LOCUS       NM_001128831            1830 bp    mRNA    linear   PRI 06-APR-2024
DEFINITION  Homo sapiens carbonic anhydrase 1 (CA1), transcript variant 4,
            mRNA.
ACCESSION   NM_001128831
VERSION     NM_001128831.4
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 1830)
  AUTHORS   Li,S., An,L., Ferraris Araneta,M., Victorino,M., Johnson,C.S. and
            Shen,J.
  TITLE     Carbonic anhydrase activity in the frontal lobe of human brain
  JOURNAL   NMR Biomed 34 (6), e4501 (2021)
   PUBMED   33682938
  REMARK    GeneRIF: Carbonic anhydrase activity in the frontal lobe of human
            brain.
REFERENCE   2  (bases 1 to 1830)
  AUTHORS   Cabaleiro-Lago,C. and Lundqvist,M.
  TITLE     The Effect of Nanoparticles on the Structure and Enzymatic Activity
            of Human Carbonic Anhydrase I and II
  JOURNAL   Molecules 25 (19), 4405 (2020)
   PUBMED   32992797
  REMARK    GeneRIF: The Effect of Nanoparticles on the Structure and Enzymatic
            Activity of Human Carbonic Anhydrase I and II.
            Review article
            Publication Status: Online-Only
REFERENCE   3  (bases 1 to 1830)
  AUTHORS   Liu,Z., Bai,Y., Xie,F., Miao,F. and Du,F.
  TITLE     Comprehensive Analysis for Identifying Diagnostic and Prognostic
            Biomarkers in Colon Adenocarcinoma
  JOURNAL   DNA Cell Biol 39 (4), 599-614 (2020)
   PUBMED   32031891
  REMARK    GeneRIF: carbonic anhydrase 1 (CA1) and CA4 were identified as
            potential biomarkers of Colon adenocarcinoma due to their
            predictive roles in diagnosis and prognosis, and the results were
            further confirmed by a series of analyses.
REFERENCE   4  (bases 1 to 1830)
  AUTHORS   Lakota,J. and Dubrovcakova,M.
  TITLE     Overexpression of CA1 mRNA and the CA I Protein in Tumor Cells Does
            Not Change the Gene Expression of the ECM Proteins
  JOURNAL   Int J Mol Sci 21 (2), 639 (2020)
   PUBMED   31963697
  REMARK    GeneRIF: Overexpression of CA1 mRNA and the CA I Protein in Tumor
            Cells Does Not Change the Gene Expression of the ECM Proteins.
            Publication Status: Online-Only
REFERENCE   5  (bases 1 to 1830)
  AUTHORS   Dawson,S.J. and White,L.A.
  TITLE     Treatment of Haemophilus aphrophilus endocarditis with
            ciprofloxacin
  JOURNAL   J Infect 24 (3), 317-320 (1992)
   PUBMED   1602151
REFERENCE   6  (bases 1 to 1830)
  AUTHORS   Brady,H.J., Lowe,N., Sowden,J.C., Edwards,M. and Butterworth,P.H.
  TITLE     The human carbonic anhydrase I gene has two promoters with
            different tissue specificities
  JOURNAL   Biochem J 277 (Pt 3) (Pt 3), 903-905 (1991)
   PUBMED   1908227
REFERENCE   7  (bases 1 to 1830)
  AUTHORS   Lowe,N., Brady,H.J., Barlow,J.H., Sowden,J.C., Edwards,M. and
            Butterworth,P.H.
  TITLE     Structure and methylation patterns of the gene encoding human
            carbonic anhydrase I
  JOURNAL   Gene 93 (2), 277-283 (1990)
   PUBMED   2121614
REFERENCE   8  (bases 1 to 1830)
  AUTHORS   Kendall,A.G. and Tashian,R.E.
  TITLE     Erythrocyte carbonic anhydrase I: inherited deficiency in humans
  JOURNAL   Science 197 (4302), 471-472 (1977)
   PUBMED   406674
REFERENCE   9  (bases 1 to 1830)
  AUTHORS   Tashian,R.E. and Carter,N.D.
  TITLE     Biochemical genetics of carbonic anhydrase
  JOURNAL   Adv Hum Genet 7, 1-56 (1976)
   PUBMED   827930
  REMARK    Review article
REFERENCE   10 (bases 1 to 1830)
  AUTHORS   Kannan,K.K., Notstrand,B., Fridborg,K., Lovgren,S., Ohlsson,A. and
            Petef,M.
  TITLE     Crystal structure of human erythrocyte carbonic anhydrase B.
            Three-dimensional structure at a nominal 2.2-A resolution
  JOURNAL   Proc Natl Acad Sci U S A 72 (1), 51-55 (1975)
   PUBMED   804171
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from BU663330.1, BC027890.1,
            AI802646.1 and AC025800.10.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Jun 2, 2019 this sequence version replaced NM_001128831.3.
            
            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. This CA1
            gene is closely linked to the CA2 and CA3 genes on chromosome 8. It
            encodes a cytosolic protein that is found at the highest level in
            erythrocytes. Allelic variants of this gene have been described in
            some populations. Alternative splicing and the use of alternative
            promoters results in multiple transcript variants. [provided by
            RefSeq, Nov 2016].
            
            Transcript Variant: This variant (4) differs in the 5' UTR compared
            to variant 3. Variants 1, 2, 3, 4 and 5 all encode isoform a. This
            variant represents use of an upstream long terminal repeat (LTR)
            promoter and exon sequence, and results in erythroid expression.
            (PMID: 1908227).
            
            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##
            CDS exon combination :: GQ891527.1, BC027890.1 [ECO:0000331]
            RNAseq introns       :: single sample supports all introns
                                    SAMEA2163105 [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000523022.6/ ENSP00000429798.1
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-8                 BU663330.1         52-59
            9-1208              BC027890.1         1-1200
            1209-1209           AI802646.1         16-16               c
            1210-1830           AC025800.10        74890-75510
FEATURES             Location/Qualifiers
     source          1..1830
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="8"
                     /map="8q21.2"
     gene            1..1830
                     /gene="CA1"
                     /gene_synonym="CA-I; CAB; Car1; HEL-S-11"
                     /note="carbonic anhydrase 1"
                     /db_xref="GeneID:759"
                     /db_xref="HGNC:HGNC:1368"
                     /db_xref="MIM:114800"
     exon            1..68
                     /gene="CA1"
                     /gene_synonym="CA-I; CAB; Car1; HEL-S-11"
                     /inference="alignment:Splign:2.1.0"
     exon            69..129
                     /gene="CA1"
                     /gene_synonym="CA-I; CAB; Car1; HEL-S-11"
                     /inference="alignment:Splign:2.1.0"
     CDS             93..878
                     /gene="CA1"
                     /gene_synonym="CA-I; CAB; Car1; HEL-S-11"
                     /EC_number="4.2.1.1"
                     /EC_number="4.2.1.69"
                     /note="isoform a is encoded by transcript variant 4;
                     carbonic anhydrase B; carbonic anhydrase I; carbonate
                     dehydratase I; epididymis secretory protein Li 11;
                     epididymis secretory sperm binding protein; cyanamide
                     hydratase CA1"
                     /codon_start=1
                     /product="carbonic anhydrase 1 isoform a"
                     /protein_id="NP_001122303.1"
                     /db_xref="CCDS:CCDS6237.1"
                     /db_xref="GeneID:759"
                     /db_xref="HGNC:HGNC:1368"
                     /db_xref="MIM:114800"
                     /translation="MASPDWGYDDKNGPEQWSKLYPIANGNNQSPVDIKTSETKHDTS
                     LKPISVSYNPATAKEIINVGHSFHVNFEDNDNRSVLKGGPFSDSYRLFQFHFHWGSTN
                     EHGSEHTVDGVKYSAELHVAHWNSAKYSSLAEAASKADGLAVIGVLMKVGEANPKLQK
                     VLDALQAIKTKGKRAPFTNFDPSTLLPSSLDFWTYPGSLTHPPLYESVTWIICKESIS
                     VSSEQLAQFRSLLSNVEGDNAVPMQHNNRPTQPLKGRTVRASF"
     exon            130..327
                     /gene="CA1"
                     /gene_synonym="CA-I; CAB; Car1; HEL-S-11"
                     /inference="alignment:Splign:2.1.0"
     exon            328..446
                     /gene="CA1"
                     /gene_synonym="CA-I; CAB; Car1; HEL-S-11"
                     /inference="alignment:Splign:2.1.0"
     exon            447..542
                     /gene="CA1"
                     /gene_synonym="CA-I; CAB; Car1; HEL-S-11"
                     /inference="alignment:Splign:2.1.0"
     exon            543..605
                     /gene="CA1"
                     /gene_synonym="CA-I; CAB; Car1; HEL-S-11"
                     /inference="alignment:Splign:2.1.0"
     exon            606..761
                     /gene="CA1"
                     /gene_synonym="CA-I; CAB; Car1; HEL-S-11"
                     /inference="alignment:Splign:2.1.0"
     exon            762..1830
                     /gene="CA1"
                     /gene_synonym="CA-I; CAB; Car1; HEL-S-11"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1187..1192
                     /regulatory_class="polyA_signal_sequence"
                     /gene="CA1"
                     /gene_synonym="CA-I; CAB; Car1; HEL-S-11"
                     /note="hexamer: AATAAA"
     polyA_site      1209
                     /gene="CA1"
                     /gene_synonym="CA-I; CAB; Car1; HEL-S-11"
                     /note="major polyA site"
ORIGIN      
        1 gtggtaccca gtcctcaggt gcaaccccct gcgtggtcct ctgtggcagc cttctctcat
       61 tcagagctaa aaagaaaact cagtagaaga taatggcaag tccagactgg ggatatgatg
      121 acaaaaatgg tcctgaacaa tggagcaagc tgtatcccat tgccaatgga aataaccagt
      181 cccctgttga tattaaaacc agtgaaacca aacatgacac ctctctgaaa cctattagtg
      241 tctcctacaa cccagccaca gccaaagaaa ttatcaatgt ggggcattcc ttccatgtaa
      301 attttgagga caacgataac cgatcagtgc tgaaaggtgg tcctttctct gacagctaca
      361 ggctctttca gttccatttt cactggggca gtacaaatga gcatggttca gaacatacag
      421 tggatggagt caaatattct gccgagcttc acgtagctca ctggaattct gcaaagtact
      481 ccagccttgc tgaagctgcc tcaaaggctg atggtttggc agttattggt gttttgatga
      541 aggttggtga ggccaaccca aagctgcaga aagtacttga tgccctccaa gcaattaaaa
      601 ccaagggcaa acgagcccca ttcacaaatt ttgacccctc tactctcctt ccttcatccc
      661 tggatttctg gacctaccct ggctctctga ctcatcctcc tctttatgag agtgtaactt
      721 ggatcatctg taaggagagc atcagtgtca gctcagagca gctggcacaa ttccgcagcc
      781 ttctatcaaa tgttgaaggt gataacgctg tccccatgca gcacaacaac cgcccaaccc
      841 aacctctgaa gggcagaaca gtgagagctt cattttgatg attctgagaa gaaacttgtc
      901 cttcctcaag aacacagccc tgcttctgac ataatccagt aaaataataa tttttaagaa
      961 ataaatttat ttcaatatta gcaagacagc atgccttcaa atcaatctgt aaaactaaga
     1021 aacttaaatt ttagttctta ctgcttaatt caaataataa ttagtaagct agcaaatagt
     1081 aatctgtaag cataagctta tgcttaaatt caagtttagt ttgaggaatt ctttaaaatt
     1141 acaactaagt gatttgtatg tctatttttt tcagtttatt tgaaccaata aaataatttt
     1201 atctctttct ttctgttgtg cattcagttt ctaaaaccat taagtttcta ctccatttac
     1261 attcaaaaat cttaaatact ttacttgcaa gagtattttg cttcaaatac aacaacctaa
     1321 gagcagctgg agatgaaata ttgggaaatt catttgctta ctcctgaaga caaaaatata
     1381 gctgagatga ccactggatt taatatcgtt atgctggccc aacattgcta ccatttgtgt
     1441 tgtctgtgat caaaatgatt atcttttata taggaagatg acgcttctgg atattgcttt
     1501 cacttcttct ccccacgtta gcaaggacaa tgcttctctg ccattattac aactagttag
     1561 tttgcatgga gaatctttac tttaaaattg gaagaaaagt cacaagtgaa tggtttataa
     1621 aaatgctaaa gaagtcattc ttgcttagaa tcatatagaa acatcatgca atcttttagt
     1681 cagatgtgcg cttcacctta tgctattttt atctttaatt gacacacaat aattgtacat
     1741 gtttatggag tatagtgtgg tgttttctgt ttgtttgttt gttttttgag acaaggtctc
     1801 actctgccag tcagggtgga gtgcgatggt
//
