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; cranium; liver; nervous system; and urinary system. Orthologous to human NDUFA5 (NADH:ubiquinone oxidoreductase subunit A5). [provided by Alliance of Genome Resources, Apr 2022]
Expression: Broad expression in heart adult (RPKM 29.1), cerebellum adult (RPKM 24.8) and 19 other tissues See more
Orthologs: human all
NEW: Try the new Gene table
Try the new Transcript table

Genomic context

Location:: 6; 6 A3.1

Exon count:: 5

Annotation release	Status	Assembly	Chr	Location
109	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

Go to the top of the page Help

Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

Go to the top of the page Help

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

Go to the top of the page Help

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

Go to the top of the page Help

Alleles

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

Gene trapped (1)
Endonuclease-mediated (2)

Interactions

Go to the top of the page Help

Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

Go to the top of the page Help

Homology

Homologs of the Ndufa5 gene: The Ndufa5 gene is conserved in human, chimpanzee, Rhesus monkey, dog, cow, rat, chicken, zebrafish, fruit fly, mosquito, C.elegans, and frog.
Orthologs from Annotation Pipeline: 482 organisms have orthologs with human gene Ndufa5
Orthologs

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 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	PubMed
acts_upstream_of_or_within respiratory electron transport chain	IMP Inferred from Mutant Phenotype more info	PubMed

Component	Evidence Code	Pubs
located_in membrane	IEA Inferred from Electronic Annotation more info
located_in mitochondrial inner membrane	IEA Inferred from Electronic Annotation more info
part_of mitochondrial respiratory chain complex I	IBA Inferred from Biological aspect of Ancestor more info	PubMed
part_of mitochondrial respiratory chain complex I	ISO Inferred from Sequence Orthology more info
located_in mitochondrion	HDA more info	PubMed
located_in mitochondrion	ISO Inferred from Sequence Orthology more info
part_of protein-containing complex	ISO Inferred from Sequence Orthology more info
located_in respirasome	IEA Inferred from Electronic Annotation more info
part_of respiratory chain complex I	IMP Inferred from Mutant Phenotype more info	PubMed

General protein information

Go to the top of the page Help

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)

Go to the top of the page Help

NEW Try the new Transcript table

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

A0A8C6HBV7, 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, Q9D739

UniProtKB/TrEMBL

A0A8C6H8B8

Related

ENSMUSP00000023851.6, ENSMUST00000023851.9

Conserved Domains (1) summary

pfam04716
Location:13 → 78

ETC_C1_NDUFA5; ETC complex I subunit conserved region