LOCUS       NM_000717               1123 bp    mRNA    linear   PRI 08-OCT-2024
DEFINITION  Homo sapiens carbonic anhydrase 4 (CA4), transcript variant 1,
            mRNA.
ACCESSION   NM_000717
VERSION     NM_000717.5
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 1123)
  AUTHORS   Xu,B., Lou,Y., Xu,X., Li,X., Tian,X., Yu,Z. and Chen,X.
  TITLE     Carbonic Anhydrase 4 Serves as A Novel Prognostic Biomarker and
            Therapeutic Target for Non-Small Cell Lung Cancer: A Study Based on
            TCGA Samples
  JOURNAL   Comb Chem High Throughput Screen 26 (14), 2527-2540 (2023)
   PUBMED   36944625
  REMARK    GeneRIF: Carbonic Anhydrase 4 Serves as A Novel Prognostic
            Biomarker and Therapeutic Target for Non-Small Cell Lung Cancer: A
            Study Based on TCGA Samples.
REFERENCE   2  (bases 1 to 1123)
  AUTHORS   Nava,V.E., Khosla,R., Shin,S., Mordini,F.E. and Bandyopadhyay,B.C.
  TITLE     Enhanced carbonic anhydrase expression with calcification and
            fibrosis in bronchial cartilage during COPD
  JOURNAL   Acta Histochem 124 (1), 151834 (2022)
   PUBMED   34954529
  REMARK    GeneRIF: Enhanced carbonic anhydrase expression with calcification
            and fibrosis in bronchial cartilage during COPD.
REFERENCE   3  (bases 1 to 1123)
  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 1123)
  AUTHORS   Hatipoglu,O. and Saydam,F.
  TITLE     Effects of the carbonic anhydrase VI gene polymorphisms on dental
            caries: A meta-analysis
  JOURNAL   Dent Med Probl 56 (4), 395-400 (2019)
   PUBMED   31895503
  REMARK    GeneRIF: highest susceptibility effect was noticed in the rs2274328
            of carbonic anhydrase VI (AA vs CC) model (d = 0.18; 95% CI
            (confidence interval): -1.77, 2.13), but this effect was not
            significant [meta-analysis]
REFERENCE   5  (bases 1 to 1123)
  AUTHORS   Fahim,A.T., Daiger,S.P. and Weleber,R.G.
  TITLE     Nonsyndromic Retinitis Pigmentosa Overview
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301590
REFERENCE   6  (bases 1 to 1123)
  AUTHORS   Okuyama,T., Sato,S., Zhu,X.L., Waheed,A. and Sly,W.S.
  TITLE     Human carbonic anhydrase IV: cDNA cloning, sequence comparison, and
            expression in COS cell membranes
  JOURNAL   Proc Natl Acad Sci U S A 89 (4), 1315-1319 (1992)
   PUBMED   1311094
REFERENCE   7  (bases 1 to 1123)
  AUTHORS   Hageman,G.S., Zhu,X.L., Waheed,A. and Sly,W.S.
  TITLE     Localization of carbonic anhydrase IV in a specific capillary bed
            of the human eye
  JOURNAL   Proc Natl Acad Sci U S A 88 (7), 2716-2720 (1991)
   PUBMED   1901414
REFERENCE   8  (bases 1 to 1123)
  AUTHORS   Carter,N.D., Fryer,A., Grant,A.G., Hume,R., Strange,R.G. and
            Wistrand,P.J.
  TITLE     Membrane specific carbonic anhydrase (CAIV) expression in human
            tissues
  JOURNAL   Biochim Biophys Acta 1026 (1), 113-116 (1990)
   PUBMED   2116168
REFERENCE   9  (bases 1 to 1123)
  AUTHORS   Zhu,X.L. and Sly,W.S.
  TITLE     Carbonic anhydrase IV from human lung. Purification,
            characterization, and comparison with membrane carbonic anhydrase
            from human kidney
  JOURNAL   J Biol Chem 265 (15), 8795-8801 (1990)
   PUBMED   2111324
REFERENCE   10 (bases 1 to 1123)
  AUTHORS   Whitney,P.L. and Briggle,T.V.
  TITLE     Membrane-associated carbonic anhydrase purified from bovine lung
  JOURNAL   J Biol Chem 257 (20), 12056-12059 (1982)
   PUBMED   6811592
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from BC057792.1, BC074768.2 and
            AI990988.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Nov 22, 2018 this sequence version replaced NM_000717.4.
            
            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
            gene encodes a glycosylphosphatidyl-inositol-anchored membrane
            isozyme expressed on the luminal surfaces of pulmonary (and certain
            other) capillaries and proximal renal tubules. Its exact function
            is not known; however, it may have a role in inherited renal
            abnormalities of bicarbonate transport. [provided by RefSeq, Jul
            2008].
            
            Transcript Variant: This variant (1) represents the shorter
            transcript and encodes the protein.
            
            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 :: SRR3476690.86399.1,
                                           SRR3476690.92049.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1968540, SAMEA1968832
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000300900.9/ ENSP00000300900.3
            RefSeq Select criteria :: based on conservation, expression
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-39                BC057792.1         38-76
            40-1049             BC074768.2         1-1010
            1050-1123           AI990988.1         11-84               c
FEATURES             Location/Qualifiers
     source          1..1123
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="17"
                     /map="17q23.1"
     gene            1..1123
                     /gene="CA4"
                     /gene_synonym="CAIV; Car4; RP17"
                     /note="carbonic anhydrase 4"
                     /db_xref="GeneID:762"
                     /db_xref="HGNC:HGNC:1375"
                     /db_xref="MIM:114760"
     exon            1..120
                     /gene="CA4"
                     /gene_synonym="CAIV; Car4; RP17"
                     /inference="alignment:Splign:2.1.0"
     CDS             63..1001
                     /gene="CA4"
                     /gene_synonym="CAIV; Car4; RP17"
                     /EC_number="4.2.1.1"
                     /note="carbonic dehydratase IV; CA-IV; carbonate
                     dehydratase IV; carbonic anhydrase IV"
                     /codon_start=1
                     /product="carbonic anhydrase 4 preproprotein"
                     /protein_id="NP_000708.1"
                     /db_xref="CCDS:CCDS11624.1"
                     /db_xref="GeneID:762"
                     /db_xref="HGNC:HGNC:1375"
                     /db_xref="MIM:114760"
                     /translation="MRMLLALLALSAARPSASAESHWCYEVQAESSNYPCLVPVKWGG
                     NCQKDRQSPINIVTTKAKVDKKLGRFFFSGYDKKQTWTVQNNGHSVMMLLENKASISG
                     GGLPAPYQAKQLHLHWSDLPYKGSEHSLDGEHFAMEMHIVHEKEKGTSRNVKEAQDPE
                     DEIAVLAFLVEAGTQVNEGFQPLVEALSNIPKPEMSTTMAESSLLDLLPKEEKLRHYF
                     RYLGSLTTPTCDEKVVWTVFREPIQLHREQILAFSQKLYYDKEQTVSMKDNVRPLQQL
                     GQRTVIKSGAPGRPLPWALPALLGPMLACLLAGFLR"
     exon            121..174
                     /gene="CA4"
                     /gene_synonym="CAIV; Car4; RP17"
                     /inference="alignment:Splign:2.1.0"
     exon            175..330
                     /gene="CA4"
                     /gene_synonym="CAIV; Car4; RP17"
                     /inference="alignment:Splign:2.1.0"
     exon            331..476
                     /gene="CA4"
                     /gene_synonym="CAIV; Car4; RP17"
                     /inference="alignment:Splign:2.1.0"
     exon            477..575
                     /gene="CA4"
                     /gene_synonym="CAIV; Car4; RP17"
                     /inference="alignment:Splign:2.1.0"
     exon            576..642
                     /gene="CA4"
                     /gene_synonym="CAIV; Car4; RP17"
                     /inference="alignment:Splign:2.1.0"
     exon            643..806
                     /gene="CA4"
                     /gene_synonym="CAIV; Car4; RP17"
                     /inference="alignment:Splign:2.1.0"
     exon            807..1123
                     /gene="CA4"
                     /gene_synonym="CAIV; Car4; RP17"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1095..1100
                     /regulatory_class="polyA_signal_sequence"
                     /gene="CA4"
                     /gene_synonym="CAIV; Car4; RP17"
                     /note="hexamer: ATTAAA"
     polyA_site      1123
                     /gene="CA4"
                     /gene_synonym="CAIV; Car4; RP17"
                     /note="major polyA site"
ORIGIN      
        1 acccgcggcg gcctcctcgg tgcgcgaccc ccggctcaga ggactctttg ctgtcccgca
       61 agatgcggat gctgctggcg ctcctggccc tctccgcggc gcggccatcg gccagtgcag
      121 agtcacactg gtgctacgag gttcaagccg agtcctccaa ctacccctgc ttggtgccag
      181 tcaagtgggg tggaaactgc cagaaggacc gccagtcccc catcaacatc gtcaccacca
      241 aggcaaaggt ggacaaaaaa ctgggacgct tcttcttctc tggctacgat aagaagcaaa
      301 cgtggactgt ccaaaataac gggcactcag tgatgatgtt gctggagaac aaggccagca
      361 tttctggagg aggactgcct gccccatacc aggccaaaca gttgcacctg cactggtccg
      421 acttgccata taagggctcg gagcacagcc tcgatgggga gcactttgcc atggagatgc
      481 acatagtaca tgagaaagag aaggggacat cgaggaatgt gaaagaggcc caggaccctg
      541 aagacgaaat tgcggtgctg gcctttctgg tggaggctgg aacccaggtg aacgagggct
      601 tccagccact ggtggaggca ctgtctaata tccccaaacc tgagatgagc actacgatgg
      661 cagagagcag cctgttggac ctgctcccca aggaggagaa actgaggcac tacttccgct
      721 acctgggctc actcaccaca ccgacctgcg atgagaaggt cgtctggact gtgttccggg
      781 agcccattca gcttcacaga gaacagatcc tggcattctc tcagaagctg tactacgaca
      841 aggaacagac agtgagcatg aaggacaatg tcaggcccct gcagcagctg gggcagcgca
      901 cggtgataaa gtccggggcc ccgggtcggc cgctgccctg ggccctgcct gccctgctgg
      961 gccccatgct ggcctgcctg ctggccggct tcctgcgatg atggctcact tctgcacgca
     1021 gcctctctgt tgcctcagct ctccaagttc caggcttccg gtccttagcc ttcccaggtg
     1081 ggactttagg catgattaaa atatggacat atttttggag aaa
//
