Ndufaf6 NADH:ubiquinone oxidoreductase complex assembly factor 6 [Rattus norvegicus (Norway rat)] - Gene

Summary

Official Symbol: Ndufaf6provided by RGD
Official Full Name: NADH:ubiquinone oxidoreductase complex assembly factor 6provided by RGD
Primary source: RGD:1309085
See related: EnsemblRapid:ENSRNOG00000040040 AllianceGenome:RGD:1309085
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Rattus norvegicus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Rattus
Also known as: RGD1309085
Summary: Predicted to be involved in mitochondrial respiratory chain complex I assembly. Predicted to be located in mitochondrial inner membrane and nucleus. Predicted to be active in mitochondrion. Human ortholog(s) of this gene implicated in Fanconi renotubular syndrome 5 and nuclear type mitochondrial complex I deficiency 17. Orthologous to human NDUFAF6 (NADH:ubiquinone oxidoreductase complex assembly factor 6). [provided by Alliance of Genome Resources, Nov 2024]
Expression: Biased expression in Heart (RPKM 116.7), Muscle (RPKM 105.8) and 9 other tissues See more
Orthologs: human mouse all
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Genomic context

Location:: 5q13

Exon count:: 9

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCr8 (GCF_036323735.1)	5	NC_086023.1 (28945014..28969230, complement)
RS_2023_06	previous assembly	mRatBN7.2 (GCF_015227675.2)	5	NC_051340.1 (24147712..24171981, complement)
106	previous assembly	Rnor_6.0 (GCF_000001895.5)	5	NC_005104.4 (24297169..24320804, complement)

Chromosome 5 - NC_086023.1 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 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?

This review summarizes the current model of human complex I assembly and the roles played by different assembly factors at early, mid, and late assembly stages. For complex I assembly to proceed effectively in forming the holoenzyme, a group of proteins termed ""assembly factors"" are required. Defects in assembly factors which disrupt complex I assembly may contribute to human disease pathogenesis.
Title: Assembly factors of human mitochondrial complex I and their defects in disease.

Submit: New GeneRIF Correction

General gene information

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Gene Ontology Provided by RGD

Process	Evidence Code	Pubs
involved_in biosynthetic process	IEA Inferred from Electronic Annotation more info
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	IEA Inferred from Electronic Annotation more info
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

Component	Evidence Code	Pubs
located_in cytoplasm	ISO Inferred from Sequence Orthology more info
located_in mitochondrial inner membrane	IEA Inferred from Electronic Annotation more info
located_in mitochondrial inner membrane	ISO Inferred from Sequence Orthology more info
located_in mitochondrial inner membrane	ISS Inferred from Sequence or Structural Similarity more info
is_active_in mitochondrion	IBA Inferred from Biological aspect of Ancestor more info
located_in mitochondrion	ISO Inferred from Sequence Orthology more info	PubMed
located_in nucleus	ISO Inferred from Sequence Orthology more info

General protein information

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Preferred Names: NADH dehydrogenase (ubiquinone) complex I, assembly factor 6

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_001276441.1 → NP_001263370.1 NADH dehydrogenase (ubiquinone) complex I, assembly factor 6 precursor

See identical proteins and their annotated locations for NP_001263370.1

Status: VALIDATED

Source sequence(s)

JAXUCZ010000005

UniProtKB/Swiss-Prot

D3ZN43

UniProtKB/TrEMBL

A0A0H2UI06

Related

ENSRNOP00000058286.4, ENSRNOT00000061569.6

Conserved Domains (1) summary

pfam00494
Location:65 → 311

SQS_PSY; Squalene/phytoene synthase

RefSeqs of Annotated Genomes: GCF_036323735.1-RS_2024_02

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCr8

Genomic

NC_086023.1 Reference GRCr8

Range

28945014..28969230 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_039109408.2 → XP_038965336.1 NADH dehydrogenase (ubiquinone) complex I, assembly factor 6 isoform X3

UniProtKB/TrEMBL

A6JFS4

Conserved Domains (1) summary

pfam00494
Location:1 → 200

SQS_PSY; Squalene/phytoene synthase
XM_039109409.2 → XP_038965337.1 NADH dehydrogenase (ubiquinone) complex I, assembly factor 6 isoform X3

UniProtKB/TrEMBL

A6JFS4

Conserved Domains (1) summary

pfam00494
Location:1 → 200

SQS_PSY; Squalene/phytoene synthase
XM_063287279.1 → XP_063143349.1 NADH dehydrogenase (ubiquinone) complex I, assembly factor 6 isoform X1
XM_063287280.1 → XP_063143350.1 NADH dehydrogenase (ubiquinone) complex I, assembly factor 6 isoform X2