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Eml1 Gene Detail
Summary
  • Symbol
    Eml1
  • Name
    echinoderm microtubule associated protein like 1
  • Synonyms
    1110008N23Rik, A930030P13Rik, ELP79, heco
  • Feature Type
    protein coding gene
  • IDs
    MGI:1915769
    NCBI Gene: 68519
  • Alliance
    gene page
  • Transcription Start Sites
    19 TSS
Location &
Maps
more
  • Sequence Map
    Chr12:108337265-108505835 bp, + strand
    From NCBI annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 12, 59.46 cM
  • Mapping Data
    3 experiments
Strain
Comparison
more
  • SNPs within 2kb
    1693 from dbSNP Build 142
  • Strain Annotations
    18
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_1915769
 protein coding gene Chr12:108337216-108505876 (+)
129S1/SvImJ MGP_129S1SvImJ_G0020105
 protein coding gene Chr12:110487832-110675286 (+)
A/J MGP_AJ_G0020059
 protein coding gene Chr12:106302309-106474665 (+)
AKR/J MGP_AKRJ_G0020035
 protein coding gene Chr12:109389867-109564773 (+)
BALB/cJ MGP_BALBcJ_G0020045
 protein coding gene Chr12:106713544-106885302 (+)
C3H/HeJ MGP_C3HHeJ_G0019847
 protein coding gene Chr12:109831843-110008365 (+)
C57BL/6NJ MGP_C57BL6NJ_G0020490
 protein coding gene Chr12:113889055-114080552 (+)
CAROLI/EiJ MGP_CAROLIEiJ_G0018102
 protein coding gene Chr12:102839165-103008809 (+)
CAST/EiJ MGP_CASTEiJ_G0019389
 protein coding gene Chr12:104763270-104946971 (+)
CBA/J MGP_CBAJ_G0019814
 protein coding gene Chr12:118427469-118616309 (+)
DBA/2J MGP_DBA2J_G0019931
 protein coding gene Chr12:105838604-106015682 (+)
FVB/NJ MGP_FVBNJ_G0019916
 protein coding gene Chr12:104619109-104797979 (+)
LP/J MGP_LPJ_G0020006
 protein coding gene Chr12:110360228-110546840 (+)
NOD/ShiLtJ MGP_NODShiLtJ_G0019954
 protein coding gene Chr12:121619955-121799856 (+)
NZO/HlLtJ MGP_NZOHlLtJ_G0020519
 protein coding gene Chr12:108856358-109041210 (+)
PWK/PhJ MGP_PWKPhJ_G0019148
 protein coding gene Chr12:100454083-100625355 (+)
SPRET/EiJ MGP_SPRETEiJ_G0018952
 protein coding gene Chr12:103059781-103245190 (+)
WSB/EiJ MGP_WSBEiJ_G0019446
 protein coding gene Chr12:109793048-109977133 (+)



Homology
more
  • Human Ortholog
    EML1, EMAP like 1
  • Vertebrate Orthologs
    3
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    EML1, EMAP like 1
  • Synonyms
    BH, ELP79, EMAP, EMAP-1, EMAPL
  • Links
    NCBI Gene ID: 2009
    neXtProt AC: NX_O00423
    UniProt: O00423

  • Chr Location
    14q32.2; chr14:99737693-99942060 (+)  GRCh38
Human Diseases
more
  • Diseases
    2 with Eml1 mouse models; 1 with human EML1 associations

Human Disease Mouse Models
      
IDs
 View 2 models
      
IDs
 View 3 models
Click on a disease name to see all genes associated with that disease.

  • Mutations/Alleles
    3 with disease annotations
  • References
    4 with disease annotations
Mutations,
Alleles, and
Phenotypes
less
  • Phenotype Summary
    61 phenotypes from 5 alleles in 7 genetic backgrounds
    14 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 a spontaneous mutation exhibit subcortical band heterotopia associated with seizures, developmental delay and behavioral deficits.
Gene Ontology
(GO)
Classifications
less
  • All GO Annotations
    20
  • GO References
    6
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
    721
  • Tissues
    12
  • cDNA Data
    89
  • Literature Summary
    7
  • Comparison Matrix
    Gene Expression + Phenotype
    • Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic 68519 NCBI Gene Model | MGI Sequence Detail 168571 C57BL/6J ±  kb
    transcript NM_001364196 RefSeq | MGI Sequence Detail 4258 ZRU/MplStud  
    polypeptide Q05BC3 UniProt | EBI | MGI Sequence Detail 814 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    Molecular
    Reagents
    less
    • All nucleic 91
      cDNA 90
      Other 1

      Microarray probesets 3
    Other
    Accession IDs
    less
    MGI:2144897, MGI:2144910, MGI:2442730, MGI:2445787, MGI:5560738
    References
    more
    • Summaries
      All 45
      Developmental Gene Expression 7
      Diseases 4
      Gene Ontology 6
      Phenotypes 14
    • 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:322552 Poria D, et al., EML1 is essential for retinal photoreceptor migration and survival. Sci Rep. 2022 Feb 21;12(1):2897
    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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    Send questions and comments to User Support.     		last database update
    04/16/2024
    MGI 6.23     		The Jackson Laboratory