Ndufaf3 NADH:ubiquinone oxidoreductase complex assembly factor 3 [Rattus norvegicus (Norway rat)] - Gene

Summary

Official Symbol: Ndufaf3provided by RGD
Official Full Name: NADH:ubiquinone oxidoreductase complex assembly factor 3provided by RGD
Primary source: RGD:708545
See related: EnsemblRapid:ENSRNOG00000020068 AllianceGenome:RGD:708545
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Rattus norvegicus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Rattus
Also known as: RGD708545
Summary: This gene encodes a protein that is required for assembly of mitochondrial NADH: ubiquinone oxidoreductase complex I, a multiprotein enzyme complex that is part of the oxidative phosphorylation pathway. In humans, mutations in this gene are associated with fatal neonatal mitochondrial disease and lactic acidosis. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2015]
Expression: Biased expression in Testes (RPKM 257.0), Heart (RPKM 106.0) and 9 other tissues See more
Orthologs: human mouse all
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Genomic context

Location:: 8q32

Exon count:: 5

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCr8 (GCF_036323735.1)	8	NC_086026.1 (118139891..118141723, complement)
RS_2023_06	previous assembly	mRatBN7.2 (GCF_015227675.2)	8	NC_051343.1 (109261362..109263194, complement)
106	previous assembly	Rnor_6.0 (GCF_000001895.5)	8	NC_005107.4 (117351628..117353460, complement)

Chromosome 8 - NC_086026.1 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: A rat RNA-Seq transcriptomic BodyMap across 11 organs and 4 developmental stages
Description: 320 RNA samples isolated from 11 organs (adrenal gland, brain, heart, kidney, liver, lung, muscle, spleen, thymus, and testes or uterus) from both sexes of Fischer 344 rats across four developmental stages (2-, 6-, 21-, and 104-weeks-old)
BioProject: PRJNA238328
Publication: PMID 24510058
Analysis date: Mon Jun 6 17:44:12 2016

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

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General gene information

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Markers

AI171562 (e-PCR)
- UniSTS:261638

RH141083 (e-PCR)
- UniSTS:223081

Gene Ontology Provided by RGD

Process	Evidence Code	Pubs
involved_in mitochondrial respiratory chain complex I assembly	IBA Inferred from Biological aspect of Ancestor more info
involved_in mitochondrial respiratory chain complex I assembly	ISO Inferred from Sequence Orthology more info

Component	Evidence Code	Pubs
is_active_in mitochondrial inner membrane	IBA Inferred from Biological aspect of Ancestor more info
located_in mitochondrial inner membrane	ISO Inferred from Sequence Orthology more info
located_in mitochondrion	ISO Inferred from Sequence Orthology more info	PubMed
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: NADH dehydrogenase [ubiquinone] 1 alpha subcomplex assembly factor 3

Names: NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, assembly factor 3; NADH dehydrogenase (ubiquinone) complex I, assembly factor 3; nuclear protein E3-3

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_001033971.2 → NP_001029143.1 NADH dehydrogenase [ubiquinone] 1 alpha subcomplex assembly factor 3 isoform b

See identical proteins and their annotated locations for NP_001029143.1

Status: REVIEWED

Description

Transcript Variant: This variant (2) uses an alternate in-frame splice site in the 5' coding region compared to variant 1. It encodes isoform b, which is shorter than isoform a.

Source sequence(s)

BC079306, JAXUCZ010000008

UniProtKB/TrEMBL

A6I368

Conserved Domains (1) summary

cd05125
Location:53 → 166

Mth938_2P1-like; Mth938_2P1-like domain. This model contains sequences that are similar to 2P1, a partially characterized nuclear protein, which is homologous to E3-3 from rat and known to be alternatively spliced. Its function is unknown. This family is part of the ...
NM_020080.3 → NP_064465.1 NADH dehydrogenase [ubiquinone] 1 alpha subcomplex assembly factor 3 isoform a

See identical proteins and their annotated locations for NP_064465.1

Status: REVIEWED

Description

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

Source sequence(s)

BC079306, CB609164, JAXUCZ010000008

UniProtKB/Swiss-Prot

O08776, O08777, Q6AXV1, Q78E24

UniProtKB/TrEMBL

A6I367, A6I368

Related

ENSRNOP00000027262.6, ENSRNOT00000027262.7

Conserved Domains (1) summary

cd05125
Location:59 → 172

Mth938_2P1-like; Mth938_2P1-like domain. This model contains sequences that are similar to 2P1, a partially characterized nuclear protein, which is homologous to E3-3 from rat and known to be alternatively spliced. Its function is unknown. This family is part of the ...