Serpina1b serine (or cysteine) preptidase inhibitor, clade A, member 1B [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Serpina1bprovided by MGI
Official Full Name: serine (or cysteine) preptidase inhibitor, clade A, member 1Bprovided by MGI
Primary source: MGI:MGI:891970
See related: Ensembl:ENSMUSG00000071178 AllianceGenome:MGI:891970
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: PI2; Dom2; Spi1-2; D12Ucla2
Summary: Enables serine-type endopeptidase inhibitor activity. Acts upstream of or within several processes, including in utero embryonic development; protein N-linked glycosylation; and response to peptide hormone. Located in extracellular region. Is expressed in gut; liver lobe; nucleus pulposus; and renal calyx. 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, Dec 2024]
Expression: Biased expression in liver adult (RPKM 6265.9), liver E18 (RPKM 2144.9) 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 (103694415..103704448, complement)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	12	NC_000078.6 (103728156..103738189, 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?

Loss of alpha 1-Antitrypsin is associated with emphysema.
Title: Oxidation of Z α1-antitrypsin by cigarette smoke induces polymerization: a novel mechanism of early-onset emphysema.

Submit: New GeneRIF Correction

Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics (MGI)

Targeted (1) 1 citation

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

AI118301 (e-PCR)
- UniSTS:180458

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 protease binding	ISO Inferred from Sequence Orthology more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables serine-type endopeptidase inhibitor activity	IMP Inferred from Mutant Phenotype more info	PubMed
enables serine-type endopeptidase inhibitor activity	ISO Inferred from Sequence Orthology more info

Process	Evidence Code	Pubs
involved_in acute-phase response	IEA Inferred from Electronic Annotation more info
acts_upstream_of_or_within in utero embryonic development	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within protein N-linked glycosylation	IDA Inferred from Direct Assay more info	PubMed
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	IDA Inferred from Direct Assay more info	PubMed
is_active_in extracellular space	IBA Inferred from Biological aspect of Ancestor more info
located_in extracellular space	IEA Inferred from Electronic Annotation 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 1-2

Names: AAT; alpha-1 protease inhibitor 2; alpha-1-antiproteinase; serine (or cysteine) proteinase inhibitor, clade A, member 1b; serine protease inhibitor 1-2; serine protease inhibitor A1b; serpin A1b

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.