Erap1 endoplasmic reticulum aminopeptidase 1 [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Erap1provided by MGI
Official Full Name: endoplasmic reticulum aminopeptidase 1provided by MGI
Primary source: MGI:MGI:1933403
See related: Ensembl:ENSMUSG00000021583 AllianceGenome:MGI:1933403
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: A-LAP; Arts1; ERAAP; PILSA; ARTS-1; PILSAP
Summary: Enables aminopeptidase activity. Acts upstream of or within positive regulation of angiogenesis and proteolysis. Located in cytoplasm. Is expressed in several structures, including alimentary system; brain; genitourinary system; immune system; and respiratory system. Human ortholog(s) of this gene implicated in cervix carcinoma. Orthologous to human ERAP1 (endoplasmic reticulum aminopeptidase 1). [provided by Alliance of Genome Resources, Nov 2024]
Expression: Ubiquitous expression in bladder adult (RPKM 8.6), large intestine adult (RPKM 8.2) and 27 other tissues See more
Orthologs: human all
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Genomic context

Location:: 13 C1; 13 40.48 cM

Exon count:: 20

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	13	NC_000079.7 (74787692..74841321)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	13	NC_000079.6 (74639573..74693205)

Chromosome 13 - NC_000079.7 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 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?

Murine cytomegalovirus downregulates ERAAP and induces an unconventional T cell response to self.
Title: Murine cytomegalovirus downregulates ERAAP and induces an unconventional T cell response to self.
Characterization of immune responses associated with ERAP-1 expression in HSV-induced Behcet's disease mouse model.
Title: Characterization of immune responses associated with ERAP-1 expression in HSV-induced Behçet's disease mouse model.
Absence of ERAP1 in B Cells Increases Susceptibility to Central Nervous System Autoimmunity, Alters B Cell Biology, and Mechanistically Explains Genetic Associations between ERAP1 and Multiple Sclerosis.
Title: Absence of ERAP1 in B Cells Increases Susceptibility to Central Nervous System Autoimmunity, Alters B Cell Biology, and Mechanistically Explains Genetic Associations between ERAP1 and Multiple Sclerosis.
ERAP1 is a critical regulator of inflammasome-mediated proinflammatory and ER stress responses.
Title: ERAP1 is a critical regulator of inflammasome-mediated proinflammatory and ER stress responses.
Sex-specific differences in endoplasmic reticulum aminopeptidase 1 modulation influence blood pressure and renin-angiotensin system responses.
Title: Sex-specific differences in endoplasmic reticulum aminopeptidase 1 modulation influence blood pressure and renin-angiotensin system responses.
ERAP1 has a role in cancer and is a promising therapeutic target for Hedgehog-driven tumors.
Title: ERAP1 promotes Hedgehog-dependent tumorigenesis by controlling USP47-mediated degradation of βTrCP.
ERAP1(-/-) mice may serve as a useful animal model for studying pathogenesis of intestinal, skeletal, and immunological manifestations of Ankylosing Spondylitis.
Title: ERAP1 deficient mice have reduced Type 1 regulatory T cells and develop skeletal and intestinal features of Ankylosing Spondylitis.
Study in hepatocellular carcinoma mouse models shows that Erap1 is critically involved in the process of tumor rejection and assumes a dual role by independently operating on both sides. Direct presentation of two MHC-I-restricted epitopes of a cancer-driving transplantation rejection antigen through Erap1 moderately affected tumor rejection by adoptively transferred T-cell receptor gene-modified T cells in each case.
Title: ERAP1-Dependent Antigen Cross-Presentation Determines Efficacy of Adoptive T-cell Therapy in Mice.
The ERAP1 behaves similar to acute-phase proteins, which are secreted into the blood in response to infectious/inflammatory stimuli and are involved in enhancing NO synthesis as a host defense mechanism.
Title: Acute-phase protein-like properties of endoplasmic reticulum aminopeptidase 1.
data provide the first evidence that ERAP1 associated with exosomes plays important roles in inflammatory processes via activation of macrophages.
Title: Contribution of the exosome-associated form of secreted endoplasmic reticulum aminopeptidase 1 to exosome-mediated macrophage activation.

Submit: New GeneRIF Correction See all GeneRIFs (26)

Variation

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Alleles

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

Endonuclease-mediated (4) 1 citation
Targeted (10) 1 citation

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

UniSTS:495933 (e-PCR)
- UniSTS:495933

Arts1 (e-PCR), detects polymorphism
- UniSTS:495933

Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables aminopeptidase activity	IDA Inferred from Direct Assay more info	PubMed
enables aminopeptidase activity	ISO Inferred from Sequence Orthology more info
enables aminopeptidase activity	ISS Inferred from Sequence or Structural Similarity more info
enables endopeptidase activity	ISO Inferred from Sequence Orthology more info
enables interleukin-6 receptor binding	ISO Inferred from Sequence Orthology more info
enables interleukin-6 receptor binding	ISS Inferred from Sequence or Structural Similarity more info
enables metalloaminopeptidase activity	IBA Inferred from Biological aspect of Ancestor more info
enables metalloexopeptidase activity	ISO Inferred from Sequence Orthology more info
enables metalloexopeptidase activity	ISS Inferred from Sequence or Structural Similarity more info
enables peptidase activity	IMP Inferred from Mutant Phenotype more info	PubMed
enables peptide binding	IBA Inferred from Biological aspect of Ancestor more info
enables tumor necrosis factor receptor binding	ISO Inferred from Sequence Orthology more info
enables zinc ion binding	IBA Inferred from Biological aspect of Ancestor more info
enables zinc ion binding	IEA Inferred from Electronic Annotation more info
enables zinc ion binding	ISO Inferred from Sequence Orthology more info

Process	Evidence Code	Pubs
involved_in adaptive immune response	IEA Inferred from Electronic Annotation more info
involved_in membrane protein ectodomain proteolysis	ISO Inferred from Sequence Orthology more info
involved_in membrane protein ectodomain proteolysis	ISS Inferred from Sequence or Structural Similarity more info
involved_in peptide catabolic process	IBA Inferred from Biological aspect of Ancestor more info
acts_upstream_of_or_within positive regulation of angiogenesis	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in protein catabolic process	ISO Inferred from Sequence Orthology more info
involved_in proteolysis	IBA Inferred from Biological aspect of Ancestor more info
acts_upstream_of_or_within proteolysis	IDA Inferred from Direct Assay more info	PubMed

Component	Evidence Code	Pubs
is_active_in cytoplasm	IBA Inferred from Biological aspect of Ancestor more info
located_in cytoplasm	IDA Inferred from Direct Assay more info	PubMed
located_in endoplasmic reticulum lumen	ISO Inferred from Sequence Orthology more info
located_in endoplasmic reticulum membrane	IEA Inferred from Electronic Annotation more info
located_in extracellular region	ISO Inferred from Sequence Orthology more info
located_in extracellular region	ISS Inferred from Sequence or Structural Similarity more info
is_active_in extracellular space	IBA Inferred from Biological aspect of Ancestor more info
is_active_in membrane	IBA Inferred from Biological aspect of Ancestor more info

General protein information

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Preferred Names: endoplasmic reticulum aminopeptidase 1

Names: VEGF-induced aminopeptidase; adipocyte-derived leucine aminopeptidase; aminopeptidase PILS; puromycin-insensitive leucyl-specific aminopeptidase; type 1 tumor necrosis factor receptor shedding aminopeptidase regulator

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_001426580.1 → NP_001413509.1 endoplasmic reticulum aminopeptidase 1 isoform 1 precursor

Status: VALIDATED

Source sequence(s)

AC138120

UniProtKB/Swiss-Prot

Q6GTP5, Q9EQH2, Q9ET63
NM_001426581.1 → NP_001413510.1 endoplasmic reticulum aminopeptidase 1 isoform 2 precursor

Status: VALIDATED

Source sequence(s)

AC138120
NM_030711.6 → NP_109636.1 endoplasmic reticulum aminopeptidase 1 isoform 1 precursor

See identical proteins and their annotated locations for NP_109636.1

Status: VALIDATED

Source sequence(s)

AC138120

Consensus CDS

CCDS26647.1

UniProtKB/Swiss-Prot

Q6GTP5, Q9EQH2, Q9ET63

Related

ENSMUSP00000133166.2, ENSMUST00000169114.3

Conserved Domains (2) summary

cd09601
Location:50 → 515

M1_APN-Q_like; Peptidase M1 aminopeptidase N catalytic domain family which includes aminopeptidase N (APN), aminopeptidase Q (APQ), tricorn interacting factor F3, and endoplasmic reticulum aminopeptidase 1 (ERAP1)

pfam11838
Location:586 → 905

ERAP1_C; ERAP1-like C-terminal domain

RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCm39 C57BL/6J

Genomic

NC_000079.7 Reference GRCm39 C57BL/6J

Range

74787692..74841321

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_030247471.1 → XP_030103331.1 endoplasmic reticulum aminopeptidase 1 isoform X2

Conserved Domains (2) summary

cd09601
Location:50 → 515

M1_APN-Q_like; Peptidase M1 aminopeptidase N catalytic domain family which includes aminopeptidase N (APN), aminopeptidase Q (APQ), tricorn interacting factor F3, and endoplasmic reticulum aminopeptidase 1 (ERAP1)

pfam11838
Location:586 → 881

ERAP1_C; ERAP1-like C-terminal domain
XM_006517476.5 → XP_006517539.1 endoplasmic reticulum aminopeptidase 1 isoform X1

See identical proteins and their annotated locations for XP_006517539.1

UniProtKB/Swiss-Prot

Q6GTP5, Q9EQH2, Q9ET63

Conserved Domains (2) summary

cd09601
Location:50 → 515

M1_APN-Q_like; Peptidase M1 aminopeptidase N catalytic domain family which includes aminopeptidase N (APN), aminopeptidase Q (APQ), tricorn interacting factor F3, and endoplasmic reticulum aminopeptidase 1 (ERAP1)

pfam11838
Location:586 → 905

ERAP1_C; ERAP1-like C-terminal domain