LOCUS       NM_005896               2318 bp    mRNA    linear   PRI 05-DEC-2024
DEFINITION  Homo sapiens isocitrate dehydrogenase (NADP(+)) 1 (IDH1),
            transcript variant 1, mRNA.
ACCESSION   NM_005896
VERSION     NM_005896.4
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 2318)
  AUTHORS   Broome,J.A., Nguyen,N.P., Baumung,C.R.E., Chen,V.C. and
            Bushnell,E.A.C.
  TITLE     Gaining Insight into the Catalytic Mechanism of the R132H IDH1
            Mutant: A Synergistic DFT Cluster and Experimental Investigation
  JOURNAL   Biochemistry 63 (20), 2682-2691 (2024)
   PUBMED   39318042
  REMARK    GeneRIF: Gaining Insight into the Catalytic Mechanism of the R132H
            IDH1 Mutant: A Synergistic DFT Cluster and Experimental
            Investigation.
REFERENCE   2  (bases 1 to 2318)
  AUTHORS   Xu,S., Cao,L., Chen,R., Ye,C., Li,Q., Jiang,Q., Yan,F., Wan,M.,
            Zhang,X. and Ruan,J.
  TITLE     Differential isocitrate dehydrogenase 1 and isocitrate
            dehydrogenase 2 mutation-related landscape in intrahepatic
            cholangiocarcinoma
  JOURNAL   Oncologist 29 (8), e1061-e1072 (2024)
   PUBMED   38842680
  REMARK    GeneRIF: Differential isocitrate dehydrogenase 1 and isocitrate
            dehydrogenase 2 mutation-related landscape in intrahepatic
            cholangiocarcinoma.
REFERENCE   3  (bases 1 to 2318)
  AUTHORS   Wu,M.J., Kondo,H., Kammula,A.V., Shi,L., Xiao,Y., Dhiab,S., Xu,Q.,
            Slater,C.J., Avila,O.I., Merritt,J., Kato,H., Kattel,P.,
            Sussman,J., Gritti,I., Eccleston,J., Sun,Y., Cho,H.M., Olander,K.,
            Katsuda,T., Shi,D.D., Savani,M.R., Smith,B.C., Cleary,J.M.,
            Mostoslavsky,R., Vijay,V., Kitagawa,Y., Wakimoto,H., Jenkins,R.W.,
            Yates,K.B., Paik,J., Tassinari,A., Saatcioglu,D.H., Tron,A.E.,
            Haas,W., Cahill,D., McBrayer,S.K., Manguso,R.T. and Bardeesy,N.
  TITLE     Mutant IDH1 inhibition induces dsDNA sensing to activate tumor
            immunity
  JOURNAL   Science 385 (6705), eadl6173 (2024)
   PUBMED   38991060
  REMARK    GeneRIF: Mutant IDH1 inhibition induces dsDNA sensing to activate
            tumor immunity.
REFERENCE   4  (bases 1 to 2318)
  AUTHORS   Kurdi,M., Alkhotani,A., Sabbagh,A., Faizo,E., Lary,A.I.,
            Bamaga,A.K., Almansouri,M., Hafiz,B., Alsharif,T. and Baeesa,S.
  TITLE     The interplay mechanism between IDH mutation, MGMT-promoter
            methylation, and PRMT5 activity in the progression of grade 4
            astrocytoma: unraveling the complex triad theory
  JOURNAL   Oncol Res 32 (6), 1037-1045 (2024)
   PUBMED   38827324
  REMARK    GeneRIF: The interplay mechanism between IDH mutation,
            MGMT-promoter methylation, and PRMT5 activity in the progression of
            grade 4 astrocytoma: unraveling the complex triad theory.
            Publication Status: Online-Only
REFERENCE   5  (bases 1 to 2318)
  AUTHORS   Zhao,H., Meng,L., Du,P., Liao,X., Mo,X., Gong,M., Chen,J. and
            Liao,Y.
  TITLE     IDH1 mutation produces R-2-hydroxyglutarate (R-2HG) and induces
            mir-182-5p expression to regulate cell cycle and tumor formation in
            glioma
  JOURNAL   Biol Res 57 (1), 30 (2024)
   PUBMED   38760850
  REMARK    GeneRIF: IDH1 mutation produces R-2-hydroxyglutarate (R-2HG) and
            induces mir-182-5p expression to regulate cell cycle and tumor
            formation in glioma.
            Publication Status: Online-Only
REFERENCE   6  (bases 1 to 2318)
  AUTHORS   Nekrutenko,A., Hillis,D.M., Patton,J.C., Bradley,R.D. and
            Baker,R.J.
  TITLE     Cytosolic isocitrate dehydrogenase in humans, mice, and voles and
            phylogenetic analysis of the enzyme family
  JOURNAL   Mol Biol Evol 15 (12), 1674-1684 (1998)
   PUBMED   9866202
REFERENCE   7  (bases 1 to 2318)
  AUTHORS   Belfiore,F. and Iannello,S.
  TITLE     Fatty acid synthesis from glutamate in the adipose tissue of normal
            subjects and obese patients: an enzyme study
  JOURNAL   Biochem Mol Med 54 (1), 19-25 (1995)
   PUBMED   7551812
REFERENCE   8  (bases 1 to 2318)
  AUTHORS   Narahara,K., Kimura,S., Kikkawa,K., Takahashi,Y., Wakita,Y.,
            Kasai,R., Nagai,S., Nishibayashi,Y. and Kimoto,H.
  TITLE     Probable assignment of soluble isocitrate dehydrogenase (IDH1) to
            2q33.3
  JOURNAL   Hum Genet 71 (1), 37-40 (1985)
   PUBMED   3861566
REFERENCE   9  (bases 1 to 2318)
  AUTHORS   Creagan,R.P., Carritt,B., Chen,S., Kucherlapati,R., McMorris,F.A.,
            Ricciuti,F., Tan,Y.H., Tischfield,J.A. and Ruddle,F.H.
  TITLE     Chromosome assignments of genes in man using mouse-human somatic
            cell hybrids: Cytoplasmic isocitrate dehydrogenase (IDH 1) and
            malate dehydrogenase (MDH 1) to chromosomes 2
  JOURNAL   Am J Hum Genet 26 (5), 604-613 (1974)
   PUBMED   4422176
REFERENCE   10 (bases 1 to 2318)
  AUTHORS   Henderson,N.S.
  TITLE     Intracellular location and genetic control of isozymes of
            NADP-dependent isocitrate dehydrogenase and malate dehydrogenase
  JOURNAL   Ann N Y Acad Sci 151 (1), 429-440 (1968)
   PUBMED   4388365
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from DA728868.1, BC021046.1 and
            AC016697.8.
            
            On Feb 25, 2020 this sequence version replaced NM_005896.3.
            
            Summary: Isocitrate dehydrogenases catalyze the oxidative
            decarboxylation of isocitrate to 2-oxoglutarate. These enzymes
            belong to two distinct subclasses, one of which utilizes NAD(+) as
            the electron acceptor and the other NADP(+). Five isocitrate
            dehydrogenases have been reported: three NAD(+)-dependent
            isocitrate dehydrogenases, which localize to the mitochondrial
            matrix, and two NADP(+)-dependent isocitrate dehydrogenases, one of
            which is mitochondrial and the other predominantly cytosolic. Each
            NADP(+)-dependent isozyme is a homodimer. The protein encoded by
            this gene is the NADP(+)-dependent isocitrate dehydrogenase found
            in the cytoplasm and peroxisomes. It contains the PTS-1 peroxisomal
            targeting signal sequence. The presence of this enzyme in
            peroxisomes suggests roles in the regeneration of NADPH for
            intraperoxisomal reductions, such as the conversion of 2,
            4-dienoyl-CoAs to 3-enoyl-CoAs, as well as in peroxisomal reactions
            that consume 2-oxoglutarate, namely the alpha-hydroxylation of
            phytanic acid. The cytoplasmic enzyme serves a significant role in
            cytoplasmic NADPH production. Alternatively spliced transcript
            variants encoding the same protein have been found for this gene.
            [provided by RefSeq, Sep 2013].
            
            Transcript Variant: This variant (1) and variants 2 and 3 encode
            the same protein.
            
            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 :: BC093020.1, AL136702.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000345146.7/ ENSP00000260985.2
            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
            1-31                DA728868.1         73-103
            32-1959             BC021046.1         1-1928
            1960-1960           AC016697.8         94520-94520         c
            1961-2318           BC021046.1         1930-2287
FEATURES             Location/Qualifiers
     source          1..2318
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="2"
                     /map="2q34"
     gene            1..2318
                     /gene="IDH1"
                     /gene_synonym="HEL-216; HEL-S-26; IDCD; IDH; IDP; IDPC;
                     PICD"
                     /note="isocitrate dehydrogenase (NADP(+)) 1"
                     /db_xref="GeneID:3417"
                     /db_xref="HGNC:HGNC:5382"
                     /db_xref="MIM:147700"
     exon            1..133
                     /gene="IDH1"
                     /gene_synonym="HEL-216; HEL-S-26; IDCD; IDH; IDP; IDPC;
                     PICD"
                     /inference="alignment:Splign:2.1.0"
     exon            134..207
                     /gene="IDH1"
                     /gene_synonym="HEL-216; HEL-S-26; IDCD; IDH; IDP; IDPC;
                     PICD"
                     /inference="alignment:Splign:2.1.0"
     exon            208..345
                     /gene="IDH1"
                     /gene_synonym="HEL-216; HEL-S-26; IDCD; IDH; IDP; IDPC;
                     PICD"
                     /inference="alignment:Splign:2.1.0"
     CDS             224..1468
                     /gene="IDH1"
                     /gene_synonym="HEL-216; HEL-S-26; IDCD; IDH; IDP; IDPC;
                     PICD"
                     /EC_number="1.1.1.42"
                     /note="oxalosuccinate decarboxylase; NADP-dependent
                     isocitrate dehydrogenase, cytosolic; NADP-dependent
                     isocitrate dehydrogenase, peroxisomal; epididymis
                     secretory protein Li 26; epididymis luminal protein 216;
                     isocitrate dehydrogenase (NADP(+)) 1, cytosolic;
                     NADP(+)-specific ICDH; isocitrate dehydrogenase 1 (NADP+),
                     soluble; epididymis secretory sperm binding protein"
                     /codon_start=1
                     /product="isocitrate dehydrogenase [NADP] cytoplasmic"
                     /protein_id="NP_005887.2"
                     /db_xref="CCDS:CCDS2381.1"
                     /db_xref="GeneID:3417"
                     /db_xref="HGNC:HGNC:5382"
                     /db_xref="MIM:147700"
                     /translation="MSKKISGGSVVEMQGDEMTRIIWELIKEKLIFPYVELDLHSYDL
                     GIENRDATNDQVTKDAAEAIKKHNVGVKCATITPDEKRVEEFKLKQMWKSPNGTIRNI
                     LGGTVFREAIICKNIPRLVSGWVKPIIIGRHAYGDQYRATDFVVPGPGKVEITYTPSD
                     GTQKVTYLVHNFEEGGGVAMGMYNQDKSIEDFAHSSFQMALSKGWPLYLSTKNTILKK
                     YDGRFKDIFQEIYDKQYKSQFEAQKIWYEHRLIDDMVAQAMKSEGGFIWACKNYDGDV
                     QSDSVAQGYGSLGMMTSVLVCPDGKTVEAEAAHGTVTRHYRMYQKGQETSTNPIASIF
                     AWTRGLAHRAKLDNNKELAFFANALEEVSIETIEAGFMTKDLAACIKGLPNVQRSDYL
                     NTFEFMDKLGENLKIKLAQAKL"
     exon            346..637
                     /gene="IDH1"
                     /gene_synonym="HEL-216; HEL-S-26; IDCD; IDH; IDP; IDPC;
                     PICD"
                     /inference="alignment:Splign:2.1.0"
     exon            638..743
                     /gene="IDH1"
                     /gene_synonym="HEL-216; HEL-S-26; IDCD; IDH; IDP; IDPC;
                     PICD"
                     /inference="alignment:Splign:2.1.0"
     exon            744..921
                     /gene="IDH1"
                     /gene_synonym="HEL-216; HEL-S-26; IDCD; IDH; IDP; IDPC;
                     PICD"
                     /inference="alignment:Splign:2.1.0"
     exon            922..1073
                     /gene="IDH1"
                     /gene_synonym="HEL-216; HEL-S-26; IDCD; IDH; IDP; IDPC;
                     PICD"
                     /inference="alignment:Splign:2.1.0"
     exon            1074..1214
                     /gene="IDH1"
                     /gene_synonym="HEL-216; HEL-S-26; IDCD; IDH; IDP; IDPC;
                     PICD"
                     /inference="alignment:Splign:2.1.0"
     exon            1215..1377
                     /gene="IDH1"
                     /gene_synonym="HEL-216; HEL-S-26; IDCD; IDH; IDP; IDPC;
                     PICD"
                     /inference="alignment:Splign:2.1.0"
     exon            1378..2318
                     /gene="IDH1"
                     /gene_synonym="HEL-216; HEL-S-26; IDCD; IDH; IDP; IDPC;
                     PICD"
                     /inference="alignment:Splign:2.1.0"
     regulatory      2295..2300
                     /regulatory_class="polyA_signal_sequence"
                     /gene="IDH1"
                     /gene_synonym="HEL-216; HEL-S-26; IDCD; IDH; IDP; IDPC;
                     PICD"
                     /note="hexamer: ATTAAA"
     polyA_site      2318
                     /gene="IDH1"
                     /gene_synonym="HEL-216; HEL-S-26; IDCD; IDH; IDP; IDPC;
                     PICD"
                     /note="major polyA site"
ORIGIN      
        1 gggtttctgc agagtctact tcagaagcgg aggcactggg agtccggttt gggattgcca
       61 ggctgtggtt gtgagtctga gcttgtgagc ggctgtggcg ccccaactct tcgccagcat
      121 atcatcccgg caggcgataa actacattca gttgagtctg caagactggg aggaactggg
      181 gtgataagaa atctattcac tgtcaaggtt tattgaagtc aaaatgtcca aaaaaatcag
      241 tggcggttct gtggtagaga tgcaaggaga tgaaatgaca cgaatcattt gggaattgat
      301 taaagagaaa ctcatttttc cctacgtgga attggatcta catagctatg atttaggcat
      361 agagaatcgt gatgccacca acgaccaagt caccaaggat gctgcagaag ctataaagaa
      421 gcataatgtt ggcgtcaaat gtgccactat cactcctgat gagaagaggg ttgaggagtt
      481 caagttgaaa caaatgtgga aatcaccaaa tggcaccata cgaaatattc tgggtggcac
      541 ggtcttcaga gaagccatta tctgcaaaaa tatcccccgg cttgtgagtg gatgggtaaa
      601 acctatcatc ataggtcgtc atgcttatgg ggatcaatac agagcaactg attttgttgt
      661 tcctgggcct ggaaaagtag agataaccta cacaccaagt gacggaaccc aaaaggtgac
      721 atacctggta cataactttg aagaaggtgg tggtgttgcc atggggatgt ataatcaaga
      781 taagtcaatt gaagattttg cacacagttc cttccaaatg gctctgtcta agggttggcc
      841 tttgtatctg agcaccaaaa acactattct gaagaaatat gatgggcgtt ttaaagacat
      901 ctttcaggag atatatgaca agcagtacaa gtcccagttt gaagctcaaa agatctggta
      961 tgagcatagg ctcatcgacg acatggtggc ccaagctatg aaatcagagg gaggcttcat
     1021 ctgggcctgt aaaaactatg atggtgacgt gcagtcggac tctgtggccc aagggtatgg
     1081 ctctctcggc atgatgacca gcgtgctggt ttgtccagat ggcaagacag tagaagcaga
     1141 ggctgcccac gggactgtaa cccgtcacta ccgcatgtac cagaaaggac aggagacgtc
     1201 caccaatccc attgcttcca tttttgcctg gaccagaggg ttagcccaca gagcaaagct
     1261 tgataacaat aaagagcttg ccttctttgc aaatgctttg gaagaagtct ctattgagac
     1321 aattgaggct ggcttcatga ccaaggactt ggctgcttgc attaaaggtt tacccaatgt
     1381 gcaacgttct gactacttga atacatttga gttcatggat aaacttggag aaaacttgaa
     1441 gatcaaacta gctcaggcca aactttaagt tcatacctga gctaagaagg ataattgtct
     1501 tttggtaact aggtctacag gtttacattt ttctgtgtta cactcaagga taaaggcaaa
     1561 atcaattttg taatttgttt agaagccaga gtttatcttt tctataagtt tacagccttt
     1621 ttcttatata tacagttatt gccacctttg tgaacatggc aagggacttt tttacaattt
     1681 ttattttatt ttctagtacc agcctaggaa ttcggttagt actcatttgt attcactgtc
     1741 actttttctc atgttctaat tataaatgac caaaatcaag attgctcaaa agggtaaatg
     1801 atagccacag tattgctccc taaaatatgc ataaagtaga aattcactgc cttcccctcc
     1861 tgtccatgac cttgggcaca gggaagttct ggtgtcatag atatcccgtt ttgtgaggta
     1921 gagctgtgca ttaaacttgc acatgactgg aacgaagtag gagtgcaact caaatgtgtt
     1981 gaagatactg cagtcatttt tgtaaagacc ttgctgaatg tttccaatag actaaatact
     2041 gtttaggccg caggagagtt tggaatccgg aataaatact acctggaggt ttgtcctctc
     2101 catttttctc tttctcctcc tggcctggcc tgaatattat actactctaa atagcatatt
     2161 tcatccaagt gcaataatgt aagctgaatc ttttttggac ttctgctggc ctgttttatt
     2221 tcttttatat aaatgtgatt tctcagaaat tgatattaaa cactatctta tcttctcctg
     2281 aactgttgat tttaattaaa attaagtgct aattacca
//
