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NDUFB8 NADH:ubiquinone oxidoreductase subunit B8 [ Homo sapiens (human) ]

Gene ID: 4714, updated on 3-Nov-2024

Summary

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Official Symbol
NDUFB8provided by HGNC
Official Full Name
NADH:ubiquinone oxidoreductase subunit B8provided by HGNC
Primary source
HGNC:HGNC:7703
See related
Ensembl:ENSG00000166136 MIM:602140; AllianceGenome:HGNC:7703
Gene type
protein coding
RefSeq status
VALIDATED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
ASHI; CI-ASHI; MC1DN32
Summary
Involved in mitochondrial respiratory chain complex I assembly. Located in mitochondrion. Part of mitochondrial inner membrane and respiratory chain complex I. Implicated in nuclear type mitochondrial complex I deficiency 32. Biomarker of Alzheimer's disease and Parkinson's disease. [provided by Alliance of Genome Resources, Nov 2024]
Expression
Ubiquitous expression in heart (RPKM 90.4), kidney (RPKM 70.2) and 25 other tissues See more
Orthologs
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Genomic context

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See NDUFB8 in Genome Data Viewer
Location:
10q24.31
Exon count:
5
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 10 NC_000010.11 (100523729..100529923, complement)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 10 NC_060934.1 (101406832..101413008, complement)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 10 NC_000010.10 (102283486..102289680, complement)

Chromosome 10 - NC_000010.11Genomic Context describing neighboring genes Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr10:102242041-102242696 Neighboring gene VISTA enhancer hs1006 Neighboring gene Wnt family member 8B Neighboring gene MPRA-validated peak1070 silencer Neighboring gene SEC31 homolog B, COPII coat complex component Neighboring gene ATAC-STARR-seq lymphoblastoid active region 3893 Neighboring gene H3K27ac hESC enhancer GRCh37_chr10:102289335-102289917 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 3894 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 3895 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 3896 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr10:102321666-102322304 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr10:102322305-102322942 Neighboring gene hypoxia inducible factor 1 subunit alpha inhibitor Neighboring gene NANOG-H3K4me1 hESC enhancer GRCh37_chr10:102401951-102402580 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:102421749-102422248 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 2708 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:102440375-102440986 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:102443611-102444112 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:102447267-102447771 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:102473509-102474318 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr10:102496683-102497428 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr10:102497429-102498172 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 3899 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:102505530-102506071 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:102509961-102510895 Neighboring gene paired box 2 Neighboring gene VISTA enhancer hs229 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:102550131-102551044 Neighboring gene ReSE screen-validated silencer GRCh37_chr10:102551431-102551607 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:102562802-102563302 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:102567263-102567763 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:102576822-102577322

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • 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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Related articles in PubMed

  1. Identification of 167 polymorphisms in 88 genes from candidate neurodegeneration pathways. Emahazion T, et al. Gene, 1999 Oct 1. PMID 10570959
  2. NDUFB8 Mutations Cause Mitochondrial Complex I Deficiency in Individuals with Leigh-like Encephalomyopathy. Piekutowska-Abramczuk D, et al. Am J Hum Genet, 2018 Mar 1. PMID 29429571, Free PMC Article
  3. Using a quantitative quadruple immunofluorescent assay to diagnose isolated mitochondrial Complex I deficiency. Ahmed ST, et al. Sci Rep, 2017 Nov 15. PMID 29142257, Free PMC Article
  4. PTEN and NDUFB8 aberrations in cervical cancer tissue. Hsieh SM, et al. Adv Exp Med Biol, 2007. PMID 17727244
  5. In situ hybridisation mapping of genomic clones for five human respiratory chain complex I genes. Dunbar DR, et al. Cytogenet Cell Genet, 1997. PMID 9345899

See all (57) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. We observed loss of NDUFB8 immunoreactivity in all patients with mutations affecting nuclear-encoding structural subunits and assembly factors, whilst only 3 of the 10 patients with mutations affecting mtDNA-encoded structural subunits showed loss of NDUFB8, confirmed by BN-PAGE analysis of CI assembly and IHC using an alternative, commercially-available CI (NDUFS3) antibody.
    Title: Using a quantitative quadruple immunofluorescent assay to diagnose isolated mitochondrial Complex I deficiency.
  2. NDUFB8 is a relevant gene in childhood-onset mitochondrial disease.
    Title: NDUFB8 Mutations Cause Mitochondrial Complex I Deficiency in Individuals with Leigh-like Encephalomyopathy.
  3. Observational study of gene-disease association. (HuGE Navigator)
    Title: Polymorphisms in mitochondrial genes and prostate cancer risk.
  4. Results describe PTEN and NDUFB8 aberrations in cervical cancer tissue.
    Title: PTEN and NDUFB8 aberrations in cervical cancer tissue.
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 32
MedGen: C4748839 OMIM: 618252 GeneReviews: Not available
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EBI GWAS Catalog

Description
Genome-wide association study identifies novel loci associated with concentrations of four plasma phospholipid fatty acids in the de novo lipogenesis pathway: results from the Cohorts for Heart and Aging Research in Genomic Epidemiology (CHARGE) consortiu
EBI GWAS Catalog

Variation

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See Variation Viewer (GRCh37.p13)

Pathways from PubChem

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Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables NADH dehydrogenase (ubiquinone) activity NAS
Non-traceable Author Statement
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 proton 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
  
located_in mitochondrial matrix TAS
Traceable Author Statement
more info
  
located_in mitochondrion HTP PubMed 
located_in mitochondrion IDA
Inferred from Direct Assay
more info
  
part_of respiratory chain complex I IBA
Inferred from Biological aspect of Ancestor
more info
  
part_of respiratory chain complex I IDA
Inferred from Direct Assay
more info
 PubMed 
part_of respiratory chain complex I IMP
Inferred from Mutant Phenotype
more info
 PubMed 
part_of respiratory chain complex I NAS
Non-traceable Author Statement
more info
 PubMed 

General protein information

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Preferred Names
NADH dehydrogenase [ubiquinone] 1 beta subcomplex subunit 8, mitochondrial
Names
NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 8, 19kDa
NADH:ubiquinone oxidoreductase ASHI subunit
complex I ASHI subunit
complex I-ASHI
NP_001271296.1
NP_001271297.1
NP_004995.1

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)

  1. NM_001284367.2 → NP_001271296.1  NADH dehydrogenase [ubiquinone] 1 beta subcomplex subunit 8, mitochondrial isoform 2

    See identical proteins and their annotated locations for NP_001271296.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) uses an alternate splice site in the 3' coding region, which results in a frameshift, compared to variant 1. It encodes isoform 2, which has a shorter and distinct C-terminus, compared to isoform 1.
    Source sequence(s)
    AI282606, BM686677, DA428446
    Consensus CDS
    CCDS65917.1
    UniProtKB/TrEMBL
    E9PQ68
    Related
    ENSP00000359344.4, ENST00000370320.4
    Conserved Domains (1) summary
    pfam05821
    Location:21 → 164
    NDUF_B8; NADH-ubiquinone oxidoreductase ASHI subunit (CI-ASHI or NDUFB8)

  2. NM_001284368.1 → NP_001271297.1  NADH dehydrogenase [ubiquinone] 1 beta subcomplex subunit 8, mitochondrial isoform 3

    See identical proteins and their annotated locations for NP_001271297.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (3) uses an alternate splice site in the 5' terminal exon, lacks a portion of the 5' coding region, and initiates translation at a downstream start codon, compared to variant 1. The encoded isoform (3) has a shorter N-terminus compared to isoform 1.
    Source sequence(s)
    AA782554, AI282606, BM008944, DA428446
    Consensus CDS
    CCDS65916.1
    UniProtKB/Swiss-Prot
    O95169
    Related
    ENSP00000359346.1, ENST00000370322.5
    Conserved Domains (1) summary
    pfam05821
    Location:1 → 155
    NDUF_B8; NADH-ubiquinone oxidoreductase ASHI subunit (CI-ASHI or NDUFB8)

  3. NM_005004.4 → NP_004995.1  NADH dehydrogenase [ubiquinone] 1 beta subcomplex subunit 8, mitochondrial isoform 1 precursor

    See identical proteins and their annotated locations for NP_004995.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) encodes the longest isoform (1).
    Source sequence(s)
    BC000466, DA428446
    Consensus CDS
    CCDS7497.1
    UniProtKB/Swiss-Prot
    A8K0L4, O95169, Q5W143, Q5W144, Q5W145, Q9UG53, Q9UJR4, Q9UQF3
    UniProtKB/TrEMBL
    E9PQ68
    Related
    ENSP00000299166.4, ENST00000299166.9
    Conserved Domains (1) summary
    pfam05821
    Location:21 → 186
    NDUF_B8; NADH-ubiquinone oxidoreductase ASHI subunit (CI-ASHI or NDUFB8)

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000010.11 Reference GRCh38.p14 Primary Assembly

    Range
    100523729..100529923 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060934.1 Alternate T2T-CHM13v2.0

    Range
    101406832..101413008 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
O95169.1 GenPept UniProtKB/Swiss-Prot:O95169

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