Gene id |
5274 |
Gene Summary Protein Summary Gene ontology Diseases PubMed |
Gene Summary
|
Gene Symbol |
SERPINI1 Gene UCSC Ensembl |
Aliases |
PI12, neuroserpin |
Gene name |
serpin family I member 1 |
Alternate names |
neuroserpin, PI-12, peptidase inhibitor 12, serine (or cysteine) proteinase inhibitor, clade I (neuroserpin), member 1, serpin I1, serpin peptidase inhibitor clade I member 1, serpin peptidase inhibitor, clade I (neuroserpin), member 1, |
Gene location |
3q26.1 (167735720: 167825568) Exons: 9 NC_000003.12
|
Gene summary(Entrez) |
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 t
|
OMIM |
300189 |
Protein Summary
|
Protein general information
| Q99574
Name: Neuroserpin (Peptidase inhibitor 12) (PI 12) (Serpin I1)
Length: 410 Mass: 46427
Tissue specificity: Detected in brain cortex and hippocampus pyramidal neurons (at protein level) (PubMed
|
Sequence |
MAFLGLFSLLVLQSMATGATFPEEAIADLSVNMYNRLRATGEDENILFSPLSIALAMGMMELGAQGSTQKEIRHS MGYDSLKNGEEFSFLKEFSNMVTAKESQYVMKIANSLFVQNGFHVNEEFLQMMKKYFNAAVNHVDFSQNVAVANY INKWVENNTNNLVKDLVSPRDFDAATYLALINAVYFKGNWKSQFRPENTRTFSFTKDDESEVQIPMMYQQGEFYY GEFSDGSNEAGGIYQVLEIPYEGDEISMMLVLSRQEVPLATLEPLVKAQLVEEWANSVKKQKVEVYLPRFTVEQE IDLKDVLKALGITEIFIKDANLTGLSDNKEIFLSKAIHKSFLEVNEEGSEAAAVSGMIAISRMAVLYPQVIVDHP FFFLIRNRRTGTILFMGRVMHPETMNTSGHDFEEL
|
Structural information |
|
Other Databases |
GeneCards: SERPINI1  Malacards: SERPINI1 |
|
GO accession | Term name | Evidence code | Go category |
---|
GO:0010976 |
positive regulation of ne uron projection developme nt
|
ISS |
biological process |
GO:0004867 |
serine-type endopeptidase inhibitor activity
|
IBA |
molecular function |
GO:0010951 |
negative regulation of en dopeptidase activity
|
IBA |
biological process |
GO:0005615 |
extracellular space
|
IBA |
cellular component |
GO:0005615 |
extracellular space
|
IDA |
cellular component |
GO:0060205 |
cytoplasmic vesicle lumen
|
IDA |
cellular component |
GO:0043025 |
neuronal cell body
|
IDA |
cellular component |
GO:0004867 |
serine-type endopeptidase inhibitor activity
|
IDA |
molecular function |
GO:0004867 |
serine-type endopeptidase inhibitor activity
|
IDA |
molecular function |
GO:0005615 |
extracellular space
|
IEA |
cellular component |
GO:0005576 |
extracellular region
|
IEA |
cellular component |
GO:0031410 |
cytoplasmic vesicle
|
IEA |
cellular component |
GO:0010466 |
negative regulation of pe ptidase activity
|
IEA |
biological process |
GO:0030414 |
peptidase inhibitor activ ity
|
IEA |
molecular function |
GO:0004867 |
serine-type endopeptidase inhibitor activity
|
IEA |
molecular function |
GO:0007422 |
peripheral nervous system development
|
TAS |
biological process |
GO:0007417 |
central nervous system de velopment
|
TAS |
biological process |
GO:0030155 |
regulation of cell adhesi on
|
IEA |
biological process |
GO:0034774 |
secretory granule lumen
|
IEA |
cellular component |
GO:0010976 |
positive regulation of ne uron projection developme nt
|
IEA |
biological process |
GO:0004867 |
serine-type endopeptidase inhibitor activity
|
IEA |
molecular function |
GO:0043025 |
neuronal cell body
|
IEA |
cellular component |
GO:0005576 |
extracellular region
|
IEA |
cellular component |
GO:0043204 |
perikaryon
|
IEA |
cellular component |
GO:0070062 |
extracellular exosome
|
HDA |
cellular component |
|
|
Associated diseases |
References |
Familial encephalopathy with neuroserpin inclusion bodies | KEGG:H01212 |
Familial encephalopathy with neuroserpin inclusion bodies | KEGG:H01212 |
Aberrant CpGs in Low Motility Sperm | MIK: 21674046 |
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|
PMID |
Condition |
Mutation |
Ethnicity |
Population details |
Infertility_type |
Associated_genes |
Abstract |
21674046 |
Aberrant C pGs in Low Motility Sperm
|
|
|
18
|
Male infertility |
GSE26881
|
Show abstract |
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