LOCUS       NM_001193313            1617 bp    mRNA    linear   PRI 16-FEB-2025
DEFINITION  Homo sapiens succinyl-CoA:glutarate-CoA transferase (SUGCT),
            transcript variant 3, mRNA.
ACCESSION   NM_001193313
VERSION     NM_001193313.2
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 1617)
  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 1617)
  AUTHORS   Leandro,J., Bender,A., Dodatko,T., Argmann,C., Yu,C. and
            Houten,S.M.
  TITLE     Glutaric aciduria type 3 is a naturally occurring biochemical trait
            in inbred mice of 129 substrains
  JOURNAL   Mol Genet Metab 132 (2), 139-145 (2021)
   PUBMED   33483254
  REMARK    GeneRIF: Glutaric aciduria type 3 is a naturally occurring
            biochemical trait in inbred mice of 129 substrains.
REFERENCE   3  (bases 1 to 1617)
  AUTHORS   La Serna-Infantes,J., Pastor,M.C., Trubnykova,M., Velasquez,F.C.,
            Sotomayor,F.V. and Barriga,H.A.
  TITLE     Novel contiguous gene deletion in peruvian girl with
            Trichothiodystrophy type 4 and glutaric aciduria type 3
  JOURNAL   Eur J Med Genet 61 (7), 388-392 (2018)
   PUBMED   29421601
  REMARK    GeneRIF: Chromosome microarray analysis showed a 125kb homozygous
            pathogenic deletion, which includes genes MPLKIP and SUGCT, not
            described before. This is the first case described in Peru of a
            novel contiguous gene deletion of Trichothiodystrophy type 4 and
            Glutaric aciduria type 3 performed by chromosome microarray
            analysis.
REFERENCE   4  (bases 1 to 1617)
  AUTHORS   Floyd,B.J., Wilkerson,E.M., Veling,M.T., Minogue,C.E., Xia,C.,
            Beebe,E.T., Wrobel,R.L., Cho,H., Kremer,L.S., Alston,C.L.,
            Gromek,K.A., Dolan,B.K., Ulbrich,A., Stefely,J.A., Bohl,S.L.,
            Werner,K.M., Jochem,A., Westphall,M.S., Rensvold,J.W., Taylor,R.W.,
            Prokisch,H., Kim,J.P., Coon,J.J. and Pagliarini,D.J.
  TITLE     Mitochondrial Protein Interaction Mapping Identifies Regulators of
            Respiratory Chain Function
  JOURNAL   Mol Cell 63 (4), 621-632 (2016)
   PUBMED   27499296
REFERENCE   5  (bases 1 to 1617)
  AUTHORS   Calvo,S.E., Compton,A.G., Hershman,S.G., Lim,S.C., Lieber,D.S.,
            Tucker,E.J., Laskowski,A., Garone,C., Liu,S., Jaffe,D.B.,
            Christodoulou,J., Fletcher,J.M., Bruno,D.L., Goldblatt,J.,
            Dimauro,S., Thorburn,D.R. and Mootha,V.K.
  TITLE     Molecular diagnosis of infantile mitochondrial disease with
            targeted next-generation sequencing
  JOURNAL   Sci Transl Med 4 (118), 118ra10 (2012)
   PUBMED   22277967
  REMARK    GeneRIF: Identified as a candidate disease gene for OXPHOS
            disorders by next-generation sequencing
REFERENCE   6  (bases 1 to 1617)
  AUTHORS   Bailey,S.D., Xie,C., Do,R., Montpetit,A., Diaz,R., Mohan,V.,
            Keavney,B., Yusuf,S., Gerstein,H.C., Engert,J.C. and Anand,S.
  CONSRTM   DREAM investigators
  TITLE     Variation at the NFATC2 locus increases the risk of
            thiazolidinedione-induced edema in the Diabetes REduction
            Assessment with ramipril and rosiglitazone Medication (DREAM) study
  JOURNAL   Diabetes Care 33 (10), 2250-2253 (2010)
   PUBMED   20628086
  REMARK    GeneRIF: Observational study of gene-disease association,
            gene-environment interaction, and pharmacogenomic / toxicogenomic.
            (HuGE Navigator)
REFERENCE   7  (bases 1 to 1617)
  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   8  (bases 1 to 1617)
  AUTHORS   Talmud,P.J., Drenos,F., Shah,S., Shah,T., Palmen,J., Verzilli,C.,
            Gaunt,T.R., Pallas,J., Lovering,R., Li,K., Casas,J.P., Sofat,R.,
            Kumari,M., Rodriguez,S., Johnson,T., Newhouse,S.J., Dominiczak,A.,
            Samani,N.J., Caulfield,M., Sever,P., Stanton,A., Shields,D.C.,
            Padmanabhan,S., Melander,O., Hastie,C., Delles,C., Ebrahim,S.,
            Marmot,M.G., Smith,G.D., Lawlor,D.A., Munroe,P.B., Day,I.N.,
            Kivimaki,M., Whittaker,J., Humphries,S.E. and Hingorani,A.D.
  CONSRTM   ASCOT investigators; NORDIL investigators; BRIGHT Consortium
  TITLE     Gene-centric association signals for lipids and apolipoproteins
            identified via the HumanCVD BeadChip
  JOURNAL   Am J Hum Genet 85 (5), 628-642 (2009)
   PUBMED   19913121
  REMARK    GeneRIF: Observational study of gene-disease association. (HuGE
            Navigator)
REFERENCE   9  (bases 1 to 1617)
  AUTHORS   Sherman,E.A., Strauss,K.A., Tortorelli,S., Bennett,M.J., Knerr,I.,
            Morton,D.H. and Puffenberger,E.G.
  TITLE     Genetic mapping of glutaric aciduria, type 3, to chromosome 7 and
            identification of mutations in c7orf10
  JOURNAL   Am J Hum Genet 83 (5), 604-609 (2008)
   PUBMED   18926513
  REMARK    GeneRIF: Geneic mapping of GA3 to chromosome 7 and identification
            of mutations in c7orf10 are reported.
REFERENCE   10 (bases 1 to 1617)
  AUTHORS   Nakabayashi,K., Fernandez,B.A., Teshima,I., Shuman,C., Proud,V.K.,
            Curry,C.J., Chitayat,D., Grebe,T., Ming,J., Oshimura,M., Meguro,M.,
            Mitsuya,K., Deb-Rinker,P., Herbrick,J.A., Weksberg,R. and
            Scherer,S.W.
  TITLE     Molecular genetic studies of human chromosome 7 in Russell-Silver
            syndrome
  JOURNAL   Genomics 79 (2), 186-196 (2002)
   PUBMED   11829489
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AK021870.1, AK296048.1 and
            AC005160.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Oct 25, 2019 this sequence version replaced NM_001193313.1.
            
            Summary: This gene encodes a protein that is similar to members of
            the CaiB/baiF CoA-transferase protein family. Mutations in this
            gene are associated with glutaric aciduria type III. Alternate
            splicing results in multiple transcript variants. [provided by
            RefSeq, Jul 2010].
            
            Transcript Variant: This variant (3) lacks an in-frame exon in the
            coding region, compared to variant 1. This variant encodes isoform
            3, which is shorter than 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 :: AK307935.1, AK299133.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1968540, SAMEA1968968
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000335693.9/ ENSP00000338475.5
            RefSeq Select criteria :: based on manual assertion, conservation,
                                      expression
            ##RefSeq-Attributes-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-4                 AK021870.1         30-33
            5-1341              AK296048.1         1-1337
            1342-1617           AC005160.1         83670-83945
FEATURES             Location/Qualifiers
     source          1..1617
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="7"
                     /map="7p14.1"
     gene            1..1617
                     /gene="SUGCT"
                     /gene_synonym="C7orf10; DERP13; GA3; ORF19"
                     /note="succinyl-CoA:glutarate-CoA transferase"
                     /db_xref="GeneID:79783"
                     /db_xref="HGNC:HGNC:16001"
                     /db_xref="MIM:609187"
     exon            1..116
                     /gene="SUGCT"
                     /gene_synonym="C7orf10; DERP13; GA3; ORF19"
                     /inference="alignment:Splign:2.1.0"
     CDS             17..1333
                     /gene="SUGCT"
                     /gene_synonym="C7orf10; DERP13; GA3; ORF19"
                     /EC_number="2.8.3.13"
                     /note="isoform 3 is encoded by transcript variant 3;
                     Russel-Silver syndrome candidate; dermal papilla-derived
                     protein 13; succinate--hydroxymethylglutarate
                     CoA-transferase; succinylCoA:glutarate-CoA transferase;
                     dicarboxyl-CoA:dicarboxylic acid coenzyme A transferase
                     SUGCT"
                     /codon_start=1
                     /product="succinyl-CoA:glutarate CoA-transferase isoform
                     3"
                     /protein_id="NP_001180242.2"
                     /db_xref="CCDS:CCDS55105.2"
                     /db_xref="GeneID:79783"
                     /db_xref="HGNC:HGNC:16001"
                     /db_xref="MIM:609187"
                     /translation="MLATLARVAALRRTCLFSGRGGGRGLWTGRPQSDMNNIKPLEGV
                     KILDLTRVLAGPFATMNLGDLGAEVIKVERPGAGDDTRTWGPPFVGTESTYYLSVNRN
                     KKSIAVNIKDPKGVKIIKELAAVCDVFVENYVPGKLSAMGLGYEDIDEIAPHIIYCSI
                     TGYGQTGPISQRAGYDAVASAVSGLMHITGPENGDPVRPGVAMTDLATGLYAYGAIMA
                     GLIQKYKTGKGLFIDCNLLSSQVACLSHIAANYLIGQKEAKRWGTAHGSIVPYQAFKT
                     KDGYIVVGAGNNQQFATVCKILDLPELIDNSKYKTNHLRVHNRKELIKILSERFEEEL
                     TSKWLYLFEGSGVPYGPINNMKNVFAEPQVLHNGLVMEMEHPTVGKISVPGPAVRYSK
                     FKMSEARPPPLLGQHTTHILKEVLRYDDRAIGELLSAGVVDQHETH"
     exon            117..168
                     /gene="SUGCT"
                     /gene_synonym="C7orf10; DERP13; GA3; ORF19"
                     /inference="alignment:Splign:2.1.0"
     exon            169..242
                     /gene="SUGCT"
                     /gene_synonym="C7orf10; DERP13; GA3; ORF19"
                     /inference="alignment:Splign:2.1.0"
     exon            243..328
                     /gene="SUGCT"
                     /gene_synonym="C7orf10; DERP13; GA3; ORF19"
                     /inference="alignment:Splign:2.1.0"
     exon            329..379
                     /gene="SUGCT"
                     /gene_synonym="C7orf10; DERP13; GA3; ORF19"
                     /inference="alignment:Splign:2.1.0"
     exon            380..500
                     /gene="SUGCT"
                     /gene_synonym="C7orf10; DERP13; GA3; ORF19"
                     /inference="alignment:Splign:2.1.0"
     exon            501..592
                     /gene="SUGCT"
                     /gene_synonym="C7orf10; DERP13; GA3; ORF19"
                     /inference="alignment:Splign:2.1.0"
     exon            593..736
                     /gene="SUGCT"
                     /gene_synonym="C7orf10; DERP13; GA3; ORF19"
                     /inference="alignment:Splign:2.1.0"
     exon            737..832
                     /gene="SUGCT"
                     /gene_synonym="C7orf10; DERP13; GA3; ORF19"
                     /inference="alignment:Splign:2.1.0"
     exon            833..904
                     /gene="SUGCT"
                     /gene_synonym="C7orf10; DERP13; GA3; ORF19"
                     /inference="alignment:Splign:2.1.0"
     exon            905..1002
                     /gene="SUGCT"
                     /gene_synonym="C7orf10; DERP13; GA3; ORF19"
                     /inference="alignment:Splign:2.1.0"
     exon            1003..1105
                     /gene="SUGCT"
                     /gene_synonym="C7orf10; DERP13; GA3; ORF19"
                     /inference="alignment:Splign:2.1.0"
     exon            1106..1169
                     /gene="SUGCT"
                     /gene_synonym="C7orf10; DERP13; GA3; ORF19"
                     /inference="alignment:Splign:2.1.0"
     exon            1170..1617
                     /gene="SUGCT"
                     /gene_synonym="C7orf10; DERP13; GA3; ORF19"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1588..1593
                     /regulatory_class="polyA_signal_sequence"
                     /gene="SUGCT"
                     /gene_synonym="C7orf10; DERP13; GA3; ORF19"
                     /note="hexamer: AATAAA"
     polyA_site      1617
                     /gene="SUGCT"
                     /gene_synonym="C7orf10; DERP13; GA3; ORF19"
                     /note="major polyA site"
ORIGIN      
        1 atctgagacg cacgcgatgc tggcgacgct ggcgagggtg gcagctctgc gcagaacctg
       61 cctcttctcc ggccggggcg gcgggagggg gctgtggact ggccgcccgc agtcagatat
      121 gaacaatata aagccattgg aaggggtaaa aattctggat ctaacaagag tcctggcggg
      181 accttttgct actatgaatt taggagatct tggagcagaa gttataaaag tggagagacc
      241 aggagctggt gatgatacac gaacttgggg gccacctttt gttgggacag aaagtacata
      301 ttatctcagt gttaaccgaa ataaaaaaag tattgctgtt aatatcaagg atccaaaagg
      361 ggtgaaaatc atcaaagagc ttgcagctgt ttgtgatgtg tttgtggaaa actatgtccc
      421 tggcaaactg tctgcaatgg gcctgggata tgaagatata gacgagattg ctcctcacat
      481 catctattgt tccatcacag ggtatggtca gacaggtcca atttctcagc gagctggtta
      541 tgatgctgtt gcctcggctg tttctggtct gatgcacatc acagggcctg agaatggaga
      601 tccagttcgc ccaggagtag ctatgactga tcttgccact ggcctgtatg catatggagc
      661 tattatggct ggattgatac aaaaatacaa aactgggaaa ggactgttca ttgattgtaa
      721 cctactgtca tcccaggtgg cgtgtttgtc tcacatagct gcaaattatc ttattggtca
      781 aaaggaagca aaacgttggg gtacagctca tggcagtatc gttccttacc aggcttttaa
      841 aaccaaggat ggctatattg tagttggagc aggaaataac cagcagtttg ccaccgtctg
      901 caagatcttg gatttgcctg agttgattga taattccaag tataaaacta accaccttcg
      961 ggtacacaat agaaaagagc ttattaaaat attatctgaa cggtttgaag aagaactgac
     1021 cagcaagtgg ttatatcttt ttgaaggcag tggagtcccg tatggcccaa tcaacaacat
     1081 gaagaatgta tttgcagaac ctcaggtatt acacaatggc ctcgttatgg agatggagca
     1141 tccaactgtg gggaagattt ccgtcccagg cccagctgtg agatacagta agttcaagat
     1201 gtcagaggcc aggccgcccc cgctgctcgg gcagcacaca acgcacatcc tgaaggaggt
     1261 cctgagatac gatgacaggg ccatcgggga gctgctcagc gctggagtgg tggaccaaca
     1321 tgaaactcac tgacaaagga aaagggctct tcctcataac ctcgatccga atacactggc
     1381 aaaggcaaca ctttgcttgg acccttctcc ccagttctga taccactaaa aagaagattt
     1441 agagtaactc cagatttctt acatggcatc tccagaatgg ctctggtatt aatgaatcta
     1501 gtgcctttta aatgtatccc acgttttgtt ccctaccatc ttttttttca gatgatgatt
     1561 tcattatgga tttgtgggat ttttaaaaat aaagttttaa tttttttcct ggaaaaa
//
