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NDUFA8 NADH:ubiquinone oxidoreductase subunit A8 [ Homo sapiens (human) ]

Gene ID: 4702, updated on 15-Apr-2019

Summary

Official Symbol
NDUFA8provided by HGNC
Official Full Name
NADH:ubiquinone oxidoreductase subunit A8provided by HGNC
Primary source
HGNC:HGNC:7692
See related
Ensembl:ENSG00000119421 MIM:603359
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
PGIV; CI-19KD; CI-PGIV
Summary
The protein encoded by this gene belongs to the complex I 19 kDa subunit family. Mammalian complex I is composed of 45 different subunits. This protein has NADH dehydrogenase activity and oxidoreductase activity. It plays an important role in transfering electrons from NADH to the respiratory chain. The immediate electron acceptor for the enzyme is believed to be ubiquinone. Alternative splicing of this gene results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Dec 2015]
Expression
Ubiquitous expression in heart (RPKM 64.4), testis (RPKM 25.8) and 24 other tissues See more
Orthologs

Genomic context

See NDUFA8 in Genome Data Viewer
Location:
9q33.2
Exon count:
5
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 9 NC_000009.12 (122132466..122159819, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 9 NC_000009.11 (124894745..124922098, complement)

Chromosome 9 - NC_000009.12Genomic Context describing neighboring genes Neighboring gene tubulin tyrosine ligase like 11 Neighboring gene microRNA 4478 Neighboring gene MORN repeat containing 5 Neighboring gene LIM homeobox 6 Neighboring gene RNA binding motif protein 18 Neighboring gene mitochondrial ribosome recycling factor

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 FunctionsWhat's a GeneRIF?

Phenotypes

NHGRI GWAS Catalog

Description
Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.
NHGRI GWA Catalog

Pathways from BioSystems

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • MGC793

Gene Ontology Provided by GOA

Function Evidence Code Pubs
NADH dehydrogenase (ubiquinone) activity NAS
Non-traceable Author Statement
more info
PubMed 
protein-containing complex binding IDA
Inferred from Direct Assay
more info
PubMed 
Component Evidence Code Pubs
mitochondrial inner membrane TAS
Traceable Author Statement
more info
 
mitochondrial intermembrane space IDA
Inferred from Direct Assay
more info
PubMed 
mitochondrial respiratory chain complex I IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
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 IDA
Inferred from Direct Assay
more info
PubMed 

General protein information

Preferred Names
NADH dehydrogenase [ubiquinone] 1 alpha subcomplex subunit 8
Names
NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 8, 19kDa
NADH-ubiquinone oxidoreductase 19 kDa subunit
NADH:ubiquinone oxidoreductase PGIV subunit
complex I-19kD
complex I-PGIV
NP_001305124.1
NP_055037.1

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.

Genomic

  1. NG_042279.2 RefSeqGene

    Range
    5001..20762
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001318195.1NP_001305124.1  NADH dehydrogenase [ubiquinone] 1 alpha subcomplex subunit 8 isoform 2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) contains an alternate 3' terminal exon, compared to variant 1. It encodes isoform 2 which is shorter and has a distinct C-terminus, compared to isoform 1.
    Source sequence(s)
    AK301520, AL162423, BU602971
    UniProtKB/TrEMBL
    B7Z768
    Conserved Domains (1) summary
    pfam06747
    Location:78111
    CHCH; CHCH domain
  2. NM_014222.3NP_055037.1  NADH dehydrogenase [ubiquinone] 1 alpha subcomplex subunit 8 isoform 1

    See identical proteins and their annotated locations for NP_055037.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the shorter transcript and encodes the longer isoform (1).
    Source sequence(s)
    AK314135, BC001016
    Consensus CDS
    CCDS6835.1
    UniProtKB/Swiss-Prot
    P51970
    Related
    ENSP00000362873.3, ENST00000373768.4
    Conserved Domains (1) summary
    pfam06747
    Location:78111
    CHCH; CHCH domain

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109

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

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000009.12 Reference GRCh38.p12 Primary Assembly

    Range
    122132466..122159819 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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