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ERAP1 (endoplasmic reticulum aminopeptidase 1)

Identity

Other namesA-LAP
ALAP
APPILS
ARTS-1
ARTS1
ERAAP
ERAAP1
PILS-AP
PILSAP
HGNC (Hugo) ERAP1
LocusID (NCBI) 51752
Location 5q15
Location_base_pair Starts at 96110188 and ends at 96143892 bp from pter ( according to hg19-Feb_2009)
Note

Non-annotated gene. Preliminary data : if you are an author
who wish to write a full paper/card on this gene, go to  How to contribute

DNA/RNA

 

External links

Nomenclature
HGNC (Hugo)ERAP1   18173
Cards
Entrez_Gene (NCBI)ERAP1  51752  endoplasmic reticulum aminopeptidase 1
GeneCards (Weizmann)ERAP1
Ensembl (Hinxton)ENSG00000164307 [Gene_View]  chr5:96110188-96143892 [Contig_View]  ERAP1 [Vega]
ICGC DataPortalENSG00000164307
cBioPortalERAP1
AceView (NCBI)ERAP1
Genatlas (Paris)ERAP1
WikiGenes51752
SOURCE (Princeton)NM_001040458 NM_001198541 NM_016442
Genomic and cartography
GoldenPath (UCSC)ERAP1  -  5q15   chr5:96110188-96143892 -  5q15   [Description]    (hg19-Feb_2009)
EnsemblERAP1 - 5q15 [CytoView]
Mapping of homologs : NCBIERAP1 [Mapview]
OMIM606832   
Gene and transcription
Genbank (Entrez)AB011097 AF106037 AF183569 AF222340 AK222873
RefSeq transcript (Entrez)NM_001040458 NM_001198541 NM_016442
RefSeq genomic (Entrez)AC_000137 NC_000005 NC_018916 NG_027839 NT_034772 NW_001838952 NW_004929323
Consensus coding sequences : CCDS (NCBI)ERAP1
Cluster EST : UnigeneHs.666524 [ NCBI ]
CGAP (NCI)Hs.666524
Alternative Splicing : Fast-db (Paris)GSHG0033460
Alternative Splicing GalleryENSG00000164307
Gene ExpressionERAP1 [ NCBI-GEO ]     ERAP1 [ SEEK ]   ERAP1 [ MEM ]
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ9NZ08 (Uniprot)
NextProtQ9NZ08  [Medical]
With graphics : InterProQ9NZ08
Splice isoforms : SwissVarQ9NZ08 (Swissvar)
Catalytic activity : Enzyme3.4.11.- [ Enzyme-Expasy ]   3.4.11.-3.4.11.- [ IntEnz-EBI ]   3.4.11.- [ BRENDA ]   3.4.11.- [ KEGG ]   
Domaine pattern : Prosite (Expaxy)ZINC_PROTEASE (PS00142)   
Domains : Interpro (EBI)ERAP1-like_C_dom [organisation]   Peptidase_M1 [organisation]   Peptidase_M1_N [organisation]  
Related proteins : CluSTrQ9NZ08
Domain families : Pfam (Sanger)ERAP1_C (PF11838)    Peptidase_M1 (PF01433)   
Domain families : Pfam (NCBI)pfam11838    pfam01433   
DMDM Disease mutations51752
Blocks (Seattle)Q9NZ08
PDB (SRS)2YD0    3MDJ    3QNF    3RJO   
PDB (PDBSum)2YD0    3MDJ    3QNF    3RJO   
PDB (IMB)2YD0    3MDJ    3QNF    3RJO   
PDB (RSDB)2YD0    3MDJ    3QNF    3RJO   
Human Protein AtlasENSG00000164307 [gene] [tissue] [antibody] [cell] [cancer]
Peptide AtlasQ9NZ08
HPRD06015
IPIIPI00477831   IPI00165949   IPI00964441   IPI00964173   IPI00966575   
Protein Interaction databases
DIP (DOE-UCLA)Q9NZ08
IntAct (EBI)Q9NZ08
FunCoupENSG00000164307
BioGRIDERAP1
InParanoidQ9NZ08
Interologous Interaction database Q9NZ08
IntegromeDBERAP1
STRING (EMBL)ERAP1
Ontologies - Pathways
Ontology : AmiGOangiogenesis  antigen processing and presentation of peptide antigen via MHC class I  aminopeptidase activity  interleukin-6 receptor binding  interleukin-1, Type II receptor binding  protein binding  extracellular region  extracellular space  endoplasmic reticulum  endoplasmic reticulum lumen  endoplasmic reticulum membrane  cytosol  membrane protein ectodomain proteolysis  regulation of blood pressure  regulation of blood pressure  metalloexopeptidase activity  zinc ion binding  response to bacterium  membrane  integral component of membrane  antigen processing and presentation of endogenous peptide antigen via MHC class I  antigen processing and presentation of endogenous peptide antigen via MHC class I  regulation of innate immune response  fat cell differentiation  positive regulation of angiogenesis  extracellular vesicular exosome  
Ontology : EGO-EBIangiogenesis  antigen processing and presentation of peptide antigen via MHC class I  aminopeptidase activity  interleukin-6 receptor binding  interleukin-1, Type II receptor binding  protein binding  extracellular region  extracellular space  endoplasmic reticulum  endoplasmic reticulum lumen  endoplasmic reticulum membrane  cytosol  membrane protein ectodomain proteolysis  regulation of blood pressure  regulation of blood pressure  metalloexopeptidase activity  zinc ion binding  response to bacterium  membrane  integral component of membrane  antigen processing and presentation of endogenous peptide antigen via MHC class I  antigen processing and presentation of endogenous peptide antigen via MHC class I  regulation of innate immune response  fat cell differentiation  positive regulation of angiogenesis  extracellular vesicular exosome  
Protein Interaction DatabaseERAP1
Wikipedia pathwaysERAP1
Gene fusion - rearrangments
Polymorphisms : SNP, mutations, diseases
SNP Single Nucleotide Polymorphism (NCBI)ERAP1
snp3D : Map Gene to Disease51752
SNP (GeneSNP Utah)ERAP1
SNP : HGBaseERAP1
Genetic variants : HAPMAPERAP1
Exome VariantERAP1
1000_GenomesERAP1 
ICGC programENSG00000164307 
Somatic Mutations in Cancer : COSMICERAP1 
CONAN: Copy Number AnalysisERAP1 
Mutations and Diseases : HGMDERAP1
Mutations and Diseases : intOGenERAP1
Genomic VariantsERAP1  ERAP1 [DGVbeta]
dbVarERAP1
ClinVarERAP1
Pred. of missensesPolyPhen-2  SIFT(SG)  SIFT(JCVI)  Align-GVGD  MutAssessor  Mutanalyser  
Pred. splicesGeneSplicer  Human Splicing Finder  MaxEntScan  
Diseases
OMIM606832   
MedgenERAP1
GENETestsERAP1
Disease Genetic AssociationERAP1
Huge Navigator ERAP1 [HugePedia]  ERAP1 [HugeCancerGEM]
General knowledge
Homologs : HomoloGeneERAP1
Homology/Alignments : Family Browser (UCSC)ERAP1
Phylogenetic Trees/Animal Genes : TreeFamERAP1
Chemical/Protein Interactions : CTD51752
Chemical/Pharm GKB GenePA162385163
Clinical trialERAP1
Cancer Resource (Charite)ENSG00000164307
Other databases
Probes
Litterature
PubMed105 Pubmed reference(s) in Entrez
CoreMineERAP1
iHOPERAP1
OncoSearchERAP1
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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Contributor(s)

Written09-2002Dessen P, Le Minor S
Updated12-2013Dessen P

© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Tue Aug 26 16:45:57 CEST 2014

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