Homo sapiens serine peptidase inhibitor, Kazal type 1 (SPINK1), mRNA.
| RefSeq Version | NM_003122.3, 195234783 |
| Length | 454 bp |
| Structure | linear |
| Update Date | 01-MAY-2011 |
| Organism | Homo sapiens (human) |
| Definition | Homo sapiens serine peptidase inhibitor, Kazal type 1 (SPINK1), mRNA. |
| Product | pancreatic secretory trypsin inhibitor precursor |
| Comment | 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]. |
| RefSeq | NP_003113.2 |
| CDS | 121..360 | Exon (1) | 1..175 | Exon (2) | 1..175 | Exon (3) | 176..207 | Exon (4) | 208..314 | Exon (5) | 315..441 |
| Translation | MKVTGIFLLSALALLSLSGNTGADSLGREAKCYNELNGCTKIYDPVCGTDGNTYPNECVL
CFENRKRQTSILIQKSGPC
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| Position | Chain | Variation | Link |
| complement(39) | - | t, c | dbSNP:6865184 |
| complement(80) | - | t, c | dbSNP:79438751 |
| 122 | + | c, t | dbSNP:104893938 |
| 156 | + | c, g | dbSNP:35877720 |
| 161 | + | c, g, t | dbSNP:104893939 |
| 195 | + | c, t | dbSNP:35006579 |
| complement(200) | - | t, c | dbSNP:115860715 |
| 221 | + | a, c, g, t | dbSNP:17107315 |
| complement(283) | - | g, c | dbSNP:111966833 |
| 294 | + | c, t | dbSNP:35737774 |
| 320 | + | a, g | dbSNP:35523678 |
| 351 | + | a, g | dbSNP:34809998 |
| 363 | + | a, g | dbSNP:1804247 |
| 392 | + | c, t | dbSNP:11319 |
| complement(411) | - | g, a | dbSNP:113527737 |
| complement(440) | - | g, c | dbSNP:112657606 |
| complement(441) | - | g, c | dbSNP:113677347 |
| Gene Symbol | SPINK1 |
| Gene Synonym | PCTT; PSTI; Spink3; TATI |
| Chromosome | 5 |
| Locus Map | 5q32 |
| All Transcripts | NM_003122 |
| Title | Genetic basis of chronic pancreatitis in Asia Pacific region . |
| Author | Reddy,D.N. and Prasad,S.S. |
| Journal | J. Gastroenterol. Hepatol. 26 SUPPL 2, 2-5 (2011) |
| Title | The prevalence of cationic trypsinogen (PRSS1) and serine protease inhibitor, Kazal type 1 (SPINK1) gene mutations in Polish patients with alcoholic and idiopathic chronic pancreatitis . |
| Author | Gasiorowska,A., Talar-Wojnarowska,R., Czupryniak,L., Smolarz,B., Romanowicz-Makowska,H., Kulig,A. and Malecka-Panas,E. |
| Journal | Dig. Dis. Sci. 56 (3), 894-901 (2011) |
| Title | Combined bicarbonate conductance-impairing variants in CFTR and SPINK1 variants are associated with chronic pancreatitis in patients without cystic fibrosis . |
| Author | Schneider,A., Larusch,J., Sun,X., Aloe,A., Lamb,J., Hawes,R., Cotton,P., Brand,R.E., Anderson,M.A., Money,M.E., Banks,P.A., Lewis,M.D., Baillie,J., Sherman,S., Disario,J., Burton,F.R., Gardner,T.B., Amann,S.T., Gelrud,A., George,R., Rockacy,M.J., Kassabian,S., Martinson,J., Slivka,A., Yadav,D., Oruc,N., Barmada,M.M., Frizzell,R. and Whitcomb,D.C. |
| Journal | Gastroenterology 140 (1), 162-171 (2011) |
| Title | Multifactorial genesis of pancreatitis in primary hyperparathyroidism: evidence for 'protective' (PRSS2) and 'destructive' (CTRC) genetic factors . |
| Author | Felderbauer,P., Karakas,E., Fendrich,V., Lebert,R., Bartsch,D.K. and Bulut,K. |
| Journal | Exp. Clin. Endocrinol. Diabetes 119 (1), 26-29 (2011) |
| Title | Increased serum levels of tumour-associated trypsin inhibitor independently predict a poor prognosis in colorectal cancer patients . |
| Author | Gaber,A., Nodin,B., Hotakainen,K., Nilsson,E., Stenman,U.H., Bjartell,A., Birgisson,H. and Jirstrom,K. |
| Journal | BMC Cancer 10, 498 (2010) |
| Title | Three-dimensional structure of a recombinant variant of human pancreatic secretory trypsin inhibitor (Kazal type) . |
| Author | Hecht,H.J., Szardenings,M., Collins,J. and Schomburg,D. |
| Journal | J. Mol. Biol. 225 (4), 1095-1103 (1992) |
| Title | Interactions of pancreatic secretory trypsin inhibitor in small intestinal juice: its hydrolysis and protection by intraluminal factors . |
| Author | Freeman,T.C., Davies,R. and Calam,J. |
| Journal | Clin. Chim. Acta 195 (1-2), 27-39 (1990) |
| Title | A low-molecular-mass Kazal-type protease inhibitor isolated from rat hepatocytes is identical to rat pancreatic secretory trypsin inhibitor II. Purification and amino acid sequence . |
| Author | Kido,H., Yokogoshi,Y. and Katunuma,N. |
| Journal | Eur. J. Biochem. 188 (3), 501-506 (1990) |
| Title | Expression of pancreatic secretory trypsin inhibitor gene in neoplastic tissues . |
| Author | Tomita,N., Horii,A., Yamamoto,T., Ogawa,M., Mori,T. and Matsubara,K. |
| Journal | FEBS Lett. 225 (1-2), 113-119 (1987) |
| Title | The primary structure of the human pancreatic secretory trypsin inhibitor. Amino acid sequence of the reduced S-aminoethylated protein . |
| Author | Bartelt,D.C., Shapanka,R. and Greene,L.J. |
| Journal | Arch. Biochem. Biophys. 179 (1), 189-199 (1977) |
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