Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.	51752
Gene name Gene Name - the full gene name approved by the HGNC.	Endoplasmic reticulum aminopeptidase 1
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.	ERAP1
Synonyms (NCBI Gene) Gene synonyms aliases	A-LAP, ALAP, APPILS, ARTS-1, ARTS1, ERAAP, ERAAP1, PILS-AP, PILSAP
Chromosome Chromosome number	5
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.	5q15
Summary Summary of gene provided in NCBI Entrez Gene.	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 b

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miRTarBase ID	miRNA	Experiments	Reference
MIRT019189	hsa-miR-335-5p	Microarray	18185580
MIRT030332	hsa-miR-26b-5p	Microarray	19088304
MIRT049298	hsa-miR-92a-3p	CLASH	23622248
MIRT440714	hsa-miR-106b-5p	HITS-CLIP	22473208
MIRT440712	hsa-miR-20a-5p	HITS-CLIP	22473208
MIRT440714	hsa-miR-106b-5p	HITS-CLIP	22473208
MIRT727750	hsa-miR-17-5p	HITS-CLIP	22473208
MIRT727751	hsa-miR-20b-5p	HITS-CLIP	22473208
MIRT727749	hsa-miR-93-5p	HITS-CLIP	22473208
MIRT727748	hsa-miR-519d-3p	HITS-CLIP	22473208
MIRT440712	hsa-miR-20a-5p	HITS-CLIP	22473208
MIRT967725	hsa-miR-1253	CLIP-seq
MIRT967726	hsa-miR-3119	CLIP-seq
MIRT967727	hsa-miR-3163	CLIP-seq
MIRT967728	hsa-miR-3662	CLIP-seq
MIRT967729	hsa-miR-1256	CLIP-seq
MIRT967730	hsa-miR-1270	CLIP-seq
MIRT967731	hsa-miR-140-3p	CLIP-seq
MIRT967732	hsa-miR-143	CLIP-seq
MIRT967733	hsa-miR-181a	CLIP-seq
MIRT967734	hsa-miR-181b	CLIP-seq
MIRT967735	hsa-miR-181c	CLIP-seq
MIRT967736	hsa-miR-181d	CLIP-seq
MIRT967737	hsa-miR-218	CLIP-seq
MIRT967738	hsa-miR-323-3p	CLIP-seq
MIRT967739	hsa-miR-4262	CLIP-seq
MIRT967740	hsa-miR-4289	CLIP-seq
MIRT967741	hsa-miR-4428	CLIP-seq
MIRT967742	hsa-miR-4534	CLIP-seq
MIRT967743	hsa-miR-4683	CLIP-seq
MIRT967744	hsa-miR-4699-3p	CLIP-seq
MIRT967745	hsa-miR-4770	CLIP-seq
MIRT967746	hsa-miR-4775	CLIP-seq
MIRT967747	hsa-miR-4786-5p	CLIP-seq
MIRT967748	hsa-miR-4789-5p	CLIP-seq
MIRT967749	hsa-miR-4795-3p	CLIP-seq
MIRT967750	hsa-miR-590-3p	CLIP-seq
MIRT967751	hsa-miR-620	CLIP-seq
MIRT967752	hsa-miR-656	CLIP-seq
MIRT967753	hsa-miR-889	CLIP-seq
MIRT2524909	hsa-miR-1294	CLIP-seq
MIRT2524910	hsa-miR-136	CLIP-seq
MIRT2524911	hsa-miR-1827	CLIP-seq
MIRT2524912	hsa-miR-4274	CLIP-seq
MIRT2524913	hsa-miR-4282	CLIP-seq
MIRT2524914	hsa-miR-4310	CLIP-seq
MIRT2524915	hsa-miR-4316	CLIP-seq
MIRT2524916	hsa-miR-4519	CLIP-seq
MIRT2524917	hsa-miR-4661-5p	CLIP-seq
MIRT2524918	hsa-miR-4666-5p	CLIP-seq
MIRT2524919	hsa-miR-4677-3p	CLIP-seq
MIRT967744	hsa-miR-4699-3p	CLIP-seq
MIRT2524920	hsa-miR-485-3p	CLIP-seq
MIRT2524921	hsa-miR-515-5p	CLIP-seq
MIRT2524922	hsa-miR-548b-3p	CLIP-seq
MIRT2524923	hsa-miR-668	CLIP-seq
MIRT2524924	hsa-miR-936	CLIP-seq
MIRT2524925	hsa-miR-944	CLIP-seq
MIRT2524909	hsa-miR-1294	CLIP-seq
MIRT2524910	hsa-miR-136	CLIP-seq
MIRT2524911	hsa-miR-1827	CLIP-seq
MIRT2524913	hsa-miR-4282	CLIP-seq
MIRT2524915	hsa-miR-4316	CLIP-seq
MIRT2524918	hsa-miR-4666-5p	CLIP-seq
MIRT2524919	hsa-miR-4677-3p	CLIP-seq
MIRT967744	hsa-miR-4699-3p	CLIP-seq
MIRT2524921	hsa-miR-515-5p	CLIP-seq
MIRT2524925	hsa-miR-944	CLIP-seq

Transcription factors

Show/Hide all(2)

Transcription factor	Regulation	Reference
NFKB1	Unknown	20103633
RELA	Unknown	20103633

Show/Hide all(46)

GO ID	Ontology	Definition	Evidence	Reference
GO:0001525	Process	Angiogenesis	TAS	15691326
GO:0002250	Process	Adaptive immune response	IEA
GO:0002376	Process	Immune system process	IEA
GO:0002474	Process	Antigen processing and presentation of peptide antigen via MHC class I	TAS
GO:0002502	Process	Peptide antigen assembly with MHC class I protein complex	IDA	36104323
GO:0004175	Function	Endopeptidase activity	EXP	12436109, 12436110, 17088086
GO:0004177	Function	Aminopeptidase activity	IDA	10220586, 12748171
GO:0004177	Function	Aminopeptidase activity	IEA
GO:0005138	Function	Interleukin-6 receptor binding	IPI	12748171
GO:0005151	Function	Interleukin-1, type II receptor binding	TAS	15691326
GO:0005515	Function	Protein binding	IPI	15908954, 18445477
GO:0005576	Component	Extracellular region	IDA	11056387
GO:0005615	Component	Extracellular space	HDA	16502470
GO:0005737	Component	Cytoplasm	IEA
GO:0005783	Component	Endoplasmic reticulum	IEA
GO:0005783	Component	Endoplasmic reticulum	NAS	12748171
GO:0005788	Component	Endoplasmic reticulum lumen	TAS	15691326
GO:0005789	Component	Endoplasmic reticulum membrane	IEA
GO:0005829	Component	Cytosol	NAS	10220586
GO:0006508	Process	Proteolysis	IBA
GO:0006508	Process	Proteolysis	IEA
GO:0006508	Process	Proteolysis	IEA
GO:0006509	Process	Membrane protein ectodomain proteolysis	IDA	12748171
GO:0008217	Process	Regulation of blood pressure	IEA
GO:0008217	Process	Regulation of blood pressure	NAS	11056387
GO:0008217	Process	Regulation of blood pressure	TAS	15691326
GO:0008233	Function	Peptidase activity	IEA
GO:0008235	Function	Metalloexopeptidase activity	IDA	10220586
GO:0008237	Function	Metallopeptidase activity	IEA
GO:0008270	Function	Zinc ion binding	IEA
GO:0008270	Function	Zinc ion binding	NAS	10220586
GO:0009617	Process	Response to bacterium	NAS	16034137
GO:0016020	Component	Membrane	HDA	19946888
GO:0016020	Component	Membrane	IEA
GO:0016020	Component	Membrane	NAS	12748171
GO:0016787	Function	Hydrolase activity	IEA
GO:0019885	Process	Antigen processing and presentation of endogenous peptide antigen via MHC class I	IEA
GO:0019885	Process	Antigen processing and presentation of endogenous peptide antigen via MHC class I	NAS	12748171
GO:0019885	Process	Antigen processing and presentation of endogenous peptide antigen via MHC class I	TAS	15691326
GO:0043171	Process	Peptide catabolic process	IBA
GO:0045088	Process	Regulation of innate immune response	NAS	12748171
GO:0045444	Process	Fat cell differentiation	NAS	11056387
GO:0045766	Process	Positive regulation of angiogenesis	IEA
GO:0046872	Function	Metal ion binding	IEA
GO:0070006	Function	Metalloaminopeptidase activity	IBA
GO:0070062	Component	Extracellular exosome	HDA	19199708

MIM	HGNC	e!Ensembl
606832	18173	ENSG00000164307

Protein

UniProt ID

Q9NZ08

Protein name

Endoplasmic reticulum aminopeptidase 1 (EC 3.4.11.-) (ARTS-1) (Adipocyte-derived leucine aminopeptidase) (A-LAP) (Aminopeptidase PILS) (Puromycin-insensitive leucyl-specific aminopeptidase) (PILS-AP) (Type 1 tumor necrosis factor receptor shedding aminope

Protein function

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 require

PDB

2YD0 , 3MDJ , 3QNF , 3RJO , 5J5E , 6M8P , 6MGQ , 6Q4R , 6RQX , 6RYF , 6T6R , 7MWB , 7MWC , 7Z28 , 9GJN , 9GJS , 9GK6 , 9GKE

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF17900	Peptidase_M1_N	59 → 246		Domain
PF01433	Peptidase_M1	281 → 524	Peptidase family M1 domain	Domain
PF11838	ERAP1_C	597 → 917	ERAP1-like C-terminal domain	Domain

Tissue specificity

TISSUE SPECIFICITY: Ubiquitous.

Sequence

MVFLPLKWSLATMSFLLSSLLALLTVSTPSWCQSTEASPKRSDGTPFPWNKIRLPEYVIP
VHYDLLIHANLTTLTFWGTTKVEITASQPTSTIILHSHHLQISRATLRKGAGERLSEEPL
QVLEHPRQEQIALLAPEPLLVGLPYTVVIHYAGNLSETFHGFYKSTYRTKEGELRILAST
QFEPTAARMAFPCFDEPAFKASFSIKIRREPRHLAISNMPLVKSVTVAEGLIEDHFDVTV
KMSTYLVAFIISDFESVSKITKSGVKVSVYAVPDKINQADYALDAAVTLLEFYEDYFSIP
YPLPKQDLAAIPDFQSGAMENWGLTTYRESALLFDAEKSSASSKLGITMTVAHELAHQWF
GNLVTMEWWNDLWLNEGFAKFMEFVSVSVTHPELKVGDYFFGKCFDAMEVDALNSSHPVS
TPVENPAQIREMFDDVSYDKGACILNMLREYLSADAFKSGIVQYLQKHSYKNTKNEDLWD
SMASICPTDGVKGMDGFCSRSQHSSSSSHWHQEGVDVKTMMNTWTLQKGFPLITITVRGR
NVHMKQEHYMKGSDGAPDTGYLWHVPLTFITSKSDMVHRFLLKTKTDVLILPEEVEWIKF
NVGMNGYYIVHYEDDGWDSLTGLLKGTHTAVSSNDRASLINNAFQLVSIGKLSIEKALDL
SLYLKHETEIMPVFQGLNELIPMYKLMEKRDMNEVETQFKAFLIRLLRDLIDKQTWTDEG
SVSERMLRSQLLLLACVHNYQPCVQRAEGYFRKWKESNGNLSLPVDVTLAVFAVGAQSTE
GWDFLYSKYQFSLSSTEKSQIEFALCRTQNKEKLQWLLDESFKGDKIKTQEFPQILTLIG
RNPVGYPLAWQFLRKNWNKLVQKFELGSSSIAHMVMGTTNQFSTRTRLEEVKGFFSSLKE
NGSQLRCVQQTIETIEENIGWMDKNFDKIRVWLQSEKLERM

Sequence length

941

Interactions

View interactions

	Reactome
			Antigen Presentation: Folding, assembly and peptide loading of class I MHC

Show/Hide Unknown Diseases (8)

Disease merge term	Disease name	Evidence	References	Source
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Ankylosing Spondylitis	Ankylosing spondylitis	N/A	N/A	GWAS
Colorectal Cancer	Colorectal cancer	N/A	N/A	GWAS
Frontal Fibrosing Alopecia	Frontal fibrosing alopecia	N/A	N/A	GWAS
Hypertension	Hypertension	N/A	N/A	GWAS
Long QT Syndrome	long qt syndrome	N/A	N/A	ClinVar
Psoriasis	Psoriasis	N/A	N/A	GWAS
Psoriasis vulgaris	Psoriasis vulgaris	N/A	N/A	GWAS
Uveitis	Uveitis, Anterior uveitis	N/A	N/A	GWAS

Show/Hide Text Mining Associations (56)

Disease Name	Relationship Type	References
Associations from Text Mining Disease associations identified through Pubtator
Ankylosis	Associate	21574996
Arthritis Juvenile	Associate	21281511
Arthritis Psoriatic	Associate	22298274, 28083616, 34580106
Arthritis Psoriatic	Stimulate	33452865
Asthma	Associate	22286212
Autoimmune Diseases	Associate	21242517, 23733883, 31841350, 34580106
Bare Lymphocyte Syndrome Type I	Associate	28651467, 34580106
Behcet Syndrome	Associate	25019531, 25892735, 26890122, 27217550, 28446606, 28651467, 29017598, 30514861, 30769005, 31092671, 32023277, 32161166, 33617882, 34580106, 35922122, 37003592 View all (1 more)
Birdshot Chorioretinopathy	Associate	25892735, 34727153
Bone Diseases Metabolic	Associate	21424381
Breast Neoplasms	Associate	39261450
Carcinoma Endometrioid	Associate	14654715, 15741767
Carcinoma Non Small Cell Lung	Associate	28083613, 33651148, 34149699, 37101107
Carcinoma Renal Cell	Associate	23696916
Carcinoma Squamous Cell	Associate	23024775
CD59 Deficiency	Associate	25019531, 34580106
Choriocarcinoma	Associate	14691298
Chronic Disease	Associate	21508329, 33617882
COVID 19	Associate	34688668, 35927536
Crohn Disease	Associate	22253828
Diabetic Retinopathy	Associate	38194422
Drug Hypersensitivity Syndrome	Associate	32173028
Eclampsia	Associate	33762660
Endometrial Neoplasms	Associate	14654715, 15741767
Epstein Barr Virus Infections	Associate	16585582
Essential Hypertension	Associate	13678427, 16513116, 19578876
Graves Ophthalmopathy	Associate	40065401
Heart Diseases	Associate	30514861
Hepatitis C	Associate	30769005
Hereditary Autoinflammatory Diseases	Associate	28446606, 30769005
Hereditary leiomyomatosis and renal cell cancer	Associate	37372322
Hodgkin Disease	Associate	22286212, 37372322
Hypertension	Associate	16513116
Hypertrophy Left Ventricular	Associate	13678427
Inflammation	Associate	12748171, 19578876, 25892735, 30646942, 33617882, 38194422
Inflammatory Bowel Diseases	Associate	19877036, 27458846, 28651467
Lung Neoplasms	Associate	40311306
Malaria	Associate	30740100
Melanoma	Inhibit	20419298
Melanoma	Associate	26399368, 31222486
Mucocutaneous Lymph Node Syndrome	Associate	21326860
Multiple Sclerosis	Associate	22253828
Neoplasms	Associate	14691298, 16585582, 17622526, 26146606, 28083613, 31151965, 31222486, 34149699, 34917091, 35655316, 40189142
Neoplasms	Inhibit	37101107
Pre Eclampsia	Associate	19578876, 24331737, 26010865, 32210971
Psoriasis	Associate	19877036, 21508329, 22286212, 22298274, 22622420, 25892735, 28083616, 31577850, 33452865, 34580106, 39261450
Renal Insufficiency	Associate	34745129
Rheumatic Diseases	Associate	33617882
Spondylitis	Associate	22253828
Spondylitis Ankylosing	Associate	17952073, 19404951, 19692350, 19877036, 20062062, 20463747, 21508329, 21574996, 21743469, 22034108, 22632381, 22918227, 23264405, 24028501, 24352655 View all (20 more)
Spondylitis Ankylosing	Stimulate	39185422
Trophoblastic Neoplasms	Associate	14691298
Uterine Cervical Dysplasia	Inhibit	23024775
Uterine Cervical Neoplasms	Associate	17622526, 23733883, 25796583, 26146606, 32321463
Uterine Cervical Neoplasms	Inhibit	32321463
Uveitis Anterior	Associate	25200001, 32492107

ERAP1 (endoplasmic reticulum aminopeptidase 1)