LOCUS       NM_004508               2739 bp    mRNA    linear   PRI 21-SEP-2024
DEFINITION  Homo sapiens isopentenyl-diphosphate delta isomerase 1 (IDI1),
            transcript variant 1, mRNA.
ACCESSION   NM_004508
VERSION     NM_004508.4
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 2739)
  AUTHORS   Luck,K., Kim,D.K., Lambourne,L., Spirohn,K., Begg,B.E., Bian,W.,
            Brignall,R., Cafarelli,T., Campos-Laborie,F.J., Charloteaux,B.,
            Choi,D., Cote,A.G., Daley,M., Deimling,S., Desbuleux,A., Dricot,A.,
            Gebbia,M., Hardy,M.F., Kishore,N., Knapp,J.J., Kovacs,I.A.,
            Lemmens,I., Mee,M.W., Mellor,J.C., Pollis,C., Pons,C.,
            Richardson,A.D., Schlabach,S., Teeking,B., Yadav,A., Babor,M.,
            Balcha,D., Basha,O., Bowman-Colin,C., Chin,S.F., Choi,S.G.,
            Colabella,C., Coppin,G., D'Amata,C., De Ridder,D., De Rouck,S.,
            Duran-Frigola,M., Ennajdaoui,H., Goebels,F., Goehring,L., Gopal,A.,
            Haddad,G., Hatchi,E., Helmy,M., Jacob,Y., Kassa,Y., Landini,S.,
            Li,R., van Lieshout,N., MacWilliams,A., Markey,D., Paulson,J.N.,
            Rangarajan,S., Rasla,J., Rayhan,A., Rolland,T., San-Miguel,A.,
            Shen,Y., Sheykhkarimli,D., Sheynkman,G.M., Simonovsky,E., Tasan,M.,
            Tejeda,A., Tropepe,V., Twizere,J.C., Wang,Y., Weatheritt,R.J.,
            Weile,J., Xia,Y., Yang,X., Yeger-Lotem,E., Zhong,Q., Aloy,P.,
            Bader,G.D., De Las Rivas,J., Gaudet,S., Hao,T., Rak,J.,
            Tavernier,J., Hill,D.E., Vidal,M., Roth,F.P. and Calderwood,M.A.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   2  (bases 1 to 2739)
  AUTHORS   Fang,C.Y., Chen,M.C., Chang,T.H., Wu,C.C., Chang,J.P., Huang,H.D.,
            Ho,W.C., Wang,Y.Z., Pan,K.L., Lin,Y.S., Huang,Y.K., Chen,C.J. and
            Lee,W.C.
  TITLE     Idi1 and Hmgcs2 Are Affected by Stretch in HL-1 Atrial Myocytes
  JOURNAL   Int J Mol Sci 19 (12), 4094 (2018)
   PUBMED   30567295
  REMARK    GeneRIF: Canonical pathway analysis, using Ingenuity Pathway
            Analysis software, revealed that the only genes in the
            'superpathway of cholesterol biosynthesis' were Idi1 (upregulated)
            and Hmgcs2 (downregulated).  The Idi1 and Hmgcs2 genes have
            regulatory roles in atrial lipotoxic myopathy associated with
            atrial enlargement
            Publication Status: Online-Only
REFERENCE   3  (bases 1 to 2739)
  AUTHORS   Nakamura,K., Mori,F., Tanji,K., Miki,Y., Yamada,M., Kakita,A.,
            Takahashi,H., Utsumi,J., Sasaki,H. and Wakabayashi,K.
  TITLE     Isopentenyl diphosphate isomerase, a cholesterol synthesizing
            enzyme, is localized in Lewy bodies
  JOURNAL   Neuropathology 35 (5), 432-440 (2015)
   PUBMED   25950736
  REMARK    GeneRIF: The present findings suggest that IDI1 and IDI2 may be
            associated with the production of cholesterol metabolites in
            neurons, leading to alpha-synuclein aggregation during the process
            of Lewy body formation.
REFERENCE   4  (bases 1 to 2739)
  AUTHORS   Kato,T., Emi,M., Sato,H., Arawaka,S., Wada,M., Kawanami,T.,
            Katagiri,T., Tsuburaya,K., Toyoshima,I., Tanaka,F., Sobue,G. and
            Matsubara,K.
  TITLE     Segmental copy-number gain within the region of isopentenyl
            diphosphate isomerase genes in sporadic amyotrophic lateral
            sclerosis
  JOURNAL   Biochem Biophys Res Commun 402 (2), 438-442 (2010)
   PUBMED   20955688
  REMARK    GeneRIF: Within the 40-kb region on 10p15.3 subtelomere, which
            harbours two genes encoding isopentenyl diphosphate isomerase 1
            (IDI1) and IDI2, there was found a segmental copy-number gain in a
            large proportion of sporadic amyotrophic lateral sclerosis
            patients.
REFERENCE   5  (bases 1 to 2739)
  AUTHORS   Hendrickson,S.L., Lautenberger,J.A., Chinn,L.W., Malasky,M.,
            Sezgin,E., Kingsley,L.A., Goedert,J.J., Kirk,G.D., Gomperts,E.D.,
            Buchbinder,S.P., Troyer,J.L. and O'Brien,S.J.
  TITLE     Genetic variants in nuclear-encoded mitochondrial genes influence
            AIDS progression
  JOURNAL   PLoS One 5 (9), e12862 (2010)
   PUBMED   20877624
  REMARK    GeneRIF: Observational study of gene-disease association. (HuGE
            Navigator)
            Publication Status: Online-Only
REFERENCE   6  (bases 1 to 2739)
  AUTHORS   Breitling,R., Laubner,D., Clizbe,D., Adamski,J. and Krisans,S.K.
  TITLE     Isopentenyl-diphosphate isomerases in human and mouse: evolutionary
            analysis of a mammalian gene duplication
  JOURNAL   J Mol Evol 57 (3), 282-291 (2003)
   PUBMED   14629038
  REMARK    GeneRIF: only one of the two isoforms (IDI1) is highly conserved,
            ubiquitously expressed and most likely responsible for housekeeping
            isomerase activity
REFERENCE   7  (bases 1 to 2739)
  AUTHORS   Svensson,P.A., Englund,M.C., Markstrom,E., Ohlsson,B.G., Jernas,M.,
            Billig,H., Torgerson,J.S., Wiklund,O., Carlsson,L.M. and
            Carlsson,B.
  TITLE     Copper induces the expression of cholesterogenic genes in human
            macrophages
  JOURNAL   Atherosclerosis 169 (1), 71-76 (2003)
   PUBMED   12860252
REFERENCE   8  (bases 1 to 2739)
  AUTHORS   Hahn,F.M., Xuan,J.W., Chambers,A.F. and Poulter,C.D.
  TITLE     Human isopentenyl diphosphate: dimethylallyl diphosphate isomerase:
            overproduction, purification, and characterization
  JOURNAL   Arch Biochem Biophys 332 (1), 30-34 (1996)
   PUBMED   8806705
REFERENCE   9  (bases 1 to 2739)
  AUTHORS   Krisans,S.K., Ericsson,J., Edwards,P.A. and Keller,G.A.
  TITLE     Farnesyl-diphosphate synthase is localized in peroxisomes
  JOURNAL   J Biol Chem 269 (19), 14165-14169 (1994)
   PUBMED   8188698
REFERENCE   10 (bases 1 to 2739)
  AUTHORS   Xuan,J.W., Kowalski,J., Chambers,A.F. and Denhardt,D.T.
  TITLE     A human promyelocyte mRNA transiently induced by TPA is homologous
            to yeast IPP isomerase
  JOURNAL   Genomics 20 (1), 129-131 (1994)
   PUBMED   8020941
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AC022536.13.
            
            On Jun 27, 2020 this sequence version replaced NM_004508.3.
            
            Summary: IDI1 encodes a peroxisomally-localized enzyme that
            catalyzes the interconversion of isopentenyl diphosphate (IPP) to
            its highly electrophilic isomer, dimethylallyl diphosphate (DMAPP),
            which are the substrates for the successive reaction that results
            in the synthesis of farnesyl diphosphate and, ultimately,
            cholesterol.  It has been shown in peroxisomal deficiency diseases
            such as Zellweger syndrome and neonatal adrenoleukodystrophy that
            there is reduction in IPP isomerase activity. [provided by RefSeq,
            Jul 2008].
            
            Transcript Variant: This variant (1) encodes the longest isoform
            (a).
            
            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 :: BC107893.1, SRR18074967.939538.1
                                           [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA2162568, SAMN03267770
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000381344.8/ ENSP00000370748.3
            RefSeq Select criteria :: based on manual assertion, conservation,
                                      expression, longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-256               AC022536.13        74543-74798
            257-429             AC022536.13        79491-79663
            430-522             AC022536.13        80269-80361
            523-653             AC022536.13        80900-81030
            654-2739            AC022536.13        82158-84243
FEATURES             Location/Qualifiers
     source          1..2739
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="10"
                     /map="10p15.3"
     gene            1..2739
                     /gene="IDI1"
                     /gene_synonym="IPP1; IPPI1"
                     /note="isopentenyl-diphosphate delta isomerase 1"
                     /db_xref="GeneID:3422"
                     /db_xref="HGNC:HGNC:5387"
                     /db_xref="MIM:604055"
     exon            1..256
                     /gene="IDI1"
                     /gene_synonym="IPP1; IPPI1"
                     /inference="alignment:Splign:2.1.0"
     CDS             117..971
                     /gene="IDI1"
                     /gene_synonym="IPP1; IPPI1"
                     /EC_number="5.3.3.2"
                     /note="isoform a is encoded by transcript variant 1;
                     isopentenyl-diphosphate Delta-isomerase 1; isopentenyl
                     pyrophosphate isomerase 1; isopentenyl diphosphate
                     dimethylallyl diphosphate isomerase 1; IPP isomerase 1"
                     /codon_start=1
                     /product="isopentenyl-diphosphate Delta-isomerase 1
                     isoform a"
                     /protein_id="NP_004499.2"
                     /db_xref="CCDS:CCDS7056.1"
                     /db_xref="GeneID:3422"
                     /db_xref="HGNC:HGNC:5387"
                     /db_xref="MIM:604055"
                     /translation="MWRGLALARAIGCAARGRGQWAVRAADCAQSGRHPGPAVVCGRR
                     LISVLEQIRHFVMMPEINTNHLDKQQVQLLAEMCILIDENDNKIGAETKKNCHLNENI
                     EKGLLHRAFSVFLFNTENKLLLQQRSDAKITFPGCFTNTCCSHPLSNPAELEESDALG
                     VRRAAQRRLKAELGIPLEEVPPEEINYLTRIHYKAQSDGIWGEHEIDYILLVRKNVTL
                     NPDPNEIKSYCYVSKEELKELLKKAASGEIKITPWFKIIAATFLFKWWDNLNHLNQFV
                     DHEKIYRM"
     exon            257..429
                     /gene="IDI1"
                     /gene_synonym="IPP1; IPPI1"
                     /inference="alignment:Splign:2.1.0"
     exon            430..522
                     /gene="IDI1"
                     /gene_synonym="IPP1; IPPI1"
                     /inference="alignment:Splign:2.1.0"
     exon            523..653
                     /gene="IDI1"
                     /gene_synonym="IPP1; IPPI1"
                     /inference="alignment:Splign:2.1.0"
     exon            654..2739
                     /gene="IDI1"
                     /gene_synonym="IPP1; IPPI1"
                     /inference="alignment:Splign:2.1.0"
     regulatory      2107..2112
                     /regulatory_class="polyA_signal_sequence"
                     /gene="IDI1"
                     /gene_synonym="IPP1; IPPI1"
                     /note="hexamer: AATAAA"
     polyA_site      2135
                     /gene="IDI1"
                     /gene_synonym="IPP1; IPPI1"
                     /note="major polyA site"
     regulatory      2229..2234
                     /regulatory_class="polyA_signal_sequence"
                     /gene="IDI1"
                     /gene_synonym="IPP1; IPPI1"
                     /note="hexamer: AGTAAA"
     polyA_site      2250
                     /gene="IDI1"
                     /gene_synonym="IPP1; IPPI1"
     regulatory      2712..2717
                     /regulatory_class="polyA_signal_sequence"
                     /gene="IDI1"
                     /gene_synonym="IPP1; IPPI1"
                     /note="hexamer: AATATA"
     polyA_site      2739
                     /gene="IDI1"
                     /gene_synonym="IPP1; IPPI1"
ORIGIN      
        1 caggttcccg gtgcttcgcg cgtctgccgt tgtcacaggc cagggaggtg gcaccaccag
       61 gcgaagcttg gcgagattgt gtcgtcaagc gcgtacgggc gccaattggc cgggcgatgt
      121 ggcgtggact ggcgctggcg cgagcgattg gctgcgcggc ccgggggcgg ggccagtggg
      181 cggtgcgcgc cgcagactgt gctcaaagcg ggcgccatcc gggaccggcg gttgtctgtg
      241 gccggaggct gatcagtgtt ctagaacaga tcagacattt tgtaatgatg cctgaaataa
      301 acactaacca cctcgacaag caacaggttc aactcctggc agagatgtgt atccttattg
      361 atgaaaatga caataaaatt ggagctgaga ccaagaagaa ttgtcacctg aacgagaaca
      421 ttgagaaagg attattgcat cgagctttta gtgtcttctt attcaacacc gaaaataagc
      481 ttctgctaca gcaaagatca gatgctaaga ttacctttcc aggttgtttt acgaatacgt
      541 gttgtagtca tccattaagc aatccagccg agcttgagga aagtgacgcc cttggagtga
      601 ggcgagcagc acagagacgg ctgaaagctg agctaggaat tcccttggaa gaggttcctc
      661 cagaagaaat taattattta acacgaattc actacaaagc tcagtctgat ggtatctggg
      721 gtgaacatga aattgattac attttgttgg tgaggaagaa tgtaactttg aatccagatc
      781 ccaatgagat taaaagctat tgttatgtgt caaaggaaga actaaaagaa cttctgaaaa
      841 aagcagccag tggtgaaatt aagataacgc catggtttaa aattattgca gcgacttttc
      901 tctttaaatg gtgggataac ttaaatcatt tgaatcagtt tgttgaccat gagaaaatat
      961 acagaatgtg aatatgtagg taaatgatta cagaaaaatt tatctgctta acaaacttag
     1021 aatgactttt tccttttaaa tttagttcta tcattaattt atcattaaat ttagttctat
     1081 catttggtac tatcattaat gtattatata cactgatact ttaaaacttg tgtggaaaaa
     1141 actaacttat aattttgtat cacacaccct ggatatgtgt tctgtttcta agcgacattt
     1201 gtgagagatt attgtaaaat gagagcgagc aaataaaact taatttaatc tttgcagata
     1261 catacttatg ggaaatttga acaaatgagt gaaactctgt ttttagtagg ctgtgataaa
     1321 catttccgga gcacttgcag aggacttgct atttgccagg tgctttatgt atcattaaat
     1381 ttttctcata gttcagaaaa atgtgcaaag gaaactattg tctcgctcct tcaaaacagt
     1441 cttaattaac tttcatatta gcagattaaa ctagcagagc aggttcaagg gaaattaaat
     1501 gatatggacc ctaatttgta tcattctgag ttgattgtgt ggtttattca ttctggaaac
     1561 atgttgatac ttacagtcag ccactgcttt tgataagtga tattgattag gttgaatctt
     1621 cttgtaaata gtatttacca gttagcaaag tctgtgtttt cagaattaca gtgagcacag
     1681 aggtgttcat aaaatgggaa ttgagtccca ctcggtaaga gttgcttaaa cttgacactg
     1741 ttgacatttg ggctggataa aacccctgtg gtggggtctg tgctgtgcat tgcaggatgg
     1801 tgagcagcgt ccctctcatg tgacacccac agttatgccg gatgttgcca gatgccccta
     1861 ggggacagag tcaaccccca actgaggacc actgtcctac agagtcagga aatattgtag
     1921 ggagaaaaaa ataacaacaa caaaggcctg tgttaatgtt aaatagatga gattatggaa
     1981 tgtgtatatt aatgttaaaa attgtacctt gatcaatgta ctttttataa acttgccata
     2041 gatatctcag atttgaaacc tcaagacaga tttattattc ttaaatgctg tatgataatg
     2101 aagaaaaata aaaatttatt tcttgcaaag ttaaatgttt gttaaattca atagaatgac
     2161 tcatttatgg ttaactttgg gcaatttata atttcagaca agactgttta gcaagtattt
     2221 tattgaaaag taaaaaaaat tgcaatttaa tactgtgttt agtttgttaa aattttgata
     2281 cactaatagg atattgcctg tatagtttcc gttgcattta taatattgtt tctaattttt
     2341 ttagttttat tttctaggaa gttttaggct gaaagccaca tataattagt tatgtgataa
     2401 ctatgagttg ccatggctac tgaattggac atgggaccct tagactgcta cccagcacct
     2461 tgttaagtac ttagcaagag ttagatacta ctgttgtaat attactagga tgccatccag
     2521 aaaatgtaag gaatgtcttt tgacctgata aactccttag aactccttca tcttttataa
     2581 agaggagtat ccctctccta gatatagctg cttctgaccc caaaggcaga tgtgttggtt
     2641 ttcaactaga aagctaaatg gtacctataa attttttttt tcttaaactg ttttaaactc
     2701 ttaatcttca aaatatatac ttctttgatt ctggtcaaa
//
