Homo sapiens Gene: SERPINI1
Summary
InnateDB Gene IDBG-64026.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol SERPINI1
Gene Name serpin peptidase inhibitor, clade I (neuroserpin), member 1
Synonyms neuroserpin; PI12
Species Homo sapiens
Ensembl Gene ENSG00000163536
Encoded Proteins
serpin peptidase inhibitor, clade I (neuroserpin), member 1
serpin peptidase inhibitor, clade I (neuroserpin), member 1
serpin peptidase inhibitor, clade I (neuroserpin), member 1
serpin peptidase inhibitor, clade I (neuroserpin), member 1
serpin peptidase inhibitor, clade I (neuroserpin), member 1
Protein Structure
Useful resources Stemformatics EHFPI ImmGen
Entrez Gene
Summary This gene encodes a member of the serpin superfamily of serine proteinase inhibitors. The protein is primarily secreted by axons in the brain, and preferentially reacts with and inhibits tissue-type plasminogen activator. It is thought to play a role in the regulation of axonal growth and the development of synaptic plasticity. Mutations in this gene result in familial encephalopathy with neuroserpin inclusion bodies (FENIB), which is a dominantly inherited form of familial encephalopathy and epilepsy characterized by the accumulation of mutant neuroserpin polymers. Multiple alternatively spliced variants, encoding the same protein, have been identified. [provided by RefSeq, Jul 2008]
Gene Information
Type Protein coding
Genomic Location Chromosome 3:167735243-167825568
Strand Forward strand
Band q26.1
Transcripts
ENST00000295777 ENSP00000295777
ENST00000446050 ENSP00000397373
ENST00000472941 ENSP00000420133
ENST00000472747 ENSP00000420561
ENST00000488374
ENST00000466865 ENSP00000420807
ENST00000494666
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 5 experimentally validated interaction(s) in this database.
Experimentally validated
Total 5 [view]
Protein-Protein 2 [view]
Protein-DNA 3 [view]
Protein-RNA 0
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
Gene Ontology

Molecular Function
Accession GO Term
GO:0004867 serine-type endopeptidase inhibitor activity
Biological Process
GO:0007417 central nervous system development
GO:0007422 peripheral nervous system development
GO:0008219 cell death
GO:0010951 negative regulation of endopeptidase activity
GO:0030155 regulation of cell adhesion
GO:0030162 regulation of proteolysis
Cellular Component
GO:0005615 extracellular space
GO:0070062 extracellular vesicular exosome
Orthologs
Species
Mus musculus
Bos taurus
Gene ID
Gene Order
Not yet available
Pathways
NETPATH
REACTOME
KEGG
INOH
PID NCI
Validated targets of C-MYC transcriptional activation
Cross-References
SwissProt
TrEMBL C9JDY5 C9JQU8
UniProt Splice Variant
Entrez Gene 5274
UniGene Hs.478153
RefSeq NM_001122752 NM_005025 XM_006713657
HUGO HGNC:8943
OMIM 602445
CCDS CCDS3203
HPRD 03901
IMGT
EMBL AC026353 AC079822
GenPept
RNA Seq Atlas 5274