Human Gene NDUFS7 (ENST00000233627.14_3) from GENCODE V45lift37
  Description: Homo sapiens NADH:ubiquinone oxidoreductase core subunit S7 (NDUFS7), transcript variant 1, mRNA; nuclear gene for mitochondrial product. (from RefSeq NM_024407)
RefSeq Summary (NM_024407): This gene encodes a protein that is a subunit of one of the complexes that forms the mitochondrial respiratory chain. This protein is one of over 40 subunits found in complex I, the nicotinamide adenine dinucleotide (NADH):ubiquinone oxidoreductase. This complex functions in the transfer of electrons from NADH to the respiratory chain, and ubiquinone is believed to be the immediate electron acceptor for the enzyme. Mutations in this gene cause Leigh syndrome due to mitochondrial complex I deficiency, a severe neurological disorder that results in bilaterally symmetrical necrotic lesions in subcortical brain regions. [provided by RefSeq, Jul 2008].
Gencode Transcript: ENST00000233627.14_3
Gencode Gene: ENSG00000115286.21_8
Transcript (Including UTRs)
   Position: hg19 chr19:1,383,906-1,395,583 Size: 11,678 Total Exon Count: 8 Strand: +
Coding Region
   Position: hg19 chr19:1,383,926-1,395,487 Size: 11,562 Coding Exon Count: 8 

Page IndexSequence and LinksUniProtKB CommentsPrimersMalaCardsCTD
Gene AllelesRNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureGO Annotations
mRNA DescriptionsPathwaysOther NamesGeneReviewsMethods
Data last updated at UCSC: 2024-04-24 11:59:55

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr19:1,383,906-1,395,583)mRNA (may differ from genome)Protein (213 aa)
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-  Comments and Description Text from UniProtKB
  ID: Q7LD69_HUMAN
DESCRIPTION: RecName: Full=NADH dehydrogenase [ubiquinone] iron-sulfur protein 7, mitochondrial ; EC=7.1.1.2 ; AltName: Full=Complex I-20kD ; AltName: Full=NADH-ubiquinone oxidoreductase 20 kDa subunit ;
CATALYTIC ACTIVITY: Reaction=a ubiquinone + 5 H(+)(in) + NADH = a ubiquinol + 4 H(+)(out) + NAD(+); Xref=Rhea:RHEA:29091, Rhea:RHEA-COMP:9565, Rhea:RHEA- COMP:9566, ChEBI:CHEBI:15378, ChEBI:CHEBI:16389, ChEBI:CHEBI:17976, ChEBI:CHEBI:57540, ChEBI:CHEBI:57945; EC=7.1.1.2; Evidence=;
SUBCELLULAR LOCATION: Mitochondrion inner membrane ; Peripheral membrane protein ; Matrix side
SIMILARITY: Belongs to the complex I 20 kDa subunit family.

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  MalaCards Disease Associations
  MalaCards Gene Search: NDUFS7
Diseases sorted by gene-association score: leigh syndrome* (369), leigh syndrome with leukodystrophy* (202), mitochondrial complex i deficiency* (63), adjustment disorder (6), chilblain lupus (5)
* = Manually curated disease association

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

+  Common Gene Haplotype Alleles
  Press "+" in the title bar above to open this section.

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 53.18 RPKM in Brain - Cerebellum
Total median expression: 1224.84 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -4.7020-0.235 Picture PostScript Text
3' UTR -23.6096-0.246 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR006137 - NADH_UbQ_OxRdtase-like_20kDa
IPR006138 - NADH_UQ_OxRdtase_20Kd_su

Pfam Domains:
PF01058 - NADH ubiquinone oxidoreductase, 20 Kd subunit

ModBase Predicted Comparative 3D Structure on Q7LD69
FrontTopSide
The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0002020 protease binding
GO:0008137 NADH dehydrogenase (ubiquinone) activity
GO:0046872 metal ion binding
GO:0048038 quinone binding
GO:0051536 iron-sulfur cluster binding
GO:0051539 4 iron, 4 sulfur cluster binding

Biological Process:
GO:0055114 oxidation-reduction process

Cellular Component:
GO:0043005 neuron projection
GO:0043025 neuronal cell body
GO:0097060 synaptic membrane


-  Descriptions from all associated GenBank mRNAs
  AK289671 - Homo sapiens cDNA FLJ78321 complete cds.
AK092169 - Homo sapiens cDNA FLJ34850 fis, clone NT2NE2011758, highly similar to NADH-UBIQUINONE OXIDOREDUCTASE 20 KDA SUBUNIT PRECURSOR (EC 1.6.5.3).
AX747389 - Sequence 914 from Patent EP1308459.
LF384662 - JP 2014500723-A/192165: Polycomb-Associated Non-Coding RNAs.
AK128713 - Homo sapiens cDNA FLJ46880 fis, clone UTERU3015299, highly similar to NADH-ubiquinone oxidoreductase 20 kDa subunit, mitochondrial precursor (EC 1.6.5.3).
AK297611 - Homo sapiens cDNA FLJ58024 complete cds, highly similar to NADH-ubiquinone oxidoreductase 20 kDa subunit, mitochondrial precursor (EC 1.6.5.3).
AK293917 - Homo sapiens cDNA FLJ60457 complete cds, highly similar to NADH-ubiquinone oxidoreductase 20 kDa subunit, mitochondrial precursor (EC 1.6.5.3).
AF115969 - Homo sapiens NADH:ubiquinone oxidoreductase PSST subunit mRNA, complete cds.
AK091623 - Homo sapiens cDNA FLJ34304 fis, clone FEBRA2007880, highly similar to NADH-ubiquinone oxidoreductase 20 kDa subunit, mitochondrial precursor (EC 1.6.5.3).
AX747100 - Sequence 625 from Patent EP1308459.
AK127759 - Homo sapiens cDNA FLJ45860 fis, clone OCBBF2036019, moderately similar to NADH-ubiquinone oxidoreductase 20 kDa subunit, mitochondrial precursor (EC 1.6.5.3).
BC005954 - Homo sapiens NADH dehydrogenase (ubiquinone) Fe-S protein 7, 20kDa (NADH-coenzyme Q reductase), mRNA (cDNA clone MGC:14592 IMAGE:4276489), complete cds.
AK222738 - Homo sapiens mRNA for NADH-ubiquinone oxidoreductase Fe-S protein 7 variant, clone: DMC01564.
AF060512 - Homo sapiens clone 016d03 My017 protein mRNA, complete cds.
BC021073 - Homo sapiens cDNA clone IMAGE:3010311, **** WARNING: chimeric clone ****.
BC111517 - Homo sapiens NADH dehydrogenase (ubiquinone) Fe-S protein 7, 20kDa (NADH-coenzyme Q reductase), mRNA (cDNA clone MGC:120002 IMAGE:40017044), complete cds.
JF432732 - Synthetic construct Homo sapiens clone IMAGE:100073975 NADH dehydrogenase (ubiquinone) Fe-S protein 7, 20kDa (NADH-coenzyme Q reductase) (NDUFS7) gene, encodes complete protein.
KJ900670 - Synthetic construct Homo sapiens clone ccsbBroadEn_10064 NDUFS7 gene, encodes complete protein.
KR710224 - Synthetic construct Homo sapiens clone CCSBHm_00010419 NDUFS7 (NDUFS7) mRNA, encodes complete protein.
KR710225 - Synthetic construct Homo sapiens clone CCSBHm_00010420 NDUFS7 (NDUFS7) mRNA, encodes complete protein.
BC001715 - Homo sapiens NADH dehydrogenase (ubiquinone) Fe-S protein 7, 20kDa (NADH-coenzyme Q reductase), mRNA (cDNA clone IMAGE:3503064), partial cds.
AK091024 - Homo sapiens cDNA FLJ33705 fis, clone BRAWH2006301, weakly similar to SPLICEOSOME ASSOCIATED PROTEIN 49.
AX746737 - Sequence 262 from Patent EP1308459.
LF323101 - JP 2014500723-A/130604: Polycomb-Associated Non-Coding RNAs.
AK091046 - Homo sapiens cDNA FLJ33727 fis, clone BRAWH2017433, weakly similar to SPLICEOSOME ASSOCIATED PROTEIN 49.
AX746748 - Sequence 273 from Patent EP1308459.
LF323104 - JP 2014500723-A/130607: Polycomb-Associated Non-Coding RNAs.
AK056061 - Homo sapiens cDNA FLJ31499 fis, clone NT2NE2005441, weakly similar to SPLICEOSOME ASSOCIATED PROTEIN 49.
LF323106 - JP 2014500723-A/130609: Polycomb-Associated Non-Coding RNAs.
JD117411 - Sequence 98435 from Patent EP1572962.
JD458548 - Sequence 439572 from Patent EP1572962.
JD037057 - Sequence 18081 from Patent EP1572962.
MA620239 - JP 2018138019-A/192165: Polycomb-Associated Non-Coding RNAs.
MA558678 - JP 2018138019-A/130604: Polycomb-Associated Non-Coding RNAs.
MA558681 - JP 2018138019-A/130607: Polycomb-Associated Non-Coding RNAs.
MA558683 - JP 2018138019-A/130609: Polycomb-Associated Non-Coding RNAs.

-  Biochemical and Signaling Pathways
  BioCyc Knowledge Library
PWY-3781 - aerobic respiration I (cytochrome c)

-  Other Names for This Gene
  Alternate Gene Symbols: ENST00000233627.1, ENST00000233627.10, ENST00000233627.11, ENST00000233627.12, ENST00000233627.13, ENST00000233627.2, ENST00000233627.3, ENST00000233627.4, ENST00000233627.5, ENST00000233627.6, ENST00000233627.7, ENST00000233627.8, ENST00000233627.9, NM_024407, Q7LD69, Q7LD69_HUMAN, uc317dxm.1
UCSC ID: ENST00000233627.14_3
RefSeq Accession: NM_024407
Protein: Q7LD69

-  GeneReviews for This Gene
  GeneReviews article(s) related to gene NDUFS7:
leigh-nucl-ov (Nuclear Gene-Encoded Leigh Syndrome Spectrum Overview)

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.