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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 5
  • Elongator Acetyltransferase Complex Subunit 1 2 3
  • IkappaB Kinase Complex-Associated Protein 3 4
  • IKK Complex-Associated Protein 3 4
  • ELP1 3 4
  • IKAP 3 4
  • Dysautonomia (Riley-Day Syndrome, Hereditary Sensory Autonomic Neuropathy Type III) 2
  • Elongator Complex Protein 1 3
  • P150 4
  • IKI3 3
  • TOT1 3
  • DYS 3
  • FD 3

External Ids for IKBKAP Gene

Previous HGNC Symbols for IKBKAP Gene

  • DYS

Previous GeneCards Identifiers for IKBKAP Gene

  • GC09M102427
  • GC09M103361
  • GC09M105087
  • GC09M107010
  • GC09M107011
  • GC09M108709
  • GC09M110669
  • GC09M111629
  • GC09M081229

Summaries for IKBKAP Gene

Entrez Gene Summary for IKBKAP Gene

  • The protein encoded by this gene is a scaffold protein and a regulator for three different kinases involved in proinflammatory signaling. The encoded protein can bind NF-kappa-B-inducing kinase and I-kappa-B kinases through separate domains and assemble them into an active kinase complex. Mutations in this gene have been associated with familial dysautonomia. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jan 2016]

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 Dysautonomia, Familial and Dysautonomia. Among its related pathways are Chromatin organization and Transcription_NF-kB signaling pathway. GO annotations related to this gene include binding and RNA polymerase II core binding.

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

Regulatory Elements for IKBKAP Gene

Enhancers for IKBKAP Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH09F109096 1.3 Ensembl ENCODE 35.6 -165.6 -165570 6.5 HDGF PKNOX1 ARID4B FEZF1 ZNF548 FOS ZNF263 JUNB REST TBX21 IKBKAP CTNNAL1 FRRS1L TMEM245 FAM206A MIR32 ENSG00000199331 GC09M109081
GH09F108931 1 ENCODE 29.3 +0.7 695 3.5 HDGF PKNOX1 ARID4B SIN3A DMAP1 YY1 CBX5 ZNF143 FOS KLF13 IKBKAP FRRS1L CTNNAL1 FAM206A ACTL7A
GH09F109035 1.1 Ensembl ENCODE 26.9 -102.1 -102061 2.6 TBP THRB ZSCAN9 RAD21 RARA RFX5 YY1 RCOR1 FOS CREM IKBKAP CTNNAL1 TMEM245 ENSG00000199331 GC09M109043 PIR41041
GH09F109010 0.5 ENCODE 25.9 -78.5 -78481 5.4 PKNOX1 ATF1 ARID4B SIN3A FEZF1 DMAP1 ZNF48 BRCA1 ZNF2 GLIS2 FRRS1L IKBKAP CTNNAL1 TMEM245 ENSG00000199331 MIR32 GC09M109014 PIR44811
GH09F109113 0.8 FANTOM5 ENCODE 25.4 -183.2 -183191 9.0 PKNOX1 ARNT CREB3L1 WRNIP1 ARID4B SIN3A FEZF1 ZNF2 YY1 ZNF207 FRRS1L IKBKAP CTNNAL1 TMEM245 MIR32 ENSG00000199331 FAM206A GC09M109081
- Elite enhancer/Elite enhancer-gene association Download Table
Download GeneHancer data dump

Enhancers around IKBKAP on UCSC Golden Path with GeneCards custom track

Promoters for IKBKAP Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00001311069 128 2401 HDGF PKNOX1 MLX ARID4B SIN3A DMAP1 YY1 CBX5 ZNF143 FOS

Genomic Location for IKBKAP Gene

Chromosome:
9
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

Genes around IKBKAP on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
IKBKAP Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for IKBKAP Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence 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};

    Three dimensional structures from OCA and Proteopedia for IKBKAP Gene

neXtProt entry for IKBKAP Gene

Post-translational modifications for IKBKAP Gene

  • Ubiquitination at Lys 464, Lys 474, and Lys 706
  • Modification sites at PhosphoSitePlus

Other Protein References for IKBKAP Gene

Antibody Products

  • Cell Signaling Technology (CST) Antibodies for IKBKAP (IKBKAP)

No data available for DME Specific Peptides for IKBKAP Gene

Domains & Families for IKBKAP Gene

Gene Families for IKBKAP Gene

Protein Domains for IKBKAP Gene

Suggested Antigen Peptide Sequences for IKBKAP Gene

Graphical View of Domain Structure for InterPro Entry

O95163

UniProtKB/Swiss-Prot:

ELP1_HUMAN :
  • Belongs to the ELP1/IKA1 family.
Family:
  • Belongs to the ELP1/IKA1 family.
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:0004871 signal transducer activity TAS 9751059
GO:0005515 protein binding IPI 11714725
GO:0008607 phosphorylase kinase regulator activity IDA 11818576
genes like me logo Genes that share ontologies with IKBKAP: view
genes like me logo Genes that share phenotypes with IKBKAP: view

Human Phenotype Ontology for IKBKAP Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for IKBKAP Gene

MGI Knock Outs for IKBKAP:

Animal Model Products

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets 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 4
cytoskeleton 2
extracellular 2
mitochondrion 2
plasma membrane 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:0005634 nucleus IEA --
GO:0005730 nucleolus IDA 11714725
GO:0005737 cytoplasm IDA 11714725
GO:0008023 transcription elongation factor complex IDA 11714725
genes like me logo Genes that share ontologies with IKBKAP: view

Pathways & Interactions for IKBKAP Gene

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

Pathways by source for IKBKAP Gene

1 GeneTex pathway for IKBKAP Gene
1 Cell Signaling Technology pathway for IKBKAP Gene
1 GeneGo (Thomson Reuters) pathway for IKBKAP Gene

SIGNOR curated interactions for IKBKAP Gene

Activates:

Gene Ontology (GO) - Biological Process for IKBKAP Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0002098 tRNA wobble uridine modification IEA --
GO:0006351 transcription, DNA-templated IEA --
GO:0006355 regulation of transcription, DNA-templated IEA --
GO:0006357 regulation of transcription from RNA polymerase II promoter TAS 11714725
GO:0006368 transcription elongation from RNA polymerase II promoter TAS 11714725
genes like me logo Genes that share ontologies with IKBKAP: view

Drugs & Compounds for IKBKAP Gene

(3) Drugs for IKBKAP Gene - From: Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials

(2) Additional Compounds for IKBKAP Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
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:

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

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 from GTEx, Illumina, BioGPS, and SAGE for IKBKAP Gene

Protein differential expression in normal tissues from HIPED for IKBKAP Gene

This gene is overexpressed in Lymph node (7.6) and Testis (7.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for IKBKAP Gene



Protein tissue co-expression partners for IKBKAP Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of IKBKAP Gene:

IKBKAP

SOURCE GeneReport for Unigene cluster for IKBKAP Gene:

Hs.494738
genes like me logo Genes that share expression patterns with IKBKAP: view

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues and mRNA Expression by UniProt/SwissProt for IKBKAP Gene

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 34 35
  • 97.69 (n)
dog
(Canis familiaris)
Mammalia IKBKAP 34 35
  • 89.09 (n)
cow
(Bos Taurus)
Mammalia IKBKAP 34 35
  • 87.33 (n)
mouse
(Mus musculus)
Mammalia Ikbkap 34 16 35
  • 83.43 (n)
rat
(Rattus norvegicus)
Mammalia Ikbkap 34
  • 83.31 (n)
oppossum
(Monodelphis domestica)
Mammalia IKBKAP 35
  • 79 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia IKBKAP 35
  • 75 (a)
OneToOne
chicken
(Gallus gallus)
Aves IKBKAP 34 35
  • 68.42 (n)
lizard
(Anolis carolinensis)
Reptilia -- 35
  • 68 (a)
OneToMany
-- 35
  • 64 (a)
OneToMany
tropical clawed frog
(Silurana tropicalis)
Amphibia ikbkap 34
  • 65.35 (n)
zebrafish
(Danio rerio)
Actinopterygii ikbkap 34 35
  • 61.11 (n)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP003979 34
  • 45.77 (n)
fruit fly
(Drosophila melanogaster)
Insecta Elp1 34 35
  • 44.96 (n)
CG10535 36
  • 29 (a)
worm
(Caenorhabditis elegans)
Secernentea elpc-1 35
  • 22 (a)
OneToOne
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes IKI3 34 35 37
  • 46.4 (n)
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_AER047C 34
  • 44.61 (n)
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0E05237g 34
  • 43.05 (n)
thale cress
(Arabidopsis thaliana)
eudicotyledons ABO1 34
  • 43.43 (n)
rice
(Oryza sativa)
Liliopsida Os07g0563700 34
  • 44.25 (n)
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes iki3 34
  • 44.98 (n)
bread mold
(Neurospora crassa)
Ascomycetes NCU01486 34
  • 44.15 (n)
sea squirt
(Ciona savignyi)
Ascidiacea -- 35
  • 37 (a)
OneToOne
Species where no ortholog for IKBKAP was found in the sources mined by GeneCards:
  • 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

(2) 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
rs137853022 Neuropathy, hereditary sensory and autonomic, 3 (HSAN3) [MIM:223900], Pathogenic 108,900,303(-) TTCAC(A/C/G)GATTG nc-transcript-variant, reference, missense
rs111033171 Pathogenic 108,899,816(-) GTAAG(C/T)GCCAT intron-variant
rs28939712 Pathogenic 108,894,062(-) GGATC(C/T)CAAAG nc-transcript-variant, reference, missense
rs10979599 Uncertain significance 108,896,997(+) CTGGG(G/T)TTGTC nc-transcript-variant, reference, missense
rs146440397 Uncertain significance 108,882,130(+) CAGCC(C/T)CAAAG nc-transcript-variant, reference, missense

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

Variant ID Type Subtype PubMed ID
dgv199e180 CNV deletion 20482838
esv1329530 CNV deletion 17803354
esv2738904 CNV deletion 23290073
esv2738905 CNV deletion 23290073
esv2738907 CNV deletion 23290073
esv2738908 CNV deletion 23290073
esv2738909 CNV deletion 23290073
nsv1112485 CNV deletion 24896259
nsv416100 CNV deletion 16902084
nsv6659 CNV insertion 18451855

Variation tolerance for IKBKAP Gene

Residual Variation Intolerance Score: 74.7% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 20.53; 99.12% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for IKBKAP Gene

Human Gene Mutation Database (HGMD)
IKBKAP
SNPedia medical, phenotypic, and genealogical associations of SNPs for
IKBKAP

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for IKBKAP Gene

Disorders for IKBKAP Gene

MalaCards: The human disease database

(14) MalaCards diseases for IKBKAP Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
dysautonomia, familial
  • neuropathy, hereditary sensory and autonomic, type iii
dysautonomia
autonomic neuropathy
baroreflex failure
hyperlipoproteinemia type iv
  • endogenous hyperlipidaemia
- elite association - COSMIC cancer census association via MalaCards

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.

Relevant External Links for IKBKAP

Genetic Association Database (GAD)
IKBKAP
Human Genome Epidemiology (HuGE) Navigator
IKBKAP
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
IKBKAP
genes like me logo Genes that share disorders with IKBKAP: view

No data available for Genatlas for IKBKAP Gene

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 22 64
  2. Fine mapping of the 9q31 Hirschsprung's disease locus. (PMID: 20361209) Tang C.S. … Garcia-BarcelA^ M.M. (Hum. Genet. 2010) 3 22 46 64
  3. Investigation of genetic variants within candidate genes of the TNFRSF1B signalling pathway on the response to anti-TNF agents in a UK cohort of rheumatoid arthritis patients. (PMID: 19262425) Bowes J.D. … Barton A. (Pharmacogenet. Genomics 2009) 3 22 46 64
  4. Genetic variation in the nuclear factor kappaB pathway in relation to susceptibility to rheumatoid arthritis. (PMID: 18434448) Dieguez-Gonzalez R. … Gonzalez A. (Ann. Rheum. Dis. 2009) 3 22 46 64
  5. Genes for hereditary sensory and autonomic neuropathies: a genotype- phenotype correlation. (PMID: 19651702) Rotthier A. … Timmerman V. (Brain 2009) 3 22 46 64

Products for IKBKAP Gene

Sources for IKBKAP Gene

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