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SPINK1 (Serine Peptidase Inhibitor, Kazal Type 1)

Written2014-12Hannu Koistinen1, Outi Itkonen1,2, Ulf-Hakan Stenman1
Department of Clinical Chemistry, University of Helsinki (HK,OI, UHS),, Laboratory Division HUSLAB, Helsinki University Central Hospital (OI), Helsinki, Finland;;

Abstract Review on SPINK1, with data on DNA, on the protein encoded, and where the gene is implicated.

(Note : for Links provided by Atlas : click)


Other namesPCTT
LocusID (NCBI) 6690
Atlas_Id 42375
Location 5q32
Location_base_pair Starts at 147204143 and ends at 147218794 bp from pter ( according to hg19-Feb_2009)  [Mapping]
Local_order Several other SPINK genes have been mapped in the same chromosomal region. From centromere to telomere (Ensembl genome browser 73): DPYSL3 (reverse strand) — JAKMIP-2 (reverse) — SPINK1 (reverse) — SCGB3A2 (forward) — C5orf46 (reverse) — SPINK5 (forward) — SPINK14 (forward) — SPINK6 (forward) — SPINK13 (forward) — SPINK7 (forward).


Note Some other SPINK family members are similar in size, are encoded for by 4 exons and contain a single Kazal type serine protease inhibitor domain.
  Chromosomal location and gene structure of SPINK1 gene (extracted from Ensembl database release 73). Some putative regulatory elements are also shown (Ohmachi et al., 1993; Yasuda et al., 1993; Yasuda et al., 1998; Boulling et al., 2011). After the translation–initiating codon (ATG) exons of the major transcript are shown in black. One splicing variant also contains parts outside of these exons. *, CAATCAATAAC, potential pancreas-specific regulatory element; IL6RE, interleukin-6 responsive element; AP-1, activator protein-1 element; HNF1, hepatic nuclear factor; PTF1, pancreas-specific transcription factor 1.
Description Maps to chromosomal region 5q32: 147,204,131-147,211,349 on reverse (minus) strand (7,219 bp). Gene consists of 4 exons (Horii et al., 1987). Region between 3.8 and 4.0 kb upstream from the translation initiation codon contains an interleukin-6 responsive element (IL6RE) and two potential AP-1 binding sites (Ohmachi et al., 1993; Yasuda et al., 1993). CAATCAATAAC sequence (-149 to -139) is a potential pancreas-specific regulatory element (Yasuda et al., 1998). This region in the SPINK1 promoter has been subsequently identified as a binding site for hepatic nuclear factor (HNF1) (Boulling et al., 2011). A putative binding site for pancreas-specific transcription factor 1 (PTF1) has also been identified within the SPINK1 promoter (Boulling et al., 2011).
Transcription SPINK1 mRNA (NCBI Reference Sequence: NM_003122.3) has 454 bp (Yamamoto et al., 1985). Expression, at least in some cell lines, is regulated by IL-6 (Yasuda et al., 1993). Three differentially spliced mRNA forms have been described (Ensembl, release 73). Two of these have been classified as protein encoding.


Note In the literature, SPINK1 is widely referred to as TATI (tumor-associated trypsin inhibitor) and PSTI (pancreatic secretory trypsin inhibitor).
  Ribbon diagram of recombinant SPINK1 variant (RSCB Protein Data Bank code 1HPT (Hecht et al., 1991)). Protein Workshop program (Moreland et al., 2005) with the surfaces feature (Xu and Zhang, 2009) was used for visualization. Cysteines, forming three disulfide bonds, are shown as balls and sticks. The atoms of asparagine-34 (N34) residue, mutation in which is associated with chronic pancreatitis, and reactive site lysine (K41) are shown as balls without side-chains. Alpha-helix is shown in blue and beta-sheets in yellow.
Description SPINK1(NCBI Reference Sequence: NP_003113.2 ; UniProtKB/Swiss-Prot: ISK1_HUMAN, P00995; PDB: 1cgj; 1cgi; 1hpt) is a 6242 Da secreted protein, containing 79 amino acids. Mature SPINK1 contains 56 amino acids and three disulfide bonds. It has a Kazal-type serine protease inhibitor domain and belongs to the SPINK (serine peptidase inhibitor, Kazal-type) family. SPINK1 has been reported to inhibit several proteases, including human trypsin-1 and -2 (cationic and anionic trypsins), acrosin and granzyme A (Pubols et al., 1974; Huhtala et al., 1984; Turpeinen et al., 1988; Tsuzuki et al., 2003).
Expression SPINK1 was first characterized in bovine pancreas (Kazal et al. 1948) and pancreatic juice (Greene 1966), and later from human pancreatic juice (Fritz et al 1967). SPINK1 is mainly expressed in the pancreas, but to a lesser extent also in several other tissues, e.g., in the gastrointestinal tract, including the liver, duodenum, small intestine, gall bladder, colon, appendix, stomach, and in the genitourinary tract, e.g., prostate and urothelium (Paju and Stenman, 2006; Itkonen and Stenman, 2014). Expression has been found also in kidney, lung, breast, brain, spleen and ovary. SPINK1 is often strongly expressed in ETS-rearrangement-negative prostate cancers (Tomlins et al., 2008). A putative bipartite pancreas-specific transcription factor 1 (PTF1)–binding sequence has been identified (Boulling et al., 2011) in the SPINK1 gene. Outside the pancreas, SPINK1 has been considered an inflammatory pleiotropic cytokine, which is regulated by immune and inflammatory responses. In some cell lines, the expression is regulated by IL-6 (Yasuda et al., 1993). In cultured prostate cancer cells, SPINK1 expression has been shown to be regulated by androgens (Paju et al., 2007). In mouse, the synthesis of Spink3 (mouse orthologue of SPINK1) is dependent upon testicular androgens in the sex accessory tissues, but not in the pancreas (Mills et al., 1987). Very high serum and urine concentrations occur in patients with pancreatitis (Ogawa, 1988). Serum levels of SPINK1 may also be elevated in several cancers, including prostate cancer, ovarian cancer and benign cysts, renal-cell carcinoma, bladder carcinoma, and colorectal cancer (Paju and Stenman, 2006; Itkonen and Stenman, 2014). Severe inflammation, tissue destruction and major trauma leads to an acute phase reaction causing increased circulating SPINK1 concentrations.
  Relative mRNA expression levels of SPINK1 in different tissues. The data is from the IST4 database containing gene expression data in ~10 000 samples ( (Kilpinen et al., 2008).
Localisation SPINK1 is highly expressed in the pancreas (Kazal et al., 1948). It has been localized to the zymogen granules of pancreatic acinar cells, where it protects the pancreas from premature activation of trypsinogens. SPINK1 is secreted into the pancreatic fluid along with digestive enzymes. Many cancers secrete SPINK1 causing elevated serum concentrations (Paju and Stenman, 2006; Itkonen and Stenman, 2014).
Function SPINK1 is a protease inhibitor and has been reported to inhibit human trypsin-1 and -2 (cationic and anionic trypsins), but not trypsin-3 (mesotrypsin)(Sahin-Tóth, 2005). SPINK1 also inhibits granzyme A (Tsuzuki et al., 2003), plasmin, urokinase, tissue plasminogen activator (Turpeinen et al., 1988) and acrosin (Huhtala et al., 1984). SPINK1 has been reported to exert growth stimulation of cultured cells (Niinobu et al., 1990) and to activate the EGF-receptor (Ozaki 2009; Ateeq et al., 2011). However, growth stimulation by mechanisms other than via EGF receptor cannot be ruled out. It has been suggested that SPINK1 mediates tumor growth, differentiation, and angiogenesis via stimulation of the EGF-receptor or by suppression of serine-protease- or caspase-dependent apoptosis (Ateeq et al., 2011; Gouyer et al., 2008). There is evidence that SPINK1 plays a role in tissue differentiation (Ohmuraya et al., 2005) and repair (Marchbank et al., 1996), reproduction (Huhtala, 1984) and regulation of apoptosis (Lu et al., 2011). Over-expression of SPINK1 in cancer could block cancer cell apoptosis resulting in suppression of the immune response and escape of cancer cells from immune surveillance (Lamontagne et al., 2010).
Homology SPINK1 contains a Kazal-type serine protease inhibitor domain, found in many other proteins and especially in members of SPINK family. Apart from this domain, SPINKs do not share high sequence similarity. Apart from SPINK5, SPINKs are of similar size and most genes contain the same number of exons. Some of the family members lack functional annotatation. A functional SPINK1 orthologue, Spink3 (NP_033284.1), has been found in mouse. The rat has two orthologues, Spink1 (NP_690919.1) and Spink3 (NP_036806.1) (HomoloGene, Release 67). Orhologues have been found also in common chimpanzee (XP_001160275.1), rhesus macaque (XP_001102888.1), grey wolf (XP_850557.1) and cattle (NP_001020519.1). Sequence similarity between SPINK1 and EGF has been reported (Hunt et al., 1974).


Note NCBI SNP database ( reports 631 SPINK1 SNPs (Homo sapiens, December 29., 2014). At least 15 missense mutations have been described in the mature polypeptide and three in the signal peptide (Chen and Férec, 2009). Association of mutations with familial pancreatitis and other diseases has been described (see below).

Implicated in

Entity Liver cancer
Note Up-regulation of SPINK1 in tissue has been shown to distinguish hepatocellular carcinoma (HCC) from benign liver disease and normal liver (Marshall A 2013). Elevated serum concentrations of SPINK1 are associated with adverse prognosis of hepatocellular cancer (Lyytinen et al., 2013). Serum SPINK1 is also a useful marker for distinguishing between patients with or without liver metastasis of colorectal and breast cancer (Taccone W 1991; Gaber A 2010).
Disease HCC is the fifth most frequently diagnosed cancer and the second most common cause of cancer death worldwide in men (Jemal et al., 2011). In females the rate is about half of that of men. Half of the cases occur in China and liver cancer is less common in Western countries. HCC is the most common type of liver cancer. It may be caused by viral infections, like hepatitis B and C, or cirrhosis. Most tumors in the liver are not primary liver cancers, but metastases of other cancers.
Prognosis Plasma SPINK1 concentration is elevated in HCC patients and it correlates with tumor size (Ohmachi et al., 1993). Overexpression of SPINK1 mRNA is a stage-independent prognostic factor and a predictor of early tumor recurrence in HCC (Lee et al., 2007) and in cholangiocarcinoma (Tonouchi et al., 2006). Serum SPINK1 has been shown to predict adverse prognosis in HCC (Lyytinen I 2013).
Entity Prostate cancer
Note SPINK1 is often overexpressed in ETS-rearrangement-negative prostate cancers (Tomlins et al., 2008).
Disease Prostate cancer is a considerable health care problem with 342 000 new cases and about 71 000 deaths annually in the EU countries, it is the most frequently diagnosed cancer in men and the third most common cause of cancer death (data from GLOBOCAN 2008). Prostate cancer can be diagnosed by screening at an early stage, when most patients can be cured by radical prostatectomy or radiotherapy. However, about one third of the tumors relapse. Most of these cases can be treated by androgen ablation, but within 3 – 5 years the tumor usually becomes castration-resistant.
Prognosis High SPINK1 expression has been associated with adverse prognosis in prostate cancer in some (Tomlins et al., 2008; Paju et al., 2007), but not all studies (Leinonen et al., 2013; Grupp et al., 2013; Lippolis et al., 2013). The differences may be related to the type of treatment, e.g., surgery or androgen ablation (Leinonen et al., 2013).
Entity Breast cancer
Disease Breast cancer is the most common cancer among women worldwide, accounting for 23% of all cases (Jemal et al., 2011). Although the prognosis has improved due to early diagnosis and therapies, breast cancer remains a major cause of death among women (14% of the cancer deaths). Most neoplasms of the breast originate from the ductal epithelium, while a minority originates from the lobular epithelium. A family history of breast cancer is associated with a 2-3-fold higher risk of the disease.
Prognosis SPINK1 expression is associated with poor prognosis in estrogen receptor-positive breast cancer (Soon et al., 2011).
Entity Colorectal cancer
Note Elevated serum SPINK1 has been observed in some patients with colorectal cancer. (Solakidi et al., 2004; Pasanen et al., 1995)
Disease Colorectal cancer is the third most commonly diagnosed cancer in males and the second in females (Jemal et al., 2011). It originates from colon or rectum, but, based on genetic studies, these are the same tumor. When locally confined, colorectal cancer is often curable by surgery.
Prognosis High expression of SPINK1 has been associated with adverse prognosis and liver metastases (Gaber et al., 2010; Gaber at al., 2009)
Entity Bladder cancer
Note Urinary SPINK1 is a useful marker for high-grade bladder cancer (Kelloniemi et al., 2003; Shariat et al., 2005; Gkialas et al., 2008, Patschan et al., 2012).
Disease Bladder cancer is more common in males than in females and there is great geographic variation in incidence (Jemal et al., 2011). The highest incidence rates are found in Europe, North America and Northern Africa. Smoking, occupational exposures and chronic infection with Schistosoma hematobium are major risk factors. Most bladder cancers originate from the epithelial lining of the urinary bladder. Transitional cell carcinoma is the most common type of bladder cancer.
Prognosis Serum SPINK1 has been shown to be an independent prognostic factor for bladder cancer (Kelloniemi et al., 2003) and for prediction of the response to chemotherapy (Pectasides et al., 1996). SPINK1 expression is stronger in noninvasive than in invasive tumors and decreases with advancing tumor stage (Hotakainen et al., 2006; Patschan et al., 2012).
Entity Ovarian cancer
Note The association of SPINK1 (TATI) and cancer was first observed in a patients with ovarian cancer (Stenman et al. 1982)
Disease Ovarian cancer is the leading cause of death from gynecologic cancer. Most cases are diagnosed at advanced stages and, thus have relatively poor prognosis. The vast majority of ovarian cancers are epithelial. Cancer of the fallopian tubes is similar to ovarian cancer.
Prognosis Increased SPINK1 expression is associated with adverse outcome in epithelial ovarian cancer (Huhtala et al., 1983; Paju et al., 2004). Elevated serum SPINK1 is an independent prognostic factor (Venesmaa et al., 1994; Venesmaa et al., 1998; Paju et al., 2004).
Entity Gastric cancer
Note SPINK1 is detected in the normal gastric mucosa.
Disease Gastric cancers account for 8% of all cancer cases and 10% of the deaths (Jamal et al., 2011). Over 70% of new cases and deaths occur in developing countries and rates are higher in males than in females. Helicobacter pylori infection is the main risk factor, but smoking also increases the risk of gastric cancer.
Prognosis The prognosis of gastric cancer is generally poor and metastases develop frequently. High tissue expression of SPINK1 is a sign of favorable outcome and loss of SPINK1 immunoreactivity in tumor tissue is associated with adverse prognosis (Wiksten et al., 2008). Serum SPINK1 is elevated in 50% of patients with gastric cancer (Solakidi et al., 2004).
Entity Renal cell carcinoma
Disease Renal cancer comprises five distinct histological types. Within each type, there is considerable variation in clinical course and survival. Presently, many tumors are detected at an early stage by sonography performed for various reasons.
Prognosis Prognosis of metastatatic and advanced disease is poor, but surgical treatment of localized disease is often curative. There are no specific serum markers for RCC. Elevated serum SPINK1 has been shown to be an independent prognostic factor in renal cell carcinoma (Meria et al., 1995; Paju et al., 2001).
Entity Pancreatitis, hereditary (Online Mendelian Inheritance in Man® (OMIM): 167800)
Note SPINK1 polymorphisms are found more frequently in patients with hereditary and idiopatic chronic pancreatitis (23%) than in healthy controls (0.4%) (Witt et al., 2000; Chen and Férec, 2009). Several mutations of SPINK1 cause loss-of-function by splicing, frameshift, deletion or initiation codon mutation. Some missense mutations have been suggested to affect polypeptide folding, leading to intracellular retention and degradation of the mutated polypeptide (Boulling et al., 2012). These mutations are suggested to cause pancreatitis because of SPINK1 deficiency. The most common mutation worldwide is a 101A>G transition within exon 3 resulting in the substitution of Asp by Ser at codon 34 (N34S) (Witt et al., 2000). The frequency of the N34S mutation in pancreatitis patients is 9–29 % as compared to 0.5-2.5 % in the general population. In functional studies no differences in SPINK1 expression, trypsin inhibitory activity or binding to trypsin have been found between wild-type and N34S-SPINK1. The mutations D50E, Y54H and R67C result in marked reduction or complete loss of SPINK1 secretion, and are classified as disease-causing mutations although trypsin inhibitory activity of the mutated proteins was retained (Király et al., 2007). The P55S mutation of SPINK1 is found in healthy controls as well as in pancreatitis patients with an incidence of 0.5-1.3 % and 0.9-7 %, respectively (Witt et al., 2000; Pfutzer et al., 2000). The role of this mutation in pancreatitis remains unclear.
Disease Elevated serum and urine concentrations are caused by pancreatitis, i.e., inflammation of pancreas. Some hereditary mutations of the SPINK1 gene, increase the risk of pancreatitis. These cases are characterized by recurrent episodes of pancreatitis starting at young age. These episodes often lead to tissue damage and loss of pancreatic function, including insulin production. This also increases the risk of pancreatic cancer.
Prognosis The life expectancy of the pancreatitis patients is close to normal. However, patients have an increased risk of developing pancreatic cancer (Weiss, 2014).
Entity Tropical calcific pancreatitis
Note SPINK1 mutations, especially the N34S mutation has been reported to associate with tropical calcific pancreatitis (Bhatia et al., 2002).
Disease Tropical calcific pancreatitis (OMIM: 608189) is a special type of chronic pancreatitis that occurs only in tropical countries.
Prognosis Patients usually present at young age with recurrent abdominal pain and nutritional deficiencies. The disease often leads to beta-cell deficiency and diabetes requiring insulin before the age of 30. Prognosis is dismal and many patients succumb to complications caused by malnutrition.


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PMID 18882536
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PMID 3428272
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Urology 2008 Nov;72(5):1159-63
PMID 18514770
Systematic bioinformatic analysis of expression levels of 17,330 human genes across 9,783 samples from 175 types of healthy and pathological tissues
Kilpinen S, Autio R, Ojala K, Iljin K, Bucher E, Sara H, Pisto T, Saarela M, Skotheim RI, Björkman M, Mpindi JP, Haapa-Paananen S, Vainio P, Edgren H, Wolf M, Astola J, Nees M, Hautaniemi S, Kallioniemi O
Genome Biol 2008;9(9):R139
PMID 18803840
Chronic pancreatitis: genetics and pathogenesis
Chen JM, Férec C
Annu Rev Genomics Hum Genet 2009;10:63-87
PMID 19453252
High expression of tumour-associated trypsin inhibitor correlates with liver metastasis and poor prognosis in colorectal cancer
Gaber A, Johansson M, Stenman UH, Hotakainen K, Pontén F, Glimelius B, Bjartell A, Jirström K, Birgisson H
Br J Cancer 2009 May 19;100(10):1540-8
PMID 19384300
Serine protease inhibitor Kazal type 1 promotes proliferation of pancreatic cancer cells through the epidermal growth factor receptor
Ozaki N, Ohmuraya M, Hirota M, Ida S, Wang J, Takamori H, Higashiyama S, Baba H, Yamamura K
Mol Cancer Res 2009 Sep;7(9):1572-81
PMID 19737965
Generating triangulated macromolecular surfaces by Euclidean Distance Transform
Xu D, Zhang Y
PLoS One 2009 Dec 2;4(12):e8140
PMID 19956577
Hepatitis B and hepatitis C virus replication upregulates serine protease inhibitor Kazal, resulting in cellular resistance to serine protease-dependent apoptosis
Lamontagne J, Pinkerton M, Block TM, Lu X
J Virol 2010 Jan;84(2):907-17
PMID 19864383
Increased serum levels of tumour-associated trypsin inhibitor independently predict a poor prognosis in colorectal cancer patients
Gaber A, Nodin B, Hotakainen K, Nilsson E, Stenman UH, Bjartell A, Birgisson H, Jirström K
BMC Cancer 2010 Sep 17;10:498
PMID 20849596
Therapeutic targeting of SPINK1-positive prostate cancer
Ateeq B, Tomlins SA, Laxman B, Asangani IA, Cao Q, Cao X, Li Y, Wang X, Feng FY, Pienta KJ, Varambally S, Chinnaiyan AM
Sci Transl Med 2011 Mar 2;3(72):72ra17
PMID 21368222
Global cancer statistics
Jemal A, Bray F, Center MM, Ferlay J, Ward E, Forman D
CA Cancer J Clin 2011 Mar-Apr;61(2):69-90
PMID 21296855
Combined genomic and phenotype screening reveals secretory factor SPINK1 as an invasion and survival factor associated with patient prognosis in breast cancer
Soon WW, Miller LD, Black MA, Dalmasso C, Chan XB, Pang B, Ong CW, Salto-Tellez M, Desai KV, Liu ET
EMBO Mol Med 2011 Aug;3(8):451-64
PMID 21656687
Assessing the pathological relevance of SPINK1 promoter variants
Boulling A, Witt H, Chandak GR, Masson E, Paliwal S, Bhaskar S, Reddy DN, Cooper DN, Chen JM, Férec C
Eur J Hum Genet 2011 Oct;19(10):1066-73
PMID 21610753
Role of the inflammatory protein serine protease inhibitor Kazal in preventing cytolytic granule granzyme A-mediated apoptosis
Lu F, Lamontagne J, Sun A, Pinkerton M, Block T, Lu X
Immunology 2011 Dec;134(4):398-408
PMID 22043941
Functional analysis of eight missense mutations in the SPINK1 gene
Boulling A, Keiles S, Masson E, Chen JM, Férec C
Pancreas 2012 Mar;41(2):329-30
PMID 22343981
Do genetic variants in the SPINK1 gene affect the level of serum PSTI? J Gastroenterol
Kume K, Masamune A, Ariga H, Hayashi S, Takikawa T, Miura S, Suzuki N, Kikuta K, Hamada S, Hirota M, Kanno A, Shimosegawa T
2012 Nov;47(11):1267-74 doi: 10
PMID 22526274
SPINK1 expression is tightly linked to 6q15- and 5q21-deleted ERG-fusion negative prostate cancers but unrelated to PSA recurrence
Grupp K, Diebel F, Sirma H, Simon R, Breitmeyer K, Steurer S, Hube-Magg C, Prien K, Pham T, Weigand P, Michl U, Heinzer H, Kluth M, Minner S, Tsourlakis MC, Izbicki JR, Sauter G, Schlomm T, Wilczak W
Prostate 2013 Nov;73(15):1690-8
PMID 23843146
Association of tumor-associated trypsin inhibitor (TATI) expression with molecular markers, pathologic features and clinical outcomes of urothelial carcinoma of the urinary bladder
Patschan O, Shariat SF, Chade DC, Karakiewicz PI, Ashfaq R, Lotan Y, Hotakainen K, Stenman UH, Bjartell A
World J Urol 2012 Dec;30(6):785-94
PMID 21739120
A high-density tissue microarray from patients with clinically localized prostate cancer reveals ERG and TATI exclusivity in tumor cells
Lippolis G, Edsjö A, Stenman UH, Bjartell A
Prostate Cancer Prostatic Dis 2013 Jun;16(2):145-50
PMID 23459095
Prognostic significance of tumor-associated trypsin inhibitor (TATI) and human chorionic gonadotropin-beta (hCGbeta) in patients with hepatocellular carcinoma
Lyytinen I, Lempinen M, Nordin A, Mäkisalo H, Stenman UH, Isoniemi H
Scand J Gastroenterol 2013 Sep;48(9):1066-73
PMID 23889187
Global gene expression profiling reveals SPINK1 as a potential hepatocellular carcinoma marker
Marshall A, Lukk M, Kutter C, Davies S, Alexander G, Odom DT
PLoS One 2013;8(3):e59459
PMID 23527199
Loss of PTEN is associated with aggressive behavior in ERG-positive prostate cancer
Leinonen KA, Saramäki OR, Furusato B, Kimura T, Takahashi H, Egawa S, Suzuki H, Keiger K, Ho Hahm S, Isaacs WB, Tolonen TT, Stenman UH, Tammela TL, Nykter M, Bova GS, Visakorpi T
Cancer Epidemiol Biomarkers Prev 2013 Dec;22(12):2333-44
PMID 24083995
Pancreatic cancer risk in hereditary pancreatitis
Weiss FU
Front Physiol 2014 Feb 20;5:70
PMID 24600409
TATI as a biomarker
Itkonen O, Stenman UH
Clin Chim Acta 2014 Apr 20;431:260-9
PMID 24583226


This paper should be referenced as such :
Koistinen H, Itkonen O, Stenman UH
SPINK1 (Serine Peptidase Inhibitor, Kazal Type 1);
Atlas Genet Cytogenet Oncol Haematol. in press
On line version :

Other Solid tumors implicated (Data extracted from papers in the Atlas)
  Pancreatic tumors: an overview

External links

HGNC (Hugo)SPINK1   11244
Entrez_Gene (NCBI)SPINK1  6690  serine peptidase inhibitor, Kazal type 1
GeneCards (Weizmann)SPINK1
Ensembl hg19 (Hinxton)ENSG00000164266 [Gene_View]  chr5:147204143-147218794 [Contig_View]  SPINK1 [Vega]
Ensembl hg38 (Hinxton)ENSG00000164266 [Gene_View]  chr5:147204143-147218794 [Contig_View]  SPINK1 [Vega]
ICGC DataPortalENSG00000164266
Genatlas (Paris)SPINK1
SOURCE (Princeton)SPINK1
Genomic and cartography
GoldenPath hg19 (UCSC)SPINK1  -     chr5:147204143-147218794 -  5q32   [Description]    (hg19-Feb_2009)
GoldenPath hg38 (UCSC)SPINK1  -     5q32   [Description]    (hg38-Dec_2013)
EnsemblSPINK1 - 5q32 [CytoView hg19]  SPINK1 - 5q32 [CytoView hg38]
Mapping of homologs : NCBISPINK1 [Mapview hg19]  SPINK1 [Mapview hg38]
OMIM167790   167800   608189   
Gene and transcription
Genbank (Entrez)AI990990 BC025790 BU074107 CB159576 DQ893613
RefSeq transcript (Entrez)NM_003122
RefSeq genomic (Entrez)NC_000005 NC_018916 NG_008356 NT_029289 NW_004929324
Consensus coding sequences : CCDS (NCBI)SPINK1
Cluster EST : UnigeneHs.407856 [ NCBI ]
CGAP (NCI)Hs.407856
Alternative Splicing : Fast-db (Paris)GSHG0025158
Alternative Splicing GalleryENSG00000164266
Gene ExpressionSPINK1 [ NCBI-GEO ]     SPINK1 [ SEEK ]   SPINK1 [ MEM ]
SOURCE (Princeton)Expression in : [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
Protein : pattern, domain, 3D structure
UniProt/SwissProtP00995 (Uniprot)
NextProtP00995  [Medical]  [Publications]
With graphics : InterProP00995
Splice isoforms : SwissVarP00995 (Swissvar)
Domaine pattern : Prosite (Expaxy)KAZAL_1 (PS00282)    KAZAL_2 (PS51465)   
Domains : Interpro (EBI)Kazal_dom    Prot_inh_Kazal-m   
Related proteins : CluSTrP00995
Domain families : Pfam (Sanger)Kazal_1 (PF00050)   
Domain families : Pfam (NCBI)pfam00050   
Domain families : Smart (EMBL)KAZAL (SM00280)  
DMDM Disease mutations6690
Blocks (Seattle)P00995
PDB (SRS)1CGI    1CGJ    1HPT   
PDB (PDBSum)1CGI    1CGJ    1HPT   
PDB (IMB)1CGI    1CGJ    1HPT   
PDB (RSDB)1CGI    1CGJ    1HPT   
Human Protein AtlasENSG00000164266
Peptide AtlasP00995
IPIIPI00020687   IPI00966882   
Protein Interaction databases
IntAct (EBI)P00995
Ontologies - Pathways
Ontology : AmiGOendopeptidase inhibitor activity  serine-type endopeptidase inhibitor activity  protein binding  extracellular space  negative regulation of nitric oxide mediated signal transduction  negative regulation of peptidyl-tyrosine phosphorylation  regulation of acrosome reaction  extracellular exosome  negative regulation of calcium ion import  negative regulation of serine-type endopeptidase activity  regulation of store-operated calcium entry  
Ontology : EGO-EBIendopeptidase inhibitor activity  serine-type endopeptidase inhibitor activity  protein binding  extracellular space  negative regulation of nitric oxide mediated signal transduction  negative regulation of peptidyl-tyrosine phosphorylation  regulation of acrosome reaction  extracellular exosome  negative regulation of calcium ion import  negative regulation of serine-type endopeptidase activity  regulation of store-operated calcium entry  
Protein Interaction DatabaseSPINK1
Atlas of Cancer Signalling NetworkSPINK1
Wikipedia pathwaysSPINK1
Gene fusions - Rearrangements
Fusion Cancer (Beijing)MUDENG [SPINK1]  -  5q32 [FUSC003165]
Fusion Cancer (Beijing)PSG1 [19q13.2]  -  SPINK1 [5q32]  [FUSC003172]
Fusion Cancer (Beijing)RBM15B [3p21.2]  -  SPINK1 [5q32]  [FUSC003174]
Fusion Cancer (Beijing)SPINK1 [5q32]  -  ARL4A [7p21.3]  [FUSC003178]
Fusion Cancer (Beijing)SPINK1 [5q32]  -  GRM4 [6p21.31]  [FUSC003179]
Fusion Cancer (Beijing)SPINK1 [5q32]  -  TAS2R38 [7q34]  [FUSC003180]
Fusion Cancer (Beijing)SYT14 [1q32.2]  -  SPINK1 [5q32]  [FUSC003182]
Polymorphisms : SNP, variants
NCBI Variation ViewerSPINK1 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)SPINK1
Exome Variant ServerSPINK1
Genetic variants : HAPMAPSPINK1
Genomic Variants (DGV)SPINK1 [DGVbeta]
ICGC Data PortalSPINK1 
TCGA Data PortalSPINK1 
Tumor PortalSPINK1
TCGA Copy Number PortalSPINK1
Somatic Mutations in Cancer : COSMICSPINK1 
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
DoCM (Curated mutations)SPINK1
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] 
DECIPHER (Syndromes)5:147204143-147218794
CONAN: Copy Number AnalysisSPINK1 
Mutations and Diseases : HGMDSPINK1
OMIM167790    167800    608189   
NextProtP00995 [Medical]
Huge Navigator SPINK1 [HugePedia]  SPINK1 [HugeCancerGEM]
snp3D : Map Gene to Disease6690
DGIdb (Drug Gene Interaction db)SPINK1
General knowledge
Homologs : HomoloGeneSPINK1
Homology/Alignments : Family Browser (UCSC)SPINK1
Phylogenetic Trees/Animal Genes : TreeFamSPINK1
Chemical/Protein Interactions : CTD6690
Chemical/Pharm GKB GenePA36074
Clinical trialSPINK1
Cancer Resource (Charite)ENSG00000164266
Other databases
PubMed168 Pubmed reference(s) in Entrez
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

Search in all EBI   NCBI

© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Wed Nov 25 17:46:20 CET 2015

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