LOCUS       NM_001910               2214 bp    mRNA    linear   PRI 06-JUN-2024
DEFINITION  Homo sapiens cathepsin E (CTSE), transcript variant 1, mRNA.
ACCESSION   NM_001910
VERSION     NM_001910.4
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 2214)
  AUTHORS   Xie,Z., Meng,J., Kong,W., Wu,Z., Lan,F., Narengaowa, Hayashi,Y.,
            Yang,Q., Bai,Z., Nakanishi,H., Qing,H. and Ni,J.
  TITLE     Microglial cathepsin E plays a role in neuroinflammation and
            amyloid beta production in Alzheimer's disease
  JOURNAL   Aging Cell 21 (3), e13565 (2022)
   PUBMED   35181976
  REMARK    GeneRIF: Microglial cathepsin E plays a role in neuroinflammation
            and amyloid beta production in Alzheimer's disease.
REFERENCE   2  (bases 1 to 2214)
  AUTHORS   Kurianiuk,A., Socha,K., Gacko,M., Blachnio-Zabielska,A. and
            Karwowska,A.
  TITLE     The Relationship between the Concentration of Cathepsin A, D, and E
            and the Concentration of Copper and Zinc, and the Size of the
            Aneurysmal Enlargement in the Wall of the Abdominal Aortic Aneurysm
  JOURNAL   Ann Vasc Surg 55, 182-188 (2019)
   PUBMED   30278264
  REMARK    GeneRIF: Higher contents of cathepsin A, D, and E in the wall of
            the aortic aneurysms and a positive correlation between the
            concentration of cathepsin A and D and the width of the aneurysmal
            widening, suggests the participation of these enzymes in the
            pathogenesis of the aneurysm.
REFERENCE   3  (bases 1 to 2214)
  AUTHORS   Fisher,O.M., Levert-Mignon,A.J., Lord,S.J., Botelho,N.K.,
            Freeman,A.K., Thomas,M.L., Falkenback,D., Wettstein,A.,
            Whiteman,D.C., Bobryshev,Y.V. and Lord,R.V.
  TITLE     High Expression of Cathepsin E in Tissues but Not Blood of Patients
            with Barrett's Esophagus and Adenocarcinoma
  JOURNAL   Ann Surg Oncol 22 (7), 2431-2438 (2015)
   PUBMED   25348778
  REMARK    GeneRIF: High Expression of Cathepsin E is associated with Tissues
            but Not Blood of Patients with Barrett's Esophagus and
            Adenocarcinoma.
REFERENCE   4  (bases 1 to 2214)
  AUTHORS   Zhang,X., Shan,P., Homer,R., Zhang,Y., Petrache,I., Mannam,P. and
            Lee,P.J.
  TITLE     Cathepsin E promotes pulmonary emphysema via mitochondrial fission
  JOURNAL   Am J Pathol 184 (10), 2730-2741 (2014)
   PUBMED   25239563
  REMARK    GeneRIF: Cathepsin E, mitochondrial fission, and caspase
            activation/apoptosis are linked in the pathogenesis of pulmonary
            emphysema.
REFERENCE   5  (bases 1 to 2214)
  AUTHORS   Yamamoto,K., Kawakubo,T., Yasukochi,A. and Tsukuba,T.
  TITLE     Emerging roles of cathepsin E in host defense mechanisms
  JOURNAL   Biochim Biophys Acta 1824 (1), 105-112 (2012)
   PUBMED   21664991
  REMARK    GeneRIF: Emerging roles of cathepsin E in immune system cells and
            skin keratinocytes, and in host defense against cancer cells.
            Review article
REFERENCE   6  (bases 1 to 2214)
  AUTHORS   Takeda-Ezaki,M. and Yamamoto,K.
  TITLE     Isolation and biochemical characterization of procathepsin E from
            human erythrocyte membranes
  JOURNAL   Arch Biochem Biophys 304 (2), 352-358 (1993)
   PUBMED   8346912
REFERENCE   7  (bases 1 to 2214)
  AUTHORS   Azuma,T., Liu,W.G., Vander Laan,D.J., Bowcock,A.M. and Taggart,R.T.
  TITLE     Human gastric cathepsin E gene. Multiple transcripts result from
            alternative polyadenylation of the primary transcripts of a single
            gene locus at 1q31-q32
  JOURNAL   J Biol Chem 267 (3), 1609-1614 (1992)
   PUBMED   1370478
REFERENCE   8  (bases 1 to 2214)
  AUTHORS   Saku,T., Sakai,H., Shibata,Y., Kato,Y. and Yamamoto,K.
  TITLE     An immunocytochemical study on distinct intracellular localization
            of cathepsin E and cathepsin D in human gastric cells and various
            rat cells
  JOURNAL   J Biochem 110 (6), 956-964 (1991)
   PUBMED   1794985
REFERENCE   9  (bases 1 to 2214)
  AUTHORS   Athauda,S.B., Takahashi,T., Inoue,H., Ichinose,M. and Takahashi,K.
  TITLE     Proteolytic activity and cleavage specificity of cathepsin E at the
            physiological pH as examined towards the B chain of oxidized
            insulin
  JOURNAL   FEBS Lett 292 (1-2), 53-56 (1991)
   PUBMED   1959628
REFERENCE   10 (bases 1 to 2214)
  AUTHORS   Flynn,T.J., Deshmukh,D.S. and Pieringer,R.A.
  TITLE     Effects of altered thyroid function on galactosyl diacylglycerol
            metabolism in myelinating rat brain
  JOURNAL   J Biol Chem 252 (16), 5864-5870 (1977)
   PUBMED   195962
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AU100136.1 and BC042537.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Nov 22, 2018 this sequence version replaced NM_001910.3.
            
            Summary: This gene encodes a member of the A1 family of peptidases.
            Alternative splicing of this gene results in multiple transcript
            variants. At least one of these variants encodes a preproprotein
            that is proteolytically processed to generate the mature enzyme.
            This enzyme, an aspartic endopeptidase, may be involved in antigen
            processing and the maturation of secretory proteins. Elevated
            expression of this gene has been observed in neurodegeneration.
            [provided by RefSeq, Nov 2015].
            
            Transcript Variant: This variant (1) represents the longest
            transcript and encodes the longest isoform (a).
            
            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 :: AJ250717.1, J05036.1 [ECO:0000332]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000358184.7/ ENSP00000350911.2
            RefSeq Select criteria :: based on conservation, expression
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-286               AU100136.1         15-300
            287-2214            BC042537.1         268-2195
FEATURES             Location/Qualifiers
     source          1..2214
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /map="1q32.1"
     gene            1..2214
                     /gene="CTSE"
                     /gene_synonym="CATE"
                     /note="cathepsin E"
                     /db_xref="GeneID:1510"
                     /db_xref="HGNC:HGNC:2530"
                     /db_xref="MIM:116890"
     exon            1..172
                     /gene="CTSE"
                     /gene_synonym="CATE"
                     /inference="alignment:Splign:2.1.0"
     CDS             105..1295
                     /gene="CTSE"
                     /gene_synonym="CATE"
                     /EC_number="3.4.23.34"
                     /note="isoform a preproprotein is encoded by transcript
                     variant 1; erythrocyte membrane aspartic proteinase;
                     slow-moving proteinase"
                     /codon_start=1
                     /product="cathepsin E isoform a preproprotein"
                     /protein_id="NP_001901.1"
                     /db_xref="CCDS:CCDS73013.1"
                     /db_xref="GeneID:1510"
                     /db_xref="HGNC:HGNC:2530"
                     /db_xref="MIM:116890"
                     /translation="MKTLLLLLLVLLELGEAQGSLHRVPLRRHPSLKKKLRARSQLSE
                     FWKSHNLDMIQFTESCSMDQSAKEPLINYLDMEYFGTISIGSPPQNFTVIFDTGSSNL
                     WVPSVYCTSPACKTHSRFQPSQSSTYSQPGQSFSIQYGTGSLSGIIGADQVSVEGLTV
                     VGQQFGESVTEPGQTFVDAEFDGILGLGYPSLAVGGVTPVFDNMMAQNLVDLPMFSVY
                     MSSNPEGGAGSELIFGGYDHSHFSGSLNWVPVTKQAYWQIALDNIQVGGTVMFCSEGC
                     QAIVDTGTSLITGPSDKIKQLQNAIGAAPVDGEYAVECANLNVMPDVTFTINGVPYTL
                     SPTAYTLLDFVDGMQFCSSGFQGLDIHPPAGPLWILGDVFIRQFYSVFDRGNNRVGLA
                     PAVP"
     exon            173..329
                     /gene="CTSE"
                     /gene_synonym="CATE"
                     /inference="alignment:Splign:2.1.0"
     exon            330..447
                     /gene="CTSE"
                     /gene_synonym="CATE"
                     /inference="alignment:Splign:2.1.0"
     exon            448..566
                     /gene="CTSE"
                     /gene_synonym="CATE"
                     /inference="alignment:Splign:2.1.0"
     exon            567..766
                     /gene="CTSE"
                     /gene_synonym="CATE"
                     /inference="alignment:Splign:2.1.0"
     exon            767..889
                     /gene="CTSE"
                     /gene_synonym="CATE"
                     /inference="alignment:Splign:2.1.0"
     exon            890..1031
                     /gene="CTSE"
                     /gene_synonym="CATE"
                     /inference="alignment:Splign:2.1.0"
     exon            1032..1130
                     /gene="CTSE"
                     /gene_synonym="CATE"
                     /inference="alignment:Splign:2.1.0"
     exon            1131..2214
                     /gene="CTSE"
                     /gene_synonym="CATE"
                     /inference="alignment:Splign:2.1.0"
     regulatory      2025..2030
                     /regulatory_class="polyA_signal_sequence"
                     /gene="CTSE"
                     /gene_synonym="CATE"
                     /note="hexamer: TATAAA"
     polyA_site      2048
                     /gene="CTSE"
                     /gene_synonym="CATE"
                     /note="major polyA site"
     regulatory      2194..2199
                     /regulatory_class="polyA_signal_sequence"
                     /gene="CTSE"
                     /gene_synonym="CATE"
                     /note="hexamer: ATTACA"
     polyA_site      2214
                     /gene="CTSE"
                     /gene_synonym="CATE"
ORIGIN      
        1 agactgggct gggcaggtct gagagttagg gaaagtccgt tcccactgcc ctcggggaga
       61 gaagaaagga gggggcaagg gagaagctgc tggtcggact cacaatgaaa acgctccttc
      121 ttttgctgct ggtgctcctg gagctgggag aggcccaagg atcccttcac agggtgcccc
      181 tcaggaggca tccgtccctc aagaagaagc tgcgggcacg gagccagctc tctgagttct
      241 ggaaatccca taatttggac atgatccagt tcaccgagtc ctgctcaatg gaccagagtg
      301 ccaaggaacc cctcatcaac tacttggata tggaatactt cggcactatc tccattggct
      361 ccccaccaca gaacttcact gtcatcttcg acactggctc ctccaacctc tgggtcccct
      421 ctgtgtactg cactagccca gcctgcaaga cgcacagcag gttccagcct tcccagtcca
      481 gcacatacag ccagccaggt caatctttct ccattcagta tggaaccggg agcttgtccg
      541 ggatcattgg agccgaccaa gtctctgtgg aaggactaac cgtggttggc cagcagtttg
      601 gagaaagtgt cacagagcca ggccagacct ttgtggatgc agagtttgat ggaattctgg
      661 gcctgggata cccctccttg gctgtgggag gagtgactcc agtatttgac aacatgatgg
      721 ctcagaacct ggtggacttg ccgatgtttt ctgtctacat gagcagtaac ccagaaggtg
      781 gtgcggggag cgagctgatt tttggaggct acgaccactc ccatttctct gggagcctga
      841 attgggtccc agtcaccaag caagcttact ggcagattgc actggataac atccaggtgg
      901 gaggcactgt tatgttctgc tccgagggct gccaggccat tgtggacaca gggacttccc
      961 tcatcactgg cccttccgac aagattaagc agctgcaaaa cgccattggg gcagcccccg
     1021 tggatggaga atatgctgtg gagtgtgcca accttaacgt catgccggat gtcaccttca
     1081 ccattaacgg agtcccctat accctcagcc caactgccta caccctactg gacttcgtgg
     1141 atggaatgca gttctgcagc agtggctttc aaggacttga catccaccct ccagctgggc
     1201 ccctctggat cctgggggat gtcttcattc gacagtttta ctcagtcttt gaccgtggga
     1261 ataaccgtgt gggactggcc ccagcagtcc cctaaggagg ggccttgtgt ctgtgcctgc
     1321 ctgtctgaca gaccttgaat atgttaggct ggggcattct ttacacctac aaaaagttat
     1381 tttccagaga atgtagctgt ttccagggtt gcaacttgaa ttaagaccaa acagaacatg
     1441 agaatacaca cacacacaca catatacaca cacacacact tcacacatac acaccactcc
     1501 caccaccgtc atgatggagg aattacgtta tacattcata ttttgtattg atttttgatt
     1561 atgaaaatca aaaattttca catttgatta tgaaaatctc caaacatatg cacaagcaga
     1621 gatcatggta taataaatcc ctttgcaact ccactcagcc ctgacaaccc atccacacac
     1681 ggccaggcct gtttatctac actgctgccc actcctctct ccagctccac atgctgtacc
     1741 tggatcattc tgaagcaaat tccgagcatt acatcatttt gtccataaat atttctaaca
     1801 tccttaaata tacaatcgga attcaagcat ctcccattgt cccacaaatg tttggctgtt
     1861 tttgtagttg gattgtttgt attaggattc aagcaaggcc catatattgc atttatttga
     1921 aatgtctgta agtctctttc catctacaga gtttagcaca tttgaacgtt gctggttgaa
     1981 atcccgaggt gtcatttgac atggttctct gaacttatct ttcctataaa atggtagtta
     2041 gatctggagg tctgattttg tggcaaaaat acttcctagg tggtgctggg tacttcttgt
     2101 tgcatcctgt caggaggcag ataatgctgg tgcctctcta ttggtaatgt taagactgct
     2161 gggtgggttt ggagttcttg gctttaatca ttcattacaa agttcagcat ttta
//
