LOCUS       NM_001739               1113 bp    mRNA    linear   PRI 09-FEB-2025
DEFINITION  Homo sapiens carbonic anhydrase 5A (CA5A), transcript variant 1,
            mRNA; nuclear gene for mitochondrial product.
ACCESSION   NM_001739
VERSION     NM_001739.2
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 1113)
  AUTHORS   Aspatwar,A., Supuran,C.T., Waheed,A., Sly,W.S. and Parkkila,S.
  TITLE     Mitochondrial carbonic anhydrase VA and VB: properties and roles in
            health and disease
  JOURNAL   J Physiol 601 (2), 257-274 (2023)
   PUBMED   36464834
  REMARK    GeneRIF: Mitochondrial carbonic anhydrase VA and VB: properties and
            roles in health and disease.
            Review article
REFERENCE   2  (bases 1 to 1113)
  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 1113)
  AUTHORS   Diez-Fernandez,C., Rufenacht,V., Santra,S., Lund,A.M., Santer,R.,
            Lindner,M., Tangeraas,T., Unsinn,C., de Lonlay,P., Burlina,A., van
            Karnebeek,C.D. and Haberle,J.
  TITLE     Defective hepatic bicarbonate production due to carbonic anhydrase
            VA deficiency leads to early-onset life-threatening metabolic
            crisis
  JOURNAL   Genet Med 18 (10), 991-1000 (2016)
   PUBMED   26913920
  REMARK    GeneRIF: In 10 of 96 patients, mutations in CA5A were identified on
            both alleles but none in CA5B. Exhibiting decreased enzyme activity
            or thermal stability, all CAVA mutations were proven to cause
            disease, whereas the three variants showed no relevant effect
            Erratum:[Genet Med. 2016 Jun;18(6):649. doi: 10.1038/gim.2016.46..
            PMID: 27304993]
REFERENCE   4  (bases 1 to 1113)
  AUTHORS   van Karnebeek,C.D., Sly,W.S., Ross,C.J., Salvarinova,R.,
            Yaplito-Lee,J., Santra,S., Shyr,C., Horvath,G.A., Eydoux,P.,
            Lehman,A.M., Bernard,V., Newlove,T., Ukpeh,H., Chakrapani,A.,
            Preece,M.A., Ball,S., Pitt,J., Vallance,H.D., Coulter-Mackie,M.,
            Nguyen,H., Zhang,L.H., Bhavsar,A.P., Sinclair,G., Waheed,A.,
            Wasserman,W.W. and Stockler-Ipsiroglu,S.
  TITLE     Mitochondrial carbonic anhydrase VA deficiency resulting from CA5A
            alterations presents with hyperammonemia in early childhood
  JOURNAL   Am J Hum Genet 94 (3), 453-461 (2014)
   PUBMED   24530203
  REMARK    GeneRIF: CA5A alterations cause hyperammonemia in early childhood
            that result in mitochondrial carbonic anhydrase VA deficiency
REFERENCE   5  (bases 1 to 1113)
  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   6  (bases 1 to 1113)
  AUTHORS   Saarnio,J., Parkkila,S., Parkkila,A.K., Waheed,A., Karttunen,T. and
            Sly,W.S.
  TITLE     Cell-specific expression of mitochondrial carbonic anhydrase in the
            human and rat gastrointestinal tract
  JOURNAL   J Histochem Cytochem 47 (4), 517-524 (1999)
   PUBMED   10082753
REFERENCE   7  (bases 1 to 1113)
  AUTHORS   Parkkila,A.K., Scarim,A.L., Parkkila,S., Waheed,A., Corbett,J.A.
            and Sly,W.S.
  TITLE     Expression of carbonic anhydrase V in pancreatic beta cells
            suggests role for mitochondrial carbonic anhydrase in insulin
            secretion
  JOURNAL   J Biol Chem 273 (38), 24620-24623 (1998)
   PUBMED   9733757
REFERENCE   8  (bases 1 to 1113)
  AUTHORS   Nagao,Y., Batanian,J.R., Clemente,M.F. and Sly,W.S.
  TITLE     Genomic organization of the human gene (CA5) and pseudogene for
            mitochondrial carbonic anhydrase V and their localization to
            chromosomes 16q and 16p
  JOURNAL   Genomics 28 (3), 477-484 (1995)
   PUBMED   7490083
REFERENCE   9  (bases 1 to 1113)
  AUTHORS   Nagao,Y., Platero,J.S., Waheed,A. and Sly,W.S.
  TITLE     Human mitochondrial carbonic anhydrase: cDNA cloning, expression,
            subcellular localization, and mapping to chromosome 16
  JOURNAL   Proc Natl Acad Sci U S A 90 (16), 7623-7627 (1993)
   PUBMED   8356065
REFERENCE   10 (bases 1 to 1113)
  AUTHORS   van Karnebeek,C. and Haberle,J.
  TITLE     Carbonic Anhydrase VA Deficiency
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   25834911
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from BJ996241.1, L19297.1 and
            AC133539.2.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Sep 4, 2018 this sequence version replaced NM_001739.1.
            
            Summary:  Carbonic anhydrases (CAs) are a large family of zinc
            metalloenzymes that catalyze the reversible hydration of carbon
            dioxide.  They participate in a variety of biological processes,
            including respiration, calcification, acid-base balance, bone
            resorption, and the formation of aqueous humor, cerebrospinal
            fluid, saliva, and gastric acid.  They show extensive diversity in
            tissue distribution and in their subcellular localization.  CA VA
            is localized in the mitochondria and expressed primarily in the
            liver.  It may play an important role in ureagenesis and
            gluconeogenesis.  CA5A gene maps to chromosome 16q24.3 and an
            unprocessed pseudogene has been assigned to 16p12-p11.2. [provided
            by RefSeq, Jul 2008].
            
            Transcript Variant: This variant (1) 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 :: DRR138522.28042.1, L19297.1
                                           [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMN04284274 [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            gene product(s) localized to mito. :: reported by MitoCarta
            MANE Ensembl match                 :: ENST00000649794.3/
                                                  ENSP00000498065.2
            RefSeq Select criteria             :: based on conservation,
                                                  expression, longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-24                BJ996241.1         1-24
            25-1107             L19297.1           1-1083
            1108-1113           AC133539.2         65425-65430
FEATURES             Location/Qualifiers
     source          1..1113
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="16"
                     /map="16q24.2"
     gene            1..1113
                     /gene="CA5A"
                     /gene_synonym="CA5; CA5AD; CAV; CAVA; GS1-21A4.1"
                     /note="carbonic anhydrase 5A"
                     /db_xref="GeneID:763"
                     /db_xref="HGNC:HGNC:1377"
                     /db_xref="MIM:114761"
     exon            1..221
                     /gene="CA5A"
                     /gene_synonym="CA5; CA5AD; CAV; CAVA; GS1-21A4.1"
                     /inference="alignment:Splign:2.1.0"
     CDS             80..997
                     /gene="CA5A"
                     /gene_synonym="CA5; CA5AD; CAV; CAVA; GS1-21A4.1"
                     /EC_number="4.2.1.1"
                     /note="isoform 1 precursor is encoded by transcript
                     variant 1; carbonic dehydratase; carbonic anhydrase V,
                     mitochondrial; carbonic anhydrase 5A, mitochondrial;
                     CA-VA; carbonate dehydratase VA; carbonic anhydrase VA,
                     mitochondrial"
                     /codon_start=1
                     /product="carbonic anhydrase 5A, mitochondrial isoform 1
                     precursor"
                     /protein_id="NP_001730.1"
                     /db_xref="CCDS:CCDS10965.1"
                     /db_xref="GeneID:763"
                     /db_xref="HGNC:HGNC:1377"
                     /db_xref="MIM:114761"
                     /translation="MLGRNTWKTSAFSFLVEQMWAPLWSRSMRPGRWCSQRSCAWQTS
                     NNTLHPLWTVPVSVPGGTRQSPINIQWRDSVYDPQLKPLRVSYEAASCLYIWNTGYLF
                     QVEFDDATEASGISGGPLENHYRLKQFHFHWGAVNEGGSEHTVDGHAYPAELHLVHWN
                     SVKYQNYKEAVVGENGLAVIGVFLKLGAHHQTLQRLVDILPEIKHKDARAAMRPFDPS
                     TLLPTCWDYWTYAGSLTTPPLTESVTWIIQKEPVEVAPSQLSAFRTLLFSALGEEEKM
                     MVNNYRPLQPLMNRKVWASFQATNEGTRS"
     exon            222..419
                     /gene="CA5A"
                     /gene_synonym="CA5; CA5AD; CAV; CAVA; GS1-21A4.1"
                     /inference="alignment:Splign:2.1.0"
     exon            420..538
                     /gene="CA5A"
                     /gene_synonym="CA5; CA5AD; CAV; CAVA; GS1-21A4.1"
                     /inference="alignment:Splign:2.1.0"
     exon            539..634
                     /gene="CA5A"
                     /gene_synonym="CA5; CA5AD; CAV; CAVA; GS1-21A4.1"
                     /inference="alignment:Splign:2.1.0"
     exon            635..697
                     /gene="CA5A"
                     /gene_synonym="CA5; CA5AD; CAV; CAVA; GS1-21A4.1"
                     /inference="alignment:Splign:2.1.0"
     exon            698..853
                     /gene="CA5A"
                     /gene_synonym="CA5; CA5AD; CAV; CAVA; GS1-21A4.1"
                     /inference="alignment:Splign:2.1.0"
     exon            854..1113
                     /gene="CA5A"
                     /gene_synonym="CA5; CA5AD; CAV; CAVA; GS1-21A4.1"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1091..1096
                     /regulatory_class="polyA_signal_sequence"
                     /gene="CA5A"
                     /gene_synonym="CA5; CA5AD; CAV; CAVA; GS1-21A4.1"
                     /note="hexamer: ATTAAA"
     polyA_site      1113
                     /gene="CA5A"
                     /gene_synonym="CA5; CA5AD; CAV; CAVA; GS1-21A4.1"
                     /note="major polyA site"
ORIGIN      
        1 agtggtcctg atcaaagtga gaacagacag cagggaacat caccctcttc agactggagt
       61 cagtgggaac agacccaaga tgttggggag gaacacttgg aagacctcag ctttctcctt
      121 cttggttgag cagatgtggg cccctctctg gagtcgttcg atgaggccag ggcgatggtg
      181 ttctcagcgt tcctgtgcat ggcaaaccag caataacact ttgcacccac tctggacggt
      241 cccggtctcc gtgccagggg gcacccggca gtctcctatt aacatccagt ggagggacag
      301 cgtctatgac ccccagctga agccactcag ggtctcctat gaagcggcat cctgcctgta
      361 catctggaac actggctacc tcttccaggt ggaatttgac gatgccaccg aggcatcagg
      421 aattagtggt gggcccttgg aaaaccacta cagactgaag caatttcact tccactgggg
      481 agcagtgaac gaggggggct cagagcacac agtggacggc cacgcgtacc ccgcagagct
      541 gcatttagtt cactggaatt ctgtgaaata ccaaaattac aaggaagctg tcgtgggaga
      601 gaatggtttg gctgtgatag gcgtgttttt aaagctcggg gcccatcatc agacgctgca
      661 gaggctggtg gacatcttgc cggaaataaa acataaggac gcgcgggcgg ccatgcgccc
      721 cttcgacccc tccactctgc tgcccacctg ctgggattac tggacctacg cgggctcgct
      781 caccaccccg ccgctgaccg agtcggtcac ctggatcatc cagaaggagc ccgttgaagt
      841 ggccccaagc cagctctctg catttcgtac tctcctgttt tctgcacttg gtgaagagga
      901 gaagatgatg gtgaacaact atcgcccact tcaacccttg atgaaccgga aggtctgggc
      961 gtccttccag gccactaatg agggcacaag gtcctagaga cattaggtcc acatgaatag
     1021 cagaactgac tttgaaggaa ggaagcgttg tttcccaagt ttcacaatgt gattgtacat
     1081 gacttctgaa attaaaaaga gagcatgagg tta
//
