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Elp1 Gene Detail
Summary
  • Symbol
    Elp1
  • Name
    elongator complex protein 1
  • Synonyms
    3110040G09Rik, C78473, IKAP, Ikbkap
  • Feature Type
    protein coding gene
  • IDs
    MGI:1914544
    NCBI Gene: 230233
  • Alliance
  • Transcription Start Sites
    5 TSS
Location &
Maps
more
  • Sequence Map
    Chr4:56749680-56802331 bp, - strand
  • From NCBI annotation of GRCm38

    View this region in JBrowse

  • Genome Browsers
  • Genetic Map
    Chromosome 4, 31.66 cM
  • Mapping Data
    5 experiments
Strain
Comparison
more
  • SNPs within 2kb
    365 from dbSNP Build 142
  • Strain Annotations
    18
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_1914544
protein coding gene Chr4:56749680-56802331 (-)
129S1/SvImJ MGP_129S1SvImJ_G0028310
protein coding gene Chr4:55509661-55564717 (-)
A/J MGP_AJ_G0028271
protein coding gene Chr4:53389693-53442991 (-)
AKR/J MGP_AKRJ_G0028220
protein coding gene Chr4:54861636-54916145 (-)
BALB/cJ MGP_BALBcJ_G0028290
protein coding gene Chr4:53545630-53598509 (-)
C3H/HeJ MGP_C3HHeJ_G0028011
protein coding gene Chr4:55371805-55425027 (-)
C57BL/6NJ MGP_C57BL6NJ_G0028731
protein coding gene Chr4:57488187-57549185 (-)
CAROLI/EiJ MGP_CAROLIEiJ_G0026037
protein coding gene Chr4:50213793-50249012 (-)
CAST/EiJ MGP_CASTEiJ_G0027449
protein coding gene Chr4:55075956-55130202 (-)
CBA/J MGP_CBAJ_G0027976
protein coding gene Chr4:59472647-59531471 (-)
DBA/2J MGP_DBA2J_G0028126
protein coding gene Chr4:53297061-53350057 (-)
FVB/NJ MGP_FVBNJ_G0028093
protein coding gene Chr4:52507018-52560036 (-)
LP/J MGP_LPJ_G0028225
protein coding gene Chr4:55610999-55665972 (-)
NOD/ShiLtJ MGP_NODShiLtJ_G0028117
protein coding gene Chr4:62639722-62695243 (-)
NZO/HlLtJ MGP_NZOHlLtJ_G0028767
protein coding gene Chr4:55041312-55094646 (-)
PWK/PhJ MGP_PWKPhJ_G0027174
protein coding gene Chr4:53277348-53331278 (-)
SPRET/EiJ MGP_SPRETEiJ_G0027002
protein coding gene Chr4:54321648-54376084 (-)
WSB/EiJ MGP_WSBEiJ_G0027527
protein coding gene Chr4:54993401-55050133 (-)



Homology
more
  • Human Ortholog
    ELP1, elongator complex protein 1
  • Vertebrate Orthologs
    10
  • Human Ortholog
    ELP1, elongator complex protein 1
    Orthology source: HGNC, HomoloGene
  • Synonyms
    DYS, FD, IKAP, IKBKAP, IKI3, TOT1
  • Links
    NCBI Gene ID: 8518
    neXtProt AC: NX_O95163
    UniProt: O95163

  • Chr Location
    9q31.3; chr9:108867520-108934332 (-)  GRCh38.p7

Human Diseases
more
  • Diseases
    2 with Elp1 mouse models; 1 with human ELP1 associations

Human Disease Mouse Models
      
IDs
View 4 models
      
IDs
View 1 model
Click on a disease name to see all genes associated with that disease.

  • Mutations/Alleles
    5 with disease annotations
  • References
    4 with disease annotations
Mutations,
Alleles, and
Phenotypes
less
  • Phenotype Summary
    92 phenotypes from 4 alleles in 5 genetic backgrounds
    24 phenotypes from multigenic genotypes
    7 images
    24 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 a null allele exhibit embryonic lethality with arrested neural and vascular development.
Gene Ontology
(GO)
Classifications
less
  • 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 death
cell differentiation
cell 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
  • Tissues
  • cDNA Data
  • Literature Summary
  • Comparison Matrix
  • Interactions
    less
    Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic 230233 NCBI Gene Model | MGI Sequence Detail 52652 C57BL/6J ±  kb
    transcript NM_026079 RefSeq | MGI Sequence Detail 6160 C57BL/6  
    polypeptide Q7TT37 UniProt | EBI | MGI Sequence Detail 1333 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    Molecular
    Reagents
    less
    • All nucleic 196
      cDNA 195
      Primer pair 1

      Microarray probesets 4
    Other
    Accession IDs
    less
    MGI:2140667
    References
    more
    • Summaries
      All 55
      Developmental Gene Expression 9
      Diseases 4
      Gene Ontology 5
      Phenotypes 24
    • Earliest
      J:60984 Ko MS, et al., Large-scale cDNA analysis reveals phased gene expression patterns during preimplantation mouse development. Development. 2000 Apr;127(8):1737-49
    • Latest
      J:265719 Goffena J, et al., Elongator and codon bias regulate protein levels in mammalian peripheral neurons. Nat Commun. 2018 Mar 1;9(1):889

    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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    last database update
    11/27/2018
    MGI 6.13
    The Jackson Laboratory