Ndufa5 NADH:ubiquinone oxidoreductase subunit A5 [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Ndufa5provided by MGI
Official Full Name: NADH:ubiquinone oxidoreductase subunit A5provided by MGI
Primary source: MGI:MGI:1915452
See related: Ensembl:ENSMUSG00000023089 AllianceGenome:MGI:1915452
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: CI-13kD-B; 2900002J19Rik
Summary: Acts upstream of or within respiratory electron transport chain. Located in mitochondrion. Part of respiratory chain complex I. Is expressed in several structures, including alimentary system; brown fat; liver; nervous system; and urinary system. Orthologous to human NDUFA5 (NADH:ubiquinone oxidoreductase subunit A5). [provided by Alliance of Genome Resources, Dec 2024]
Expression: Broad expression in heart adult (RPKM 29.1), cerebellum adult (RPKM 24.8) and 19 other tissues See more
Orthologs: human all
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Genomic context

Location:: 6 A3.1; 6 11.28 cM

Exon count:: 5

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	6	NC_000072.7 (24518661..24527689, complement)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	6	NC_000072.6 (24518662..24527690, complement)

Chromosome 6 - NC_000072.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

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?

Through bioinformatics prediction, we found miR-33a directly targeted on the 3'-UTR of NDUFA5. Dual-luciferase reporter analysis further confirmed the direct suppression of miR-33a on NDUFA5 expression
Title: Hepatocyte miR-33a mediates mitochondrial dysfunction and hepatosteatosis by suppressing NDUFA5.
At the age of 11 months, mice with a central nervous system knockout of Ndufa5 (Ndufa5 CNS-KO) showed lethargy and loss of motor skills. In these mice cortices, the levels of NDUFA5 protein were reduced to 25% of controls. Fully assembled complex I (CI) levels were also greatly reduced in cortex and CI activity in homogenates was reduced to 60% of controls.
Title: Partial complex I deficiency due to the CNS conditional ablation of Ndufa5 results in a mild chronic encephalopathy but no increase in oxidative damage.
The real-time RT-PCR analysis revealed that the expressions of the NDUFA5 mRNA, but not the ZNF9 mRNA level, were significantly up-regulated in all the tested cell lines derived from HPV-positive cervical cancer, HeLa, SW576, and CaSKi.
Title: Identification of NADH dehydrogenase 1 alpha subcomplex 5 capable to transform murine fibroblasts and overexpressed in human cervical carcinoma cell lines.

Submit: New GeneRIF Correction

Variation

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Alleles

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

Endonuclease-mediated (2)
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

Process	Evidence Code	Pubs
involved_in aerobic respiration	NAS Non-traceable Author Statement more info	PubMed
involved_in mitochondrial respiratory chain complex I assembly	ISO Inferred from Sequence Orthology more info
involved_in mitochondrial respiratory chain complex I assembly	ISS Inferred from Sequence or Structural Similarity more info
involved_in proton motive force-driven mitochondrial ATP synthesis	NAS Non-traceable Author Statement more info	PubMed
involved_in respiratory electron transport chain	IBA Inferred from Biological aspect of Ancestor more info
acts_upstream_of_or_within respiratory electron transport chain	IMP Inferred from Mutant Phenotype more info	PubMed

Component	Evidence Code	Pubs
is_active_in mitochondrial inner membrane	IDA Inferred from Direct Assay more info	PubMed
located_in mitochondrial inner membrane	ISO Inferred from Sequence Orthology more info
located_in mitochondrion	HDA more info	PubMed
part_of protein-containing complex	ISO Inferred from Sequence Orthology more info
part_of respiratory chain complex I	IBA Inferred from Biological aspect of Ancestor more info
part_of respiratory chain complex I	IDA Inferred from Direct Assay more info	PubMed
part_of respiratory chain complex I	IMP Inferred from Mutant Phenotype more info	PubMed
part_of respiratory chain complex I	ISO Inferred from Sequence Orthology more info
part_of respiratory chain complex I	ISS Inferred from Sequence or Structural Similarity more info

General protein information

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Preferred Names: NADH dehydrogenase [ubiquinone] 1 alpha subcomplex subunit 5

Names: NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 5; NADH-ubiquinone oxidoreductase 13 kDa-B subunit; complex I subunit B13; complex I-13kD-B

NP_001297997.1

EC 1.6.99.3

EC 7.1.1.2

NP_080890.1

EC 1.6.99.3

EC 7.1.1.2

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_001311068.2 → NP_001297997.1 NADH dehydrogenase [ubiquinone] 1 alpha subcomplex subunit 5 isoform 2

See identical proteins and their annotated locations for NP_001297997.1

Status: VALIDATED

Description

Transcript Variant: This variant (2) lacks an alternate in-frame exon in the coding region, compared to variant 1. It encodes isoform 2, which lacks an internal segment and is shorter, compared to isoform 1.

Source sequence(s)

AC153635, BY247454, BY253904, W66892

Consensus CDS

CCDS80494.1

UniProtKB/TrEMBL

D3YTQ8

Related

ENSMUSP00000112971.2, ENSMUST00000118558.5
NM_026614.3 → NP_080890.1 NADH dehydrogenase [ubiquinone] 1 alpha subcomplex subunit 5 isoform 1

See identical proteins and their annotated locations for NP_080890.1

Status: VALIDATED

Source sequence(s)

AK019301, BY253904, W66892

Consensus CDS

CCDS19942.1

UniProtKB/Swiss-Prot

Q9CPP6, Q9CY90, Q9D2P2, Q9D703, Q9D739

UniProtKB/TrEMBL

Q9CX78

Related

ENSMUSP00000023851.6, ENSMUST00000023851.9

Conserved Domains (1) summary

pfam04716
Location:13 → 78

ETC_C1_NDUFA5; ETC complex I subunit conserved region