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Elapor1 Gene Detail
Summary
  • Symbol
    Elapor1
  • Name
    endosome-lysosome associated apoptosis and autophagy regulator 1
  • Synonyms
    5330417C22Rik, Iir, Inceptor
  • Feature Type
    protein coding gene
  • IDs
    MGI:1923930
    NCBI Gene: 229722
  • Alliance
    gene page
  • Transcription Start Sites
    4 TSS
Location &
Maps
more
  • Sequence Map
    Chr3:108363010-108443852 bp, - strand
    From Ensembl annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 3, 47.14 cM
  • Mapping Data
    2 experiments
Strain
Comparison
more
  • SNPs within 2kb
    2694 from dbSNP Build 142
  • Strain Annotations
    18
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_1923930
 protein coding gene Chr3:108362995-108444064 (-)
129S1/SvImJ MGP_129S1SvImJ_G0027778
 protein coding gene Chr3:110008259-110095140 (-)
A/J MGP_AJ_G0027738
 protein coding gene Chr3:106520601-106601234 (-)
AKR/J MGP_AKRJ_G0027703
 protein coding gene Chr3:109109801-109191839 (-)
BALB/cJ MGP_BALBcJ_G0027750
 protein coding gene Chr3:106217584-106299766 (-)
C3H/HeJ MGP_C3HHeJ_G0027480
 protein coding gene Chr3:109463044-109552577 (-)
C57BL/6NJ MGP_C57BL6NJ_G0028194
 protein coding gene Chr3:114112156-114201511 (-)
CAROLI/EiJ MGP_CAROLIEiJ_G0025532
 protein coding gene Chr3:102664382-102738324 (-)
CAST/EiJ MGP_CASTEiJ_G0026936
 protein coding gene Chr3:108845574-108945273 (-)
CBA/J MGP_CBAJ_G0027455
 protein coding gene Chr3:118000208-118095401 (-)
DBA/2J MGP_DBA2J_G0027597
 protein coding gene Chr3:105699437-105780035 (-)
FVB/NJ MGP_FVBNJ_G0027565
 protein coding gene Chr3:103587596-103669000 (-)
LP/J MGP_LPJ_G0027704
 protein coding gene Chr3:111428540-111524592 (-)
NOD/ShiLtJ MGP_NODShiLtJ_G0027595
 protein coding gene Chr3:124043992-124146473 (-)
NZO/HlLtJ MGP_NZOHlLtJ_G0028249
 protein coding gene Chr3:108708641-108798064 (-)
PWK/PhJ MGP_PWKPhJ_G0026662
 protein coding gene Chr3:105450356-105531992 (-)
SPRET/EiJ MGP_SPRETEiJ_G0026482
 protein coding gene Chr3:106851065-106935849 (-)
WSB/EiJ MGP_WSBEiJ_G0027016
 protein coding gene Chr3:109246142-109331769 (-)



Homology
more
  • Human Ortholog
    ELAPOR1, endosome-lysosome associated apoptosis and autophagy regulator 1
  • Vertebrate Orthologs
    3
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    ELAPOR1, endosome-lysosome associated apoptosis and autophagy regulator 1
  • Synonyms
    EIG121, KIAA1324
  • Links
    NCBI Gene ID: 57535
    neXtProt AC: NX_Q6UXG2
    UniProt: Q6UXG2

  • Chr Location
    1p13.3; chr1:109113679-109206781 (+)  GRCh38
Human Diseases
less
  • References
    1 with disease annotations
Mutations,
Alleles, and
Phenotypes
less
  • Phenotype Summary
    13 phenotypes from 2 alleles in 2 genetic backgrounds
    21 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.
Male homozygous mice are infertile. Microscopic analysis revealed defective spermatogenesis in the testis, and hypospermia and defective spermatozoa in the epididymides.
Gene Ontology
(GO)
Classifications
less
  • All GO Annotations
    20
  • GO References
    4
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
    706
  • cDNA Data
    32
  • Literature Summary
    2
  • Comparison Matrix
    Gene Expression + Phenotype
    • Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic ENSMUSG00000040412 Ensembl Gene Model | MGI Sequence Detail 80843 C57BL/6J ±  kb
    transcript ENSMUST00000106625 Ensembl | MGI Sequence Detail 5836 Not Applicable  
    polypeptide ENSMUSP00000102236 Ensembl | MGI Sequence Detail 1013 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    • UniProt
      3 Sequences
    • Protein Ontology
      PR:000060179 endosome/lysosome-associated apoptosis and autophagy regulator 1
      (term hierarchy)
    • InterPro Domains
      IPR039181 EIG121-like
      IPR009030 Growth factor receptor cysteine-rich domain superfamily
      IPR009011 Mannose-6-phosphate receptor binding domain superfamily
      IPR044865 MRH domain
    • GlyGen
      A2AFS3 5 sites, 2 N-linked glycans (2 sites)
    Molecular
    Reagents
    less
    • All nucleic 32
      cDNA 32

      Microarray probesets 3
    Other
    Accession IDs
    less
    MGI:2140031, MGI:6393872
    References
    more
    • Summaries
      All 44
      Developmental Gene Expression 2
      Diseases 1
      Gene Ontology 4
      Phenotypes 21
    • 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:345621 Adams DJ, et al., Genetic determinants of micronucleus formation in vivo. Nature. 2024 Mar;627(8002):130-136
    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)
    Citing These Resources
    Funding Information
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    Send questions and comments to User Support.     		last database update
    11/05/2024
    MGI 6.24     		The Jackson Laboratory