• Gene id: 51752

Gene Summary

• Gene Symbol: ERAP1   Gene   UCSC   Ensembl
• Aliases: A-LAP, ALAP, APPILS, ARTS-1, ARTS1, ERAAP, ERAAP1, PILS-AP, PILSAP
• Gene name: endoplasmic reticulum aminopeptidase 1
• Alternate names: endoplasmic reticulum aminopeptidase 1, CTD-2260A17.2, adipocyte-derived leucine aminopeptidase, aminopeptidase PILS, aminopeptidase regulator of TNFR1 shedding, endoplasmic reticulum aminopeptidase 1 delta-Exon-11 isoform, endoplasmic reticulum aminopeptidase ,
• Gene location: 5q15 (96935982: 96760272)     Exons: 27     NC_000005.10
• Gene summary(Entrez): 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
• OMIM: 606832

SNPs

rs11135484

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000005.10   g.96886185A>G
NC_000005.9   g.96221889A>G
NG_027839.2   g.54799T>C
NG_051092.1   g.15247A>G|SEQ=[A/G]|GENE=ERAP1
ERAP2   64167

rs11135482

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000005.10   g.96885722G>A
NC_000005.9   g.96221426G>A
NG_027839.2   g.55262C>T
NG_051092.1   g.14784G>A|SEQ=[G/A]|GENE=ERAP1
ERAP2   64167

Protein Summary

• Protein general information: Q9NZ08  
  • 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
  • Length: 941  
  • Mass: 107235
  • Tissue specificity: Ubiquitous.
• Sequence:

  MVFLPLKWSLATMSFLLSSLLALLTVSTPSWCQSTEASPKRSDGTPFPWNKIRLPEYVIPVHYDLLIHANLTTLT
  FWGTTKVEITASQPTSTIILHSHHLQISRATLRKGAGERLSEEPLQVLEHPRQEQIALLAPEPLLVGLPYTVVIH
  YAGNLSETFHGFYKSTYRTKEGELRILASTQFEPTAARMAFPCFDEPAFKASFSIKIRREPRHLAISNMPLVKSV
  TVAEGLIEDHFDVTVKMSTYLVAFIISDFESVSKITKSGVKVSVYAVPDKINQADYALDAAVTLLEFYEDYFSIP
  YPLPKQDLAAIPDFQSGAMENWGLTTYRESALLFDAEKSSASSKLGITMTVAHELAHQWFGNLVTMEWWNDLWLN
  EGFAKFMEFVSVSVTHPELKVGDYFFGKCFDAMEVDALNSSHPVSTPVENPAQIREMFDDVSYDKGACILNMLRE
  YLSADAFKSGIVQYLQKHSYKNTKNEDLWDSMASICPTDGVKGMDGFCSRSQHSSSSSHWHQEGVDVKTMMNTWT
  LQKGFPLITITVRGRNVHMKQEHYMKGSDGAPDTGYLWHVPLTFITSKSDMVHRFLLKTKTDVLILPEEVEWIKF
  NVGMNGYYIVHYEDDGWDSLTGLLKGTHTAVSSNDRASLINNAFQLVSIGKLSIEKALDLSLYLKHETEIMPVFQ
  GLNELIPMYKLMEKRDMNEVETQFKAFLIRLLRDLIDKQTWTDEGSVSERMLRSQLLLLACVHNYQPCVQRAEGY
  FRKWKESNGNLSLPVDVTLAVFAVGAQSTEGWDFLYSKYQFSLSSTEKSQIEFALCRTQNKEKLQWLLDESFKGD
  KIKTQEFPQILTLIGRNPVGYPLAWQFLRKNWNKLVQKFELGSSSIAHMVMGTTNQFSTRTRLEEVKGFFSSLKE
  NGSQLRCVQQTIETIEENIGWMDKNFDKIRVWLQSEKLERM

• Structural information:
  • Interpro: IPR042097  IPR033520  IPR024571  IPR034016  IPR001930   IPR014782  
  • Prosite: PS00142
  • CDD: cd09601
  • PDB: 2YD0 3MDJ 3QNF 3RJO 5J5E 6M8P 6MGQ 6Q4R 6RQX 6RYF
  • PDBsum: 2YD0 3MDJ 3QNF 3RJO 5J5E 6M8P 6MGQ 6Q4R 6RQX 6RYF
  • STRING: ENSP00000296754
• Other Databases: GeneCards:  ERAP1  Malacards:  ERAP1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0008217	regulation of blood pressure	TAS	biological process
GO:0005151	interleukin-1, type II receptor binding	TAS	molecular function
GO:0001525	angiogenesis	TAS	biological process
GO:0005788	endoplasmic reticulum lumen	TAS	cellular component
GO:0019885	antigen processing and presentation of endogenous peptide antigen via MHC class I	TAS	biological process
GO:0005737	cytoplasm	IBA	cellular component
GO:0042277	peptide binding	IBA	molecular function
GO:0043171	peptide catabolic process	IBA	biological process
GO:0006508	proteolysis	IBA	biological process
GO:0008270	zinc ion binding	IBA	molecular function
GO:0070006	metalloaminopeptidase activity	IBA	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005789	endoplasmic reticulum membrane	IEA	cellular component
GO:0006508	proteolysis	IEA	biological process
GO:0008217	regulation of blood pressure	IEA	biological process
GO:0008270	zinc ion binding	IEA	molecular function
GO:0019885	antigen processing and presentation of endogenous peptide antigen via MHC class I	IEA	biological process
GO:0070006	metalloaminopeptidase activity	IEA	molecular function
GO:0008237	metallopeptidase activity	IEA	molecular function
GO:0002376	immune system process	IEA	biological process
GO:0016787	hydrolase activity	IEA	molecular function
GO:0046872	metal ion binding	IEA	molecular function
GO:0004177	aminopeptidase activity	IEA	molecular function
GO:0005783	endoplasmic reticulum	IEA	cellular component
GO:0006508	proteolysis	IEA	biological process
GO:0008233	peptidase activity	IEA	molecular function
GO:0002250	adaptive immune response	IEA	biological process
GO:0016020	membrane	IEA	cellular component
GO:0016021	integral component of membrane	IEA	cellular component
GO:0008237	metallopeptidase activity	IEA	molecular function
GO:0002474	antigen processing and presentation of peptide antigen via MHC class I	TAS	biological process
GO:0005788	endoplasmic reticulum lumen	TAS	cellular component
GO:0008233	peptidase activity	IEA	molecular function
GO:0006508	proteolysis	IEA	biological process
GO:0004177	aminopeptidase activity	IEA	molecular function
GO:0045766	positive regulation of angiogenesis	IEA	biological process
GO:0005737	cytoplasm	IEA	cellular component
GO:0009617	response to bacterium	NAS	biological process
GO:0005789	endoplasmic reticulum membrane	IEA	cellular component
GO:0005576	extracellular region	IDA	cellular component
GO:0004177	aminopeptidase activity	IDA	molecular function
GO:0004177	aminopeptidase activity	IDA	molecular function
GO:0006509	membrane protein ectodomain proteolysis	IDA	biological process
GO:0008235	metalloexopeptidase activity	IDA	molecular function
GO:0005615	extracellular space	HDA	cellular component
GO:0008270	zinc ion binding	NAS	molecular function
GO:0005829	cytosol	NAS	cellular component
GO:0016020	membrane	HDA	cellular component
GO:0045088	regulation of innate immune response	NAS	biological process
GO:0016021	integral component of membrane	NAS	cellular component
GO:0070062	extracellular exosome	HDA	cellular component
GO:0045444	fat cell differentiation	NAS	biological process
GO:0019885	antigen processing and presentation of endogenous peptide antigen via MHC class I	NAS	biological process
GO:0008217	regulation of blood pressure	NAS	biological process
GO:0005783	endoplasmic reticulum	NAS	cellular component
GO:0005138	interleukin-6 receptor binding	IPI	molecular function

Diseases

Associated diseases	References
Endometrial carcinoma	PMID:15741767
Cervix carcinoma	PMID:19202550
Non-obstructive azoospermia	MIK: 27628680
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
27628680	Non-obstructive azoospermia	rs11135484, Y-hg O3e(*)	Han Chi nese	2703 (1,000 NOA cases and 1,703 male controls)	Male infertility	GWAS
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)