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    ELP1 elongator acetyltransferase complex subunit 1 [ Homo sapiens (human) ]

    Gene ID: 8518, updated on 11-Apr-2024

    Summary

    Official Symbol
    ELP1provided by HGNC
    Official Full Name
    elongator acetyltransferase complex subunit 1provided by HGNC
    Primary source
    HGNC:HGNC:5959
    See related
    Ensembl:ENSG00000070061 MIM:603722; AllianceGenome:HGNC:5959
    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
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See ELP1 in Genome Data Viewer
    Location:
    9q31.3
    Exon count:
    37
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 9 NC_000009.12 (108867517..108934124, complement)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 9 NC_060933.1 (121036644..121103197, complement)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 9 NC_000009.11 (111629797..111696404, complement)

    Chromosome 9 - NC_000009.12Genomic Context describing neighboring genes Neighboring gene actin like 7B Neighboring gene actin like 7A Neighboring gene ATAC-STARR-seq lymphoblastoid active region 28757 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 20160 Neighboring gene actin binding transcription modulator Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr9:111713956-111715155 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 Apr 4 07:08:55 2018

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Clone Names

    • FLJ12497, DKFZp781H1425

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables tRNA binding IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    Process Evidence Code Pubs
    involved_in regulation of translation NAS
    Non-traceable Author Statement
    more info
    PubMed 
    involved_in tRNA wobble base 5-methoxycarbonylmethyl-2-thiouridinylation IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in tRNA wobble uridine modification NAS
    Non-traceable Author Statement
    more info
    PubMed 
    Component Evidence Code Pubs
    located_in cytoplasm IDA
    Inferred from Direct Assay
    more info
    PubMed 
    is_active_in cytosol IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in cytosol IDA
    Inferred from Direct Assay
    more info
     
    part_of elongator holoenzyme complex IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    part_of elongator holoenzyme complex IDA
    Inferred from Direct Assay
    more info
    PubMed 
    part_of elongator holoenzyme complex IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    located_in nucleus IEA
    Inferred from Electronic Annotation
    more info
     

    General protein information

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

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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_001318360.2NP_001305289.1  elongator complex protein 1 isoform 2

      Status: REVIEWED

      Source sequence(s)
      AF153419, AK304742, AL354797, AL359692, BP201910
      Consensus CDS
      CCDS94451.1
      UniProtKB/TrEMBL
      A0A6Q8PGW3, B4E3I9
      Related
      ENSP00000501602.1, ENST00000674948.1
      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_001330749.2NP_001317678.1  elongator complex protein 1 isoform 3

      Status: REVIEWED

      Source sequence(s)
      AI219443, AK024223, AL354797, BF968300, CX760218, DA504555, DA737592, DR157355
      Consensus CDS
      CCDS83394.1
      UniProtKB/TrEMBL
      B3KXE7, F5H2T0, Q68DI5
      Related
      ENSP00000439367.1, ENST00000537196.1
    3. NM_003640.5NP_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, AL359692, BC033094, BF968300
      Consensus CDS
      CCDS6773.1
      UniProtKB/Swiss-Prot
      O95163, Q5JSV2, Q9H327, Q9UG87
      UniProtKB/TrEMBL
      Q8N516
      Related
      ENSP00000363779.5, ENST00000374647.10
      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: GCF_000001405.40-RS_2023_10

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000009.12 Reference GRCh38.p14 Primary Assembly

      Range
      108867517..108934124 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047423991.1XP_047279947.1  elongator complex protein 1 isoform X1

      UniProtKB/TrEMBL
      A0A6Q8PHA0
      Related
      ENSP00000502640.1, ENST00000675765.1

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060933.1 Alternate T2T-CHM13v2.0

      Range
      121036644..121103197 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054364054.1XP_054220029.1  elongator complex protein 1 isoform X1