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

Gene ID: 4715, updated on 5-Sep-2021

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
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
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Genomic context

See NDUFB9 in Genome Data Viewer
Location:
8q24.13
Exon count:
4
Annotation release Status Assembly Chr Location
109.20210514 current GRCh38.p13 (GCF_000001405.39) 8 NC_000008.11 (124539123..124549979)
105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 8 NC_000008.10 (125551364..125562220)

Chromosome 8 - NC_000008.11Genomic Context describing neighboring genes Neighboring gene ring finger protein 139 Neighboring gene TatD DNase domain containing 1 Neighboring gene microRNA 6844 Neighboring gene uncharacterized LOC105375740 Neighboring gene MTSS I-BAR domain containing 1 Neighboring gene uncharacterized LOC105375741

Genomic regions, transcripts, and products

Expression

  • 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

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • FLJ22885, DKFZp566O173

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 
Component Evidence Code Pubs
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
PubMed 
part_of mitochondrial respiratory chain complex I IDA
Inferred from Direct Assay
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

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

  1. NG_042266.1 RefSeqGene

    Range
    5022..15878
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001278645.2NP_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
  2. NM_001278646.2NP_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:229
    Complex1_LYR; Complex 1 protein (LYR family)
  3. NM_001311168.2NP_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/Swiss-Prot
    Q9Y6M9
    UniProtKB/TrEMBL
    E9PH64
    Related
    ENSP00000430322.1, ENST00000517367.1
    Conserved Domains (1) summary
    pfam05347
    Location:1461
    Complex1_LYR; Complex 1 protein (LYR family)
  4. NM_005005.3NP_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
    Q9Y6M9
    Related
    ENSP00000276689.3, ENST00000276689.8
    Conserved Domains (1) summary
    pfam05347
    Location:1472
    Complex1_LYR; Complex 1 protein (LYR family)

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20210514

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000008.11 Reference GRCh38.p13 Primary Assembly

    Range
    124539123..124549979
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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