NDUFA5 NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 5, 13kDa [Homo sapiens] - Gene

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Summary

Official Symbol: NDUFA5provided by HGNC
Official Full Name: NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 5, 13kDaprovided by HGNC
Primary source: HGNC:7688
See related: Ensembl:ENSG00000128609; HPRD:03398; MIM:601677; Vega:OTTHUMG00000157348
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: B13; NUFM; UQOR13; CI-13kB; CI-13KD-B; FLJ12147; DKFZp781K1356
Summary: The human NDUFA5 gene codes for the B13 subunit of complex I of the respiratory chain, which transfers electrons from NADH to ubiquinone. The high degree of conservation of NDUFA5 extending to plants and fungi indicates its functional significance in the enzyme complex. The protein localizes to the inner mitochondrial membrane as part of the 7 component-containing, water soluble "iron-sulfur protein" (IP) fraction of complex I, although its specific role is unknown. It is assumed to undergo post-translational removal of the initiator methionine and N-acetylation of the next amino acid. The predicted secondary structure is primarily alpha helix, but the carboxy-terminal half of the protein has high potential to adopt a coiled-coil form. The amino-terminal part contains a putative beta sheet rich in hydrophobic amino acids that may serve as mitochondrial import signal. Related pseudogenes have also been identified on four other chromosomes. [provided by RefSeq, Jul 2008]

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Genomic context

Location :: 7q31.33

Sequence :: Chromosome: 7; NC_000007.13 (123181083..123197958, complement)

See NDUFA5 in Epigenomics, MapViewer

Chromosome 7 - NC_000007.13 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?

SNPs rs12666974 and rs3779262 significantly associated with autism
Title: The NADH-ubiquinone oxidoreductase 1 alpha subcomplex 5 (NDUFA5) gene variants are associated with autism.
Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
Title: Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
Observational study of gene-disease association. (HuGE Navigator)
Title: Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.

Submit: New GeneRIF Correction

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Phenotypes

Review eQTL and phenotype association data in this region using PheGenI

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Products	Interactant	Other Gene	Source	Pubs	Description
Q16718	Q15834	CCDC85B	HPRD	PubMed
Q16718	Q15038	DAZAP2	HPRD	PubMed
Q16718	O75438	NDUFB1	HPRD	PubMed
BioGRID:110778	BioGRID:118855	BABAM1	BioGRID	PubMed	Affinity Capture-MS
BioGRID:110778	BioGRID:116198	CCDC85B	BioGRID	PubMed	Two-hybrid
BioGRID:110778	BioGRID:115143	DAZAP2	BioGRID	PubMed	Two-hybrid
BioGRID:110778	BioGRID:108102	DMWD	BioGRID	PubMed	Affinity Capture-MS
BioGRID:110778	BioGRID:110694	MYC	BioGRID	PubMed	Affinity Capture-MS
BioGRID:110778	BioGRID:110787	NDUFB1	BioGRID	PubMed	Two-hybrid
BioGRID:110778	BioGRID:113164	UBC	BioGRID	PubMed	Affinity Capture-MS; Reconstituted Complex

Function	Evidence Code	Pubs
NADH dehydrogenase (ubiquinone) activity	NAS Non-traceable Author Statement more info	PubMed
oxidoreductase activity, acting on NADH or NADPH	IEA Inferred from Electronic Annotation more info

Process	Evidence Code	Pubs
mitochondrial electron transport, NADH to ubiquinone	NAS Non-traceable Author Statement more info	PubMed
respiratory electron transport chain	IEA Inferred from Electronic Annotation more info
respiratory electron transport chain	TAS Traceable Author Statement more info
small molecule metabolic process	TAS Traceable Author Statement more info
transport	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
membrane	IEA Inferred from Electronic Annotation more info
mitochondrial inner membrane	IEA Inferred from Electronic Annotation more info
mitochondrial inner membrane	TAS Traceable Author Statement more info
mitochondrial respiratory chain complex I	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
respiratory chain	IEA Inferred from Electronic Annotation more info

General protein information

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

Names: NADH dehydrogenase [ubiquinone] 1 alpha subcomplex subunit 5; Complex I-13KD-B; type I dehydrogenase; ubiquinone reductase; complex I subunit B13; complex I 13kDa subunit B; NADH-ubiquinone oxidoreductase 13 kDa-B subunit

NP_004991.1

EC 1.6.5.3

EC 1.6.99.3

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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.

mRNA and Protein(s)

NM_005000.2 → NP_004991.1 NADH dehydrogenase [ubiquinone] 1 alpha subcomplex subunit 5

Status: REVIEWED

Source sequence(s)

AH007524

Consensus CDS

CCDS5788.1

UniProtKB/Swiss-Prot

Q16718

Related

ENSP00000347988, OTTHUMP00000212002, ENST00000355749, OTTHUMT00000348533

Conserved Domains (1) summary

pfam04716
Location:19 – 74
Blast Score: 189

ETC_C1_NDUFA5; ETC complex I subunit conserved region

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_000007.13 Reference GRCh37.p5 Primary Assembly

Range

123181083..123197958, complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

Alternate HuRef

Genomic

AC_000139.1 Alternate HuRef

Range

117543876..117560767, complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

Alternate CRA_TCAGchr7v2

Genomic

AC_000068.1 Alternate CRA_TCAGchr7v2

Range

122569696..122586588, complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

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Related Sequences

Nucleotide		Protein
Heading	Accession and Version	Protein
genomic	AC073323.5	AAQ96854.1
genomic	AF044418.1	AAD21526.1
genomic	CH236947.1 (4899870..4916762)	None
genomic	CH471070.1	EAW83587.1
		EAW83588.1
		EAW83589.1
		EAW83590.1
		EAW83591.1
		EAW83592.1
		EAW83593.1
mRNA	AK022209.1	BAB13985.1
mRNA	AK315458.1	BAG37845.1
mRNA	BC000813.1	AAH00813.1
mRNA	BC020821.1	AAH20821.1
mRNA	BC070236.1	AAH70236.1
mRNA	BC070237.1	AAH70237.1
mRNA	BT006695.1	AAP35341.1
mRNA	CR933664.1	CAI45962.1
mRNA	U53468.1	AAB02224.1
mRNA	U64028.1	AAB37259.1

Protein Accession	Links
Protein Accession	GenPept Link	UniProtKB Link
Q16718.3	GenPept	UniProtKB/Swiss-Prot:Q16718
Q5H9R2	GenPept	UniProtKB/TrEMBL:Q5H9R2
Q9HA70	GenPept	UniProtKB/TrEMBL:Q9HA70