1. Gene
  2. ERAP1 - endoplasmic reticulum aminopeptidase 1 Gene

ERAP1 - endoplasmic reticulum aminopeptidase 1 Gene

Homo sapiens

Also known as ALAP; A-LAP; ARTS1; ERAAP; APPILS; ARTS-1; ERAAP1; PILSAP; PILS-AP

Gene ID: 51752 | Gene type: protein coding

About ERAP1

Cytogenetic location: 5q15 Genomic coordinates (GRCh38): 5:96,760,813-96,935,854 (from NCBI)

This gene has 9 transcripts (splice variants), 228 orthologues, 11 paralogues and is associated with 1 phenotype. Ubiquitous expression in fat (RPKM 18.4), duodenum (RPKM 14.7) and 25 other tissues.

Summary

The protein encoded by this gene is an Aminopeptidase involved in trimming HLA class I-binding precursors so that they can be presented on MHC class I molecules. The encoded protein acts as a monomer or as a heterodimer with ERAP2. This protein may also be involved in blood pressure regulation by inactivation of angiotensin II. Three transcript variants encoding two different isoforms have been found for this gene.[provided by RefSeq, Oct 2010]

ERAP1 Products(4)

mRNA Protein Name
NM_001040458.3 NP_001035548.1 endoplasmic reticulum aminopeptidase 1 isoform b precursor
NM_001198541.3 NP_001185470.1 endoplasmic reticulum aminopeptidase 1 isoform b precursor
NM_001349244.2 NP_001336173.1 endoplasmic reticulum aminopeptidase 1 isoform a precursor
NM_016442.5 NP_057526.3 endoplasmic reticulum aminopeptidase 1 isoform a precursor

ERAP1 Protein Structure

Peptidase_M1

Peptidase_M1: Peptidase family M1 domain (53 - 441)

ERAP1_C

ERAP1_C: ERAP1-like C-terminal domain (597 - 916)

  • 0
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  • 941 a.a.
Protein Preferred Names Protein Names

endoplasmic reticulum aminopeptidase 1

adipocyte-derived leucine aminopeptidase

Related Diseases

Diseases Alias
Peeling Skin With Leukonychia, Acral Punctate Keratoses, Cheilitis, And Knuckle Pads

PLACK

Peeling Skin-Leukonychia-Acral Punctate Keratoses-Cheilitis-Knuckle Pads Syndrome

Plack Syndrome

Behcet Syndrome

Behcet Disease

Behcet'S Syndrome

Behcet'S Disease

Behçet Disease

Bd

Adamantiades-Behcet Disease

Triple Symptom Complex

Behçet'S Disease

Behet'S Syndrome

Bd Syndrome

Behçet Syndrome

Behçet'S Syndrome

Behcet Triple Symptom Complex

Malignant Aphthosis

Old Silk Route Disease

Adamantiades-Behçet Disease

Birdshot Chorioretinopathy

Birdshot Chorioretinitis

Bscr

Birdshot Retinochoroiditis

Birdshot Retinochoroidopathy

Vitiliginous Choroiditis

Multiple Small, Cream-Colored Lesions, Symmetrically Scattered Mainly Around The Optic Disk

Spondylitis
Juvenile Ankylosing Spondylitis
Anterior Uveitis

Iridocyclitis

Uveitis, Anterior

Acute Anterior Uveitis

Uveokeratitis

Keratouveitis

Cyclitis

Intraocular Inflammation

Kerato-Uveitis

Keratoiritis

Iritis

Uveitis Nos

Uveal Inflammation

Anterior Chamber Cell

Spondyloarthropathy

Spondylarthropathies

Spondarthropathy

Spondylarthrosis

Spondyloarthropathy, Susceptibility To

Spondylarthritis

Iritis
Enthesopathy

Rheumatism

Panuveitis

Diffuse Uveitis

Total Uveitis

Inflammation Of The Whole Uveal Tract

Posterior Uveitis

Uveitis, Posterior

Choroiditis

Uveitis Posterior

Spondyloarthropathy 1

Ankylosing Spondylitis

Spondyloarthropathy, Susceptibility To, 1

SPDA1

Marie-Strumpell Spondylitis

Bechterew Syndrome

Spa

Spondylarthritis Ankylopoietica

Reiter Syndrome

Ankylosing Spondylitis, Susceptibility To

Bekhterev Syndrome

Bekhterev'S Disease

Marie-Strumpell Disease

Axial Spondylarthritis

Bechterew Disease

Marie-Struempell Disease

Spondylitis Ankylopoietica

Spondyloarthritis

Spondyloarthritis Ankylopoietica

Spas

Ankylosing Spondylarthritis

Psoriatic Arthritis

Reactive Arthritis

Rheumatoid Spondylitis

Spondylitis Ankylosans

Spondylitis Ankylosing

Spondylitis, Ankylosing

Spondylarthropathies

Arthritis, Psoriatic

Arthritis, Reactive

Hypertension, Essential

Essential Hypertension

Hypertension

High Blood Pressure

Hypertension, Essential, Susceptibility To

Hypertensive Disease

Primary Hypertension

EHT

Hypertension, Salt-Sensitive Essential, Susceptibility To

Hyperpiesia

Idiopathic Hypertension

Hypertensive Disorder

Hypertension, Essential, Susceptibility To, 3

Hypertension, Essential 3

Hypertension, Essential, Salt-Sensitive

Hypertension, Essential, Susceptibility To, 6

Hypertension, Essential 6

Hypertension, Salt-Sensitive Essential

Hypertension, Susceptibility To

Hypertension, Essential, Susceptibility To, 4

Hypertension, Essential 4

Hypertension, Essential, Susceptibility To, 2

Hypertension, Essential 2

Hypertension, Essential, Susceptibility To, 1

Hypertension, Essential 1

Hypertension, Essential, Susceptibility To, 5

Hypertension, Essential 5

Htn

Vascular Hypertensive Disorder

Systemic Primary Arterial Hypertension

Hbp - [High Blood Pressure]

Systemic Arterial Hypertensive Disorder

Elevated Blood Pressure

Arterial Hypertension Nos

Hypertension Nos

Benign Hypertension

Systemic Arterial Hypertension

Systemic Hypertension

Artery Htn

Benign Htn

Vascular Htn

Vascular Hypertension

Cholesterol Hypertension

Cholesterol Htn

Idiopathic Htn

Malignant Hypertension

Malignant Htn

Raised Blood Pressure

Cardiovascular Hypertension

Primary Htn - [Hypertension]

High Arterial Tension

High Blood Pressure Disorder

Ht - [Hypertension]

Htn - [Hypertension]

Hypertensive Vascular Disease

Hypertensive Vascular Degeneration

Autoimmune Disease Of Cardiovascular System
Psoriasis 2

PSORS2

Psoriasis

Psoriasis Vulgaris

Pv

Psoriasis, Susceptibility To, Type 2

Ankylosis
Reactive Arthritis

Postdysenteric Arthropathy

Reiter Disease

Pira

Reiter Syndrome

Reiters Syndrome

Arthritis, Reactive

Fiessinger Leroy Reiter Syndrome

Post-Bacterial Arthropathy

Reiter'S Disease

Post-Infectious Arthritis

Post-Infectious Reactive Arthropathy

Reiter'S Syndrome

Arthritis Urethritica

Fiessinger-Leroy Disease

Polyarthritis Enterica

Venereal Arthritis

Arthritis Reactive

Post-Dysenteric Arthropathy

Arthritis, Venereal

Iridocyclitis

Primary Iridocyclitis

Hypopyon
Uveal Disease

Uveal Diseases

Autoimmune Disease Of Skin And Connective Tissue
Diseases Alias
Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Orthologs Information

Species Symbol Source ID
Mus musculus ERAP1 MGD MGI:1933403
Canis familiaris ERAP1 VGNC VGNC:40433
Felis catus ERAP1 VGNC VGNC:61926
Bos taurus ERAP1 VGNC VGNC:28560
Macaca mulatta ERAP1 VGNC VGNC:72066
Rattus norvegicus ERAP1 RGD RGD:708542