ENSG00000164266


Homo sapiens

Features
Gene ID: ENSG00000164266
  
Biological name :SPINK1
  
Synonyms : P00995 / serine peptidase inhibitor, Kazal type 1 / SPINK1
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: 5
Strand: -1
Band: q32
Gene start: 147824568
Gene end: 147831786
  
Corresponding Affymetrix probe sets: 206239_s_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000296695
Ensembl peptide - ENSP00000427376
NCBI entrez gene - 6690     See in Manteia.
OMIM - 167790
RefSeq - NM_003122
RefSeq Peptide - NP_001341895
RefSeq Peptide - NP_003113
swissprot - D6RIU5
swissprot - P00995
Ensembl - ENSG00000164266
  
Related genetic diseases (OMIM): 167800 - Pancreatitis, hereditary, 167800
  608189 - Tropical calcific pancreatitis, 608189
See expression report in BioGPS
See gene description in Wikigenes
See gene description in GeneCards
See co-cited genes in PubMed


Ortholog prediction (from Ensembl)
Ortholog nameID Species
 si:dkey-203a12.9ENSDARG00000104721Danio rerio
 P09036ENSMUSG00000024503Mus musculus


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
No match


Protein motifs (from Interpro)
Interpro ID Name
 IPR001239  Proteinase inhibitor I1, Kazal-type, metazoa
 IPR002350  Kazal domain
 IPR036058  Kazal domain superfamily


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0010466 negative regulation of peptidase activity IEA
 biological_processGO:0010751 negative regulation of nitric oxide mediated signal transduction IEA
 biological_processGO:0010951 negative regulation of endopeptidase activity IEA
 biological_processGO:0048240 sperm capacitation IEA
 biological_processGO:0050732 negative regulation of peptidyl-tyrosine phosphorylation IEA
 biological_processGO:0060046 regulation of acrosome reaction IEA
 biological_processGO:0090281 negative regulation of calcium ion import IEA
 biological_processGO:1900004 negative regulation of serine-type endopeptidase activity IEA
 biological_processGO:2001256 regulation of store-operated calcium entry IEA
 cellular_componentGO:0001669 acrosomal vesicle IBA
 cellular_componentGO:0005576 extracellular region IEA
 cellular_componentGO:0005615 extracellular space IEA
 cellular_componentGO:0070062 extracellular exosome HDA
 molecular_functionGO:0004866 endopeptidase inhibitor activity TAS
 molecular_functionGO:0004867 serine-type endopeptidase inhibitor activity IEA
 molecular_functionGO:0005515 protein binding IEA
 molecular_functionGO:0030414 peptidase inhibitor activity IEA


Pathways (from Reactome)
Pathway description
No match


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
 HP:0000006 Autosomal dominant inheritance "A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele." [HPO:curators]
Show

 HP:0000007 Autosomal recessive inheritance "A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in homozygotes. In the context of medical genetics, autosomal recessive disorders manifest in homozygotes (with two copies of the mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele)." [HPO:curators]
Show

 HP:0000819 Diabetes mellitus 
Show

 HP:0000952 Jaundice "Yellow pigmentation of the skin or sclera due to bilirubin, which in turn is the result of increased bilirubin concentration in the bloodstream." [HPO:curators]
Show

 HP:0001733 Pancreatitis 
Show

 HP:0001738 Exocrine pancreatic insufficiency 
Show

 HP:0001945 Fever 
Show

 HP:0001974 Leukocytosis "An abnormal increase in the number of `leukocytes` (CL:0000738) in the `blood` (FMA:9670)." [HPO:probinson]
Show

 HP:0001977 Thrombosis 
Show

 HP:0002027 Abdominal pain 
Show

 HP:0002202 Pleural effusion "The presence of an excessive amount of fluid in the pleural cavity." [HPO:curators]
Show

 HP:0002570 Steatorrhea 
Show

 HP:0002894 Pancreatic cancer 
Show

 HP:0005206 Pancreatic pseudocysts 
Show

 HP:0005213 Pancreatic calcification 
Show

 HP:0006280 Chronic pancreatitis 
Show

 HP:0008205 Insulin-dependent but ketosis-resistant diabetes 
Show

 HP:0011227 Elevated C-reactive protein level "An abnormal elevation of the C-reactive protein level in serum." [HPO:probinson]
Show

 HP:0012379 Abnormal enzyme/coenzyme activity "An altered ability of any enzyme or their cofactors to act as catalysts." [HPO:probinson, MP:0005584]
Show

 HP:0030247 Splanchnic vein thrombosis "The term splanchnic vein thrombosis encompasses Budd-Chiari syndrome (hepatic vein thrombosis), extrahepatic portal vein obstruction (EHPVO), and mesenteric vein thrombosis; the word splanchnic is used to refer to the visceral organs (of the abdominal cavity)." [HPO:probinson, pmid:20532730]
Show

 HP:0100027 Recurrent pancreatitis "A `recurrent` (PATO:0000427) form of `pancreatitis` (HP:0001733)." [HPO:probinson]
Show

  


Interacting proteins (from Reactome)
Interactor ID Name Interaction type
No match






 

0 s.

 
External programs and data are copyrighted by and are the property of their respective authors.
The Manteia system, data and analyses are provided "as is" with no warranties, expressed or implied as to capabilities or accuracy. User assumes the entire risk as to the results and performance of the software, data and documentation


                   


© Olivier Tassy / Olivier Pourquie 2007-2025
contact: otassy@igbmc.fr