LOCUS       NM_028623               3951 bp    mRNA    linear   ROD 30-APR-2024
DEFINITION  Mus musculus cystatin E/M (Cst6), mRNA.
ACCESSION   NM_028623
VERSION     NM_028623.5
KEYWORDS    RefSeq; RefSeq Select.
SOURCE      Mus musculus (house mouse)
  ORGANISM  Mus musculus
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha;
            Muroidea; Muridae; Murinae; Mus; Mus.
REFERENCE   1  (bases 1 to 3951)
  AUTHORS   Adams,D.J., Barlas,B., McIntyre,R.E., Salguero,I., van der
            Weyden,L., Barros,A., Vicente,J.R., Karimpour,N., Haider,A.,
            Ranzani,M., Turner,G., Thompson,N.A., Harle,V., Olvera-Leon,R.,
            Robles-Espinoza,C.D., Speak,A.O., Geisler,N., Weninger,W.J.,
            Geyer,S.H., Hewinson,J., Karp,N.A., Fu,B., Yang,F., Kozik,Z.,
            Choudhary,J., Yu,L., van Ruiten,M.S., Rowland,B.D., Lelliott,C.J.,
            Del Castillo Velasco-Herrera,M., Verstraten,R., Bruckner,L.,
            Henssen,A.G., Rooimans,M.A., de Lange,J., Mohun,T.J., Arends,M.J.,
            Kentistou,K.A., Coelho,P.A., Zhao,Y., Zecchini,H., Perry,J.R.B.,
            Jackson,S.P. and Balmus,G.
  CONSRTM   Sanger Mouse Genetics Project
  TITLE     Genetic determinants of micronucleus formation in vivo
  JOURNAL   Nature 627 (8002), 130-136 (2024)
   PUBMED   38355793
REFERENCE   2  (bases 1 to 3951)
  AUTHORS   Oortveld,M.A.W., van Vlijmen-Willems,I.M.J.J., Kersten,F.F.J.,
            Cheng,T., Verdoes,M., van Erp,P.E.J., Verbeek,S., Reinheckel,T.,
            Hendriks,W.J.A.J., Schalkwijk,J. and Zeeuwen,P.L.J.M.
  TITLE     Cathepsin B as a potential cystatin M/E target in the mouse hair
            follicle
  JOURNAL   FASEB J 31 (10), 4286-4294 (2017)
   PUBMED   28596234
  REMARK    GeneRIF: Using quenched activity-based probes, we identified mouse
            cathepsin B (CtsB), which is expressed in the lower regions of the
            hair follicle, as an additional target of mouse Cst6
REFERENCE   3  (bases 1 to 3951)
  AUTHORS   Veniaminova,N.A., Vagnozzi,A.N., Kopinke,D., Do,T.T.,
            Murtaugh,L.C., Maillard,I., Dlugosz,A.A., Reiter,J.F. and Wong,S.Y.
  TITLE     Keratin 79 identifies a novel population of migratory epithelial
            cells that initiates hair canal morphogenesis and regeneration
  JOURNAL   Development 140 (24), 4870-4880 (2013)
   PUBMED   24198274
REFERENCE   4  (bases 1 to 3951)
  AUTHORS   Zeeuwen,P.L., van Vlijmen-Willems,I.M., Cheng,T.,
            Rodijk-Olthuis,D., Hitomi,K., Hara-Nishimura,I., John,S., Smyth,N.,
            Reinheckel,T., Hendriks,W.J. and Schalkwijk,J.
  TITLE     The cystatin M/E-cathepsin L balance is essential for tissue
            homeostasis in epidermis, hair follicles, and cornea
  JOURNAL   FASEB J 24 (10), 3744-3755 (2010)
   PUBMED   20495178
  REMARK    GeneRIF: conclude that a tightly regulated balance between
            cathepsin L and cystatin M/E is essential for tissue integrity in
            epidermis, hair follicles, and corneal epithelium
REFERENCE   5  (bases 1 to 3951)
  AUTHORS   Zeeuwen,P.L., Cheng,T. and Schalkwijk,J.
  TITLE     The biology of cystatin M/E and its cognate target proteases
  JOURNAL   J Invest Dermatol 129 (6), 1327-1338 (2009)
   PUBMED   19262604
  REMARK    GeneRIF: cystatin M/E has a role in skin barrier formation and a
            potential role as a tumor suppressor gene [review]
            Review article
REFERENCE   6  (bases 1 to 3951)
  AUTHORS   Zeeuwen,P.L., van Vlijmen-Willems,I.M., Olthuis,D., Johansen,H.T.,
            Hitomi,K., Hara-Nishimura,I., Powers,J.C., James,K.E., op den
            Camp,H.J., Lemmens,R. and Schalkwijk,J.
  TITLE     Evidence that unrestricted legumain activity is involved in
            disturbed epidermal cornification in cystatin M/E deficient mice
  JOURNAL   Hum Mol Genet 13 (10), 1069-1079 (2004)
   PUBMED   15044380
REFERENCE   7  (bases 1 to 3951)
  AUTHORS   Dunnwald,M., Zuberi,A.R., Stephens,K., Le,R., Sundberg,J.P.,
            Fleckman,P. and Dale,B.A.
  TITLE     The ichq mutant mouse, a model for the human skin disorder
            harlequin ichthyosis: mapping, keratinocyte culture, and
            consideration of candidate genes involved in epidermal growth
            regulation
  JOURNAL   Exp Dermatol 12 (3), 245-254 (2003)
   PUBMED   12823437
REFERENCE   8  (bases 1 to 3951)
  AUTHORS   Zeeuwen,P.L., van Vlijmen-Willems,I.M., Hendriks,W., Merkx,G.F. and
            Schalkwijk,J.
  TITLE     A null mutation in the cystatin M/E gene of ichq mice causes
            juvenile lethality and defects in epidermal cornification
  JOURNAL   Hum Mol Genet 11 (23), 2867-2875 (2002)
   PUBMED   12393798
REFERENCE   9  (bases 1 to 3951)
  AUTHORS   Sundberg,J.P., Boggess,D., Hogan,M.E., Sundberg,B.A., Rourk,M.H.,
            Harris,B., Johnson,K., Dunstan,R.W. and Davisson,M.T.
  TITLE     Harlequin ichthyosis (ichq): a juvenile lethal mouse mutation with
            ichthyosiform dermatitis
  JOURNAL   Am J Pathol 151 (1), 293-310 (1997)
   PUBMED   9212754
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AC122861.4.
            
            On Oct 19, 2007 this sequence version replaced NM_028623.4.
            
            Sequence Note: The RefSeq transcript and protein were derived from
            genomic sequence to make the sequence consistent with the reference
            genome assembly. The genomic coordinates used for the transcript
            record were based on alignments.
            
            ##Evidence-Data-START##
            Transcript exon combination :: AK078116.1, BC061036.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMN00849375,
                                           SAMN00849376 [ECO:0006172]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-480               AC122861.4         83600-84079         c
            481-606             AC122861.4         82902-83027         c
            607-3951            AC122861.4         79210-82554         c
FEATURES             Location/Qualifiers
     source          1..3951
                     /organism="Mus musculus"
                     /mol_type="mRNA"
                     /strain="C57BL/6"
                     /db_xref="taxon:10090"
                     /chromosome="19"
                     /map="19 4.3 cM"
     gene            1..3951
                     /gene="Cst6"
                     /gene_synonym="1110017E11Rik; ichq"
                     /note="cystatin E/M"
                     /db_xref="GeneID:73720"
                     /db_xref="MGI:MGI:1920970"
     exon            1..480
                     /gene="Cst6"
                     /gene_synonym="1110017E11Rik; ichq"
                     /inference="alignment:Splign:2.1.0"
     CDS             241..690
                     /gene="Cst6"
                     /gene_synonym="1110017E11Rik; ichq"
                     /note="cystatin M; harlequin ichthyosis; harlequin
                     ichthysosis"
                     /codon_start=1
                     /product="cystatin-M precursor"
                     /protein_id="NP_082899.1"
                     /db_xref="CCDS:CCDS29457.1"
                     /db_xref="GeneID:73720"
                     /db_xref="MGI:MGI:1920970"
                     /translation="MERPHFPLAMGLGLLAFCLLTLSPDARAELRSRRTGERQNLSPT
                     DPRVQKAAQAAVASYNMGSDSLYYFRDTKVIDAKYQLVAGIKYYLTLDIESTECRKTR
                     VSGEHMDLTTCPLAAGGQQEKLRCNFELLEVPWKNTTQLLKHDCVQV"
     exon            481..606
                     /gene="Cst6"
                     /gene_synonym="1110017E11Rik; ichq"
                     /inference="alignment:Splign:2.1.0"
     exon            607..3951
                     /gene="Cst6"
                     /gene_synonym="1110017E11Rik; ichq"
                     /inference="alignment:Splign:2.1.0"
     regulatory      773..778
                     /regulatory_class="polyA_signal_sequence"
                     /gene="Cst6"
                     /gene_synonym="1110017E11Rik; ichq"
                     /note="hexamer: AATAAA"
     polyA_site      799
                     /gene="Cst6"
                     /gene_synonym="1110017E11Rik; ichq"
ORIGIN      
        1 ctctccctcc tgggagatag gaatgatagg ccagcatctc tacacgtaga ggttctggga
       61 cctgtgtgcc atctctggtt cttacactgc gtaggtaggg gaggtgcacc cgcctccagg
      121 cacctgcaag ctggtccagg cttgctaagg aaacaagcag gcgttgggcg gggccgggag
      181 gggcccgcga aggctgtaaa agccgcgcag gatggaagtc cagacactga atccgcggct
      241 atggagcgtc ctcacttccc gctggcgatg ggccttggcc tgctcgcatt ctgcctcctg
      301 accctgtcac ctgacgcccg cgccgagctg cggagccgca ggaccggaga acgccagaac
      361 ttgtcaccca ccgacccgcg ggtgcaaaag gccgcacagg cagctgtggc cagctacaat
      421 atgggcagcg acagcctcta ctacttccga gacaccaaag tcatcgatgc aaaatatcag
      481 ctggtggctg gcatcaagta ctacctgact ttggacatag aaagcacaga gtgccgaaag
      541 accagagtct ctggagaaca catggacctc accacctgcc ctctggctgc aggggggcag
      601 caggagaaac tgcgttgcaa ctttgagctc cttgaagtcc cctggaagaa cactactcag
      661 cttctaaagc atgactgcgt gcaggtgtga ccggccccag ggtgacagag tcagggcccc
      721 atgggaacaa gcatggtgga ggcgcctcag ggccacgggc cacgtctgtt gcaataaatc
      781 tgcagctctg cttcttgcac tgctttctcc tgtgtgtttc actcaccctg accctcactc
      841 tgctcccagt gactctcaga accccacagc tgactgggca ccatgtcctt accctccagg
      901 ggagccccta ctgatccctc tgaggcagta ctgagggtag ggtcctcaga ggaagcccct
      961 cttccagaca ttttcagtgg tctcagagga ggaaagaaag acacagaaga tggataccgg
     1021 agactagcta cagtagggat gtctgtgtga gccagtccag cctctctccc agggttcatg
     1081 ctgggactcc gaggaggagg gtgtcaaaac ctggggtcag gagggtcgca aagcctgatg
     1141 gctcagacca gtgagttttt tagtgacaca gctcttgtta ttgccctcaa atggtgaagc
     1201 agcaaagagc accagccagc ggcttacagg gccctcatga gaccttgctt gcttttagca
     1261 aggtacattc tgcgacagca gcaaagcctt tcatatctcg gtagctggaa tgtttttctt
     1321 tttttctgag gaagggtttc tctgcatagc cctagctgtc ttagcactca ctctgtagac
     1381 caggctggcc tcaaactgag aggtccacct gcctccgcct cccaagtgct gggatcacag
     1441 gcacgcacca ttccaactca gcatgtctgg aacatttgac cacatatata ttgggggaat
     1501 gtcaagttct cagactacag ccctctaagg ccccgacacc aggccttatg ggcatgactg
     1561 tggctacatg agggacctcc aagcagtctc caatccagtc cagtcccctc atcagctagc
     1621 ttgtgaaggg aagcccctat cctgctgaac tctcagtacc aaacagttgt gtaagatggc
     1681 tgctcaactc catgggccct acaggactgg gtttccagct cacaaagatt ctcgtatgta
     1741 ctggcagctg gaggtgactt tctctcctga gttccttagg ccagaggtca tgaagccagt
     1801 acacacccct cacatccttc ccaggggtac tttctcagag ttttgctctg ggaaagattc
     1861 ctaaatgatc ctgagccatg gagttccaga ggggacaaga actgctatcc aggagggatc
     1921 actctcacag gagggacagg gaccagacaa tgtcatgttg gactgaagga agcaggtgtt
     1981 agattctttg taaatttctt tgtagttgta attcttgtta tacacatggt caaacagtta
     2041 ggggaggcag tcccaggacc cattcaggtg cctgtggaca tgtcctgaag atgctagcaa
     2101 cacagcctag agacagaagc agaggcacca ggcagaatgc acacacattg gagaagcatt
     2161 aagtaaccca gagatgagta tacagcaccc ctccctccaa gccagcattt acatcacatc
     2221 cagaagtctt gttcagatac accaacatgc atctaacctg gggacaggcc atagtcacca
     2281 gttgctttga aggtgctagg ctcaagctgg catcactggg gtagcaggga gggtaaccag
     2341 acagccactc ttcactatct cacacttcct tcctaagaaa ggtctcacac ctaacttgtt
     2401 cctgtctgac tctcccaccc cacttctgtg acctcatgaa caccagggca gctggggttc
     2461 catctactgc cttcaaaggc cacgtcatgg aggaaatgga ggccgagtgt cacctgggaa
     2521 acctgacaca ccgagggact ggatttgata ttgagagggg actcgcagcc ctgcttctac
     2581 tggaacctga tacccatgac agtgcagttt gtgctatgca gtcactgctt ggaaggtttc
     2641 ccaagttcca tcaactagaa gataccaagc atggagccag tatagggcag gtgacaggaa
     2701 atacttgttg aatgaatgtg tgagggctag gggaggcaag agtcaggaca tctgtctcta
     2761 gtggcttctc cacccctgga atcagtgccc aaatcccaga tggtatttcc tctgctttat
     2821 gtattcctgg gcatgactaa gcaagggtta gtgagaggag cctccaccaa gcgatgctct
     2881 gtcttaagtt tctggagaaa gaactgctgc ctggaacaaa ccaatggtgt gtgtgggtgt
     2941 tggtcaaacc accagtctcc aacctccaca accctctaga ttggcctcta ctaagagcaa
     3001 tatggttaga aatgatggaa gatggctgac ccttgatggg gagcccctga gccagaactg
     3061 agtttcacct cgactcaatg ctcagtatag acaagagtcc cattgtgtcc cactgtggac
     3121 acaggctctg gacatcctgc ctgggctccg atgagtcaga cccttgggac tcatctgagc
     3181 cttaaagcag ctgggcagaa gtagccattc attgtctttg gccctctccc aaaagcaact
     3241 ggtccttgtc acatggccct gtctccatcc actagaagga taagaggcct tctctaggcc
     3301 tccactaagg ttgtgcggct cacttcagtg gggaaggtga tgtcagtgac ctttaattta
     3361 caggggttta aagaatttta ttttaattta aatgtttttg tctctgtgtg tggattgtac
     3421 atgtgagtgc agtgcccacg gagaccagcg ggtcctttag atctgagtta caggtggctg
     3481 taagcagtct gatgtgggta ctgggaactg cacttgactc cttctgaaga gcaggaagtg
     3541 atcttgccct ctaaggtcca agccatctcc acagctcttc tagctctctt ttaaacctct
     3601 ggttccttta aattatttgt ttatttttgt tttttcaaga cagggtgtct gtgtgtagct
     3661 ctggctgttg tggaactcat tttgtagacc agacctcaaa ctcagagatc catttgcctc
     3721 tgcctcccaa atgcttgggt taaaggtatg tgccaatgta cctggccctt tgggtttttg
     3781 aggggtttgc ttgtttgctt ttgttttgtt ttgttttgtt ttgttttgtt ttgttttgtt
     3841 tttgtttttc aagacaggat ttctctgtgt gtagccttgg ctgtcctgga actcacagtt
     3901 ccacctgcct ctgattctcc agtactggga ttaaaggcat gtgtcaccaa c
//
