Human
ELP1 - Elongator Acetyltransferase Complex Subunit 1
Alias:
FD
DYS
IKAP
IKI3
TOT1
IKBKAP
Basic Information
Sequence Homology
Disease & Mutation
Transcripts & Proteins
Gene Expression
Protein Interaction
Related Models
Drugs
References
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]
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Models
Reference
4
37
66608 bp
150.25
5061
3
7
20
ELP1 Genetics information (-)
GRCh38
Chr : -
Sequence Homology
Selected Gene:
Human:ELP1
Disease & Mutation
#
Disease
Anatomical Category
Score
Count
No data available
Transcripts & Proteins
Table View
Tile View
#
Transcript
Length(nt)
Exon Count
CDS(bp)
Protein
Length(aa)
No data available
* This data comes from NCBI.
Gene Expression
Tissue-specific RNA expression
Organ
Expression
Alphabetical
Cell-specific RNA expression
Organ
Expression
Alphabetical
Protein Interaction
Acting
Regulation
Detail
Mechanism
Target
Residues
Reference
Score
No data available
Related Models
Type
Name
MGI
Strain of Origin
Publications
No data available
Drugs
Name
CAS Number
Status
Phase
Link
No data available
References
Title
PMID
Journal
Year
IF
No Data Found!
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Variant
Sequence
Comparison
Al agent
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