LOCUS       NM_003784               2195 bp    mRNA    linear   PRI 01-OCT-2024
DEFINITION  Homo sapiens serpin family B member 7 (SERPINB7), transcript
            variant 1, mRNA.
ACCESSION   NM_003784
VERSION     NM_003784.4
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 2195)
  AUTHORS   Liu,Y., Liu,J., Chen,Y., Mo,R., Xiang,R., Song,Z., Yang,Y. and
            Chen,Z.
  TITLE     Potential digenic inheritance of SERPINB7 and SERPINA12 variants in
            Chinese patients with Nagashima-type palmoplantar keratosis
  JOURNAL   Br J Dermatol 191 (1), 136-138 (2024)
   PUBMED   38529670
  REMARK    GeneRIF: Potential digenic inheritance of SERPINB7 and SERPINA12
            variants in Chinese patients with Nagashima-type palmoplantar
            keratosis.
REFERENCE   2  (bases 1 to 2195)
  AUTHORS   Lyu,C., Zhang,F., Liu,T., Yu,G., Ge,K., Chen,S., Sheng,D. and
            Sun,Y.
  TITLE     SERPINB7 mutation causes Nagashima-type palmoplantar keratosis and
            its spatiotemporal expression in zebrafish
  JOURNAL   Exp Dermatol 32 (6), 766-776 (2023)
   PUBMED   36772997
  REMARK    GeneRIF: SERPINB7 mutation causes Nagashima-type palmoplantar
            keratosis and its spatiotemporal expression in zebrafish.
REFERENCE   3  (bases 1 to 2195)
  AUTHORS   Zheng,H., Gu,L., Zhao,F., Zhang,C., Wang,Z., Zhou,H., Hu,Z.,
            Wei,X., Liu,X., Luo,F., Zeng,F., Zhao,Q., Hao,Y., Hu,Y., Wang,X.,
            Hu,J., Yu,J., Wu,W., Zhou,Y., Zhou,P., Yue,C., Huang,N., Cui,K.,
            Li,W. and Li,J.
  TITLE     SerpinB7 deficiency contributes to development of psoriasis via
            calcium-mediated keratinocyte differentiation dysfunction
  JOURNAL   Cell Death Dis 13 (7), 635 (2022)
   PUBMED   35864103
  REMARK    GeneRIF: SerpinB7 deficiency contributes to development of
            psoriasis via calcium-mediated keratinocyte differentiation
            dysfunction.
            Publication Status: Online-Only
REFERENCE   4  (bases 1 to 2195)
  AUTHORS   Xiao,T., Liu,Y., Wang,T., Ren,J., Xia,Y. and Wang,X.
  TITLE     Two novel mutations of SERPINB7 in eight cases of Nagashima-type
            palmoplantar keratosis in the Chinese population
  JOURNAL   J Dermatol 49 (5), 539-544 (2022)
   PUBMED   35178744
  REMARK    GeneRIF: Two novel mutations of SERPINB7 in eight cases of
            Nagashima-type palmoplantar keratosis in the Chinese population.
REFERENCE   5  (bases 1 to 2195)
  AUTHORS   Inagi,R., Miyata,T., Nangaku,M., Ueyama,H., Takeyama,K., Kato,S.
            and Kurokawa,K.
  TITLE     Transcriptional regulation of a mesangium-predominant gene, megsin
  JOURNAL   J Am Soc Nephrol 13 (11), 2715-2722 (2002)
   PUBMED   12397041
  REMARK    GeneRIF: One positive regulatory motif, an incomplete activator
            protein-1 binding motif (CTGATTCAC) within the -120 to -112 region.
            This cis-acting element in the 5'-flanking region of megsin is
            involved in the activation of the megsin gene in mesangial cells.
REFERENCE   6  (bases 1 to 2195)
  AUTHORS   Miyata,T., Inagi,R., Nangaku,M., Imasawa,T., Sato,M., Izuhara,Y.,
            Suzuki,D., Yoshino,A., Onogi,H., Kimura,M., Sugiyama,S. and
            Kurokawa,K.
  TITLE     Overexpression of the serpin megsin induces progressive mesangial
            cell proliferation and expansion
  JOURNAL   J Clin Invest 109 (5), 585-593 (2002)
   PUBMED   11877466
REFERENCE   7  (bases 1 to 2195)
  AUTHORS   Inagi,R., Miyata,T., Suzuki,D., Toyoda,M., Wada,T., Ueda,Y.,
            Izuhara,Y., Sakai,H., Nangaku,M. and Kurokawa,K.
  TITLE     Specific tissue distribution of megsin, a novel serpin, in the
            glomerulus and its up-regulation in IgA nephropathy
  JOURNAL   Biochem Biophys Res Commun 286 (5), 1098-1106 (2001)
   PUBMED   11527413
REFERENCE   8  (bases 1 to 2195)
  AUTHORS   Suzuki,D., Miyata,T., Nangaku,M., Takano,H., Saotome,N., Toyoda,M.,
            Mori,Y., Zhang,S.Y., Inagi,R., Endoh,M., Kurokawa,K. and Sakai,H.
  TITLE     Expression of megsin mRNA, a novel mesangium-predominant gene, in
            the renal tissues of various glomerular diseases
  JOURNAL   J Am Soc Nephrol 10 (12), 2606-2613 (1999)
   PUBMED   10589701
REFERENCE   9  (bases 1 to 2195)
  AUTHORS   Miyata,T., Nangaku,M., Suzuki,D., Inagi,R., Uragami,K., Sakai,H.,
            Okubo,K. and Kurokawa,K.
  TITLE     A mesangium-predominant gene, megsin, is a new serpin upregulated
            in IgA nephropathy
  JOURNAL   J Clin Invest 102 (4), 828-836 (1998)
   PUBMED   9710452
REFERENCE   10 (bases 1 to 2195)
  AUTHORS   Tsujimoto,M., Tsuruoka,N., Ishida,N., Kurihara,T., Iwasa,F.,
            Yamashiro,K., Rogi,T., Kodama,S., Katsuragi,N., Adachi,M.,
            Katayama,T., Nakao,M., Yamaichi,K., Hashino,J., Haruyama,M.,
            Miura,K., Nakanishi,T., Nakazato,H., Teramura,M., Mizoguchi,H. and
            Yamaguchi,N.
  TITLE     Purification, cDNA cloning, and characterization of a new serpin
            with megakaryocyte maturation activity
  JOURNAL   J Biol Chem 272 (24), 15373-15380 (1997)
   PUBMED   9182567
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from BP332064.1, BC069417.1,
            D88575.1 and AF027866.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Nov 22, 2018 this sequence version replaced NM_003784.3.
            
            Summary: This gene encodes a member of a family of proteins which
            function as protease inhibitors. Expression of this gene is
            upregulated in IgA nephropathy and mutations have been found to
            cause palmoplantar keratoderma, Nagashima type. Alternative
            splicing results in multiple transcript variants. [provided by
            RefSeq, Jun 2014].
            
            Transcript Variant: This variant (1) represents the longest
            transcript and encodes the longer isoform (1). Variants 1, 2 and 3
            encode the same isoform.
            
            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 :: BC069417.1, AK290876.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1968189, SAMEA2145893
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000398019.7/ ENSP00000381101.2
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-5                 BP332064.1         46-50
            6-1477              BC069417.1         1-1472
            1478-2194           D88575.1           1234-1950
            2195-2195           AF027866.1         2241-2241
FEATURES             Location/Qualifiers
     source          1..2195
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="18"
                     /map="18q21.33"
     gene            1..2195
                     /gene="SERPINB7"
                     /gene_synonym="MEGSIN; PPKN; TP55"
                     /note="serpin family B member 7"
                     /db_xref="GeneID:8710"
                     /db_xref="HGNC:HGNC:13902"
                     /db_xref="MIM:603357"
     exon            1..299
                     /gene="SERPINB7"
                     /gene_synonym="MEGSIN; PPKN; TP55"
                     /inference="alignment:Splign:2.1.0"
     exon            300..485
                     /gene="SERPINB7"
                     /gene_synonym="MEGSIN; PPKN; TP55"
                     /inference="alignment:Splign:2.1.0"
     CDS             318..1460
                     /gene="SERPINB7"
                     /gene_synonym="MEGSIN; PPKN; TP55"
                     /note="isoform 1 is encoded by transcript variant 1;
                     mesangium predominant gene, megsin; serine (or cysteine)
                     proteinase inhibitor, clade B (ovalbumin), member 7;
                     serpin peptidase inhibitor, clade B (ovalbumin), member 7"
                     /codon_start=1
                     /product="serpin B7 isoform 1"
                     /protein_id="NP_003775.1"
                     /db_xref="CCDS:CCDS11988.1"
                     /db_xref="GeneID:8710"
                     /db_xref="HGNC:HGNC:13902"
                     /db_xref="MIM:603357"
                     /translation="MASLAAANAEFCFNLFREMDDNQGNGNVFFSSLSLFAALALVRL
                     GAQDDSLSQIDKLLHVNTASGYGNSSNSQSGLQSQLKRVFSDINASHKDYDLSIVNGL
                     FAEKVYGFHKDYIECAEKLYDAKVERVDFTNHLEDTRRNINKWVENETHGKIKNVIGE
                     GGISSSAVMVLVNAVYFKGKWQSAFTKSETINCHFKSPKCSGKAVAMMHQERKFNLSV
                     IEDPSMKILELRYNGGINMYVLLPENDLSEIENKLTFQNLMEWTNPRRMTSKYVEVFF
                     PQFKIEKNYEMKQYLRALGLKDIFDESKADLSGIASGGRLYISRMMHKSYIEVTEEGT
                     EATAATGSNIVEKQLPQSTLFRADHPFLFVIRKDDIILFSGKVSCP"
     exon            486..536
                     /gene="SERPINB7"
                     /gene_synonym="MEGSIN; PPKN; TP55"
                     /inference="alignment:Splign:2.1.0"
     exon            537..653
                     /gene="SERPINB7"
                     /gene_synonym="MEGSIN; PPKN; TP55"
                     /inference="alignment:Splign:2.1.0"
     exon            654..771
                     /gene="SERPINB7"
                     /gene_synonym="MEGSIN; PPKN; TP55"
                     /inference="alignment:Splign:2.1.0"
     exon            772..914
                     /gene="SERPINB7"
                     /gene_synonym="MEGSIN; PPKN; TP55"
                     /inference="alignment:Splign:2.1.0"
     exon            915..1061
                     /gene="SERPINB7"
                     /gene_synonym="MEGSIN; PPKN; TP55"
                     /inference="alignment:Splign:2.1.0"
     exon            1062..2195
                     /gene="SERPINB7"
                     /gene_synonym="MEGSIN; PPKN; TP55"
                     /inference="alignment:Splign:2.1.0"
     regulatory      2177..2182
                     /regulatory_class="polyA_signal_sequence"
                     /gene="SERPINB7"
                     /gene_synonym="MEGSIN; PPKN; TP55"
                     /note="hexamer: AATAAA"
     polyA_site      2195
                     /gene="SERPINB7"
                     /gene_synonym="MEGSIN; PPKN; TP55"
                     /note="major polyA site"
ORIGIN      
        1 atcaataagc agctgcctgt gcagagtgca ggctgcacct ttggacagcc tttaaaactg
       61 aattctcaga attttagaac aaatttttgt ctagaaatgc tgactttggt tcattaggta
      121 gtggtaaaac aggctccctt cgaagctctc cttcatcacc ttcctaagtg catgggggaa
      181 aatacctagg gctcaacagt cttgagaagt gtggaaacat tttctttgtg agtgagaaca
      241 gatcacctag agaaaggaga ccagattccc atcactgctt ctgggtatca gatgctagcg
      301 ctgcactcca ttttgcaatg gcctcccttg ctgcagcaaa tgcagagttt tgcttcaacc
      361 tgttcagaga gatggatgac aatcaaggaa atggaaatgt gttcttttcc tctctgagcc
      421 tcttcgctgc cctggccctg gtccgcttgg gcgctcaaga tgactccctc tctcagattg
      481 ataagttgct tcatgttaac actgcctcag gatatggaaa ctcttctaat agtcagtcag
      541 ggctccagtc tcaactgaaa agagtttttt ctgatataaa tgcatcccac aaggattatg
      601 atctcagcat tgtgaatggg ctttttgctg aaaaagtgta tggctttcat aaggactaca
      661 ttgagtgtgc cgaaaaatta tacgatgcca aagtggagcg agttgacttt acgaatcatt
      721 tagaagacac tagacgtaat attaataagt gggttgaaaa tgaaacacat ggcaaaatca
      781 agaacgtgat tggtgaaggt ggcataagct catctgctgt aatggtgctg gtgaatgctg
      841 tgtacttcaa aggcaagtgg caatcagcct tcaccaagag cgaaaccata aattgccatt
      901 tcaaatctcc caagtgctct gggaaggcag tcgccatgat gcatcaggaa cggaagttca
      961 atttgtctgt tattgaggac ccatcaatga agattcttga gctcagatac aatggtggca
     1021 taaacatgta cgttctgctg cctgagaatg acctctctga aattgaaaac aaactgacct
     1081 ttcagaatct aatggaatgg accaatccaa ggcgaatgac ctctaagtat gttgaggtat
     1141 tttttcctca gttcaagata gagaagaatt atgaaatgaa acaatatttg agagccctag
     1201 ggctgaaaga tatctttgat gaatccaaag cagatctctc tgggattgct tcggggggtc
     1261 gtctgtatat atcaaggatg atgcacaaat cttacataga ggtcactgag gagggcaccg
     1321 aggctactgc tgccacagga agtaatattg tagaaaagca actccctcag tccacgctgt
     1381 ttagagctga ccacccattc ctatttgtta tcaggaagga tgacatcatc ttattcagtg
     1441 gcaaagtttc ttgcccttga aaatccaatt ggtttctgtt atagcagtcc ccacaacatc
     1501 aaagaaccac cacaagtcaa tagatttgag tttaattgga aaaatgtggt gtttcctttg
     1561 agtttatttc ttcctaacat tggtcagcag atgacactgg tgacttgacc cttcctagac
     1621 acctggttga ttgtcctgat ccctgctctt agcattctac caccatgtgt ctcacccatt
     1681 tctaatttca ttgtctttct tcccacgctc atttctatca ttctccccca tgacccgtct
     1741 ggaaattatg gagagtgctc aactggtaag gagaacgtag aagtagccct agggatcctt
     1801 tttgaaactc tacagttatc gcagatattc tagcttcatt gtaagcaatc taggaaataa
     1861 gccctgctgc tttctagaaa taagtgtgaa ggataaattt tctttgttga cctatgaaga
     1921 ttttagagtt taccttcata tgtttgattt taaatcagtg tataatctag atggtaaaaa
     1981 atgtgaaatt gggattaggg accaaccaaa atatttcatt aatgctttca attgacaaat
     2041 tttggtcttt ctttgataag acaatatgta catagttttt tcaaatatta aagatctttt
     2101 aactgttggc agttgttatc tacagaatca tatctcatat gctgtgtagt ttataagttt
     2161 tttctctatt tatcagaata aagaaataca acata
//
