Details for: SPINK1

Gene ID: 6690

Symbol: SPINK1

Ensembl ID: ENSG00000164266

Description: serine peptidase inhibitor Kazal type 1

Associated with

  • Cellular response to peptide hormone stimulus
    (GO:0071375)
  • Endopeptidase inhibitor activity
    (GO:0004866)
  • Extracellular exosome
    (GO:0070062)
  • Negative regulation of calcium ion import
    (GO:0090281)
  • Negative regulation of nitric oxide mediated signal transduction
    (GO:0010751)
  • Negative regulation of peptidyl-tyrosine phosphorylation
    (GO:0050732)
  • Nitric oxide mediated signal transduction
    (GO:0007263)
  • Positive regulation of cytosolic calcium ion concentration
    (GO:0007204)
  • Positive regulation of epithelial cell proliferation
    (GO:0050679)
  • Positive regulation of pancreatic juice secretion
    (GO:0090187)
  • Positive regulation of peptide hormone secretion
    (GO:0090277)
  • Protein binding
    (GO:0005515)
  • Regulation of acrosome reaction
    (GO:0060046)
  • Regulation of store-operated calcium entry
    (GO:2001256)
  • Response to ethanol
    (GO:0045471)
  • Response to nutrient levels
    (GO:0031667)
  • Serine-type endopeptidase inhibitor activity
    (GO:0004867)
  • Sperm capacitation
    (GO:0048240)

Cells (max top 100)

(Marker Score score is uniquely calculated using our advanced thresholding algorithms to reveal cell-specific gene markers)

  • Cell Name: epithelial cell of exocrine pancreas (CL1001433)
    Fold Change: 8.33
    Marker Score: 4698
  • Cell Name: foveolar cell of stomach (CL0002179)
    Fold Change: 4.64
    Marker Score: 29602
  • Cell Name: acinar cell (CL0000622)
    Fold Change: 4.02
    Marker Score: 2833
  • Cell Name: intestine goblet cell (CL0019031)
    Fold Change: 3.63
    Marker Score: 3480
  • Cell Name: mucous neck cell (CL0000651)
    Fold Change: 3.24
    Marker Score: 7342
  • Cell Name: enterocyte (CL0000584)
    Fold Change: 3.1
    Marker Score: 14888
  • Cell Name: pancreatic ductal cell (CL0002079)
    Fold Change: 2.96
    Marker Score: 3070
  • Cell Name: stem cell (CL0000034)
    Fold Change: 2.84
    Marker Score: 6755
  • Cell Name: renal intercalated cell (CL0005010)
    Fold Change: 2.82
    Marker Score: 1504
  • Cell Name: bladder urothelial cell (CL1001428)
    Fold Change: 2.65
    Marker Score: 3908
  • Cell Name: pancreatic acinar cell (CL0002064)
    Fold Change: 2.57
    Marker Score: 5431
  • Cell Name: peptic cell (CL0000155)
    Fold Change: 2.57
    Marker Score: 1074
  • Cell Name: enterocyte of colon (CL1000347)
    Fold Change: 2.56
    Marker Score: 3946
  • Cell Name: double negative thymocyte (CL0002489)
    Fold Change: 2.53
    Marker Score: 3497
  • Cell Name: taste receptor cell (CL0000209)
    Fold Change: 2.52
    Marker Score: 2176
  • Cell Name: PP cell (CL0000696)
    Fold Change: 2.35
    Marker Score: 530
  • Cell Name: enterocyte of epithelium proper of ileum (CL1000342)
    Fold Change: 2.07
    Marker Score: 599
  • Cell Name: colon epithelial cell (CL0011108)
    Fold Change: 2.06
    Marker Score: 6455
  • Cell Name: kidney collecting duct intercalated cell (CL1001432)
    Fold Change: 2.02
    Marker Score: 3345
  • Cell Name: enterocyte of epithelium of large intestine (CL0002071)
    Fold Change: 2
    Marker Score: 1990
  • Cell Name: intestinal crypt stem cell (CL0002250)
    Fold Change: 1.91
    Marker Score: 720
  • Cell Name: endocrine cell (CL0000163)
    Fold Change: 1.85
    Marker Score: 959
  • Cell Name: type G enteroendocrine cell (CL0000508)
    Fold Change: 1.85
    Marker Score: 639
  • Cell Name: pancreatic stellate cell (CL0002410)
    Fold Change: 1.75
    Marker Score: 1107
  • Cell Name: epithelial cell of lung (CL0000082)
    Fold Change: 1.53
    Marker Score: 8034
  • Cell Name: paneth cell of epithelium of small intestine (CL1000343)
    Fold Change: 1.46
    Marker Score: 361
  • Cell Name: precursor cell (CL0011115)
    Fold Change: 1.45
    Marker Score: 351
  • Cell Name: papillary tips cell (CL1000597)
    Fold Change: 1.44
    Marker Score: 290
  • Cell Name: hematopoietic stem cell (CL0000037)
    Fold Change: 1.41
    Marker Score: 740
  • Cell Name: epithelial fate stem cell (CL0000036)
    Fold Change: 1.3
    Marker Score: 373
  • Cell Name: P/D1 enteroendocrine cell (CL0002268)
    Fold Change: 1.2
    Marker Score: 449
  • Cell Name: progenitor cell of endocrine pancreas (CL0002351)
    Fold Change: 1.16
    Marker Score: 252
  • Cell Name: type A enteroendocrine cell (CL0002067)
    Fold Change: 1.1
    Marker Score: 444
  • Cell Name: enteroendocrine cell (CL0000164)
    Fold Change: 1.09
    Marker Score: 565
  • Cell Name: large intestine goblet cell (CL1000320)
    Fold Change: 1.09
    Marker Score: 288
  • Cell Name: cerebral cortex GABAergic interneuron (CL0010011)
    Fold Change: 1
    Marker Score: 71787
  • Cell Name: forebrain radial glial cell (CL0013000)
    Fold Change: 1
    Marker Score: 48012
  • Cell Name: kidney collecting duct cell (CL1001225)
    Fold Change: 0.99
    Marker Score: 195
  • Cell Name: IgA plasma cell (CL0000987)
    Fold Change: 0.99
    Marker Score: 846
  • Cell Name: colon goblet cell (CL0009039)
    Fold Change: 0.99
    Marker Score: 716
  • Cell Name: absorptive cell (CL0000212)
    Fold Change: 0.98
    Marker Score: 30406
  • Cell Name: tuft cell of colon (CL0009041)
    Fold Change: 0.97
    Marker Score: 499
  • Cell Name: BEST4+ intestinal epithelial cell, human (CL4030026)
    Fold Change: 0.96
    Marker Score: 453
  • Cell Name: intestinal crypt stem cell of colon (CL0009043)
    Fold Change: 0.95
    Marker Score: 2411
  • Cell Name: intestinal epithelial cell (CL0002563)
    Fold Change: 0.94
    Marker Score: 1533
  • Cell Name: transit amplifying cell (CL0009010)
    Fold Change: 0.94
    Marker Score: 5350
  • Cell Name: abnormal cell (CL0001061)
    Fold Change: 0.91
    Marker Score: 2731
  • Cell Name: type L enteroendocrine cell (CL0002279)
    Fold Change: 0.89
    Marker Score: 244
  • Cell Name: epithelial cell of small intestine (CL0002254)
    Fold Change: 0.88
    Marker Score: 318
  • Cell Name: neoplastic cell (CL0001063)
    Fold Change: 0.87
    Marker Score: 5296
  • Cell Name: immature innate lymphoid cell (CL0001082)
    Fold Change: 0.86
    Marker Score: 1758
  • Cell Name: paneth cell of colon (CL0009009)
    Fold Change: 0.84
    Marker Score: 241
  • Cell Name: pancreatic A cell (CL0000171)
    Fold Change: 0.82
    Marker Score: 798
  • Cell Name: paneth cell (CL0000510)
    Fold Change: 0.81
    Marker Score: 566
  • Cell Name: malignant cell (CL0001064)
    Fold Change: 0.8
    Marker Score: 10692
  • Cell Name: Cajal-Retzius cell (CL0000695)
    Fold Change: 0.75
    Marker Score: 388
  • Cell Name: precursor B cell (CL0000817)
    Fold Change: 0.74
    Marker Score: 492
  • Cell Name: gut absorptive cell (CL0000677)
    Fold Change: 0.73
    Marker Score: 467
  • Cell Name: M cell of gut (CL0000682)
    Fold Change: 0.72
    Marker Score: 186
  • Cell Name: enterocyte of epithelium of small intestine (CL1000334)
    Fold Change: 0.71
    Marker Score: 2975.5
  • Cell Name: brush cell (CL0002204)
    Fold Change: 0.7
    Marker Score: 642
  • Cell Name: small intestine goblet cell (CL1000495)
    Fold Change: 0.68
    Marker Score: 272
  • Cell Name: luminal cell of prostate epithelium (CL0002340)
    Fold Change: 0.68
    Marker Score: 394
  • Cell Name: hepatic stellate cell (CL0000632)
    Fold Change: 0.68
    Marker Score: 255
  • Cell Name: pancreatic D cell (CL0000173)
    Fold Change: 0.67
    Marker Score: 293
  • Cell Name: kidney loop of Henle epithelial cell (CL1000909)
    Fold Change: 0.66
    Marker Score: 416
  • Cell Name: ileal goblet cell (CL1000326)
    Fold Change: 0.63
    Marker Score: 202
  • Cell Name: Kupffer cell (CL0000091)
    Fold Change: 0.63
    Marker Score: 629
  • Cell Name: transit amplifying cell of colon (CL0009011)
    Fold Change: 0.62
    Marker Score: 284
  • Cell Name: type I enteroendocrine cell (CL0002277)
    Fold Change: 0.59
    Marker Score: 148
  • Cell Name: cardiac endothelial cell (CL0010008)
    Fold Change: 0.59
    Marker Score: 1113
  • Cell Name: neuroendocrine cell (CL0000165)
    Fold Change: 0.59
    Marker Score: 228
  • Cell Name: periportal region hepatocyte (CL0019026)
    Fold Change: 0.55
    Marker Score: 2977
  • Cell Name: ionocyte (CL0005006)
    Fold Change: 0.55
    Marker Score: 168
  • Cell Name: intestinal enteroendocrine cell (CL1001516)
    Fold Change: 0.55
    Marker Score: 438
  • Cell Name: mesangial cell (CL0000650)
    Fold Change: 0.54
    Marker Score: 657
  • Cell Name: megakaryocyte-erythroid progenitor cell (CL0000050)
    Fold Change: 0.54
    Marker Score: 224
  • Cell Name: transit amplifying cell of small intestine (CL0009012)
    Fold Change: 0.54
    Marker Score: 222
  • Cell Name: epithelial cell of urethra (CL1000296)
    Fold Change: 0.53
    Marker Score: 417
  • Cell Name: midzonal region hepatocyte (CL0019028)
    Fold Change: 0.53
    Marker Score: 2278
  • Cell Name: renal alpha-intercalated cell (CL0005011)
    Fold Change: 0.52
    Marker Score: 275
  • Cell Name: retinal rod cell (CL0000604)
    Fold Change: 0.51
    Marker Score: 1445
  • Cell Name: kidney collecting duct principal cell (CL1001431)
    Fold Change: 0.47
    Marker Score: 1191
  • Cell Name: cardiac muscle myoblast (CL0000513)
    Fold Change: 0.47
    Marker Score: 7309
  • Cell Name: natural T-regulatory cell (CL0000903)
    Fold Change: 0.46
    Marker Score: 234
  • Cell Name: cerebral cortex endothelial cell (CL1001602)
    Fold Change: 0.45
    Marker Score: 270
  • Cell Name: activated CD8-positive, alpha-beta T cell (CL0000906)
    Fold Change: 0.45
    Marker Score: 325
  • Cell Name: type EC enteroendocrine cell (CL0000577)
    Fold Change: 0.44
    Marker Score: 414
  • Cell Name: plasma cell (CL0000786)
    Fold Change: 0.43
    Marker Score: 476
  • Cell Name: type B pancreatic cell (CL0000169)
    Fold Change: 0.42
    Marker Score: 414
  • Cell Name: parietal cell (CL0000162)
    Fold Change: 0.41
    Marker Score: 115
  • Cell Name: intestinal crypt stem cell of large intestine (CL0009016)
    Fold Change: 0.41
    Marker Score: 122
  • Cell Name: centrilobular region hepatocyte (CL0019029)
    Fold Change: 0.4
    Marker Score: 2564
  • Cell Name: lymphoid lineage restricted progenitor cell (CL0000838)
    Fold Change: 0.4
    Marker Score: 239
  • Cell Name: pancreatic epsilon cell (CL0005019)
    Fold Change: 0.38
    Marker Score: 121
  • Cell Name: glandular epithelial cell (CL0000150)
    Fold Change: 0.38
    Marker Score: 928
  • Cell Name: intestinal tuft cell (CL0019032)
    Fold Change: 0.37
    Marker Score: 115.5
  • Cell Name: goblet cell (CL0000160)
    Fold Change: 0.34
    Marker Score: 2240
  • Cell Name: innate lymphoid cell (CL0001065)
    Fold Change: 0.33
    Marker Score: 119
  • Cell Name: kidney connecting tubule epithelial cell (CL1000768)
    Fold Change: 0.32
    Marker Score: 456

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Other Information

**Key Characteristics** 1. **Serine protease inhibitor**: SPINK1 is a member of the Kazal-type serine protease inhibitor family, which is characterized by its ability to inhibit serine proteases, including trypsin. 2. **Tissue-specific expression**: SPINK1 is highly expressed in epithelial cells of the exocrine pancreas, stomach, and intestine, as well as in stem cells and renal intercalated cells. 3. **Regulation of cell proliferation and differentiation**: SPINK1 is involved in regulating epithelial cell proliferation and differentiation, particularly in the pancreas and intestine. 4. **Calcium ion homeostasis**: SPINK1 plays a crucial role in regulating calcium ion homeostasis, particularly in the pancreas and intestine. 5. **Negative regulation of signaling pathways**: SPINK1 acts as a negative regulator of various signaling pathways, including nitric oxide-mediated signal transduction, peptidyl-tyrosine phosphorylation, and store-operated calcium entry. **Pathways and Functions** 1. **Peptide hormone regulation**: SPINK1 regulates the secretion of peptide hormones, such as cholecystokinin and gastrin, which are involved in digestion and appetite regulation. 2. **Calcium ion homeostasis**: SPINK1 regulates calcium ion homeostasis in the pancreas and intestine, which is essential for proper cellular function and signaling. 3. **Cell proliferation and differentiation**: SPINK1 regulates epithelial cell proliferation and differentiation, particularly in the pancreas and intestine. 4. **Nitric oxide-mediated signal transduction**: SPINK1 acts as a negative regulator of nitric oxide-mediated signal transduction, which is involved in various physiological and pathological processes. 5. **Regulation of acrosome reaction**: SPINK1 regulates the acrosome reaction, which is essential for sperm capacitation and fertilization. **Clinical Significance** 1. **Pancreatic cancer**: SPINK1 is overexpressed in pancreatic cancer and is associated with tumor progression and poor prognosis. 2. **Gastrointestinal disorders**: SPINK1 is involved in regulating gastrointestinal function and is associated with various gastrointestinal disorders, including pancreatitis and gastroesophageal reflux disease. 3. **Neurological disorders**: SPINK1 is involved in regulating calcium ion homeostasis and is associated with various neurological disorders, including Alzheimer's disease and Parkinson's disease. 4. **Renal function**: SPINK1 is involved in regulating calcium ion homeostasis and is associated with various renal disorders, including kidney stones and nephropathy. In conclusion, SPINK1 is a multifunctional gene that plays a crucial role in regulating various physiological and pathological processes. Its dysregulation is associated with various diseases, including pancreatic cancer, gastrointestinal disorders, neurological disorders, and renal function disorders. Further studies are needed to fully understand the role of SPINK1 in human disease and to develop therapeutic strategies for its dysregulation.

Genular Protein ID: 282034276

Symbol: ISK1_HUMAN

Name: Tumor-associated trypsin inhibitor

UniProtKB Accession Codes:

P00995

Database IDs:

AGR 1 AlphaFoldDB 1 Antibodypedia 1 Bgee 1 BioGRID 1 BioGRID-ORCS 1 BioMuta 1 CCDS 1 CDD 1 CTD 1 ChiTaRS 1 DMDM 1 DNASU 1 DisGeNET 1 EMBL 8 Ensembl 1 EvolutionaryTrace 1 ExpressionAtlas 1 GO 17 Gene3D 1 GeneCards 1 GeneReviews 1 GeneTree 1 GeneWiki 1 Genevisible 1 GenomeRNAi 1 HGNC 2 HPA 1 InParanoid 1 IntAct 1 InterPro 3 KEGG 1 MANE-Select 1 MEROPS 1 MIM 5 MINT 1 MalaCards 1 MassIVE 1 MaxQB 1 NCBI Taxonomy 1 OMA 1 OpenTargets 1 Orphanet 3 OrthoDB 1 PANTHER 2 PDB 7 PDBsum 5 PIR 1 PRINTS 1 PRO 1 PROSITE 2 PROSITE-ProRule 1 PathwayCommons 1 PaxDb 1 PeptideAtlas 1 Pfam 1 PharmGKB 1 Pharos 1 PhosphoSitePlus 1 PhylomeDB 1 Proteomes 1 ProteomicsDB 1 RNAct 1 RefSeq 1 SMART 1 SMR 1 STRING 1 SUPFAM 1 SignaLink 1 UCSC 1 UniProtKB 1 VEuPathDB 1 eggNOG 1 iPTMnet 1 jPOST 1 neXtProt 1

Citations:

PubMed ID: 3501289

Title: Primary structure of human pancreatic secretory trypsin inhibitor (PSTI) gene.

PubMed ID: 3501289

DOI: 10.1016/0006-291x(87)90415-3

PubMed ID: 3877508

Title: Molecular cloning and nucleotide sequence of human pancreatic secretory trypsin inhibitor (PSTI) cDNA.

PubMed ID: 3877508

DOI: 10.1016/0006-291x(85)91176-3

PubMed ID: 2961612

Title: Expression of pancreatic secretory trypsin inhibitor gene in neoplastic tissues.

PubMed ID: 2961612

DOI: 10.1016/0014-5793(87)81141-9

PubMed ID: 10835640

Title: Mutations in the gene encoding the serine protease inhibitor, Kazal type 1 are associated with chronic pancreatitis.

PubMed ID: 10835640

DOI: 10.1038/76088

PubMed ID: 15489334

Title: The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).

PubMed ID: 15489334

DOI: 10.1101/gr.2596504

PubMed ID: 843082

Title: The primary structure of the human pancreatic secretory trypsin inhibitor. Amino acid sequence of the reduced S-aminoethylated protein.

PubMed ID: 843082

DOI: 10.1016/0003-9861(77)90103-5

PubMed ID: 7142173

Title: Purification and characterization of a tumor-associated trypsin inhibitor from the urine of a patient with ovarian cancer.

PubMed ID: 7142173

DOI: 10.1016/s0021-9258(18)33505-1

PubMed ID: 1613792

Title: Three-dimensional structure of a recombinant variant of human pancreatic secretory trypsin inhibitor (Kazal type).

PubMed ID: 1613792

DOI: 10.1016/0022-2836(92)90107-u

PubMed ID: 8433367

Title: Solution structure of a variant of human pancreatic secretory trypsin inhibitor determined by nuclear magnetic resonance spectroscopy.

PubMed ID: 8433367

DOI: 10.1006/jmbi.1993.1073

PubMed ID: 10691414

Title: Mutational analysis of the human pancreatic secretory trypsin inhibitor (PSTI) gene in hereditary and sporadic chronic pancreatitis.

PubMed ID: 10691414

DOI: 10.1136/jmg.37.1.67

PubMed ID: 12187509

Title: SPINK1 is a susceptibility gene for fibrocalculous pancreatic diabetes in subjects from the Indian subcontinent.

PubMed ID: 12187509

DOI: 10.1086/342731

PubMed ID: 12011155

Title: Mutations in the pancreatic secretory trypsin inhibitor gene (PSTI/SPINK1) rather than the cationic trypsinogen gene (PRSS1) are significantly associated with tropical calcific pancreatitis.

PubMed ID: 12011155

DOI: 10.1136/jmg.39.5.347

PubMed ID: 12974284

Title: Gene symbol: Spink1-Omim 167790. Disease: hereditary pancreatitis.

PubMed ID: 12974284

DOI: 10.1007/s00439-003-0996-3

PubMed ID: 18617776

Title: The SPINK1 N34S variant is associated with acute pancreatitis.

PubMed ID: 18617776

DOI: 10.1097/meg.0b013e3282f5728c

PubMed ID: 19888199

Title: SPINK1 N34S is strongly associated with recurrent acute pancreatitis but is not a risk factor for the first or sentinel acute pancreatitis event.

PubMed ID: 19888199

DOI: 10.1038/ajg.2009.630

Sequence Information:

  • Length: 79
  • Mass: 8507
  • Checksum: 3583C8196952EB3A
  • Sequence:
    • MKVTGIFLLS ALALLSLSGN TGADSLGREA KCYNELNGCT KIYDPVCGTD GNTYPNECVL 
CFENRKRQTS ILIQKSGPC

Database document:

This is a preview of the gene's schema. Only a few entries are kept for 'singleCellExpressions,' 'mRNAExpressions,' and other large data arrays for visualization purposes. For the full schema, download it here.