Surmacz,L., Ha,Y. and Sessa,W.C.
  TITLE     Structural elucidation of the cis-prenyltransferase NgBR/DHDDS
            complex reveals insights in regulation of protein glycosylation
  JOURNAL   Proc Natl Acad Sci U S A 117 (34), 20794-20802 (2020)
   PUBMED   32817466
  REMARK    GeneRIF: Structural elucidation of the cis-prenyltransferase
            NgBR/DHDDS complex reveals insights in regulation of protein
            glycosylation.
REFERENCE   5  (bases 1 to 3288)
  AUTHORS   Jones,J., Viswanathan,K., Krag,S.S. and Betenbaugh,M.J.
  TITLE     Polyprenyl lipid synthesis in mammalian cells expressing human
            cis-prenyl transferase
  JOURNAL   Biochem Biophys Res Commun 331 (2), 379-383 (2005)
   PUBMED   15850770
  REMARK    GeneRIF: 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
REFERENCE   6  (bases 1 to 3288)
  AUTHORS   Kharel,Y., Takahashi,S., Yamashita,S. and Koyama,T.
  TITLE     In vivo interaction between the human dehydrodolichyl diphosphate
            synthase and the Niemann-Pick C2 protein revealed by a yeast
            two-hybrid system
  JOURNAL   Biochem Biophys Res Commun 318 (1), 198-203 (2004)
   PUBMED   15110773
REFERENCE   7  (bases 1 to 3288)
  AUTHORS   Shridas,P., Rush,J.S. and Waechter,C.J.
  TITLE     Identification and characterization of a cDNA encoding a long-chain
            cis-isoprenyltranferase involved in dolichyl monophosphate
            biosynthesis in the ER of brain cells
  JOURNAL   Biochem Biophys Res Commun 312 (4), 1349-1356 (2003)
   PUBMED   14652022
  REMARK    GeneRIF: identification and characterization; overexpression of CIT
            in CHO cells results in a modest increase in
            cis-isoprenyltransferase activity associated with microsomal
            fractions
REFERENCE   8  (bases 1 to 3288)
  AUTHORS   Endo,S., Zhang,Y.W., Takahashi,S. and Koyama,T.
  TITLE     Identification of human dehydrodolichyl diphosphate synthase gene
  JOURNAL   Biochim Biophys Acta 1625 (3), 291-295 (2003)
   PUBMED   12591616
  REMARK    GeneRIF: identification and amino acid sequence expressed in yeast
REFERENCE   9  (bases 1 to 3288)
  AUTHORS   Fahim,A.T., Daiger,S.P. and Weleber,R.G.
  TITLE     Nonsyndromic Retinitis Pigmentosa Overview
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301590
REFERENCE   10 (bases 1 to 3288)
  AUTHORS   Sparks,S.E. and Krasnewich,D.M.
  TITLE     Congenital Disorders of N-Linked Glycosylation and Multiple Pathway
            Overview
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301507
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from BX648507.1, BC003643.2,
            AB090852.1, AK023164.1 and AW294595.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Nov 23, 2018 this sequence version replaced NM_205861.2.
            
            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].
            
            Transcript Variant: This variant (1) represents the predominant
            transcript, and encodes isoform 1.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR1803614.194.1, SRR1803616.49989.1
                                           [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000236342.12/ ENSP00000236342.7
            RefSeq Select criteria :: based on conservation, expression
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-56                BX648507.1         42-97
            57-867              BC003643.2         1-811
            868-1122            AB090852.1         768-1022
            1123-2186           AK023164.1         1095-2158
            2187-2412           BX648507.1         2251-2476
            2413-2998           AK023164.1         2387-2972
            2999-3244           BX648507.1         3063-3308
            3245-3288           AW294595.1         14-57               c
FEATURES             Location/Qualifiers
     source          1..3288
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /map="1p36.11"
     gene            1..3288
                     /gene="DHDDS"
                     /gene_synonym="CIT; CPT; DEDSM; DS; hCIT; HDS; RP59"
                     /note="dehydrodolichyl diphosphate synthase subunit"
                     /db_xref="GeneID:79947"
                     /db_xref="HGNC:HGNC:20603"
                     /db_xref="MIM:608172"
     exon            1..56
                     /gene="DHDDS"
                     /gene_synonym="CIT; CPT; DEDSM; DS; hCIT; HDS; RP59"
                     /inference="alignment:Splign:2.1.0"
     exon            57..174
                     /gene="DHDDS"
                     /gene_synonym="CIT; CPT; DEDSM; DS; hCIT; HDS; RP59"
                     /inference="alignment:Splign:2.1.0"
     CDS             112..1113
                     /gene="DHDDS"
                     /gene_synonym="CIT; CPT; DEDSM; DS; hCIT; HDS; RP59"
                     /EC_number="2.5.1.87"
                     /note="isoform 1 is encoded by transcript variant 1;
                     cis-prenyl transferase; cis-isoprenyltransferase; dedol-PP
                     synthase; cis-IPTase; epididymis tissue protein Li 189m;
                     dehydrodolichyl diphosphate syntase complex subunit DHDDS;
                     cis-prenyltransferase subunit hCIT; dehydrodolichyl
                     diphosphate synthase complex subunit DHDDS"
                     /codon_start=1
                     /product="dehydrodolichyl diphosphate synthase complex
                     subunit DHDDS isoform 1"
                     /protein_id="NP_995583.1"
                     /db_xref="CCDS:CCDS282.1"
                     /db_xref="GeneID:79947"
                     /db_xref="HGNC:HGNC:20603"
                     /db_xref="MIM:608172"
                     /translation="MSWIKEGELSLWERFCANIIKAGPMPKHIAFIMDGNRRYAKKCQ
                     VERQEGHSQGFNKLAETLRWCLNLGILEVTVYAFSIENFKRSKSEVDGLMDLARQKFS
                     RLMEEKEKLQKHGVCIRVLGDLHLLPLDLQELIAQAVQATKNYNKCFLNVCFAYTSRH
                     EISNAVREMAWGVEQGLLDPSDISESLLDKCLYTNRSPHPDILIRTSGEVRLSDFLLW
                     QTSHSCLVFQPVLWPEYTFWNLFEAILQFQMNHSVLQKARDMYAEERKRQQLERDQAT
                     VTEQLLREGLQASGDAQLRRTRLHKLSARREERVQGFLQALELKRADWLARLGTASA"
     exon            175..291
                     /gene="DHDDS"
                     /gene_synonym="CIT; CPT; DEDSM; DS; hCIT; HDS; RP59"
                     /inference="alignment:Splign:2.1.0"
     exon            292..434
                     /gene="DHDDS"
                     /gene_synonym="CIT; CPT; DEDSM; DS; hCIT; HDS; RP59"
                     /inference="alignment:Splign:2.1.0"
     exon            435..551
                     /gene="DHDDS"
                     /gene_synonym="CIT; CPT; DEDSM; DS; hCIT; HDS; RP59"
                     /inference="alignment:Splign:2.1.0"
     exon            552..653
                     /gene="DHDDS"
                     /gene_synonym="CIT; CPT; DEDSM; DS; hCIT; HDS; RP59"
                     /inference="alignment:Splign:2.1.0"
     exon            654..768
                     /gene="DHDDS"
                     /gene_synonym="CIT; CPT; DEDSM; DS; hCIT; HDS; RP59"
                     /inference="alignment:Splign:2.1.0"
     exon            769..876
                     /gene="DHDDS"
                     /gene_synonym="CIT; CPT; DEDSM; DS; hCIT; HDS; RP59"
                     /inference="alignment:Splign:2.1.0"
     exon            877..3288
                     /gene="DHDDS"
                     /gene_synonym="CIT; CPT; DEDSM; DS; hCIT; HDS; RP59"
                     /inference="alignment:Splign:2.1.0"
     polyA_site      1208
                     /gene="DHDDS"
                     /gene_synonym="CIT; CPT; DEDSM; DS; hCIT; HDS; RP59"
                     /note="major polyA site"
     regulatory      3257..3262
                     /regulatory_class="polyA_signal_sequence"
                     /gene="DHDDS"
                     /gene_synonym="CIT; CPT; DEDSM; DS; hCIT; HDS; RP59"
                     /note="hexamer: AATAGA"
     polyA_site      3288
                     /gene="DHDDS"
                     /gene_synonym="CIT; CPT; DEDSM; DS; hCIT; HDS; RP59"
                     /note="major polyA site"
ORIGIN      
        1 atgaggaagt gccggcccac tgaagccgtg gggacgcgcc cagcggagct aatcagatta
       61 cctggctggt gtttgcttgt tctggagtga tcttctgact ggaaaagaac tatgtcatgg
      121 atcaaggaag gagagctgtc actttgggag cggttctgtg ccaacatcat aaaggcaggc
      181 ccaatgccga aacacattgc attcataatg gacgggaacc gtcgctatgc caagaagtgc
      241 caggtggagc ggcaggaagg ccactcacag ggcttcaaca agctagctga gactctgcgg
      301 tggtgtttga acctgggcat cctagaggtg acagtctacg cattcagcat tgagaacttc
      361 aaacgctcca agagtgaggt agacgggctt atggatctgg cccggcagaa gttcagccgc
      421 ttgatggaag aaaaggagaa actgcagaag catggggtgt gtatccgggt cctgggcgat
      481 ctgcacttgt tgcccttgga tctccaggag ctgattgcac aagctgtaca ggccacgaag
      541 aactacaaca agtgtttcct gaatgtctgt tttgcataca catcccgtca tgagatcagc
      601 aatgctgtga gagagatggc ctggggggtg gagcaaggcc tgttggatcc cagtgatatc
      661 tctgagtctc tgcttgataa gtgcctctat accaaccgct ctcctcatcc tgacatcttg
      721 atacggactt ctggagaagt gcggctgagt gacttcttgc tatggcagac ctctcactcc
      781 tgcctggtgt tccaacccgt tctgtggcca gagtatacat tttggaacct cttcgaggcc
      841 atcctgcagt tccagatgaa ccatagcgtg cttcagaagg cccgagacat gtatgcagag
      901 gagcggaaga ggcagcagct ggagagggac caggctacag tgacagagca gctgctgcga
      961 gaggggctcc aagccagtgg ggacgcccag ctccgaagga cacgcttgca caaactctcg
     1021 gccagacggg aagagcgagt ccaaggcttc ctgcaggcct tggaactcaa gcgagctgac
     1081 tggctggccc gtctgggcac tgcatcagcc tgaatgaggc tggccacctg ccactttgcc
     1141 ctgccctctg cctccagggc tccactcccc ttccttttct tggtgaaagg cacctccttt
     1201 cctgataatg aatggtgttc cctttgcttg gctggggagc cccccaggcc aggtttgctg
     1261 gccatagata cctttgggct gcctgggaca ggctcctgag gaggattgag ggtgaaagtc
     1321 tcccacgagt acactaaacc taggtctggt caccaatagg gtttggagag caaagggcca
     1381 caactcatca gctgcctgtc tcttagatgc actttctttt tccaccagca catccttcaa
     1441 cacacagaat ttcagggaag agttctcccc aaaaccctag ctctttaccc ttccatttta
     1501 gccttccacc cagcttccac aaaagatttg gctctacctt ggatctgcta gtaaataact
     1561 aataggcagg cagttatttg ggtaaggaaa aaaggggtgg gagagacaga aaatttgccc
     1621 atctgctgct cctccccctt ggctctccac ctgggatttg ctattgaatc tctaccctct
     1681 cccaccacac agtactgatt gctcactgaa agactcagca cccccaatgg tgcgcggaag
     1741 ccaggcgggc gattacaatc caattaccta ttgtcgactc agcccacaca agcttttctc
     1801 ctcctcttgc agggcatggg gccaggctcc actcccaaat gagactggcc ccctccatgg
     1861 ttcagggtaa cagaagggcc tgtaggccct ggtgaactga atccagcaca ggcctcccct
     1921 gtaacacaac aggactgagc agaaccaaac acttcttcca actgactctg ctccctgccc
     1981 tcaccatctc aaactctgat tcccactcca ctcttcgagg tttctctcag ctttttgacc
     2041 tggctcccta agtaggccct agatgattta ttcttggcat ggcaaagctt gttctaggtc
     2101 ctctgcttgt gagggtcaaa gctgtgtcct ttcccttacc tccctctgcc aggacttgct
     2161 gcagagctgc tgagaggatt agtgcctttg aagagctgtc tgcctgagca actctatttc
     2221 aggtgcccca caccggcaag taccagccag caacaccaac caaatgctac tctctttaaa
     2281 gtccattttc cttcttcttt tttttttttt ttttggagac agcatctcac cctgtcctgg
     2341 ctggtctcga actcctgacc tcaggtgatc cgccggcctc accctcccaa agtgctggga
     2401 ttacaggcat gagccaccat gccagacttc ccattttact ttctgcaagc tgtttcccta
     2461 gcagctccct ctaggggaga ggtgaaatct tgcaagttgt agcaagagca cacaggaaac
     2521 ccctaacttt cctatacccc acccgcctct tcccctttct gtcccgggat acctggcggc
     2581 aagagacttc ttggctattg tccatgctcc cagaatcaag cataaatgcc agacacggcg
     2641 attgagaagc caatcagtga accctttggc aaagccccca tccacacctg gcactcccct
     2701 ctaccaatcc ctggcacagg gttcctggag agcaggtgct gtacatttta cagctttaca
     2761 atggggctgt tgacagccat aattagggag gcatgaatta tgcggctata atgcagagcc
     2821 ctacaattaa ggcgggaatg aggggctgga ggcagcaaac ggaatctgcc ctatgagcgt
     2881 ggctgttgag tcctgtctcc tgggtctgac tttccgtaat atgattgggg tacagtagag
     2941 gtgattaatg gggctggcat ctctctttgg cctgaggttc tgtattctgg gaaaggtaca
     3001 cagggtggag tagggagaag ctgccccagg aggcgatgta gtggtggaaa gaagaggcag
     3061 agaggtcgtc gtcgtcgccc agcagcaagg gctgcaaaat agtagaactc gtggttgctt
     3121 tggacaggtg tgatttgtgc aagccaggtt caacccttgc ctcaagaaat cagatgggac
     3181 caatttagtg tccttccacc tgtgagccaa gcccccattt gaggacatct atcgtattct
     3241 tgtgtgctgg gtctcaaata gaatttttaa agattcttag atgtaaaa
//
