Entity Details

Primary name SPINK5
Entity type gene
Source Source Link

Details

PrimaryID11005
RefseqGeneNG_009633
SymbolSPINK5
Nameserine peptidase inhibitor Kazal type 5
Chromosome5
Location5q32
TaxID9606
Statuslive
SourceGenomegenomic
SourceOriginnatural
CreationDate2000-05-16
ModificationDate2021-06-11

Ontological Relatives

UniProt IDsISK5_HUMAN

GO terms

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GOName
GO:0002787 negative regulation of antibacterial peptide production
GO:0004867 serine-type endopeptidase inhibitor activity
GO:0005576 extracellular region
GO:0005737 cytoplasm
GO:0005783 endoplasmic reticulum
GO:0005789 endoplasmic reticulum membrane
GO:0005829 cytosol
GO:0005938 cell cortex
GO:0007275 multicellular organism development
GO:0007417 central nervous system development
GO:0009913 epidermal cell differentiation
GO:0016525 negative regulation of angiogenesis
GO:0030154 cell differentiation
GO:0030155 regulation of cell adhesion
GO:0030198 extracellular matrix organization
GO:0030855 epithelial cell differentiation
GO:0035315 hair cell differentiation
GO:0043231 intracellular membrane-bounded organelle
GO:0045580 regulation of T cell differentiation
GO:0048471 perinuclear region of cytoplasm
GO:0050777 negative regulation of immune response
GO:0051884 regulation of timing of anagen
GO:0070268 cornification
GO:0097209 epidermal lamellar body
GO:1900004 negative regulation of serine-type endopeptidase activity
GO:1902572 negative regulation of serine-type peptidase activity

Diseases

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Disease IDSourceNameDescription
256500 OMIMNetherton syndrome (NETH)An autosomal recessive congenital ichthyosis associated with hair shaft abnormalities and anomalies of the immune system. Typical features are ichthyosis linearis circumflexa, ichthyosiform erythroderma, trichorrhexis invaginata (bamboo hair), atopic dermatitis, and hayfever. High postnatal mortality is due to failure to thrive, infections and hypernatremic dehydration. The disease is caused by variants affecting the gene represented in this entry.

Interactions

4 interactions

InteractorPartnerSourcesPublicationsLink
SPINK5PRSS1HPRD10419450 details
SPINK5TFGBioGRID, IntAct26186194 28514442 details
SPINK5PRPF8BioGRID28515276 details
SPINK5DCAF4BioGRID30945288 details