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NDUFS1 NADH:ubiquinone oxidoreductase core subunit S1 [ Homo sapiens (human) ]

Gene ID: 4719, updated on 4-Nov-2018

Summary

Official Symbol
NDUFS1provided by HGNC
Official Full Name
NADH:ubiquinone oxidoreductase core subunit S1provided by HGNC
Primary source
HGNC:HGNC:7707
See related
Ensembl:ENSG00000023228 MIM:157655; Vega:OTTHUMG00000132892
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-75k; CI-75Kd; PRO1304
Summary
The protein encoded by this gene belongs to the complex I 75 kDa subunit family. Mammalian complex I is composed of 45 different subunits. It locates at the mitochondrial inner membrane. This protein has NADH dehydrogenase activity and oxidoreductase activity. It transfers electrons from NADH to the respiratory chain. The immediate electron acceptor for the enzyme is believed to be ubiquinone. This protein is the largest subunit of complex I and it is a component of the iron-sulfur (IP) fragment of the enzyme. It may form part of the active site crevice where NADH is oxidized. Mutations in this gene are associated with complex I deficiency. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2011]
Expression
Ubiquitous expression in heart (RPKM 52.2), kidney (RPKM 30.3) and 24 other tissues See more
Orthologs

Genomic context

See NDUFS1 in Genome Data Viewer
Location:
2q33.3
Exon count:
20
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 2 NC_000002.12 (206123079..206159519, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (206987803..207024243, complement)

Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105373848 Neighboring gene glycine cleavage system protein H pseudogene 3 Neighboring gene eukaryotic translation elongation factor 1 beta 2 Neighboring gene small nucleolar RNA, C/D box 51 Neighboring gene small nucleolar RNA, H/ACA box 41

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?

Pathways from BioSystems

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • MGC26839

Gene Ontology Provided by GOA

Function Evidence Code Pubs
2 iron, 2 sulfur cluster binding IEA
Inferred from Electronic Annotation
more info
 
4 iron, 4 sulfur cluster binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
contributes_to NADH dehydrogenase (ubiquinone) activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
contributes_to NADH dehydrogenase (ubiquinone) activity IMP
Inferred from Mutant Phenotype
more info
PubMed 
NADH dehydrogenase (ubiquinone) activity NAS
Non-traceable Author Statement
more info
PubMed 
contributes_to NADH dehydrogenase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
electron transfer activity NAS
Non-traceable Author Statement
more info
PubMed 
metal ion binding IEA
Inferred from Electronic Annotation
more info
 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
ATP metabolic process IMP
Inferred from Mutant Phenotype
more info
PubMed 
apoptotic mitochondrial changes IDA
Inferred from Direct Assay
more info
PubMed 
cellular respiration IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
cellular respiration IMP
Inferred from Mutant Phenotype
more info
PubMed 
mitochondrial electron transport, NADH to ubiquinone NAS
Non-traceable Author Statement
more info
PubMed 
mitochondrial respiratory chain complex I assembly TAS
Traceable Author Statement
more info
 
reactive oxygen species metabolic process IMP
Inferred from Mutant Phenotype
more info
PubMed 
regulation of mitochondrial membrane potential IMP
Inferred from Mutant Phenotype
more info
PubMed 
Component Evidence Code Pubs
mitochondrial intermembrane space IDA
Inferred from Direct Assay
more info
PubMed 
mitochondrial matrix 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 
mitochondrial respiratory chain complex I NAS
Non-traceable Author Statement
more info
PubMed 
mitochondrion IDA
Inferred from Direct Assay
more info
 
myelin sheath IEA
Inferred from Electronic Annotation
more info
 
plasma membrane respiratory chain complex I IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 

General protein information

Preferred Names
NADH-ubiquinone oxidoreductase 75 kDa subunit, mitochondrial
Names
NADH dehydrogenase (ubiquinone) Fe-S protein 1, 75kDa (NADH-coenzyme Q reductase)
complex I 75kDa subunit
complex I, mitochondrial respiratory chain, 75-kD subunit
mitochondrial NADH-ubiquinone oxidoreductase 75 kDa subunit
NP_001186910.1
NP_001186911.1
NP_001186912.1
NP_001186913.1
NP_004997.4
XP_016859677.1

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_009248.1 RefSeqGene

    Range
    4945..41385
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001199981.1NP_001186910.1  NADH-ubiquinone oxidoreductase 75 kDa subunit, mitochondrial isoform 2 precursor

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) lacks an alternate in-frame exon compared to variant 1. The resulting isoform (2) has the same N- and C-termini but is shorter compared to isoform 1.
    Source sequence(s)
    AA150435, AK295705, AW074155, BC018900, CA419316, DC413278
    Consensus CDS
    CCDS56164.1
    UniProtKB/Swiss-Prot
    P28331
    Related
    ENSP00000409766.1, OTTHUMP00000206342, ENST00000440274.5, OTTHUMT00000336448
    Conserved Domains (4) summary
    smart00929
    Location:77117
    NADH-G_4Fe-4S_3; NADH-ubiquinone oxidoreductase-G iron-sulfur binding region
    PRK09130
    Location:31687
    PRK09130; NADH dehydrogenase subunit G; Validated
    cd02773
    Location:213594
    MopB_Res-Cmplx1_Nad11; MopB_Res_Cmplx1_Nad11: The second domain of the Nad11/75-kDa subunit of the NADH-quinone oxidoreductase/respiratory complex I/NADH dehydrogenase-1(NDH-1) of eukaryotes and the Nqo3/G subunit of alphaproteobacteria NDH-1. The NADH-quinone oxidoreductase ...
    pfam09326
    Location:642674
    NADH_dhqG_C; NADH-ubiquinone oxidoreductase subunit G, C-terminal
  2. NM_001199982.1NP_001186911.1  NADH-ubiquinone oxidoreductase 75 kDa subunit, mitochondrial isoform 3

    See identical proteins and their annotated locations for NP_001186911.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) lacks an alternate coding segment compared to variant 1, that causes a frameshift. The resulting isoform (3) has a shorter and distinct N-terminus compared to isoform 1.
    Source sequence(s)
    AA150435, AK298320, AW074155, BC018900, CA419316, DC413278
    Consensus CDS
    CCDS56163.1
    UniProtKB/Swiss-Prot
    P28331
    Related
    ENSP00000409689.1, OTTHUMP00000206341, ENST00000432169.5, OTTHUMT00000336447
    Conserved Domains (3) summary
    smart00929
    Location:342
    NADH-G_4Fe-4S_3; NADH-ubiquinone oxidoreductase-G iron-sulfur binding region
    cd02773
    Location:138519
    MopB_Res-Cmplx1_Nad11; MopB_Res_Cmplx1_Nad11: The second domain of the Nad11/75-kDa subunit of the NADH-quinone oxidoreductase/respiratory complex I/NADH dehydrogenase-1(NDH-1) of eukaryotes and the Nqo3/G subunit of alphaproteobacteria NDH-1. The NADH-quinone oxidoreductase ...
    pfam09326
    Location:567599
    NADH_dhqG_C; NADH-ubiquinone oxidoreductase subunit G, C-terminal
  3. NM_001199983.1NP_001186912.1  NADH-ubiquinone oxidoreductase 75 kDa subunit, mitochondrial isoform 4

    See identical proteins and their annotated locations for NP_001186912.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (4) lacks an alternate coding exon compared to variant 1, that causes a frameshift. The resulting isoform (4) is shorter at the N-terminus compared to isoform 1.
    Source sequence(s)
    AA150435, AK300585, AW074155, BC018900, CA419316, DC413278
    Consensus CDS
    CCDS56162.1
    UniProtKB/Swiss-Prot
    P28331
    Related
    ENSP00000397760.1, OTTHUMP00000206344, ENST00000423725.5, OTTHUMT00000336450
    Conserved Domains (5) summary
    smart00929
    Location:5696
    NADH-G_4Fe-4S_3; NADH-ubiquinone oxidoreductase-G iron-sulfur binding region
    PRK09130
    Location:2666
    PRK09130; NADH dehydrogenase subunit G; Validated
    cd02773
    Location:192573
    MopB_Res-Cmplx1_Nad11; MopB_Res_Cmplx1_Nad11: The second domain of the Nad11/75-kDa subunit of the NADH-quinone oxidoreductase/respiratory complex I/NADH dehydrogenase-1(NDH-1) of eukaryotes and the Nqo3/G subunit of alphaproteobacteria NDH-1. The NADH-quinone oxidoreductase ...
    pfam09326
    Location:621653
    NADH_dhqG_C; NADH-ubiquinone oxidoreductase subunit G, C-terminal
    cl00159
    Location:350
    fer2; 2Fe-2S iron-sulfur cluster binding domain. Iron-sulfur proteins play an important role in electron transfer processes and in various enzymatic reactions. The family includes plant and algal ferredoxins, which act as electron carriers in photosynthesis ...
  4. NM_001199984.1NP_001186913.1  NADH-ubiquinone oxidoreductase 75 kDa subunit, mitochondrial isoform 5

    See identical proteins and their annotated locations for NP_001186913.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (5) differs in the 5' UTR and coding sequence compared to variant 1. The resulting isoform (5) has a longer and distinct N-terminus compared to isoform 1.
    Source sequence(s)
    AA150435, AK295987, AW074155, BC018900, CA419316
    Consensus CDS
    CCDS56165.1
    UniProtKB/Swiss-Prot
    P28331
    Related
    ENSP00000392709.2, ENST00000455934.6
    Conserved Domains (5) summary
    smart00929
    Location:127167
    NADH-G_4Fe-4S_3; NADH-ubiquinone oxidoreductase-G iron-sulfur binding region
    PRK09130
    Location:45737
    PRK09130; NADH dehydrogenase subunit G; Validated
    cd02773
    Location:263644
    MopB_Res-Cmplx1_Nad11; MopB_Res_Cmplx1_Nad11: The second domain of the Nad11/75-kDa subunit of the NADH-quinone oxidoreductase/respiratory complex I/NADH dehydrogenase-1(NDH-1) of eukaryotes and the Nqo3/G subunit of alphaproteobacteria NDH-1. The NADH-quinone oxidoreductase ...
    pfam09326
    Location:692724
    NADH_dhqG_C; NADH-ubiquinone oxidoreductase subunit G, C-terminal
    pfam13510
    Location:43121
    Fer2_4; 2Fe-2S iron-sulfur cluster binding domain
  5. NM_005006.6NP_004997.4  NADH-ubiquinone oxidoreductase 75 kDa subunit, mitochondrial isoform 1 precursor

    See identical proteins and their annotated locations for NP_004997.4

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longest and predominant transcript. Variant 1 encodes isoform 1.
    Source sequence(s)
    AA150435, AW074155, BC018900, CA419316, DC413278
    Consensus CDS
    CCDS2366.1
    UniProtKB/Swiss-Prot
    P28331
    UniProtKB/TrEMBL
    E5KRK5
    Related
    ENSP00000233190.5, OTTHUMP00000163806, ENST00000233190.10, OTTHUMT00000256391
    Conserved Domains (5) summary
    smart00929
    Location:113153
    NADH-G_4Fe-4S_3; NADH-ubiquinone oxidoreductase-G iron-sulfur binding region
    PRK09130
    Location:31723
    PRK09130; NADH dehydrogenase subunit G; Validated
    cd02773
    Location:249630
    MopB_Res-Cmplx1_Nad11; MopB_Res_Cmplx1_Nad11: The second domain of the Nad11/75-kDa subunit of the NADH-quinone oxidoreductase/respiratory complex I/NADH dehydrogenase-1(NDH-1) of eukaryotes and the Nqo3/G subunit of alphaproteobacteria NDH-1. The NADH-quinone oxidoreductase ...
    pfam09326
    Location:678710
    NADH_dhqG_C; NADH-ubiquinone oxidoreductase subunit G, C-terminal
    pfam13510
    Location:29107
    Fer2_4; 2Fe-2S iron-sulfur cluster binding domain

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_000002.12 Reference GRCh38.p12 Primary Assembly

    Range
    206123079..206159519 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017004188.2XP_016859677.1  NADH-ubiquinone oxidoreductase 75 kDa subunit, mitochondrial isoform X1

Reference GRCh38.p12 PATCHES

Genomic

  1. NW_015495299.1 Reference GRCh38.p12 PATCHES

    Range
    232097..268537 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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