InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: IKBKAP

Summary

InnateDB Protein

IDBP-79891.6

Last Modified

2014-10-13 [Report errors or provide feedback]

Gene Symbol

IKBKAP

Protein Name

inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase complex-associated protein

Synonyms

DYS; ELP1; FD; IKAP; IKI3; TOT1;

Species

Homo sapiens

Ensembl Protein

ENSP00000363779

InnateDB Gene

IDBG-79889 (IKBKAP)

Protein Structure

UniProt Annotation

Function

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.

Subcellular Localization

Cytoplasm. Nucleus.

Disease Associations

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:0000269PubMed:11179008, ECO:0000269PubMed:11179021}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Tissue Specificity

Comments

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 95 experimentally validated interaction(s) in this database.

Experimentally validated
Total	95 [view]
Protein-Protein	94 [view]
Protein-DNA	1 [view]
Protein-RNA	0
DNA-DNA	0
RNA-RNA	0
DNA-RNA	0

Gene Ontology

Molecular Function

Accession	GO Term
GO:0003677	DNA binding
GO:0004871	signal transducer activity
GO:0005488	binding
GO:0005515	protein binding
GO:0008607	phosphorylase kinase regulator activity

Biological Process

GO:0006325	chromatin organization
GO:0006357	regulation of transcription from RNA polymerase II promoter
GO:0006368	transcription elongation from RNA polymerase II promoter
GO:0006461	protein complex assembly
GO:0006468	protein phosphorylation
GO:0006955	immune response
GO:0007165	signal transduction
GO:0030335	positive regulation of cell migration
GO:0045859	regulation of protein kinase activity

Cellular Component

GO:0005730	nucleolus
GO:0005737	cytoplasm
GO:0008023	transcription elongation factor complex
GO:0016591	DNA-directed RNA polymerase II, holoenzyme
GO:0033588	Elongator holoenzyme complex