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

Gene ID: 4702, updated on 26-May-2016
Official Symbol
NDUFA8provided by HGNC
Official Full Name
NADH:ubiquinone oxidoreductase subunit A8provided by HGNC
Primary source
HGNC:HGNC:7692
See related
Ensembl:ENSG00000119421 HPRD:04525; MIM:603359; Vega:OTTHUMG00000020598
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]
Orthologs
Location:
9q33.2
Exon count:
5
Annotation release Status Assembly Chr Location
107 current GRCh38.p2 (GCF_000001405.28) 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 uncharacterized LOC105376260 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

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

NHGRI GWAS Catalog

Description
Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.
NHGRI GWA Catalog
Products Interactant Other Gene Complex Source Pubs Description

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 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 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
 
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_055037.1

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_014222.2NP_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, BU602971
    Consensus CDS
    CCDS6835.1
    UniProtKB/Swiss-Prot
    P51970
    Related
    ENSP00000362873, OTTHUMP00000022034, ENST00000373768, OTTHUMT00000053909
    Conserved Domains (1) summary
    pfam06747
    Location:78111
    CHCH; CHCH domain

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 107 details...

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

Reference GRCh38.p2 Primary Assembly

Genomic

  1. NC_000009.12 Reference GRCh38.p2 Primary Assembly

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

mRNA and Protein(s)

  1. XM_005251998.2XP_005252055.1  

    Conserved Domains (1) summary
    pfam06747
    Location:78111
    CHCH; CHCH domain

Alternate CHM1_1.1

Genomic

  1. NC_018920.2 Alternate CHM1_1.1

    Range
    125054401..125070162 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)