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IKBKAP inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase complex-associated protein [ Homo sapiens (human) ]

Gene ID: 8518, updated on 13-Jan-2015
Official Symbol
IKBKAPprovided by HGNC
Official Full Name
inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase complex-associated proteinprovided by HGNC
Primary source
HGNC:HGNC:5959
Locus tag
RP11-3J11.4
See related
Ensembl:ENSG00000070061; HPRD:04763; MIM:603722; Vega:OTTHUMG00000020465
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
FD; DYS; ELP1; IKAP; IKI3; TOT1
Summary
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]
Orthologs
See IKBKAP in MapViewer
Location:
9q31
Exon count:
37
Annotation release Status Assembly Chr Location
106 current GRCh38 (GCF_000001405.26) 9 NC_000009.12 (108867520..108934328, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 9 NC_000009.11 (111629800..111696608, complement)

Chromosome 9 - NC_000009.12Genomic Context describing neighboring genes Neighboring gene actin-like 7B Neighboring gene actin-like 7A Neighboring gene family with sequence similarity 206, member A Neighboring gene catenin (cadherin-associated protein), alpha-like 1 Neighboring gene RNA, 5.8S ribosomal pseudogene 3

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

  • Chromatin modifying enzymes, organism-specific biosystem (from REACTOME)
    Chromatin modifying enzymes, organism-specific biosystemEukaryotic DNA is associated with histone proteins and organized into a complex nucleoprotein structure called chromatin. This structure decreases the accessibility of DNA but also helps to protect i...
  • Chromatin organization, organism-specific biosystem (from REACTOME)
    Chromatin organization, organism-specific biosystemChromatin organization refers to the composition and conformation of complexes between DNA, protein and RNA. It is determined by processes that result in the specification, formation or maintenance o...
  • HATs acetylate histones, organism-specific biosystem (from REACTOME)
    HATs acetylate histones, organism-specific biosystemHistone acetyltransferases (HATs) involved in histone modifications are referred to as A-type or nuclear HATs. They can be grouped into at least four families based on sequence conservation within th...
  • TNF-alpha/NF-kB Signaling Pathway, organism-specific biosystem (from WikiPathways)
    TNF-alpha/NF-kB Signaling Pathway, organism-specific biosystem"The Tumor Necrosis Factor alpha is a proinflammatory cytokine belonging to the TNF superfamily. It signals through 2 separate receptors - TNFRSF1A and TNFRSF1B, both members of the TNF receptor supe...
Products Interactant Other Gene Complex Source Pubs Description

Markers

Homology

Clone Names

  • FLJ12497, DKFZp781H1425

Gene Ontology Provided by GOA

Function Evidence Code Pubs
contributes_to RNA polymerase II core binding IDA
Inferred from Direct Assay
more info
PubMed 
phosphorylase kinase regulator activity IDA
Inferred from Direct Assay
more info
PubMed 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
signal transducer activity TAS
Traceable Author Statement
more info
PubMed 
Process Evidence Code Pubs
chromatin organization TAS
Traceable Author Statement
more info
 
immune response TAS
Traceable Author Statement
more info
PubMed 
positive regulation of cell migration ISS
Inferred from Sequence or Structural Similarity
more info
 
protein complex assembly TAS
Traceable Author Statement
more info
PubMed 
protein phosphorylation TAS
Traceable Author Statement
more info
PubMed 
regulation of protein kinase activity IDA
Inferred from Direct Assay
more info
PubMed 
regulation of protein kinase activity TAS
Traceable Author Statement
more info
PubMed 
regulation of transcription from RNA polymerase II promoter IDA
Inferred from Direct Assay
more info
PubMed 
regulation of transcription from RNA polymerase II promoter TAS
Traceable Author Statement
more info
PubMed 
signal transduction TAS
Traceable Author Statement
more info
PubMed 
transcription elongation from RNA polymerase II promoter TAS
Traceable Author Statement
more info
PubMed 
Component Evidence Code Pubs
Elongator holoenzyme complex IDA
Inferred from Direct Assay
more info
PubMed 
cytoplasm IDA
Inferred from Direct Assay
more info
 
histone acetyltransferase complex IDA
Inferred from Direct Assay
more info
PubMed 
nucleolus IDA
Inferred from Direct Assay
more info
PubMed 
transcription elongation factor complex IDA
Inferred from Direct Assay
more info
PubMed 
Preferred Names
elongator complex protein 1
Names
elongator complex protein 1
p150
IKK complex-associated protein
ikappaB kinase complex-associated protein
elongator acetyltransferase complex subunit 1

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_008788.1 

    Range
    5001..71809
    Download
    GenBank, FASTA, Sequence Viewer (Graphics), LRG_251

mRNA and Protein(s)

  1. NM_003640.3NP_003631.2  elongator complex protein 1

    See proteins identical to NP_003631.2

    Status: REVIEWED

    Source sequence(s)
    AF153419, AK289962, BC033094, BF968300, DA400136
    Consensus CDS
    CCDS6773.1
    UniProtKB/Swiss-Prot
    O95163
    UniProtKB/TrEMBL
    Q8N516
    Related
    ENSP00000363779, OTTHUMP00000021869, ENST00000374647, OTTHUMT00000053574
    Conserved Domains (2) summary
    COG5290
    Location:701276
    COG5290; IkappaB kinase complex, IKAP component [Transcription]
    pfam04762
    Location:1954
    IKI3; IKI3 family

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 106

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38 Primary Assembly

Genomic

  1. NC_000009.12 

    Range
    108867520..108934328
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_005252285.1XP_005252342.1  

    Related
    ENSP00000439367, ENST00000537196
    Conserved Domains (2) summary
    COG5290
    Location:21162
    COG5290; IkappaB kinase complex, IKAP component [Transcription]
    pfam04762
    Location:1840
    IKI3; IKI3 family

Alternate CHM1_1.1

Genomic

  1. NC_018920.2 

    Range
    111776416..111843122
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate HuRef

Genomic

  1. AC_000141.1 

    Range
    81229552..81296258
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)