LOCUS       NM_001379610             413 bp    mRNA    linear   PRI 12-OCT-2024
DEFINITION  Homo sapiens serine peptidase inhibitor Kazal type 1 (SPINK1),
            transcript variant 3, mRNA.
ACCESSION   NM_001379610
VERSION     NM_001379610.1
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 413)
  AUTHORS   Wang,S., Sun,Y., Shao,D., Pan,Y., Gao,X., Zhao,P., Liu,Q.,
            Shang,G., Shang,W., Fu,Z. and Sun,Y.
  TITLE     High expression of serine protease inhibitor kazal type 1 predicts
            poor prognosis and promotes the progression and invasion of oral
            tongue squamous cell carcinoma
  JOURNAL   Arch Oral Biol 164, 106003 (2024)
   PUBMED   38781741
  REMARK    GeneRIF: High expression of serine protease inhibitor kazal type 1
            predicts poor prognosis and promotes the progression and invasion
            of oral tongue squamous cell carcinoma.
REFERENCE   2  (bases 1 to 413)
  AUTHORS   Hu,N.A., Zhang,S., Jin,A., Guo,L., Qu,Z. and Wang,J.
  TITLE     SPINK1 contributes to proliferation and clonal formation of HT29
            cells through Beclin1 associated enhanced autophagy
  JOURNAL   Oncol Res 30 (2), 89-97 (2023)
   PUBMED   37305325
  REMARK    GeneRIF: SPINK1 contributes to proliferation and clonal formation
            of HT29 cells through Beclin1 associated enhanced autophagy.
            Publication Status: Online-Only
REFERENCE   3  (bases 1 to 413)
  AUTHORS   Samgina,T.A.
  TITLE     [Influence of environmental factors and polymorphic loci rs6580502
            of the SPINK1 gene, rs10273639 of the PRSS1 gene, rs213950 of the
            CFTR gene on the risk of developing acute alcoholic-alimentary
            pancreatitis]
  JOURNAL   Vopr Pitan 92 (1), 85-91 (2023)
   PUBMED   36883543
  REMARK    GeneRIF: [Influence of environmental factors and polymorphic loci
            rs6580502 of the SPINK1 gene, rs10273639 of the PRSS1 gene,
            rs213950 of the CFTR gene on the risk of developing acute
            alcoholic-alimentary pancreatitis].
REFERENCE   4  (bases 1 to 413)
  AUTHORS   Nikkola,A., Makela,K.A., Herzig,K.H., Mutt,S.J., Prasannan,A.,
            Seppanen,H., Lehtimaki,T., Kahonen,M., Raitakari,O., Seppala,I.,
            Pakkanen,P., Nordback,I., Sand,J. and Laukkarinen,J.
  TITLE     Pancreatic Secretory Trypsin Inhibitor (SPINK1) Gene Mutation in
            Patients with Acute Alcohol Pancreatitis (AAP) Compared to Healthy
            Controls and Heavy Alcohol Users without Pancreatitis
  JOURNAL   Int J Mol Sci 23 (24), 15726 (2022)
   PUBMED   36555366
  REMARK    GeneRIF: Pancreatic Secretory Trypsin Inhibitor (SPINK1) Gene
            Mutation in Patients with Acute Alcohol Pancreatitis (AAP) Compared
            to Healthy Controls and Heavy Alcohol Users without Pancreatitis.
            Publication Status: Online-Only
REFERENCE   5  (bases 1 to 413)
  AUTHORS   Calvo,S.E., Pagliarini,D.J. and Mootha,V.K.
  TITLE     Upstream open reading frames cause widespread reduction of protein
            expression and are polymorphic among humans
  JOURNAL   Proc Natl Acad Sci U S A 106 (18), 7507-7512 (2009)
   PUBMED   19372376
  REMARK    GeneRIF: Includes the study of a disease-related upstream ORF in
            this gene, and shows that it functions to reduce protein levels by
            100%.
REFERENCE   6  (bases 1 to 413)
  AUTHORS   Witt,H., Luck,W., Hennies,H.C., Classen,M., Kage,A., Lass,U.,
            Landt,O. and Becker,M.
  TITLE     Mutations in the gene encoding the serine protease inhibitor, Kazal
            type 1 are associated with chronic pancreatitis
  JOURNAL   Nat Genet 25 (2), 213-216 (2000)
   PUBMED   10835640
REFERENCE   7  (bases 1 to 413)
  AUTHORS   Shelton,C., LaRusch,J. and Whitcomb,D.C.
  TITLE     Pancreatitis Overview
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   24624459
REFERENCE   8  (bases 1 to 413)
  AUTHORS   Hecht,H.J., Szardenings,M., Collins,J. and Schomburg,D.
  TITLE     Three-dimensional structure of a recombinant variant of human
            pancreatic secretory trypsin inhibitor (Kazal type)
  JOURNAL   J Mol Biol 225 (4), 1095-1103 (1992)
   PUBMED   1613792
REFERENCE   9  (bases 1 to 413)
  AUTHORS   Freeman,T.C., Davies,R. and Calam,J.
  TITLE     Interactions of pancreatic secretory trypsin inhibitor in small
            intestinal juice: its hydrolysis and protection by intraluminal
            factors
  JOURNAL   Clin Chim Acta 195 (1-2), 27-39 (1990)
   PUBMED   2093478
REFERENCE   10 (bases 1 to 413)
  AUTHORS   Bartelt,D.C., Shapanka,R. and Greene,L.J.
  TITLE     The primary structure of the human pancreatic secretory trypsin
            inhibitor. Amino acid sequence of the reduced S-aminoethylated
            protein
  JOURNAL   Arch Biochem Biophys 179 (1), 189-199 (1977)
   PUBMED   843082
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC011352.6.
            This sequence is a reference standard in the RefSeqGene project.
            
            Summary: The protein encoded by this gene is a trypsin inhibitor,
            which is secreted from pancreatic acinar cells into pancreatic
            juice. It is thought to function in the prevention of
            trypsin-catalyzed premature activation of zymogens within the
            pancreas and the pancreatic duct. Mutations in this gene are
            associated with hereditary pancreatitis and tropical calcific
            pancreatitis. [provided by RefSeq, Oct 2008].
            
            Transcript Variant: Variants 1, 2 and 3 all encode the same
            protein.
            
            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 :: CK905024.1, AA918966.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1966682, SAMEA1968189
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000296695.10/ ENSP00000296695.5
            RefSeq Select criteria :: based on manual assertion, conservation,
                                      expression, longest protein
            ##RefSeq-Attributes-END##
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-149               AC011352.6         99544-99692
            150-181             AC011352.6         101585-101616
            182-288             AC011352.6         103087-103193
            289-413             AC011352.6         106509-106633
FEATURES             Location/Qualifiers
     source          1..413
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="5"
                     /map="5q32"
     gene            1..413
                     /gene="SPINK1"
                     /gene_synonym="PCTT; PSTI; Spink3; TATI; TCP"
                     /note="serine peptidase inhibitor Kazal type 1"
                     /db_xref="GeneID:6690"
                     /db_xref="HGNC:HGNC:11244"
                     /db_xref="MIM:167790"
     exon            1..149
                     /gene="SPINK1"
                     /gene_synonym="PCTT; PSTI; Spink3; TATI; TCP"
                     /inference="alignment:Splign:2.1.0"
     CDS             95..334
                     /gene="SPINK1"
                     /gene_synonym="PCTT; PSTI; Spink3; TATI; TCP"
                     /note="serine protease inhibitor, Kazal type 1;
                     tumor-associated trypsin inhibitor; pancreatic secretory
                     trypsin inhibitor"
                     /codon_start=1
                     /product="serine protease inhibitor Kazal-type 1
                     precursor"
                     /protein_id="NP_001366539.1"
                     /db_xref="CCDS:CCDS4286.1"
                     /db_xref="GeneID:6690"
                     /db_xref="HGNC:HGNC:11244"
                     /db_xref="MIM:167790"
                     /translation="MKVTGIFLLSALALLSLSGNTGADSLGREAKCYNELNGCTKIYD
                     PVCGTDGNTYPNECVLCFENRKRQTSILIQKSGPC"
     exon            150..181
                     /gene="SPINK1"
                     /gene_synonym="PCTT; PSTI; Spink3; TATI; TCP"
                     /inference="alignment:Splign:2.1.0"
     exon            182..288
                     /gene="SPINK1"
                     /gene_synonym="PCTT; PSTI; Spink3; TATI; TCP"
                     /inference="alignment:Splign:2.1.0"
     exon            289..413
                     /gene="SPINK1"
                     /gene_synonym="PCTT; PSTI; Spink3; TATI; TCP"
                     /inference="alignment:Splign:2.1.0"
     regulatory      393..398
                     /regulatory_class="polyA_signal_sequence"
                     /gene="SPINK1"
                     /gene_synonym="PCTT; PSTI; Spink3; TATI; TCP"
                     /note="hexamer: AATAAA"
     polyA_site      413
                     /gene="SPINK1"
                     /gene_synonym="PCTT; PSTI; Spink3; TATI; TCP"
                     /note="major polyA site"
ORIGIN      
        1 atctgccata tgacccttcc agtcccaggc ttctgaagag acgtggtaag tgcggtgcag
       61 ttttcaactg acctctggac gcagaacttc agccatgaag gtaacaggca tctttcttct
      121 cagtgccttg gccctgttga gtctatctgg taacactgga gctgactccc tgggaagaga
      181 ggccaaatgt tacaatgaac ttaatggatg caccaagata tatgaccctg tctgtgggac
      241 tgatggaaat acttatccca atgaatgcgt gttatgtttt gaaaatcgga aacgccagac
      301 ttctatcctc attcaaaaat ctgggccttg ctgagaacca aggttttgaa atcccatcag
      361 gtcaccgcga ggcctgactg gccttattgt tgaataaatg tatctgaata tcc
//
