Sdhaf4 succinate dehydrogenase complex assembly factor 4 [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Sdhaf4provided by MGI
Official Full Name: succinate dehydrogenase complex assembly factor 4provided by MGI
Primary source: MGI:MGI:1915252
See related: Ensembl:ENSMUSG00000026154 AllianceGenome:MGI:1915252
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: C6orf57; 1110058L19Rik; 1700001E18Rik
Summary: Enables enzyme activator activity. Involved in cellular respiration; mitochondrial respiratory chain complex II assembly; and positive regulation of succinate dehydrogenase activity. Acts upstream of or within innate immune response. Located in mitochondrion. Used to study dilated cardiomyopathy. Orthologous to human SDHAF4 (succinate dehydrogenase complex assembly factor 4). [provided by Alliance of Genome Resources, Nov 2024]
Expression: Ubiquitous expression in CNS E14 (RPKM 16.2), bladder adult (RPKM 13.6) and 23 other tissues See more
Orthologs: human all
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Genomic context

Location:: 1 A5; 1 9.86 cM

Exon count:: 3

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	1	NC_000067.7 (24035020..24044721, complement)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	1	NC_000067.6 (23995939..24005640, complement)

Chromosome 1 - NC_000067.7 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?

Cardiac disruption of SDHAF4-mediated mitochondrial complex II assembly promotes dilated cardiomyopathy.
Title: Cardiac disruption of SDHAF4-mediated mitochondrial complex II assembly promotes dilated cardiomyopathy.

Submit: New GeneRIF Correction

Variation

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Alleles

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

Endonuclease-mediated (1) 1 citation

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 enzyme activator activity	IMP Inferred from Mutant Phenotype more info	PubMed

Process	Evidence Code	Pubs
involved_in cellular respiration	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in cellular respiration	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within innate immune response	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in mitochondrial respiratory chain complex II assembly	IBA Inferred from Biological aspect of Ancestor more info
involved_in mitochondrial respiratory chain complex II assembly	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in mitochondrial respiratory chain complex II assembly	ISO Inferred from Sequence Orthology more info
involved_in positive regulation of succinate dehydrogenase activity	IMP Inferred from Mutant Phenotype more info	PubMed

Component	Evidence Code	Pubs
located_in mitochondrial matrix	IEA Inferred from Electronic Annotation more info
located_in mitochondrion	HDA more info	PubMed
is_active_in mitochondrion	IBA Inferred from Biological aspect of Ancestor more info

General protein information

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Preferred Names: succinate dehydrogenase assembly factor 4, mitochondrial

Names: SDH assembly factor 4; UPF0369 protein C6orf57 homolog

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.