ERAP1 (endoplasmic reticulum aminopeptidase 1)

2003-06-01  

Identity

HGNC
ERAP1
LOCATION
5q15
LOCUSID
51752
ALIAS
A-LAP,ALAP,APPILS,ARTS-1,ARTS1,ERAAP,ERAAP1,PILS-AP,PILSAP

Other Information

Locus ID:

NCBI: 51752
MIM: 606832
HGNC: 18173
Ensembl: ENSG00000164307

Variants:

dbSNP: 51752
ClinVar: 51752
TCGA: ENSG00000164307
COSMIC: ERAP1

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000164307ENST00000296754Q9NZ08
ENSG00000164307ENST00000443439Q9NZ08
ENSG00000164307ENST00000507154D6RAL9
ENSG00000164307ENST00000508227A0A1D5RMR7
ENSG00000164307ENST00000512852H0Y9X5

Expression (GTEx)

0
5
10
15
20
25
30
35
40
45
50
Adipose - Subcutaneous
Adipose - Visceral
Adrenal Gland
Artery - Aorta
Artery - Tibial
Bladder
Brain - Amygdala
Brain - Anterior cingulate cortex
Brain - Caudate
Brain - Cerebellar Hemisphere
Brain - Cerebellum
Brain - Cortex
Brain - Frontal Cortex
Brain - Hippocampus
Brain - Hypothalamus
Brain - Nucleus accumbens
Brain - Putamen
Brain - Spinal cord
Brain - Substantia nigra
Breast - Mammary Tissue
Cells - Cultured fibroblasts
Cells - EBV - transformed lymphocytes
Cervix - Ectocervix
Cervix - Endocervix
Colon - Sigmoid
Colon - Transverse
Esophagus - Gastroesophageal Junction
Esophagus - Mucosa
Esophagus - Muscularis
Fallopian Tube
Heart - Atrial Appendage
Heart - Left Ventricle
Kidney - Cortex
Kidney - Medulla
Liver
Lung
Minor Salivary Gland
Muscle - Skeletal
Nerve - Tibial
Ovary
Pancreas
Pituitary
Prostate
Skin - Not Sun Exposed
Skin - Sun Exposed
Small Intestine - Terminal Ileum
Spleen
Stomach
Testis
Thyroid
Uterus
Vagina
Whole Blood

Pathways

PathwaySourceExternal ID
Immune SystemREACTOMER-HSA-168256
Adaptive Immune SystemREACTOMER-HSA-1280218
Class I MHC mediated antigen processing & presentationREACTOMER-HSA-983169
Antigen Presentation: Folding, assembly and peptide loading of class I MHCREACTOMER-HSA-983170

Protein levels (Protein atlas)

Not detected
Low
Medium
High
cerebral cortex
cerebellum
hippocampus
caudate
thyroid gland
parathyroid gland
adrenal gland
nasopharynx
bronchus
lung
oral mucosa
salivary gland
esophagus
stomach 1
stomach 2
duodenum
small intestine
colon
rectum
liver
gallbladder
pancreas
kidney
urinary bladder
testis
epididymis
seminal vesicle
prostate
vagina
ovary
fallopian tube
endometrium 1
endometrium 2
cervix, uterine
placenta
breast
heart muscle
smooth muscle
skeletal muscle
soft tissue 1
soft tissue 2
adipose tissue
skin 1
skin 2
appendix
spleen
lymph node
tonsil
bone marrow

References

Pubmed IDYearTitleCitations
179520732007Association scan of 14,500 nonsynonymous SNPs in four diseases identifies autoimmunity variants.428
209531902010A genome-wide association study identifies new psoriasis susceptibility loci and an interaction between HLA-C and ERAP1.309
209531902010A genome-wide association study identifies new psoriasis susceptibility loci and an interaction between HLA-C and ERAP1.309
200620622010Genome-wide association study of ankylosing spondylitis identifies non-MHC susceptibility loci.162
159089542005Concerted peptide trimming by human ERAP1 and ERAP2 aminopeptidase complexes in the endoplasmic reticulum.141
124361102002The ER aminopeptidase ERAP1 enhances or limits antigen presentation by trimming epitopes to 8-9 residues.137
123688562002ERAAP customizes peptides for MHC class I molecules in the endoplasmic reticulum.133
232915872013Genome-wide association analysis identifies new susceptibility loci for Behçet's disease and epistasis between HLA-B*51 and ERAP1.119
162866532005The ER aminopeptidase, ERAP1, trims precursors to lengths of MHC class I peptides by a "molecular ruler" mechanism.88
199131212009Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip.85

Citation

Dessen P

ERAP1 (endoplasmic reticulum aminopeptidase 1)

Atlas Genet Cytogenet Oncol Haematol. 2003-06-01

Online version: http://atlasgeneticsoncology.org/gene/710/erap1