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Ermp1 Gene Detail
Summary
  • Symbol
    Ermp1
  • Name
    endoplasmic reticulum metallopeptidase 1
  • Synonyms
    b2b2633Clo, D19Ertd410e, D19Wsu12e, MGC:28180, mKIAA1815
  • Feature Type
    protein coding gene
  • IDs
    MGI:106250
    NCBI Gene: 226090
  • Alliance
    gene page
  • Transcription Start Sites
    5 TSS
Location &
Maps
more
  • Sequence Map
    Chr19:29609880-29648510 bp, - strand
  • From NCBI annotation of GRCm38

    View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 19, 24.17 cM
  • Mapping Data
    3 experiments
Strain
Comparison
more
  • SNPs within 2kb
    183 from dbSNP Build 142
  • Strain Annotations
    18
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_106250
 protein coding gene Chr19:29608214-29648510 (-)
129S1/SvImJ MGP_129S1SvImJ_G0025025
 protein coding gene Chr19:28074285-28125532 (-)
A/J MGP_AJ_G0025002
 protein coding gene Chr19:26662840-26703809 (-)
AKR/J MGP_AKRJ_G0024970
 protein coding gene Chr19:27631583-27671381 (-)
BALB/cJ MGP_BALBcJ_G0025001
 protein coding gene Chr19:26716799-26760029 (-)
C3H/HeJ MGP_C3HHeJ_G0024757
 protein coding gene Chr19:27600852-27647282 (-)
C57BL/6NJ MGP_C57BL6NJ_G0025442
 protein coding gene Chr19:28852256-28894333 (-)
CAROLI/EiJ MGP_CAROLIEiJ_G0022861
 protein coding gene Chr19:26634124-26674676 (-)
CAST/EiJ MGP_CASTEiJ_G0024227
 protein coding gene Chr19:27443418-27483484 (-)
CBA/J MGP_CBAJ_G0024735
 protein coding gene Chr19:30204580-30249895 (-)
DBA/2J MGP_DBA2J_G0024867
 protein coding gene Chr19:26617623-26661725 (-)
FVB/NJ MGP_FVBNJ_G0024829
 protein coding gene Chr19:26473298-26513379 (-)
LP/J MGP_LPJ_G0024952
 protein coding gene Chr19:28073120-28121095 (-)
NOD/ShiLtJ MGP_NODShiLtJ_G0024856
 protein coding gene Chr19:30142094-30184158 (-)
NZO/HlLtJ MGP_NZOHlLtJ_G0025497
 protein coding gene Chr19:27646672-27697315 (-)
PWK/PhJ MGP_PWKPhJ_G0023975
 protein coding gene Chr19:26294142-26335067 (-)
SPRET/EiJ MGP_SPRETEiJ_G0023779
 protein coding gene Chr19:26923965-26969842 (-)
WSB/EiJ MGP_WSBEiJ_G0024294
 protein coding gene Chr19:27698513-27738725 (-)



Homology
more
  • Human Ortholog
    ERMP1, endoplasmic reticulum metallopeptidase 1
  • Vertebrate Orthologs
    9
  • Human Ortholog
    ERMP1, endoplasmic reticulum metallopeptidase 1
    Orthology source: HomoloGene, HGNC
  • Synonyms
    bA207C16.3, FXNA, KIAA1815
  • Links
    NCBI Gene ID: 79956
    neXtProt AC: NX_Q7Z2K6
    UniProt: Q7Z2K6

  • Chr Location
    9p24.1; chr9:5764061-5867091 (-)  GRCh38.p7
Mutations,
Alleles, and
Phenotypes
less
  • Phenotype Summary
    10 phenotypes from 2 alleles in 2 genetic backgrounds
    11 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 mutation exhibit cardiovascular defects including double outlet right ventricle, aortic arch anomalies and vascular ring, as well as anopthalmia, renal dysplasia, and craniofacial anomalies including short snout, cleft palate and cleft lip.
Gene Ontology
(GO)
Classifications
less
  • All GO Annotations
    9
  • GO References
    2
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 population 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
    83
  • Tissues
    49
  • cDNA Data
    150
  • Literature Summary
    4
  • Comparison Matrix
    Gene Expression + Phenotype
    • Interactions
    less
    Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic 226090 NCBI Gene Model | MGI Sequence Detail 38631 C57BL/6J ±  kb
    transcript NM_001362131 RefSeq | MGI Sequence Detail 5399 C57BL/6  
    polypeptide Q3UVK0 UniProt | EBI | MGI Sequence Detail 898 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    Molecular
    Reagents
    less
    • All nucleic 152
      cDNA 150
      Primer pair 2

      Microarray probesets 7
    Other
    Accession IDs
    less
    MGD-MRK-33942, MGI:1196241, MGI:5615213
    References
    more
    • Summaries
      All 43
      Developmental Gene Expression 4
      Gene Ontology 2
      Phenotypes 11
    • Earliest
      J:50869 Ko MSH, et al., Genome-wide mapping of unselected transcripts from extraembryonic tissue of 7.5-day mouse embryos reveals enrichment in the t-complex and under-representation on the X chromosome. Hum Mol Genet. 1998 Nov;7(12):1967-78
    • Latest
      J:246066 Sundberg JP, et al., Systematic screening for skin, hair, and nail abnormalities in a large-scale knockout mouse program. PLoS One. 2017;12(7):e0180682
    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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    Send questions and comments to User Support.     		last database update
    03/13/2019
    MGI 6.13     		The Jackson Laboratory