Format

Send to:

Choose Destination

NDUFS3 NADH:ubiquinone oxidoreductase core subunit S3 [ Homo sapiens (human) ]

Gene ID: 4722, updated on 5-Jan-2020

Summary

Official Symbol
NDUFS3provided by HGNC
Official Full Name
NADH:ubiquinone oxidoreductase core subunit S3provided by HGNC
Primary source
HGNC:HGNC:7710
See related
Ensembl:ENSG00000213619 MIM:603846
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
CI-30; MC1DN8
Summary
This gene encodes one of the iron-sulfur protein (IP) components of mitochondrial NADH:ubiquinone oxidoreductase (complex I). Mutations in this gene are associated with Leigh syndrome resulting from mitochondrial complex I deficiency.[provided by RefSeq, Apr 2009]
Expression
Ubiquitous expression in heart (RPKM 45.6), duodenum (RPKM 44.2) and 25 other tissues See more
Orthologs

Genomic context

See NDUFS3 in Genome Data Viewer
Location:
11p11.2
Exon count:
7
Annotation release Status Assembly Chr Location
109.20191205 current GRCh38.p13 (GCF_000001405.39) 11 NC_000011.10 (47579074..47584562)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 11 NC_000011.9 (47600562..47606115)

Chromosome 11 - NC_000011.10Genomic Context describing neighboring genes Neighboring gene CUGBP Elav-like family member 1 Neighboring gene protein tyrosine phosphatase mitochondrial 1 Neighboring gene RNA, U5E small nuclear 10, pseudogene Neighboring gene kelch repeat and BTB domain containing 4 Neighboring gene family with sequence similarity 180 member B Neighboring gene C1q and TNF related 4

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?

Phenotypes

Associated conditions

Description Tests
MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 8
MedGen: C4748766 OMIM: 618230 GeneReviews: Not available
Compare labs

NHGRI GWAS Catalog

Description
Association analyses of 249,796 individuals reveal 18 new loci associated with body mass index.
NHGRI GWA Catalog

HIV-1 interactions

Replication interactions

Interaction Pubs
Knockdown of NADH dehydrogenase (ubiquinone) Fe-S protein 3 (NADH-coenzyme Q reductase, 30kDa; NDUFS3) by siRNA inhibits HIV-1 replication in HeLa P4/R5 cells 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

Potential readthrough

Included gene: PTPMT1

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
NADH dehydrogenase (ubiquinone) activity NAS
Non-traceable Author Statement
more info
PubMed 
NADH dehydrogenase activity IMP
Inferred from Mutant Phenotype
more info
PubMed 
electron transfer activity NAS
Non-traceable Author Statement
more info
PubMed 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Component Evidence Code Pubs
mitochondrial matrix TAS
Traceable Author Statement
more info
 
mitochondrial membrane 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
 
mitochondrion NAS
Non-traceable Author Statement
more info
PubMed 
nuclear body IDA
Inferred from Direct Assay
more info
 

General protein information

Preferred Names
NADH dehydrogenase [ubiquinone] iron-sulfur protein 3, mitochondrial
Names
CI-30kD
NADH dehydrogenase (ubiquinone) Fe-S protein 3, 30kDa (NADH-coenzyme Q reductase)
NADH dehydrogenase-ubiquinone 30 kDa subunit
NADH-ubiquinone oxidoreductase 30 kDa subunit
complex I 30kDa subunit
complex I-30kD
NP_004542.1

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_011946.2 RefSeqGene

    Range
    5065..10553
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_004551.3NP_004542.1  NADH dehydrogenase [ubiquinone] iron-sulfur protein 3, mitochondrial precursor

    See identical proteins and their annotated locations for NP_004542.1

    Status: REVIEWED

    Source sequence(s)
    BC000617
    Consensus CDS
    CCDS7941.1
    UniProtKB/Swiss-Prot
    O75489
    Related
    ENSP00000263774.4, ENST00000263774.9
    Conserved Domains (1) summary
    PRK06074
    Location:58240
    PRK06074; NADH dehydrogenase subunit C; Provisional

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20191205

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000011.10 Reference GRCh38.p13 Primary Assembly

    Range
    47579074..47584562
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Reference GRCh38.p13 PATCHES

Genomic

  1. NW_019805496.1 Reference GRCh38.p13 PATCHES

    Range
    6900..12388
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Support Center