Entity Details

Primary name SERPINI1
Entity type gene
Source Source Link

Details

PrimaryID5274
RefseqGeneNG_008217
SymbolSERPINI1
Nameserpin family I member 1
Chromosome3
Location3q26.1
TaxID9606
Statuslive
SourceGenomegenomic
SourceOriginnatural
CreationDate2001-01-14
ModificationDate2021-06-11

Ontological Relatives

UniProt IDsNEUS_HUMAN

GO terms

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GOName
GO:0004867 serine-type endopeptidase inhibitor activity
GO:0005615 extracellular space
GO:0007417 central nervous system development
GO:0007422 peripheral nervous system development
GO:0010951 negative regulation of endopeptidase activity
GO:0010976 positive regulation of neuron projection development
GO:0030155 regulation of cell adhesion
GO:0034774 secretory granule lumen
GO:0043025 neuronal cell body
GO:0043204 perikaryon
GO:0060205 cytoplasmic vesicle lumen
GO:0070062 extracellular exosome

Diseases

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Disease IDSourceNameDescription
604218 OMIMEncephalopathy, familial, with neuroserpin inclusion bodies (FENIB)A neurodegenerative disease clinically characterized by dementia. Additional features include intellectual decline, psychic seizures, progressive myoclonic epilepsy, and cerebral atrophy. Histologically, it is characterized by the presence of eosinophilic inclusion bodies (called Collins bodies) throughout the deeper layers of the cerebral cortex, leading to neuronal death. The disease is caused by variants affecting the gene represented in this entry.

Interactions

6 interactions