LOCUS       NM_001271718             722 bp    mRNA    linear   PRI 06-JUN-2024
DEFINITION  Homo sapiens serine peptidase inhibitor Kazal type 2 (SPINK2),
            transcript variant 1, mRNA.
ACCESSION   NM_001271718
VERSION     NM_001271718.2
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 722)
  AUTHORS   Pitts,H.A., Cheng,C.K., Cheung,J.S., Sun,M.K., Yung,Y.L.,
            Chan,H.Y., Wong,R.S.M., Yip,S.F., Lau,K.N., Wong,W.S.,
            Raghupathy,R., Chan,N.P.H. and Ng,M.H.L.
  TITLE     SPINK2 Protein Expression Is an Independent Adverse Prognostic
            Marker in AML and Is Potentially Implicated in the Regulation of
            Ferroptosis and Immune Response
  JOURNAL   Int J Mol Sci 24 (11), 9696 (2023)
   PUBMED   37298647
  REMARK    GeneRIF: SPINK2 Protein Expression Is an Independent Adverse
            Prognostic Marker in AML and Is Potentially Implicated in the
            Regulation of Ferroptosis and Immune Response.
            Publication Status: Online-Only
REFERENCE   2  (bases 1 to 722)
  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   3  (bases 1 to 722)
  AUTHORS   Shyu,R.Y., Wang,C.H., Wu,C.C., Wang,L.K., Chen,M.L., Kuo,C.Y.,
            Lee,M.C., Lin,Y.Y. and Tsai,F.M.
  TITLE     Tazarotene-Induced Gene 1 (TIG1) Interacts with Serine Protease
            Inhibitor Kazal-Type 2 (SPINK2) to Inhibit Cellular Invasion of
            Testicular Carcinoma Cells
  JOURNAL   Biomed Res Int 2019, 6171065 (2019)
   PUBMED   31886233
  REMARK    GeneRIF: Investigated whether tazarotene-induced gene 1 protein
            (TIG1) affects the activity of urokinase plasminogen-type
            activator, which is negatively regulated by serine peptidase
            inhibitor Kazal type 2 (SPINK2), potentially preventing epithelial
            mesenchymal transition and suppressing cell migration and invasion.
            Publication Status: Online-Only
REFERENCE   4  (bases 1 to 722)
  AUTHORS   Nishimiya,D., Kawaguchi,Y., Kodama,S., Nasu,H., Yano,H.,
            Yamaguchi,A., Tamura,M. and Hashimoto,R.
  TITLE     A protein scaffold, engineered SPINK2, for generation of inhibitors
            with high affinity and specificity against target proteases
  JOURNAL   Sci Rep 9 (1), 11436 (2019)
   PUBMED   31391482
  REMARK    Publication Status: Online-Only
REFERENCE   5  (bases 1 to 722)
  AUTHORS   Kherraf,Z.E., Christou-Kent,M., Karaouzene,T., Amiri-Yekta,A.,
            Martinez,G., Vargas,A.S., Lambert,E., Borel,C., Dorphin,B.,
            Aknin-Seifer,I., Mitchell,M.J., Metzler-Guillemain,C.,
            Escoffier,J., Nef,S., Grepillat,M., Thierry-Mieg,N., Satre,V.,
            Bailly,M., Boitrelle,F., Pernet-Gallay,K., Hennebicq,S., Faure,J.,
            Bottari,S.P., Coutton,C., Ray,P.F. and Arnoult,C.
  TITLE     SPINK2 deficiency causes infertility by inducing sperm defects in
            heterozygotes and azoospermia in homozygotes
  JOURNAL   EMBO Mol Med 9 (8), 1132-1149 (2017)
   PUBMED   28554943
  REMARK    GeneRIF: These results demonstrate that SPINK2 is necessary to
            neutralize proteases during their cellular transit toward the
            acrosome and that its deficiency induces a pathological continuum
            ranging from oligoasthenoteratozoospermia in heterozygotes to
            azoospermia in homozygotes.
REFERENCE   6  (bases 1 to 722)
  AUTHORS   Moritz,A., Grzeschik,K.H., Wingender,E. and Fink,E.
  TITLE     Organization and sequence of the gene encoding the human
            acrosin-trypsin inhibitor (HUSI-II)
  JOURNAL   Gene 123 (2), 277-281 (1993)
   PUBMED   8428671
REFERENCE   7  (bases 1 to 722)
  AUTHORS   Moritz,A., Lilja,H. and Fink,E.
  TITLE     Molecular cloning and sequence analysis of the cDNA encoding the
            human acrosin-trypsin inhibitor (HUSI-II)
  JOURNAL   FEBS Lett 278 (1), 127-130 (1991)
   PUBMED   1704312
REFERENCE   8  (bases 1 to 722)
  AUTHORS   Collins,J., Taube,W., Fink,E., Moritz,A. and Fritz,H.
  TITLE     Variants of human seminal acrosin inhibitor (HUSI-II) which inhibit
            human leukocyte elastase
  JOURNAL   Biomed Biochim Acta 50 (4-6), 683-685 (1991)
   PUBMED   1801743
REFERENCE   9  (bases 1 to 722)
  AUTHORS   Fink,E., Hehlein-Fink,C. and Eulitz,M.
  TITLE     Amino acid sequence elucidation of human acrosin-trypsin inhibitor
            (HUSI-II) reveals that Kazal-type proteinase inhibitors are
            structurally related to beta-subunits of glycoprotein hormones
  JOURNAL   FEBS Lett 270 (1-2), 222-224 (1990)
   PUBMED   2226783
REFERENCE   10 (bases 1 to 722)
  AUTHORS   Dietl,T., Kruck,J., Schill,W.B. and Fritz,H.
  TITLE     Localization of seminal plasma proteinase inhibitors in human
            spermatozoa as revealed by the indirect immunofluorescence
            technique
  JOURNAL   Hoppe Seylers Z Physiol Chem 357 (10), 1333-1337 (1976)
   PUBMED   791787
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from HY028205.1, BI561149.1,
            BI562269.1 and AA973772.1.
            
            On Nov 22, 2018 this sequence version replaced NM_001271718.1.
            
            Summary: This gene encodes a member of the family of serine
            protease inhibitors of the Kazal type (SPINK). The encoded protein
            acts as a trypsin and acrosin inhibitor in the genital tract and is
            localized in the spermatozoa. The protein has been associated with
            the progression of lymphomas. Alternative splicing results in
            multiple transcript variants. [provided by RefSeq, Nov 2012].
            
            Transcript Variant: This variant (1) represents the longest
            transcript and encodes 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 :: BI561149.1, SRR5189667.50130.1
                                           [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA2148874, SAMEA2158188
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000506738.6/ ENSP00000425961.1
            RefSeq Select criteria :: based on conservation, longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-94                HY028205.1         171-264
            95-97               BI561149.1         138-140
            98-613              BI562269.1         93-608
            614-614             BI561149.1         658-658
            615-629             BI562269.1         611-625
            630-637             BI561149.1         677-684
            638-643             BI562269.1         635-640
            644-721             BI561149.1         692-769
            722-722             AA973772.1         24-24               c
FEATURES             Location/Qualifiers
     source          1..722
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="4"
                     /map="4q12"
     gene            1..722
                     /gene="SPINK2"
                     /gene_synonym="HUSI-II; SPGF29"
                     /note="serine peptidase inhibitor Kazal type 2"
                     /db_xref="GeneID:6691"
                     /db_xref="HGNC:HGNC:11245"
                     /db_xref="MIM:605753"
     exon            1..244
                     /gene="SPINK2"
                     /gene_synonym="HUSI-II; SPGF29"
                     /inference="alignment:Splign:2.1.0"
     CDS             40..444
                     /gene="SPINK2"
                     /gene_synonym="HUSI-II; SPGF29"
                     /note="isoform 1 precursor is encoded by transcript
                     variant 1; serine protease inhibitor Kazal-type 2;
                     epididymis tissue protein Li 172; serine peptidase
                     inhibitor, Kazal type 2 (acrosin-trypsin inhibitor)"
                     /codon_start=1
                     /product="serine protease inhibitor Kazal-type 2 isoform 1
                     precursor"
                     /protein_id="NP_001258647.1"
                     /db_xref="CCDS:CCDS63971.1"
                     /db_xref="GeneID:6691"
                     /db_xref="HGNC:HGNC:11245"
                     /db_xref="MIM:605753"
                     /translation="MALSVLRLALLLLAVTFAGSARSGPGERGPPEKSGFGSQTGGGP
                     CPAPGGLGDGTRAPVTGGSPEDLPASLIPQFGLFSKYRTPNCSQYRLPGCPRHFNPVC
                     GSDMSTYANECTLCMKIREGGHNIKIIRNGPC"
     exon            245..288
                     /gene="SPINK2"
                     /gene_synonym="HUSI-II; SPGF29"
                     /inference="alignment:Splign:2.1.0"
     exon            289..398
                     /gene="SPINK2"
                     /gene_synonym="HUSI-II; SPGF29"
                     /inference="alignment:Splign:2.1.0"
     exon            399..722
                     /gene="SPINK2"
                     /gene_synonym="HUSI-II; SPGF29"
                     /inference="alignment:Splign:2.1.0"
     regulatory      701..706
                     /regulatory_class="polyA_signal_sequence"
                     /gene="SPINK2"
                     /gene_synonym="HUSI-II; SPGF29"
                     /note="hexamer: AATAAA"
     polyA_site      722
                     /gene="SPINK2"
                     /gene_synonym="HUSI-II; SPGF29"
                     /note="major polyA site"
ORIGIN      
        1 aacagaccgc aggggcaaga cagccggcgc gggaggagga tggcgctgtc ggtgctgcgc
       61 ttggcgctgc tgctcctggc agttaccttc gcaggtagcg ctcggagcgg tcctggcgag
      121 cggggacctc cggagaaaag cgggtttggg agtcagaccg gcggcggacc ctgccctgct
      181 ccgggcggcc tcggcgacgg tacccgcgcg cccgttactg gcggttcccc agaggacctg
      241 ccagcctctc tgatccctca atttggtctg ttttcaaaat atagaacgcc aaactgctct
      301 cagtatagat taccaggatg tcccagacac tttaaccctg tgtgtggcag tgacatgtcc
      361 acttatgcca atgaatgtac tctgtgcatg aaaatcaggg aaggtggtca taatattaaa
      421 atcattcgaa atggaccctg ctgatggagc agtttacaga aaagaagatg gagagaccac
      481 cttcactggc agactagata aattgcattt cccctttttc tcttttcctg tgtttcttta
      541 catgagattt gttaacacac attttctgag agcaggtatg gaagacagcc atgtgtagtg
      601 atggataatt taaagaaaaa aagaatcctt gtttcttggc ttttgctcct ggagttaagc
      661 ttactgccca ggtgacttgt gcattgcttt atttagttga aataaaatca gcattgaatt
      721 ca
//
