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Category Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21

GIFtS
-

SPINK1 Gene

protein-coding GIFtS: 55
GCID: GC05M147184

serine peptidase inhibitor, Kazal type 1

(Previous names: serine protease inhibitor, Kazal type 1 )

Explore 66 diseases affiliated with
SPINK1 via

MalaCards

our new
Human Malady Compendium

(According to ¹HGNC, ²Entrez Gene,
³UniProtKB/Swiss-Prot, ⁴UniProtKB/TrEMBL, ⁵OMIM, ⁶GeneLoc, ⁷Ensembl, ⁸DME, ⁹miRBase, and/or ¹⁰fRNAdb)
About This Section

Aliases
Serine Peptidase Inhibitor, Kazal Type 1¹ ²		Serine Protease Inhibitor, Kazal Type 1¹ ²
PSTI¹ ² ³ ⁵		Serine Protease Inhibitor Kazal-Type 1² ³
TATI¹ ² ³ ⁵		Tumor-Associated Trypsin Inhibitor² ³
PCTT¹ ² ⁵		TCP²
Spink3¹ ²		Pancreatic Secretory Trypsin Inhibitor²

External Ids:	HGNC: 11244¹	Entrez Gene: 6690²	Ensembl: ENSG00000164266⁷	OMIM: 167790⁵	UniProtKB: P00995³

Export aliases for SPINK1 gene to outside databases

Previous GC identifers: GC05M147236 GC05M147785 GC05M147232 GC05M142351

(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary for SPINK1:

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)

UniProtKB/Swiss-Prot: ISK1_HUMAN, P00995

Function: This is a trypsin inhibitor, its physiological function is to prevent the trypsin-catalyzed premature

activation of zymogens within the pancreas

Gene Wiki entry for SPINK1

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section

RefSeq DNA sequence:

NC_000005.9 NC_018916.1 NT_029289.11

Regulatory elements:

SABiosciences Regulatory transcription factor binding sites in the SPINK1 gene promoter:
COUP-TF1 p300 Brachyury POU3F1 COUP HNF-4alpha2 HNF-3beta HNF-4alpha1 MZF-1 COUP-TF
Other transcription factors

SwitchGear Promoter luciferase reporter plasmid: SPINK1 promoter sequence

Search SABiosciences Chromatin IP Primers for SPINK1

Epigenetics:

QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat SPINK1

Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 5q32 Ensembl cytogenetic band: 5q32 HGNC cytogenetic band: 5q32

SPINK1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
SPINK1 gene location

GeneLoc information about chromosome 5 GeneLoc Exon Structure

GeneLoc location for GC05M147184: view genomic region (about GC identifiers)

Start:	147,204,131 bp from pter	End:	147,211,349 bp from pter
Size:	7,219 bases	Orientation:	minus strand

(According to ¹UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to ²PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section

UniProtKB/Swiss-Prot: ISK1_HUMAN, P00995 (See protein sequence)

Recommended Name: Pancreatic secretory trypsin inhibitor precursor

Size: 79 amino acids; 8507 Da

Subcellular location: Secreted

3 PDB 3D structures from and Proteopedia for SPINK1:

1CGI (3D)

1CGJ (3D)

1HPT (3D)

Explore the universe of human proteins at neXtProt for SPINK1: NX_P00995

SPINK1 Protein expression data from MOPED and PaxDb: About this image

REFSEQ proteins: NP_003113.2

ENSEMBL proteins:

ENSP00000296695 ENSP00000427376

Human Recombinant Protein Products:

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	Novus Biologicals SPINK1 Proteins Novus Biologicals SPINK1 Lysate
	Browse Sino Biological Recombinant Proteins
	Browse ProSpec Recombinant Proteins
	Uscn Proteins for SPINK1

Gene Ontology (GO): 1 cellular component term (GO ID links to tree view): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005576	extracellular region	IEA	--

SPINK1 for ontologies About GeneDecksing

SPINK1 Antibody Products:

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	Uscn ELISAs and CLIAs for SPINK1

(According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
About This Section

SPINK1 for domains About GeneDecksing

2 InterPro domains/families:

IPR002350 Prot_inh_Kazal

IPR001239 Prot_inh_Kazal-m

Graphical View of Domain Structure for InterPro Entry P00995

ProtoNet protein and cluster: P00995

1 Blocks protein family: IPB001239 Kazal-type serine protease inhibitor signature

UniProtKB/Swiss-Prot: ISK1_HUMAN, P00995

Similarity: Contains 1 Kazal-like domain

(According to ¹UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or ²DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
bound targets from SABiosciences, miRNA Gene Targets from miRTarBase shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
About This Section

Function Summary:

UniProtKB/Swiss-Prot: ISK1_HUMAN, P00995

Function: This is a trypsin inhibitor, its physiological function is to prevent the trypsin-catalyzed premature

activation of zymogens within the pancreas

Genatlas biochemistry entry for SPINK1:

serine protease inhibitor,Kazal type 1,unlikely to be involved in hereditary and sporadic pancreatitis

miRNA Products:		Browse 3'-UTR reporter clones for miRNA target validation Browse MicroRNA Expression Plasmids
		QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat SPINK1
		1 QIAGEN miScript miRNA Assays for microRNA that regulate SPINK1:
		hsa-miR-4272
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Inhib. RNA Products:		Browse for Gene Knock-down Tools from EMD Millipore
		OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for SPINK1 (see all 7) OriGene shRNA RFP: SPINK1 OriGene siRNA: SPINK1
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Gene Editing
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DNA2.0 Custom Protein Engineering Service for SPINK1

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Cell Line Products:		GenScript Custom overexpressing Cell Line Services for SPINK1
		Search LifeMap BioReagents cell lines for SPINK1

In Situ Assay
Products:

Search Advanced Cell Diagnostics for RNAscope RNA in situ hybridization assays for SPINK1

Gene Ontology (GO): 3 molecular function terms (GO ID links to tree view): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0004866	endopeptidase inhibitor activity	TAS	7142173
GO:0004867	serine-type endopeptidase inhibitor activity	IEA	--
GO:0005515	protein binding	IPI	14507909

SPINK1 for ontologies           About GeneDecksing

Animal Models:
     Mouse knock-out Spink3^tm1Kymm for SPINK1
     8 MGI mutant phenotypes (inferred from 2 alleles) (MGI details for Spink3):

digestive/alimentary	endocrine/exocrine gland	growth/size	hematopoietic system	homeostasis/metabolism
immune system	integument	mortality/aging

SPINK1 for phenotypes About GeneDecksing

(Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to ¹UniProtKB, ²MINT, ³I2D, and/or ⁴STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene).
About This Section

Interactions:

SABiosciences Gene Network Central^TM Interacting Genes and Proteins Network for SPINK1

STRING Interaction Network Preview (showing 4 interactants - click image to see more details)

5 Interacting proteins for SPINK1 (P00995^{2, 3} ENSP00000296695⁴) via UniProtKB, MINT, STRING, and/or I2D

Interactant		Interaction Details
GeneCard	External ID(s)	Interaction Details
CTRC	Q99895³, ENSP00000365116⁴	I2D: score=2 STRING: ENSP00000365116
ELN	P15502³, ENSP00000252034⁴	I2D: score=2 STRING: ENSP00000252034
NRSN1	Q8IZ57³, ENSP00000367752⁴	I2D: score=1 STRING: ENSP00000367752
TMPRSS15	P98073³, ENSP00000284885⁴	I2D: score=1 STRING: ENSP00000284885
--	P00766²	MINT-25044

About this table

Gene Ontology (GO): 1 biological process term (GO ID links to tree view): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0010951	negative regulation of endopeptidase activity	TAS	7142173

SPINK1 for ontologies About GeneDecksing

(Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
About This Section

SPINK1 for compounds About GeneDecksing

Browse Small Molecules at EMD Millipore

Browse drugs & compounds from Enzo Life Sciences

Browse Tocris compounds for SPINK1
5 Novoseek chemical compound relationships for SPINK1 gene About this table

Compound	-log (P-Val)	Hits	PubMed IDs for Articles with Shared Sentences (# sentences)
trypsinogen	94.4	64	16327984 (5), 11938439 (2), 12529713 (2), 12939655 (2) (see all 39)
serine	67.5	109	1669448 (3), 7510795 (3), 19737965 (2), 15980664 (2) (see all 57)
creatinine	4.47	12	14633748 (3), 9453997 (2), 14733412 (2), 11499560 (1) (see all 7)
calcium	0	3	16497624 (1), 14641934 (1), 12483248 (1)
fluoride	0	3	14633748 (1), 16923094 (1)

Search CenterWatch for drugs/clinical trials and news about SPINK1 / ISK1

(Secondary structures according to fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 235 Homo sapiens; Mar 10 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
RNAi Products from EMD Millipore,
siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
About This Section

REFSEQ mRNAs for SPINK1 gene:

NM_003122.3

Unigene Cluster for SPINK1:

Serine peptidase inhibitor, Kazal type 1

Hs.407856 [show with all ESTs]

Unigene Representative Sequence: AA652500

3 Ensembl transcripts including schematic representations, and UCSC links where relevant:

ENST00000296695(uc003los.2) ENST00000505722 ENST00000510027

miRNA Products:		Browse 3'-UTR reporter clones for miRNA target validation Browse OriGene MicroRNA Expression Plasmids
		QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat SPINK1
		1 QIAGEN miScript miRNA Assays for microRNA that regulate SPINK1:
		hsa-miR-4272
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Inhib. RNA Products:		Browse for Gene Knock-down Tools from EMD Millipore
		OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for SPINK1 (see all 7) OriGene shRNA RFP: SPINK1 OriGene siRNA: SPINK1
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		QIAGEN QuantiFast Probe-based Assays in human, mouse, rat SPINK1

Additional cDNA sequence:

BC025790.1 Y00705.1

4 DOTS entries:

DT.412800 DT.100650810 DT.100646430 DT.427385

24/91 AceView cDNA sequences (see all 91):

AI362470 NM_003122 BM843311 AA845156 BM855672 AA436233 AI362622 CB159576

BU581519 BU581710 BC025790 BM843236 CK905024 BG141336 Y00705 AA835382

AA569123 BX497081 AW005713 AA612829 BM855825 BX115935 BM090732 NM_206966

GeneLoc Exon Structure

(RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
About This Section

SPINK1 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: AAGGTAACAG

About this image

SPINK1 expression in embryonic tissues and stem cells

Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine About this table

3 LifeMap In Vivo Development Anatomical Compartments/Cells

Tissue

Anatomical Compartment

Cell

Category (developmental path)

Extraembryonic Mesoderm

Extraembryonic Capillary Plexus

Extraembryonic Angioblasts

Endothelium

Heart

Atrioventricular Canal

Atrioventricular Canal Cells

Myocardium

Pancreas

Islets of Langerhans

Mature Beta Cells

Pancreas

Expression:

Positive

Negative

Selective marker

Experimental details:

Curated

Microarrays

In-situ hybridization

Stem Cell Differentiation: 2 LifeMap Cells

Name

Category

PureStem™ myogenic progenitor Z11 (Embryonic Progenitor Cell)

Heart, Myocardium, Smooth Muscle

Extraembryonic endoderm-like cells (Generation of extrae...)

See SPINK1 Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for SPINK1

SOURCE GeneReport for Unigene cluster: Hs.407856

SABiosciences Expression via Pathway-Focused PCR Array including SPINK1:

Lung Cancer in human mouse rat

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In Situ
Assay Products:

Search Advanced Cell Diagnostics for RNAscope RNA in situ hybridization assays for SPINK1

(Orthologs according to ^1,2HomoloGene (²older version, for species not in ¹newer version), ³euGenes, ⁴SGD , ⁵MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or ⁶Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
About This Section

This gene was present in the common ancestor of chordates.

Orthologs for SPINK1 gene from 2/8 species (see all 8) About this table

Organism	Taxonomic classification	Gene	Description	Human Similarity	Orthology Type	Details
mouse (Mus musculus)	Mammalia	Spink3^{1 , 5}	serine peptidase inhibitor, Kazal type 3^{1, 5}	74.26(n)¹ 69.62(a)¹		18 (23.47 cM)⁵ 20730¹ NM_009258.5¹ NP_033284.1¹ 43728069⁵
chicken (Gallus gallus)	Aves	SPINK1⁶	Uncharacterized protein	43(a)	1 ↔ 1	13(10552712-10555289)

ENSEMBL Gene Tree for SPINK1 (if available)
TreeFam Gene Tree for SPINK1 (if available)

(Paralogs according to ¹HomoloGene,
²Ensembl, and ³SIMAP, Pseudogenes according to ⁴Pseudogene.org Build 68)
About This Section

(SNPs/Variants according to the ¹NCBI SNP Database, ²Ensembl, ³PupaSUITE, UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
About This Section

SNP ID	Valid	Clinical significance	Chr 5 pos	Sequence	#	AA Chg	Type	More	#	Allele freq	Pop	Total sample	More
Genomic Data					Transcription Related Data				Allele Frequencies
				--	--	--		--	--
rs111966833^1,2	C,F,	non-pathogenic	158209729(+)	`ATTGGA/C/GATAAG`	3	P A S	mis¹		3		CSA NA EU	5856
rs104893938^1,2	C	pathogenic	158206207(-)	`AGCCAC/TGAAGG`	2	T M	mis¹		0	--	--	--	--
rs104893939^1,2	C	pathogenic	158206246(-)	`GGCCCC/G/TGTTGA`	3	P R L	mis¹		0	--	--	--	--
rs17107315^1,2	C,F,H,	pathogenic	158209667(-)	`TTACAA/GTGAAC`	2	N S	mis¹ ese³		13		NA NS EA EU	7121
rs35877720^1,2	C,F,	probable-non-pathogenic	158206241(-)	`GCCTTG/CGCCCT`	2	/F /L	mis¹		5		NA WA EU	6057
rs141634296^1,2	C,F	unknown	158209760(+)	`CTCACC/TGATTT`	2	Q R	mis¹		2		NA EU	5673
rs4151639^1,2	C,	--	142351244(-)	`CCAGGG/ATCAGG`	1	--	ds500¹		1		NA	2
rs113677347^1,2	C	--	142351294(+)	`CAACAC/G/TGGGAT`	2	--	ut3¹		1		CSA	1
rs112657606^1,2	C	--	142351295(+)	`AACAGC/G/TGGATA`	2	--	ut3¹		1		CSA	1
rs113527737^1,2	C,	--	142351324(+)	`ACAATA/GAGGCC`	1	--	ut3¹		2		CSA WA	120

HapMap Linkage Disequilibrium report for SPINK1 (147204131 - 147211349 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV) variations for SPINK1: --
Human Gene Mutation Database (HGMD): SPINK1

Locus Specific Mutation Databases (LSDB): SPINK1

SABiosciences Cancer Mutation PCR Assays

QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing SPINK1

DNA2.0 Custom Variant and Variant Library Synthesis for SPINK1

(in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
About This Section

SPINK1 for disorders           About GeneDecksing

OMIM gene information: 167790
OMIM disorders: 167800  608189
UniProtKB/Swiss-Prot: ISK1_HUMAN, P00995

Defects in SPINK1 are a cause of pancreatitis (PCTT) [MIM:167800]. A disease characterized by the presence of

calculi in pancreatic ducts. It causes severe abdominal pain attacks

Defects in SPINK1 are the cause of susceptibility to tropical calcific pancreatitis (TCP) [MIM:608189]. TCP is

an idiopathic, juvenile, nonalcoholic form of chronic pancreatitis widely prevalent in several tropical countries. It

can be associated with fibrocalculous pancreatic diabetes (FCPD) depending on both environmental and genetic factors.

TCP differs from alcoholic pancreatitis by a much younger age of onset, pancreatic calcification, a high incidence of

insulin dependent but ketosis resistant diabetes mellitus, and an exceptionally high incidence of pancreatic cancer

20/66 diseases for SPINK1 (see all 66): About MalaCards

pancreatitis tropical calcific pancreatitis hereditary pancreatitis fibrocalculous pancreatic diabetes

intestinal pseudo-obstruction familial adenomatous polyposis parotitis type 2 diabetes mellitus

lactic acidosis biliary tract disease diabetes mellitus ovarian cyst

urinary bladder cancer citrullinemia fatty liver disease netherton syndrome

cystic fibrosis hypercalcemia celiac disease carcinoma

4 diseases from the University of Copenhagen DISEASES database for SPINK1:

Pancreatitis Pancreatic cancer Cystic fibrosis Primary hyperparathyroidism

10/55 Novoseek disease relationships for SPINK1 gene (see all 55) About this table

Disease	-log (P-Val)	Hits	PubMed IDs for Articles with Shared Sentences (# sentences)
pancreatitis hereditary	92.6	14	17274009 (2), 15084977 (2), 17613931 (1), 19106771 (1) (see all 10)
chronic pancreatitis	91.4	145	11578065 (5), 11950817 (4), 14641934 (4), 18978175 (3) (see all 77)
pancreatitis	86.9	105	12560856 (4), 18076731 (4), 10982753 (3), 12743777 (3) (see all 50)
acute recurrent pancreatitis	83.3	4	19844201 (1), 19593166 (1), 20335783 (1)
pancreatitis alcoholic	77.9	4	18182741 (2), 18336667 (1), 12822871 (1)
acute pancreatitis	67.5	14	15782101 (2), 15238770 (2), 17625278 (1), 19844201 (1) (see all 9)
pancreatic diseases	66.9	9	1791319 (2), 15238770 (1), 1780691 (1), 12120202 (1) (see all 7)
pancreatic cancer	66.3	33	19737965 (4), 8207049 (4), 15084977 (4), 12649567 (3) (see all 13)
cystic fibrosis	63.9	43	11938439 (2), 12939655 (2), 1886891 (1), 15758663 (1) (see all 27)
pancreas divisum	61.2	6	19593166 (3), 17625278 (1)

Genetic Association Database (GAD): SPINK1
Human Genome Epidemiology (HuGE) Navigator: SPINK1 (71 documents)

Export disorders for SPINK1 gene to outside databases

(in PubMed. Associations of this gene to articles via ¹Entrez Gene, ²UniProtKB/Swiss-Prot, ³HGNC, ⁴GAD, ⁵PharmGKB, ⁶HMDB, ⁷DrugBank, ⁸UniProtKB/TrEMBL, ⁹ Novoseek, and/or ¹⁰fRNAdb)
About This Section

PubMed articles for SPINK1 gene, integrated from 9 sources (see all 306):
(articles sorted by number of sources associating them with SPINK1)

Utopia: connect your pdf to the dynamic
world of online information

Mutations in the gene encoding the serine protease inhibitor, Kazal type 1 are associated with chronic pancreatitis. (PubMed id 10835640)^{1, 2, 4, 9} Witt H.... Becker M. (2000)
SPINK1 is a susceptibility gene for fibrocalculous pancreatic diabetes in subjects from the Indian subcontinent. (PubMed id 12187509)^{1, 2, 4} Hassan Z.... Hitman G.A. (2002)
[Mutations of SPINK1 and PRSS1 gene in Korean patients with chronic pancreatitis] (PubMed id 15329520)^{1, 4, 9} Lee K.H....Kim C.Y. (2004)
Mutations in the serine protease inhibitor Kazal Type 1 (SPINK1) gene in Japanese patients with pancreatitis. (PubMed id 15980664)^{1, 4, 9} Kume K....Shimosegawa T. (2005)
The role of CFTR and SPINK-1 mutations in pancreatic disorders in HIV-positive patients: a case-control study. (PubMed id 15238770)^{1, 4, 9} Felley C....Frossard J.L. (2004)
Mutations in serine protease inhibitor Kazal type 1 are strongly associated with chronic pancreatitis. (PubMed id 11950817)^{1, 4, 9} Drenth J.P....Jansen J.B. (2002)
Absence of PRSS1 mutations and association of SPINK1 trypsin inhibitor mutations in hereditary and non-hereditary chronic pancreatitis. (PubMed id 15082592)^{1, 4, 9} Chandak G.R....Singh L. (2004)
Mutations in the SPINK1 gene in idiopathic pancreatitis Italian patients. (PubMed id 12825076)^{1, 4, 9} Gomez-Lira M....Pignatti P.F. (2003)
Two novel severe mutations in the pancreatic secretory trypsin inhibitor gene (SPINK1) cause familial and/or hereditary pancreatitis. (PubMed id 14722925)^{1, 4, 9} Le Marechal C....Ferec C. (2004)
CFTR, PRSS1 and SPINK1 mutations in the development of pancreatitis in Brazilian patients. (PubMed id 14526128)^{1, 4, 9} Bernardino A.L....Zatz M. (2003)

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		AND	OR
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(According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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Entrez Gene: 6690	HGNC: 11244	AceView: SPINK1andMGC23985	Ensembl:ENSG00000164266	euGenes: HUgn6690
ECgene: SPINK1	H-InvDB: SPINK1

(According to HUGE)
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(According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
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Name	Description
PharmGKB entry for SPINK1	Pharmacogenomics, SNPs, Pathways
ATLAS Chromosomes in Cancer entry for SPINK1	Genetics and Cytogenetics in Oncology and Haematology
GeneReviews	http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/SPINK1

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SPINK1 Gene

serine peptidase inhibitor, Kazal type 1

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