LOCUS       NM_012397               3130 bp    mRNA    linear   PRI 07-APR-2024
DEFINITION  Homo sapiens serpin family B member 13 (SERPINB13), transcript
            variant 2, mRNA.
ACCESSION   NM_012397
VERSION     NM_012397.4
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 3130)
  AUTHORS   Luck,K., Kim,D.K., Lambourne,L., Spirohn,K., Begg,B.E., Bian,W.,
            Brignall,R., Cafarelli,T., Campos-Laborie,F.J., Charloteaux,B.,
            Choi,D., Cote,A.G., Daley,M., Deimling,S., Desbuleux,A., Dricot,A.,
            Gebbia,M., Hardy,M.F., Kishore,N., Knapp,J.J., Kovacs,I.A.,
            Lemmens,I., Mee,M.W., Mellor,J.C., Pollis,C., Pons,C.,
            Richardson,A.D., Schlabach,S., Teeking,B., Yadav,A., Babor,M.,
            Balcha,D., Basha,O., Bowman-Colin,C., Chin,S.F., Choi,S.G.,
            Colabella,C., Coppin,G., D'Amata,C., De Ridder,D., De Rouck,S.,
            Duran-Frigola,M., Ennajdaoui,H., Goebels,F., Goehring,L., Gopal,A.,
            Haddad,G., Hatchi,E., Helmy,M., Jacob,Y., Kassa,Y., Landini,S.,
            Li,R., van Lieshout,N., MacWilliams,A., Markey,D., Paulson,J.N.,
            Rangarajan,S., Rasla,J., Rayhan,A., Rolland,T., San-Miguel,A.,
            Shen,Y., Sheykhkarimli,D., Sheynkman,G.M., Simonovsky,E., Tasan,M.,
            Tejeda,A., Tropepe,V., Twizere,J.C., Wang,Y., Weatheritt,R.J.,
            Weile,J., Xia,Y., Yang,X., Yeger-Lotem,E., Zhong,Q., Aloy,P.,
            Bader,G.D., De Las Rivas,J., Gaudet,S., Hao,T., Rak,J.,
            Tavernier,J., Hill,D.E., Vidal,M., Roth,F.P. and Calderwood,M.A.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   2  (bases 1 to 3130)
  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   3  (bases 1 to 3130)
  AUTHORS   Czyzyk,J., Henegariu,O., Preston-Hurlburt,P., Baldzizhar,R.,
            Fedorchuk,C., Esplugues,E., Bottomly,K., Gorus,F.K., Herold,K. and
            Flavell,R.A.
  TITLE     Enhanced anti-serpin antibody activity inhibits autoimmune
            inflammation in type 1 diabetes
  JOURNAL   J Immunol 188 (12), 6319-6327 (2012)
   PUBMED   22593614
  REMARK    GeneRIF: clade B serpins help to maintain homeostasis by inducing
            protective humoral immunity
REFERENCE   4  (bases 1 to 3130)
  AUTHORS   Boyapati,A., Ren,B. and Zhang,D.E.
  TITLE     SERPINB13 is a novel RUNX1 target gene
  JOURNAL   Biochem Biophys Res Commun 411 (1), 115-120 (2011)
   PUBMED   21723253
  REMARK    GeneRIF: These data demonstrate that RUNX1 is an important
            regulator of SERPINB13 and cathepsin K activity.
REFERENCE   5  (bases 1 to 3130)
  AUTHORS   McDonough,C.W., Bostrom,M.A., Lu,L., Hicks,P.J., Langefeld,C.D.,
            Divers,J., Mychaleckyj,J.C., Freedman,B.I. and Bowden,D.W.
  TITLE     Genetic analysis of diabetic nephropathy on chromosome 18 in
            African Americans: linkage analysis and dense SNP mapping
  JOURNAL   Hum Genet 126 (6), 805-817 (2009)
   PUBMED   19690890
  REMARK    GeneRIF: Observational study of gene-disease association. (HuGE
            Navigator)
REFERENCE   6  (bases 1 to 3130)
  AUTHORS   Abts,H.F., Welss,T., Scheuring,S., Scott,F.L., Irving,J.A.,
            Michel,G., Bird,P.I. and Ruzicka,T.
  TITLE     Sequence, organization, chromosomal localization, and alternative
            splicing of the human serine protease inhibitor gene hurpin (PI13)
            which is upregulated in psoriasis
  JOURNAL   DNA Cell Biol 20 (3), 123-131 (2001)
   PUBMED   11313015
REFERENCE   7  (bases 1 to 3130)
  AUTHORS   Nakashima,T., Pak,S.C., Silverman,G.A., Spring,P.M., Frederick,M.J.
            and Clayman,G.L.
  TITLE     Genomic cloning, mapping, structure and promoter analysis of
            HEADPIN, a serpin which is down-regulated in head and neck cancer
            cells
  JOURNAL   Biochim Biophys Acta 1492 (2-3), 441-446 (2000)
   PUBMED   11004515
REFERENCE   8  (bases 1 to 3130)
  AUTHORS   Abts,H.F., Welss,T., Mirmohammadsadegh,A., Kohrer,K., Michel,G. and
            Ruzicka,T.
  TITLE     Cloning and characterization of hurpin (protease inhibitor 13): A
            new skin-specific, UV-repressible serine proteinase inhibitor of
            the ovalbumin serpin family
  JOURNAL   J Mol Biol 293 (1), 29-39 (1999)
   PUBMED   10512713
REFERENCE   9  (bases 1 to 3130)
  AUTHORS   Spring,P., Nakashima,T., Frederick,M., Henderson,Y. and Clayman,G.
  TITLE     Identification and cDNA cloning of headpin, a novel differentially
            expressed serpin that maps to chromosome 18q
  JOURNAL   Biochem Biophys Res Commun 264 (1), 299-304 (1999)
   PUBMED   10527881
REFERENCE   10 (bases 1 to 3130)
  AUTHORS   Abts,H.F., Breuhahn,K., Michel,G., Kohrer,K., Esser,P. and
            Ruzicka,T.
  TITLE     Analysis of UVB-modulated gene expression in human keratinocytes by
            mRNA differential display polymerase chain reaction
  JOURNAL   Photochem Photobiol 66 (3), 363-367 (1997)
   PUBMED   9297979
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from DC346089.1, BC101821.1,
            AJ001696.2 and AL050177.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Jun 2, 2019 this sequence version replaced NM_012397.3.
            
            Summary: The protein encoded by this gene is a member of the serpin
            family of serine protease inhibitors. The encoded protein inhibits
            the activity of cathepsin K and is itself transcriptionally
            repressed by RUNX1. This gene is downregulated in many types of
            cancer. [provided by RefSeq, Jan 2017].
            
            Transcript Variant: This variant (2) uses an alternate in-frame
            splice site in the 5' coding region compared to variant 1. The
            encoded isoform (2) is shorter than isoform 1.
            
            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 :: AJ001696.2, AJ001697.2 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA2144335, SAMEA2145893
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000344731.10/ ENSP00000341584.6
            RefSeq Select criteria :: based on manual assertion, conservation,
                                      expression
            ##RefSeq-Attributes-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-68                DC346089.1         44-111
            69-1336             BC101821.1         1-1268
            1337-1425           AJ001696.2         1314-1402
            1426-3130           AL050177.1         1-1705
FEATURES             Location/Qualifiers
     source          1..3130
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="18"
                     /map="18q21.33"
     gene            1..3130
                     /gene="SERPINB13"
                     /gene_synonym="headpin; HSHUR7SEQ; HUR7; PI13"
                     /note="serpin family B member 13"
                     /db_xref="GeneID:5275"
                     /db_xref="HGNC:HGNC:8944"
                     /db_xref="MIM:604445"
     exon            1..108
                     /gene="SERPINB13"
                     /gene_synonym="headpin; HSHUR7SEQ; HUR7; PI13"
                     /inference="alignment:Splign:2.1.0"
     exon            109..290
                     /gene="SERPINB13"
                     /gene_synonym="headpin; HSHUR7SEQ; HUR7; PI13"
                     /inference="alignment:Splign:2.1.0"
     CDS             126..1301
                     /gene="SERPINB13"
                     /gene_synonym="headpin; HSHUR7SEQ; HUR7; PI13"
                     /note="isoform 2 is encoded by transcript variant 2;
                     protease inhibitor 13 (hurpin, headpin); serine (or
                     cysteine) proteinase inhibitor, clade B (ovalbumin),
                     member 13; UV-B repressed sequence, HUR 7; serpin B13;
                     PI-13; peptidase inhibitor 13; proteinase inhibitor 13;
                     haCaT UV-repressible serpin; HURPIN; serpin peptidase
                     inhibitor, clade B (ovalbumin), member 13"
                     /codon_start=1
                     /product="serpin B13 isoform 2"
                     /protein_id="NP_036529.1"
                     /db_xref="CCDS:CCDS11985.1"
                     /db_xref="GeneID:5275"
                     /db_xref="HGNC:HGNC:8944"
                     /db_xref="MIM:604445"
                     /translation="MDSLGAVSTRLGFDLFKELKKTNDGNIFFSPVGILTAIGMVLLG
                     TRGATASQLEEVFHSEKETKSSRIKAEEKEVIENTEAVHQQFQKFLTEISKLTNDYEL
                     NITNRLFGEKTYLFLQKYLDYVEKYYHASLEPVDFVNAADESRKKINSWVESKTNEKI
                     KDLFPDGSISSSTKLVLVNMVYFKGQWDREFKKENTKEEKFWMNKSTSKSVQMMTQSH
                     SFSFTFLEDLQAKILGIPYKNNDLSMFVLLPNDIDGLEKIIDKISPEKLVEWTSPGHM
                     EERKVNLHLPRFEVEDGYDLEAVLAAMGMGDAFSEHKADYSGMSSGSGLYAQKFLHSS
                     FVAVTEEGTEAAAATGIGFTVTSAPGHENVHCNHPFLFFIRHNESNSILFFGRFSSP"
     exon            291..350
                     /gene="SERPINB13"
                     /gene_synonym="headpin; HSHUR7SEQ; HUR7; PI13"
                     /inference="alignment:Splign:2.1.0"
     exon            351..479
                     /gene="SERPINB13"
                     /gene_synonym="headpin; HSHUR7SEQ; HUR7; PI13"
                     /inference="alignment:Splign:2.1.0"
     exon            480..597
                     /gene="SERPINB13"
                     /gene_synonym="headpin; HSHUR7SEQ; HUR7; PI13"
                     /inference="alignment:Splign:2.1.0"
     exon            598..740
                     /gene="SERPINB13"
                     /gene_synonym="headpin; HSHUR7SEQ; HUR7; PI13"
                     /inference="alignment:Splign:2.1.0"
     exon            741..896
                     /gene="SERPINB13"
                     /gene_synonym="headpin; HSHUR7SEQ; HUR7; PI13"
                     /inference="alignment:Splign:2.1.0"
     exon            897..3130
                     /gene="SERPINB13"
                     /gene_synonym="headpin; HSHUR7SEQ; HUR7; PI13"
                     /inference="alignment:Splign:2.1.0"
     regulatory      2662..2667
                     /regulatory_class="polyA_signal_sequence"
                     /gene="SERPINB13"
                     /gene_synonym="headpin; HSHUR7SEQ; HUR7; PI13"
                     /note="hexamer: AATAAA"
     polyA_site      2681
                     /gene="SERPINB13"
                     /gene_synonym="headpin; HSHUR7SEQ; HUR7; PI13"
                     /note="major polyA site"
     regulatory      3109..3114
                     /regulatory_class="polyA_signal_sequence"
                     /gene="SERPINB13"
                     /gene_synonym="headpin; HSHUR7SEQ; HUR7; PI13"
                     /note="hexamer: AATATA"
     polyA_site      3130
                     /gene="SERPINB13"
                     /gene_synonym="headpin; HSHUR7SEQ; HUR7; PI13"
ORIGIN      
        1 actgctgaag cagatgtgga gaactataaa ttaaggatcc cagctactta attgacttat
       61 gcttcctagt tcgttgccca gccaccaccg tctctccaaa aacccgaggt ctcgctaaaa
      121 tcatcatgga ttcacttggc gccgtcagca ctcgacttgg gtttgatctt ttcaaagagc
      181 tgaagaaaac aaatgatggc aacatcttct tttcccctgt gggcatcttg actgcaattg
      241 gcatggtcct cctggggacc cgaggagcca ccgcttccca gttggaggag gtgtttcact
      301 ctgaaaaaga gacgaagagc tcaagaataa aggctgaaga aaaagaggtg attgagaaca
      361 cagaagcagt acatcaacaa ttccaaaagt ttttgactga aataagcaaa ctcactaatg
      421 attatgaact gaacataacc aacaggctgt ttggagaaaa aacatacctc ttccttcaaa
      481 aatacttaga ttatgttgaa aaatattatc atgcatctct ggaacctgtt gattttgtaa
      541 atgcagccga tgaaagtcga aagaagatta attcctgggt tgaaagcaaa acaaatgaaa
      601 aaatcaagga cttgttccca gatggctcta ttagtagctc taccaagctg gtgctggtga
      661 acatggttta ttttaaaggg caatgggaca gggagtttaa gaaagaaaat actaaggaag
      721 agaaattttg gatgaataag agcacaagta aatctgtaca gatgatgaca cagagccatt
      781 cctttagctt cactttcctg gaggacttgc aggccaaaat tctagggatt ccatataaaa
      841 acaacgacct aagcatgttt gtgcttctgc ccaacgacat cgatggcctg gagaagataa
      901 tagataaaat aagtcctgag aaattggtag agtggactag tccagggcat atggaagaaa
      961 gaaaggtgaa tctgcacttg ccccggtttg aggtggagga cggttacgat ctagaggcgg
     1021 tcctggctgc catggggatg ggcgatgcct tcagtgagca caaagccgac tactcgggaa
     1081 tgtcgtcagg ctccgggttg tacgcccaga agttcctgca cagttccttt gtggcagtaa
     1141 ctgaggaagg caccgaggct gcagctgcca ccggcatagg ctttactgtc acatccgccc
     1201 caggtcatga aaatgttcac tgcaatcatc ccttcctgtt cttcatcagg cacaatgaat
     1261 ccaacagcat cctcttcttc ggcagatttt cttctcctta agatgatcgt tgccatggca
     1321 ttgctgcttt tagcaaaaaa caactaccag tgttactcat atgattatga aaatcgtcca
     1381 ttcttttaaa tgttgtctca cttgcatttc cagtcttggc catcaaatca atgatttaat
     1441 gactccaata atgtgtgtgt ttataaccat cctcgaaagt gaaatgtcct tttctttgtg
     1501 ccatgcgtaa ggtgagtcaa accaaacctc attgataatc tccctttggt ttcctttgaa
     1561 agtaaattgg tatcttgtag ttttgtgcac acgaaaggag agaaagtctc tccagtaaag
     1621 agtacgaact agtaattttg gggggtctct ctaattctgg tattttgaca tgttataata
     1681 cgcaagtaaa ataaaacaat agtttactca gctcatgtta ctattcccca acagatattg
     1741 tggcaaatca cacataggaa agagaatttg ggaatacagt agcaaaacat aaattaaaac
     1801 tcaaatgcca ggacaaaata aaacaatata ccagatggag aggatgcccg tattttcatc
     1861 ttccattcta acattatcca ttgttagatg cataagcatt ttgatattgt gtaataaatg
     1921 tggtatttga gaagataaat gatgtagttg atcagtattc ctcctctatc acctttttag
     1981 actttgtaag gtaaatattt ggactaactt ttagaaaagt ttcccttttt ttctccattt
     2041 acatttttct ggtttttttt tttttttgag tgaggtacga gtattaccaa atgatatttt
     2101 ctgaagatgc tttttggaaa gctctgaatc tatacctaat gctcttaatt attggcttgt
     2161 ttcatttttt tcctccagtt tttaacaaga tcacataact ggcttatttt taacagcttt
     2221 gtcaaactac aatttacatg ccgtaaaatg tacacactgt aattttataa ttcattgact
     2281 tttagtaaat ttctagcgtt atgcatcgcc acaatccagt tttagaatat ttccatgacc
     2341 ctaagaagtt tcctcatgtc tattaatatt cccaatccta ggcaccactg agttgttttc
     2401 tgtctttata agtttttctt tctacatctt atataaatgg aatcataata catgtagtat
     2461 tttgtgtctg gcgtcttgca cttagcatgg tgttcttgag gttcatctgt tgtagtatgt
     2521 attgatactt aattttttta ttgccgaata ctattccatt gcatggaaaa gacctatttt
     2581 atttctaggt tcaccagttg agggacattt ggattgttcc cacttcttgg ctgttaggaa
     2641 taatgttgct ctgaacatgt aaataaagat ctttgtgttc acatatgttt tcatttctgt
     2701 tggggagatt cctaggctag aaattgctgg gccatatgaa aaatcaatag ttagctttgt
     2761 aagaaacagt caaactgttt tccaacgtga cattttatat tcccaccagg aatgtttaaa
     2821 actagtgtct tcaaatcctc accaacatcc aggattgtgt ctttatgatt atagccattt
     2881 ttgtaggtac aaagtggcat ctcatggtgg ttttaatttg catttccata atatctaatt
     2941 aggttgagct ttttttatgt gcttattggc catttgtttg actttgtttg gtgaaatgta
     3001 tacaaatcat ttgctcattt ttaatttggg ttgtctgtct tgtcttctca ttttattgag
     3061 ttaaatgagt tcttaataat ctctggctta caagtcctta atttatcaaa tatatgatac
     3121 gtggacattt
//
