LOCUS       NM_014362               2434 bp    mRNA    linear   PRI 15-OCT-2024
DEFINITION  Homo sapiens 3-hydroxyisobutyryl-CoA hydrolase (HIBCH), transcript
            variant 1, mRNA; nuclear gene for mitochondrial product.
ACCESSION   NM_014362
VERSION     NM_014362.4
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 2434)
  AUTHORS   Meng,X.H., Weng,Y.T., Rao,Y., Xu,Y.Q., Sun,H. and Li,C.
  TITLE     Two genetic variants in the HIBCH and FTCDNL1 genes are associated
            with susceptibility to developmental dysplasia of the hips among
            the Han Chinese population of Southwest China
  JOURNAL   J Orthop Surg Res 19 (1), 464 (2024)
   PUBMED   39113043
  REMARK    GeneRIF: Two genetic variants in the HIBCH and FTCDNL1 genes are
            associated with susceptibility to developmental dysplasia of the
            hips among the Han Chinese population of Southwest China.
            Publication Status: Online-Only
REFERENCE   2  (bases 1 to 2434)
  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   3  (bases 1 to 2434)
  AUTHORS   Marti-Sanchez,L., Baide-Mairena,H., Marce-Grau,A., Pons,R.,
            Skouma,A., Lopez-Laso,E., Sigatullina,M., Rizzo,C., Semeraro,M.,
            Martinelli,D., Carrozzo,R., Dionisi-Vici,C.,
            Gonzalez-Gutierrez-Solana,L., Correa-Vela,M.,
            Ortigoza-Escobar,J.D., Sanchez-Montanez,A., Vazquez,E., Delgado,I.,
            Aguilera-Albesa,S., Yoldi,M.E., Ribes,A., Tort,F., Pollini,L.,
            Galosi,S., Leuzzi,V., Tolve,M., Perez-Gay,L.,
            Aldamiz-Echevarria,L., Del Toro,M., Arranz,A., Roelens,F.,
            Urreizti,R., Artuch,R., Macaya,A. and Perez-Duenas,B.
  TITLE     Delineating the neurological phenotype in children with defects in
            the ECHS1 or HIBCH gene
  JOURNAL   J Inherit Metab Dis 44 (2), 401-414 (2021)
   PUBMED   32677093
  REMARK    GeneRIF: Delineating the neurological phenotype in children with
            defects in the ECHS1 or HIBCH gene.
REFERENCE   4  (bases 1 to 2434)
  AUTHORS   Shan,Y., Gao,Y., Jin,W., Fan,M., Wang,Y., Gu,Y., Shan,C., Sun,L.,
            Li,X., Yu,B., Luo,Q. and Xu,Q.
  TITLE     Targeting HIBCH to reprogram valine metabolism for the treatment of
            colorectal cancer
  JOURNAL   Cell Death Dis 10 (8), 618 (2019)
   PUBMED   31409769
  REMARK    GeneRIF: The present study identified HIBCH as a critical enzyme of
            valine catabolism in colorectal cancer progression.
            Publication Status: Online-Only
REFERENCE   5  (bases 1 to 2434)
  AUTHORS   Dalmia,A., Dib,M.J., Maude,H., Harrington,D.J.,
            Sobczynska-Malefora,A., Andrew,T. and Ahmadi,K.R.
  TITLE     A genetic epidemiological study in British adults and older adults
            shows a high heritability of the combined indicator of vitamin B12
            status (cB12) and connects B12 status with utilization of
            mitochondrial substrates and energy metabolism
  JOURNAL   J Nutr Biochem 70, 156-163 (2019)
   PUBMED   31203192
  REMARK    GeneRIF: A genetic epidemiological study in British adults and
            older adults shows a high heritability of the combined indicator of
            vitamin B12 status (cB12) and connects B12 status with utilization
            of mitochondrial substrates and energy metabolism.
REFERENCE   6  (bases 1 to 2434)
  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   7  (bases 1 to 2434)
  AUTHORS   Wu,C., Ma,M.H., Brown,K.R., Geisler,M., Li,L., Tzeng,E., Jia,C.Y.,
            Jurisica,I. and Li,S.S.
  TITLE     Systematic identification of SH3 domain-mediated human
            protein-protein interactions by peptide array target screening
  JOURNAL   Proteomics 7 (11), 1775-1785 (2007)
   PUBMED   17474147
REFERENCE   8  (bases 1 to 2434)
  AUTHORS   Loupatty,F.J., Clayton,P.T., Ruiter,J.P., Ofman,R., Ijlst,L.,
            Brown,G.K., Thorburn,D.R., Harris,R.A., Duran,M., Desousa,C.,
            Krywawych,S., Heales,S.J. and Wanders,R.J.
  TITLE     Mutations in the gene encoding 3-hydroxyisobutyryl-CoA hydrolase
            results in progressive infantile neurodegeneration
  JOURNAL   Am J Hum Genet 80 (1), 195-199 (2007)
   PUBMED   17160907
  REMARK    GeneRIF: Molecular analysis in both patients uncovered mutations in
            the HIBCH gene, including one missense mutation in a conserved part
            of the protein and two mutations affecting splicing.
REFERENCE   9  (bases 1 to 2434)
  AUTHORS   Ishigure,K., Shimomura,Y., Murakami,T., Kaneko,T., Takeda,S.,
            Inoue,S., Nomoto,S., Koshikawa,K., Nonami,T. and Nakao,A.
  TITLE     Human liver disease decreases methacrylyl-CoA hydratase and
            beta-hydroxyisobutyryl-CoA hydrolase activities in valine
            catabolism
  JOURNAL   Clin Chim Acta 312 (1-2), 115-121 (2001)
   PUBMED   11580916
REFERENCE   10 (bases 1 to 2434)
  AUTHORS   Hawes,J.W., Jaskiewicz,J., Shimomura,Y., Huang,B., Bunting,J.,
            Harper,E.T. and Harris,R.A.
  TITLE     Primary structure and tissue-specific expression of human
            beta-hydroxyisobutyryl-coenzyme A hydrolase
  JOURNAL   J Biol Chem 271 (42), 26430-26434 (1996)
   PUBMED   8824301
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC092178.4, AC010679.6 and
            AK223023.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Nov 22, 2018 this sequence version replaced NM_014362.3.
            
            Summary: This gene encodes the enzyme responsible for hydrolysis of
            both HIBYL-CoA and beta-hydroxypropionyl-CoA. Mutations in this
            gene have been associated with 3-hyroxyisobutyryl-CoA hydrolase
            deficiency. Alternative splicing results in multiple transcript
            variants.[provided by RefSeq, May 2010].
            
            Transcript Variant: This variant (1) represents the longer
            transcript and encodes the longer 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 :: SRR1660803.42595.1,
                                           SRR1660803.57272.1 [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                 :: ENST00000359678.10/
                                                  ENSP00000352706.5
            RefSeq Select criteria             :: based on conservation,
                                                  expression, longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-111               AC092178.4         56221-56331         c
            112-154             AC092178.4         47259-47301         c
            155-295             AC092178.4         33318-33458         c
            296-380             AC092178.4         31051-31135         c
            381-461             AC092178.4         26910-26990         c
            462-514             AC092178.4         24091-24143         c
            515-593             AC010679.6         184598-184676       c
            594-739             AC010679.6         175604-175749       c
            740-826             AC010679.6         173082-173168       c
            827-885             AC010679.6         169596-169654       c
            886-967             AC010679.6         168329-168410       c
            968-1087            AC010679.6         136398-136517       c
            1088-1121           AC010679.6         132322-132355       c
            1122-1713           AC010679.6         128083-128674       c
            1714-1720           AK223023.1         1657-1663
            1721-2434           AC010679.6         127362-128075       c
FEATURES             Location/Qualifiers
     source          1..2434
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="2"
                     /map="2q32.2"
     gene            1..2434
                     /gene="HIBCH"
                     /gene_synonym="HIBYLCOAH"
                     /note="3-hydroxyisobutyryl-CoA hydrolase"
                     /db_xref="GeneID:26275"
                     /db_xref="HGNC:HGNC:4908"
                     /db_xref="MIM:610690"
     exon            1..111
                     /gene="HIBCH"
                     /gene_synonym="HIBYLCOAH"
                     /inference="alignment:Splign:2.1.0"
     CDS             77..1237
                     /gene="HIBCH"
                     /gene_synonym="HIBYLCOAH"
                     /EC_number="3.1.2.4"
                     /note="isoform 1 precursor is encoded by transcript
                     variant 1; 3-hydroxyisobutyryl-Coenzyme A hydrolase;
                     3-hydroxyisobutyryl-CoA hydrolase, mitochondrial; HIB-CoA
                     hydrolase; HIBYL-CoA-H; testicular tissue protein Li 86"
                     /codon_start=1
                     /product="3-hydroxyisobutyryl-CoA hydrolase, mitochondrial
                     isoform 1 precursor"
                     /protein_id="NP_055177.2"
                     /db_xref="CCDS:CCDS2304.1"
                     /db_xref="GeneID:26275"
                     /db_xref="HGNC:HGNC:4908"
                     /db_xref="MIM:610690"
                     /translation="MGQREMWRLMSRFNAFKRTNTILHHLRMSKHTDAAEEVLLEKKG
                     CTGVITLNRPKFLNALTLNMIRQIYPQLKKWEQDPETFLIIIKGAGGKAFCAGGDIRV
                     ISEAEKAKQKIAPVFFREEYMLNNAVGSCQKPYVALIHGITMGGGVGLSVHGQFRVAT
                     EKCLFAMPETAIGLFPDVGGGYFLPRLQGKLGYFLALTGFRLKGRDVYRAGIATHFVD
                     SEKLAMLEEDLLALKSPSKENIASVLENYHTESKIDRDKSFILEEHMDKINSCFSANT
                     VEEIIENLQQDGSSFALEQLKVINKMSPTSLKITLRQLMEGSSKTLQEVLTMEYRLSQ
                     ACMRGHDFHEGVRAVLIDKDQSPKWKPADLKEVTEEDLNNHFKSLGSSDLKF"
     exon            112..154
                     /gene="HIBCH"
                     /gene_synonym="HIBYLCOAH"
                     /inference="alignment:Splign:2.1.0"
     exon            155..295
                     /gene="HIBCH"
                     /gene_synonym="HIBYLCOAH"
                     /inference="alignment:Splign:2.1.0"
     exon            296..380
                     /gene="HIBCH"
                     /gene_synonym="HIBYLCOAH"
                     /inference="alignment:Splign:2.1.0"
     exon            381..461
                     /gene="HIBCH"
                     /gene_synonym="HIBYLCOAH"
                     /inference="alignment:Splign:2.1.0"
     exon            462..514
                     /gene="HIBCH"
                     /gene_synonym="HIBYLCOAH"
                     /inference="alignment:Splign:2.1.0"
     exon            515..593
                     /gene="HIBCH"
                     /gene_synonym="HIBYLCOAH"
                     /inference="alignment:Splign:2.1.0"
     exon            594..739
                     /gene="HIBCH"
                     /gene_synonym="HIBYLCOAH"
                     /inference="alignment:Splign:2.1.0"
     exon            740..826
                     /gene="HIBCH"
                     /gene_synonym="HIBYLCOAH"
                     /inference="alignment:Splign:2.1.0"
     exon            827..885
                     /gene="HIBCH"
                     /gene_synonym="HIBYLCOAH"
                     /inference="alignment:Splign:2.1.0"
     exon            886..967
                     /gene="HIBCH"
                     /gene_synonym="HIBYLCOAH"
                     /inference="alignment:Splign:2.1.0"
     exon            968..1087
                     /gene="HIBCH"
                     /gene_synonym="HIBYLCOAH"
                     /inference="alignment:Splign:2.1.0"
     exon            1088..1121
                     /gene="HIBCH"
                     /gene_synonym="HIBYLCOAH"
                     /inference="alignment:Splign:2.1.0"
     exon            1122..2434
                     /gene="HIBCH"
                     /gene_synonym="HIBYLCOAH"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1422..1427
                     /regulatory_class="polyA_signal_sequence"
                     /gene="HIBCH"
                     /gene_synonym="HIBYLCOAH"
                     /note="hexamer: AATAAA"
     polyA_site      1444
                     /gene="HIBCH"
                     /gene_synonym="HIBYLCOAH"
     regulatory      1694..1699
                     /regulatory_class="polyA_signal_sequence"
                     /gene="HIBCH"
                     /gene_synonym="HIBYLCOAH"
                     /note="hexamer: AATAAA"
     polyA_site      1720
                     /gene="HIBCH"
                     /gene_synonym="HIBYLCOAH"
                     /note="major polyA site"
     regulatory      2414..2419
                     /regulatory_class="polyA_signal_sequence"
                     /gene="HIBCH"
                     /gene_synonym="HIBYLCOAH"
                     /note="hexamer: AATAAA"
     polyA_site      2434
                     /gene="HIBCH"
                     /gene_synonym="HIBYLCOAH"
ORIGIN      
        1 gggcggggct cacgcgaggc gctggaacgg tccgggagat tctcgctctg ctgctttagc
       61 ttcggagtgt ttggcgatgg ggcagcgcga gatgtggagg ctcatgtcga ggtttaatgc
      121 attcaaaagg actaatacca tactgcacca tttgagaatg tccaagcaca cagatgcagc
      181 agaagaggtg ctattggaaa aaaaaggttg cacgggagtc ataacactaa acagaccaaa
      241 gttcctcaat gcactgactc ttaatatgat tcggcagatt tatccacagc taaagaagtg
      301 ggaacaagat cctgaaactt tcctgatcat tataaaggga gcaggaggaa aggctttctg
      361 tgccgggggt gatatcagag tgatctcgga agctgaaaag gcaaaacaga agatagctcc
      421 agttttcttc agagaagaat atatgctgaa taatgctgtt ggttcttgcc agaaacctta
      481 tgttgcactt attcatggaa ttacaatggg tgggggagtt ggtctctcag tccatgggca
      541 atttcgagtg gctacagaaa agtgtctttt tgctatgcca gaaactgcaa taggactgtt
      601 ccctgatgtg ggtggaggtt atttcttgcc acgactccaa ggaaaacttg gttacttcct
      661 tgcattaaca ggattcagac taaaaggaag agatgtgtac agagcaggaa ttgctacaca
      721 ctttgtagat tctgaaaagt tggccatgtt agaggaagat ttgttagcct tgaaatctcc
      781 ttcaaaagaa aatattgcat ctgtcttaga aaattaccat acagagtcta agattgatcg
      841 agacaagtct tttatacttg aggaacacat ggacaaaata aacagttgtt tttcagccaa
      901 tactgtggaa gaaattattg aaaacttaca gcaagatggt tcatcttttg ccctagagca
      961 attgaaggta attaataaaa tgtctccaac atctctaaag atcacactaa ggcaactcat
     1021 ggaggggtct tcaaagacct tgcaagaagt actaactatg gagtatcggc taagtcaagc
     1081 ttgtatgaga ggtcatgact ttcatgaagg cgttagagct gttttaattg ataaagacca
     1141 gagtccaaaa tggaaaccag ctgatctaaa agaagttact gaggaagatt tgaataatca
     1201 ctttaagtct ttgggaagca gtgatttgaa attttgaggt gacaggcttt taaggtatat
     1261 tttgtagcat gggttggcaa tctacagcat gtgggccaaa tccagcctgc tgcctgtttt
     1321 tatataccct gtaagctaag aatggtttcc gcatttttaa atggttggga aaagaaatca
     1381 aagactaata attcatgacg tgaaaattat cagaattcac aaataaagct ttattggaac
     1441 tagctatact catctgttta tatattatct gtggctgctt tgaaatgagt agttgcaata
     1501 gagatggtaa agcctacaaa gcctaattat ttactgtctg gtttttgtca gaaaaaagtt
     1561 tgtcaatcct tgttttagaa gatggaaaaa tgtgaagatc tttggagatt ctcttgagtg
     1621 gtatatctaa ttgaaatggg atcttcgttt ggcttgtatg ttgatgaaat caacttaggt
     1681 atacaatata aaaaataaag accctgaaaa ttgttttgga tactgtgtta atgcctcata
     1741 gaatttttgt tttggatact gtgttaatgc ctcatagaat tttctccata tatgagtgtg
     1801 ttttaaagta actgagttac tgtagcagaa gagctccttt tataaacatt agaaaccttg
     1861 ggcagagaga aaagattttt attaacgtcc ctcttcagta ttaactcaga cttggtcttc
     1921 cctaaaataa tcagaatacc atcccatggt gaaactgaaa ggattatttt cttgttattt
     1981 gtgatatttg ttaatctggt agaatgagaa attaggaaac tccaatctct tagatagaga
     2041 cactctgttt ttttataatt tacgtaagac ttttgtgtga taattatcct tacaaacaag
     2101 gttcaagtca ggagaaaaaa attaattgaa agcaagaaga cttttgttca aaagatatat
     2161 tcaataattg atattgttaa tgaagtaagt actttttaag gtatgaaaga actaaaaggt
     2221 attccagact cagaacctta aagttctagg caagaataat ttttaaacta aaggtaagtt
     2281 tataaattaa caaagtaaac aaaatttatg attttgtttt ttgtttgtaa tttttgttta
     2341 attttaaagg taagtttata aattaacaaa caaaatttat aattttttgt ttgtaatttt
     2401 tgtttataaa caaaataaat tttttgtaac ttgt
//
