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 peptidase activity
    (GO:0010466)
  • 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)

(Cell Significance Index and respective Thresholds are uniquely calculated using our advanced thresholding algorithms to reveal cell-specific gene markers)

  • Cell Name: ileal goblet cell (CL1000326)
    Fold Change: 40.4458
    Cell Significance Index: -27.1400
  • Cell Name: precursor cell (CL0011115)
    Fold Change: 28.8566
    Cell Significance Index: 218.8200
  • Cell Name: ciliated cell of the bronchus (CL0002332)
    Fold Change: 23.9541
    Cell Significance Index: -22.8700
  • Cell Name: umbrella cell of urothelium (CL4030056)
    Fold Change: 18.4326
    Cell Significance Index: 169.7400
  • Cell Name: pancreatic acinar cell (CL0002064)
    Fold Change: 15.6937
    Cell Significance Index: 2679.7800
  • Cell Name: pancreatic endocrine cell (CL0008024)
    Fold Change: 12.5906
    Cell Significance Index: 1437.2100
  • Cell Name: CD8-alpha-beta-positive, alpha-beta intraepithelial T cell (CL0000796)
    Fold Change: 12.0536
    Cell Significance Index: -32.2900
  • Cell Name: columnar/cuboidal epithelial cell (CL0000075)
    Fold Change: 11.1139
    Cell Significance Index: 42.5600
  • Cell Name: bladder urothelial cell (CL1001428)
    Fold Change: 10.4221
    Cell Significance Index: 541.4000
  • Cell Name: intermediate cell of urothelium (CL4030055)
    Fold Change: 7.3632
    Cell Significance Index: 1327.3500
  • Cell Name: gut absorptive cell (CL0000677)
    Fold Change: 6.6725
    Cell Significance Index: 400.5800
  • Cell Name: enterocyte of epithelium of large intestine (CL0002071)
    Fold Change: 4.9152
    Cell Significance Index: 222.7900
  • Cell Name: tuft cell of colon (CL0009041)
    Fold Change: 4.5896
    Cell Significance Index: 4144.0800
  • Cell Name: enterocyte of epithelium of small intestine (CL1000334)
    Fold Change: 4.0466
    Cell Significance Index: 116.5900
  • Cell Name: tuft cell of small intestine (CL0009080)
    Fold Change: 3.6435
    Cell Significance Index: 36.7600
  • Cell Name: colon goblet cell (CL0009039)
    Fold Change: 3.3858
    Cell Significance Index: 334.9300
  • Cell Name: basal cell of urothelium (CL1000486)
    Fold Change: 3.3053
    Cell Significance Index: 406.4200
  • Cell Name: neoplastic cell (CL0001063)
    Fold Change: 2.8736
    Cell Significance Index: 570.2700
  • Cell Name: intestinal crypt stem cell of colon (CL0009043)
    Fold Change: 1.8397
    Cell Significance Index: 200.1000
  • Cell Name: epithelial cell of small intestine (CL0002254)
    Fold Change: 1.8353
    Cell Significance Index: 298.4900
  • Cell Name: microfold cell of epithelium of small intestine (CL1000353)
    Fold Change: 1.8113
    Cell Significance Index: 125.2600
  • Cell Name: paneth cell of colon (CL0009009)
    Fold Change: 1.7198
    Cell Significance Index: 25.7700
  • Cell Name: intestinal epithelial cell (CL0002563)
    Fold Change: 1.0863
    Cell Significance Index: 11.2500
  • Cell Name: enteroendocrine cell of colon (CL0009042)
    Fold Change: 0.6778
    Cell Significance Index: 128.9800
  • Cell Name: intestinal crypt stem cell of small intestine (CL0009017)
    Fold Change: 0.5876
    Cell Significance Index: 12.5200
  • Cell Name: transit amplifying cell of colon (CL0009011)
    Fold Change: 0.5504
    Cell Significance Index: 17.6300
  • Cell Name: abnormal cell (CL0001061)
    Fold Change: 0.5063
    Cell Significance Index: 51.7200
  • Cell Name: large intestine goblet cell (CL1000320)
    Fold Change: 0.4793
    Cell Significance Index: 5.2000
  • Cell Name: pancreatic A cell (CL0000171)
    Fold Change: 0.2306
    Cell Significance Index: 170.8300
  • Cell Name: taste receptor cell (CL0000209)
    Fold Change: 0.2078
    Cell Significance Index: 2.4200
  • Cell Name: stem cell (CL0000034)
    Fold Change: 0.0881
    Cell Significance Index: 0.6400
  • Cell Name: enterocyte (CL0000584)
    Fold Change: 0.0081
    Cell Significance Index: 0.0500
  • Cell Name: pancreatic PP cell (CL0002275)
    Fold Change: -0.0032
    Cell Significance Index: -2.0100
  • Cell Name: neuron associated cell (CL0000095)
    Fold Change: -0.0097
    Cell Significance Index: -0.4000
  • Cell Name: pigmented epithelial cell (CL0000529)
    Fold Change: -0.0161
    Cell Significance Index: -30.4000
  • Cell Name: type B pancreatic cell (CL0000169)
    Fold Change: -0.0207
    Cell Significance Index: -11.6600
  • Cell Name: anterior lens cell (CL0002223)
    Fold Change: -0.0267
    Cell Significance Index: -49.2300
  • Cell Name: cell in vitro (CL0001034)
    Fold Change: -0.0277
    Cell Significance Index: -15.1200
  • Cell Name: pancreatic D cell (CL0000173)
    Fold Change: -0.0293
    Cell Significance Index: -6.1800
  • Cell Name: skeletal muscle fiber (CL0008002)
    Fold Change: -0.0295
    Cell Significance Index: -0.7600
  • Cell Name: basal epithelial cell of tracheobronchial tree (CL0002329)
    Fold Change: -0.0297
    Cell Significance Index: -0.8300
  • Cell Name: hair follicular keratinocyte (CL2000092)
    Fold Change: -0.0311
    Cell Significance Index: -13.7400
  • Cell Name: lens epithelial cell (CL0002224)
    Fold Change: -0.0317
    Cell Significance Index: -48.8000
  • Cell Name: pulmonary alveolar epithelial cell (CL0000322)
    Fold Change: -0.0331
    Cell Significance Index: -25.0700
  • Cell Name: secondary lens fiber (CL0002225)
    Fold Change: -0.0361
    Cell Significance Index: -49.0200
  • Cell Name: enteroendocrine cell of small intestine (CL0009006)
    Fold Change: -0.0380
    Cell Significance Index: -0.9500
  • Cell Name: kidney loop of Henle cortical thick ascending limb epithelial cell (CL1001109)
    Fold Change: -0.0389
    Cell Significance Index: -28.5500
  • Cell Name: non-pigmented ciliary epithelial cell (CL0002304)
    Fold Change: -0.0452
    Cell Significance Index: -28.7300
  • Cell Name: pancreatic ductal cell (CL0002079)
    Fold Change: -0.0470
    Cell Significance Index: -5.3900
  • Cell Name: L2/3-6 intratelencephalic projecting glutamatergic neuron (CL4023040)
    Fold Change: -0.0526
    Cell Significance Index: -10.5500
  • Cell Name: epithelial cell of stomach (CL0002178)
    Fold Change: -0.0662
    Cell Significance Index: -7.7100
  • Cell Name: ciliary muscle cell (CL1000443)
    Fold Change: -0.0803
    Cell Significance Index: -36.4500
  • Cell Name: BEST4+ enteroycte (CL4030026)
    Fold Change: -0.0883
    Cell Significance Index: -1.3300
  • Cell Name: mucous neck cell (CL0000651)
    Fold Change: -0.1050
    Cell Significance Index: -0.5000
  • Cell Name: skeletal muscle fibroblast (CL0011027)
    Fold Change: -0.1194
    Cell Significance Index: -0.8100
  • Cell Name: dopaminergic neuron (CL0000700)
    Fold Change: -0.1279
    Cell Significance Index: -36.8000
  • Cell Name: foveolar cell of stomach (CL0002179)
    Fold Change: -0.1411
    Cell Significance Index: -0.9200
  • Cell Name: eukaryotic cell (CL0000255)
    Fold Change: -0.1736
    Cell Significance Index: -7.5500
  • Cell Name: pancreatic epsilon cell (CL0005019)
    Fold Change: -0.1943
    Cell Significance Index: -1.8000
  • Cell Name: pigmented ciliary epithelial cell (CL0002303)
    Fold Change: -0.1966
    Cell Significance Index: -28.5800
  • Cell Name: paneth cell of epithelium of small intestine (CL1000343)
    Fold Change: -0.2132
    Cell Significance Index: -4.6200
  • Cell Name: stromal cell of ovary (CL0002132)
    Fold Change: -0.2562
    Cell Significance Index: -35.1800
  • Cell Name: epithelial cell (CL0000066)
    Fold Change: -0.2631
    Cell Significance Index: -2.7800
  • Cell Name: transit amplifying cell of small intestine (CL0009012)
    Fold Change: -0.2757
    Cell Significance Index: -5.7200
  • Cell Name: progenitor cell of mammary luminal epithelium (CL0009116)
    Fold Change: -0.3036
    Cell Significance Index: -22.6300
  • Cell Name: small intestine goblet cell (CL1000495)
    Fold Change: -0.3108
    Cell Significance Index: -10.9200
  • Cell Name: epidermal cell (CL0000362)
    Fold Change: -0.3194
    Cell Significance Index: -0.7200
  • Cell Name: lactocyte (CL0002325)
    Fold Change: -0.3256
    Cell Significance Index: -42.0600
  • Cell Name: kidney epithelial cell (CL0002518)
    Fold Change: -0.3290
    Cell Significance Index: -9.6900
  • Cell Name: sebaceous gland cell (CL2000021)
    Fold Change: -0.3656
    Cell Significance Index: -0.4700
  • Cell Name: kidney loop of Henle descending limb epithelial cell (CL1001021)
    Fold Change: -0.3745
    Cell Significance Index: -29.6600
  • Cell Name: fibroblast of dermis (CL0002551)
    Fold Change: -0.4128
    Cell Significance Index: -8.6400
  • Cell Name: hippocampal granule cell (CL0001033)
    Fold Change: -0.4158
    Cell Significance Index: -27.9600
  • Cell Name: lung endothelial cell (CL1001567)
    Fold Change: -0.4339
    Cell Significance Index: -22.6000
  • Cell Name: fallopian tube secretory epithelial cell (CL4030006)
    Fold Change: -0.4544
    Cell Significance Index: -7.0300
  • Cell Name: goblet cell (CL0000160)
    Fold Change: -0.4544
    Cell Significance Index: -4.1100
  • Cell Name: cardiac muscle myoblast (CL0000513)
    Fold Change: -0.4590
    Cell Significance Index: -35.2200
  • Cell Name: intestinal tuft cell (CL0019032)
    Fold Change: -0.4684
    Cell Significance Index: -28.7200
  • Cell Name: epithelial cell of pancreas (CL0000083)
    Fold Change: -0.4934
    Cell Significance Index: -8.1300
  • Cell Name: intestinal crypt stem cell (CL0002250)
    Fold Change: -0.4974
    Cell Significance Index: -3.5000
  • Cell Name: intrahepatic cholangiocyte (CL0002538)
    Fold Change: -0.4992
    Cell Significance Index: -1.8800
  • Cell Name: contractile cell (CL0000183)
    Fold Change: -0.5087
    Cell Significance Index: -0.9800
  • Cell Name: L5 extratelencephalic projecting glutamatergic cortical neuron (CL4023041)
    Fold Change: -0.5885
    Cell Significance Index: -20.6200
  • Cell Name: plasmablast (CL0000980)
    Fold Change: -0.6379
    Cell Significance Index: -5.9200
  • Cell Name: forebrain neuroblast (CL1000042)
    Fold Change: -0.6588
    Cell Significance Index: -40.4900
  • Cell Name: retinal progenitor cell (CL0002672)
    Fold Change: -0.6779
    Cell Significance Index: -38.0400
  • Cell Name: luminal adaptive secretory precursor cell of mammary gland (CL4033057)
    Fold Change: -0.7471
    Cell Significance Index: -35.1200
  • Cell Name: myoepithelial cell (CL0000185)
    Fold Change: -0.7590
    Cell Significance Index: -8.6100
  • Cell Name: corticothalamic-projecting glutamatergic cortical neuron (CL4023013)
    Fold Change: -0.7686
    Cell Significance Index: -24.4800
  • Cell Name: skeletal muscle myoblast (CL0000515)
    Fold Change: -0.7948
    Cell Significance Index: -8.6400
  • Cell Name: placental villous trophoblast (CL2000060)
    Fold Change: -0.7981
    Cell Significance Index: -21.3100
  • Cell Name: colonocyte (CL1000347)
    Fold Change: -0.8220
    Cell Significance Index: -5.0800
  • Cell Name: mesenchymal cell (CL0008019)
    Fold Change: -0.8297
    Cell Significance Index: -13.8900
  • Cell Name: L6b glutamatergic cortical neuron (CL4023038)
    Fold Change: -0.8311
    Cell Significance Index: -27.2100
  • Cell Name: indirect pathway medium spiny neuron (CL4023029)
    Fold Change: -0.8541
    Cell Significance Index: -37.7800
  • Cell Name: cortical cell of adrenal gland (CL0002097)
    Fold Change: -0.8746
    Cell Significance Index: -23.4400
  • Cell Name: mesonephric nephron tubule epithelial cell (CL1000022)
    Fold Change: -0.8878
    Cell Significance Index: -30.8500
  • Cell Name: epithelial cell of sweat gland (CL1000448)
    Fold Change: -0.9311
    Cell Significance Index: -0.6700
  • Cell Name: acinar cell of salivary gland (CL0002623)
    Fold Change: -0.9456
    Cell Significance Index: -44.0900
  • Cell Name: periportal region hepatocyte (CL0019026)
    Fold Change: -0.9614
    Cell Significance Index: -14.1900

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this specific cell.

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this cell type. Calculated using techniques like effect size estimation and bootstrapping for reliability.

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this cell type. Calculated using techniques like effect size estimation and bootstrapping for reliability.

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 GenomeRNAi 1 HGNC 1 HPA 1 InParanoid 1 IntAct 1 InterPro 3 KEGG 1 MANE-Select 1 MEROPS 1 MIM 5 MINT 1 MalaCards 1 MassIVE 1 NCBI Taxonomy 1 OMA 1 OpenTargets 1 Orphanet 2 OrthoDB 1 PANTHER 2 PDB 5 PDBsum 5 PIR 1 PRINTS 1 PRO 1 PROSITE 2 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 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. You can zoom in with the mouse wheel for a closer view, and the text will adjust automatically if necessary. For the full schema, download it here.