Human Gene ERAP1 (ENST00000296754.7) from GENCODE V44
Description: Homo sapiens endoplasmic reticulum aminopeptidase 1 (ERAP1), transcript variant 1, mRNA. (from RefSeq NM_016442) RefSeq Summary (NM_016442): 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]. Gencode Transcript: ENST00000296754.7 Gencode Gene: ENSG00000164307.13 Transcript (Including UTRs) Position: hg38 chr5:96,760,810-96,808,100 Size: 47,291 Total Exon Count: 20 Strand: - Coding Region Position: hg38 chr5:96,763,200-96,803,926 Size: 40,727 Coding Exon Count: 19
ID:ERAP1_HUMAN DESCRIPTION: RecName: Full=Endoplasmic reticulum aminopeptidase 1; EC=3.4.11.-; AltName: Full=ARTS-1; AltName: Full=Adipocyte-derived leucine aminopeptidase; Short=A-LAP; AltName: Full=Aminopeptidase PILS; AltName: Full=Puromycin-insensitive leucyl-specific aminopeptidase; Short=PILS-AP; AltName: Full=Type 1 tumor necrosis factor receptor shedding aminopeptidase regulator; 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 required for presentation on MHC class I molecules. Strongly prefers substrates 9-16 residues long. Rapidly degrades 13-mer to a 9-mer and then stops. Preferentially hydrolyzes the residue Leu and peptides with a hydrophobic C-terminus, while it has weak activity toward peptides with charged C-terminus. May play a role in the inactivation of peptide hormones. May be involved in the regulation of blood pressure through the inactivation of angiotensin II and/or the generation of bradykinin in the kidney. CATALYTIC ACTIVITY: Release of an N-terminal amino acid, Xaa-|- Xbb-, in which Xaa is preferably Leu, but may be other amino acids including Met, Cys and Phe. COFACTOR: Binds 1 zinc ion per subunit. SUBUNIT: Monomer. May also exist as a heterodimer; with ERAP2. Interacts with RBMX. INTERACTION: P08887:IL6R; NbExp=1; IntAct=EBI-299412, EBI-299383; SUBCELLULAR LOCATION: Endoplasmic reticulum membrane; Single-pass type II membrane protein (Probable). TISSUE SPECIFICITY: Ubiquitous. INDUCTION: By IFNG/IFN-gamma. PTM: N-glycosylated. SIMILARITY: Belongs to the peptidase M1 family. CAUTION: It is uncertain whether Met-1 or Met-13 is the initiator. SEQUENCE CAUTION: Sequence=BAA25451.2; Type=Erroneous initiation;
The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.
ModBase Predicted Comparative 3D Structure on Q9NZ08
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Orthologous Genes in Other Species
Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
Biological Process: GO:0001525 angiogenesis GO:0002250 adaptive immune response GO:0002376 immune system process GO:0002474 antigen processing and presentation of peptide antigen via MHC class I GO:0006508 proteolysis GO:0006509 membrane protein ectodomain proteolysis GO:0007165 signal transduction GO:0007267 cell-cell signaling GO:0008217 regulation of blood pressure GO:0009617 response to bacterium GO:0019885 antigen processing and presentation of endogenous peptide antigen via MHC class I GO:0043171 peptide catabolic process GO:0045088 regulation of innate immune response GO:0045444 fat cell differentiation GO:0045766 positive regulation of angiogenesis
AB011097 - Homo sapiens KIAA0525 mRNA for KIAA0525 protein. AL110186 - Homo sapiens mRNA; cDNA DKFZp566L221 (from clone DKFZp566L221). AY028807 - Homo sapiens adipocyte-derived leucine aminopeptidase 2 isoform b mRNA, complete cds. JD491487 - Sequence 472511 from Patent EP1572962. JD288645 - Sequence 269669 from Patent EP1572962. JD240536 - Sequence 221560 from Patent EP1572962. JD509887 - Sequence 490911 from Patent EP1572962. JD135615 - Sequence 116639 from Patent EP1572962. JD357587 - Sequence 338611 from Patent EP1572962. JD038184 - Sequence 19208 from Patent EP1572962. JD182239 - Sequence 163263 from Patent EP1572962. JD082737 - Sequence 63761 from Patent EP1572962. JD241513 - Sequence 222537 from Patent EP1572962. JD212125 - Sequence 193149 from Patent EP1572962. JD180921 - Sequence 161945 from Patent EP1572962. JD242447 - Sequence 223471 from Patent EP1572962. JD562308 - Sequence 543332 from Patent EP1572962. JD531938 - Sequence 512962 from Patent EP1572962. JD553111 - Sequence 534135 from Patent EP1572962. JD326390 - Sequence 307414 from Patent EP1572962. JD099015 - Sequence 80039 from Patent EP1572962. JD327810 - Sequence 308834 from Patent EP1572962. AY028806 - Homo sapiens adipocyte-derived leucine aminopeptidase 2 isoform a mRNA, complete cds. JD495218 - Sequence 476242 from Patent EP1572962. AB383897 - Synthetic construct DNA, clone: pF1KSDA0525, Homo sapiens ARTS1 gene for adipocyte-derived leucine aminopeptidase precursor, complete cds, without stop codon, in Flexi system. AK310535 - Homo sapiens cDNA, FLJ17577. AK222873 - Homo sapiens mRNA for Adipocyte-derived leucine aminopeptidase precursor variant, clone: HEP15879. AF183569 - Homo sapiens aminopeptidase PILS (APPILS) mRNA, complete cds. AF222340 - Homo sapiens type 1 tumor necrosis factor receptor shedding aminopeptidase regulator mRNA, complete cds. AK291636 - Homo sapiens cDNA FLJ76662 complete cds, highly similar to Homo sapiens type 1 tumor necrosis factor receptor shedding aminopeptidase regulator, mRNA. BC030775 - Homo sapiens endoplasmic reticulum aminopeptidase 1, mRNA (cDNA clone MGC:26222 IMAGE:4824919), complete cds. AY358590 - Homo sapiens clone DNA59846 ARTS-1 (UNQ584) mRNA, complete cds. AF106037 - Homo sapiens adipocyte-derived leucine aminopeptidase mRNA, complete cds. KJ893984 - Synthetic construct Homo sapiens clone ccsbBroadEn_03378 ERAP1 gene, encodes complete protein. KR709493 - Synthetic construct Homo sapiens clone CCSBHm_00002779 ERAP1 (ERAP1) mRNA, encodes complete protein. KM357870 - Homo sapiens endoplasmic reticulum aminopeptidase 1 (ERAP1) mRNA, ERAP1-001:01 allele, partial cds. KM357871 - Homo sapiens endoplasmic reticulum aminopeptidase 1 (ERAP1) mRNA, ERAP1-001:02 allele, partial cds. KM357872 - Homo sapiens endoplasmic reticulum aminopeptidase 1 (ERAP1) mRNA, ERAP1-001:03 allele, partial cds. KM357873 - Homo sapiens endoplasmic reticulum aminopeptidase 1 (ERAP1) mRNA, ERAP1-001:04 allele, partial cds. KM357874 - Homo sapiens endoplasmic reticulum aminopeptidase 1 (ERAP1) mRNA, ERAP1-001:05 allele, partial cds. KM357875 - Homo sapiens endoplasmic reticulum aminopeptidase 1 (ERAP1) mRNA, ERAP1-001:06 allele, partial cds. KM357876 - Homo sapiens endoplasmic reticulum aminopeptidase 1 (ERAP1) mRNA, ERAP1-001:07 allele, partial cds. KM357877 - Homo sapiens endoplasmic reticulum aminopeptidase 1 (ERAP1) mRNA, ERAP1-002:01 allele, partial cds. KM357878 - Homo sapiens endoplasmic reticulum aminopeptidase 1 (ERAP1) mRNA, ERAP1-002:02 allele, partial cds. KM357879 - Homo sapiens endoplasmic reticulum aminopeptidase 1 (ERAP1) mRNA, ERAP1-003:01 allele, partial cds. KM357880 - Homo sapiens endoplasmic reticulum aminopeptidase 1 (ERAP1) mRNA, ERAP1-004:01 allele, partial cds. KM357881 - Homo sapiens endoplasmic reticulum aminopeptidase 1 (ERAP1) mRNA, ERAP1-005:01 allele, partial cds. KM357882 - Homo sapiens endoplasmic reticulum aminopeptidase 1 (ERAP1) mRNA, ERAP1-005:02 allele, partial cds. KM357883 - Homo sapiens endoplasmic reticulum aminopeptidase 1 (ERAP1) mRNA, ERAP1-005:03 allele, partial cds. KM357884 - Homo sapiens endoplasmic reticulum aminopeptidase 1 (ERAP1) mRNA, ERAP1-006:01 allele, partial cds. KM357885 - Homo sapiens endoplasmic reticulum aminopeptidase 1 (ERAP1) mRNA, ERAP1-007:01 allele, partial cds. KM357886 - Homo sapiens endoplasmic reticulum aminopeptidase 1 (ERAP1) mRNA, ERAP1-008:01 allele, partial cds. KM357887 - Homo sapiens endoplasmic reticulum aminopeptidase 1 (ERAP1) mRNA, ERAP1-009:01 allele, partial cds. KM357888 - Homo sapiens endoplasmic reticulum aminopeptidase 1 (ERAP1) mRNA, ERAP1-010:01 allele, partial cds. KM357889 - Homo sapiens endoplasmic reticulum aminopeptidase 1 (ERAP1) mRNA, ERAP1-011:01 allele, partial cds. KM357890 - Homo sapiens endoplasmic reticulum aminopeptidase 1 (ERAP1) mRNA, ERAP1-012:01 allele, partial cds. KM357891 - Homo sapiens endoplasmic reticulum aminopeptidase 1 (ERAP1) mRNA, ERAP1-013:01 allele, partial cds. JX962702 - Homo sapiens endoplasmic reticulum aminopeptidase 1 delta-Exon-15 isoform (ERAP1) mRNA, complete cds, alternatively spliced. JX962701 - Homo sapiens endoplasmic reticulum aminopeptidase 1 delta-Exon-14 isoform (ERAP1) mRNA, complete cds, alternatively spliced. JX962700 - Homo sapiens endoplasmic reticulum aminopeptidase 1 delta-Exon-13 isoform (ERAP1) mRNA, complete cds, alternatively spliced. JX962699 - Homo sapiens endoplasmic reticulum aminopeptidase 1 delta-Exon-11 isoform (ERAP1) mRNA, complete cds, alternatively spliced. JD067216 - Sequence 48240 from Patent EP1572962. JD386801 - Sequence 367825 from Patent EP1572962. JD477995 - Sequence 459019 from Patent EP1572962. JD135187 - Sequence 116211 from Patent EP1572962.
Biochemical and Signaling Pathways
Reactome (by CSHL, EBI, and GO)
Protein Q9NZ08 (Reactome details) participates in the following event(s):
R-HSA-983170 Antigen Presentation: Folding, assembly and peptide loading of class I MHC R-HSA-983169 Class I MHC mediated antigen processing & presentation R-HSA-1280218 Adaptive Immune System R-HSA-168256 Immune System