Elp3 elongator acetyltransferase complex subunit 3 [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Elp3provided by MGI
Official Full Name: elongator acetyltransferase complex subunit 3provided by MGI
Primary source: MGI:MGI:1921445
See related: Ensembl:ENSMUSG00000022031 AllianceGenome:MGI:1921445
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: KAT9; 2610507P14Rik
Summary: Predicted to enable acetyltransferase activity and phosphorylase kinase regulator activity. Involved in central nervous system development; neuron migration; and positive regulation of cell migration. Predicted to be located in cytosol and nucleolus. Predicted to be part of elongator holoenzyme complex. Predicted to be active in cytoplasm and nucleus. Is expressed in cerebral cortex and ganglionic eminence. Orthologous to human ELP3 (elongator acetyltransferase complex subunit 3). [provided by Alliance of Genome Resources, Apr 2022]
Expression: Ubiquitous expression in CNS E18 (RPKM 31.8), CNS E14 (RPKM 30.9) and 28 other tissues See more
Orthologs: human all
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Genomic context

Location:: 14 D1; 14 34.33 cM

Exon count:: 15

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	14	NC_000080.7 (65767895..65830561, complement)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	14	NC_000080.6 (65530446..65593112, complement)

Chromosome 14 - NC_000080.7 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?

Amyloid pathology reduces ELP3 expression and tRNA modifications leading to impaired proteostasis.
Title: Amyloid pathology reduces ELP3 expression and tRNA modifications leading to impaired proteostasis.
Elp3-mediated codon-dependent translation promotes mTORC2 activation and regulates macrophage polarization.
Title: Elp3-mediated codon-dependent translation promotes mTORC2 activation and regulates macrophage polarization.
Loss of tRNA-modifying enzyme Elp3 activates a p53-dependent antitumor checkpoint in hematopoiesis.
Title: Loss of tRNA-modifying enzyme Elp3 activates a p53-dependent antitumor checkpoint in hematopoiesis.
Loss of the Transfer RNA Wobble Uridine-Modifying Enzyme Elp3 Delays T Cell Cycle Entry and Impairs T Follicular Helper Cell Responses through Deregulation of Atf4.
Title: Loss of the Transfer RNA Wobble Uridine-Modifying Enzyme Elp3 Delays T Cell Cycle Entry and Impairs T Follicular Helper Cell Responses through Deregulation of Atf4.
Mouse ELP3 expression was examined during ESC differentiation and development. ELP3 depletion caused catastrophic cell cycle progression due to an aberrant translation. Elp3 knockout animals exhibited embryonic lethality with severe growth retardation.
Title: Indispensable role for mouse ELP3 in embryonic stem cell maintenance and early development.
Data show that elongator protein 3 (Elp3) trigger Wnt-driven tumor initiation in the intestine, and Elp3 deficiency strongly impaired radiation-induced intestinal regeneration.
Title: Elp3 drives Wnt-dependent tumor initiation and regeneration in the intestine.
Silencing of histone acetyltransferase Elongator complex scaffold (Elp1) or catalytic subunit (Elp3) cell-autonomously delays the migration and impairs the branching of projection neurons.
Title: Elongator controls the migration and differentiation of cortical neurons through acetylation of alpha-tubulin.

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Variation

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Alleles

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

Gene trapped (2)
Targeted (1) 1 citation
Endonuclease-mediated (2)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables 4 iron, 4 sulfur cluster binding	IEA Inferred from Electronic Annotation more info
enables RNA binding	IEA Inferred from Electronic Annotation more info
enables acetyltransferase activity	ISO Inferred from Sequence Orthology more info
enables acyltransferase activity	IEA Inferred from Electronic Annotation more info
enables acyltransferase activity, transferring groups other than amino-acyl groups	IEA Inferred from Electronic Annotation more info
enables catalytic activity	IEA Inferred from Electronic Annotation more info
enables iron-sulfur cluster binding	IEA Inferred from Electronic Annotation more info
enables metal ion binding	IEA Inferred from Electronic Annotation more info
enables phosphorylase kinase regulator activity	ISO Inferred from Sequence Orthology more info
enables tRNA binding	IEA Inferred from Electronic Annotation more info
enables transferase activity	IEA Inferred from Electronic Annotation more info

Process	Evidence Code	Pubs
involved_in central nervous system development	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within nervous system development	IEA Inferred from Electronic Annotation more info
involved_in neuron migration	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of cell migration	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in regulation of transcription by RNA polymerase II	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within tRNA processing	IEA Inferred from Electronic Annotation more info
involved_in tRNA wobble base 5-methoxycarbonylmethyl-2-thiouridinylation	IBA Inferred from Biological aspect of Ancestor more info
involved_in tRNA wobble uridine modification	ISO Inferred from Sequence Orthology more info

Component	Evidence Code	Pubs
is_active_in cytoplasm	IBA Inferred from Biological aspect of Ancestor more info
located_in cytoplasm	ISO Inferred from Sequence Orthology 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
located_in nucleolus	ISO Inferred from Sequence Orthology more info
is_active_in nucleus	IBA Inferred from Biological aspect of Ancestor more info

General protein information

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Preferred Names: elongator complex protein 3

Names: elongation protein 3 homolog; protein lysine acetyltransferase ELP3; tRNA uridine(34) acetyltransferase

NP_001240741.1

EC 2.3.1.48

NP_083087.1

EC 2.3.1.48

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_001253812.1 → NP_001240741.1 elongator complex protein 3 isoform 1

See identical proteins and their annotated locations for NP_001240741.1

Status: VALIDATED

Description

Transcript Variant: This variant (1) represents the longest transcript and encodes the longer isoform (1).

Source sequence(s)

AC122274, AC158983

Consensus CDS

CCDS56965.1

UniProtKB/TrEMBL

A0A286YDB8

Related

ENSMUSP00000022609.6, ENSMUST00000022609.7

Conserved Domains (3) summary

cd01335
Location:115 → 359

Radical_SAM; Radical SAM superfamily. Enzymes of this family generate radicals by combining a 4Fe-4S cluster and S-adenosylmethionine (SAM) in close proximity. They are characterized by a conserved CxxxCxxC motif, which coordinates the conserved iron-sulfur cluster. ...

TIGR01211
Location:56 → 565

ELP3; radical SAM enzyme/protein acetyltransferase, ELP3 family

pfam16199
Location:333 → 411

Radical_SAM_C; Radical_SAM C-terminal domain
NM_028811.3 → NP_083087.1 elongator complex protein 3 isoform 2

See identical proteins and their annotated locations for NP_083087.1

Status: VALIDATED

Description

Transcript Variant: This variant (2) uses an alternate in-frame splice site in the 5' coding region, compared to variant 1. This results in a shorter protein (isoform 2), compared to isoform 1.

Source sequence(s)

AC122274, AC158983, AK012072

Consensus CDS

CCDS88691.1

UniProtKB/Swiss-Prot

Q8C2K2, Q8R369, Q9CZX0

UniProtKB/TrEMBL

A0A286YDB8

Related

ENSMUSP00000153462.2, ENSMUST00000225355.2

Conserved Domains (1) summary

TIGR01211
Location:37 → 546

ELP3; radical SAM enzyme/protein acetyltransferase, ELP3 family

RNA

NR_045599.1 RNA Sequence

Status: VALIDATED

Description

Transcript Variant: This variant (3) uses an alternate splice site in the 3' coding region, compared to variant 1. This variant is represented as non-coding because the use of the 5'-most supported translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).

Source sequence(s)

AC122274, AC158983, AK150058

Related

ENSMUST00000224743.2