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Emilin1 Gene Detail
Summary
  • Symbol
    Emilin1
  • Name
    elastin microfibril interfacer 1
  • Synonyms
    5830419M17Rik, EMILIN-1, gp115
  • Feature Type
    protein coding gene
  • IDs
    MGI:1926189
    NCBI Gene: 100952
  • Alliance
    gene page
  • Transcription Start Sites
    7 TSS
Location &
Maps
more
  • Sequence Map
    Chr5:31070746-31078621 bp, + strand
    From Ensembl annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 5, 16.90 cM
  • Mapping Data
    2 experiments
Strain
Comparison
more
  • SNPs within 2kb
    213 from dbSNP Build 142
  • Strain Annotations
    18
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_1926189
 protein coding gene Chr5:31070729-31078623 (+)
129S1/SvImJ MGP_129S1SvImJ_G0029400
 protein coding gene Chr5:28872177-28880074 (+)
A/J MGP_AJ_G0029366
 protein coding gene Chr5:27935326-27943212 (+)
AKR/J MGP_AKRJ_G0029317
 protein coding gene Chr5:29086879-29094776 (+)
BALB/cJ MGP_BALBcJ_G0029377
 protein coding gene Chr5:28456713-28464595 (+)
C3H/HeJ MGP_C3HHeJ_G0029098
 protein coding gene Chr5:29084882-29092768 (+)
C57BL/6NJ MGP_C57BL6NJ_G0029830
 protein coding gene Chr5:30649983-30657858 (+)
CAROLI/EiJ MGP_CAROLIEiJ_G0027068
 protein coding gene Chr5:25412882-25420763 (+)
CAST/EiJ MGP_CASTEiJ_G0028509
 protein coding gene Chr5:28178405-28186314 (+)
CBA/J MGP_CBAJ_G0029066
 protein coding gene Chr5:31223774-31231656 (+)
DBA/2J MGP_DBA2J_G0029215
 protein coding gene Chr5:28117192-28125067 (+)
FVB/NJ MGP_FVBNJ_G0029173
 protein coding gene Chr5:27530886-27538768 (+)
LP/J MGP_LPJ_G0029300
 protein coding gene Chr5:29336027-29343924 (+)
NOD/ShiLtJ MGP_NODShiLtJ_G0029202
 protein coding gene Chr5:32116554-32124440 (+)
NZO/HlLtJ MGP_NZOHlLtJ_G0029864
 protein coding gene Chr5:28586828-28594703 (+)
PWK/PhJ MGP_PWKPhJ_G0028233
 protein coding gene Chr5:27234887-27242826 (+)
SPRET/EiJ MGP_SPRETEiJ_G0028063
 protein coding gene Chr5:27959635-27967537 (+)
WSB/EiJ MGP_WSBEiJ_G0028589
 protein coding gene Chr5:28652122-28660001 (+)



Homology
more
  • Human Ortholog
    EMILIN1, elastin microfibril interfacer 1
  • Vertebrate Orthologs
    4
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    EMILIN1, elastin microfibril interfacer 1
  • Synonyms
    ATBFS, EMI, EMILIN, gp115, HMN10, HMND10
  • Links
    NCBI Gene ID: 11117
    neXtProt AC: NX_Q9Y6C2
    UniProt: Q9Y6C2

  • Chr Location
    2p23.3; chr2:27078615-27086403 (+)  GRCh38
Human Diseases
more
  • Diseases
    1 with human EMILIN1 associations

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

  • References
    1 with disease annotations
Mutations,
Alleles, and
Phenotypes
less
  • Phenotype Summary
    5 phenotypes from 1 allele in 2 genetic backgrounds
    2 phenotypes from multigenic genotypes
    37 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 disruptions in this gene display no goss abnormalities. However, histological defects occur in the skin and aorta relating to elastin fiber abnormalities.
Gene Ontology
(GO)
Classifications
less
  • All GO Annotations
    53
  • GO References
    18
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
    1076
  • Tissues
    244
  • cDNA Data
    115
  • Literature Summary
    24
  • Comparison Matrix
    Gene Expression + Phenotype
    • Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic ENSMUSG00000029163 Ensembl Gene Model | MGI Sequence Detail 7876 C57BL/6J ±  kb
    transcript ENSMUST00000031055 Ensembl | MGI Sequence Detail 3852 Not Applicable  
    polypeptide ENSMUSP00000031055 Ensembl | MGI Sequence Detail 1017 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    Molecular
    Reagents
    less
    • All nucleic 117
      cDNA 115
      Primer pair 2

      Microarray probesets 5
    Other
    Accession IDs
    less
    MGI:2141184, MGI:2141262
    References
    more
    • Summaries
      All 93
      Developmental Gene Expression 24
      Diseases 1
      Gene Ontology 18
      Phenotypes 37
    • Earliest
      J:5021 Batchelor AL, et al., A comparison of the mutagenic effectiveness of chronic neutron- and gamma-irradiation of mouse spermatogonia. Mutat Res. 1966 Jun;3(3):218-29
    • Latest
      J:345111 Jacobson KR, et al., Extracellular matrix protein composition dynamically changes during murine forelimb development. iScience. 2024 Feb 16;27(2):108838
    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