About   Help   FAQ
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
    gene page
  • Transcription Start Sites
    6 TSS
Location &
Maps
more
  • Sequence Map
    Chr4:56749680-56802331 bp, - strand
    From Ensembl annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 4, 31.66 cM
  • Mapping Data
    5 experiments
Strain
Comparison
more
  • SNPs within 2kb
    1457 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 Chr4:56746547-56802565 (-)
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 acetyltransferase complex subunit 1
  • Vertebrate Orthologs
    3
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    ELP1, elongator acetyltransferase complex subunit 1
  • Synonyms
    DYS, FD, IKAP, IKBKAP, IKI3, TOT1
  • Links
    NCBI Gene ID: 8518
    neXtProt AC: NX_O95163
    UniProt: O95163

  • Chr Location
    9q31.3; chr9:108866898-108934328 (-)  GRCh38
Human Diseases
more
  • Diseases
    2 with Elp1 mouse models; 5 with human ELP1 associations

Human Disease Mouse Models
      
IDs
 View 5 models
      
IDs
 View 1 model
      
IDs
IDs
IDs
IDs
Click on a disease name to see all genes associated with that disease.

  • Mutations/Alleles
    5 with disease annotations
  • References
    5 with disease annotations
Mutations,
Alleles, and
Phenotypes
less
  • Phenotype Summary
    102 phenotypes from 6 alleles in 7 genetic backgrounds
    33 phenotypes from multigenic genotypes
    7 images
    35 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 null allele exhibit embryonic lethality with arrested neural and vascular development.
Gene Ontology
(GO)
Classifications
less
  • All GO Annotations
    16
  • GO References
    8
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
    811
  • Tissues
    38
  • cDNA Data
    192
  • Literature Summary
    18
  • Comparison Matrix
    Gene Expression + Phenotype
    • Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic ENSMUSG00000028431 Ensembl Gene Model | MGI Sequence Detail 52652 C57BL/6J ±  kb
    transcript ENSMUST00000030140 Ensembl | MGI Sequence Detail 6160 Not Applicable  
    polypeptide ENSMUSP00000030140 Ensembl | MGI Sequence Detail 1333 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    Molecular
    Reagents
    less
    • All nucleic 201
      cDNA 195
      Primer pair 6

      Microarray probesets 4
    Other
    Accession IDs
    less
    MGI:2140667, MGI:6189190
    References
    more
    • Summaries
      All 76
      Developmental Gene Expression 18
      Diseases 5
      Gene Ontology 8
      Phenotypes 35
    • 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:352603 Arnskotter F, et al., Loss of Elp1 in cerebellar granule cell progenitors models ataxia phenotype of Familial Dysautonomia. Neurobiol Dis. 2024 Sep;199:106600
    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
    Warranty Disclaimer, Privacy Notice, Licensing, & Copyright
    Send questions and comments to User Support.     		last database update
    11/12/2024
    MGI 6.24     		The Jackson Laboratory