HelmholtzZentrum munich
WCMC

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

ONLINE SUPPLEMENTARY INFORMATION

Ideogram
Proteome annotation
Locus annotations

Locus 290

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 rs6556937 5:95,985,282 C/T 0.15 990 0.479 0.061 8.4×10-15 1.220 7×10-14 1.2×10-14
ARTS1 cis Replication rs26483 5:96,016,616 G/A 0.29 337 0.257 0.075 0.001 1.070 0.084 0.001

 

Regional association plots

Endoplasmic reticulum aminopeptidase 1 (ARTS1)

 

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 (rs6556937).
Download the detailed results of SNiPA's block annotation (PDF)

Linked genes

Genes hit or close-by
eQTL genes

 

Results from other genome-wide association studies

Trait P Study Source
Gene expression of CAST in peripheral blood monocytes 2.2×10-11 20502693 (PMID) GRASP2 eQTL
Gene expression of CAST in CEU-CHB-JPT lymphoblastoid cell lines 3.2×10-11 17873874 (PMID) GRASP2 eQTL