LOCUS       NM_001319303            2055 bp    mRNA    linear   PRI 09-JUN-2024
DEFINITION  Homo sapiens Kazal type serine peptidase inhibitor domain 1
            (KAZALD1), transcript variant 2, mRNA.
ACCESSION   NM_001319303 XR_945820
VERSION     NM_001319303.2
KEYWORDS    RefSeq.
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 2055)
  AUTHORS   Haenig,C., Atias,N., Taylor,A.K., Mazza,A., Schaefer,M.H., Russ,J.,
            Riechers,S.P., Jain,S., Coughlin,M., Fontaine,J.F., Freibaum,B.D.,
            Brusendorf,L., Zenkner,M., Porras,P., Stroedicke,M., Schnoegl,S.,
            Arnsburg,K., Boeddrich,A., Pigazzini,L., Heutink,P., Taylor,J.P.,
            Kirstein,J., Andrade-Navarro,M.A., Sharan,R. and Wanker,E.E.
  TITLE     Interactome Mapping Provides a Network of Neurodegenerative Disease
            Proteins and Uncovers Widespread Protein Aggregation in Affected
            Brains
  JOURNAL   Cell Rep 32 (7), 108050 (2020)
   PUBMED   32814053
REFERENCE   2  (bases 1 to 2055)
  AUTHORS   Alvi,M.A., McArt,D.G., Kelly,P., Fuchs,M.A., Alderdice,M.,
            McCabe,C.M., Bingham,V., McGready,C., Tripathi,S.,
            Emmert-Streib,F., Loughrey,M.B., McQuaid,S., Maxwell,P.,
            Hamilton,P.W., Turkington,R., James,J.A., Wilson,R.H. and
            Salto-Tellez,M.
  TITLE     Comprehensive molecular pathology analysis of small bowel
            adenocarcinoma reveals novel targets with potential for clinical
            utility
  JOURNAL   Oncotarget 6 (25), 20863-20874 (2015)
   PUBMED   26315110
  REMARK    GeneRIF: KAZALD1 hypomethylation indicates bad prognosis in small
            bowel adenocarcinoma
REFERENCE   3  (bases 1 to 2055)
  AUTHORS   Peltekova,I.T., Hurteau-Millar,J. and Armour,C.M.
  TITLE     Novel interstitial deletion of 10q24.3-25.1 associated with
            multiple congenital anomalies including lobar holoprosencephaly,
            cleft lip and palate, and hypoplastic kidneys
  JOURNAL   Am J Med Genet A 164A (12), 3132-3136 (2014)
   PUBMED   25257335
REFERENCE   4  (bases 1 to 2055)
  AUTHORS   Wang,H., Feng,Y., Bao,Z., Jiang,C., Yan,W., Wang,Y., Zhang,C.,
            Liu,Y., Zhang,Q., Zhang,W. and Jiang,C.
  TITLE     Epigenetic silencing of KAZALD1 confers a better prognosis and is
            associated with malignant transformation/progression in glioma
  JOURNAL   Oncol Rep 30 (5), 2089-2096 (2013)
   PUBMED   24002581
  REMARK    GeneRIF: KAZALD1 promotes glioma malignant progression through
            invasion and proliferation
REFERENCE   5  (bases 1 to 2055)
  AUTHORS   Hama,R., Watanabe,Y., Shinada,K., Yamada,Y., Ogata,Y., Yoshida,Y.,
            Tamura,T., Hiraishi,T., Oikawa,R., Sakurai,J., Maehata,T.,
            Koizumi,H. and Itoh,F.
  TITLE     Characterization of DNA hypermethylation in two cases of peritoneal
            mesothelioma
  JOURNAL   Tumour Biol 33 (6), 2031-2040 (2012)
   PUBMED   22836805
  REMARK    GeneRIF: KAZALD1 gene was hypermethylated in sarcomatoid-type
            malignant peritoneal mesothelioma.
REFERENCE   6  (bases 1 to 2055)
  AUTHORS   Goto,Y., Shinjo,K., Kondo,Y., Shen,L., Toyota,M., Suzuki,H.,
            Gao,W., An,B., Fujii,M., Murakami,H., Osada,H., Taniguchi,T.,
            Usami,N., Kondo,M., Hasegawa,Y., Shimokata,K., Matsuo,K., Hida,T.,
            Fujimoto,N., Kishimoto,T., Issa,J.P. and Sekido,Y.
  TITLE     Epigenetic profiles distinguish malignant pleural mesothelioma from
            lung adenocarcinoma
  JOURNAL   Cancer Res 69 (23), 9073-9082 (2009)
   PUBMED   19887624
REFERENCE   7  (bases 1 to 2055)
  AUTHORS   Shibata,Y., Tsukazaki,T., Hirata,K., Xin,C. and Yamaguchi,A.
  TITLE     Role of a new member of IGFBP superfamily, IGFBP-rP10, in
            proliferation and differentiation of osteoblastic cells
  JOURNAL   Biochem Biophys Res Commun 325 (4), 1194-1200 (2004)
   PUBMED   15555553
  REMARK    GeneRIF: This paper suggests that the mouse ortholog of this human
            gene plays a role in bone formation and regeneration.
REFERENCE   8  (bases 1 to 2055)
  AUTHORS   James,M.J., Jarvinen,E. and Thesleff,I.
  TITLE     Bono1: a gene associated with regions of deposition of bone and
            dentine
  JOURNAL   Gene Expr Patterns 4 (5), 595-599 (2004)
   PUBMED   15261838
  REMARK    GeneRIF: Expression of Bono1 was detected in osteoblasts and
            secretory odontoblasts by in situ hybridization.
            GeneRIF: This paper describes the identification and expression
            pattern of the mouse ortholog of the human gene.
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AL133215.17.
            
            On Aug 2, 2019 this sequence version replaced NM_001319303.1.
            
            Summary: This gene encodes a secreted member of the insulin growth
            factor-binding protein (IGFBP) superfamily. The protein contains an
            insulin growth factor-binding domain in its N-terminal region, a
            Kazal-type serine protease inhibitor and follistatin-like domain in
            its central region, and an immunoglobulin-like domain in its
            C-terminal region. Studies of the mouse ortholog suggest that this
            protein may function in bone development and bone regeneration.
            This gene is hypomethylated and over-expressed in high-grade glioma
            compared to low-grade glioma, and thus the hypomethylated gene may
            be associated with cell proliferation and the shorter survival of
            patients with high-grade glioma. It is also one of numerous genes
            found to be deleted in a novel 5.54 Mb interstitial deletion, which
            is associated with multiple congenital anomalies. Alternative
            splicing results in multiple transcript variants. [provided by
            RefSeq, Feb 2016].
            
            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 :: SRR14038195.2251044.1,
                                           SRR14038194.299463.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1968832, SAMEA2151887
                                           [ECO:0000348]
            ##Evidence-Data-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-127               AL133215.17        144813-144939
            128-689             AL133215.17        145366-145927
            690-905             AL133215.17        147030-147245
            906-1053            AL133215.17        147325-147472
            1054-1171           AL133215.17        147650-147767
            1172-2055           AL133215.17        150072-150955
FEATURES             Location/Qualifiers
     source          1..2055
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="10"
                     /map="10q24.31"
     gene            1..2055
                     /gene="KAZALD1"
                     /gene_synonym="BONO1; FKSG28; FKSG40; IGFBP-rP10"
                     /note="Kazal type serine peptidase inhibitor domain 1"
                     /db_xref="GeneID:81621"
                     /db_xref="HGNC:HGNC:25460"
                     /db_xref="MIM:609208"
     exon            1..127
                     /gene="KAZALD1"
                     /gene_synonym="BONO1; FKSG28; FKSG40; IGFBP-rP10"
                     /inference="alignment:Splign:2.1.0"
     exon            128..689
                     /gene="KAZALD1"
                     /gene_synonym="BONO1; FKSG28; FKSG40; IGFBP-rP10"
                     /inference="alignment:Splign:2.1.0"
     CDS             648..1148
                     /gene="KAZALD1"
                     /gene_synonym="BONO1; FKSG28; FKSG40; IGFBP-rP10"
                     /note="isoform b is encoded by transcript variant 2;
                     kazal-type serine protease inhibitor domain-containing
                     protein 1; IGFBP-related protein 10; bone- and
                     odontoblast-expressed gene 1; novel kazal-type serine
                     protease inhibitor domain and immunoglobulin domain
                     containing protein"
                     /codon_start=1
                     /product="kazal-type serine protease inhibitor
                     domain-containing protein 1 isoform b"
                     /protein_id="NP_001306232.1"
                     /db_xref="GeneID:81621"
                     /db_xref="HGNC:HGNC:25460"
                     /db_xref="MIM:609208"
                     /translation="MPTSLWHTRGPANRTGCLCWAMLFSDLPPSPPGPQIVSHPYDTW
                     NVTGQDVIFGCEVFAYPMASIEWRKDGLDIQLPGDDPHISVQFRGGPQRFEVTGWLQI
                     QAVRPSDEGTYRCLGRNALGQVEAPASLTVLTPDQLNSTGIPQLRSLNLVPEEEAESE
                     ENDDYY"
     exon            690..905
                     /gene="KAZALD1"
                     /gene_synonym="BONO1; FKSG28; FKSG40; IGFBP-rP10"
                     /inference="alignment:Splign:2.1.0"
     exon            906..1053
                     /gene="KAZALD1"
                     /gene_synonym="BONO1; FKSG28; FKSG40; IGFBP-rP10"
                     /inference="alignment:Splign:2.1.0"
     exon            1054..1171
                     /gene="KAZALD1"
                     /gene_synonym="BONO1; FKSG28; FKSG40; IGFBP-rP10"
                     /inference="alignment:Splign:2.1.0"
     exon            1172..2055
                     /gene="KAZALD1"
                     /gene_synonym="BONO1; FKSG28; FKSG40; IGFBP-rP10"
                     /inference="alignment:Splign:2.1.0"
     regulatory      2035..2040
                     /regulatory_class="polyA_signal_sequence"
                     /gene="KAZALD1"
                     /gene_synonym="BONO1; FKSG28; FKSG40; IGFBP-rP10"
                     /note="hexamer: AATAAA"
     polyA_site      2055
                     /gene="KAZALD1"
                     /gene_synonym="BONO1; FKSG28; FKSG40; IGFBP-rP10"
                     /note="major polyA site"
ORIGIN      
        1 agaagtcctc aggacggagc agaggtggcc ggcgggcccg gctgactgcg cctctgcttt
       61 ctttccataa ccttttcttt cggactcgaa tcacggctgc tgcgaagggt ctagttccgg
      121 acactagggt gcccgaacgc gctgatgccc cgagtgctcg cagggcttcc cgctaaccat
      181 gctgccgccg ccgcggcccg cagctgcctt ggcgctgcct gtgctcctgc tactgctggt
      241 ggtgctgacg ccgcccccga ccggcgcaag gccatcccca ggcccagatt acctgcggcg
      301 cggctggatg cggctgctag cggagggcga gggctgcgct ccctgccggc cagaagagtg
      361 cgccgcgccg cggggctgcc tggcgggcag ggtgcgcgac gcgtgcggct gctgctggga
      421 atgcgccaac ctcgagggcc agctctgcga cctggacccc agtgctcact tctacgggca
      481 ctgcggcgag cagcttgagt gccggctgga cacaggcggc gacctgagcc gcggagaggt
      541 gccggaacct ctgtgtgcct gtcgttcgca gagtccgctc tgcgggtccg acggtcacac
      601 ctactcccag atctgccgcc tgcaggaggc ggcccgcgct cggcccgatg ccaacctcac
      661 tgtggcacac ccggggccct gcgaatcgga ctggatgcct ttgctgggcc atgctattct
      721 cagacctccc gccttcaccc ccagggcccc agatcgtgtc acatccatat gacacttgga
      781 atgtgacagg gcaggatgtg atctttggct gtgaagtgtt tgcctacccc atggcctcca
      841 tcgagtggag gaaggatggc ttggacatcc agctgccagg ggatgacccc cacatctctg
      901 tgcagtttag gggtggaccc cagaggtttg aggtgactgg ctggctgcag atccaggctg
      961 tgcgtcccag tgatgagggc acttaccgct gccttggccg caatgccctg ggtcaagtgg
     1021 aggcccctgc tagcttgaca gtgctcacac ctgaccagct gaactctaca ggcatccccc
     1081 agctgcgatc actaaacctg gttcctgagg aggaggctga gagtgaagag aatgacgatt
     1141 actactaggt ccagagctct ggcccatggg ggttgctcac acccgagatg tgaggttcca
     1201 ggagcgccga cccagagttg ccaggcctga aggcgggaga ggctcagtcg caccctacat
     1261 ttcccacctc caagatttta agtatagttc gcttgaaatc cctggaatgc gctttcttct
     1321 ggctcctacc cggagatccg gagtccggac aaaccggggc aggaagggtc cgtcggacca
     1381 gctcctccca agccgaggct tccaggtctc ggccgggctc ttctccctgc ttttagctga
     1441 gccgggctgg gcgtacctct ctcctccatc tagagcaggg tgtgaagagg aagccagagg
     1501 gggctgtctg aaaatgaccc tgaccccctc ctcgggctgt cgtgaggagg agggccgctt
     1561 cgcccggctg ctcgtcaccg cgaaggctcc aaagaagtgt tgcgcagccg tgctggtata
     1621 actgagggtg tcctggcgaa gcccagcccc tggcgccctg gtgaccgggg gggtcgatgt
     1681 gcggactggg cagaactgga gcccgaagct ggagagcgcc cctcaaaaag aagcctggaa
     1741 gcccgagaga tgaacccgac tcagagaggg ccaagactgc agaccttggg gaccgaggac
     1801 accctcacca cgctggtggg ggctgggggg atggcgcggg cggtggcgtg cggggaagcg
     1861 cctggggaac acctggctct gcaagttttg tgccttagcg gaaagaggcg acatctctgg
     1921 caagttggga gtacaggaag tagcgaagga gtgccatctg gtggatcctt ctggtagtga
     1981 cactcagacc tgggccaggg gccttgagac aatttacttg actggaaaaa tctgaataaa
     2041 aaaaagatgc ttcaa
//
