LOCUS       NM_004568               1315 bp    mRNA    linear   PRI 10-APR-2024
DEFINITION  Homo sapiens serpin family B member 6 (SERPINB6), transcript
            variant 1, mRNA.
ACCESSION   NM_004568
VERSION     NM_004568.6
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 1315)
  AUTHORS   Glavey,S.V., Naba,A., Manier,S., Clauser,K., Tahri,S., Park,J.,
            Reagan,M.R., Moschetta,M., Mishima,Y., Gambella,M., Rocci,A.,
            Sacco,A., O'Dwyer,M.E., Asara,J.M., Palumbo,A., Roccaro,A.M.,
            Hynes,R.O. and Ghobrial,I.M.
  TITLE     Proteomic characterization of human multiple myeloma bone marrow
            extracellular matrix
  JOURNAL   Leukemia 31 (11), 2426-2434 (2017)
   PUBMED   28344315
REFERENCE   2  (bases 1 to 1315)
  AUTHORS   Naba,A., Pearce,O.M.T., Del Rosario,A., Ma,D., Ding,H., Rajeeve,V.,
            Cutillas,P.R., Balkwill,F.R. and Hynes,R.O.
  TITLE     Characterization of the Extracellular Matrix of Normal and Diseased
            Tissues Using Proteomics
  JOURNAL   J Proteome Res 16 (8), 3083-3091 (2017)
   PUBMED   28675934
REFERENCE   3  (bases 1 to 1315)
  AUTHORS   Barallobre-Barreiro,J., Oklu,R., Lynch,M., Fava,M., Baig,F.,
            Yin,X., Barwari,T., Potier,D.N., Albadawi,H., Jahangiri,M.,
            Porter,K.E., Watkins,M.T., Misra,S., Stoughton,J. and Mayr,M.
  TITLE     Extracellular matrix remodelling in response to venous
            hypertension: proteomics of human varicose veins
  JOURNAL   Cardiovasc Res 110 (3), 419-430 (2016)
   PUBMED   27068509
REFERENCE   4  (bases 1 to 1315)
  AUTHORS   Heit,C., Jackson,B.C., McAndrews,M., Wright,M.W., Thompson,D.C.,
            Silverman,G.A., Nebert,D.W. and Vasiliou,V.
  TITLE     Update of the human and mouse SERPIN gene superfamily
  JOURNAL   Hum Genomics 7 (1), 22 (2013)
   PUBMED   24172014
  REMARK    Review article
            Publication Status: Online-Only
REFERENCE   5  (bases 1 to 1315)
  AUTHORS   Sirmaci,A., Erbek,S., Price,J., Huang,M., Duman,D., Cengiz,F.B.,
            Bademci,G., Tokgoz-Yilmaz,S., Hismi,B., Ozdag,H., Ozturk,B.,
            Kulaksizoglu,S., Yildirim,E., Kokotas,H., Grigoriadou,M.,
            Petersen,M.B., Shahin,H., Kanaan,M., King,M.C., Chen,Z.Y.,
            Blanton,S.H., Liu,X.Z., Zuchner,S., Akar,N. and Tekin,M.
  TITLE     A truncating mutation in SERPINB6 is associated with
            autosomal-recessive nonsyndromic sensorineural hearing loss
  JOURNAL   Am J Hum Genet 86 (5), 797-804 (2010)
   PUBMED   20451170
  REMARK    GeneRIF: A truncating mutation in SERPINB6 is associated with
            autosomal-recessive nonsyndromic sensorineural hearing loss.
REFERENCE   6  (bases 1 to 1315)
  AUTHORS   Sun,J., Coughlin,P., Salem,H.H. and Bird,P.
  TITLE     Production and characterization of recombinant human proteinase
            inhibitor 6 expressed in Pichia pastoris
  JOURNAL   Biochim Biophys Acta 1252 (1), 28-34 (1995)
   PUBMED   7548163
REFERENCE   7  (bases 1 to 1315)
  AUTHORS   Coughlin,P., Nicholl,J., Sun,J., Salem,H., Bird,P. and
            Sutherland,G.R.
  TITLE     Chromosomal mapping of the human proteinase inhibitor 6 (PI6) gene
            to 6p25 by fluorescence in situ hybridization
  JOURNAL   Genomics 26 (2), 431-433 (1995)
   PUBMED   7601482
REFERENCE   8  (bases 1 to 1315)
  AUTHORS   Morgenstern,K.A., Sprecher,C., Holth,L., Foster,D., Grant,F.J.,
            Ching,A. and Kisiel,W.
  TITLE     Complementary DNA cloning and kinetic characterization of a novel
            intracellular serine proteinase inhibitor: mechanism of action with
            trypsin and factor Xa as model proteinases
  JOURNAL   Biochemistry 33 (11), 3432-3441 (1994)
   PUBMED   8136380
REFERENCE   9  (bases 1 to 1315)
  AUTHORS   Coughlin,P., Sun,J., Cerruti,L., Salem,H.H. and Bird,P.
  TITLE     Cloning and molecular characterization of a human intracellular
            serine proteinase inhibitor
  JOURNAL   Proc Natl Acad Sci U S A 90 (20), 9417-9421 (1993)
   PUBMED   8415716
REFERENCE   10 (bases 1 to 1315)
  AUTHORS   Morgenstern,K.A., Henzel,W.J., Baker,J.B., Wong,S., Pastuszyn,A.
            and Kisiel,W.
  TITLE     Isolation and characterization of an intracellular serine
            proteinase inhibitor from a monkey kidney epithelial cell line
  JOURNAL   J Biol Chem 268 (29), 21560-21568 (1993)
   PUBMED   8408007
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AL133351.34.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Oct 3, 2019 this sequence version replaced NM_004568.5.
            
            Summary: The protein encoded by this gene is a member of the serpin
            (serine proteinase inhibitor) superfamily, and ovalbumin(ov)-serpin
            subfamily. It was originally discovered as a placental thrombin
            inhibitor. The mouse homolog was found to be expressed in the hair
            cells of the inner ear. Mutations in this gene are associated with
            nonsyndromic progressive hearing loss, suggesting that this serpin
            plays an important role in the inner ear in the protection against
            leakage of lysosomal content during stress, and that loss of this
            protection results in cell death and sensorineural hearing loss.
            Alternatively spliced transcript variants have been found for this
            gene. [provided by RefSeq, Sep 2010].
            
            Transcript Variant: This variant (1) represents the predominant
            transcript. Variants 1, 5-8, and 10 all encode the same isoform
            (a).
            
            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.
            
            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 :: BC098564.1, AK314578.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1968189, SAMEA2144835
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000380539.7/ ENSP00000369912.2
            RefSeq Select criteria :: based on manual assertion, conservation,
                                      expression
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-35                AL133351.34        107497-107531       c
            36-210              AL133351.34        95132-95306         c
            211-357             AL133351.34        91488-91634         c
            358-475             AL133351.34        90556-90673         c
            476-618             AL133351.34        89008-89150         c
            619-774             AL133351.34        84878-85033         c
            775-1315            AL133351.34        84123-84663         c
FEATURES             Location/Qualifiers
     source          1..1315
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="6"
                     /map="6p25.2"
     gene            1..1315
                     /gene="SERPINB6"
                     /gene_synonym="CAP; DFNB91; MSTP057; PI-6; PI6; PTI; SPI3"
                     /note="serpin family B member 6"
                     /db_xref="GeneID:5269"
                     /db_xref="HGNC:HGNC:8950"
                     /db_xref="MIM:173321"
     exon            1..35
                     /gene="SERPINB6"
                     /gene_synonym="CAP; DFNB91; MSTP057; PI-6; PI6; PTI; SPI3"
                     /inference="alignment:Splign:2.1.0"
     exon            36..210
                     /gene="SERPINB6"
                     /gene_synonym="CAP; DFNB91; MSTP057; PI-6; PI6; PTI; SPI3"
                     /inference="alignment:Splign:2.1.0"
     CDS             46..1176
                     /gene="SERPINB6"
                     /gene_synonym="CAP; DFNB91; MSTP057; PI-6; PI6; PTI; SPI3"
                     /note="isoform a is encoded by transcript variant 1;
                     protease inhibitor 6 (placental thrombin inhibitor);
                     serine (or cysteine) proteinase inhibitor, clade B
                     (ovalbumin), member 6; cytoplasmic antiproteinase; serpin
                     peptidase inhibitor, clade B (ovalbumin), member 6"
                     /codon_start=1
                     /product="serpin B6 isoform a"
                     /protein_id="NP_004559.4"
                     /db_xref="CCDS:CCDS4479.1"
                     /db_xref="GeneID:5269"
                     /db_xref="HGNC:HGNC:8950"
                     /db_xref="MIM:173321"
                     /translation="MDVLAEANGTFALNLLKTLGKDNSKNVFFSPMSMSCALAMVYMG
                     AKGNTAAQMAQILSFNKSGGGGDIHQGFQSLLTEVNKTGTQYLLRMANRLFGEKSCDF
                     LSSFRDSCQKFYQAEMEELDFISAVEKSRKHINTWVAEKTEGKIAELLSPGSVDPLTR
                     LVLVNAVYFRGNWDEQFDKENTEERLFKVSKNEEKPVQMMFKQSTFKKTYIGEIFTQI
                     LVLPYVGKELNMIIMLPDETTDLRTVEKELTYEKFVEWTRLDMMDEEEVEVSLPRFKL
                     EESYDMESVLRNLGMTDAFELGKADFSGMSQTDLSLSKVVHKSFVEVNEEGTEAAAAT
                     AAIMMMRCARFVPRFCADHPFLFFIQHSKTNGILFCGRFSSP"
     exon            211..357
                     /gene="SERPINB6"
                     /gene_synonym="CAP; DFNB91; MSTP057; PI-6; PI6; PTI; SPI3"
                     /inference="alignment:Splign:2.1.0"
     exon            358..475
                     /gene="SERPINB6"
                     /gene_synonym="CAP; DFNB91; MSTP057; PI-6; PI6; PTI; SPI3"
                     /inference="alignment:Splign:2.1.0"
     exon            476..618
                     /gene="SERPINB6"
                     /gene_synonym="CAP; DFNB91; MSTP057; PI-6; PI6; PTI; SPI3"
                     /inference="alignment:Splign:2.1.0"
     exon            619..774
                     /gene="SERPINB6"
                     /gene_synonym="CAP; DFNB91; MSTP057; PI-6; PI6; PTI; SPI3"
                     /inference="alignment:Splign:2.1.0"
     exon            775..1315
                     /gene="SERPINB6"
                     /gene_synonym="CAP; DFNB91; MSTP057; PI-6; PI6; PTI; SPI3"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1283..1288
                     /regulatory_class="polyA_signal_sequence"
                     /gene="SERPINB6"
                     /gene_synonym="CAP; DFNB91; MSTP057; PI-6; PI6; PTI; SPI3"
                     /note="hexamer: AATAAA"
     polyA_site      1315
                     /gene="SERPINB6"
                     /gene_synonym="CAP; DFNB91; MSTP057; PI-6; PI6; PTI; SPI3"
                     /note="major polyA site"
ORIGIN      
        1 gcccgccgtt ctgctcgctc gctccccgct ctggagtctg ccatcatgga tgttctcgca
       61 gaagcaaatg gcacctttgc cttaaacctt ttgaaaacgc tgggtaaaga caactcgaag
      121 aatgtgtttt tctcacccat gagcatgtcc tgtgccctgg ccatggtcta catgggggca
      181 aagggaaaca ccgctgcaca gatggcccag atactttctt tcaataaaag tggcggtggt
      241 ggagacatcc accagggctt ccagtctctt ctcaccgaag tgaacaagac tggcacgcag
      301 tacttgctta ggatggccaa caggctcttt ggggaaaagt cttgtgattt cctctcatct
      361 tttagagatt cctgccaaaa attctaccaa gcagagatgg aggagcttga ctttatcagc
      421 gccgtagaga agtccagaaa acacataaac acctgggtag ctgaaaagac agaaggtaaa
      481 attgcggagt tgctctctcc gggctcagtg gatccattga caaggctggt tctggtgaat
      541 gctgtctatt tcagaggaaa ctgggatgaa cagtttgaca aggagaacac cgaggagaga
      601 ctgtttaaag tcagcaagaa tgaggagaaa cctgtgcaaa tgatgtttaa gcaatctact
      661 tttaagaaga cctatatagg agaaatattt acccaaatct tggtgcttcc atatgttggc
      721 aaggaactga atatgatcat catgcttccg gacgagacca ctgacttgag aacggtggag
      781 aaagaactca cttacgagaa gttcgtagaa tggacgaggc tggacatgat ggatgaagag
      841 gaggtggaag tgtccctccc gcggtttaaa ctagaggaaa gctacgacat ggagagtgtc
      901 ctgcgcaacc tgggcatgac tgatgccttc gagctgggca aggcagactt ctctggaatg
      961 tcccagacag acctgtctct gtccaaggtc gtgcacaagt cttttgtgga ggtcaatgag
     1021 gaaggcacgg aggctgcagc cgccacagct gccatcatga tgatgcggtg tgccagattc
     1081 gtcccccgct tctgcgccga ccaccccttc cttttcttca tccagcacag caagaccaac
     1141 gggattctct tctgcggccg cttttcctct ccgtgaggac agggcagtct tggtgtgcag
     1201 cccctctcct ctctgtcccc tgacactcca cagtgtgcct gcaacccaag tggccttatc
     1261 cgtgcagtgg tggcagttca gaaataaagg gcccatttgt gggatgccgc attca
//
