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Kdelr1 Gene Detail
Summary
  • Symbol
    Kdelr1
  • Name
    KDEL (Lys-Asp-Glu-Leu) endoplasmic reticulum protein retention receptor 1
  • Synonyms
    8030486F04Rik
  • Feature Type
    protein coding gene
  • IDs
    MGI:1915387
    NCBI Gene: 68137
  • Gene Overview
    MyGene.info: KDELR1
  • Alliance
  • Transcription Start Sites
    4 TSS
Location &
Maps
more
  • Sequence Map
    Chr7:45872840-45883726 bp, + strand
  • From NCBI annotation of GRCm38

    View this region in JBrowse

  • Genome Browsers
  • Genetic Map
    Chromosome 7, 29.57 cM
  • Mapping Data
    2 experiments
Strain
Comparison
more
  • SNPs within 2kb
    195 from dbSNP Build 142
  • Strain Annotations
    18
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_1915387
protein coding gene Chr7:45872772-45883732 (.)
129S1/SvImJ MGP_129S1SvImJ_G0032252
protein coding gene Chr7:46197528-46209299 (+)
A/J MGP_AJ_G0032231
protein coding gene Chr7:45271602-45282466 (+)
AKR/J MGP_AKRJ_G0032167
protein coding gene Chr7:46544619-46557880 (+)
BALB/cJ MGP_BALBcJ_G0032243
protein coding gene Chr7:45271618-45282476 (+)
C3H/HeJ MGP_C3HHeJ_G0031958
protein coding gene Chr7:47026871-47037313 (+)
C57BL/6NJ MGP_C57BL6NJ_G0032735
protein coding gene Chr7:48461554-48473793 (+)
CAROLI/EiJ MGP_CAROLIEiJ_G0029749
protein coding gene Chr7:47822625-47835712 (+)
CAST/EiJ MGP_CASTEiJ_G0031286
protein coding gene Chr7:38473172-38486112 (+)
CBA/J MGP_CBAJ_G0031923
protein coding gene Chr7:50087765-50098612 (+)
DBA/2J MGP_DBA2J_G0032080
protein coding gene Chr7:44951702-44962518 (+)
FVB/NJ MGP_FVBNJ_G0032032
protein coding gene Chr7:44731160-44742004 (+)
LP/J MGP_LPJ_G0032159
protein coding gene Chr7:46904012-46917246 (+)
NOD/ShiLtJ MGP_NODShiLtJ_G0032069
protein coding gene Chr7:48756768-48768185 (+)
NZO/HlLtJ MGP_NZOHlLtJ_G0032750
protein coding gene Chr7:45746576-45757434 (+)
PWK/PhJ MGP_PWKPhJ_G0031009
protein coding gene Chr7:38322315-38332910 (+)
SPRET/EiJ MGP_SPRETEiJ_G0030847
protein coding gene Chr7:33774528-33787159 (+)
WSB/EiJ MGP_WSBEiJ_G0031404
protein coding gene Chr7:46249780-46260245 (+)



Homology
more
  • Human Ortholog
    KDELR1, KDEL endoplasmic reticulum protein retention receptor 1
  • Vertebrate Orthologs
    8
  • Human Ortholog
    KDELR1, KDEL endoplasmic reticulum protein retention receptor 1
    Orthology source: HomoloGene, HGNC
  • Synonyms
    ERD2, ERD2.1, HDEL, PM23
  • Links
    NCBI Gene ID: 10945
    neXtProt AC: NX_P24390
    UniProt: P24390

  • Chr Location
    19q13.33; chr19:48382570-48391553 (-)  GRCh38.p7

Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    15 phenotypes from 2 alleles in 2 genetic backgrounds
    2 phenotypes from multigenic genotypes
    8 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
immune system
integument
limbs/digits/tail
liver/biliary system
mortality/aging
muscle
neoplasm
nervous system
pigmentation
renal/urinary system
reproductive system
respiratory system
skeleton
taste/olfaction
vision/eye

Click cells to view annotations.
Mice homozygous for an ENU-induced single point mutation display thymus hypoplasia and a reduction in CD4+ as well as CD8+ T cell numbers.
Gene Ontology
(GO)
Classifications
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  • All GO Annotations
  • GO References
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 death
cell differentiation
cell proliferation
cellular component organization
establishment of localization
homeostatic process
immune system process
lipid metabolic process
nucleic acid-templated transcription
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
non-membrane-bounded organelle
nucleus
organelle envelope
organelle lumen
plasma membrane
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
  • Tissues
  • cDNA Data
  • Literature Summary
  • Comparison Matrix
  • Interactions
    less
    Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic 68137 NCBI Gene Model | MGI Sequence Detail 10887 C57BL/6J ±  kb
    transcript NM_133950 RefSeq | MGI Sequence Detail 1525 C57BL/6  
    polypeptide Q99JH8 UniProt | EBI | MGI Sequence Detail 212 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    Molecular
    Reagents
    less
    • All nucleic 161
      cDNA 161

      Microarray probesets 2
    Other
    Accession IDs
    less
    MGI:2142222
    References
    more
    • Summaries
      All 38
      Developmental Gene Expression 2
      Gene Ontology 10
      Phenotypes 8
    • Earliest
      J:65060 Kawai J, et al., Functional annotation of a full-length mouse cDNA collection. Nature. 2001 Feb 8;409(6821):685-90
    • Latest
      J:233909 Kamimura D, et al., Strong TCR-mediated signals suppress integrated stress responses induced by KDELR1 deficiency in naive T cells. Int Immunol. 2016 Mar;28(3):117-26

    Contributing Projects:
    Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
    Citing These Resources
    Funding Information
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    last database update
    11/06/2018
    MGI 6.13
    The Jackson Laboratory