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NDUFA12 NADH:ubiquinone oxidoreductase subunit A12 [ Homo sapiens (human) ]

Gene ID: 55967, updated on 19-Sep-2020

Summary

Official Symbol
NDUFA12provided by HGNC
Official Full Name
NADH:ubiquinone oxidoreductase subunit A12provided by HGNC
Primary source
HGNC:HGNC:23987
See related
Ensembl:ENSG00000184752 MIM:614530
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
B17.2; DAP13; MC1DN23
Summary
This gene encodes a protein which is part of mitochondrial complex 1, part of the oxidative phosphorylation system in mitochondria. Complex 1 transfers electrons to ubiquinone from NADH which establishes a proton gradient for the generation of ATP. Mutations in this gene are associated with Leigh syndrome due to mitochondrial complex 1 deficiency. Pseudogenes of this gene are located on chromosomes 5 and 13. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Apr 2012]
Expression
Ubiquitous expression in heart (RPKM 72.7), colon (RPKM 50.9) and 25 other tissues See more
Orthologs

Genomic context

See NDUFA12 in Genome Data Viewer
Location:
12q22
Exon count:
4
Annotation release Status Assembly Chr Location
109.20200815 current GRCh38.p13 (GCF_000001405.39) 12 NC_000012.12 (94971333..95003697, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 12 NC_000012.11 (95365104..95397489, complement)

Chromosome 12 - NC_000012.12Genomic Context describing neighboring genes Neighboring gene keratin 19 pseudogene 2 Neighboring gene microRNA 492 Neighboring gene uncharacterized LOC105369915 Neighboring gene nuclear receptor subfamily 2 group C member 1 Neighboring gene uncharacterized LOC112268099 Neighboring gene peroxiredoxin 6 pseudogene Neighboring gene FYVE, RhoGEF and PH domain containing 6

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?

HIV-1 interactions

Replication interactions

Interaction Pubs
Knockdown of NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 12 (NDUFA12) by siRNA enhances the early stages of HIV-1 replication in HeLa-CD4 cells infected with viral pseudotypes HIV89.6R and HIV8.2N PubMed

Go to the HIV-1, Human Interaction Database

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
NADH dehydrogenase (ubiquinone) activity NAS
Non-traceable Author Statement
more info
PubMed 
electron transfer activity IEA
Inferred from Electronic Annotation
more info
 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
mitochondrial ATP synthesis coupled electron transport IMP
Inferred from Mutant Phenotype
more info
PubMed 
mitochondrial electron transport, NADH to ubiquinone TAS
Traceable Author Statement
more info
 
mitochondrial respiratory chain complex I assembly TAS
Traceable Author Statement
more info
 
respiratory gaseous exchange NAS
Non-traceable Author Statement
more info
PubMed 
response to oxidative stress IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
response to oxidative stress IDA
Inferred from Direct Assay
more info
PubMed 
Component Evidence Code Pubs
cytosol IDA
Inferred from Direct Assay
more info
 
mitochondrial inner membrane TAS
Traceable Author Statement
more info
 
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 IMP
Inferred from Mutant Phenotype
more info
PubMed 
mitochondrion IDA
Inferred from Direct Assay
more info
 

General protein information

Preferred Names
NADH dehydrogenase [ubiquinone] 1 alpha subcomplex subunit 12
Names
13 kDa differentiation-associated protein
CI-B17.2
NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 12
NADH-ubiquinone oxidoreductase subunit B17.2
complex I B17.2 subunit
NP_001245267.1
NP_061326.1

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_032672.1 RefSeqGene

    Range
    5017..37381
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001258338.2NP_001245267.1  NADH dehydrogenase [ubiquinone] 1 alpha subcomplex subunit 12 isoform b

    See identical proteins and their annotated locations for NP_001245267.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) lacks an alternate exon which results in a frameshift and an early stop codon compared to variant 1. The resulting protein (isoform b) is shorter and has a distinct C-terminus compared to isoform a.
    Source sequence(s)
    BG943528, BU532909, DW441120
    Consensus CDS
    CCDS58263.1
    UniProtKB/Swiss-Prot
    Q9UI09
    Related
    ENSP00000450130.1, ENST00000547986.5
    Conserved Domains (1) summary
    cl01534
    Location:3757
    NDUFA12; NADH ubiquinone oxidoreductase subunit NDUFA12
  2. NM_018838.5NP_061326.1  NADH dehydrogenase [ubiquinone] 1 alpha subcomplex subunit 12 isoform a

    See identical proteins and their annotated locations for NP_061326.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longer transcript and encodes the longer protein (isoform a).
    Source sequence(s)
    AC011598, BC005936, BG943528
    Consensus CDS
    CCDS9050.1
    UniProtKB/Swiss-Prot
    Q9UI09
    Related
    ENSP00000330737.2, ENST00000327772.7
    Conserved Domains (1) summary
    pfam05071
    Location:37137
    NDUFA12; NADH ubiquinone oxidoreductase subunit NDUFA12

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20200815

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000012.12 Reference GRCh38.p13 Primary Assembly

    Range
    94971333..95003697 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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