LOCUS       NM_030929               3232 bp    mRNA    linear   PRI 04-AUG-2024
DEFINITION  Homo sapiens Kazal type serine peptidase inhibitor domain 1
            (KAZALD1), transcript variant 1, mRNA.
ACCESSION   NM_030929 XR_110446 XR_111127 XR_114421
VERSION     NM_030929.5
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 3232)
  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 3232)
  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 3232)
  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 3232)
  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 3232)
  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 3232)
  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 3232)
  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 3232)
  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_030929.4.
            
            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 :: AY359087.1, BC007758.2 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1968540, SAMEA1968832
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000370200.6/ ENSP00000359219.6
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-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
            690-850             AL133215.17        147085-147245
            851-998             AL133215.17        147325-147472
            999-3232            AL133215.17        147650-149883
FEATURES             Location/Qualifiers
     source          1..3232
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="10"
                     /map="10q24.31"
     gene            1..3232
                     /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             179..1093
                     /gene="KAZALD1"
                     /gene_synonym="BONO1; FKSG28; FKSG40; IGFBP-rP10"
                     /note="isoform a precursor is encoded by transcript
                     variant 1; 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 a precursor"
                     /protein_id="NP_112191.2"
                     /db_xref="CCDS:CCDS7509.1"
                     /db_xref="GeneID:81621"
                     /db_xref="HGNC:HGNC:25460"
                     /db_xref="MIM:609208"
                     /translation="MLPPPRPAAALALPVLLLLLVVLTPPPTGARPSPGPDYLRRGWM
                     RLLAEGEGCAPCRPEECAAPRGCLAGRVRDACGCCWECANLEGQLCDLDPSAHFYGHC
                     GEQLECRLDTGGDLSRGEVPEPLCACRSQSPLCGSDGHTYSQICRLQEAARARPDANL
                     TVAHPGPCESGPQIVSHPYDTWNVTGQDVIFGCEVFAYPMASIEWRKDGLDIQLPGDD
                     PHISVQFRGGPQRFEVTGWLQIQAVRPSDEGTYRCLGRNALGQVEAPASLTVLTPDQL
                     NSTGIPQLRSLNLVPEEEAESEENDDYY"
     exon            690..850
                     /gene="KAZALD1"
                     /gene_synonym="BONO1; FKSG28; FKSG40; IGFBP-rP10"
                     /inference="alignment:Splign:2.1.0"
     exon            851..998
                     /gene="KAZALD1"
                     /gene_synonym="BONO1; FKSG28; FKSG40; IGFBP-rP10"
                     /inference="alignment:Splign:2.1.0"
     exon            999..3232
                     /gene="KAZALD1"
                     /gene_synonym="BONO1; FKSG28; FKSG40; IGFBP-rP10"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1740..1745
                     /regulatory_class="polyA_signal_sequence"
                     /gene="KAZALD1"
                     /gene_synonym="BONO1; FKSG28; FKSG40; IGFBP-rP10"
                     /note="hexamer: AATAAA"
     polyA_site      1763
                     /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 gcgaatcggg gccccagatc gtgtcacatc catatgacac
      721 ttggaatgtg acagggcagg atgtgatctt tggctgtgaa gtgtttgcct accccatggc
      781 ctccatcgag tggaggaagg atggcttgga catccagctg ccaggggatg acccccacat
      841 ctctgtgcag tttaggggtg gaccccagag gtttgaggtg actggctggc tgcagatcca
      901 ggctgtgcgt cccagtgatg agggcactta ccgctgcctt ggccgcaatg ccctgggtca
      961 agtggaggcc cctgctagct tgacagtgct cacacctgac cagctgaact ctacaggcat
     1021 cccccagctg cgatcactaa acctggttcc tgaggaggag gctgagagtg aagagaatga
     1081 cgattactac taggtccaga gctctggccc atgggggtgg gtgagcggct atagtgttca
     1141 tccctgctct tgaaaagacc tggaaagggg agcagggtcc cttcatcgac tgctttcatg
     1201 ctgtcagtag ggatgatcat gggaggccta tttgactcca aggtagcagt gtggtaggat
     1261 agagacaaaa gctggaggag ggtagggaga gaagctgaga ccaggaccgg tggggtacaa
     1321 aggggcccat gcaggagatg ccctggccag taggacctcc aacaggttgt ttcccaggct
     1381 ggggtggggg cctgagcaga cacagaggtg caggcaccag gattctccac ttcttccagc
     1441 cctgctgggc cacagttcta actgcccttc ctcccaggcc ctggttcttg ctatttcctg
     1501 gtccccaacg tttatctagc ttgtttgccc tttccccaaa ctcatcttcc agaacttttc
     1561 cctctctcct aagccccagt tgcacctact aactgcagtc ccttttgctg tctgccgtct
     1621 tttgtacaag agagagaaca gcggagcatg acttagttca gtgcagagag ataggtgagg
     1681 ccagctcgag atcttatacc actctgtatt ggacaaaggc tagcacaggg ctaggcacca
     1741 ataaagattt ctaatgatgc acagacagtt tatgcagatg tgcacatgaa aactgaatat
     1801 ccctgggagg cctcccacac taacagaact ctggcttcca gaagctgcag ggcctgctct
     1861 ctaagcacat gcctgccaga tgtacaaaga gaaagtttga acttgggcct atcccgcctt
     1921 tgagggaggg aggctggagc catatggctg gagggaagtt atcttccccg tctgccctcc
     1981 attggggctg atatacatta tctgcttctt tgctcatctt attccaaacc cttccccagg
     2041 ccagaatggg gaacagggct atgtgggttg gcccccaaaa tgaaagcata aactggatag
     2101 aggagggtgg aagtttggtc acctgtgtgg tccataccct tccccagctc ccataggaat
     2161 ctacccattt cctgcagaag ccagagtcat ggtaaggctg tttcctatct gccccaattg
     2221 tgacctgtcc tctctggctt ggggtcccca aatctctttc ctcattctcc ttacctatcc
     2281 cagggacact ggtgagactc aatgtttatt taatgattgg aggaaagaat gaaagcataa
     2341 gtcagcgagg ccgaggcgct gtgtgtagat ggcgacagcc tcctacacgc cagggctcca
     2401 cccggatcct ggcgccactg cgggagggcc tgcccttggc tcagcgtcag agtttgtcct
     2461 ctggggccca acgcagggag cctggccaca tgggaggggt gtggtccgga actccaaccc
     2521 caggtcctgc ttggccgccc ctcccgcggc tacgcactac tccatctact gctggcttgc
     2581 cccgggtcct taagccagcg acagttttta ttgccgaacc caggctggaa gcgggcggcc
     2641 ctaggagccg cgcacaacag cgcaagcggg ctggataccg ggagccgatt ccagggcgcc
     2701 cacagaagca gaatcagagg ggtaggcggg ggtggggcgt gctgttcggc gctgtggcca
     2761 aaatccgccc ggcgctgaaa gaggggacgt gggtgtgagt cccagcatca gccagggaat
     2821 ccgcccctag cttgttcttc gcccagctgg gctccaagac gccctctgcg ggcccatagc
     2881 tcctaccgcg tccacctgca gagcagaggc tcctcaccaa aagccccacc ccaccggaga
     2941 gggtcacgca ggtcccgggg aatccgcact ccttaatcgc gttagccgac tttgtaggtg
     3001 ttcaggagca gcctcctagc agcctcagtt ttcccctccc cgccctgctg gttcaagcac
     3061 cacagcctgg aatgggagaa ctgttgtcca ccgccccctc cctccccgca ccccgcctct
     3121 gctgcagcgg acccgcttta ataatgtcgc tggaaagtga cacgcgattt attattaaag
     3181 taatgcgggc gcagggacgg gaaaggttta ataaacgtgc tgagatgccg ag
//
