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Category Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21

GIFtS
-

NDUFV1 Gene

protein-coding GIFtS: 66
GCID: GC11P067374

NADH dehydrogenase (ubiquinone) flavoprotein 1, 51kDa

(Previous name: NADH dehydrogenase (ubiquinone) flavoprotein 1 (51kD) )

Explore 20 diseases affiliated with
NDUFV1 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) Flavoprotein 1, 51kDa¹ ²		Mitochondrial NADH Dehydrogenase Ubiquinone Flavoprotein 1²
UQOR1² ³ ⁵		Mitochondrial NADH:Ubiquinone Oxidoreductase 51 Kda Subunit²
CI-51K¹ ²		NADH Dehydrogenase [Ubiquinone] Flavoprotein 1, Mitochondrial²
NADH-Ubiquinone Oxidoreductase 51 KDa Subunit² ³		CI-51kD³
NADH Dehydrogenase (Ubiquinone) Flavoprotein 1 (51kD)¹		EC 1.6.5.3³
CI51KD²		EC 1.6.99.3³
Complex I 51 Kda Subunit²		Complex I-51kD³
Complex I 51kDa Subunit²		NADH Dehydrogenase Flavoprotein 1³
Complex I, Mitochondrial Respiratory Chain²		EC 1.6.99.5⁸

External Ids:	HGNC: 7716¹	Entrez Gene: 4723²	Ensembl: ENSG00000167792⁷	OMIM: 161015⁵	UniProtKB: P49821³

Export aliases for NDUFV1 gene to outside databases

Previous GC identifers: GC11P069897 GC11P069070 GC11P067624 GC11P067149 GC11P067130 GC11P063703

(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 NDUFV1:

The mitochondrial respiratory chain provides energy to cells via oxidative phosphorylation and consists of four

membrane-bound electron-transporting protein complexes (I-IV) and an ATP synthase (complex V). This gene encodes a 51

kDa subunit of the NADH:ubiquinone oxidoreductase complex I; a large complex with at least 45 nuclear and

mitochondrial encoded subunits that liberates electrons from NADH and channels them to ubiquinone. This subunit

carries the NADH-binding site as well as flavin mononucleotide (FMN)- and Fe-S-biding sites. Defects in complex I are

a common cause of mitochondrial dysfunction; a syndrome that occurs in approximately 1 in 10,000 live births.

Mitochondrial complex I deficiency is linked to myopathies, encephalomyopathies, and neurodegenerative disorders such

as Parkinson's disease and Leigh syndrome. Alternative splicing results in multiple transcript variants encoding

distinct isoforms.(provided by RefSeq, Oct 2009)

UniProtKB/Swiss-Prot: NDUV1_HUMAN, P49821

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 NDUFV1

(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_000011.9 NC_018922.1 NT_167190.1

Regulatory elements:

SABiosciences Regulatory transcription factor binding sites in the NDUFV1 gene promoter:
Pax-5 Pbx1a Pax-6 MyoD LUN-1 Nkx2-5 GATA-2 HOXA5 Zic3 Pax-4a
Other transcription factors

SwitchGear Promoter luciferase reporter plasmid: NDUFV1 promoter sequence

Search SABiosciences Chromatin IP Primers for NDUFV1

Epigenetics:

QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat NDUFV1

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

Entrez Gene cytogenetic band: 11q13 Ensembl cytogenetic band: 11q13.2 HGNC cytogenetic band: 11q13

NDUFV1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
NDUFV1 gene location

GeneLoc information about chromosome 11 GeneLoc Exon Structure

GeneLoc location for GC11P067374: view genomic region (about GC identifiers)

Start:	67,374,323 bp from pter	End:	67,380,012 bp from pter
Size:	5,690 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: NDUV1_HUMAN, P49821 (See protein sequence)

Recommended Name: NADH dehydrogenase [ubiquinone] flavoprotein 1, mitochondrial precursor

Size: 464 amino acids; 50817 Da

Cofactor: Binds 1 FMN (Potential)

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

Subunit: Complex I is composed of 45 different subunits. This is a component of the flavoprotein-sulfur (FP) fragment

of the enzyme

Subcellular location: Mitochondrion inner membrane; Peripheral membrane protein; Matrix side

Secondary accessions: O60924 O60940 Q16104 Q6IBR3 Q96BF8 Q96HS7

Alternative splicing: 2 isoforms: P49821-1 P49821-2 (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for NDUFV1: NX_P49821

Post-translational modifications:

View modification sites using PhosphoSitePlus²

View neXtProt modification sites for NX_P49821

4 DME Specific Peptides for NDUFV1 (P49821)

YIYIRGE

CTPCREG

SGLRGRGGAGF

GAGAYICGEETA

NDUFV1 Protein expression data from MOPED and PaxDb: About this image

REFSEQ proteins (2 alternative transcripts):

NP_001159574.1 NP_009034.2

ENSEMBL proteins:

ENSP00000322450 ENSP00000432015 ENSP00000435202 ENSP00000436906 ENSP00000436766

ENSP00000431751 ENSP00000395368 ENSP00000434575 ENSP00000437267 ENSP00000434438

ENSP00000436936 ENSP00000434581 ENSP00000435199 ENSP00000432637

Reactome Protein details: P49821
Human Recombinant Protein Products for NDUFV1:

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	Uscn Proteins for NDUFV1

Gene Ontology (GO): 3 cellular component terms (GO ID links to tree view): 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

NDUFV1 for ontologies About GeneDecksing

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	Uscn ELISAs and CLIAs for NDUFV1

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

NDUFV1 for domains About GeneDecksing

5 InterPro domains/families:

IPR011537 NADH-UbQ_OxRdtase_suF

IPR001949 NADH-UbQ_OxRdtase_51kDa_CS

IPR011538 NADH_UbQ_OxRdtase_51kDa_su

IPR019554 Soluble_ligand-bd

IPR019575 NADH-UbQ_OxRdtase_Fsu_4Fe4S-bd

Graphical View of Domain Structure for InterPro Entry P49821

ProtoNet protein and cluster: P49821

1 Blocks protein family: IPB001949 Respiratory-chain NADH dehydrogenase

UniProtKB/Swiss-Prot: NDUV1_HUMAN, P49821

Similarity: Belongs to the complex I 51 kDa subunit family

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

Molecular Function:

UniProtKB/Swiss-Prot Summary: NDUV1_HUMAN, P49821

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 NDUFV1:

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

phosphorylation (OXPHOS),flavoprotein 1,located at the inner mitochondrial membrane,expressed in testis and pancreas

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

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

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0008137	NADH dehydrogenase (ubiquinone) activity	NAS	8288251
GO:0010181	FMN binding	IEA	--
GO:0016651	oxidoreductase activity, acting on NAD(P)H	--	--
GO:0046872	metal ion binding	IEA	--
GO:0051287	NAD binding	IEA	--

NDUFV1 for ontologies About GeneDecksing

Phenotypes:
2 GenomeRNAi human phenotypes for NDUFV1:

Decreased POU5F1-GFP protein e

Wnt reporter downregulated

Animal Models:

inGenious Targeting Laboratory - Customizable classic, inducible, and humanized mouse model solutions for NDUFV1

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In Situ Assay
Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for NDUFV1

(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

Metformin Pathway, Pharmacodynamic

Metformin Pathway, Pharmacodynamic

1.00

Pathway sources
See GeneCards unified pathways
Show all pathways

2 BioSystems Pathways for NDUFV1

	Oxidative phosphorylation
	Electron Transport Chain

4 Reactome Pathways for NDUFV1

	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 NDUFV1

Metformin Pathway, Pharmacodynamic

5 Kegg Pathways (Kegg details for NDUFV1):

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

NDUFV1 for pathways About GeneDecksing

Interactions:

Search SABiosciences Gene Network Central^TM Interacting Genes and Proteins Networks for NDUFV1

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

5/284 Interacting proteins for NDUFV1 (P49821^{2, 3} ENSP00000322450⁴) via UniProtKB, MINT, STRING, and/or I2D (see all 284)

Interactant		Interaction Details
GeneCard	External ID(s)	Interaction Details
ICT1	Q14197²^,³, ENSP00000301585⁴	MINT-8079030 I2D: score=1 STRING: ENSP00000301585
NDUFA2	O43678³, ENSP00000252102⁴	I2D: score=1 STRING: ENSP00000252102
NDUFA9	Q16795², ENSP00000266544⁴	MINT-8079030 STRING: ENSP00000266544
UQCRC1	P31930², ENSP00000203407⁴	MINT-8079030 STRING: ENSP00000203407
UQCRC2	P22695², ENSP00000268379⁴	MINT-8079030 STRING: ENSP00000268379

About this table

Gene Ontology (GO): 3 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:0044281	small molecule metabolic process	TAS	--

NDUFV1 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 NDUFV1

10 HMDB Compounds for NDUFV1 About this table

Compound	Synonyms	CAS #	PubMed Ids
FAD	1H-Purin-6-amine flavin dinucleotide (see all 21)	146-14-5	--
Flavin Mononucleotide	FMN (see all 19)	146-17-8	--
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 NDUFV1 About this table

Compound	Synonyms	CAS #	Type	Actions	PubMed Ids
NADH	beta-DPNH (see all 18)	606-68-8	target	--	9571201 14662656 17139284 8288251 17016423

Search CenterWatch for drugs/clinical trials and news about NDUFV1 / NDUV1

(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, Sirion Biotech, 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 NDUFV1 gene (2 alternative transcripts):

NM_001166102.1 NM_007103.3

Unigene Cluster for NDUFV1:

NADH dehydrogenase (ubiquinone) flavoprotein 1, 51kDa

Hs.7744 [show with all ESTs]

Unigene Representative Sequence: BM805902

18/28 Ensembl transcripts including schematic representations, and UCSC links where relevant (see all 28):

ENST00000322776(uc001omk.4 uc001omj.2 uc010rpv.1) ENST00000532303(uc009yrz.1)

ENST00000532244 ENST00000528328 ENST00000529927 ENST00000524876 ENST00000524838

ENST00000532343 ENST00000415352(uc001oml.2) ENST00000528548 ENST00000532260

ENST00000530014 ENST00000530103 ENST00000525086 ENST00000534139 ENST00000533075

ENST00000529867 ENST00000526138

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Additional cDNA sequence:

AF053070.1 AF092131.1 AK223061.1 AK293522.1 AK300726.1 AK310537.1 AK316122.1 BC007619.1

BC008146.1 BC015645.2 CR456739.1 S67973.1

24/39 DOTS entries (see all 39):

DT.453241 DT.100855678 DT.95081755 DT.115413 DT.120718781 DT.97862607 DT.100855693 DT.95099712

DT.100031602 DT.100855676 DT.95081770 DT.100855700 DT.120718775 DT.92360281 DT.92389849 DT.95152736

DT.100855686 DT.120718835 DT.100031605 DT.120718772 DT.120718828 DT.120718763 DT.120718778 DT.120718830

24/1040 AceView cDNA sequences (see all 1040):

BP350741 BE870153 AU105088 AW328134 AU105035 CK820542 BG397701 BG029537

BU845581 BM827816 AU105048 BM548819 AU105036 BE867070 AU105092 CR603047

CR603191 AI186944 BM744167 AA326287 CB054601 BC015645 BG035480 BG762371

GeneLoc Exon Structure

5/20 Alternative Splicing Database (ASD) splice patterns (SP) for NDUFV1 (see all 20) About this scheme

ExUns:	1a	·	1b	·	1c	·	1d	·	1e	^	2a	·	2b	^	3	^	4	^	5a	·	5b	·	5c	·	5d	·	5e	^	6a	·	6b	·	6c	·	6d	·	6e	^	7	^	8a	·	8b	·	8c	·	8d	·	8e	·	8f	^
SP1:											-		-		-		-		-								-
SP2:									-		-		-		-		-		-								-
SP3:									-		-		-		-		-		-								-
SP4:
SP5:

ExUns:	9a	·	9b	·	9c	^	10a	·	10b	·	10c	·	10d	·	10e	·	10f	^	11a	·	11b	^	12a	·	12b	^	13a	·	13b
SP1:							-
SP2:							-
SP3:							-
SP4:			-		-
SP5:							-		-		-		-

ECgene alternative splicing isoforms for NDUFV1

(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

NDUFV1 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: TGGAATGCTG

About this image

NDUFV1 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 NDUFV1 Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for NDUFV1

SOURCE GeneReport for Unigene cluster: Hs.7744

SABiosciences Expression via Pathway-Focused PCR Array including NDUFV1:

Mitochondrial Energy Metabolism in human mouse rat

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

Orthologs for NDUFV1 gene from 10/39 species (see all 39) About this table

Organism	Taxonomic classification	Gene	Description	Human Similarity	Orthology Type	Details
mouse (Mus musculus)	Mammalia	Ndufv1^{1 , 5}	NADH dehydrogenase (ubiquinone) flavoprotein 1^{1, 5}	89.66(n)¹ 95.91(a)¹		19 (3.72 cM)⁵ 17995¹ NM_133666.2¹ NP_598427.1¹ 4007497⁵
chicken (Gallus gallus)	Aves	NDUFV1¹	NADH dehydrogenase (ubiquinone) flavoprotein 1, 51kDa	81.25(n) 89.93(a)		430210 NM_001031583.1 NP_001026754.1
lizard (Anolis carolinensis)	Reptilia	NDUFV1⁶	--	86(a)	1 ↔ 1	1(90639103-90645968)
African clawed frog (Xenopus laevis)	Amphibia	ndufv1-prov²	NADH dehydrogenase (ubiquinone) flavoprotein 1, 51kDa	76.86(n)		BC041320.1
zebrafish (Danio rerio)	Actinopterygii	CF348212.1²	--	79.13(n)		CF348212.1
fruit fly (Drosophila melanogaster)	Insecta	CG9140^{1 , 3}	NADH dehydrogenase (ubiquinone)³ CG9140¹	85(a) (best of 3)³ 72.82(n)¹ 82.42(a)¹		33852¹ NM_135143.2¹ NP_608987.1¹
worm (Caenorhabditis elegans)	Secernentea	nuo-1¹	Protein NUO-1	67.32(n) 78.99(a)		174696 NM_063975.2 NP_496376.1
thale cress (Arabidopsis thaliana)	eudicotyledons	CI51¹	NADH dehydrogenase (ubiquinone) flavoprotein 1	66.36(n) 74.6(a)		830752 NM_120938.3 NP_196470.1
rice (Oryza sativa)	Liliopsida	Os.7359²	Oryza sativa (japonica cultivar-group) cDNA cloneJ more	75.11(n)		AK065185.1
E. coli (Escherichia coli)	Gamma proteobacteria	nuoF⁶	NADH:ubiquinone oxidoreductase, chain F	38(a)	1 ↔ 1	Chromosome(2398240-2399577) b2284

ENSEMBL Gene Tree for NDUFV1 (if available)
TreeFam Gene Tree for NDUFV1 (if available)

(Paralogs according to ¹HomoloGene,
²Ensembl, and ³SIMAP, Pseudogenes according to ⁴Pseudogene.org Build 68)
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(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)
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SNP ID	Valid	Clinical significance	Chr 11 pos	Sequence	#	AA Chg	Type	More	#	Pop	Total sample
Genomic Data					Transcription Related Data				Allele Frequencies
				--	--	--		--	--
rs73490564^1,2	C	--	63701886(+)	`ACATGG/ACAAGT`	2	--	us2k¹		2	WA	120
rs77500882^1,2	F	--	63702059(+)	`CCACCC/TGCTGG`	2	--	us2k¹		1	NA	120
rs11227852^1,2	H	--	63703195(+)	`TGGCAG/AGGCTC`	2	--	us2k¹		4	NS EA	420
rs73490567^1,2	C	--	63703351(+)	`CAGAAG/TGCGAC`	2	--	us2k¹		1	WA	2
rs78309947^1,2	C,F	--	63703356(+)	`GGCGAC/TATGCG`	2	--	us2k¹		1	EA	120
rs73490568^1,2	C	--	63703656(+)	`CTATCG/ACGCCA`	2	--	ut5¹		3	WA CSA	121
rs11227853^1,2	C,F,H	--	63703947(+)	`AAGTAG/AGGGAA`	2	--	int¹		5	NS EA WA	536
rs112137440^1,2	C	--	63704424(+)	`GCTTGT/AGGGGC`	2	--	int¹		3	WA CSA	121
rs75750489^1,2	C	--	63704581(+)	`CCTATC/TAGAGT`	2	--	int¹		2	CSA WA	120
rs111396223^1,2	C	--	63704900(+)	`ATTACG/ACCACT`	2	--	int¹		1	WA	2

HapMap Linkage Disequilibrium report for NDUFV1 (67374323 - 67380012 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV): 2 variations for NDUFV1
2 CNVs: 53128 5275
Human Gene Mutation Database (HGMD): NDUFV1

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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.)
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NDUFV1 for disorders           About GeneDecksing

OMIM gene information: 161015
OMIM disorders: 256000  203450  252010
UniProtKB/Swiss-Prot: NDUV1_HUMAN, P49821

Defects in NDUFV1 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 NDUFV1 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

20 diseases for NDUFV1: About MalaCards

mitochondrial complex i deficiency parkinson's disease leber hereditary optic neuropathy myopathy

spastic diplegia lactic acidosis encephalomyopathy alexander disease

dilated cardiomyopathy complex v leigh disease spasticity

leukodystrophy huntington's disease neuropathy hypotonia

cardiomyopathy schizophrenia tuberculosis mycobacterium tuberculosis

2 diseases from the University of Copenhagen DISEASES database for NDUFV1:

Leigh disease Spastic diplegia

Genatlas disease: NDUFV1

myoclonic epilepsy,hypotonia,leukodystrophy,complex 1 deficiency

Human Genome Epidemiology (HuGE) Navigator: NDUFV1 (4 documents)

Export disorders for NDUFV1 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)
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PubMed articles for NDUFV1 gene, integrated from 9 sources (see all 37):
(articles sorted by number of sources associating them with NDUFV1)

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

Chromosomal localization of the human gene encoding the 51-kDa subunit of mitochondrial complex I (NDUFV1) to 11q13. (PubMed id 8288251)^{1, 2, 7, 9} Ali S.T.... Robinson B.H. (1993)
Cloning of the human mitochondrial 51 kDa subunit (NDUFV1) reveals a 100% antisense homology of its 3'UTR with the 5'UTR of the gamma- interferon inducible protein (IP-30) precursor: is this a link between mitochondrial myopathy and inflammation? (PubMed id 9571201)^{1, 2, 7} Schuelke M.... van den Heuvel L. (1998)
The human mitochondrial NADH: ubiquinone oxidoreductase 51-kDa subunit maps adjacent to the glutathione S-transferase P1-1 gene on chromosome 11q13. (PubMed id 1478657)^{1, 2, 3} Spencer S.R....Ketterer B. (1992)
Large-scale deletion and point mutations of the nuclear NDUFV1 and NDUFS1 genes in mitochondrial complex I deficiency. (PubMed id 11349233)^{1, 2, 9} Benit P....Roetig A. (2001)
The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)^{1, 2} Gerhard D.S....Malek J. (2004)
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)
Gene expression profiling in the human hypothalamus-pituitary-adrenal axis and full-length cDNA cloning. (PubMed id 10931946)^{1, 2} Hu R.-M.... Chen J.-L. (2000)
Mutant NDUFV1 subunit of mitochondrial complex I causes leukodystrophy and myoclonic epilepsy. (PubMed id 10080174)^{1, 2} Schuelke M.... van den Heuvel L. (1999)
The structure of the human NDUFV1 gene encoding the 51-kDa subunit of mitochondrial complex I. (PubMed id 9892733)^{1, 2} de Coo R.F.M.... van Oost B.A. (1999)
Mitochondrial complex I mutations in Caenorhabditis elegans produce cytochrome c oxidase deficiency, oxidative stress and vitamin-responsive lactic acidosis. (PubMed id 14662656)^{7, 9} Grad L.I. and Lemire B.D. (2004)

(in PubMed, OMIM, and NCBI Bookshelf)
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		AND	OR
Aliases
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(According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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Entrez Gene: 4723	HGNC: 7716	AceView: NDUFV1	Ensembl:ENSG00000167792	euGenes: HUgn4723
ECgene: NDUFV1	Kegg: 4723	H-InvDB: NDUFV1

(According to HUGE)
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(According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
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Name	Description
PharmGKB entry for NDUFV1	Pharmacogenomics, SNPs, Pathways
GeneReviews	http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/NDUFV1

Intellectual Property for NDUFV1 gene
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Patent Information for NDUFV1 gene:
Search GeneIP for patents involving NDUFV1

GeneCards and IP:
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NDUFV1 Gene

NADH dehydrogenase (ubiquinone) flavoprotein 1, 51kDa

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NDUFV1 Gene

NADH dehydrogenase (ubiquinone) flavoprotein 1, 51kDa

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