LOCUS       NM_012113               1788 bp    mRNA    linear   PRI 17-APR-2022
DEFINITION  Homo sapiens carbonic anhydrase 14 (CA14), mRNA.
ACCESSION   NM_012113
VERSION     NM_012113.3
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 1788)
  CONSRTM   Schizophrenia Working Group of the Psychiatric Genomics Consortium
  TITLE     Biological insights from 108 schizophrenia-associated genetic loci
  JOURNAL   Nature 511 (7510), 421-427 (2014)
   PUBMED   25056061
REFERENCE   2  (bases 1 to 1788)
  AUTHORS   Alterio V, Pan P, Parkkila S, Buonanno M, Supuran CT, Monti SM and
            De Simone G.
  TITLE     The structural comparison between membrane-associated human
            carbonic anhydrases provides insights into drug design of selective
            inhibitors
  JOURNAL   Biopolymers 101 (7), 769-778 (2014)
   PUBMED   24374484
  REMARK    GeneRIF: Data indicate that carbonic anhydrase isoform XIV (hCA
            XIV) shows high sequence identity with the other
            membrane-associated carbonic anhydrases (hCAs).
REFERENCE   3  (bases 1 to 1788)
  AUTHORS   Gitto R, Agnello S, Ferro S, De Luca L, Vullo D, Brynda J, Mader P,
            Supuran CT and Chimirri A.
  TITLE     Identification of 3,4-Dihydroisoquinoline-2(1H)-sulfonamides as
            potent carbonic anhydrase inhibitors: synthesis, biological
            evaluation, and enzyme--ligand X-ray studies
  JOURNAL   J. Med. Chem. 53 (6), 2401-2408 (2010)
   PUBMED   20170095
  REMARK    GeneRIF: Results indicate that some derivatives showed potent hCA
            IX and hCA XIV inhibitory effects at nanomolar concentrations as
            well as low affinity for the ubiquitous hCA II.
REFERENCE   4  (bases 1 to 1788)
  AUTHORS   Katzir Z, Dinour D, Reznik-Wolf H, Nissenkorn A and Holtzman E.
  TITLE     Familial pure proximal renal tubular acidosis--a clinical and
            genetic study
  JOURNAL   Nephrol. Dial. Transplant. 23 (4), 1211-1215 (2008)
   PUBMED   17881426
  REMARK    GeneRIF: No mutation was found in the coding regions and
            intron-exon boundaries of the genes for CA II, CA IV, CA XIV,
            kNCB1, NHE3, NHE8, NHRF1, NHRF2 and SLC26A6 amplified from genomic
            DNA of family members with pRTA.
REFERENCE   5  (bases 1 to 1788)
  AUTHORS   Clark HF, Gurney AL, Abaya E, Baker K, Baldwin D, Brush J, Chen J,
            Chow B, Chui C, Crowley C, Currell B, Deuel B, Dowd P, Eaton D,
            Foster J, Grimaldi C, Gu Q, Hass PE, Heldens S, Huang A, Kim HS,
            Klimowski L, Jin Y, Johnson S, Lee J, Lewis L, Liao D, Mark M,
            Robbie E, Sanchez C, Schoenfeld J, Seshagiri S, Simmons L, Singh J,
            Smith V, Stinson J, Vagts A, Vandlen R, Watanabe C, Wieand D, Woods
            K, Xie MH, Yansura D, Yi S, Yu G, Yuan J, Zhang M, Zhang Z, Goddard
            A, Wood WI, Godowski P and Gray A.
  TITLE     The secreted protein discovery initiative (SPDI), a large-scale
            effort to identify novel human secreted and transmembrane proteins:
            a bioinformatics assessment
  JOURNAL   Genome Res. 13 (10), 2265-2270 (2003)
   PUBMED   12975309
  REMARK    Erratum:[Genome Res. 2003 Dec;13(12):2759]
REFERENCE   6  (bases 1 to 1788)
  AUTHORS   Tarun AS, Bryant B, Zhai W, Solomon C and Shusterman D.
  TITLE     Gene expression for carbonic anhydrase isoenzymes in human nasal
            mucosa
  JOURNAL   Chem. Senses 28 (7), 621-629 (2003)
   PUBMED   14578124
REFERENCE   7  (bases 1 to 1788)
  AUTHORS   Juel C, Lundby C, Sander M, Calbet JA and Hall Gv.
  TITLE     Human skeletal muscle and erythrocyte proteins involved in
            acid-base homeostasis: adaptations to chronic hypoxia
  JOURNAL   J. Physiol. (Lond.) 548 (Pt 2), 639-648 (2003)
   PUBMED   12611920
REFERENCE   8  (bases 1 to 1788)
  AUTHORS   Kaunisto K, Parkkila S, Rajaniemi H, Waheed A, Grubb J and Sly WS.
  TITLE     Carbonic anhydrase XIV: luminal expression suggests key role in
            renal acidification
  JOURNAL   Kidney Int. 61 (6), 2111-2118 (2002)
   PUBMED   12028451
REFERENCE   9  (bases 1 to 1788)
  AUTHORS   Parkkila S, Parkkila AK, Rajaniemi H, Shah GN, Grubb JH, Waheed A
            and Sly WS.
  TITLE     Expression of membrane-associated carbonic anhydrase XIV on neurons
            and axons in mouse and human brain
  JOURNAL   Proc. Natl. Acad. Sci. U.S.A. 98 (4), 1918-1923 (2001)
   PUBMED   11172051
REFERENCE   10 (bases 1 to 1788)
  AUTHORS   Fujikawa-Adachi K, Nishimori I, Taguchi T and Onishi S.
  TITLE     Human carbonic anhydrase XIV (CA14): cDNA cloning, mRNA expression,
            and mapping to chromosome 1
  JOURNAL   Genomics 61 (1), 74-81 (1999)
   PUBMED   10512682
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from BP361793.1, AK315469.1 and
            AB025904.1.
            
            On Nov 22, 2018 this sequence version replaced NM_012113.2.
            
            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 XIV
            is predicted to be a type I membrane protein and shares highest
            sequence similarity with the other transmembrane CA isoform, CA
            XII; however, they have different patterns of tissue-specific
            expression and thus may play different physiologic roles. [provided
            by RefSeq, Jul 2008].
            
            ##Evidence-Data-START##
            Transcript exon combination :: AK074765.1, SRR1803614.78771.1
                                           [ECO:0000332]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000369111.9/ ENSP00000358107.3
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-40                BP361793.1         32-71
            41-1369             AK315469.1         4-1332
            1370-1788           AB025904.1         1324-1742
FEATURES             Location/Qualifiers
     source          1..1788
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /map="1q21.2"
     gene            1..1788
                     /gene="CA14"
                     /gene_synonym="CAXiV"
                     /note="carbonic anhydrase 14"
                     /db_xref="GeneID:23632"
                     /db_xref="HGNC:HGNC:1372"
                     /db_xref="MIM:604832"
     exon            1..410
                     /gene="CA14"
                     /gene_synonym="CAXiV"
                     /inference="alignment:Splign:2.1.0"
     CDS             356..1369
                     /gene="CA14"
                     /gene_synonym="CAXiV"
                     /EC_number="4.2.1.1"
                     /note="CA-XIV; carbonic anhydrase XIV; carbonic
                     dehydratase; carbonate dehydratase XIV"
                     /codon_start=1
                     /product="carbonic anhydrase 14 precursor"
                     /protein_id="NP_036245.1"
                     /db_xref="CCDS:CCDS947.1"
                     /db_xref="GeneID:23632"
                     /db_xref="HGNC:HGNC:1372"
                     /db_xref="MIM:604832"
                     /translation="MLFSALLLEVIWILAADGGQHWTYEGPHGQDHWPASYPECGNNA
                     QSPIDIQTDSVTFDPDLPALQPHGYDQPGTEPLDLHNNGHTVQLSLPSTLYLGGLPRK
                     YVAAQLHLHWGQKGSPGGSEHQINSEATFAELHIVHYDSDSYDSLSEAAERPQGLAVL
                     GILIEVGETKNIAYEHILSHLHEVRHKDQKTSVPPFNLRELLPKQLGQYFRYNGSLTT
                     PPCYQSVLWTVFYRRSQISMEQLEKLQGTLFSTEEEPSKLLVQNYRALQPLNQRMVFA
                     SFIQAGSSYTTGEMLSLGVGILVGCLCLLLAVYFIARKIRKKRLENRKSVVFTSAQAT
                     TEA"
     exon            411..431
                     /gene="CA14"
                     /gene_synonym="CAXiV"
                     /inference="alignment:Splign:2.1.0"
     exon            432..611
                     /gene="CA14"
                     /gene_synonym="CAXiV"
                     /inference="alignment:Splign:2.1.0"
     exon            612..754
                     /gene="CA14"
                     /gene_synonym="CAXiV"
                     /inference="alignment:Splign:2.1.0"
     exon            755..850
                     /gene="CA14"
                     /gene_synonym="CAXiV"
                     /inference="alignment:Splign:2.1.0"
     exon            851..917
                     /gene="CA14"
                     /gene_synonym="CAXiV"
                     /inference="alignment:Splign:2.1.0"
     exon            918..1075
                     /gene="CA14"
                     /gene_synonym="CAXiV"
                     /inference="alignment:Splign:2.1.0"
     exon            1076..1196
                     /gene="CA14"
                     /gene_synonym="CAXiV"
                     /inference="alignment:Splign:2.1.0"
     exon            1197..1217
                     /gene="CA14"
                     /gene_synonym="CAXiV"
                     /inference="alignment:Splign:2.1.0"
     exon            1218..1302
                     /gene="CA14"
                     /gene_synonym="CAXiV"
                     /inference="alignment:Splign:2.1.0"
     exon            1303..1788
                     /gene="CA14"
                     /gene_synonym="CAXiV"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1769..1774
                     /regulatory_class="polyA_signal_sequence"
                     /gene="CA14"
                     /gene_synonym="CAXiV"
                     /note="hexamer: ATTAAA"
     polyA_site      1788
                     /gene="CA14"
                     /gene_synonym="CAXiV"
                     /note="major polyA site"
ORIGIN      
        1 agcacccccg tccccacata caccagttca gagccacctt aaaagcagga ggcagttgta
       61 aagtcgctgg ccagctagtg gagtggagac tgcagaggga gataaagaga gagggcaaag
      121 aggcagcaag agatttgtcc tggggatcca gaaacccatg ataccctact gaacaccgaa
      181 tcccctggaa gcccacagag acagagacag caagagaagc agagataaat acactcacgc
      241 caggagctcg ctcgctctct ctctctctct ctcactcctc cctccctctc tctctgcctg
      301 tcctagtcct ctagtcctca aattcccagt cccctgcacc ccttcctggg acactatgtt
      361 gttctccgcc ctcctgctgg aggtgatttg gatcctggct gcagatgggg gtcaacactg
      421 gacgtatgag ggcccacatg gtcaggacca ttggccagcc tcttaccctg agtgtggaaa
      481 caatgcccag tcgcccatcg atattcagac agacagtgtg acatttgacc ctgatttgcc
      541 tgctctgcag ccccacggat atgaccagcc tggcaccgag cctttggacc tgcacaacaa
      601 tggccacaca gtgcaactct ctctgccctc taccctgtat ctgggtggac ttccccgaaa
      661 atatgtagct gcccagctcc acctgcactg gggtcagaaa ggatccccag gggggtcaga
      721 acaccagatc aacagtgaag ccacatttgc agagctccac attgtacatt atgactctga
      781 ttcctatgac agcttgagtg aggctgctga gaggcctcag ggcctggctg tcctgggcat
      841 cctaattgag gtgggtgaga ctaagaatat agcttatgaa cacattctga gtcacttgca
      901 tgaagtcagg cataaagatc agaagacctc agtgcctccc ttcaacctaa gagagctgct
      961 ccccaaacag ctggggcagt acttccgcta caatggctcg ctcacaactc ccccttgcta
     1021 ccagagtgtg ctctggacag ttttttatag aaggtcccag atttcaatgg aacagctgga
     1081 aaagcttcag gggacattgt tctccacaga agaggagccc tctaagcttc tggtacagaa
     1141 ctaccgagcc cttcagcctc tcaatcagcg catggtcttt gcttctttca tccaagcagg
     1201 atcctcgtat accacaggtg aaatgctgag tctaggtgta ggaatcttgg ttggctgtct
     1261 ctgccttctc ctggctgttt atttcattgc tagaaagatt cggaagaaga ggctggaaaa
     1321 ccgaaagagt gtggtcttca cctcagcaca agccacgact gaggcataaa ttccttctca
     1381 gataccatgg atgtggatga cttcccttca tgcctatcag gaagcctcta aaatggggtg
     1441 taggatctgg ccagaaacac tgtaggagta gtaagcagat gtcctccttc ccctggacat
     1501 ctcctagaga ggaatggacc caggctgtca ttccaggaag aactgcagag ccttcagcct
     1561 ctccaaacat gtaggaggaa atgaggaaat cgctgtgttg ttaatgcaga gaacaaactc
     1621 tgtttagttg caggggaagt ttgggatata ccccaaagtc ctctaccccc tcacttttat
     1681 ggccctttcc ctagatatac tgcgggatct ctccttagga taaagagttg ctgttgaagt
     1741 tgtatatttt tgatcaatat atttggaaat taaagtttct gactttaa
//
