ERAP1

endoplasmic reticulum aminopeptidase 1, the group of Aminopeptidases|Minor histocompatibility antigens|M1 metallopeptidases

Basic information

Region (hg38): 5:96760810-96808100

Links

ENSG00000164307NCBI:51752OMIM:606832HGNC:18173Uniprot:Q9NZ08AlphaFoldGenCCjaxSfariGnomADPubmedClinVar

Phenotypes

GenCC

Source: genCC

No genCC data.

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the ERAP1 gene.

  • not_specified (100 variants)
  • not_provided (28 variants)
  • Long_QT_syndrome (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the ERAP1 gene is commonly pathogenic or not. These statistics are base on transcript: NM_001040458.3. Only rare variants are included in the table.

In the table, we include only reliable ClinVar variants with their consequences to MANE Select, Mane Plus Clinical transcripts, or transcripts with TSL equals 1. Click the count to view the source variants.

Warning: slight differences between displayed counts and the number of variants in ClinVar may occur, primarily due to (1) the application of a different transcript and/or consequence by our variant effect predictor or (2) differences in clinical significance: we classify Benign/Likely benign variants as Likely benign and Pathogenic/Likely pathogenic variants as Likely pathogenic.

EffectPLPVUSLBBSum
synonymous
9
clinvar
9
clinvar
18
missense
90
clinvar
11
clinvar
3
clinvar
104
nonsense
0
start loss
0
frameshift
1
clinvar
1
splice donor/acceptor (+/-2bp)
0
Total 0 0 91 20 12
Loading clinvar variants...

GnomAD

Source: gnomAD

GeneTypeBio TypeTranscript Coding Exons Length
ERAP1protein_codingprotein_codingENST00000296754 1947283
pLI Probability
LOF Intolerant
pRec Probability
LOF Recessive
Individuals with
no LOFs
Individuals with
Homozygous LOFs
Individuals with
Heterozygous LOFs
Defined p
2.06e-260.00253124532512111257480.00485
Z-Score Observed Expected Observed/Expected Mutation Rate Total Possible in Transcript
Missense0.5294705030.9340.00002566269
Missense in Polyphen150164.730.91062130
Synonymous-0.04101901891.000.00001061779
Loss of Function0.7944349.00.8780.00000245567

LoF frequencies by population

EthnicitySum of pLOFs p
African & African-American0.01810.0182
Ashkenazi Jewish0.00009990.0000992
East Asian0.007610.00764
Finnish0.001660.00166
European (Non-Finnish)0.003900.00389
Middle Eastern0.007610.00764
South Asian0.003730.00363
Other0.003910.00392

dbNSFP

Source: dbNSFP

Function
FUNCTION: Aminopeptidase that plays a central role in peptide trimming, a step required for the generation of most HLA class I- binding peptides. Peptide trimming is essential to customize longer precursor peptides to fit them to the correct length required for presentation on MHC class I molecules. Strongly prefers substrates 9-16 residues long. Rapidly degrades 13-mer to a 9-mer and then stops. Preferentially hydrolyzes the residue Leu and peptides with a hydrophobic C-terminus, while it has weak activity toward peptides with charged C-terminus. May play a role in the inactivation of peptide hormones. May be involved in the regulation of blood pressure through the inactivation of angiotensin II and/or the generation of bradykinin in the kidney. {ECO:0000269|PubMed:15908954, ECO:0000269|PubMed:16286653, ECO:0000269|PubMed:21478864}.;

Recessive Scores

pRec
0.116

Intolerance Scores

loftool
0.999
rvis_EVS
1.08
rvis_percentile_EVS
91.73

Haploinsufficiency Scores

pHI
0.107
hipred
N
hipred_score
0.167
ghis
0.467

Essentials

essential_gene_CRISPR
N
essential_gene_CRISPR2
N
essential_gene_gene_trap
N
gene_indispensability_pred
E
gene_indispensability_score
0.517

Gene Damage Prediction

AllRecessiveDominant
MendelianHighHighHigh
Primary ImmunodeficiencyHighHighHigh
CancerHighHighHigh

Mouse Genome Informatics

Gene name
Erap1
Phenotype
immune system phenotype; renal/urinary system phenotype; hematopoietic system phenotype; endocrine/exocrine gland phenotype;

Gene ontology

Biological process
angiogenesis;adaptive immune response;antigen processing and presentation of peptide antigen via MHC class I;proteolysis;membrane protein ectodomain proteolysis;regulation of blood pressure;response to bacterium;antigen processing and presentation of endogenous peptide antigen via MHC class I;peptide catabolic process;regulation of innate immune response;fat cell differentiation;positive regulation of angiogenesis
Cellular component
extracellular region;extracellular space;cytoplasm;endoplasmic reticulum;endoplasmic reticulum lumen;endoplasmic reticulum membrane;cytosol;membrane;integral component of membrane;extracellular exosome
Molecular function
endopeptidase activity;aminopeptidase activity;interleukin-6 receptor binding;interleukin-1, type II receptor binding;protein binding;metalloexopeptidase activity;zinc ion binding;peptide binding;metalloaminopeptidase activity