NDUFAF1 NADH dehydrogenase (ubiquinone) complex I, assembly factor 1 [Homo sapiens] - Gene

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Summary

Official Symbol: NDUFAF1provided by HGNC
Official Full Name: NADH dehydrogenase (ubiquinone) complex I, assembly factor 1provided by HGNC
Primary source: HGNC:18828
Locus tag: CGI-65
See related: Ensembl:ENSG00000137806; HPRD:09500; MIM:606934; Vega:OTTHUMG00000130340
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: CGI65; CIA30; CGI-65
Summary: This gene encodes a complex I assembly factor protein. Complex I (NADH-ubiquinone oxidoreductase) catalyzes the transfer of electrons from NADH to ubiquinone (coenzyme Q) in the first step of the mitochondrial respiratory chain, resulting in the translocation of protons across the inner mitochondrial membrane. The encoded protein is required for assembly of complex I, and mutations in this gene are a cause of mitochondrial complex I deficiency. Alternatively spliced transcript variants have been observed for this gene, and a pseudogene of this gene is located on the long arm of chromosome 19. [provided by RefSeq, Dec 2011]

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Genomic context

Location :: 15q11.2-q21.3

Sequence :: Chromosome: 15; NC_000015.9 (41679551..41694642, complement)

See NDUFAF1 in Epigenomics, MapViewer

Chromosome 15 - NC_000015.9 Genomic Context describing neighboring genes

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Genomic regions, transcripts, and products

Genomic Sequence

Go to nucleotideGraphics FASTA GenBank

Go to reference sequence details

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Bibliography

GeneRIFs: Gene References Into Functions What's a GeneRIF?

Observational study of gene-disease association. (HuGE Navigator)
Title: Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.
CIA30 is a crucial component in the early assembly of complex I and mutations in its gene can cause mitochondrial disease
Title: Human CIA30 is involved in the early assembly of mitochondrial complex I and mutations in its gene cause disease.
Study shows a mitochondrial function for Ecsit in the assembly of mitochondrial complex I, an N-terminal targeting signal directs Ecsit to mitochondria, where it interacts with assembly chaperone NDUFAF1.
Title: Cytosolic signaling protein Ecsit also localizes to mitochondria where it interacts with chaperone NDUFAF1 and functions in complex I assembly.
the involvement of NDUFAF1 in the assembly process could be indirect rather than direct via the binding to assembly intermediates
Title: Investigation of the complex I assembly chaperones B17.2L and NDUFAF1 in a cohort of CI deficient patients.
NDUFAF1 is an important protein for the assembly/stability of complex I (NADH:ubiquinone oxidoreductase).
Title: Human mitochondrial complex I assembly is mediated by NDUFAF1.

Submit: New GeneRIF Correction

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Phenotypes

Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Mitochondrial complex I deficiency

MIM: 252010

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Products	Interactant	Other Gene	Source	Pubs	Description
Q9Y375	P43364	MAGEA11	HPRD	PubMed
BioGRID:119292	BioGRID:106961	ATIC	BioGRID	PubMed	Affinity Capture-MS
BioGRID:119292	BioGRID:110284	MAGEA11	BioGRID	PubMed	Two-hybrid

Function	Evidence Code	Pubs
protein binding	IPI Inferred from Physical Interaction more info	PubMed
unfolded protein binding	NAS Non-traceable Author Statement more info	PubMed

Process	Evidence Code	Pubs
mitochondrial electron transport, NADH to ubiquinone	NAS Non-traceable Author Statement more info	PubMed
protein complex assembly	NAS Non-traceable Author Statement more info	PubMed

Component	Evidence Code	Pubs
cytoplasm	IDA Inferred from Direct Assay more info	PubMed
mitochondrial respiratory chain complex I	NAS Non-traceable Author Statement more info	PubMed
mitochondrion	IEA Inferred from Electronic Annotation more info

General protein information

Preferred Names: complex I intermediate-associated protein 30, mitochondrial

Names: complex I intermediate-associated protein 30, mitochondrial; NADH-ubiquinone oxidoreductase 1 alpha subcomplex, assembly factor 1; NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, assembly factor 1

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NCBI Reference Sequences (RefSeq)

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.

Genomic

NG_031924.1 RefSeqGene

Range

5001..20112

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_016013.3 → NP_057097.2 complex I intermediate-associated protein 30, mitochondrial precursor

Status: REVIEWED

Description

Transcript Variant: This variant (1) represents the predominant transcript and is protein-coding.

Source sequence(s)

AK309889, BC000780, BG192055

Consensus CDS

CCDS10075.1

UniProtKB/Swiss-Prot

Q9Y375

Related

ENSP00000260361, OTTHUMP00000160860, ENST00000260361, OTTHUMT00000252692

Conserved Domains (1) summary

cl15292
Location:125 – 298
Blast Score: 435

CIA30; Complex I intermediate-associated protein 30 (CIA30)

RNA

NR_045620.1 RNA Sequence

Description

Transcript Variant: This variant (2) contains an alternate internal exon compared to variant 1. This variant is represented as non-coding because the use of the 5'-most expected translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).

Source sequence(s)

AI911511, AK309889, AK310983, BG192055

RefSeqs of Annotated Genomes: Build 37.3

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

Reference GRCh37.p5 Primary Assembly

Genomic

NC_000015.9 Reference GRCh37.p5 Primary Assembly

Range

41679551..41694642, complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

Alternate HuRef

Genomic

AC_000147.1 Alternate HuRef

Range

18529139..18543160, complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

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Related Sequences

Nucleotide		Protein
Heading	Accession and Version	Protein
genomic	AC087721.4 (74422..89513)	None
genomic	CH471125.1	EAW92487.1
		EAW92488.1
		EAW92489.1
mRNA	AF151823.1	AAD34060.1
mRNA	AI911511.1	None
mRNA	AK309889.1	None
mRNA	AK310983.1	None
mRNA	BC000780.2	AAH00780.1
mRNA	BG192055.1	None