LOCUS       NM_001752               2291 bp    mRNA    linear   PRI 03-SEP-2024
DEFINITION  Homo sapiens catalase (CAT), mRNA.
ACCESSION   NM_001752
VERSION     NM_001752.4
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 2291)
  AUTHORS   Hassib,N.F., Mehrez,M., Abouzaid,M.R., Mostafa,M.I., Elhossini,R.M.
            and Abdel-Hamid,M.S.
  TITLE     A novel missense variant in CAT gene causing acatalasemia with
            gangrenous periodontitis (Takahara's disease)
  JOURNAL   Arch Oral Biol 167, 106054 (2024)
   PUBMED   39079473
  REMARK    GeneRIF: A novel missense variant in CAT gene causing acatalasemia
            with gangrenous periodontitis (Takahara's disease).
REFERENCE   2  (bases 1 to 2291)
  AUTHORS   Zhang,R., Jiang,W., Wang,G., Zhang,Y., Liu,W., Li,M., Yu,J.,
            Yan,X., Zhou,F., Du,W., Qian,K., Xiao,Y., Liu,T., Ju,L. and Wang,X.
  TITLE     Parkin inhibits proliferation and migration of bladder cancer via
            ubiquitinating Catalase
  JOURNAL   Commun Biol 7 (1), 245 (2024)
   PUBMED   38424181
  REMARK    GeneRIF: Parkin inhibits proliferation and migration of bladder
            cancer via ubiquitinating Catalase.
            Publication Status: Online-Only
REFERENCE   3  (bases 1 to 2291)
  AUTHORS   Datkhile,K.D., Gudur,R.A., Bhosale,S.J., Gudur,A.K.,
            Durgawale,P.P., Jagdale,N.J., More,A.L. and Patil,S.R.
  TITLE     Superoxide Dismutase (rs2070424, rs4880, rs2536512) and Catalase
            (rs794316, rs1001179) SNPs and their Association with Breast Cancer
            Risk: Findings from a Hospital Based Case-Control Study
  JOURNAL   Asian Pac J Cancer Prev 25 (1), 175-184 (2024)
   PUBMED   38285782
  REMARK    GeneRIF: Superoxide Dismutase (rs2070424, rs4880, rs2536512) and
            Catalase (rs794316, rs1001179) SNPs and their Association with
            Breast Cancer Risk: Findings from a Hospital Based Case-Control
            Study.
            Publication Status: Online-Only
REFERENCE   4  (bases 1 to 2291)
  AUTHORS   Kosmalski,M., Szymczak-Pajor,I., Drzewoski,J. and Sliwinska,A.
  TITLE     Non-Alcoholic Fatty Liver Disease Is Associated with a Decreased
            Catalase (CAT) Level, CT Genotypes and the T Allele of the -262 C/T
            CAT Polymorphism
  JOURNAL   Cells 12 (18), 2228 (2023)
   PUBMED   37759451
  REMARK    GeneRIF: Non-Alcoholic Fatty Liver Disease Is Associated with a
            Decreased Catalase (CAT) Level, CT Genotypes and the T Allele of
            the -262 C/T CAT Polymorphism.
            Publication Status: Online-Only
REFERENCE   5  (bases 1 to 2291)
  AUTHORS   Kotepui,M., Mahittikorn,A., Masangkay,F.R. and Kotepui,K.U.
  TITLE     Differences in catalase levels between malaria-infected individuals
            and uninfected controls: a systematic review and meta-analysis
  JOURNAL   Sci Rep 13 (1), 14619 (2023)
   PUBMED   37670044
  REMARK    GeneRIF: Differences in catalase levels between malaria-infected
            individuals and uninfected controls: a systematic review and
            meta-analysis.
            Publication Status: Online-Only
REFERENCE   6  (bases 1 to 2291)
  AUTHORS   Kishimoto,Y., Murakami,Y., Hayashi,K., Takahara,S., Sugimura,T. and
            Sekiya,T.
  TITLE     Detection of a common mutation of the catalase gene in Japanese
            acatalasemic patients
  JOURNAL   Hum Genet 88 (5), 487-490 (1992)
   PUBMED   1551654
REFERENCE   7  (bases 1 to 2291)
  AUTHORS   Shaffer,J.B. and Preston,K.E.
  TITLE     Molecular analysis of an acatalasemic mouse mutant
  JOURNAL   Biochem Biophys Res Commun 173 (3), 1043-1050 (1990)
   PUBMED   2268310
REFERENCE   8  (bases 1 to 2291)
  AUTHORS   Wen,J.K., Osumi,T., Hashimoto,T. and Ogata,M.
  TITLE     Molecular analysis of human acatalasemia. Identification of a
            splicing mutation
  JOURNAL   J Mol Biol 211 (2), 383-393 (1990)
   PUBMED   2308162
REFERENCE   9  (bases 1 to 2291)
  AUTHORS   Litwin,J.A., Volkl,A., Muller-Hocker,J. and Fahimi,H.D.
  TITLE     Immunocytochemical demonstration of peroxisomal enzymes in human
            kidney biopsies
  JOURNAL   Virchows Arch B Cell Pathol Incl Mol Pathol 54 (4), 207-213 (1988)
   PUBMED   2895531
REFERENCE   10 (bases 1 to 2291)
  AUTHORS   Kittur,S.D., Hoppener,J.W., Antonarakis,S.E., Daniels,J.D.,
            Meyers,D.A., Maestri,N.E., Jansen,M., Korneluk,R.G., Nelkin,B.D.
            and Kazazian,H.H. Jr.
  TITLE     Linkage map of the short arm of human chromosome 11: location of
            the genes for catalase, calcitonin, and insulin-like growth factor
            II
  JOURNAL   Proc Natl Acad Sci U S A 82 (15), 5064-5067 (1985)
   PUBMED   2991908
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AK291585.1, AL035079.14 and
            AW023382.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Nov 23, 2018 this sequence version replaced NM_001752.3.
            
            Summary: This gene encodes catalase, a key antioxidant enzyme in
            the bodies defense against oxidative stress. Catalase is a heme
            enzyme that is present in the peroxisome of nearly all aerobic
            cells. Catalase converts the reactive oxygen species hydrogen
            peroxide to water and oxygen and thereby mitigates the toxic
            effects of hydrogen peroxide. Oxidative stress is hypothesized to
            play a role in the development of many chronic or late-onset
            diseases such as diabetes, asthma, Alzheimer's disease, systemic
            lupus erythematosus, rheumatoid arthritis, and cancers.
            Polymorphisms in this gene have been associated with decreases in
            catalase activity but, to date, acatalasemia is the only disease
            known to be caused by this gene. [provided by RefSeq, Oct 2009].
            
            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 :: SRR3476690.1080032.1,
                                           SRR3476690.186343.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000241052.5/ ENSP00000241052.4
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-1246              AK291585.1         10-1255
            1247-1275           AL035079.14        14071-14099         c
            1276-1406           AL035079.14        11225-11355         c
            1407-1514           AL035079.14        7065-7172           c
            1515-1598           AL035079.14        4419-4502           c
            1599-2272           AL035079.14        3419-4092           c
            2273-2291           AW023382.1         509-527
FEATURES             Location/Qualifiers
     source          1..2291
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="11"
                     /map="11p13"
     gene            1..2291
                     /gene="CAT"
                     /note="catalase"
                     /db_xref="GeneID:847"
                     /db_xref="HGNC:HGNC:1516"
                     /db_xref="MIM:115500"
     exon            1..146
                     /gene="CAT"
                     /inference="alignment:Splign:2.1.0"
     CDS             81..1664
                     /gene="CAT"
                     /EC_number="1.11.1.6"
                     /note="epididymis secretory sperm binding protein"
                     /codon_start=1
                     /product="catalase"
                     /protein_id="NP_001743.1"
                     /db_xref="CCDS:CCDS7891.1"
                     /db_xref="GeneID:847"
                     /db_xref="HGNC:HGNC:1516"
                     /db_xref="MIM:115500"
                     /translation="MADSRDPASDQMQHWKEQRAAQKADVLTTGAGNPVGDKLNVITV
                     GPRGPLLVQDVVFTDEMAHFDRERIPERVVHAKGAGAFGYFEVTHDITKYSKAKVFEH
                     IGKKTPIAVRFSTVAGESGSADTVRDPRGFAVKFYTEDGNWDLVGNNTPIFFIRDPIL
                     FPSFIHSQKRNPQTHLKDPDMVWDFWSLRPESLHQVSFLFSDRGIPDGHRHMNGYGSH
                     TFKLVNANGEAVYCKFHYKTDQGIKNLSVEDAARLSQEDPDYGIRDLFNAIATGKYPS
                     WTFYIQVMTFNQAETFPFNPFDLTKVWPHKDYPLIPVGKLVLNRNPVNYFAEVEQIAF
                     DPSNMPPGIEASPDKMLQGRLFAYPDTHRHRLGPNYLHIPVNCPYRARVANYQRDGPM
                     CMQDNQGGAPNYYPNSFGAPEQQPSALEHSIQYSGEVRRFNTANDDNVTQVRAFYVNV
                     LNEEQRKRLCENIAGHLKDAQIFIQKKAVKNFTEVHPDYGSHIQALLDKYNAEKPKNA
                     IHTFVQSGSHLAAREKANL"
     exon            147..318
                     /gene="CAT"
                     /inference="alignment:Splign:2.1.0"
     exon            319..429
                     /gene="CAT"
                     /inference="alignment:Splign:2.1.0"
     exon            430..560
                     /gene="CAT"
                     /inference="alignment:Splign:2.1.0"
     exon            561..665
                     /gene="CAT"
                     /inference="alignment:Splign:2.1.0"
     exon            666..791
                     /gene="CAT"
                     /inference="alignment:Splign:2.1.0"
     exon            792..983
                     /gene="CAT"
                     /inference="alignment:Splign:2.1.0"
     exon            984..1136
                     /gene="CAT"
                     /inference="alignment:Splign:2.1.0"
     exon            1137..1275
                     /gene="CAT"
                     /inference="alignment:Splign:2.1.0"
     exon            1276..1406
                     /gene="CAT"
                     /inference="alignment:Splign:2.1.0"
     exon            1407..1514
                     /gene="CAT"
                     /inference="alignment:Splign:2.1.0"
     exon            1515..1598
                     /gene="CAT"
                     /inference="alignment:Splign:2.1.0"
     exon            1599..2291
                     /gene="CAT"
                     /inference="alignment:Splign:2.1.0"
     regulatory      2267..2272
                     /regulatory_class="polyA_signal_sequence"
                     /gene="CAT"
                     /note="hexamer: AATAAA"
     regulatory      2271..2276
                     /regulatory_class="polyA_signal_sequence"
                     /gene="CAT"
                     /note="hexamer: AATAAT"
     polyA_site      2286
                     /gene="CAT"
                     /note="major polyA site"
     polyA_site      2291
                     /gene="CAT"
                     /note="major polyA site"
ORIGIN      
        1 aacaggcaga tttgcctgct gagggtggag acccacgagc cgaggcctcc tgcagtgttc
       61 tgcacagcaa accgcacgct atggctgaca gccgggatcc cgccagcgac cagatgcagc
      121 actggaagga gcagcgggcc gcgcagaaag ctgatgtcct gaccactgga gctggtaacc
      181 cagtaggaga caaacttaat gttattacag tagggccccg tgggcccctt cttgttcagg
      241 atgtggtttt cactgatgaa atggctcatt ttgaccgaga gagaattcct gagagagttg
      301 tgcatgctaa aggagcaggg gcctttggct actttgaggt cacacatgac attaccaaat
      361 actccaaggc aaaggtattt gagcatattg gaaagaagac tcccatcgca gttcggttct
      421 ccactgttgc tggagaatcg ggttcagctg acacagttcg ggaccctcgt gggtttgcag
      481 tgaaatttta cacagaagat ggtaactggg atctcgttgg aaataacacc cccattttct
      541 tcatcaggga tcccatattg tttccatctt ttatccacag ccaaaagaga aatcctcaga
      601 cacatctgaa ggatccggac atggtctggg acttctggag cctacgtcct gagtctctgc
      661 atcaggtttc tttcttgttc agtgatcggg ggattccaga tggacatcgc cacatgaatg
      721 gatatggatc acatactttc aagctggtta atgcaaatgg ggaggcagtt tattgcaaat
      781 tccattataa gactgaccag ggcatcaaaa acctttctgt tgaagatgcg gcgagacttt
      841 cccaggaaga tcctgactat ggcatccggg atctttttaa cgccattgcc acaggaaagt
      901 acccctcctg gactttttac atccaggtca tgacatttaa tcaggcagaa acttttccat
      961 ttaatccatt cgatctcacc aaggtttggc ctcacaagga ctaccctctc atcccagttg
     1021 gtaaactggt cttaaaccgg aatccagtta attactttgc tgaggttgaa cagatagcct
     1081 tcgacccaag caacatgcca cctggcattg aggccagtcc tgacaaaatg cttcagggcc
     1141 gcctttttgc ctatcctgac actcaccgcc atcgcctggg acccaattat cttcatatac
     1201 ctgtgaactg tccctaccgt gctcgagtgg ccaactacca gcgtgacggc ccgatgtgca
     1261 tgcaggacaa tcagggtggt gctccaaatt actaccccaa cagctttggt gctccggaac
     1321 aacagccttc tgccctggag cacagcatcc aatattctgg agaagtgcgg agattcaaca
     1381 ctgccaatga tgataacgtt actcaggtgc gggcattcta tgtgaacgtg ctgaatgagg
     1441 aacagaggaa acgtctgtgt gagaacattg ccggccacct gaaggatgca caaattttca
     1501 tccagaagaa agcggtcaag aacttcactg aggtccaccc tgactacggg agccacatcc
     1561 aggctcttct ggacaagtac aatgctgaga agcctaagaa tgcgattcac acctttgtgc
     1621 agtccggatc tcacttggcg gcaagggaga aggcaaatct gtgaggccgg ggccctgcac
     1681 ctgtgcagcg aagcttagcg ttcatccgtg taacccgctc atcactggat gaagattctc
     1741 ctgtgctaga tgtgcaaatg caagctagtg gcttcaaaat agagaatccc actttctata
     1801 gcagattgtg taacaatttt aatgctattt ccccagggga aaatgaaggt taggatttaa
     1861 cagtcattta aaaaaaaaat ttgttttgac ggatgattgg attattcatt taaaatgatt
     1921 agaaggcaag tttctagcta gaaatatgat tttatttgac aaaatttgtt gaaattatgt
     1981 atgtttacat atcacctcat ggcctattat attaaaatat ggctataaat atataaaaag
     2041 aaaagataaa gatgatctac tcagaaattt ttatttttct aaggttctca taggaaaagt
     2101 acatttaata cagcagtgtc atcagaagat aacttgagca ccgtcatggc ttaatgttta
     2161 ttcctgataa taattgatca aattcatttt tttcactgga gttacattaa tgttaattca
     2221 gcactgattt cacaacagat caatttgtaa ttgcttacat ttttacaata aataatctgt
     2281 acgtaagaac a
//
