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Gene id

6690

Gene Summary Protein Summary Gene ontology KEGG pathways Diseases PubMed references

Gene Summary

Gene Symbol

SPINK1 Gene UCSC Ensembl

Aliases

PCTT, PSTI, Spink3, TATI, TCP

Gene name

serine peptidase inhibitor, Kazal type 1

Alternate names

serine protease inhibitor Kazal-type 1, pancreatic secretory trypsin inhibitor, serine protease inhibitor, Kazal type 1, tumor-associated trypsin inhibitor,

Gene location

5q32 (147839230: 147824579) Exons: 5 NC_000005.10

Gene summary(Entrez)

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]

OMIM

167790

Protein Summary

Protein general information

P00995

Name: Serine protease inhibitor Kazal type 1 (Pancreatic secretory trypsin inhibitor) (Tumor associated trypsin inhibitor) (TATI)

Length: 79 Mass: 8,507

Sequence

MKVTGIFLLSALALLSLSGNTGADSLGREAKCYNELNGCTKIYDPVCGTDGNTYPNECVLCFENRKRQTSILIQK
SGPC

Structural information

Protein Domains	Kazal-like. (26-79)
Interpro:	IPR002350 IPR001239
Prosite:	PS00282 PS51465
Pfam:	PF00050
PDB:	1CGI 1CGJ 1HPT
PDBsum:	1CGI 1CGJ 1HPT
MINT:	1504272
STRING:	ENSP00000296695;

Other Databases

GeneCards: SPINK1; Malacards: SPINK1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0001669	acrosomal vesicle	IBA	cellular_component
GO:0004866	endopeptidase inhibitor a ctivity	TAS	molecular_function
GO:0004867	serine-type endopeptidase inhibitor activity	IBA	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005615	extracellular space	IBA	cellular_component
GO:0010751	negative regulation of ni tric oxide mediated signa l transduction	IEA	biological_process
GO:0050732	negative regulation of pe ptidyl-tyrosine phosphory lation	IEA	biological_process
GO:0060046	regulation of acrosome re action	IBA	biological_process
GO:0070062	extracellular exosome	IDA	cellular_component
GO:0090281	negative regulation of ca lcium ion import	IEA	biological_process
GO:1900004	negative regulation of se rine-type endopeptidase a ctivity	IBA	biological_process
GO:2001256	regulation of store-opera ted calcium entry	IEA	biological_process
GO:0001669	acrosomal vesicle	IBA	cellular_component
GO:0004866	endopeptidase inhibitor a ctivity	TAS	molecular_function
GO:0004867	serine-type endopeptidase inhibitor activity	IEA	molecular_function
GO:0004867	serine-type endopeptidase inhibitor activity	IEA	molecular_function
GO:0004867	serine-type endopeptidase inhibitor activity	IBA	molecular_function
GO:0004867	serine-type endopeptidase inhibitor activity	IEA	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005576	extracellular region	IEA	cellular_component
GO:0005576	extracellular region	IEA	cellular_component
GO:0005615	extracellular space	IEA	cellular_component
GO:0005615	extracellular space	IBA	cellular_component
GO:0010466	negative regulation of pe ptidase activity	IEA	biological_process
GO:0010466	negative regulation of pe ptidase activity	IEA	biological_process
GO:0010751	negative regulation of ni tric oxide mediated signa l transduction	IEA	biological_process
GO:0030414	peptidase inhibitor activ ity	IEA	molecular_function
GO:0030414	peptidase inhibitor activ ity	IEA	molecular_function
GO:0050732	negative regulation of pe ptidyl-tyrosine phosphory lation	IEA	biological_process
GO:0060046	regulation of acrosome re action	IEA	biological_process
GO:0060046	regulation of acrosome re action	IBA	biological_process
GO:0070062	extracellular exosome	IDA	cellular_component
GO:0090281	negative regulation of ca lcium ion import	IEA	biological_process
GO:1900004	negative regulation of se rine-type endopeptidase a ctivity	IEA	biological_process
GO:1900004	negative regulation of se rine-type endopeptidase a ctivity	IBA	biological_process
GO:2001256	regulation of store-opera ted calcium entry	IEA	biological_process
GO:0001669	acrosomal vesicle	IBA	cellular_component
GO:0004866	endopeptidase inhibitor a ctivity	TAS	molecular_function
GO:0004867	serine-type endopeptidase inhibitor activity	IBA	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005615	extracellular space	IBA	cellular_component
GO:0060046	regulation of acrosome re action	IBA	biological_process
GO:0070062	extracellular exosome	IDA	cellular_component
GO:1900004	negative regulation of se rine-type endopeptidase a ctivity	IBA	biological_process

Diseases

Associated diseases	References
Cancer	PMID: 17072959
Celiac disease	PMID: 17333166
Diabetes	OMIM: 167790
Endometriosis	PMID: 8988701
Hyperlipidemia	PMID: 17981921
Hyperparathyroidism	PMID: 18076731
Endometriosis associated infertility	INFBASE8988701
Endometriosis	INFBASE8988701
Pancreatitis	PMID: 12120220
Unexplained infertility	PMID: 1780692

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes	Abstract
8988701	Endometrio sis			368 consecutive patients suffe ring from benig n gynaecologica l diseases (e.g . pelvic pain,i nfertility, ele ctive sterilisa tion, uterine f ibroids and pel vic masses) wit h (n = 71) and without (n = 29 7) endometriosi s	Female infertility		Show abstract