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

Gene ID: 4714, updated on 5-Aug-2022

Summary

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 endoplasmic reticulum and mitochondrion. Part of mitochondrial 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, Apr 2022]
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

See NDUFB8 in Genome Data Viewer
Location:
10q24.31
Exon count:
5
Annotation release Status Assembly Chr Location
110 current GRCh38.p14 (GCF_000001405.40) 10 NC_000010.11 (100523729..100529923, complement)
110 current T2T-CHM13v2.0 (GCF_009914755.1) 10 NC_060934.1 (101406832..101413008, complement)
105.20220307 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 VISTA enhancer hs1006 Neighboring gene SEC31 homolog B, COPII coat complex component Neighboring gene hypoxia inducible factor 1 subunit alpha inhibitor Neighboring gene paired box 2 Neighboring gene VISTA enhancer hs229

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

Phenotypes

Associated conditions

Description Tests
Mitochondrial complex 1 deficiency, nuclear type 32
MedGen: C4748839 OMIM: 618252 GeneReviews: Not available
Compare labs

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

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables NADH dehydrogenase (ubiquinone) activity NAS
Non-traceable Author Statement
more info
PubMed 

General protein information

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_001284367.2NP_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/Swiss-Prot
    O95169
    Related
    ENSP00000359344.4, ENST00000370320.4
    Conserved Domains (1) summary
    pfam05821
    Location:21164
    NDUF_B8; NADH-ubiquinone oxidoreductase ASHI subunit (CI-ASHI or NDUFB8)
  2. NM_001284368.1NP_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:1155
    NDUF_B8; NADH-ubiquinone oxidoreductase ASHI subunit (CI-ASHI or NDUFB8)
  3. NM_005004.4NP_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
    O95169, Q9UQF3
    Related
    ENSP00000299166.4, ENST00000299166.9
    Conserved Domains (1) summary
    pfam05821
    Location:21186
    NDUF_B8; NADH-ubiquinone oxidoreductase ASHI subunit (CI-ASHI or NDUFB8)

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 110 details...Open this link in a new tab

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)