LOCUS       NM_004135               1335 bp    mRNA    linear   PRI 19-SEP-2024
DEFINITION  Homo sapiens isocitrate dehydrogenase (NAD(+)) 3 non-catalytic
            subunit gamma (IDH3G), transcript variant 1, mRNA; nuclear gene for
            mitochondrial product.
ACCESSION   NM_004135
VERSION     NM_004135.4
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 1335)
  AUTHORS   Morgenstern,M., Peikert,C.D., Lubbert,P., Suppanz,I., Klemm,C.,
            Alka,O., Steiert,C., Naumenko,N., Schendzielorz,A., Melchionda,L.,
            Muhlhauser,W.W.D., Knapp,B., Busch,J.D., Stiller,S.B.,
            Dannenmaier,S., Lindau,C., Licheva,M., Eickhorst,C., Galbusera,R.,
            Zerbes,R.M., Ryan,M.T., Kraft,C., Kozjak-Pavlovic,V., Drepper,F.,
            Dennerlein,S., Oeljeklaus,S., Pfanner,N., Wiedemann,N. and
            Warscheid,B.
  TITLE     Quantitative high-confidence human mitochondrial proteome and its
            dynamics in cellular context
  JOURNAL   Cell Metab 33 (12), 2464-2483 (2021)
   PUBMED   34800366
REFERENCE   2  (bases 1 to 1335)
  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 1335)
  AUTHORS   Huttlin,E.L., Bruckner,R.J., Paulo,J.A., Cannon,J.R., Ting,L.,
            Baltier,K., Colby,G., Gebreab,F., Gygi,M.P., Parzen,H., Szpyt,J.,
            Tam,S., Zarraga,G., Pontano-Vaites,L., Swarup,S., White,A.E.,
            Schweppe,D.K., Rad,R., Erickson,B.K., Obar,R.A., Guruharsha,K.G.,
            Li,K., Artavanis-Tsakonas,S., Gygi,S.P. and Harper,J.W.
  TITLE     Architecture of the human interactome defines protein communities
            and disease networks
  JOURNAL   Nature 545 (7655), 505-509 (2017)
   PUBMED   28514442
REFERENCE   4  (bases 1 to 1335)
  AUTHORS   Ma,T., Peng,Y., Huang,W. and Ding,J.
  TITLE     Molecular mechanism of the allosteric regulation of the alphagamma
            heterodimer of human NAD-dependent isocitrate dehydrogenase
  JOURNAL   Sci Rep 7, 40921 (2017)
   PUBMED   28098230
  REMARK    Publication Status: Online-Only
REFERENCE   5  (bases 1 to 1335)
  AUTHORS   Bzymek,K.P. and Colman,R.F.
  TITLE     Role of alpha-Asp181, beta-Asp192, and gamma-Asp190 in the
            distinctive subunits of human NAD-specific isocitrate dehydrogenase
  JOURNAL   Biochemistry 46 (18), 5391-5397 (2007)
   PUBMED   17432878
  REMARK    GeneRIF: Aspartate-190 is a determinant of IDH gamma subunit
            affinity for the manganese (MnII) ion, as well as for
            nicotinamide-adenine dinucleotide (NAD), but is not directly
            required for the catalytic reaction.
REFERENCE   6  (bases 1 to 1335)
  AUTHORS   Simpson,J.C., Wellenreuther,R., Poustka,A., Pepperkok,R. and
            Wiemann,S.
  TITLE     Systematic subcellular localization of novel proteins identified by
            large-scale cDNA sequencing
  JOURNAL   EMBO Rep 1 (3), 287-292 (2000)
   PUBMED   11256614
REFERENCE   7  (bases 1 to 1335)
  AUTHORS   Weiss,C., Zeng,Y., Huang,J., Sobocka,M.B. and Rushbrook,J.I.
  TITLE     Bovine NAD+-dependent isocitrate dehydrogenase: alternative
            splicing and tissue-dependent expression of subunit 1
  JOURNAL   Biochemistry 39 (7), 1807-1816 (2000)
   PUBMED   10677231
REFERENCE   8  (bases 1 to 1335)
  AUTHORS   Kim,Y.O., Koh,H.J., Kim,S.H., Jo,S.H., Huh,J.W., Jeong,K.S.,
            Lee,I.J., Song,B.J. and Huh,T.L.
  TITLE     Identification and functional characterization of a novel,
            tissue-specific NAD(+)-dependent isocitrate dehydrogenase beta
            subunit isoform
  JOURNAL   J Biol Chem 274 (52), 36866-36875 (1999)
   PUBMED   10601238
REFERENCE   9  (bases 1 to 1335)
  AUTHORS   Brenner,V., Nyakatura,G., Rosenthal,A. and Platzer,M.
  TITLE     Genomic organization of two novel genes on human Xq28: compact head
            to head arrangement of IDH gamma and TRAP delta is conserved in rat
            and mouse
  JOURNAL   Genomics 44 (1), 8-14 (1997)
   PUBMED   9286695
REFERENCE   10 (bases 1 to 1335)
  AUTHORS   Sandoval,N., Bauer,D., Brenner,V., Coy,J.F., Drescher,B.,
            Kioschis,P., Korn,B., Nyakatura,G., Poustka,A., Reichwald,K.,
            Rosenthal,A. and Platzer,M.
  TITLE     The genomic organization of a human creatine transporter (CRTR)
            gene located in Xq28
  JOURNAL   Genomics 35 (2), 383-385 (1996)
   PUBMED   8661155
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from BI831096.1 and BC000933.2.
            
            On Nov 22, 2018 this sequence version replaced NM_004135.3.
            
            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.
            NAD(+)-dependent isocitrate dehydrogenases catalyze the
            allosterically regulated rate-limiting step of the tricarboxylic
            acid cycle. Each isozyme is a heterotetramer that is composed of
            two alpha subunits, one beta subunit, and one gamma subunit. The
            protein encoded by this gene is the gamma subunit of one isozyme of
            NAD(+)-dependent isocitrate dehydrogenase. This gene is a candidate
            gene for periventricular heterotopia. Several alternatively spliced
            transcript variants of this gene have been described, but only some
            of their full length natures have been determined. [provided by
            RefSeq, Jul 2008].
            
            Transcript Variant: This variant (1) encodes the longer 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 :: Z68907.1, SRR3476690.946117.1
                                           [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            gene product(s) localized to mito. :: reported by MitoCarta
            MANE Ensembl match                 :: ENST00000217901.10/
                                                  ENSP00000217901.5
            RefSeq Select criteria             :: based on conservation,
                                                  expression, longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-7                 BI831096.1         149-155
            8-1335              BC000933.2         2-1329
FEATURES             Location/Qualifiers
     source          1..1335
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="X"
                     /map="Xq28"
     gene            1..1335
                     /gene="IDH3G"
                     /gene_synonym="H-IDHG"
                     /note="isocitrate dehydrogenase (NAD(+)) 3 non-catalytic
                     subunit gamma"
                     /db_xref="GeneID:3421"
                     /db_xref="HGNC:HGNC:5386"
                     /db_xref="MIM:300089"
     exon            1..130
                     /gene="IDH3G"
                     /gene_synonym="H-IDHG"
                     /inference="alignment:Splign:2.1.0"
     CDS             50..1231
                     /gene="IDH3G"
                     /gene_synonym="H-IDHG"
                     /EC_number="1.1.1.41"
                     /note="isoform a precursor is encoded by transcript
                     variant 1; NAD+-specific ICDH; IDH-gamma; isocitrate
                     dehydrogenase 3 (NAD(+)) gamma; isocitrate dehydrogenase,
                     NAD(+)-specific, mitochondrial, gamma subunit; isocitrate
                     dehydrogenase (NAD(+)) 3 gamma; isocitrate dehydrogenase
                     [NAD] subunit gamma, mitochondrial; NAD(+)-specific ICDH
                     subunit gamma; isocitric dehydrogenase subunit gamma; NAD
                     (H)-specific isocitrate dehydrogenase gamma subunit;
                     isocitrate dehydrogenase 3 (NAD+) gamma; isocitrate
                     dehydrogenase 3 gamma"
                     /codon_start=1
                     /product="isocitrate dehydrogenase [NAD] subunit gamma,
                     mitochondrial isoform a precursor"
                     /protein_id="NP_004126.1"
                     /db_xref="CCDS:CCDS14730.1"
                     /db_xref="GeneID:3421"
                     /db_xref="HGNC:HGNC:5386"
                     /db_xref="MIM:300089"
                     /translation="MALKVATVAGSAAKAVLGPALLCRPWEVLGAHEVPSRNIFSEQT
                     IPPSAKYGGRHTVTMIPGDGIGPELMLHVKSVFRHACVPVDFEEVHVSSNADEEDIRN
                     AIMAIRRNRVALKGNIETNHNLPPSHKSRNNILRTSLDLYANVIHCKSLPGVVTRHKD
                     IDILIVRENTEGEYSSLEHESVAGVVESLKIITKAKSLRIAEYAFKLAQESGRKKVTA
                     VHKANIMKLGDGLFLQCCREVAARYPQITFENMIVDNTTMQLVSRPQQFDVMVMPNLY
                     GNIVNNVCAGLVGGPGLVAGANYGHVYAVFETATRNTGKSIANKNIANPTATLLASCM
                     MLDHLKLHSYATSIRKAVLASMDNENMHTPDIGGQGTTSEAIQDVIRHIRVINGRAVE
                     A"
     exon            131..172
                     /gene="IDH3G"
                     /gene_synonym="H-IDHG"
                     /inference="alignment:Splign:2.1.0"
     exon            173..184
                     /gene="IDH3G"
                     /gene_synonym="H-IDHG"
                     /inference="alignment:Splign:2.1.0"
     exon            185..282
                     /gene="IDH3G"
                     /gene_synonym="H-IDHG"
                     /inference="alignment:Splign:2.1.0"
     exon            283..395
                     /gene="IDH3G"
                     /gene_synonym="H-IDHG"
                     /inference="alignment:Splign:2.1.0"
     exon            396..456
                     /gene="IDH3G"
                     /gene_synonym="H-IDHG"
                     /inference="alignment:Splign:2.1.0"
     exon            457..589
                     /gene="IDH3G"
                     /gene_synonym="H-IDHG"
                     /inference="alignment:Splign:2.1.0"
     exon            590..723
                     /gene="IDH3G"
                     /gene_synonym="H-IDHG"
                     /inference="alignment:Splign:2.1.0"
     exon            724..826
                     /gene="IDH3G"
                     /gene_synonym="H-IDHG"
                     /inference="alignment:Splign:2.1.0"
     exon            827..973
                     /gene="IDH3G"
                     /gene_synonym="H-IDHG"
                     /inference="alignment:Splign:2.1.0"
     exon            974..1068
                     /gene="IDH3G"
                     /gene_synonym="H-IDHG"
                     /inference="alignment:Splign:2.1.0"
     exon            1069..1129
                     /gene="IDH3G"
                     /gene_synonym="H-IDHG"
                     /inference="alignment:Splign:2.1.0"
     exon            1130..1335
                     /gene="IDH3G"
                     /gene_synonym="H-IDHG"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1316..1321
                     /regulatory_class="polyA_signal_sequence"
                     /gene="IDH3G"
                     /gene_synonym="H-IDHG"
                     /note="hexamer: AATAAA"
     polyA_site      1335
                     /gene="IDH3G"
                     /gene_synonym="H-IDHG"
                     /note="major polyA site"
ORIGIN      
        1 gagagcggta tctgcgtgtc gggacgtgcg gaggctctca ctttccgtca tggcgctgaa
       61 ggtagcgacc gtcgccggca gcgccgcgaa ggcggtgctc gggccagccc ttctctgccg
      121 tccctgggag gttctaggcg cccacgaggt cccctcgagg aacatctttt cagaacaaac
      181 aattcctccg tccgctaagt atggcgggcg gcacacggtg accatgatcc caggggatgg
      241 catcgggcca gagctcatgc tgcatgtcaa gtccgtcttc aggcacgcat gtgtaccagt
      301 ggactttgaa gaggtgcacg tgagttccaa tgctgatgaa gaggacattc gcaatgccat
      361 catggccatc cgccggaacc gcgtggccct gaagggcaac atcgaaacca accataacct
      421 gccaccgtcg cacaaatctc gaaacaacat ccttcgcacc agcctggacc tctatgccaa
      481 cgtcatccac tgtaagagcc ttccaggcgt ggtgacccgg cacaaggaca tagacatcct
      541 cattgtccgg gagaacacag agggcgagta cagcagcctg gagcatgaga gtgtggcggg
      601 agtggtggag agcctgaaga tcatcaccaa ggccaagtcc ctgcgcattg ccgagtatgc
      661 cttcaagctg gcgcaggaga gcgggcgcaa gaaagtgacg gccgtgcaca aggccaacat
      721 catgaaactg ggcgatgggc ttttcctcca gtgctgcagg gaggtggcag cccgctaccc
      781 tcagatcacc ttcgagaaca tgattgtgga taacaccacc atgcagctgg tgtcccggcc
      841 ccagcagttt gatgtcatgg tgatgcccaa tctctatggc aacatcgtca acaatgtctg
      901 cgcgggactg gtcgggggcc caggccttgt ggctggggcc aactatggcc atgtgtacgc
      961 ggtgtttgaa acagctacga ggaacaccgg caagagtatc gccaataaga acatcgccaa
     1021 ccccacggcc accctgctgg ccagctgcat gatgctggac cacctcaagc tgcactccta
     1081 tgccacctcc atccgtaagg ctgtcctggc atccatggac aatgagaata tgcacactcc
     1141 ggacatcggg ggccagggca caacatctga agccatccag gacgtcatcc gccacatccg
     1201 cgtcatcaac ggccgggccg tggaggccta ggctggccct aggaccttct tggtttgctc
     1261 cttggattcc ccttcccact ccagcacccc agccagcctg gtacgcagat cccagaataa
     1321 agcaccttct cccta
//
