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NDUFA13 NADH:ubiquinone oxidoreductase subunit A13 [ Homo sapiens (human) ]

Gene ID: 51079, updated on 7-Oct-2018

Summary

Official Symbol
NDUFA13provided by HGNC
Official Full Name
NADH:ubiquinone oxidoreductase subunit A13provided by HGNC
Primary source
HGNC:HGNC:17194
See related
Ensembl:ENSG00000186010 MIM:609435; Vega:OTTHUMG00000162211
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
B16.6; CDA016; CGI-39; GRIM19; GRIM-19
Summary
This gene encodes a subunit of the mitochondrial membrane respiratory chain NADH dehydrogenase (Complex I), which functions in the transfer of electrons from NADH to the respiratory chain. The protein is required for complex I assembly and electron transfer activity. The protein binds the signal transducers and activators of transcription 3 (STAT3) transcription factor, and can function as a tumor suppressor. The human protein purified from mitochondria migrates at approximately 16 kDa. Transcripts originating from an upstream promoter and capable of expressing a protein with a longer N-terminus have been found, but their biological validity has not been determined. [provided by RefSeq, Oct 2009]
Expression
Ubiquitous expression in heart (RPKM 200.1), kidney (RPKM 160.9) and 25 other tissues See more
Orthologs

Genomic context

See NDUFA13 in Genome Data Viewer
Location:
19p13.11
Exon count:
5
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 19 NC_000019.10 (19516210..19528204)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 19 NC_000019.9 (19626550..19639858)

Chromosome 19 - NC_000019.10Genomic Context describing neighboring genes Neighboring gene GATA zinc finger domain containing 2A Neighboring gene microRNA 640 Neighboring gene testis specific serine kinase 6 Neighboring gene YjeF N-terminal domain containing 3 Neighboring gene cartilage intermediate layer protein 2

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 Jun 15 11:32:44 2016

Bibliography

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Phenotypes

Associated conditions

Description Tests
Hurthle cell carcinoma of thyroid
MedGen: C0749424 OMIM: 607464 GeneReviews: Not available
Compare labs
Mitochondrial complex I deficiency
MedGen: C1838979 OMIM: 252010 GeneReviews: Not available
Compare labs

NHGRI GWAS Catalog

Description
Biological insights from 108 schizophrenia-associated genetic loci.
NHGRI GWA Catalog
Genome-wide association analysis identifies 13 new risk loci for schizophrenia.
NHGRI GWA Catalog

Pathways from BioSystems

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • FLJ58045, FLJ59191

Gene Ontology Provided by GOA

Function Evidence Code Pubs
ATP binding NAS
Non-traceable Author Statement
more info
PubMed 
NADH dehydrogenase (ubiquinone) activity IDA
Inferred from Direct Assay
more info
PubMed 
NADH dehydrogenase activity IMP
Inferred from Mutant Phenotype
more info
PubMed 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
apoptotic signaling pathway IDA
Inferred from Direct Assay
more info
PubMed 
cellular response to interferon-beta IDA
Inferred from Direct Assay
more info
PubMed 
cellular response to retinoic acid IDA
Inferred from Direct Assay
more info
PubMed 
extrinsic apoptotic signaling pathway IEA
Inferred from Electronic Annotation
more info
 
mitochondrial respiratory chain complex I assembly IMP
Inferred from Mutant Phenotype
more info
PubMed 
mitochondrial respiratory chain complex I assembly TAS
Traceable Author Statement
more info
 
negative regulation of cell growth IDA
Inferred from Direct Assay
more info
PubMed 
negative regulation of cell growth IMP
Inferred from Mutant Phenotype
more info
PubMed 
negative regulation of intrinsic apoptotic signaling pathway IMP
Inferred from Mutant Phenotype
more info
PubMed 
negative regulation of transcription, DNA-templated IDA
Inferred from Direct Assay
more info
PubMed 
oxidation-reduction process IEA
Inferred from Electronic Annotation
more info
 
positive regulation of cysteine-type endopeptidase activity involved in apoptotic process IGI
Inferred from Genetic Interaction
more info
PubMed 
positive regulation of peptidase activity IC
Inferred by Curator
more info
PubMed 
positive regulation of protein catabolic process IGI
Inferred from Genetic Interaction
more info
PubMed 
protein import into mitochondrial inner membrane IDA
Inferred from Direct Assay
more info
PubMed 
reactive oxygen species metabolic process IMP
Inferred from Mutant Phenotype
more info
PubMed 
Component Evidence Code Pubs
cytoplasm IDA
Inferred from Direct Assay
more info
PubMed 
integral component of membrane IEA
Inferred from Electronic Annotation
more info
 
mitochondrial inner membrane TAS
Traceable Author Statement
more info
 
mitochondrial membrane IDA
Inferred from Direct Assay
more info
PubMed 
mitochondrial respiratory chain 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 IMP
Inferred from Mutant Phenotype
more info
PubMed 
mitochondrion IDA
Inferred from Direct Assay
more info
PubMed 
nucleoplasm IDA
Inferred from Direct Assay
more info
PubMed 

General protein information

Preferred Names
NADH dehydrogenase [ubiquinone] 1 alpha subcomplex subunit 13
Names
CI-B16.6
NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 13
NADH-ubiquinone oxidoreductase B16.6 subunit
cell death regulatory protein GRIM-19
cell death-regulatory protein GRIM19
complex I B16.6 subunit
complex I-B16.6
gene associated with retinoic and IFN-induced mortality 19 protein
gene associated with retinoic and interferon-induced mortality 19 protein
NP_057049.5

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_013380.1 RefSeqGene

    Range
    5001..16995
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_015965.6NP_057049.5  NADH dehydrogenase [ubiquinone] 1 alpha subcomplex subunit 13

    See identical proteins and their annotated locations for NP_057049.5

    Status: REVIEWED

    Source sequence(s)
    BC009189, BG705222, BM839920
    Consensus CDS
    CCDS12404.2
    UniProtKB/Swiss-Prot
    Q9P0J0
    Related
    ENSP00000423673.1, OTTHUMP00000221579, ENST00000507754.8, OTTHUMT00000367916
    Conserved Domains (1) summary
    pfam06212
    Location:5128
    GRIM-19; GRIM-19 protein

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109 details...Open this link in a new tab

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

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000019.10 Reference GRCh38.p12 Primary Assembly

    Range
    19516210..19528204
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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