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Emc1 Gene Detail
Summary
  • Symbol
    Emc1
  • Name
    ER membrane protein complex subunit 1
  • Synonyms
    C230096C10Rik, mKIAA0090
  • Feature Type
    protein coding gene
  • IDs
    MGI:2443696
    NCBI Gene: 230866
  • Alliance
  • Transcription Start Sites
    6 TSS
Location &
Maps
more
  • Sequence Map
    Chr4:139079898-139106041 bp, + strand
    From Ensembl annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
  • Genetic Map
    Chromosome 4, 70.66 cM
  • Mapping Data
    2 experiments
Strain
Comparison
more
  • SNPs within 2kb
    135 from dbSNP Build 142
  • Strain Annotations
    18
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_2443696
protein coding gene Chr4:139079898-139106046 (+)
129S1/SvImJ MGP_129S1SvImJ_G0029017
protein coding gene Chr4:142184767-142211051 (+)
A/J MGP_AJ_G0028976
protein coding gene Chr4:136071319-136097014 (+)
AKR/J MGP_AKRJ_G0028928
protein coding gene Chr4:139970017-139997109 (+)
BALB/cJ MGP_BALBcJ_G0029000
protein coding gene Chr4:136743215-136773201 (+)
C3H/HeJ MGP_C3HHeJ_G0028714
protein coding gene Chr4:140348416-140376817 (+)
C57BL/6NJ MGP_C57BL6NJ_G0029441
protein coding gene Chr4:147216183-147247005 (+)
CAROLI/EiJ MGP_CAROLIEiJ_G0026712
protein coding gene Chr4:129026139-129052035 (+)
CAST/EiJ MGP_CASTEiJ_G0028146
protein coding gene Chr4:138533168-138559115 (+)
CBA/J MGP_CBAJ_G0028678
protein coding gene Chr4:151470084-151499524 (+)
DBA/2J MGP_DBA2J_G0028828
protein coding gene Chr4:136465617-136493464 (+)
FVB/NJ MGP_FVBNJ_G0028795
protein coding gene Chr4:135493401-135520038 (+)
LP/J MGP_LPJ_G0028927
protein coding gene Chr4:142258513-142285469 (+)
NOD/ShiLtJ MGP_NODShiLtJ_G0028821
protein coding gene Chr4:155372825-155399534 (+)
NZO/HlLtJ MGP_NZOHlLtJ_G0029479
protein coding gene Chr4:140498835-140526065 (+)
PWK/PhJ MGP_PWKPhJ_G0027867
protein coding gene Chr4:133315370-133341859 (+)
SPRET/EiJ MGP_SPRETEiJ_G0027692
protein coding gene Chr4:136275557-136302968 (+)
WSB/EiJ MGP_WSBEiJ_G0028224
protein coding gene Chr4:140751558-140782049 (+)



Homology
more
  • Human Ortholog
    EMC1, ER membrane protein complex subunit 1
  • Vertebrate Orthologs
    3
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    EMC1, ER membrane protein complex subunit 1
  • Synonyms
    CAVIPMR, KIAA0090
  • Links
    NCBI Gene ID: 23065
    neXtProt AC: NX_Q8N766
    UniProt: Q8N766

  • Chr Location
    1p36.13; chr1:19215660-19251552 (-)  GRCh38

Human Diseases
more
  • Diseases
    1 with human EMC1 associations

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

Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    14 phenotypes from 1 allele in 2 genetic backgrounds
    7 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 with loss of expression in rods or cones show photoreceptor degeneration.
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 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
non-membrane-bounded 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
  • Tissues
  • cDNA Data
  • Literature Summary
  • Comparison Matrix
  • Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic ENSMUSG00000078517 Ensembl Gene Model | MGI Sequence Detail 26144 C57BL/6J ±  kb
    transcript ENSMUST00000179784 Ensembl | MGI Sequence Detail 6232 Not Applicable  
    polypeptide ENSMUSP00000137103 Ensembl | MGI Sequence Detail 997 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    • UniProt
      4 Sequences
    • Protein Ontology
      PR:000030474 ER membrane protein complex subunit 1
    • InterPro Domains
      IPR026895 ER membrane protein complex subunit 1
      IPR011678 ER membrane protein complex subunit 1, C-terminal
      IPR002372 Pyrrolo-quinoline quinone repeat
      IPR011047 Quinoprotein alcohol dehydrogenase-like superfamily
      IPR015943 WD40/YVTN repeat-like-containing domain superfamily
    Molecular
    Reagents
    less
    • All nucleic 16
      cDNA 15
      Primer pair 1

      Microarray probesets 6
    References
    more
    • Summaries
      All 34
      Developmental Gene Expression 2
      Gene Ontology 5
      Phenotypes 7
    • Earliest
      J:80000 The FANTOM Consortium and The RIKEN Genome Exploration Research Group Phase I & II Team, Analysis of the mouse transcriptome based on functional annotation of 60,770 full-length cDNAs. Nature. 2002;420:563-573
    • Latest
      J:345827 Li X, et al., Deletion of Emc1 in photoreceptor cells causes retinal degeneration in mice. FEBS J. 2023 Sep;290(17):4356-4370

    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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    last database update
    03/19/2024
    MGI 6.23
    The Jackson Laboratory