Elp6 elongator acetyltransferase complex subunit 6 [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Elp6provided by MGI
Official Full Name: elongator acetyltransferase complex subunit 6provided by MGI
Primary source: MGI:MGI:1919349
See related: Ensembl:ENSMUSG00000054836 AllianceGenome:MGI:1919349
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: Tmem103; 2610001P13Rik; 2610002I17Rik
Summary: Involved in positive regulation of cell migration. Acts upstream of or within several processes, including autophagosome maturation; gene expression; and homeostasis of number of retina cells. Predicted to be located in cytosol and nucleus. Predicted to be part of elongator holoenzyme complex. Orthologous to human ELP6 (elongator acetyltransferase complex subunit 6). [provided by Alliance of Genome Resources, Nov 2024]
Expression: Ubiquitous expression in CNS E11.5 (RPKM 9.9), CNS E14 (RPKM 8.7) and 28 other tissues See more
Orthologs: human all
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Genomic context

Location:: 9 F2; 9 59.91 cM

Exon count:: 8

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	9	NC_000075.7 (110133321..110151170)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	9	NC_000075.6 (110304398..110322102)

Chromosome 9 - NC_000075.7 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?

a single point mutation in the gene encoding Elongator complex subunit 6 causing Purkinje neuron degeneration and an ataxia-like phenotype in the mutant wobbly mouse, is reported.
Title: Elongator mutation in mice induces neurodegeneration and ataxia-like behavior.

Submit: New GeneRIF Correction

Variation

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Alleles

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

Chemically induced (ENU) (1)
Endonuclease-mediated (3)
Gene trapped (1)

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 molecular_function	ND No biological Data available more info

Process	Evidence Code	Pubs
acts_upstream_of_or_within apoptotic process	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within autophagosome maturation	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within autophagy	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within behavior	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within cellular response to stress	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within homeostasis of number of retina cells	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within inflammasome-mediated signaling pathway	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within locomotory behavior	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within motor behavior	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within neuromuscular process	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within neuromuscular process controlling balance	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within neuron apoptotic process	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within photoreceptor cell differentiation	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of cell migration	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within protein folding	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within response to unfolded protein	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within retina development in camera-type eye	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in tRNA wobble uridine modification	IEA Inferred from Electronic Annotation more info
acts_upstream_of_or_within translation	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within ubiquitin recycling	IMP Inferred from Mutant Phenotype more info	PubMed

Component	Evidence Code	Pubs
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
located_in nucleus	ISO Inferred from Sequence Orthology more info

General protein information

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Preferred Names: elongator complex protein 6

Names: UPF0405 protein C3orf75 homolog; elongator complex protein 6 homolog; transmembrane protein 103

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_001081381.1 → NP_001074850.1 elongator complex protein 6

See identical proteins and their annotated locations for NP_001074850.1

Status: VALIDATED

Source sequence(s)

AK075986, BE448281, BM943556, CJ073544

Consensus CDS

CCDS52937.1

UniProtKB/Swiss-Prot

Q8BK75, Q9D0M9

UniProtKB/TrEMBL

A0A0H2UH13

Related

ENSMUSP00000142823.2, ENSMUST00000199592.5

Conserved Domains (1) summary

pfam09807
Location:2 → 251

ELP6; Elongation complex protein 6

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

NC_000075.7 Reference GRCm39 C57BL/6J

Range

110133321..110151170

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_006512297.1 → XP_006512360.1 elongator complex protein 6 isoform X1

UniProtKB/TrEMBL

A0A0H2UH13

Conserved Domains (1) summary

pfam09807
Location:21 → 268

ELP6; Elongation complex protein 6