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Erap1 Gene Detail
Summary
  • Symbol
    Erap1
  • Name
    endoplasmic reticulum aminopeptidase 1
  • Synonyms
    Arts1, ERAAP, PILSAP
  • Feature Type
    protein coding gene
  • IDs
    MGI:1933403
    NCBI Gene: 80898
  • Alliance
    gene page
  • Transcription Start Sites
    3 TSS
Location &
Maps
more
  • Sequence Map
    Chr13:74787692-74841321 bp, + strand
    From NCBI annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 13, 40.48 cM, cytoband C1
  • Mapping Data
    2 experiments
Strain
Comparison
more
  • SNPs within 2kb
    1079 from dbSNP Build 142
  • Strain Annotations
    18
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_1933403
 protein coding gene Chr13:74787687-74841321 (+)
129S1/SvImJ MGP_129S1SvImJ_G0020768
 protein coding gene Chr13:75169592-75222247 (+)
A/J MGP_AJ_G0020723
 protein coding gene Chr13:72556666-72617226 (+)
AKR/J MGP_AKRJ_G0020697
 protein coding gene Chr13:74784216-74835665 (+)
BALB/cJ MGP_BALBcJ_G0020720
 protein coding gene Chr13:73044577-73095888 (+)
C3H/HeJ MGP_C3HHeJ_G0020514
 protein coding gene Chr13:74476299-74529849 (+)
C57BL/6NJ MGP_C57BL6NJ_G0021157
 protein coding gene Chr13:77691087-77744498 (+)
CAROLI/EiJ MGP_CAROLIEiJ_G0018725
 protein coding gene Chr13:69468158-69513354 (+)
CAST/EiJ MGP_CASTEiJ_G0020032
 protein coding gene Chr13:73578706-73627695 (+)
CBA/J MGP_CBAJ_G0020473
 protein coding gene Chr13:80591352-80661426 (+)
DBA/2J MGP_DBA2J_G0020598
 protein coding gene Chr13:72314864-72364874 (+)
FVB/NJ MGP_FVBNJ_G0020578
 protein coding gene Chr13:71361716-71409280 (+)
LP/J MGP_LPJ_G0020671
 protein coding gene Chr13:75421563-75471118 (+)
NOD/ShiLtJ MGP_NODShiLtJ_G0020607
 protein coding gene Chr13:78989896-79044189 (+)
NZO/HlLtJ MGP_NZOHlLtJ_G0021197
 protein coding gene Chr13:74104675-74161937 (+)
PWK/PhJ MGP_PWKPhJ_G0019785
 protein coding gene Chr13:71196533-71242718 (+)
SPRET/EiJ MGP_SPRETEiJ_G0019608
 protein coding gene Chr13:70479468-70537294 (+)
WSB/EiJ MGP_WSBEiJ_G0020089
 protein coding gene Chr13:74624855-74675004 (+)



Homology
more
  • Human Ortholog
    ERAP1, endoplasmic reticulum aminopeptidase 1
  • Vertebrate Orthologs
    4
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    ERAP1, endoplasmic reticulum aminopeptidase 1
  • Synonyms
    A-LAP, ALAP, APPILS, ARTS-1, ARTS1, ERAAP, ERAAP1, PILS-AP, PILSAP
  • Links
    NCBI Gene ID: 51752
    neXtProt AC: NX_Q9NZ08
    UniProt: Q9NZ08

  • Chr Location
    5q15; chr5:96760810-96935854 (-)  GRCh38
Human Diseases
more
  • Diseases
    1 with human ERAP1 associations

Human Disease Mouse Models
      
IDs
Click on a disease name to see all genes associated with that disease.

Mutations,
Alleles, and
Phenotypes
less
  • Phenotype Summary
    24 phenotypes from 6 alleles in 6 genetic backgrounds
    2 phenotypes from multigenic genotypes
    36 phenotype references
Phenotype Overview

adipose tissue
behavior/neurological
cardiovascular system
cellular
craniofacial
digestive/alimentary system
embryo
endocrine/exocrine glands
growth/size/body
hearing/vestibular/ear
hematopoietic system
homeostasis/metabolism
integument
immune system
limbs/digits/tail
liver/biliary system
mortality/aging
muscle
nervous system
pigmentation
renal/urinary system
reproductive system
respiratory system
skeleton
taste/olfaction
neoplasm
vision/eye

Click cells to view annotations.
Mice homozygous for a targeted mutation may exhibit extramedullary hematopoiesis of the spleen, thymus hyperplasia, or enlarged kidneys at older ages.
Gene Ontology
(GO)
Classifications
less
  • All GO Annotations
    32
  • GO References
    9
Molecular Function

carbohydrate derivative binding
cytoskeletal protein binding
DNA binding
enzyme regulator
hydrolase
ligase
lipid binding
oxidoreductase
RNA binding
signaling receptor activity
signaling receptor binding
transcription
transferase
transporter
Biological Process

carbohydrate derivative metabolism
cell differentiation
cell population proliferation
cellular component organization
DNA-templated transcription
establishment of localization
homeostatic process
immune system process
lipid metabolic process
programmed cell death
protein metabolic process
response to stimulus
signaling
system development
Cellular Component

cell projection
cytoplasmic vesicle
cytoskeleton
cytosol
endoplasmic reticulum
endosome
extracellular region
Golgi apparatus
mitochondrion
membraneless organelle
nucleus
organelle envelope
organelle lumen
plasma membrane
protein-containing complex
synapse
vacuole
Click cells to view annotations.
Expression
less
Expression Overview

early conceptus
embryo ectoderm
embryo endoderm
embryo mesoderm
embryo mesenchyme
extraembryonic component
alimentary system
auditory system
branchial arches
cardiovascular system
connective tissue
endocrine system
exocrine system
hemolymphoid system
integumental system
limbs
liver and biliary system
musculoskeletal system
nervous system
olfactory system
reproductive system
respiratory system
urinary system
visual system
Click cells to view annotations.


  • Assay Results
    821
  • Tissues
    65
  • cDNA Data
    76
  • Literature Summary
    2
  • Comparison Matrix
    Gene Expression + Phenotype
    • Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic 80898 NCBI Gene Model | MGI Sequence Detail 53630 C57BL/6J ±  kb
    transcript NM_001426580 RefSeq | MGI Sequence Detail 5404 C57BL/6  
    polypeptide Q9EQH2 UniProt | EBI | MGI Sequence Detail 930 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    • UniProt
      6 Sequences
    • Protein Ontology
      PR:000007155 endoplasmic reticulum aminopeptidase 1
      (term hierarchy)
    • EC
      3.4.11.-
    • InterPro Domains
      IPR045357 Aminopeptidase N-like , N-terminal domain
      IPR042097 Aminopeptidase N-like , N-terminal domain superfamliy
      IPR034016 Aminopeptidase N-type
      IPR024571 ERAP1-like C-terminal domain
      IPR001930 Peptidase M1, alanine aminopeptidase/leukotriene A4 hydrolase
      IPR050344 Peptidase M1 family aminopeptidases
      IPR014782 Peptidase M1, membrane alanine aminopeptidase
      IPR027268 Peptidase M4/M1, CTD superfamily
    • GlyGen
      Q9EQH2 7 sites, 4 N-linked glycans (2 sites), 1 O-linked glycan (1 site)
    Molecular
    Reagents
    less
    • All nucleic 78
      cDNA 77
      Primer pair 1

      Microarray probesets 3
    References
    more
    • Summaries
      All 73
      Developmental Gene Expression 2
      Gene Ontology 9
      Phenotypes 36
    • Earliest
      J:182573 Roderick TH, Producing and detecting paracentric chromosomal inversions in mice. Mutat Res. 1971 Jan;11(1):59-69
    • Latest
      J:346013 Kim HJ, et al., A narrow T cell receptor repertoire instructs thymic differentiation of MHC class Ib-restricted CD8+ regulatory T cells. J Clin Invest. 2024 Jan 2;134(1)
    Contributing Projects:
    Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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    Funding Information
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    Send questions and comments to User Support.     		last database update
    12/10/2024
    MGI 6.24     		The Jackson Laboratory