SERPINI1 (serpin family I member 1)

2015-06-01  

Identity

HGNC
LOCATION
3q26.1
LOCUSID
ALIAS
HNS-S1,HNS-S2,PI12,neuroserpin
FUSION GENES

Other Information

Locus ID:

NCBI: 5274
MIM: 602445
HGNC: 8943
Ensembl: ENSG00000163536

Variants:

dbSNP: 5274
ClinVar: 5274
TCGA: ENSG00000163536
COSMIC: SERPINI1

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000163536ENST00000295777Q99574
ENSG00000163536ENST00000295777A0A0S2Z455
ENSG00000163536ENST00000446050Q99574
ENSG00000163536ENST00000446050A0A0S2Z455
ENSG00000163536ENST00000466865H7C5T9
ENSG00000163536ENST00000472747C9JDY5
ENSG00000163536ENST00000472941C9JQU8

Expression (GTEx)

0
50
100
150
200
250
300

Protein levels (Protein atlas)

Not detected
Low
Medium
High

References

Pubmed IDYearTitleCitations
150905432004Mutants of neuroserpin that cause dementia accumulate as polymers within the endoplasmic reticulum.39
168493362006Neuroserpin binds Abeta and is a neuroprotective component of amyloid plaques in Alzheimer disease.34
118803762002Mutant Neuroserpin (S49P) that causes familial encephalopathy with neuroserpin inclusion bodies is a poor proteinase inhibitor and readily forms polymers in vitro.25
192227082009Plasminogen activator activity is inhibited while neuroserpin is up-regulated in the Alzheimer disease brain.23
194237132009Neuroserpin polymers activate NF-kappaB by a calcium signaling pathway that is independent of the unfolded protein response.23
149832202004Neuroserpin: a selective inhibitor of tissue-type plasminogen activator in the central nervous system.21
152698332004Tissue plasminogen activator and neuroserpin are widely expressed in the human central nervous system.21
122282522002Acyl-enzyme complexes between tissue-type plasminogen activator and neuroserpin are short-lived in vitro.19
192657072009Human neuroserpin: structure and time-dependent inhibition.19
194235402009Common variation in genes related to innate immunity and risk of adult glioma.19

Citation

Dessen P

SERPINI1 (serpin family I member 1)

Atlas Genet Cytogenet Oncol Haematol. 2015-06-01

Online version: http://atlasgeneticsoncology.org/gene/55287/serpini1