Homo sapiens Gene: SERPINI1 | |||||||||||||||||||
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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
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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] |
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Gene Information | |||||||||||||||||||
Type | Protein coding | ||||||||||||||||||
Genomic Location | Chromosome 3:167735243-167825568 | ||||||||||||||||||
Strand | Forward strand | ||||||||||||||||||
Band | q26.1 | ||||||||||||||||||
Transcripts |
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Interactions | |||||||||||||||||||
Number of Interactions |
This gene and/or its encoded proteins are associated with 5 experimentally validated interaction(s) in this database.
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Gene Ontology | |||||||||||||||||||
Molecular Function |
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Biological Process |
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Cellular Component |
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Orthologs | |||||||||||||||||||
Species
Mus musculus
Bos taurus
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Gene ID
Gene Order
Not yet available
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Pathways | |||||||||||||||||||
NETPATH | |||||||||||||||||||
REACTOME | |||||||||||||||||||
KEGG | |||||||||||||||||||
INOH | |||||||||||||||||||
PID NCI |
Validated targets of C-MYC transcriptional activation
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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 | ||||||||||||||||||