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Aliases for IKBKAP Gene

Aliases for IKBKAP Gene

  • Inhibitor Of Kappa Light Polypeptide Gene Enhancer In B-Cells, Kinase Complex-Associated Protein 2 3
  • IKAP 3 4 6
  • Elongator Acetyltransferase Complex Subunit 1 2 3
  • IkappaB Kinase Complex-Associated Protein 3 4
  • IKK Complex-Associated Protein 3 4
  • P150 3 4
  • ELP1 3 4
  • Dysautonomia (Riley-Day Syndrome, Hereditary Sensory Autonomic Neuropathy Type III) 2
  • Elongator Complex Protein 1 3
  • IKI3 3
  • TOT1 3
  • DYS 3
  • FD 3

External Ids for IKBKAP Gene

Previous Symbols for IKBKAP Gene

  • DYS

Summaries for IKBKAP Gene

Entrez Gene Summary for IKBKAP Gene

  • The protein encoded by this gene is a scaffold protein and a regulator for 3 different kinases involved in proinflammatory signaling. This encoded protein can bind NF-kappa-B-inducing kinase (NIK) and IKKs through separate domains and assemble them into an active kinase complex. Mutations in this gene have been associated with familial dysautonomia. [provided by RefSeq, Jul 2008]

GeneCards Summary for IKBKAP Gene

IKBKAP (Inhibitor Of Kappa Light Polypeptide Gene Enhancer In B-Cells, Kinase Complex-Associated Protein) is a Protein Coding gene. Diseases associated with IKBKAP include baroreflex failure and dysautonomia. Among its related pathways are Chromatin Regulation / Acetylation and Transcription_NF-kB signaling pathway. GO annotations related to this gene include signal transducer activity and phosphorylase kinase regulator activity.

UniProtKB/Swiss-Prot for IKBKAP Gene

  • May act as a scaffold protein that may assemble active IKK-MAP3K14 complexes (IKKA, IKKB and MAP3K14/NIK)

  • Acts as subunit of the RNA polymerase II elongator complex, which is a histone acetyltransferase component of the RNA polymerase II (Pol II) holoenzyme and is involved in transcriptional elongation. Elongator may play a role in chromatin remodeling and is involved in acetylation of histones H3 and probably H4. Involved in cell migration. Involved in neurogenesis (By similarity). Regulates the migration and branching of projection neurons in the developing cerebral cortex, through a process depending on alpha-tubulin acetylation (By similarity).

No data available for Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for IKBKAP Gene

Genomics for IKBKAP Gene

Genomic Location for IKBKAP Gene

Start:
108,867,517 bp from pter
End:
108,934,328 bp from pter
Size:
66,812 bases
Orientation:
Minus strand

Genomic View for IKBKAP Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for IKBKAP Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for IKBKAP Gene

Regulatory Elements for IKBKAP Gene

Proteins for IKBKAP Gene

  • Protein details for IKBKAP Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    O95163-ELP1_HUMAN
    Recommended name:
    Elongator complex protein 1
    Protein Accession:
    O95163
    Secondary Accessions:
    • Q5JSV2
    • Q9H327
    • Q9UG87

    Protein attributes for IKBKAP Gene

    Size:
    1332 amino acids
    Molecular mass:
    150254 Da
    Quaternary structure:
    • Interacts preferentially with MAP3K14/NIK followed by IKK-alpha and IKK-beta. Component of the RNA polymerase II elongator complex (Elongator), which consists of IKBKAP/ELP1, STIP1/ELP2, ELP3, ELP4, ELP5 and ELP6. Elongator associates with the C-terminal domain (CTD) of Pol II largest subunit. Interacts with ELP3.
    SequenceCaution:
    • Sequence=CAB43219.1; Type=Frameshift; Positions=1286; Evidence={ECO:0000305};

neXtProt entry for IKBKAP Gene

Proteomics data for IKBKAP Gene at MOPED

Post-translational modifications for IKBKAP Gene

  • Modification sites at PhosphoSitePlus
  • Ubiquitination at Lys464, Lys474, and Lys706

Other Protein References for IKBKAP Gene

ENSEMBL proteins:
Reactome Protein details:
REFSEQ proteins:

No data available for DME Specific Peptides for IKBKAP Gene

Domains for IKBKAP Gene

Gene Families for IKBKAP Gene

HGNC:
  • ELP :Elongator acetyltransferase complex subunits

Protein Domains for IKBKAP Gene

UniProtKB/Swiss-Prot:

ELP1_HUMAN
Family:
  • Belongs to the ELP1/IKA1 family.:
    • O95163
genes like me logo Genes that share domains with IKBKAP: view

Function for IKBKAP Gene

Molecular function for IKBKAP Gene

UniProtKB/Swiss-Prot Function: May act as a scaffold protein that may assemble active IKK-MAP3K14 complexes (IKKA, IKKB and MAP3K14/NIK)
UniProtKB/Swiss-Prot Function: Acts as subunit of the RNA polymerase II elongator complex, which is a histone acetyltransferase component of the RNA polymerase II (Pol II) holoenzyme and is involved in transcriptional elongation. Elongator may play a role in chromatin remodeling and is involved in acetylation of histones H3 and probably H4. Involved in cell migration. Involved in neurogenesis (By similarity). Regulates the migration and branching of projection neurons in the developing cerebral cortex, through a process depending on alpha-tubulin acetylation (By similarity).

Gene Ontology (GO) - Molecular Function for IKBKAP Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000993 contributes_to RNA polymerase II core binding IDA 11714725
GO:0003677 DNA binding --
GO:0004871 signal transducer activity TAS 9751059
GO:0005488 binding --
GO:0005515 protein binding IPI 11714725
genes like me logo Genes that share ontologies with IKBKAP: view
genes like me logo Genes that share phenotypes with IKBKAP: view

Animal Models for IKBKAP Gene

MGI Knock Outs for IKBKAP:

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targeting and HOMER Transcription for IKBKAP Gene

Localization for IKBKAP Gene

Subcellular locations from UniProtKB/Swiss-Prot for IKBKAP Gene

Cytoplasm. Nucleus.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for IKBKAP Gene COMPARTMENTS Subcellular localization image for IKBKAP gene
Compartment Confidence
nucleus 5
cytosol 3
cytoskeleton 2
plasma membrane 2
extracellular 1
mitochondrion 1

Gene Ontology (GO) - Cellular Components for IKBKAP Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000123 histone acetyltransferase complex IDA 11714725
GO:0005730 nucleolus IDA 11714725
GO:0005737 cytoplasm IDA --
GO:0008023 transcription elongation factor complex IDA 11714725
GO:0016591 DNA-directed RNA polymerase II, holoenzyme --
genes like me logo Genes that share ontologies with IKBKAP: view

Pathways for IKBKAP Gene

genes like me logo Genes that share pathways with IKBKAP: view

Pathways by source for IKBKAP Gene

1 GeneGo (Thomson Reuters Life Sciences Research) pathway for IKBKAP Gene
1 Cell Signaling Technology pathway for IKBKAP Gene
1 BioSystems pathway for IKBKAP Gene

Gene Ontology (GO) - Biological Process for IKBKAP Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006325 chromatin organization TAS --
GO:0006357 regulation of transcription from RNA polymerase II promoter TAS 11714725
GO:0006368 transcription elongation from RNA polymerase II promoter TAS 11714725
GO:0006461 protein complex assembly TAS 9751059
GO:0006468 protein phosphorylation TAS 9751059
genes like me logo Genes that share ontologies with IKBKAP: view

Compounds for IKBKAP Gene

(5) Novoseek inferred chemical compound relationships for IKBKAP Gene

Compound -log(P) Hits PubMed IDs
tocotrienol 82 2
cytokinin 60.5 11
egcg 49.2 5
threonine 8.91 1
serine 0 1
genes like me logo Genes that share compounds with IKBKAP: view

Transcripts for IKBKAP Gene

Unigene Clusters for IKBKAP Gene

Inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase complex-associated protein:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for IKBKAP Gene

ExUns: 1a · 1b · 1c ^ 2a · 2b ^ 3 ^ 4 ^ 5a · 5b ^ 6 ^ 7a · 7b ^ 8 ^ 9a · 9b · 9c ^ 10a · 10b ^ 11a · 11b ^ 12a · 12b ^ 13 ^ 14 ^ 15a · 15b ^
SP1: - -
SP2:
SP3:
SP4:
SP5: - -
SP6: -
SP7:
SP8: - - - - - - - - - - - - - - - - - - - - - - -
SP9: -
SP10: - -
SP11:

ExUns: 16 ^ 17 ^ 18 ^ 19 ^ 20 ^ 21 ^ 22 ^ 23 ^ 24 ^ 25 ^ 26 ^ 27a · 27b · 27c ^ 28a · 28b ^ 29 ^ 30 ^ 31 ^ 32 ^ 33 ^ 34 ^ 35 ^ 36 ^ 37a · 37b ^
SP1: - -
SP2: - -
SP3: -
SP4: -
SP5:
SP6:
SP7:
SP8: - - - - - - - - -
SP9:
SP10:
SP11: - -

ExUns: 38a · 38b · 38c
SP1:
SP2:
SP3:
SP4:
SP5:
SP6:
SP7:
SP8:
SP9:
SP10:
SP11:

Relevant External Links for IKBKAP Gene

GeneLoc Exon Structure for
IKBKAP
ECgene alternative splicing isoforms for
IKBKAP

Expression for IKBKAP Gene

mRNA expression in normal human tissues for IKBKAP Gene

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, MOPED, and MaxQB for IKBKAP Gene

SOURCE GeneReport for Unigene cluster for IKBKAP Gene Hs.494738

genes like me logo Genes that share expressions with IKBKAP: view

Orthologs for IKBKAP Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for IKBKAP Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia IKBKAP 36
  • 97.69 (n)
  • 96.64 (a)
IKBKAP 37
  • 99 (a)
OneToOne
cow
(Bos Taurus)
Mammalia IKBKAP 36
  • 87.33 (n)
  • 86.1 (a)
IKBKAP 37
  • 86 (a)
OneToOne
dog
(Canis familiaris)
Mammalia IKBKAP 36
  • 89.09 (n)
  • 88.74 (a)
IKBKAP 37
  • 89 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Ikbkap 36
  • 83.43 (n)
  • 81.2 (a)
Ikbkap 16
Ikbkap 37
  • 81 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia IKBKAP 37
  • 79 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia IKBKAP 37
  • 75 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Ikbkap 36
  • 83.31 (n)
  • 81.28 (a)
chicken
(Gallus gallus)
Aves IKBKAP 36
  • 68.42 (n)
  • 66.69 (a)
IKBKAP 37
  • 66 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia -- 37
  • 64 (a)
OneToMany
-- 37
  • 68 (a)
OneToMany
tropical clawed frog
(Silurana tropicalis)
Amphibia ikbkap 36
  • 65.35 (n)
  • 62.42 (a)
zebrafish
(Danio rerio)
Actinopterygii ikbkap 36
  • 61.11 (n)
  • 59.53 (a)
ikbkap 37
  • 62 (a)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP003979 36
  • 45.77 (n)
  • 37.74 (a)
fruit fly
(Drosophila melanogaster)
Insecta Elp1 36
  • 44.96 (n)
  • 35.3 (a)
Elp1 37
  • 33 (a)
OneToOne
CG10535 38
  • 29 (a)
worm
(Caenorhabditis elegans)
Secernentea elpc-1 37
  • 22 (a)
OneToOne
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_AER047C 36
  • 44.61 (n)
  • 33.03 (a)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes IKI3 36
  • 46.4 (n)
  • 36.07 (a)
IKI3 37
  • 28 (a)
OneToOne
IKI3 39
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0E05237g 36
  • 43.05 (n)
  • 31.72 (a)
thale cress
(Arabidopsis thaliana)
eudicotyledons ABO1 36
  • 43.43 (n)
  • 30.73 (a)
rice
(Oryza sativa)
Liliopsida Os07g0563700 36
  • 44.25 (n)
  • 31.33 (a)
bread mold
(Neurospora crassa)
Ascomycetes NCU01486 36
  • 44.15 (n)
  • 34.46 (a)
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes iki3 36
  • 44.98 (n)
  • 31.89 (a)
sea squirt
(Ciona savignyi)
Ascidiacea -- 37
  • 37 (a)
OneToOne
Species with no ortholog for IKBKAP:
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for IKBKAP Gene

ENSEMBL:
Gene Tree for IKBKAP (if available)
TreeFam:
Gene Tree for IKBKAP (if available)

Paralogs for IKBKAP Gene

Selected SIMAP similar genes for IKBKAP Gene using alignment to 5 proteins:

genes like me logo Genes that share paralogs with IKBKAP: view

No data available for Paralogs for IKBKAP Gene

Variants for IKBKAP Gene

Sequence variations from dbSNP and Humsavar for IKBKAP Gene

SNP ID Clin Chr 09 pos Sequence Context AA Info Type MAF
rs2850 -- 108,871,086(+) TAGCA(C/G)GAATT intron-variant
rs725036 -- 108,907,977(-) ATGGG(A/G)ATGTA intron-variant
rs744980 -- 108,928,108(-) gcagt(A/G)caaaa intron-variant
rs754333 -- 108,924,616(+) TCCTG(C/T)ACAGC intron-variant
rs838818 -- 108,930,852(-) ATGCC(A/G)TGTTA intron-variant

Structural Variations from Database of Genomic Variants (DGV) for IKBKAP Gene

Variant ID Type Subtype PubMed ID
nsv6659 CNV Insertion 18451855
esv2738904 CNV Deletion 23290073
esv2738905 CNV Deletion 23290073
esv2738907 CNV Deletion 23290073
esv2738908 CNV Deletion 23290073
dgv199e180 CNV Deletion 20482838
esv2738909 CNV Deletion 23290073
esv1329530 CNV Deletion 17803354
nsv416100 CNV Loss 16902084

Relevant External Links for IKBKAP Gene

HapMap Linkage Disequilibrium report
IKBKAP
Human Gene Mutation Database (HGMD)
IKBKAP
Locus Specific Mutation Databases (LSDB)
IKBKAP

Disorders for IKBKAP Gene

(1) OMIM Diseases for IKBKAP Gene (603722)

UniProtKB/Swiss-Prot

ELP1_HUMAN
  • Neuropathy, hereditary sensory and autonomic, 3 (HSAN3) [MIM:223900]: A form of hereditary sensory and autonomic neuropathy, a genetically and clinically heterogeneous group of disorders characterized by degeneration of dorsal root and autonomic ganglion cells, and by sensory and/or autonomic abnormalities. HSAN3 patients manifest a variety of symptoms such as alacrima, decreased taste, decreased sensitivity to pain and temperature, vasomotor instability, hypoactive or absent deep tendon reflexes, vomiting crises, and gastrointestinal dysfunction. {ECO:0000269 PubMed:11179008, ECO:0000269 PubMed:11179021}. Note=The disease is caused by mutations affecting the gene represented in this entry.

(4) University of Copenhagen DISEASES for IKBKAP Gene

(11) Novoseek inferred disease relationships for IKBKAP Gene

Disease -log(P) Hits PubMed IDs
dysautonomia familial 98.6 37
neuropathy congenital sensory 86.1 2
sensory neuropathy hereditary 78.1 1
autonomic neuropathy 75.3 3
familial disorder 63.8 2

Relevant External Links for IKBKAP

GeneTests
IKBKAP
GeneReviews
IKBKAP
Genetic Association Database (GAD)
IKBKAP
Human Genome Epidemiology (HuGE) Navigator
IKBKAP
genes like me logo Genes that share disorders with IKBKAP: view

Publications for IKBKAP Gene

  1. Tissue-specific expression of a splicing mutation in the IKBKAP gene causes familial dysautonomia. (PMID: 11179008) Slaugenhaupt S.A. … Gusella J.F. (Am. J. Hum. Genet. 2001) 2 3 4 23
  2. Familial dysautonomia is caused by mutations of the IKAP gene. (PMID: 11179021) Anderson S.L. … Rubin B.Y. (Am. J. Hum. Genet. 2001) 3 4 23
  3. Purification and characterization of the human elongator complex. (PMID: 11714725) Hawkes N.A. … Svejstrup J.Q. (J. Biol. Chem. 2002) 3 4 23
  4. The role of the IKAP gene polymorphisms in atopic diseases in the middle European population. (PMID: 12774215) SchA1ller M. … VA!cha J. (J. Hum. Genet. 2003) 3 23 49
  5. Association of sixty-one non-synonymous polymorphisms in forty-one hypertension candidate genes with blood pressure variation and hypertension. (PMID: 17137217) Kokubo Y. … Miyata T. (Hypertens. Res. 2006) 3 23 49

Products for IKBKAP Gene

Sources for IKBKAP Gene

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