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Category Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21

GIFtS
-

NDUFS7 Gene

protein-coding GIFtS: 64
GCID: GC19P001384

NADH dehydrogenase (ubiquinone) Fe-S protein 7, 20kDa (NADH-coenzyme...

(Previous name: NADH dehydrogenase (ubiquinone) Fe-S protein 7 (20kD) (NADH-coenzyme...)

Explore 11 diseases affiliated with
NDUFS7 via

MalaCards

our new
Human Malady Compendium

(According to ¹HGNC, ²Entrez Gene,
³UniProtKB/Swiss-Prot, ⁴UniProtKB/TrEMBL, ⁵OMIM, ⁶GeneLoc, ⁷Ensembl, ⁸DME, ⁹miRBase, and/or ¹⁰fRNAdb)
About This Section

Aliases
NADH Dehydrogenase (Ubiquinone) Fe-S Protein 7, 20kDa (NADH-Coenzyme Q Reductase)¹ ²		MY017²
PSST¹ ² ⁵		Complex I 20kDa Subunit²
CI-20¹ ²		Complex I, Mitochondrial Respiratory Chain, 20-KD Subunit²
Complex I-20kD² ³		NADH Dehydrogenase [Ubiquinone] Iron-Sulfur Protein 7, Mitochondrial²
NADH-Ubiquinone Oxidoreductase 20 KDa Subunit² ³		NADH-Coenzyme Q Reductase²
PSST Subunit² ³		NADH:Ubiquinone Oxidoreductase PSST Subunit²
FLJ45860¹		CI-20kD³
FLJ46880¹		EC 1.6.5.3³
NADH Dehydrogenase (Ubiquinone) Fe-S Protein 7 (20kD) (NADH-Coenzyme Q Reductase)¹		EC 1.6.99.3³
CI-20KD²		EC 1.6.99.5⁸

External Ids:	HGNC: 7714¹	Entrez Gene: 374291²	Ensembl: ENSG00000115286⁷	OMIM: 601825⁵	UniProtKB: O75251³

Export aliases for NDUFS7 gene to outside databases

Previous GC identifers: GC19P001441 GC19P001453 GC19P001323 GC19P001334 GC19P001158

(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary for NDUFS7:

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)

UniProtKB/Swiss-Prot: NDUS7_HUMAN, O75251

Function: Core subunit of the mitochondrial membrane respiratory chain NADH dehydrogenase (Complex I) that is believed

to belong to the minimal assembly required for catalysis. Complex I functions in the transfer of electrons from NADH

to the respiratory chain. The immediate electron acceptor for the enzyme is believed to be ubiquinone (By similarity)

Gene Wiki entry for NDUFS7

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section

RefSeq DNA sequence:

NC_000019.9 NC_018930.1 NT_011255.14

Regulatory elements:

SABiosciences Regulatory transcription factor binding sites in the NDUFS7 gene promoter:
SRF GCNF SRF (504 AA) STAT5A Evi-1 RORalpha1 COMP1 GCNF-1 c-Myb GCNF-2
Other transcription factors

SwitchGear Promoter luciferase reporter plasmid: NDUFS7 promoter sequence

Search SABiosciences Chromatin IP Primers for NDUFS7

Epigenetics:

QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat NDUFS7

Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 19p13.3 Ensembl cytogenetic band: 19p13.3 HGNC cytogenetic band: 19p13

NDUFS7 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
NDUFS7 gene location

GeneLoc information about chromosome 19 GeneLoc Exon Structure

GeneLoc location for GC19P001384: view genomic region (about GC identifiers)

Start:	1,383,526 bp from pter	End:	1,395,588 bp from pter
Size:	12,063 bases	Orientation:	plus strand

(According to ¹UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to ²PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section

UniProtKB/Swiss-Prot: NDUS7_HUMAN, O75251 (See protein sequence)

Recommended Name: NADH dehydrogenase [ubiquinone] iron-sulfur protein 7, mitochondrial precursor

Size: 213 amino acids; 23564 Da

Cofactor: Binds 1 4Fe-4S cluster (Potential)

Subunit: Complex I is composed of 45 different subunits This is a component of the iron-sulfur (IP) fragment of the

enzyme

Subcellular location: Mitochondrion

Sequence caution: Sequence=AAC27669.1; Type=Erroneous gene model prediction;

Secondary accessions: Q2T9H7 Q9BV17

Explore the universe of human proteins at neXtProt for NDUFS7: NX_O75251

Post-translational modifications:

View modification sites using PhosphoSitePlus²

View neXtProt modification sites for NX_O75251

4/6 DME Specific Peptides for NDUFS7 (O75251) (see all 6)

FRASPRQ

YGILQLQ

RASPRQSD

RYDMDRFG

NDUFS7 Protein expression data from MOPED and PaxDb: About this image

REFSEQ proteins: NP_077718.3

ENSEMBL proteins:

ENSP00000440348 ENSP00000233627 ENSP00000443273 ENSP00000442822 ENSP00000467094

ENSP00000406630 ENSP00000364262

Reactome Protein details: O75251
Human Recombinant Protein Products:

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	Uscn Proteins for NDUFS7

Gene Ontology (GO): 5/6 cellular component terms (GO ID links to tree view) (see all 6): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005739	mitochondrion	--	--
GO:0005743	mitochondrial inner membrane	TAS	--
GO:0005747	mitochondrial respiratory chain complex I	NAS	9878551
GO:0043005	neuron projection	IEA	--
GO:0043025	neuronal cell body	IEA	--

NDUFS7 for ontologies About GeneDecksing

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	Uscn ELISAs and CLIAs for NDUFS7

(According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
About This Section

NDUFS7 for domains About GeneDecksing

3 InterPro domains/families:

IPR006137 NADH_UbQ_OxRdtase-like_20kDa

IPR014406 NiFe-hyd_3_ssu/Q_oxred_NuoB

IPR006138 NADH_UQ_OxRdtase_20Kd_su

Graphical View of Domain Structure for InterPro Entry O75251

ProtoNet protein and cluster: O75251

1 Blocks protein family: IPB006138 NADH dehydrogenase (ubiquinone)

UniProtKB/Swiss-Prot: NDUS7_HUMAN, O75251

Similarity: Belongs to the complex I 20 kDa subunit family

(According to ¹UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or ²DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
bound targets from SABiosciences, miRNA Gene Targets from miRTarBase shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
About This Section

Function Summary:

UniProtKB/Swiss-Prot: NDUS7_HUMAN, O75251

Function: Core subunit of the mitochondrial membrane respiratory chain NADH dehydrogenase (Complex I) that is believed

to belong to the minimal assembly required for catalysis. Complex I functions in the transfer of electrons from NADH

to the respiratory chain. The immediate electron acceptor for the enzyme is believed to be ubiquinone (By similarity)

Catalytic activity: NADH + ubiquinone = NAD(+) + ubiquinol

Catalytic activity: NADH + acceptor = NAD(+) + reduced acceptor

Genatlas biochemistry entry for NDUFS7:

NADH ubiquinone dehydrogenase (Q reductase),20kDa,component of the complex I multi-subunit enzyme of the oxidative

phosphorylation (OXPHOS),iron-sulfur protein 7,inner mitochondrial membrane

Enzyme Numbers (IUBMB): EC 1.6.99.3¹ EC 1.6.99.5² EC 1.6.5.3¹

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In Situ Assay
Products:

Search Advanced Cell Diagnostics for RNAscope RNA in situ hybridization assays for NDUFS7

Gene Ontology (GO): 5/8 molecular function terms (GO ID links to tree view) (see all 8): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0002020	protease binding	IEA	--
GO:0003954	contributes to NADH dehydrogenase activity	IMP	14749350
GO:0005515	protein binding	IPI	15186778
GO:0008137	NADH dehydrogenase (ubiquinone) activity	NAS	9878551
GO:0016655	oxidoreductase activity, acting on NAD(P)H, quinone or similar compound as acceptor	NAS	8938450

NDUFS7 for ontologies About GeneDecksing

(Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to ¹UniProtKB, ²MINT, ³I2D, and/or ⁴STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene).
About This Section

Unified GeneCards pathways About this table

See pathways by source

Super-pathway

contained gene-specific pathways

Respiratory electron transport, ATP synthesis by chemiosmotic coupling, and heat production by uncoupling proteins.

8/9 pathways (see all 9)
Respiratory electron transport, ATP synthesis by chemiosmotic coupling, and heat production by uncoupling proteins.	1.00	Parkinson's disease	0.61
Respiratory electron transport	0.81	Oxidative phosphorylation	0.52
Electron Transport Chain	0.76	Alzheimer's disease	0.43
The citric acid (TCA) cycle and respiratory electron transport	0.72	Huntington's disease	0.40

Metabolism

Metabolism

1.00

Metabolic pathways

0.38

Doxorubicin Pathway, Pharmacokinetics

Doxorubicin Pathway, Pharmacokinetics

1.00

Pathway sources
See GeneCards unified pathways
Show all pathways

2 BioSystems Pathways for NDUFS7

	Electron Transport Chain
	Oxidative phosphorylation

4 Reactome Pathways for NDUFS7

	Respiratory electron transport
	Metabolism
	Respiratory electron transport, ATP synthesis by chemiosmotic coupling, and heat production by uncoupling proteins.
	The citric acid (TCA) cycle and respiratory electron transport

1 PharmGKB Pathway for NDUFS7

Doxorubicin Pathway, Pharmacokinetics

5 Kegg Pathways (Kegg details for NDUFS7):

	Oxidative phosphorylation
	Metabolic pathways
	Alzheimer's disease
	Parkinson's disease
	Huntington's disease

NDUFS7 for pathways About GeneDecksing

Interactions:

Search SABiosciences Gene Network Central^TM Interacting Genes and Proteins Networks for NDUFS7

STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

5/65 Interacting proteins for NDUFS7 (O75251^{2, 3} ENSP00000233627⁴) via UniProtKB, MINT, STRING, and/or I2D (see all 65)

Interactant		Interaction Details
GeneCard	External ID(s)	Interaction Details
NDUFA2	O43678³, ENSP00000252102⁴	I2D: score=1 STRING: ENSP00000252102
NDUFS5	O43920², ENSP00000362058⁴	MINT-4981243 STRING: ENSP00000362058
NDUFS3	O75489², ENSP00000263774⁴	MINT-4981243 STRING: ENSP00000263774
NDUFA9	Q16795², ENSP00000266544⁴	MINT-4981243 STRING: ENSP00000266544
ARRB2	P32121³, ENSP00000269260⁴	I2D: score=3 STRING: ENSP00000269260

About this table

Gene Ontology (GO): 4 biological process terms (GO ID links to tree view): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0006120	mitochondrial electron transport, NADH to ubiquinone	NAS	9878551
GO:0022904	respiratory electron transport chain	TAS	--
GO:0032981	mitochondrial respiratory chain complex I assembly	IMP	11112787
GO:0044281	small molecule metabolic process	TAS	--

NDUFS7 for ontologies About GeneDecksing

(Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
About This Section

Browse Small Molecules at EMD Millipore

Browse drugs & compounds from Enzo Life Sciences

Browse Tocris compounds for NDUFS7

9 HMDB Compounds for NDUFS7 About this table

Compound	Synonyms	CAS #	PubMed Ids
FAD	1H-Purin-6-amine flavin dinucleotide (see all 21)	146-14-5	--
Iron	Armco iron (see all 19)	7439-89-6	--
NAD	3-Carbamoyl-1-D-ribofuranosylpyridinium hydroxide 5'-ester with adenosine 5'-pyrophosphate (see all 28)	53-84-9	--
NADH	1,4-Dihydronicotinamide adenine dinucleotide (see all 17)	58-68-4	--
QH2	CoQH2 (see all 5)	56275-39-9	--
Sulfide	Sulfide (see all 4)	18496-25-8	--
Ubiquinol 8	ubiquinol-8 (see all 2)	56275-39-9	--
Ubiquinone Q1	Coenzyme Q (see all 9)	727-81-1	--
Ubiquinone Q2	2-(3,7-dimethyl-2,6-octadienyl)-5,6-dimethoxy-3-methyl-2,5-Cyclohexadiene-1,4-dione (see all 7)	606-06-4	--

1 DrugBank Compound for NDUFS7 About this table

Compound	Synonyms	CAS #	Type	Actions	PubMed Ids
NADH	beta-DPNH (see all 18)	606-68-8	target	--	10097178 8369340 17139284 17016423 8938450

Search CenterWatch for drugs/clinical trials and news about NDUFS7 / NDUS7

(Secondary structures according to fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 235 Homo sapiens; Mar 10 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
RNAi Products from EMD Millipore,
siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
About This Section

REFSEQ mRNAs for NDUFS7 gene:

NM_024407.4

Unigene Cluster for NDUFS7:

NADH dehydrogenase (ubiquinone) Fe-S protein 7, 20kDa (NADH-coenzyme Q reductase)

Hs.211914 [show with all ESTs]

Unigene Representative Sequence: AK126693

17 Ensembl transcripts including schematic representations, and UCSC links where relevant:

ENST00000546283 ENST00000233627(uc002lse.4) ENST00000545446(uc002lsf.2 uc002lsh.3 uc002lsg.2)

ENST00000543289 ENST00000538662 ENST00000539480 ENST00000436115 ENST00000534853

ENST00000546172 ENST00000414651 ENST00000538929 ENST00000538523 ENST00000540530

ENST00000535382 ENST00000539882 ENST00000591358 ENST00000313408

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Additional cDNA sequence:

AF060512.1 AF115969.1 AK126693.1 AK222738.1 AK289671.1 AK293917.1 AK297611.1 BC001715.3

BC005954.1 BC111517.1

22 DOTS entries:

DT.431325 DT.100771857 DT.100843991 DT.91990051 DT.100028319 DT.100028321 DT.100771858 DT.101977992

DT.121495060 DT.121495091 DT.97846053 DT.40130128 DT.121495115 DT.95334843 DT.100028320 DT.121495027

DT.121495087 DT.95345908 DT.95334816 DT.95334836 DT.91880317 DT.99935520

24/182 AceView cDNA sequences (see all 182):

AK092169 BC001715 AK091046 AX746748 CR606524 AW245467 BM272658 BQ958676

BM797486 AX747100 AX747389 AA315377 BU844989 CB110188 AK128713 AI015529

CR615407 BU845781 AK056061 AK127759 AK091623 AJ572667 BQ640199 BM835183

GeneLoc Exon Structure

5/12 Alternative Splicing Database (ASD) splice patterns (SP) for NDUFS7 (see all 12) About this scheme

ExUns:	1a	·	1b	·	1c	^	2	^	3	^	4a	·	4b	^	5a	·	5b	·	5c	^	6a	·	6b	·	6c	^	7	^	8	^	9a	·	9b	^	10a	·	10b	^	11
SP1:							-				-		-						-						-								-		-
SP2:							-				-		-						-						-								-		-		-
SP3:							-				-		-						-						-
SP4:											-		-						-						-								-
SP5:							-				-		-				-		-		-				-

ECgene alternative splicing isoforms for NDUFS7

(RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
About This Section

NDUFS7 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: GGGAGCTGCG

About this image

NDUFS7 expression in embryonic tissues and stem cells

Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine About this table

1 LifeMap In Vivo Development Anatomical Compartment/Cell

Tissue

Anatomical Compartment

Cell

Category (developmental path)

Ovary

Primary Follicle

Primary Oocyte

Female Gametocytes, Germ Cells

Expression:

Positive

Negative

Selective marker

Experimental details:

Curated

Microarrays

In-situ hybridization

See NDUFS7 Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for NDUFS7

SOURCE GeneReport for Unigene cluster: Hs.211914

SABiosciences Expression via Pathway-Focused PCR Array including NDUFS7:

Mitochondrial Energy Metabolism in human mouse rat

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In Situ
Assay Products:

Search Advanced Cell Diagnostics for RNAscope RNA in situ hybridization assays for NDUFS7

(Orthologs according to ^1,2HomoloGene (²older version, for species not in ¹newer version), ³euGenes, ⁴SGD , ⁵MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or ⁶Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
About This Section

This gene was present in the last universal common ancestor (LUCA).

Orthologs for NDUFS7 gene from 9/36 species (see all 36) About this table

Organism	Taxonomic classification	Gene	Description	Human Similarity	Orthology Type	Details
mouse (Mus musculus)	Mammalia	Ndufs7^{1 , 5}	NADH dehydrogenase (ubiquinone) Fe-S protein 7^{1, 5}	82.22(n)¹ 88.1(a)¹		10 (39.72 cM)⁵ 75406¹ NM_029272.3¹ NP_083548.1¹ 80249121⁵
chicken (Gallus gallus)	Aves	NDUFS7¹	NADH dehydrogenase (ubiquinone) Fe-S protein 7, 20kDa more	80.07(n) 86.96(a)		770724 XM_001234053.2 XP_001234054.2
African clawed frog (Xenopus laevis)	Amphibia	Xl.13717²	Xenopus laevis transcribed sequence with moderate similarity more	76.72(n)		BJ084184.1
zebrafish (Danio rerio)	Actinopterygii	wufj19d10²	Danio rerio cDNA clone IMAGE6792046, containing frame-shift more	78.47(n)		BC056291.1
fruit fly (Drosophila melanogaster)	Insecta	CG2014³ CG9172¹	NADH dehydrogenase (ubiquinone)³ CG9172¹	83(a) (best of 2)³ 73.17(n)¹ 81.13(a)¹		99B2³ 32565¹ NM_132869.3¹ NP_573097.1¹
worm (Caenorhabditis elegans)	Secernentea	W10D5.2³ nduf-7¹	NADH-ubiquinone oxidoreductase 20 KD subunit³ Protein NDUF-7¹	68(a)³ 61.11(n)¹ 69.89(a)¹		I(9116497-9118666)³ 172734¹ NM_060044.3¹ NP_492445.1¹
thale cress (Arabidopsis thaliana)	eudicotyledons	AT5G11770¹	NADH dehydrogenase (ubiquinone) Fe-S protein 7	65.56(n) 71.82(a)		831049 NM_121215.3 NP_196738.1
rice (Oryza sativa)	Liliopsida	Os.41838²	Oryza sativa (japonica cultivar-group) putative NADH more	77.85(n)		NM_191797.1
E. coli (Escherichia coli)	Gamma proteobacteria	nuoB⁶ hycG⁶ (see all 3)	NADH:ubiquinone oxidoreductase, chain B hydrogenase 3 and formate hydrogenase complex, Hyc... (see all 3)	36(a) 21(a) (see all 3)	1 ↔ 1 possible ortholog (see all 3)	Chromosome(2401973-2402635) Chromosome(2841465-2842232)

ENSEMBL Gene Tree for NDUFS7 (if available)
TreeFam Gene Tree for NDUFS7 (if available)

(Paralogs according to ¹HomoloGene,
²Ensembl, and ³SIMAP, Pseudogenes according to ⁴Pseudogene.org Build 68)
About This Section

(SNPs/Variants according to the ¹NCBI SNP Database, ²Ensembl, ³PupaSUITE, UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
About This Section

SNP ID	Valid	Clinical significance	Chr 19 pos	Sequence	#	AA Chg	Type	More	#	Allele freq	Pop	Total sample	More
Genomic Data					Transcription Related Data				Allele Frequencies
				--	--	--		--	--
rs104894705^1,2	C	pathogenic	1165860(+)	`TGATCA/GTGGCC`	2	M V	mis¹		0	--	--	--	--
rs79207884^1,2		--	1156773(+)	`AACTCT/CAAATT`	1	--	us2k¹		2		CSA WA	119
rs111792367^1,2		--	1156865(+)	`AGGCCA/GAGGTG`	1	--	us2k¹		1		CSA	1
rs201745113^1,2	C	--	1157099(-)	`TATTTA/TTTTTT`	1	--	us2k¹		0	--	--	--	--
rs74954190^1,2	C,	--	1157460(+)	`TGGTCC/TTCAAG`	1	--	us2k¹		1		WA	2
rs116484749^1,2	C,F,	--	1157483(+)	`TTGCTA/GGTCAC`	1	--	us2k¹		1		WA	118
rs62127620^1,2		--	1158100(+)	`CATCGC/TGGCGA`	1	--	us2k¹		0	--	--	--	--
rs3848637^1,2	C,A,	--	1158347(+)	`GCGCAG/CGCGCA`	1	--	us2k¹		4		NA CSA WA	241
rs11668291^1,2	C,F,H,	--	1159102(+)	`CACGGC/TCCGCG`	1	--	int¹		8		NS EA NA	986
rs72983535^1,2	C,F,	--	1159268(+)	`CCACCC/TCTGGG`	1	--	int¹		1		NA	120

HapMap Linkage Disequilibrium report for NDUFS7 (1383526 - 1395588 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV): 3 variations for NDUFS7
3 CNVs: 7191 4066 5066
Human Gene Mutation Database (HGMD): NDUFS7

SABiosciences Cancer Mutation PCR Assays

QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing NDUFS7

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(in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
About This Section

NDUFS7 for disorders           About GeneDecksing

OMIM gene information: 601825
OMIM disorders: 256000
UniProtKB/Swiss-Prot: NDUS7_HUMAN, O75251

Defects in NDUFS7 are a cause of Leigh syndrome (LS) [MIM:256000]. LS is a severe neurological disorder

characterized by bilaterally symmetrical necrotic lesions in subcortical brain regions

Defects in NDUFS7 are a cause of mitochondrial complex I deficiency (MT-C1D) [MIM:252010]. A disorder of the

mitochondrial respiratory chain that causes a wide range of clinical disorders, from lethal neonatal disease to

adult-onset neurodegenerative disorders. Phenotypes include macrocephaly with progressive leukodystrophy, non-specific

encephalopathy, cardiomyopathy, myopathy, liver disease, Leigh syndrome, Leber hereditary optic neuropathy, and some

forms of Parkinson disease

11 diseases for NDUFS7: About MalaCards

mitochondrial complex i deficiency leigh syndrome due to mitochondrial complex i deficiency leber hereditary optic neuropathy decubitus ulcer

leigh disease leukodystrophy huntington's disease neuropathy

parkinson's disease tuberculosis mycobacterium tuberculosis

1 disease from the University of Copenhagen DISEASES database for NDUFS7:

Leigh disease

Human Genome Epidemiology (HuGE) Navigator: NDUFS7 (3 documents)

Export disorders for NDUFS7 gene to outside databases

(in PubMed. Associations of this gene to articles via ¹Entrez Gene, ²UniProtKB/Swiss-Prot, ³HGNC, ⁴GAD, ⁵PharmGKB, ⁶HMDB, ⁷DrugBank, ⁸UniProtKB/TrEMBL, ⁹ Novoseek, and/or ¹⁰fRNAdb)
About This Section

PubMed articles for NDUFS7 gene, integrated from 9 sources (see all 34):
(articles sorted by number of sources associating them with NDUFS7)

Utopia: connect your pdf to the dynamic
world of online information

Assignment of the PSST subunit gene of human mitochondrial complex I to chromosome 19p13. (PubMed id 8938450)^{1, 2, 3, 7, 9} Hyslop S.J.... Robinson B.H. (1996)
The subunit composition of the human NADH dehydrogenase obtained by rapid one-step immunopurification. (PubMed id 12611891)^{1, 2} Murray J.... Capaldi R.A. (2003)
Leigh syndrome associated with a mutation in the NDUFS7 (PSST) nuclear encoded subunit of complex I. (PubMed id 10360771)^{1, 2} Triepels R.H.... Smeitink J.A.M. (1999)
Human mitochondrial complex I in health and disease. (PubMed id 10330338)^{1, 2} Smeitink J. and van den Heuvel L. (1999)
Mitigation of NADH: ubiquinone oxidoreductase deficiency by chronic Trolox treatment. (PubMed id 18435906)^{1, 9} Koopman W.J....Willems P.H. (2008)
A census of human soluble protein complexes. (PubMed id 22939629)¹ Havugimana P.C....Emili A. (2012)
Initial characterization of the human central proteome. (PubMed id 21269460)² Burkard T.R.... Colinge J. (2011)
Systematic and quantitative assessment of the ubiquiti n-modified proteome. (PubMed id 21906983)¹ Kim W....Gygi S.P. (2011)
Genetic variants in nuclear-encoded mitochondrial gen es influence AIDS progression. (PubMed id 20877624)¹ Hendrickson S.L....O'Brien S.J. (2010)
Oxidative stress, telomere length and biomarkers of physical aging in a cohort aged 79 years from the 1932 Scottish Mental Survey. (PubMed id 18977241)¹ Starr J.M....Deary I.J. (2008)

(in PubMed, OMIM, and NCBI Bookshelf)
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		AND	OR
Aliases
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Query String		PubMed OMIM NCBI Bookshelf
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(According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
About This Section

Entrez Gene: 374291	HGNC: 7714	AceView: NDUFS7	Ensembl:ENSG00000115286	euGenes: HUgn374291
ECgene: NDUFS7	Kegg: 374291	H-InvDB: NDUFS7

(According to HUGE)
About This Section

(According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
About This Section

Name	Description
PharmGKB entry for NDUFS7	Pharmacogenomics, SNPs, Pathways
GeneReviews	http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/NDUFS7

Intellectual Property for NDUFS7 gene
(Patent information from GeneIP, Licensable technologies from WIS Yeda, Salk, Tufts, IP news from LifeMap Sciences, Inc.)

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Patent Information for NDUFS7 gene:
Search GeneIP for patents involving NDUFS7

GeneCards and IP:
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NADH dehydrogenase (ubiquinone) Fe-S protein 7, 20kDa (NADH-coenzyme...

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NDUFS7 (Gene Symbol)
NADH Dehydrogenase (Ubiquinone) Fe-S Protein 7, 20kDa (NADH-Coenzyme Q Reductase)
PSST
CI-20
Complex I-20kD
NADH-Ubiquinone Oxidoreductase 20 KDa Subunit
PSST Subunit
FLJ45860
FLJ46880
NADH Dehydrogenase (Ubiquinone) Fe-S Protein 7 (20kD) (NADH-Coenzyme Q Reductase)
CI-20KD
MY017
Complex I 20kDa Subunit
Complex I, Mitochondrial Respiratory Chain, 20-KD Subunit
NADH Dehydrogenase [Ubiquinone] Iron-Sulfur Protein 7, Mitochondrial
NADH-Coenzyme Q Reductase
NADH:Ubiquinone Oxidoreductase PSST Subunit
CI-20kD
EC 1.6.5.3
EC 1.6.99.3
EC 1.6.99.5

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NDUFS7 Gene

NADH dehydrogenase (ubiquinone) Fe-S protein 7, 20kDa (NADH-coenzyme...

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