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
Method
Confidence
Comments
SSD Ortholog
Ortholog supports species divergence
Not yet available
SSD Ortholog
Ortholog supports species divergence
Pathways
NETPATH
REACTOME
KEGG
INOH
PID BIOCARTA
PID NCI
Validated targets of C-MYC transcriptional activation
Cross-References
SwissProt Q99574
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
IMGT
EMBL AC026353 AC079822 AF248244 AF248245 AF248246 AK290082 BC018043 CH471052 CR627434 Z81326
GenPept AAG01089 AAH18043 BAF82771 CAB03626 CAH10520 EAW78571 EAW78572 EAW78573
RNA Seq Atlas 5274