Serpina1e serine (or cysteine) peptidase inhibitor, clade A, member 1E [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Serpina1eprovided by MGI
Official Full Name: serine (or cysteine) peptidase inhibitor, clade A, member 1Eprovided by MGI
Primary source: MGI:MGI:891967
See related: Ensembl:ENSMUSG00000072849 AllianceGenome:MGI:891967
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Mus musculus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as: PI5; Dom5; Spi1-5
Summary: Predicted to enable identical protein binding activity; protease binding activity; and serine-type endopeptidase inhibitor activity. Acts upstream of or within response to cytokine and response to peptide hormone. Predicted to be located in Golgi apparatus and endoplasmic reticulum. Predicted to be active in extracellular space. Is expressed in gut; liver lobe; metanephros; and nucleus pulposus. Human ortholog(s) of this gene implicated in several diseases, including alpha 1-antitrypsin deficiency; artery disease (multiple); chronic obstructive pulmonary disease (multiple); inflammatory bowel disease (multiple); and liver disease (multiple). Orthologous to human SERPINA1 (serpin family A member 1). [provided by Alliance of Genome Resources, Apr 2022]
Expression: Biased expression in liver E18 (RPKM 3788.0), liver adult (RPKM 2519.4) and 2 other tissues See more
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Genomic context

Location:: 12 E; 12 52.98 cM

Exon count:: 5

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	12	NC_000078.7 (103913190..103923156, complement)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	12	NC_000078.6 (103946931..103956897, complement)

Chromosome 12 - NC_000078.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

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Expression

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See details

Project title: Mouse ENCODE transcriptome data
Description: RNA profiling data sets generated by the Mouse ENCODE project.
BioProject: PRJNA66167
Publication: PMID 25409824
Analysis date: n/a

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

clathrin-mediated endocytosis regulates A1AT intracellular function in the lung endothelium and may be an important determinant of the serpin's protection against developing cigarette smoke-induced emphysema
Title: Mechanism of alpha-1 antitrypsin endocytosis by lung endothelium.

Submit: New GeneRIF Correction

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

Serpina1 (e-PCR), detects polymorphism
- UniSTS:502732

Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables endopeptidase inhibitor activity	ISO Inferred from Sequence Orthology more info
enables identical protein binding	ISO Inferred from Sequence Orthology more info
enables peptidase inhibitor activity	IEA Inferred from Electronic Annotation more info
enables protease binding	ISO Inferred from Sequence Orthology more info
enables serine-type endopeptidase inhibitor activity	IBA Inferred from Biological aspect of Ancestor more info
enables serine-type endopeptidase inhibitor activity	ISO Inferred from Sequence Orthology more info

Process	Evidence Code	Pubs
involved_in negative regulation of endopeptidase activity	IBA Inferred from Biological aspect of Ancestor more info
acts_upstream_of_or_within negative regulation of peptidase activity	IEA Inferred from Electronic Annotation more info
involved_in response to chromate	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within response to cytokine	IDA Inferred from Direct Assay more info	PubMed
involved_in response to lead ion	ISO Inferred from Sequence Orthology more info
involved_in response to methanol	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within response to peptide hormone	IDA Inferred from Direct Assay more info	PubMed

Component	Evidence Code	Pubs
located_in Golgi apparatus	ISO Inferred from Sequence Orthology more info
located_in endoplasmic reticulum	ISO Inferred from Sequence Orthology more info
located_in extracellular region	IEA Inferred from Electronic Annotation more info
is_active_in extracellular space	IBA Inferred from Biological aspect of Ancestor more info
located_in extracellular space	ISO Inferred from Sequence Orthology more info
located_in intracellular membrane-bounded organelle	ISO Inferred from Sequence Orthology more info

General protein information

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Preferred Names: alpha-1-antitrypsin 1-5

Names: alpha-1 protease inhibitor 5; serine (or cysteine) proteinase inhibitor, clade A, member 1e; serine protease inhibitor 1-5; serine protease inhibitor A1e; serpin A1e

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.