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ELP1 elongator complex protein 1 [ Homo sapiens (human) ]

Gene ID: 8518, updated on 12-Aug-2018

Summary

Official Symbol
ELP1provided by HGNC
Official Full Name
elongator complex protein 1provided by HGNC
Primary source
HGNC:HGNC:5959
See related
Ensembl:ENSG00000070061 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; IKAP; IKI3; TOT1; IKBKAP
Summary
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]
Expression
Ubiquitous expression in adrenal (RPKM 22.4), ovary (RPKM 14.7) and 25 other tissues See more
Orthologs

Genomic context

See ELP1 in Genome Data Viewer
Location:
9q31.3
Exon count:
37
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 9 NC_000009.12 (108867517..108934332, 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 alpha like 1 Neighboring gene uncharacterized LOC105376216 Neighboring gene RNA, 5.8S ribosomal pseudogene 3

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Jun 15 11:32:44 2016

Bibliography

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Pathways from BioSystems

  • 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...

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • FLJ12497, DKFZp781H1425

Gene Ontology Provided by GOA

Function Evidence Code Pubs
contributes_to RNA polymerase II complex 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 
Process Evidence Code Pubs
immune response TAS
Traceable Author Statement
more info
PubMed 
positive regulation of cell migration ISS
Inferred from Sequence or Structural Similarity
more info
 
protein phosphorylation TAS
Traceable Author Statement
more info
PubMed 
protein-containing complex assembly TAS
Traceable Author Statement
more info
PubMed 
regulation of protein kinase activity IEA
Inferred from Electronic Annotation
more info
 
regulation of transcription by RNA polymerase II IDA
Inferred from Direct Assay
more info
PubMed 
regulation of transcription by RNA polymerase II TAS
Traceable Author Statement
more info
PubMed 
tRNA wobble uridine modification IEA
Inferred from Electronic Annotation
more info
 
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
PubMed 
cytosol IDA
Inferred from Direct Assay
more info
 
nucleolus IDA
Inferred from Direct Assay
more info
PubMed 
transcription elongation factor complex IDA
Inferred from Direct Assay
more info
PubMed 

General protein information

Preferred Names
elongator complex protein 1
Names
IKK complex-associated protein
elongator acetyltransferase complex subunit 1
ikappaB kinase complex-associated protein
inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase complex-associated protein

NCBI Reference Sequences (RefSeq)

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 RefSeqGene

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

mRNA and Protein(s)

  1. NM_001318360.1NP_001305289.1  elongator complex protein 1 isoform 2

    Status: REVIEWED

    Source sequence(s)
    AF153419, AK304742, AL354797, AL359692, BP201910
    UniProtKB/Swiss-Prot
    O95163
    UniProtKB/TrEMBL
    B4E3I9
    Conserved Domains (3) summary
    COG5290
    Location:21162
    COG5290; IkappaB kinase complex, IKAP component [Transcription]
    pfam04762
    Location:1840
    IKI3; IKI3 family
    sd00039
    Location:129170
    7WD40; WD40 repeat [structural motif]
  2. NM_001330749.1NP_001317678.1  elongator complex protein 1 isoform 3

    Status: REVIEWED

    Source sequence(s)
    AI219443, AK024223, AL354797, BF968300, BP201910, CX760218, DA504555, DA737592, DR157355
    Consensus CDS
    CCDS83394.1
    UniProtKB/TrEMBL
    B3KNB2, F5H2T0
    Related
    ENSP00000439367.1, ENST00000537196.1
  3. NM_003640.4NP_003631.2  elongator complex protein 1 isoform 1

    See identical proteins and their annotated locations for NP_003631.2

    Status: REVIEWED

    Source sequence(s)
    AF153419, AK289962, BC033094, BF968300, BP201910, DA400136
    Consensus CDS
    CCDS6773.1
    UniProtKB/Swiss-Prot
    O95163
    UniProtKB/TrEMBL
    Q4LE38, Q8N516
    Related
    ENSP00000363779.5, OTTHUMP00000021869, ENST00000374647.9, OTTHUMT00000053574
    Conserved Domains (3) summary
    COG5290
    Location:701276
    COG5290; IkappaB kinase complex, IKAP component [Transcription]
    pfam04762
    Location:1954
    IKI3; IKI3 family
    sd00039
    Location:243284
    7WD40; WD40 repeat [structural motif]

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109 details...Open this link in a new tab

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

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000009.12 Reference GRCh38.p12 Primary Assembly

    Range
    108867517..108934332 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011519136.2XP_011517438.1  elongator complex protein 1 isoform X1

    Conserved Domains (3) summary
    COG5290
    Location:701290
    COG5290; IkappaB kinase complex, IKAP component [Transcription]
    pfam04762
    Location:1954
    IKI3; IKI3 family
    sd00039
    Location:243284
    7WD40; WD40 repeat [structural motif]
  2. XM_011519137.1XP_011517439.1  elongator complex protein 1 isoform X2

    Conserved Domains (3) summary
    COG5290
    Location:21176
    COG5290; IkappaB kinase complex, IKAP component [Transcription]
    pfam04762
    Location:1840
    IKI3; IKI3 family
    sd00039
    Location:129170
    7WD40; WD40 repeat [structural motif]

RNA

  1. XR_929859.3 RNA Sequence

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