LOCUS       NM_000532               1799 bp    mRNA    linear   PRI 08-OCT-2024
DEFINITION  Homo sapiens propionyl-CoA carboxylase subunit beta (PCCB),
            transcript variant 1, mRNA; nuclear gene for mitochondrial product.
ACCESSION   NM_000532
VERSION     NM_000532.5
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 1799)
  AUTHORS   Kurolap,A., Barel,D., Shaul Lotan,N., Wexler,I., Chai Gadot,C.,
            Mory,A., Barel,O., Almashanu,S. and Baris Feldman,H.
  TITLE     A common benign intronic deletion masking a pathogenic deep
            intronic PCCB variant - genome sequencing and RNA studies to the
            rescue
  JOURNAL   Mol Genet Metab 140 (3), 107702 (2023)
   PUBMED   37776842
  REMARK    GeneRIF: A common benign intronic deletion masking a pathogenic
            deep intronic PCCB variant - genome sequencing and RNA studies to
            the rescue.
REFERENCE   2  (bases 1 to 1799)
  AUTHORS   Zhang,W., Zhang,M., Xu,Z., Yan,H., Wang,H., Jiang,J., Wan,J.,
            Tang,B., Liu,C., Chen,C. and Meng,Q.
  TITLE     Human forebrain organoid-based multi-omics analyses of PCCB as a
            schizophrenia associated gene linked to GABAergic pathways
  JOURNAL   Nat Commun 14 (1), 5176 (2023)
   PUBMED   37620341
  REMARK    GeneRIF: Human forebrain organoid-based multi-omics analyses of
            PCCB as a schizophrenia associated gene linked to GABAergic
            pathways.
            Publication Status: Online-Only
REFERENCE   3  (bases 1 to 1799)
  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   4  (bases 1 to 1799)
  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   5  (bases 1 to 1799)
  AUTHORS   Bychkov,I., Galushkin,A., Filatova,A., Nekrasov,A., Kurkina,M.,
            Baydakova,G., Ilyushkina,A., Skoblov,M. and Zakharova,E.
  TITLE     Functional Analysis of the PCCA and PCCB Gene Variants Predicted to
            Affect Splicing
  JOURNAL   Int J Mol Sci 22 (8), 4154 (2021)
   PUBMED   33923806
  REMARK    GeneRIF: Functional Analysis of the PCCA and PCCB Gene Variants
            Predicted to Affect Splicing.
            Publication Status: Online-Only
REFERENCE   6  (bases 1 to 1799)
  AUTHORS   Galarreta Aima,C.I., Shchelochkov,O.A., Jerves Serrano,T. and
            Venditti,C.P.
  TITLE     Propionic Acidemia
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   22593918
REFERENCE   7  (bases 1 to 1799)
  AUTHORS   Tahara,T., Kraus,J.P. and Rosenberg,L.E.
  TITLE     An unusual insertion/deletion in the gene encoding the beta-subunit
            of propionyl-CoA carboxylase is a frequent mutation in Caucasian
            propionic acidemia
  JOURNAL   Proc Natl Acad Sci U S A 87 (4), 1372-1376 (1990)
   PUBMED   2154743
REFERENCE   8  (bases 1 to 1799)
  AUTHORS   Baumgartner,E.R., Suormala,T.M., Wick,H., Probst,A.,
            Blauenstein,U., Bachmann,C. and Vest,M.
  TITLE     Biotinidase deficiency: a cause of subacute necrotizing
            encephalomyelopathy (Leigh syndrome). Report of a case with lethal
            outcome
  JOURNAL   Pediatr Res 26 (3), 260-266 (1989)
   PUBMED   2587127
REFERENCE   9  (bases 1 to 1799)
  AUTHORS   Waye,J.S., Gravel,R.A. and Willard,H.F.
  TITLE     Two PstI RFLPs in the PCCB gene on the long arm of chromosome 3
  JOURNAL   Nucleic Acids Res 16 (5), 2362 (1988)
   PUBMED   2895916
REFERENCE   10 (bases 1 to 1799)
  AUTHORS   Baumgartner,E.R., Bachmann,C., Brechbuhler,T. and Wick,H.
  TITLE     Acute neonatal nonketotic hyperglycinemia: normal propionate and
            methylmalonate metabolism
  JOURNAL   Pediatr Res 9 (7), 559-564 (1975)
   PUBMED   240144
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from DA090969.1 and BC013768.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Nov 23, 2018 this sequence version replaced NM_000532.4.
            
            Summary: The protein encoded by this gene is a subunit of the
            propionyl-CoA carboxylase (PCC) enzyme, which is involved in the
            catabolism of propionyl-CoA. PCC is a mitochondrial enzyme that
            probably acts as a dodecamer of six alpha subunits and six beta
            subunits. This gene encodes the beta subunit of PCC. Defects in
            this gene are a cause of propionic acidemia type II (PA-2).
            Multiple transcript variants encoding different isoforms have been
            found for this gene.[provided by RefSeq, May 2010].
            
            Transcript Variant: This variant (1) represents the shorter
            transcript and encodes the shorter 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 :: SRR1803616.161574.1,
                                           SRR3476690.610353.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            gene product(s) localized to mito. :: reported by MitoCarta
            MANE Ensembl match                 :: ENST00000251654.9/
                                                  ENSP00000251654.4
            RefSeq Select criteria             :: based on conservation,
                                                  expression
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-529               DA090969.1         16-544
            530-1799            BC013768.1         517-1786
FEATURES             Location/Qualifiers
     source          1..1799
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="3"
                     /map="3q22.3"
     gene            1..1799
                     /gene="PCCB"
                     /note="propionyl-CoA carboxylase subunit beta"
                     /db_xref="GeneID:5096"
                     /db_xref="HGNC:HGNC:8654"
                     /db_xref="MIM:232050"
     exon            1..219
                     /gene="PCCB"
                     /inference="alignment:Splign:2.1.0"
     CDS             37..1656
                     /gene="PCCB"
                     /EC_number="6.4.1.3"
                     /note="isoform 1 precursor is encoded by transcript
                     variant 1; propionyl Coenzyme A carboxylase, beta
                     polypeptide; propionyl-CoA carboxylase beta chain,
                     mitochondrial; PCCase subunit beta; propanoyl-CoA:carbon
                     dioxide ligase subunit beta; propionyl CoA carboxylase,
                     beta polypeptide; propionyl-CoA carboxylase beta subunit"
                     /codon_start=1
                     /product="propionyl-CoA carboxylase beta chain,
                     mitochondrial isoform 1 precursor"
                     /protein_id="NP_000523.2"
                     /db_xref="CCDS:CCDS3089.1"
                     /db_xref="GeneID:5096"
                     /db_xref="HGNC:HGNC:8654"
                     /db_xref="MIM:232050"
                     /translation="MAAALRVAAVGARLSVLASGLRAAVRSLCSQATSVNERIENKRR
                     TALLGGGQRRIDAQHKRGKLTARERISLLLDPGSFVESDMFVEHRCADFGMAADKNKF
                     PGDSVVTGRGRINGRLVYVFSQDFTVFGGSLSGAHAQKICKIMDQAITVGAPVIGLND
                     SGGARIQEGVESLAGYADIFLRNVTASGVIPQISLIMGPCAGGAVYSPALTDFTFMVK
                     DTSYLFITGPDVVKSVTNEDVTQEELGGAKTHTTMSGVAHRAFENDVDALCNLRDFFN
                     YLPLSSQDPAPVRECHDPSDRLVPELDTIVPLESTKAYNMVDIIHSVVDEREFFEIMP
                     NYAKNIIVGFARMNGRTVGIVGNQPKVASGCLDINSSVKGARFVRFCDAFNIPLITFV
                     DVPGFLPGTAQEYGGIIRHGAKLLYAFAEATVPKVTVITRKAYGGAYDVMSSKHLCGD
                     TNYAWPTAEIAVMGAKGAVEIIFKGHENVEAAQAEYIEKFANPFPAAVRGFVDDIIQP
                     SSTRARICCDLDVLASKKVQRPWRKHANIPL"
     exon            220..339
                     /gene="PCCB"
                     /inference="alignment:Splign:2.1.0"
     exon            340..408
                     /gene="PCCB"
                     /inference="alignment:Splign:2.1.0"
     exon            409..465
                     /gene="PCCB"
                     /inference="alignment:Splign:2.1.0"
     exon            466..579
                     /gene="PCCB"
                     /inference="alignment:Splign:2.1.0"
     exon            580..690
                     /gene="PCCB"
                     /inference="alignment:Splign:2.1.0"
     exon            691..799
                     /gene="PCCB"
                     /inference="alignment:Splign:2.1.0"
     exon            800..920
                     /gene="PCCB"
                     /inference="alignment:Splign:2.1.0"
     exon            921..1002
                     /gene="PCCB"
                     /inference="alignment:Splign:2.1.0"
     exon            1003..1126
                     /gene="PCCB"
                     /inference="alignment:Splign:2.1.0"
     exon            1127..1234
                     /gene="PCCB"
                     /inference="alignment:Splign:2.1.0"
     exon            1235..1335
                     /gene="PCCB"
                     /inference="alignment:Splign:2.1.0"
     exon            1336..1434
                     /gene="PCCB"
                     /inference="alignment:Splign:2.1.0"
     exon            1435..1534
                     /gene="PCCB"
                     /inference="alignment:Splign:2.1.0"
     exon            1535..1799
                     /gene="PCCB"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1781..1786
                     /regulatory_class="polyA_signal_sequence"
                     /gene="PCCB"
                     /note="hexamer: ATTAAA"
     polyA_site      1799
                     /gene="PCCB"
                     /note="major polyA site"
ORIGIN      
        1 aggtgcgccg gtaggggacg cgccggcaca gcaaaaatgg cggcggcatt acgggtggcg
       61 gcggtcgggg caaggctcag cgttctggcg agcggtctcc gcgccgcggt ccgcagcctt
      121 tgcagccagg ccacctctgt taacgaacgc atcgaaaaca agcgccggac cgcgctgctg
      181 ggagggggcc aacgccgtat tgacgcgcag cacaagcgag gaaagctaac agccagggag
      241 aggatcagtc tcttgctgga ccctggcagc tttgttgaga gcgacatgtt tgtggaacac
      301 agatgtgcag attttggaat ggctgctgat aagaataagt ttcctggaga cagcgtggtc
      361 actggacgag gccgaatcaa tggaagattg gtttatgtct tcagtcagga ttttacagtt
      421 tttggaggca gtctgtcagg agcacatgcc caaaagatct gcaaaatcat ggaccaggcc
      481 ataacggtgg gggctccagt gattgggctg aatgactctg ggggagcacg gatccaagaa
      541 ggagtggagt ctttggctgg ctatgcagac atctttctga ggaatgttac ggcatccgga
      601 gtcatccctc agatttctct gatcatgggc ccatgtgctg gtggggccgt ctactcccca
      661 gccctaacag acttcacgtt catggtaaag gacacctcct acctgttcat cactggccct
      721 gatgttgtga agtctgtcac caatgaggat gttacccagg aggagctcgg tggtgccaag
      781 acccacacca ccatgtcagg tgtggcccac agagcttttg aaaatgatgt tgatgccttg
      841 tgtaatctcc gggatttctt caactacctg cccctgagca gtcaggaccc ggctcccgtc
      901 cgtgagtgcc acgatcccag tgaccgtctg gttcctgagc ttgacacaat tgtccctttg
      961 gaatcaacca aagcctacaa catggtggac atcatacact ctgttgttga tgagcgtgaa
     1021 ttttttgaga tcatgcccaa ttatgccaag aacatcattg ttggttttgc aagaatgaat
     1081 gggaggactg ttggaattgt tggcaaccaa cctaaggtgg cctcaggatg cttggatatt
     1141 aattcatctg tgaaaggggc tcgttttgtc agattctgtg atgcattcaa tattccactc
     1201 atcacttttg ttgatgtccc tggctttcta cctggcacag cacaggaata cgggggcatc
     1261 atccggcatg gtgccaagct tctctacgca tttgctgagg caactgtacc caaagtcaca
     1321 gtcatcacca ggaaggccta tggaggtgcc tatgatgtca tgagctctaa gcacctttgt
     1381 ggtgatacca actatgcctg gcccaccgca gagattgcag tcatgggagc aaagggcgct
     1441 gtggagatca tcttcaaagg gcatgagaat gtggaagctg ctcaggcaga gtacatcgag
     1501 aagtttgcca accctttccc tgcagcagtg cgagggtttg tggatgacat catccaacct
     1561 tcttccacac gtgcccgaat ctgctgtgac ctggatgtct tggccagcaa gaaggtacaa
     1621 cgtccttgga gaaaacatgc aaatattcca ttgtaaacaa atcaaaggaa aagaaaccaa
     1681 gaactgaatt actgtctgcc cattcacatc ccattcctgc cttttgcaat catgaaacct
     1741 gggaatccaa atagttggat aacttagaat aactaagttt attaaattct agaaagatc
//
