ENSG00000164307


Homo sapiens

Features
Gene ID: ENSG00000164307
  
Biological name :ERAP1
  
Synonyms : endoplasmic reticulum aminopeptidase 1 / ERAP1 / Q9NZ08
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: 5
Strand: -1
Band: q15
Gene start: 96760810
Gene end: 96808100
  
Corresponding Affymetrix probe sets: 209701_at (Human Genome U133 Plus 2.0 Array)   209788_s_at (Human Genome U133 Plus 2.0 Array)   210385_s_at (Human Genome U133 Plus 2.0 Array)   214012_at (Human Genome U133 Plus 2.0 Array)   214034_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000422631
Ensembl peptide - ENSP00000421697
Ensembl peptide - ENSP00000425381
Ensembl peptide - ENSP00000427025
Ensembl peptide - ENSP00000296754
Ensembl peptide - ENSP00000406304
NCBI entrez gene - 51752     See in Manteia.
OMIM - 606832
RefSeq - XM_017009583
RefSeq - XM_011543480
RefSeq - XM_011543481
RefSeq - XM_011543484
RefSeq - XM_011543485
RefSeq - XM_011543486
RefSeq - XM_017009580
RefSeq - XM_017009581
RefSeq - XM_017009582
RefSeq - NM_001040458
RefSeq - NM_001198541
RefSeq - NM_001349244
RefSeq - NM_016442
RefSeq - XM_005272015
RefSeq - XM_005272016
RefSeq Peptide - NP_001336173
RefSeq Peptide - NP_057526
RefSeq Peptide - NP_001035548
RefSeq Peptide - NP_001185470
swissprot - Q9NZ08
swissprot - H0Y9X5
swissprot - D6RAL9
swissprot - A0A1D5RMR7
Ensembl - ENSG00000164307
  
See expression report in BioGPS
See gene description in Wikigenes
See gene description in GeneCards
See co-cited genes in PubMed


Ortholog prediction (from Ensembl)
Ortholog nameID Species
 erap1aENSDARG00000013024Danio rerio
 erap1bENSDARG00000021859Danio rerio
 ERAP1ENSGALG00000014684Gallus gallus
 Erap1ENSMUSG00000021583Mus musculus


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
ERAP2 / Q6P179 / endoplasmic reticulum aminopeptidase 2ENSG0000016430850
LNPEP / Q9UIQ6 / leucyl and cystinyl aminopeptidaseENSG0000011344144
ENPEP / Q07075 / glutamyl aminopeptidaseENSG0000013879232
ANPEP / P15144 / alanyl aminopeptidase, membraneENSG0000016682531
TRHDE / Q9UKU6 / thyrotropin releasing hormone degrading enzymeENSG0000007265730
NPEPPS / P55786 / aminopeptidase puromycin sensitiveENSG0000014127930
LVRN / Q6Q4G3 / laeverinENSG0000017290128


Protein motifs (from Interpro)
Interpro ID Name
 IPR001930  Peptidase M1, alanine aminopeptidase/leukotriene A4 hydrolase
 IPR014782  Peptidase M1, membrane alanine aminopeptidase, N-terminal
 IPR024571  ERAP1-like C-terminal domain
 IPR033520  Endoplasmic reticulum aninopeptidase 1
 IPR034016  Aminopeptidase N-type


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0001525 angiogenesis TAS
 biological_processGO:0002250 adaptive immune response IEA
 biological_processGO:0002376 immune system process IEA
 biological_processGO:0002474 antigen processing and presentation of peptide antigen via MHC class I TAS
 biological_processGO:0006508 proteolysis IEA
 biological_processGO:0006509 membrane protein ectodomain proteolysis IDA
 biological_processGO:0007165 signal transduction IBA
 biological_processGO:0007267 cell-cell signaling IBA
 biological_processGO:0008217 regulation of blood pressure IEA
 biological_processGO:0009617 response to bacterium NAS
 biological_processGO:0019885 antigen processing and presentation of endogenous peptide antigen via MHC class I IEA
 biological_processGO:0043171 peptide catabolic process IBA
 biological_processGO:0045088 regulation of innate immune response NAS
 biological_processGO:0045444 fat cell differentiation NAS
 biological_processGO:0045766 positive regulation of angiogenesis IEA
 cellular_componentGO:0005576 extracellular region IDA
 cellular_componentGO:0005615 extracellular space HDA
 cellular_componentGO:0005737 cytoplasm IEA
 cellular_componentGO:0005783 endoplasmic reticulum NAS
 cellular_componentGO:0005788 endoplasmic reticulum lumen TAS
 cellular_componentGO:0005789 endoplasmic reticulum membrane IEA
 cellular_componentGO:0005829 cytosol NAS
 cellular_componentGO:0005886 plasma membrane IBA
 cellular_componentGO:0016020 membrane IEA
 cellular_componentGO:0016021 integral component of membrane NAS
 cellular_componentGO:0070062 extracellular exosome HDA
 molecular_functionGO:0004175 endopeptidase activity EXP
 molecular_functionGO:0004177 aminopeptidase activity IEA
 molecular_functionGO:0005138 interleukin-6 receptor binding IPI
 molecular_functionGO:0005151 interleukin-1, type II receptor binding TAS
 molecular_functionGO:0005515 protein binding IPI
 molecular_functionGO:0008233 peptidase activity IEA
 molecular_functionGO:0008235 metalloexopeptidase activity IDA
 molecular_functionGO:0008237 metallopeptidase activity IEA
 molecular_functionGO:0008270 zinc ion binding IBA
 molecular_functionGO:0016787 hydrolase activity IEA
 molecular_functionGO:0042277 peptide binding IBA
 molecular_functionGO:0046872 metal ion binding IEA
 molecular_functionGO:0070006 metalloaminopeptidase activity IEA


Pathways (from Reactome)
Pathway description
Antigen Presentation: Folding, assembly and peptide loading of class I MHC


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
 HP:0000083 Renal failure 
Show

 HP:0000155 Oral ulcers 
Show

 HP:0000488 Retinopathy 
Show

 HP:0000518 Cataract "A cataract is an opacity or clouding that develops in the crystalline `lens` (FMA:58241) of the eye or in its `capsule` (FMA:58881)." [HPO:probinson]
Show

 HP:0000613 Photophobia "Excessive sensitivity to light with the sensation of discomfort or pain in the eyes due to exposure to bright light." [HPO:curators]
Show

 HP:0000618 Blindness 
Show

 HP:0000737 Irritability 
Show

 HP:0001061 Acne 
Show

 HP:0001097 Keratoconjunctivitis sicca "Dryness of the eye related to deficiency of the tear film components (aqueous, mucin, or lipid), lid surface abnormalities, or epithelial abnormalities. Keratoconjunctivitis sicca often results in a scratchy or sandy sensation (foreign body sensation) in the eyes, and may also be associated with itching, inability to produce tears, photosensitivity, redness, pain, and difficulty in moving the eyelids." [HPO:curators]
Show

 HP:0001250 Seizures "Seizures are an intermittent `abnormality of the central nervous system` (FMA:HP:0002011) due to a sudden, excessive, disorderly discharge of cerebral neurons and characterized clinically by some combination of disturbance of sensation, loss of consciousness, impairment of psychic function, or convulsive movements." [HPO:probinson]
Show

 HP:0001251 Ataxia "Ataxia is a nonspecific neurological sign and symptom consisting of gross lack of coordination of muscle movements. Ataxia is caused by dysfunction of one or more parts of the nervous system including the cerebellum, the sensory nervous system, the vestibular system, or the cerebral cortex." [HPO:curators]
Show

 HP:0001269 Hemiparesis "Relatively mild weakness in the arm, leg, and in some cases the face on one side of the body." [HPO:curators]
Show

 HP:0001287 Meningitis 
Show

 HP:0001288 Gait disturbance "The term gait disturbance can refer to any disruption of the ability to walk. In general, this can refer to neurological diseases but also fractures or other sources of pain that is triggered upon walking. However, in the current context gait disturbance refers to difficulty walking on the basis of a neurological or muscular disease." [HPO:curators]
Show

 HP:0001289 Confusion "Lack of clarity and coherence of thought, perception, understanding, or action." [HPO:curators]
Show

 HP:0001347 Hyperreflexia "The presence of overactive or overresponsive reflexes." [HPO:curators]
Show

 HP:0001369 Arthritis 
Show

 HP:0001482 Subcutaneous nodules 
Show

 HP:0001637 Abnormality of the myocardium 
Show

 HP:0001653 Mitral regurgitation "An `abnormality of the mitral valve` (HP:0001633) characterized by insufficiency or incompetence of the mitral valve resulting in retrograde leaking of blood through the mitral valve upon ventricular contraction." [HPO:probinson]
Show

 HP:0001658 Myocardial infarction 
Show

 HP:0001659 Aortic insufficiency "An insufficiency of the aortic valve, leading to regurgitation (backward flow) of blood from the aorta into the left ventricle." [HPO:curators]
Show

 HP:0001701 Pericarditis 
Show

 HP:0001733 Pancreatitis 
Show

 HP:0001744 Splenomegaly "An abnormal enlargement of the spleen." [HPO:curators]
Show

 HP:0001824 Weight loss 
Show

 HP:0001945 Fever 
Show

 HP:0002017 Nausea and vomiting 
Show

 HP:0002024 Malabsorption 
Show

 HP:0002027 Abdominal pain 
Show

 HP:0002039 Anorexia 
Show

 HP:0002076 Migraine 
Show

 HP:0002102 Pleuritis "Inflammation of the pleura." [HPO:sdoelken]
Show

 HP:0002105 Hemoptysis "Coughing up (expectoration) of blood or blood-streaked sputum from the larynx, trachea, bronchi, or lungs." [HPO:curators]
Show

 HP:0002113 Pulmonary infiltrates 
Show

 HP:0002202 Pleural effusion "The presence of an excessive amount of fluid in the pleural cavity." [HPO:curators]
Show

 HP:0002204 Pulmonary embolism 
Show

 HP:0002239 Gastrointestinal hemorrhage 
Show

 HP:0002321 Vertigo "An abnormal sensation of spinning while the body is actually stationary." [HPO:curators]
Show

 HP:0002354 Memory impairment 
Show

 HP:0002376 Developmental regression 
Show

 HP:0002383 Encephalitis 
Show

 HP:0002516 Increased intracranial pressure 
Show

 HP:0002633 Vasculitis 
Show

 HP:0002637 Cerebral ischemia 
Show

 HP:0002716 Lymphadenopathy 
Show

 HP:0002829 Arthralgia 
Show

 HP:0003326 Myalgia "A tendency to experience muscle pain." [HPO:curators]
Show

 HP:0003401 Paresthesia "Abnormal sensations such as tingling, pricking, or numbness of the skin with no apparent physical cause." [HPO:curators]
Show

 HP:0004420 Arterial thrombosis 
Show

 HP:0004936 Venous thrombosis 
Show

 HP:0006824 Cranial nerve paralysis 
Show

 HP:0007256 Mild pyramidal signs 
Show

 HP:0008066 Abnormal blistering of the skin 
Show

 HP:0010885 Aseptic necrosis "A disease where there is cellular death (necrosis) of bone components due to interruption of the blood supply." [HPO:sdoelken]
Show

 HP:0011107 Recurrent aphthous stomatitis "Recurrent episodes of ulceration of the oral mucosa." [HPO:probinson]
Show

 HP:0012378 Fatigue "A subjective feeling of tiredness characterized by a lack of energy and motivation." [HPO:probinson]
Show

 HP:0100326 Immunologic hypersensitivity 
Show

 HP:0100584 Endocarditis "An inflammation of the endocardium, the inner layer of the heart, which usually involves the heart valves." [HPO:sdoelken]
Show

 HP:0100614 Myositis "A general term for inflammation of the muscles without respect to the underlying cause." [HPO:sdoelken]
Show

 HP:0100654 Retrobulbar optic neuritis "`Optic neuritis`(HP:0100653) that occurs in the section of the optic nerve located behind the eyebal." [HPO:sdoelken]
Show

 HP:0100758 Gangrene "A serious and potentially life-threatening condition that arises when a considerable mass of body tissue dies (necrosis)." [ISBN:9780781770873]
Show

 HP:0100796 Orchitis "Testicular inflammation." [HPO:sdoelken]
Show

 HP:0100820 Glomerulopathy "Inflammatory or noninflammatory diseases affecting the glomeruli of the nephron." [HPO:sdoelken]
Show

 HP:0200034 skin papules "A circumscribed, solid elevation of skin with no visible fluid, varying in size from a pinhead to less than 10mm in diameter at the widest point." [HPO:SKOEHLER]
Show

  


Interacting proteins (from Reactome)
Interactor ID Name Interaction type
No match






 

0 s.

 
External programs and data are copyrighted by and are the property of their respective authors.
The Manteia system, data and analyses are provided "as is" with no warranties, expressed or implied as to capabilities or accuracy. User assumes the entire risk as to the results and performance of the software, data and documentation


                   


© Olivier Tassy / Olivier Pourquie 2007-2024
contact: otassy@igbmc.fr