LOCUS       NM_005046               1955 bp    mRNA    linear   PRI 11-JUN-2024
DEFINITION  Homo sapiens kallikrein related peptidase 7 (KLK7), transcript
            variant 1, mRNA.
ACCESSION   NM_005046
VERSION     NM_005046.4
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 1955)
  AUTHORS   Shanmugam,A., Rudasill,J. and Criswell,S.
  TITLE     Increase of KLK7, cytokeratin 5/6, and elafin expression in head
            and neck squamous cell carcinoma compared with lung squamous cell
            carcinoma
  JOURNAL   J Histotechnol 47 (2), 80-86 (2024)
   PUBMED   38189409
  REMARK    GeneRIF: Increase of KLK7, cytokeratin 5/6, and elafin expression
            in head and neck squamous cell carcinoma compared with lung
            squamous cell carcinoma.
REFERENCE   2  (bases 1 to 1955)
  AUTHORS   Xiang,F., Wang,Y., Cao,C., Li,Q., Deng,H., Zheng,J., Liu,X. and
            Tan,X.
  TITLE     The Role of Kallikrein 7 in Tumorigenesis
  JOURNAL   Curr Med Chem 29 (15), 2617-2631 (2022)
   PUBMED   34525904
  REMARK    GeneRIF: The Role of Kallikrein 7 in Tumorigenesis.
            Review article
REFERENCE   3  (bases 1 to 1955)
  AUTHORS   Tian,J., Wang,V., Wang,N., Khadang,B., Boudreault,J., Bakdounes,K.,
            Ali,S. and Lebrun,J.J.
  TITLE     Identification of MFGE8 and KLK5/7 as mediators of breast
            tumorigenesis and resistance to COX-2 inhibition
  JOURNAL   Breast Cancer Res 23 (1), 23 (2021)
   PUBMED   33588911
  REMARK    GeneRIF: Identification of MFGE8 and KLK5/7 as mediators of breast
            tumorigenesis and resistance to COX-2 inhibition.
            Publication Status: Online-Only
REFERENCE   4  (bases 1 to 1955)
  AUTHORS   Vasilopoulos,Y., Cork,M.J., Murphy,R., Williams,H.C.,
            Robinson,D.A., Duff,G.W., Ward,S.J. and Tazi-Ahnini,R.
  TITLE     Genetic association between an AACC insertion in the 3'UTR of the
            stratum corneum chymotryptic enzyme gene and atopic dermatitis
  JOURNAL   J Invest Dermatol 123 (1), 62-66 (2004)
   PUBMED   15191543
  REMARK    GeneRIF: The AACC insertion in the SCCE gene may result in a change
            to SCCE activity within the skin barrier so SCCE could have an
            important role in the development of atopic dermatitis.
            GeneRIF: Observational study of gene-disease association. (HuGE
            Navigator)
REFERENCE   5  (bases 1 to 1955)
  AUTHORS   Dong,Y., Kaushal,A., Brattsand,M., Nicklin,J. and Clements,J.A.
  TITLE     Differential splicing of KLK5 and KLK7 in epithelial ovarian cancer
            produces novel variants with potential as cancer biomarkers
  JOURNAL   Clin Cancer Res 9 (5), 1710-1720 (2003)
   PUBMED   12738725
  REMARK    GeneRIF: High expression of KLK7 transcript with a long
            3'-untranslated region is associated with ovarian cancer
REFERENCE   6  (bases 1 to 1955)
  AUTHORS   Gan,L., Lee,I., Smith,R., Argonza-Barrett,R., Lei,H., McCuaig,J.,
            Moss,P., Paeper,B. and Wang,K.
  TITLE     Sequencing and expression analysis of the serine protease gene
            cluster located in chromosome 19q13 region
  JOURNAL   Gene 257 (1), 119-130 (2000)
   PUBMED   11054574
REFERENCE   7  (bases 1 to 1955)
  AUTHORS   Yousef,G.M., Scorilas,A., Magklara,A., Soosaipillai,A. and
            Diamandis,E.P.
  TITLE     The KLK7 (PRSS6) gene, encoding for the stratum corneum
            chymotryptic enzyme is a new member of the human kallikrein gene
            family - genomic characterization, mapping, tissue expression and
            hormonal regulation
  JOURNAL   Gene 254 (1-2), 119-128 (2000)
   PUBMED   10974542
REFERENCE   8  (bases 1 to 1955)
  AUTHORS   Skytt,A., Stromqvist,M. and Egelrud,T.
  TITLE     Primary substrate specificity of recombinant human stratum corneum
            chymotryptic enzyme
  JOURNAL   Biochem Biophys Res Commun 211 (2), 586-589 (1995)
   PUBMED   7794273
REFERENCE   9  (bases 1 to 1955)
  AUTHORS   Hansson,L., Stromqvist,M., Backman,A., Wallbrandt,P., Carlstein,A.
            and Egelrud,T.
  TITLE     Cloning, expression, and characterization of stratum corneum
            chymotryptic enzyme. A skin-specific human serine proteinase
  JOURNAL   J Biol Chem 269 (30), 19420-19426 (1994)
   PUBMED   8034709
REFERENCE   10 (bases 1 to 1955)
  AUTHORS   Egelrud,T.
  TITLE     Purification and preliminary characterization of stratum corneum
            chymotryptic enzyme: a proteinase that may be involved in
            desquamation
  JOURNAL   J Invest Dermatol 101 (2), 200-204 (1993)
   PUBMED   8393902
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AF411214.1, AI049783.1 and
            AC011483.7.
            
            On Nov 22, 2018 this sequence version replaced NM_005046.3.
            
            Summary: This gene encodes a member of the kallikrein subfamily of
            serine proteases. These enzymes have diverse physiological
            functions and many kallikrein genes are biomarkers for cancer. The
            encoded protein has chymotrypsin-like activity and plays a role in
            the proteolysis of intercellular cohesive structures that precedes
            desquamation, the shedding of the outermost layer of the epidermis.
            The encoded protein may play a role in cancer invasion and
            metastasis, and increased expression of this gene is associated
            with unfavorable prognosis and progression of several types of
            cancer. Polymorphisms in this gene may play a role in the
            development of atopic dermatitis. Alternatively spliced transcript
            variants encoding multiple isoforms have been observed for this
            gene, which is one of fifteen kallikrein subfamily members located
            in a gene cluster on chromosome 19. [provided by RefSeq, May 2011].
            
            Transcript Variant: This variant (1) represents the longest
            transcript and encodes the longer isoform (1). Variants 1 and 2
            encode the same isoform.
            
            Sequence Note: This RefSeq record was created from transcript
            sequence data to make the sequence consistent with the reference
            genome assembly, which represents the 'AACCAACC' allele with
            regards to the 3' UTR polymorphism described in PMID 15191543.
            
            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 :: SRR1803614.191041.1,
                                           SRR3476690.6584.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA2147596 [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000595820.6/ ENSP00000470538.1
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-1635              AF411214.1         122-1756
            1636-1944           AI049783.1         14-322              c
            1945-1955           AC011483.7         81810-81820         c
FEATURES             Location/Qualifiers
     source          1..1955
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="19"
                     /map="19q13.41"
     gene            1..1955
                     /gene="KLK7"
                     /gene_synonym="hK7; PRSS6; SCCE"
                     /note="kallikrein related peptidase 7"
                     /db_xref="GeneID:5650"
                     /db_xref="HGNC:HGNC:6368"
                     /db_xref="MIM:604438"
     exon            1..67
                     /gene="KLK7"
                     /gene_synonym="hK7; PRSS6; SCCE"
                     /inference="alignment:Splign:2.1.0"
     exon            68..198
                     /gene="KLK7"
                     /gene_synonym="hK7; PRSS6; SCCE"
                     /inference="alignment:Splign:2.1.0"
     CDS             126..887
                     /gene="KLK7"
                     /gene_synonym="hK7; PRSS6; SCCE"
                     /EC_number="3.4.21.117"
                     /note="isoform 1 preproprotein is encoded by transcript
                     variant 1; kallikrein 7 (chymotryptic, stratum corneum);
                     kallikrein-7; signal protein; serine protease 6; stratum
                     corneum chymotryptic enzyme"
                     /codon_start=1
                     /product="kallikrein-7 isoform 1 preproprotein"
                     /protein_id="NP_005037.1"
                     /db_xref="CCDS:CCDS12812.1"
                     /db_xref="GeneID:5650"
                     /db_xref="HGNC:HGNC:6368"
                     /db_xref="MIM:604438"
                     /translation="MARSLLLPLQILLLSLALETAGEEAQGDKIIDGAPCARGSHPWQ
                     VALLSGNQLHCGGVLVNERWVLTAAHCKMNEYTVHLGSDTLGDRRAQRIKASKSFRHP
                     GYSTQTHVNDLMLVKLNSQARLSSMVKKVRLPSRCEPPGTTCTVSGWGTTTSPDVTFP
                     SDLMCVDVKLISPQDCTKVYKDLLENSMLCAGIPDSKKNACNGDSGGPLVCRGTLQGL
                     VSWGTFPCGQPNDPGVYTQVCKFTKWINDTMKKHR"
     exon            199..346
                     /gene="KLK7"
                     /gene_synonym="hK7; PRSS6; SCCE"
                     /inference="alignment:Splign:2.1.0"
     exon            347..594
                     /gene="KLK7"
                     /gene_synonym="hK7; PRSS6; SCCE"
                     /inference="alignment:Splign:2.1.0"
     exon            595..731
                     /gene="KLK7"
                     /gene_synonym="hK7; PRSS6; SCCE"
                     /inference="alignment:Splign:2.1.0"
     exon            732..1955
                     /gene="KLK7"
                     /gene_synonym="hK7; PRSS6; SCCE"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1060..1065
                     /regulatory_class="polyA_signal_sequence"
                     /gene="KLK7"
                     /gene_synonym="hK7; PRSS6; SCCE"
                     /note="hexamer: AATAAA"
     polyA_site      1082
                     /gene="KLK7"
                     /gene_synonym="hK7; PRSS6; SCCE"
                     /note="major polyA site"
     regulatory      1923..1928
                     /regulatory_class="polyA_signal_sequence"
                     /gene="KLK7"
                     /gene_synonym="hK7; PRSS6; SCCE"
                     /note="hexamer: AATAAA"
     polyA_site      1955
                     /gene="KLK7"
                     /gene_synonym="hK7; PRSS6; SCCE"
                     /note="major polyA site"
ORIGIN      
        1 gaagattttg gagcccagct gtgtgccagc ccaagtcgga acttggatca catcagatcc
       61 tctcgagctc cagcaggaga ggcccttcct cgcctggcag cccctgagcg gctcagcagg
      121 gcaccatggc aagatccctt ctcctgcccc tgcagatctt actgctatcc ttagccttgg
      181 aaactgcagg agaagaagcc cagggtgaca agattattga tggcgcccca tgtgcaagag
      241 gctcccaccc atggcaggtg gccctgctca gtggcaatca gctccactgc ggaggcgtcc
      301 tggtcaatga gcgctgggtg ctcactgccg cccactgcaa gatgaatgag tacaccgtgc
      361 acctgggcag tgatacgctg ggcgacagga gagctcagag gatcaaggcc tcgaagtcat
      421 tccgccaccc cggctactcc acacagaccc atgttaatga cctcatgctc gtgaagctca
      481 atagccaggc caggctgtca tccatggtga agaaagtcag gctgccctcc cgctgcgaac
      541 cccctggaac cacctgtact gtctccggct ggggcactac cacgagccca gatgtgacct
      601 ttccctctga cctcatgtgc gtggatgtca agctcatctc cccccaggac tgcacgaagg
      661 tttacaagga cttactggaa aattccatgc tgtgcgctgg catccccgac tccaagaaaa
      721 acgcctgcaa tggtgactca gggggaccgt tggtgtgcag aggtaccctg caaggtctgg
      781 tgtcctgggg aactttccct tgcggccaac ccaatgaccc aggagtctac actcaagtgt
      841 gcaagttcac caagtggata aatgacacca tgaaaaagca tcgctaacgc cacactgagt
      901 taattaactg tgtgcttcca acagaaaatg cacaggagtg aggacgccga tgacctatga
      961 agtcaaattt gactttacct ttcctcaaag atatatttaa accaacctca tgccctgttg
     1021 ataaaccaat caaattggta aagacctaaa accaaaacaa ataaagaaac acaaaaccct
     1081 cagtgctgga gaagagtcag tgagaccagc actctcaaac actggaactg gacgttcgta
     1141 cagtctttac ggaagacact tggtcaacgt acaccgagac ccttattcac cacctttgac
     1201 ccagtaactc taatcttagg aagaacctac tgaaacaaaa aaaatccaaa atgtagaaca
     1261 agacttgaat ttaccatgat attatttatc acagaaatga agtgaaacca tcaaacatgt
     1321 tccaaaagta ccagatggct taaataatag tctggcttgg cacaacgatg ttttttttct
     1381 ttgagacaga gtctctgttg cttgggctgc aatgcagtga tgcaatcttg gctcactgca
     1441 acctccgcct cctgggttca agtgattctc gtgcttcagc ctcccaagta cctgggacta
     1501 caggtgtgca ccaccacacc aggctaattt tttgtgtatt tttactagag acagggtttc
     1561 accatgttgg ccagcatggt cttgaacgcc tgacctcaga tgatccaccc accttggcct
     1621 cccaaagtgc tgggattaca ggcatgagcc accacggcca gcccacaatg atattacaaa
     1681 cctattaaaa atgatactta gacagaattg tcagtattat tcaagaacat ttaggctata
     1741 ggatgttaaa tgacaaaagg aaggacaaaa atatatatgt atgtgaccct acccataaaa
     1801 aatgaaatat tcacagaatc agatctgaaa acacatgtcc cagactgcat actggggtcg
     1861 tcatgaggtg tctccttcct tctgtgtact tttccttgaa tgtgcacttt tataacatga
     1921 aaaataaagg tggggaaaaa agtctgaaga tctaa
//
