LOCUS       NM_004056               5735 bp    mRNA    linear   PRI 07-AUG-2024
DEFINITION  Homo sapiens carbonic anhydrase 8 (CA8), transcript variant 1,
            mRNA.
ACCESSION   NM_004056
VERSION     NM_004056.6
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 5735)
  AUTHORS   Wu,C.Y., Yu,J.Y., Chen,Y.S., Chang,H.P., Hsieh,B.Y., Lin,Y.H.,
            Ma,C.Y., Tsai,S.F. and Hsieh,M.
  TITLE     Effects of down-regulated carbonic anhydrase 8 on cell survival and
            glucose metabolism in human colorectal cancer cell lines
  JOURNAL   Cell Biochem Funct 42 (3), e4001 (2024)
   PUBMED   38571370
  REMARK    GeneRIF: Effects of down-regulated carbonic anhydrase 8 on cell
            survival and glucose metabolism in human colorectal cancer cell
            lines.
REFERENCE   2  (bases 1 to 5735)
  AUTHORS   Lin,G.Y., Ma,C.Y., Kuo,L.C., Hsieh,B.Y., Wang,H., Liu,C.S. and
            Hsieh,M.
  TITLE     Altered glucose metabolism and its association with carbonic
            anhydrase 8 in Machado-Joseph Disease
  JOURNAL   Metab Brain Dis 37 (6), 2103-2120 (2022)
   PUBMED   35488942
  REMARK    GeneRIF: Altered glucose metabolism and its association with
            carbonic anhydrase 8 in Machado-Joseph Disease.
REFERENCE   3  (bases 1 to 5735)
  AUTHORS   Hiepp,L., Mayr,D., Gartner,K., Schmoeckel,E., Klauschen,F.,
            Burges,A., Mahner,S., Zeidler,R. and Czogalla,B.
  TITLE     Carbonic anhydrase XII as biomarker and therapeutic target in
            ovarian carcinomas
  JOURNAL   PLoS One 17 (7), e0271630 (2022)
   PUBMED   35901081
  REMARK    GeneRIF: Carbonic anhydrase XII as biomarker and therapeutic target
            in ovarian carcinomas.
            Publication Status: Online-Only
REFERENCE   4  (bases 1 to 5735)
  AUTHORS   Wang,T.K., Lin,Y.M., Lo,C.M., Tang,C.H., Teng,C.L., Chao,W.T.,
            Wu,M.H., Liu,C.S. and Hsieh,M.
  TITLE     Oncogenic roles of carbonic anhydrase 8 in human osteosarcoma cells
  JOURNAL   Tumour Biol 37 (6), 7989-8005 (2016)
   PUBMED   26711783
  REMARK    GeneRIF: we observed increased expression of CA8 in more aggressive
            types of human osteosarcoma (OS) cells and found that CA8
            expression is correlated with disease stages, such that more
            intense expression occurs in the disease late stage
REFERENCE   5  (bases 1 to 5735)
  AUTHORS   Turkmen,S., Guo,G., Garshasbi,M., Hoffmann,K., Alshalah,A.J.,
            Mischung,C., Kuss,A., Humphrey,N., Mundlos,S. and Robinson,P.N.
  TITLE     CA8 mutations cause a novel syndrome characterized by ataxia and
            mild mental retardation with predisposition to quadrupedal gait
  JOURNAL   PLoS Genet 5 (5), e1000487 (2009)
   PUBMED   19461874
  REMARK    GeneRIF: Consanguineous Iraqi family in which affected siblings had
            mild mental retardation and congenital ataxia characterized by
            quadrupedal gait. The mutation S100P is associated with
            proteasome-mediated degradation, and presumably represents a null
            mutation.
REFERENCE   6  (bases 1 to 5735)
  AUTHORS   Mori,S., Kou,I., Sato,H., Emi,M., Ito,H., Hosoi,T. and Ikegawa,S.
  TITLE     Nucleotide variations in genes encoding carbonic anhydrase 8 and 10
            associated with femoral bone mineral density in Japanese female
            with osteoporosis
  JOURNAL   J Bone Miner Metab 27 (2), 213-216 (2009)
   PUBMED   19172221
  REMARK    GeneRIF: The results suggest that the variations of CA8 and CA10
            loci may be important determinants of osteoporosis in Japanese
            women.
            GeneRIF: Observational study of gene-disease association. (HuGE
            Navigator)
REFERENCE   7  (bases 1 to 5735)
  AUTHORS   Bergenhem,N.C., Hallberg,M. and Wisen,S.
  TITLE     Molecular characterization of the human carbonic anhydrase-related
            protein (HCA-RP VIII)
  JOURNAL   Biochim Biophys Acta 1384 (2), 294-298 (1998)
   PUBMED   9659390
REFERENCE   8  (bases 1 to 5735)
  AUTHORS   Bergenhem,N.C., Sait,S.S., Eddy,R.L., Shows,T.B. and Tashian,R.E.
  TITLE     Assignment of the gene for human carbonic anhydrase VIII(CA8) to
            chromosome 8q11-->q12
  JOURNAL   Cytogenet Cell Genet 71 (3), 299-300 (1995)
   PUBMED   7587398
REFERENCE   9  (bases 1 to 5735)
  AUTHORS   Kelly,C., Nogradi,A., Walker,R., Caddy,K., Peters,J. and Carter,N.
  TITLE     Lurching, reeling, waddling and staggering in mice--is carbonic
            anhydrase (CA) VIII a candidate gene?
  JOURNAL   Biochem Soc Trans 22 (3), 359S (1994)
   PUBMED   7821612
REFERENCE   10 (bases 1 to 5735)
  AUTHORS   Skaggs,L.A., Bergenhem,N.C., Venta,P.J. and Tashian,R.E.
  TITLE     The deduced amino acid sequence of human carbonic anhydrase-related
            protein (CARP) is 98% identical to the mouse homologue
  JOURNAL   Gene 126 (2), 291-292 (1993)
   PUBMED   8482548
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from DC400671.1, BC108929.2,
            AC021393.10 and HY307263.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Nov 25, 2018 this sequence version replaced NM_004056.5.
            
            Summary: The protein encoded by this gene was initially named
            CA-related protein because of sequence similarity to other known
            carbonic anhydrase genes. However, the gene product lacks carbonic
            anhydrase activity (i.e., the reversible hydration of carbon
            dioxide). The gene product continues to carry a carbonic anhydrase
            designation based on clear sequence identity to other members of
            the carbonic anhydrase gene family. The absence of CA8 gene
            transcription in the cerebellum of the lurcher mutant in mice with
            a neurologic defect suggests an important role for this acatalytic
            form. Mutations in this gene are associated with cerebellar ataxia,
            mental retardation, and dysequilibrium syndrome 3 (CMARQ3).
            Polymorphisms in this gene are associated with osteoporosis, and
            overexpression of this gene in osteosarcoma cells suggests an
            oncogenic role. Alternative splicing results in multiple transcript
            variants. [provided by RefSeq, Mar 2016].
            
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data to make the sequence consistent with the
            reference genome assembly. The genomic coordinates used for the
            transcript record were based on transcript alignments.
            
            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 :: SRR1803613.6627.1,
                                           SRR1660805.45671.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000317995.5/ ENSP00000314407.4
            RefSeq Select criteria :: based on conservation, expression
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-52                DC400671.1         24-75
            53-1643             BC108929.2         1-1591
            1644-5406           AC021393.10        142799-146561       c
            5407-5727           HY307263.1         1-321               c
            5728-5735           AC021393.10        142470-142477       c
FEATURES             Location/Qualifiers
     source          1..5735
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="8"
                     /map="8q12.1"
     gene            1..5735
                     /gene="CA8"
                     /gene_synonym="CA-RP; CA-VIII; CALS; CAMRQ3; CARP; SCAR34"
                     /note="carbonic anhydrase 8"
                     /db_xref="GeneID:767"
                     /db_xref="HGNC:HGNC:1382"
                     /db_xref="MIM:114815"
     exon            1..353
                     /gene="CA8"
                     /gene_synonym="CA-RP; CA-VIII; CALS; CAMRQ3; CARP; SCAR34"
                     /inference="alignment:Splign:2.1.0"
     CDS             254..1126
                     /gene="CA8"
                     /gene_synonym="CA-RP; CA-VIII; CALS; CAMRQ3; CARP; SCAR34"
                     /EC_number="4.2.1.1"
                     /note="isoform a is encoded by transcript variant 1;
                     CA-related protein; carbonic anhydrase-related protein;
                     carbonic anhydrase VIII; carbonic anhydrase-like sequence;
                     carbonate dehydratase"
                     /codon_start=1
                     /product="carbonic anhydrase-related protein isoform a"
                     /protein_id="NP_004047.3"
                     /db_xref="CCDS:CCDS6174.1"
                     /db_xref="GeneID:767"
                     /db_xref="HGNC:HGNC:1382"
                     /db_xref="MIM:114815"
                     /translation="MADLSFIEDTVAFPEKEEDEEEEEEGVEWGYEEGVEWGLVFPDA
                     NGEYQSPINLNSREARYDPSLLDVRLSPNYVVCRDCEVTNDGHTIQVILKSKSVLSGG
                     PLPQGHEFELYEVRFHWGRENQRGSEHTVNFKAFPMELHLIHWNSTLFGSIDEAVGKP
                     HGIAIIALFVQIGKEHVGLKAVTEILQDIQYKGKSKTIPCFNPNTLLPDPLLRDYWVY
                     EGSLTIPPCSEGVTWILFRYPLTISQLQIEEFRRLRTHVKGAELVEGCDGILGDNFRP
                     TQPLSDRVIRAAFQ"
     exon            354..545
                     /gene="CA8"
                     /gene_synonym="CA-RP; CA-VIII; CALS; CAMRQ3; CARP; SCAR34"
                     /inference="alignment:Splign:2.1.0"
     exon            546..670
                     /gene="CA8"
                     /gene_synonym="CA-RP; CA-VIII; CALS; CAMRQ3; CARP; SCAR34"
                     /inference="alignment:Splign:2.1.0"
     exon            671..766
                     /gene="CA8"
                     /gene_synonym="CA-RP; CA-VIII; CALS; CAMRQ3; CARP; SCAR34"
                     /inference="alignment:Splign:2.1.0"
     exon            767..829
                     /gene="CA8"
                     /gene_synonym="CA-RP; CA-VIII; CALS; CAMRQ3; CARP; SCAR34"
                     /inference="alignment:Splign:2.1.0"
     exon            830..878
                     /gene="CA8"
                     /gene_synonym="CA-RP; CA-VIII; CALS; CAMRQ3; CARP; SCAR34"
                     /inference="alignment:Splign:2.1.0"
     exon            879..991
                     /gene="CA8"
                     /gene_synonym="CA-RP; CA-VIII; CALS; CAMRQ3; CARP; SCAR34"
                     /inference="alignment:Splign:2.1.0"
     exon            992..1161
                     /gene="CA8"
                     /gene_synonym="CA-RP; CA-VIII; CALS; CAMRQ3; CARP; SCAR34"
                     /inference="alignment:Splign:2.1.0"
     exon            1162..5735
                     /gene="CA8"
                     /gene_synonym="CA-RP; CA-VIII; CALS; CAMRQ3; CARP; SCAR34"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1579..1584
                     /regulatory_class="polyA_signal_sequence"
                     /gene="CA8"
                     /gene_synonym="CA-RP; CA-VIII; CALS; CAMRQ3; CARP; SCAR34"
                     /note="hexamer: AATAAG"
     polyA_site      1604
                     /gene="CA8"
                     /gene_synonym="CA-RP; CA-VIII; CALS; CAMRQ3; CARP; SCAR34"
                     /note="major polyA site"
     regulatory      3781..3786
                     /regulatory_class="polyA_signal_sequence"
                     /gene="CA8"
                     /gene_synonym="CA-RP; CA-VIII; CALS; CAMRQ3; CARP; SCAR34"
                     /note="hexamer: AATAAA"
     polyA_site      3800
                     /gene="CA8"
                     /gene_synonym="CA-RP; CA-VIII; CALS; CAMRQ3; CARP; SCAR34"
                     /note="major polyA site"
     regulatory      5709..5714
                     /regulatory_class="polyA_signal_sequence"
                     /gene="CA8"
                     /gene_synonym="CA-RP; CA-VIII; CALS; CAMRQ3; CARP; SCAR34"
                     /note="hexamer: ATTAAA"
     polyA_site      5735
                     /gene="CA8"
                     /gene_synonym="CA-RP; CA-VIII; CALS; CAMRQ3; CARP; SCAR34"
                     /note="major polyA site"
ORIGIN      
        1 aggccacagc cgctccctcg ctctgctggg gcctccggac gcgcttccca cgcgggtctc
       61 tggaacactc ggtccgaacg cacgcctgct tgcactcaca ctgcggttca cacccggagg
      121 cgctctcgca ctcacactgc cgctcacgcg tgctcacact cccccacgcg cgctccgctc
      181 cggctccagc cccgcgccca gcgaaggcgc aggcactgct gccgagagcg ccgaggggcc
      241 ccgcggcctt cccatggcgg acctgagctt catcgaagat accgtcgcct tccccgagaa
      301 ggaagaggat gaggaggaag aagaggaggg tgtggagtgg ggctacgagg aaggtgttga
      361 gtggggtctg gtgtttcctg atgctaatgg ggaataccag tctcctatta acctaaactc
      421 aagagaggct aggtatgacc cctcgctgtt ggatgtccgc ctctccccaa attatgtggt
      481 gtgccgagac tgtgaagtca ccaatgatgg acataccatt caggttatcc tgaagtcaaa
      541 atcagttctt tcgggaggac cattgcctca agggcatgaa tttgaactgt acgaagtgag
      601 atttcactgg ggaagagaaa accagcgtgg ttctgagcac acggttaatt tcaaagcttt
      661 tcccatggag ctccatctga tccactggaa ctccactctg tttggcagca ttgatgaggc
      721 tgtggggaag ccgcacggaa tcgccatcat tgctctgttt gttcagatag gaaaggaaca
      781 tgttggcttg aaggctgtga ctgaaatcct ccaagatatt cagtataagg ggaagtccaa
      841 aacaatacct tgctttaatc ctaacacttt attaccagac cctctgctgc gggattactg
      901 ggtgtatgaa ggctctctca ccatcccacc ttgcagtgaa ggtgtcacct ggatattatt
      961 ccgataccct ttaactatat cccagctaca gatagaagaa tttcgaaggc tgaggacaca
     1021 tgttaagggg gcagaacttg tggaaggctg tgatgggatt ttgggagaca actttcggcc
     1081 cactcagcct cttagtgaca gagtcattag agctgcattt cagtagccaa agaggacagg
     1141 aacaagtctg tcttcatgag ggaggaagac aatggtccta taatgccctt ggataagaaa
     1201 aggaaacttt tgagctgcac cttcagttta tcctcaaagc ctgcgttgtt tgtcttcatc
     1261 taatccagct ttgatggaca tctgtgatgg ttgcctgtac acttgctgaa atgaaatatt
     1321 agaaatggct gtatattcca aagaaaccct atattatata tccacattac tgctgctagg
     1381 attcatagtt gcacatactg tttattgctt atgtgtagaa ggaatgaaac tagtttccag
     1441 agttgttatt aatatgaata tatatcatgt gttaatattg agaaaggaaa aatacattcc
     1501 cggtgttagt agttcttcat ttcctgtctc caacagaaaa ttcactcatt ttagaactag
     1561 tgtaattctt gataataaaa taagagtttt gattaagaac agcatagagc ttcaaaatgc
     1621 aaagtgaatg attagtaaaa ttatgtctca ttttattttt tcagcaccca taccacaatt
     1681 aatattaggc tggattgcca tgggaaacat tttttggcat taatgcagca acataatact
     1741 cactttaggt attactacat agttgaagga tttaactgaa tgtatggatc aaatttattt
     1801 atttgacata ttcgaagctg tggtttaata ggaatttgag aaaggtgtaa gaaataggat
     1861 aaaaagaagg tcagcaccat gtaccaggaa tagctttact ttccatacat agaaatataa
     1921 atttagtggt atcctatatt actttagtgt cgtacgcttt gtaagactta aatattttat
     1981 tctattgatt ccactacttt ggtatgttaa gacatttctt taaagatgac caacaatatc
     2041 cttattttag gtgccactag cagatgtaag cgtatactta gttgccgtta gatgtgacag
     2101 aatgagataa tttatgtaaa gcagtagagt acctggcaca aagcaaacaa taaatattat
     2161 tgttattgtt gttataattg taaaatgaat gacttcaaaa acatagtccc agtttggagg
     2221 gattttgtga tgcagaatat ctaagtcata gaaatagaag acaggtggaa taagtatatg
     2281 ttcagagttt ttagatgtgt tgagtagaga cggtaataat ggaagcatta aatacaaatg
     2341 aaaatcacac cagatatccc tgaaattcaa gcaaagaaag ttcatcatgt attcttgggc
     2401 agcaagagaa aggactaggg ttatggcaat gtgtggaaaa gttgaggctt gctaagggtt
     2461 gagatctgtt ggtagccctg gatcacatgg ggtcagcacc aggcagtgcc tctgaaagcg
     2521 gagagaggtc ctggacttcc cttgtgtata acagttccta gtgtccaaca atgaggaaac
     2581 ggtgaagcat ggttacaaaa ctgtgacaaa aatatttaca tctagcactg ttaccactca
     2641 catgccaaac attggctgca cacgtgcagc cttatttgta attaacatca aaagactaga
     2701 tctgaagcct tccataaatg agaggccatt catatggcat tcctggaaca aaacactgca
     2761 caggtaccag cctctccact cctgaccggg ttggtgctga acagtcaggg attgttcttg
     2821 aactagactt ctgatgcttc ttgcaatctt ctttcatctt tccctgaaat acacaaaata
     2881 aacaaataca ataacaaata gtaattaaat gactttcagg ataacatcta gttgttcaga
     2941 cttcaccctt cacaggtgtg tgtgtatgtg tgtttatgtc tgtatattga agcaatttga
     3001 atttatttac tgtatatttt ctgagtaaaa gactgaaatg aactacttgg ttcagatcat
     3061 ggtgtccatt ggtgacattg tttggaggca taatattctt tatatggaaa atcctttaat
     3121 tccacagtta gttacctcag attcagaata tgaatactgt ttataatacg cttttgtagg
     3181 aatgaatttg aaaggtagtt tgtcagtaaa cgaaagcaca acaactaatc tcaaatctgt
     3241 tttgatggtg tgataggaaa gaaagtaaaa cctatgtgat ggaccctgta attggggcag
     3301 gaatctccca aagaaaaagg ggagaattaa tgacaaatgt catagatctt gaaatttaat
     3361 ttagggtgca ttttgtttat gaaacaattt aataaggcaa caaagtgaaa tgatttttca
     3421 tgtagcttat acacatgtaa gtgcctctga ttcatggtaa ctaacgtacc tgatggtgtg
     3481 taaagtaata ctgttgtcag aaggtttgcc aattaagata atttgagttt actctttttt
     3541 tgttggttag tttagctgaa ggcttgtcaa ttttattgat ttttttcaag gagccaaagt
     3601 ggattttggg gttttctcta ttgtgtttgt attctctatg tcatcaaact ctgctcaaat
     3661 cttacaaaat agtaagatta gtaagaaagc agactaactt ctgcttgctt tgtatttagt
     3721 ttgtgtcttt tccagtattt taaggtggaa ggttaggtta ttgatttgaa ttcttttttg
     3781 aataaaggca ttaacagtta taaattttcc tctgagcatt gctttagctg catccaataa
     3841 gttttggtat gccatgtttt tgttttcatt catctcaagg tattagaaaa tactttgcct
     3901 tttaatttct ttttgatgca atggttattt aggagtacat tgtttaattt ccacatattt
     3961 atgaattccc aaatttgtta ttgatttata atttttttct gttgtgatca gaaaacatac
     4021 tttatatgat ctcagtctta aatttatcga ggtttgcttt ctggcttagc atatggttta
     4081 tcctgcagaa taatccatgt gtacttaaga gtatgtattg tactgttgtt ggatgctgtg
     4141 ttctatagat agatggctgt taggtctata gtgttggcct gttgtgttgt tcaagtcttc
     4201 tatttccttg ttgatatgcc tatttctgtc tattatgaaa gtagtgtatt gaattctctg
     4261 actgttgttg aataatctct tccttcaatt ctgtcagttt ttttctacat tcattttggg
     4321 acttttgtcc ttctttatct ctagtaacat ttttttattt taatatatac tttgtcagat
     4381 attaatatag ctgccccagc tttcttatag ttgctatttg tatgatgtat cttttttcat
     4441 cttttcactt tcaacttatt tatatttttg aatctaaagt gtgtctccaa cttatagttg
     4501 gatcttgttt ttttttgaaa tccagtctga cagtctctct gccttttggt tggattattt
     4561 aacccatttg cacttaatgt tattgtttat atagttggat ttgtgtctgc cattttactt
     4621 tttgttttcc acatgtcttg tatctttttg ttgttgttcc tttattcctc ctctattact
     4681 ttttttttaa ttaggtgaat attttctagt atatttcaat tgctttaatt atttttttca
     4741 tttttttgag tatattttca cagtggttgc taaagggcat atcatatact tgttaattta
     4801 tcagaatcta tttcagattt ataataactt tattacagtg agttatttag ttactactaa
     4861 atagctctga actctcttct ccctttttgt gctattattg ttatacatat tacatctata
     4921 catgctgtaa gcccaacaat acattgttat atttttcctg taattgtatg tatattaagc
     4981 aagcagagac ttgagaacaa attatattta tagagtttct tctagtaagc ttttaattta
     5041 ccatttctgg ttatgttcat tttgtcttgt aaatttgagt caccatctgg tgtgatttct
     5101 tactccagta ctactttgtt cttatttacc tcctttgtgt tgtcattgtc aaatatgtca
     5161 catttgtata tgttctgggt ctaaagcata attacatgat attttataca attgctcttt
     5221 aagagaagga agaaatgcat ttatactgtc tttcataatt acataattac atttaccagt
     5281 gccctttttt ttttggaatg gattcaaatt agtatctggg gtcacttcat tccaggcaga
     5341 agtccttttt ttaatatatt tttatataag gcaaatctga tagggacaaa tctttagttt
     5401 ttgtttatat gggctatctt tattttacct tctttgagat agttttgcta aatataaaac
     5461 tcctggtgaa aagtttctgt ttctgttttt gttttctcag catctgctga gatgccagct
     5521 ataaagctta atgaggtttc cttctacaag acaaatcgtt tttctgtttc tgctttcaaa
     5581 aacaaatggt ttcccccctg ccccagattt cgtactatga tgtatctggg tgtgagtctg
     5641 tatttattct gcttggaatt tgttgagctt cttgggtatg tagatgaatg atttttttta
     5701 agaaaaatat taaatttggg atgtttgagc catta
//
