About   Help   FAQ
Ikbkap
Gene Detail
 Symbol
Name
ID
Ikbkap
inhibitor of kappa light polypeptide enhancer in B cells, kinase complex-associated protein
MGI:1914544
Synonyms 3110040G09Rik, C78473, Elp1, IKAP
Feature Type protein coding gene
Genetic Map
Chromosome 4
31.66 cM
Detailed Genetic Map ± 1 cM


Mapping data(5)
Sequence Map
Chr4:56749680-56802331 bp, - strand
From VEGA annotation of GRCm38

  52652 bp   ±  kb flank

VEGA Genome Browser | Ensembl Genome Browser | UCSC Browser | NCBI Map Viewer


Mouse Genome Browser
Vertebrate
homology
HomoloGene:2699  Vertebrate Homology Class
1 human; 1 mouse; 1 rat; 1 chimpanzee; 1 rhesus macaque; 1 cattle; 1 dog; 1 chicken; 1 western clawed frog; 1 zebrafish

Protein SuperFamily: IkappaB kinase complex, IKAP component
Gene Tree: Ikbkap

Human
homologs
Human Homolog IKBKAP, Inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase complex-associated protein
NCBI Gene ID 8518
neXtProt AC  NX_O95163
Human Synonyms  DYS, ELP1, FD, IKAP, IKI3, TOT1
Human Chr (Location)  9q31; chr9:108867520-108934328 (-)  GRCh38
Disease Associations  (1) Diseases Associated with Human IKBKAP
Mutations,
alleles, and
phenotypes
All mutations/alleles(16) : Gene trapped(10) Targeted(6)
Incidental mutations (data from Mutagenetix , APF )
 
Mice homozygous for a null allele exhibit embryonic lethality with arrested neural and vascular development.
 
Human Diseases Modeled Using Mouse Ikbkap (1)    Alleles Annotated to Human Diseases(3)    Phenotype Images(2)
Interactions
Ikbkap interacts with 308 markers (Mir1a-1, Mir1a-2, Mir1b, ...)
Gene Ontology
(GO)
classifications
All GO classifications: (17 annotations)
Process I-kappaB phosphorylation, positive regulation of cell migration, ...
Component cytoplasm, DNA-directed RNA polymerase II, holoenzyme, ...
Function ATP binding, DNA binding, ...
External Resources: FuncBase
Expression
Literature Summary: (7 records)
Data Summary: Results (12)    Tissues (12)   
Theiler Stages: 10, 18, 23, 25, 28
Assay TypeResults
Northern blot 12
cDNA source data(191)
External Resources: Allen Institute   GEO   Expression Atlas
Molecular
reagents
All nucleic(194) cDNA(193) Primer pair(1)
Microarray probesets(4)
Other database
links
VEGA Gene ModelOTTMUSG00000007272 (Evidence)
Ensembl Gene ModelENSMUSG00000028431 (Evidence)
Entrez Gene230233 (Evidence)
UniGene282743
DFCITC1574036, TC1594958, TC1597840
DoTSDT.101738534, DT.487618, DT.97362502
NIA Mouse Gene IndexU025084
Consensus CDS ProjectCCDS38765.1
International Mouse Knockout Project StatusIkbkap
Sequences
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 sequences
All sequences(48) RefSeq(3) UniProt(2)
Polymorphisms SNPs within 2kb(368 from dbSNP Build 137)
Protein-related
information
ResourceIDDescription
InterPro IPR006849 IKI3
InterPro IPR011042 Six-bladed beta-propeller, TolB-like
Protein Ontology PR:000008977 elongator complex protein 1
References (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:202989 George L, et al., Familial dysautonomia model reveals Ikbkap deletion causes apoptosis of Pax3+ progenitors and peripheral neurons. Proc Natl Acad Sci U S A. 2013 Nov 12;110(46):18698-703
All references(47)
Disease annotation references (2)
Other
accession IDs
MGI:2140667

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
Citing These Resources
Funding Information
Warranty Disclaimer & Copyright Notice
Send questions and comments to User Support.
last database update
08/26/2014
MGI 5.19
The Jackson Laboratory