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Elp1 elongator complex protein 1 [ Mus musculus (house mouse) ]

Gene ID: 230233, updated on 9-Dec-2024

Summary

Official Symbol
Elp1provided by MGI
Official Full Name
elongator complex protein 1provided by MGI
Primary source
MGI:MGI:1914544
See related
Ensembl:ENSMUSG00000028431 AllianceGenome:MGI:1914544
Gene type
protein coding
RefSeq status
VALIDATED
Organism
Mus musculus
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as
IKAP; Ikbkap; 6030413P05; 3110040G09Rik
Summary
Predicted to enable ATP binding activity; protein kinase activity; and tRNA binding activity. Involved in tRNA wobble uridine modification. Located in cytoplasm. Is expressed in several structures, including genitourinary system; liver; lung; spleen; and telencephalon. Used to study Riley-Day syndrome and hemophagocytic lymphohistiocytosis. Human ortholog(s) of this gene implicated in Riley-Day syndrome; asthma; kyphosis; medulloblastoma; and scoliosis. Orthologous to human ELP1 (elongator acetyltransferase complex subunit 1). [provided by Alliance of Genome Resources, Dec 2024]
Expression
Broad expression in CNS E18 (RPKM 13.8), CNS E11.5 (RPKM 13.3) and 25 other tissues See more
Orthologs
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Genomic context

See Elp1 in Genome Data Viewer
Location:
4 B3; 4 31.66 cM
Exon count:
37
Annotation release Status Assembly Chr Location
RS_2024_02 current GRCm39 (GCF_000001635.27) 4 NC_000070.7 (56746547..56802565, complement)
108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 4 NC_000070.6 (56746547..56802569, complement)

Chromosome 4 - NC_000070.7Genomic Context describing neighboring genes Neighboring gene actin-like 7b Neighboring gene actin-like 7a Neighboring gene actin binding transcription modulator Neighboring gene catenin alpha like 1 Neighboring gene STARR-seq mESC enhancer starr_10312 Neighboring gene STARR-positive B cell enhancer ABC_E9083 Neighboring gene transmembrane protein 245 Neighboring gene microRNA 32

Genomic regions, transcripts, and products

Expression

  • Project title: Mouse ENCODE transcriptome data
  • Description: RNA profiling data sets generated by the Mouse ENCODE project.
  • BioProject: PRJNA66167
  • Publication: PMID 25409824
  • Analysis date: n/a

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Variation

Alleles

Alleles of this type are documented at Mouse Genome Informatics  (MGI)

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Gene Ontology Provided by MGI

Function Evidence Code Pubs
enables ATP binding ISO
Inferred from Sequence Orthology
more info
 
enables protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
enables protein kinase activity ISO
Inferred from Sequence Orthology
more info
 
enables tRNA binding IBA
Inferred from Biological aspect of Ancestor
more info
 
Process Evidence Code Pubs
involved_in tRNA wobble base 5-methoxycarbonylmethyl-2-thiouridinylation IBA
Inferred from Biological aspect of Ancestor
more info
 
involved_in tRNA wobble uridine modification IMP
Inferred from Mutant Phenotype
more info
PubMed 
Component Evidence Code Pubs
located_in cytoplasm IDA
Inferred from Direct Assay
more info
PubMed 
located_in cytoplasm ISO
Inferred from Sequence Orthology
more info
 
located_in cytoplasm ISS
Inferred from Sequence or Structural Similarity
more info
 
is_active_in cytosol IBA
Inferred from Biological aspect of Ancestor
more info
 
located_in cytosol IEA
Inferred from Electronic Annotation
more info
 
located_in cytosol ISO
Inferred from Sequence Orthology
more info
 
part_of elongator holoenzyme complex IBA
Inferred from Biological aspect of Ancestor
more info
 
part_of elongator holoenzyme complex ISO
Inferred from Sequence Orthology
more info
 
part_of elongator holoenzyme complex ISS
Inferred from Sequence or Structural Similarity
more info
 
located_in nucleus IEA
Inferred from Electronic Annotation
more info
 

General protein information

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

NCBI Reference Sequences (RefSeq)

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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.

mRNA and Protein(s)

  1. NM_026079.3NP_080355.2  elongator complex protein 1

    See identical proteins and their annotated locations for NP_080355.2

    Status: VALIDATED

    Source sequence(s)
    AK032563, AK035944, AK076152, AK147153, AK165168
    Consensus CDS
    CCDS38765.1
    UniProtKB/Swiss-Prot
    Q3UHY6, Q7TQH1, Q7TT37, Q8C6B3, Q8CBI3, Q8CH82, Q8VHU5, Q8VHV9, Q9CT81
    Related
    ENSMUSP00000030140.3, ENSMUST00000030140.3
    Conserved Domains (4) summary
    COG0457
    Location:8751101
    TPR; Tetratricopeptide (TPR) repeat [General function prediction only]
    COG5290
    Location:711276
    COG5290; IkappaB kinase complex, IKAP component [Transcription]
    pfam04762
    Location:1955
    IKI3; IKI3 family
    sd00039
    Location:112147
    7WD40; WD40 repeat [structural motif]

RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

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

Reference GRCm39 C57BL/6J

Genomic

  1. NC_000070.7 Reference GRCm39 C57BL/6J

    Range
    56746547..56802565 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_030253419.1XP_030109279.1  elongator complex protein 1 isoform X1

    Conserved Domains (1) summary
    cl27115
    Location:1244
    IKI3; IKI3 family

RNA

  1. XR_390319.3 RNA Sequence