NDUFB9 NADH:ubiquinone oxidoreductase subunit B9 [Homo sapiens (human)] - Gene

Summary

Official Symbol: NDUFB9provided by HGNC
Official Full Name: NADH:ubiquinone oxidoreductase subunit B9provided by HGNC
Primary source: HGNC:HGNC:7704
See related: Ensembl:ENSG00000147684 MIM:601445; AllianceGenome:HGNC:7704
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: B22; LYRM3; CI-B22; UQOR22; MC1DN24
Summary: The protein encoded by this gene is a subunit of the mitochondrial oxidative phosphorylation complex I (nicotinamide adenine dinucleotide: ubiquinone oxidoreductase). Complex I is localized to the inner mitochondrial membrane and functions to dehydrogenate nicotinamide adenine dinucleotide and to shuttle electrons to coenzyme Q. Complex I deficiency is the most common defect found in oxidative phosphorylation disorders and results in a range of conditions, including lethal neonatal disease, hypertrophic cardiomyopathy, liver disease, and adult-onset neurodegenerative disorders. Pseudogenes of this gene are found on chromosomes five, seven and eight. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2015]
Expression: Ubiquitous expression in heart (RPKM 119.4), kidney (RPKM 111.6) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 8q24.13

Exon count:: 4

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	8	NC_000008.11 (124539123..124549979)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	8	NC_060932.1 (125672139..125682993)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	8	NC_000008.10 (125551364..125562220)

Chromosome 8 - NC_000008.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Down-Regulation of NDUFB9 Promotes Breast Cancer Cell Proliferation, Metastasis by Mediating Mitochondrial Metabolism.
Title: Down-Regulation of NDUFB9 Promotes Breast Cancer Cell Proliferation, Metastasis by Mediating Mitochondrial Metabolism.
Mutant NDUFB9 is a new cause of complex I deficiency.
Title: Mutation screening of 75 candidate genes in 152 complex I deficiency cases identifies pathogenic variants in 16 genes including NDUFB9.
This protein has been found differentially expressed in thalami from patients with schizophrenia.
Title: Proteome analysis of the thalamus and cerebrospinal fluid reveals glycolysis dysfunction and potential biomarkers candidates for schizophrenia.
Observational study of gene-disease association. (HuGE Navigator)
Title: Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.

Submit: New GeneRIF Correction

Phenotypes

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

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description	Tests
Mitochondrial complex 1 deficiency, nuclear type 24 MedGen: C4748803 OMIM: 618245 GeneReviews: Not available	Compare labs

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

STS-AA037796 (e-PCR)
- UniSTS:79739

GDB:451700 (e-PCR)
- UniSTS:157350

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables NADH dehydrogenase (ubiquinone) activity	NAS Non-traceable Author Statement more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in aerobic respiration	NAS Non-traceable Author Statement more info	PubMed
involved_in mitochondrial electron transport, NADH to ubiquinone	NAS Non-traceable Author Statement more info	PubMed
involved_in mitochondrial respiratory chain complex I assembly	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in proton motive force-driven mitochondrial ATP synthesis	NAS Non-traceable Author Statement more info	PubMed
involved_in sensory perception of sound	TAS Traceable Author Statement more info	PubMed
involved_in transmembrane transport	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
located_in mitochondrial inner membrane	IDA Inferred from Direct Assay more info	PubMed
located_in mitochondrial inner membrane	TAS Traceable Author Statement more info
part_of mitochondrial respiratory chain complex I	IBA Inferred from Biological aspect of Ancestor more info
part_of mitochondrial respiratory chain complex I	IDA Inferred from Direct Assay more info	PubMed
part_of mitochondrial respiratory chain complex I	IPI Inferred from Physical Interaction more info	PubMed
part_of mitochondrial respiratory chain complex I	NAS Non-traceable Author Statement more info	PubMed
located_in mitochondrion	IDA Inferred from Direct Assay more info

General protein information

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Preferred Names: NADH dehydrogenase [ubiquinone] 1 beta subcomplex subunit 9

Names: LYR motif-containing protein 3; NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 9, 22kDa; NADH-ubiquinone oxidoreductase B22 subunit; complex I B22 subunit

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.

Genomic

NG_042266.1 RefSeqGene

Range

5022..15878

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_001278645.2 → NP_001265574.1 NADH dehydrogenase [ubiquinone] 1 beta subcomplex subunit 9 isoform 2

Status: REVIEWED

Description

Transcript Variant:This variant (2) differs in the 5' UTR and uses a downstream start codon compared to variant 1. It encodes isoform 2, which has a shorter N-terminus compared to isoform 1.

Source sequence(s)

AC090198, BG991068, CN410734

UniProtKB/TrEMBL

Q9UQS5
NM_001278646.2 → NP_001265575.1 NADH dehydrogenase [ubiquinone] 1 beta subcomplex subunit 9 isoform 3

See identical proteins and their annotated locations for NP_001265575.1

Status: REVIEWED

Description

Transcript Variant: This variant (3) differs in the 5' UTR and uses a downstream start codon compared to variant 1. It encodes isoform 3, which has a shorter N-terminus compared to isoform 1.

Source sequence(s)

AC090198, BG703246, BG991068

Conserved Domains (1) summary

pfam05347
Location:2 → 29

Complex1_LYR; Complex 1 protein (LYR family)
NM_001311168.2 → NP_001298097.1 NADH dehydrogenase [ubiquinone] 1 beta subcomplex subunit 9 isoform 4

Status: REVIEWED

Description

Transcript Variant: This variant (4) uses an alternate in-frame splice site in the 5' coding region compared to variant 1. It encodes isoform 4, which is shorter than isoform 1.

Source sequence(s)

AF044956, AI907018, BQ685604, DB504123

Consensus CDS

CCDS83324.1

UniProtKB/TrEMBL

A0A7I2V620, E9PH64

Related

ENSP00000430322.1, ENST00000517367.1

Conserved Domains (1) summary

pfam05347
Location:14 → 61

Complex1_LYR; Complex 1 protein (LYR family)
NM_005005.3 → NP_004996.1 NADH dehydrogenase [ubiquinone] 1 beta subcomplex subunit 9 isoform 1

See identical proteins and their annotated locations for NP_004996.1

Status: REVIEWED

Description

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

Source sequence(s)

AF261090, AI907018

Consensus CDS

CCDS6352.1

UniProtKB/Swiss-Prot

B2R8M6, Q9UQE8, Q9Y6M9

UniProtKB/TrEMBL

A0A7I2V620

Related

ENSP00000276689.3, ENST00000276689.8

Conserved Domains (1) summary

pfam05347
Location:14 → 72

Complex1_LYR; Complex 1 protein (LYR family)