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Connecting genetic risk to disease endpoints through the human blood plasma proteome

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Locus annotations

Locus 120

Top associations per target

Target cis/​trans Study SNP SNP location Maj/​min allele MAF N βinv seinv Pinv fclog Plog Praw
ARTS1 cis Discovery rs149313 5:96,070,205 C/T 0.47 995 0.523 0.042 4.2×10-33 1.240 3.5×10-31 2.1×10-32
ARTS1 cis Replication rs149313 5:96,070,205 A/G 0.49 337 -0.397 0.068 1.4×10-8 -1.190 5.9×10-7 1.8×10-8

 

Regional association plots

Endoplasmic reticulum aminopeptidase 1 (ARTS1)

Download the association data used to generate this plot

 

Boxplots and histograms for top associations

Endoplasmic reticulum aminopeptidase 1 (ARTS1)

inverse-normalized probe levels log2 transformed probe levels raw probe levels
Discovery study
Replication study

Endoplasmic reticulum aminopeptidase 1 (ARTS1)

Target (abbrv.) ARTS1
Target (full name) Endoplasmic reticulum aminopeptidase 1
Somalogic ID (Sequence ID) SL007729 (4964-67_1)
Entrez Gene Symbol ERAP1
UniProt ID Q9NZ08
UniProt Comment
  • 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.
Reactome
  • Antigen Presentation: Folding, assembly and peptide loading of class I MHC

All locus annotations are based on the sentinel SNP (rs149313) and 4 proxy variant(s) that is/are in linkage disequilibrium r2 ≥ 0.8. Linkage disequilibrium is based on data from the 1000 Genomes Project, phase 3 version 5, European population and was retrieved using SNiPA's Block Annotation feature.
Download the detailed results of SNiPA's block annotation (PDF)

Linked genes

Genes hit or close-by