Serpina1d serine (or cysteine) peptidase inhibitor, clade A, member 1D [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Serpina1dprovided by MGI
Official Full Name: serine (or cysteine) peptidase inhibitor, clade A, member 1Dprovided by MGI
Primary source: MGI:MGI:891968
See related: Ensembl:ENSMUSG00000071177 AllianceGenome:MGI:891968
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: AAT; PI4; Dom1; Dom4; DOM-7; Spi1-1; Spi1-4; Serpina1a
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. Located in extracellular region. Is expressed in gut and liver lobe. 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, Nov 2024]
Expression: Biased expression in liver adult (RPKM 5841.6), liver E18 (RPKM 1749.3) and 1 other tissue 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 (103729846..103739892, complement)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	12	NC_000078.6 (103763587..103773633, complement)

Chromosome 12 - NC_000078.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

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?

Impact of PNPLA3 I148M on alpha-1 antitrypsin deficiency-dependent liver disease progression.
Title: Impact of PNPLA3 I148M on alpha-1 antitrypsin deficiency-dependent liver disease progression.
CHOP and c-JUN up-regulate the mutant Z alpha1-antitrypsin, exacerbating its aggregation and liver proteotoxicity.
Title: CHOP and c-JUN up-regulate the mutant Z α(1)-antitrypsin, exacerbating its aggregation and liver proteotoxicity.
Pi*ZZ individuals display minor alterations in serum iron parameters. Neither mild iron overload seen in these individuals nor the presence of HFE mutations (C282Y and H63D) constitute a major contributor to liver fibrosis development.
Title: Mild Iron Overload as Seen in Individuals Homozygous for the Alpha-1 Antitrypsin Pi*Z Variant Does Not Promote Liver Fibrogenesis in HFE Knockout Mice.
calreticulin modulation may eliminate the toxic gain of function associated with aggregation of ZAAT in lung and liver, thus providing a potential new therapeutic approach to the treatment of AATD-related liver disease.
Title: Modulation of calreticulin expression reveals a novel exosome-mediated mechanism of Z variant α(1)-antitrypsin disposal.

Submit: New GeneRIF Correction

Variation

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Alleles

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

Endonuclease-mediated (1)

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 serine-type endopeptidase inhibitor activity	IEA Inferred from Electronic Annotation more info
enables serine-type endopeptidase inhibitor activity	ISO Inferred from Sequence Orthology more info

Process	Evidence Code	Pubs
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 1-4

Names: Alpha-1 protease inhibitor 1; Alpha-1-antiproteinase; Alpha-1-antitrypsin 1-1; Serine protease inhibitor 1-1; Serine protease inhibitor A1a; Serpin A1a; Serpina1 DOM-7; alpha-1 protease inhibitor 4; serine (or cysteine) proteinase inhibitor, clade A, member 1d; serine protease inhibitor 1-4; serine protease inhibitor A1d; serpin A1d

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.

mRNA and Protein(s)

NM_009246.3 → NP_033272.1 alpha-1-antitrypsin 1-4 precursor

Status: VALIDATED

Source sequence(s)

AC098741, AW110715, M75718

Consensus CDS

CCDS26139.1

UniProtKB/Swiss-Prot

Q00897

UniProtKB/TrEMBL

A0A2P9DUN6

Related

ENSMUSP00000077909.6, ENSMUST00000078869.6

Conserved Domains (1) summary

smart00093
Location:53 → 410

SERPIN; SERine Proteinase INhibitors