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

Gene ID: 51079, updated on 6-Oct-2024

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; AllianceGenome:HGNC:17194
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; MC1DN28
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
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Genomic context

See NDUFA13 in Genome Data Viewer
Location:
19p13.11
Exon count:
5
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 19 NC_000019.10 (19516225..19528198)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 19 NC_060943.1 (19653712..19665685)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 19 NC_000019.9 (19627034..19639007)

Chromosome 19 - NC_000019.10Genomic Context describing neighboring genes Neighboring gene GATA zinc finger domain containing 2A Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:19546839-19547444 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14354 Neighboring gene microRNA 640 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:19563343-19563843 Neighboring gene Sharpr-MPRA regulatory region 5941 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14356 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14357 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:19573083-19573864 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:19583474-19584166 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:19584167-19584858 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10444 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:19585552-19586243 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:19593349-19593956 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:19595063-19595847 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr19:19599635-19600834 Neighboring gene Sharpr-MPRA regulatory region 10818/8147 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr19:19602420-19603619 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:19615802-19616302 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10445 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14360 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:19635662-19636637 Neighboring gene Sharpr-MPRA regulatory region 9511 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:19638979-19639479 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:19640455-19641386 Neighboring gene testis specific serine kinase 6 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10446 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10447 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:19650412-19651074 Neighboring gene Sharpr-MPRA regulatory region 4095 Neighboring gene YjeF N-terminal domain containing 3 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:19656191-19656874 Neighboring gene cartilage intermediate layer protein 2

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues 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?

Phenotypes

Associated conditions

Description Tests
Hurthle cell carcinoma of thyroid
MedGen: C0749424 OMIM: 607464 GeneReviews: Not available
Compare labs
Mitochondrial complex 1 deficiency, nuclear type 28
MedGen: C4748827 OMIM: 618249 GeneReviews: Not available
Compare labs

EBI GWAS Catalog

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

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Clone Names

  • FLJ58045, FLJ59191

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables ATP binding NAS
Non-traceable Author Statement
more info
PubMed 
enables endopeptidase activator activity IC
Inferred by Curator
more info
PubMed 
enables protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Component Evidence Code Pubs
located_in cytoplasm IDA
Inferred from Direct Assay
more info
PubMed 
located_in mitochondrial inner membrane IDA
Inferred from Direct Assay
more info
PubMed 
located_in mitochondrial inner membrane TAS
Traceable Author Statement
more info
 
located_in mitochondrial membrane IDA
Inferred from Direct Assay
more info
PubMed 
located_in mitochondrion HTP PubMed 
located_in mitochondrion IDA
Inferred from Direct Assay
more info
PubMed 
located_in nucleoplasm IDA
Inferred from Direct Assay
more info
PubMed 
part_of respiratory chain complex IDA
Inferred from Direct Assay
more info
PubMed 
part_of respiratory chain complex I IBA
Inferred from Biological aspect of Ancestor
more info
 
part_of respiratory chain complex I IDA
Inferred from Direct Assay
more info
PubMed 
part_of respiratory chain complex I IMP
Inferred from Mutant Phenotype
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)

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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.

Genomic

  1. NG_013380.1 RefSeqGene

    Range
    5016..16989
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_015965.7NP_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
    Consensus CDS
    CCDS12404.2
    UniProtKB/Swiss-Prot
    B4DF76, K7EK58, Q6PKI0, Q9H2L3, Q9P0J0, Q9Y327
    Related
    ENSP00000423673.1, ENST00000507754.9
    Conserved Domains (1) summary
    pfam06212
    Location:5128
    GRIM-19; GRIM-19 protein

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000019.10 Reference GRCh38.p14 Primary Assembly

    Range
    19516225..19528198
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060943.1 Alternate T2T-CHM13v2.0

    Range
    19653712..19665685
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)