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

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, Nov 2024]
Expression: Broad expression in CNS E18 (RPKM 13.8), CNS E11.5 (RPKM 13.3) and 25 other tissues See more
Orthologs: human all
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Genomic context

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_000070.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Loss of Elp1 disrupts trigeminal ganglion neurodevelopment in a model of familial dysautonomia.
Title: Loss of Elp1 disrupts trigeminal ganglion neurodevelopment in a model of familial dysautonomia.
Elp1 facilitates RAD51-mediated homologous recombination repair via translational regulation.
Title: Elp1 facilitates RAD51-mediated homologous recombination repair via translational regulation.
Bone biomechanical properties and tissue-scale bone quality in a genetic mouse model of familial dysautonomia.
Title: Bone biomechanical properties and tissue-scale bone quality in a genetic mouse model of familial dysautonomia.
Loss of Ikbkap/Elp1 in mouse oocytes causes spindle disorganization, developmental defects in preimplantation embryos and impaired female fertility.
Title: Loss of Ikbkap/Elp1 in mouse oocytes causes spindle disorganization, developmental defects in preimplantation embryos and impaired female fertility.
This splice-switching class of molecules is the first to specifically correct the ELP1 exon 20 splicing defect. Our data provide proof of principle of ExSpeU1s-adeno-associated virus particles as a novel therapeutic strategy for FD.
Title: Exon-specific U1 snRNAs improve ELP1 exon 20 definition and rescue ELP1 protein expression in a familial dysautonomia mouse model.
Although mitochondrial impairment was detected in all Ikbkap-deficient retinal neurons, retinal ganglion cells were the only cell type to degenerate; the survival of other retinal neurons was unaffected.
Title: Retina-specific loss of Ikbkap/Elp1 causes mitochondrial dysfunction that leads to selective retinal ganglion cell degeneration in a mouse model of familial dysautonomia.
data reveal an essential function for Ikbkap that extends beyond the peripheral nervous system to CNS development and function
Title: The familial dysautonomia disease gene IKBKAP is required in the developing and adult mouse central nervous system.
Results show that although Ikbkap is not required for normal development of retinal ganglion cells, its loss causes a slow, progressive retinal ganglion cells degeneration most severely in the temporal retina, which is later followed by indirect photoreceptor loss and complete retinal disorganization.
Title: Loss of Ikbkap Causes Slow, Progressive Retinal Degeneration in a Mouse Model of Familial Dysautonomia.
Our results show that tissue-specific expression of RBM24 can explain the neuron-specific aberrant splicing of IKBKAP exon 20 in familial dysautonomia, and that ectopic expression of RBM24 in neuronal tissue could be a novel therapeutic target of the disease.
Title: RBM24 promotes U1 snRNP recognition of the mutated 5' splice site in the IKBKAP gene of familial dysautonomia.
ELP1 has a neuron autonomous role in sympathetic and sensory target tissue innervation
Title: A neuron autonomous role for the familial dysautonomia gene ELP1 in sympathetic and sensory target tissue innervation.

Submit: New GeneRIF Correction See all GeneRIFs (18)

Variation

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Alleles

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

Gene trapped (1) 1 citation
Targeted (7) 1 citation

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

D4Mit288 (e-PCR), detects polymorphism
- UniSTS:130079

Ikbkap (e-PCR), detects polymorphism
- UniSTS:234032

C78473 (e-PCR)
- UniSTS:165327

NoName (e-PCR)
- UniSTS:225006

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

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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)

NM_026079.3 → NP_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:875 → 1101

TPR; Tetratricopeptide (TPR) repeat [General function prediction only]

COG5290
Location:71 → 1276

COG5290; IkappaB kinase complex, IKAP component [Transcription]

pfam04762
Location:1 → 955

IKI3; IKI3 family

sd00039
Location:112 → 147

7WD40; WD40 repeat [structural motif]