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Ikbkap Gene Detail
Summary
  • Symbol
    Ikbkap
  • Name
    inhibitor of kappa light polypeptide enhancer in B cells, kinase complex-associated protein
  • Synonyms
    3110040G09Rik, C78473, Elp1, IKAP
  • Feature Type
    protein coding gene
  • IDs
    MGI:1914544
    NCBI Gene: 230233
Location & Maps
more
  • Sequence Map
    Chr4:56749680-56802331 bp, - strand
  • From VEGA annotation of GRCm38

    Mouse Genome Browser

  • Download
    Sequence
      52652 bp   ±  kb flank

  • Genome Browsers
  • Genetic Map
    Chromosome 4, 31.66 cM
  • Mapping Data
    5 experiments
Homology
more
  • Human Ortholog
    IKBKAP, inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase complex-associated protein
  • Vertebrate Orthologs
    10
  • Human Ortholog
    IKBKAP, inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase complex-associated protein
    Orthology source: HomoloGene, HGNC
  • Synonyms
    DYS, ELP1, FD, IKAP, IKI3, TOT1
  • Links
    NCBI Gene ID: 8518
    neXtProt AC: NX_O95163

  • Chr Location
    9q31; chr9:108867520-108934328 (-)  GRCh38.p2

Human Diseases
more
  • Diseases
    1 with Ikbkap mouse models; 1 with human IKBKAP associations

Human Disease Mouse Models
       Neuropathy, Hereditary Sensory and Autonomic, Type III; HSAN3   OMIM: 223900 View 4 models
Click on a disease name to see all genes associated with that disease.

  • Mutations/Alleles
    4 with disease annotations
  • References
    4 with disease annotations
Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    92 phenotypes from 4 alleles in 5 genetic backgrounds
    24 phenotypes from multigenic genotypes
    7 images
    17 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.
  • All Mutations and Alleles
    18
  • Gene trapped
    10
  • Targeted
    7
  • Transgenic
    1
  • Incidental Mutations
Mice homozygous for a null allele exhibit embryonic lethality with arrested neural and vascular development.
Gene Ontology
(GO)
Classifications
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  • All GO Annotations
  • GO References
Molecular Function

carbohydrate derivative binding
cytoskeletal protein binding
DNA binding
enzyme regulator
hydrolase
ligase
lipid binding
oxidoreductase
receptor
receptor binding
RNA binding
transcription
transferase
transporter
Biological Process

nucleic acid-templated transcription
carbohydrate derivative metabolism
cell death
cell differentiation
cell proliferation
cellular component organization
establishment of localization
homeostatic process
immune system process
lipid metabolic process
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
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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
Interactions
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Sequences &
Gene Models
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Representative SequencesLengthStrain/SpeciesFlank
genomic OTTMUSG00000007272 VEGA Gene Model | MGI Sequence Detail 52652 C57BL/6J ±  kb
transcript OTTMUST00000016798 VEGA | MGI Sequence Detail 6160 Not Applicable  
polypeptide OTTMUSP00000007743 VEGA | MGI Sequence Detail 1333 Not Applicable  
For the selected sequence
Polymorphisms
less
  • SNPs within 2kb
    365 from dbSNP Build 142
Protein
Information
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  • UniProt
    2 Sequences
  • Protein Ontology
    PR:000008977 elongator complex protein 1
  • InterPro Domains
    IPR006849 Elongator complex subunit Iki3
    IPR011042 Six-bladed beta-propeller, TolB-like
Molecular
Reagents
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  • All nucleic 195
    cDNA 194
    Primer pair 1

    Microarray probesets 4
Other
Accession IDs
less
MGI:2140667
References
more
  • Summaries
    All 47
    Developmental Gene Expression 7
    Diseases 4
    Gene Ontology 5
    Phenotypes 17
  • 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:229459 Morini E, et al., Sensory and autonomic deficits in a new humanized mouse model of familial dysautonomia. Hum Mol Genet. 2016 Mar 15;25(6):1116-28

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
09/20/2016
MGI 6.05
The Jackson Laboratory