NDUFV1 NADH:ubiquinone oxidoreductase core subunit V1 [Homo sapiens (human)] - Gene

Summary

Official Symbol: NDUFV1provided by HGNC
Official Full Name: NADH:ubiquinone oxidoreductase core subunit V1provided by HGNC
Primary source: HGNC:HGNC:7716
See related: Ensembl:ENSG00000167792 MIM:161015; AllianceGenome:HGNC:7716
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: UQOR1; CI-51K; CI51KD; MC1DN4
Summary: 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]
Expression: Ubiquitous expression in heart (RPKM 100.7), kidney (RPKM 86.9) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 11q13.2

Exon count:: 10

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	11	NC_000011.10 (67606936..67612554)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	11	NC_060935.1 (67601624..67607243)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	11	NC_000011.9 (67374407..67380025)

Chromosome 11 - NC_000011.10 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

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Expression

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See details

Project title: HPA RNA-seq normal tissues 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

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Compound heterozygous mutations of NDUFV1 identified in a child with mitochondrial complex I deficiency.
Title: Compound heterozygous mutations of NDUFV1 identified in a child with mitochondrial complex I deficiency.
Intracellular CYTL1, a novel tumor suppressor, stabilizes NDUFV1 to inhibit metabolic reprogramming in breast cancer.
Title: Intracellular CYTL1, a novel tumor suppressor, stabilizes NDUFV1 to inhibit metabolic reprogramming in breast cancer.
Biallelic missense variants in NDUFV1 were identified in two cases of mitochondrial complex I deficiency.
Title: Genetic diversity of NDUFV1-dependent mitochondrial complex I deficiency.
Mutations in the ND6, NDUFV1 or ACAD9 genes are responsible for the mitochondrial complex I deficiency.
Title: Evaluation of mitochondrial bioenergetics, dynamics, endoplasmic reticulum-mitochondria crosstalk, and reactive oxygen species in fibroblasts from patients with complex I deficiency.
we have used a yeast model system to study the molecular consequences of 16 single amino acid substitutions, classified as pathogenic, in the NDUFV1 subunit of complex I
Title: Characterization of clinically identified mutations in NDUFV1, the flavin-binding subunit of respiratory complex I, using a yeast model system.
The presented clinical courses of NDUFV1 and NDUFS1 mutation-based complex I deficiencies are characterized by leukoencephalopathy or early death and expand the already heterogeneous phenotypic spectrum.
Title: Broad phenotypic variability in patients with complex I deficiency due to mutations in NDUFS1 and NDUFV1.
small number of putative de novo variants were transmitted from BAP parents to their ASD offspring, and evidence emerged for a rare duplication CNV at 11p13.3 harboring two putative developmental/neuropsychiatric susceptibility gene(s), GSTP1 and NDUFV1.
Title: Using extended pedigrees to identify novel autism spectrum disorder (ASD) candidate genes.
The results affirm that NDUFV1 mutations are causative of the phenotype in two siblings affected by a diffuse leukodystrophy.
Title: A novel familial case of diffuse leukodystrophy related to NDUFV1 compound heterozygous mutations.
observed 2 consanguinous siblings with early-onset encephalopathy, medulla, brainstem and mesencephalon lesions and death before 8 months of age, caused by a complex I deficiency; identified a missense mutation in the NDUFV1 gene; the mutation, p.Arg386His, affects a highly conserved residue
Title: A novel NDUFV1 gene mutation in complex I deficiency in consanguineous siblings with brainstem lesions and Leigh syndrome.
study describes clinical, radiological, biochemical and molecular data of 6 patients with Leigh syndrome with novel mutations in NDUFV1 and NDUFS2; 2 siblings were homozygous for previously undescribed R386C mutation in NDUFV1
Title: Leigh syndrome associated with mitochondrial complex I deficiency due to novel mutations In NDUFV1 and NDUFS2.

Submit: New GeneRIF Correction See all GeneRIFs (14)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description	Tests
Mitochondrial complex 1 deficiency, nuclear type 4 MedGen: C4748753 OMIM: 618225 GeneReviews: Not available	Compare labs

Variation

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See studies and variants in dbVar

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Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

D11S2245E (e-PCR)
- UniSTS:49977

RH11768 (e-PCR)
- UniSTS:13146

A002J17 (e-PCR)
- UniSTS:12395

STS-N93261 (e-PCR)
- UniSTS:37099

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables 4 iron, 4 sulfur cluster binding	IEA Inferred from Electronic Annotation more info
enables FMN binding	IEA Inferred from Electronic Annotation more info
enables NAD binding	IEA Inferred from Electronic Annotation more info
enables NADH dehydrogenase (ubiquinone) activity	IDA Inferred from Direct Assay more info	PubMed
enables NADH dehydrogenase (ubiquinone) activity	NAS Non-traceable Author Statement more info	PubMed
enables metal ion binding	IEA Inferred from Electronic Annotation more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in aerobic respiration	NAS Non-traceable Author Statement more info	PubMed
involved_in mitochondrial ATP synthesis coupled electron transport	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in mitochondrial electron transport, NADH to ubiquinone	IBA Inferred from Biological aspect of Ancestor more info
involved_in mitochondrial electron transport, NADH to ubiquinone	IC Inferred by Curator more info	PubMed
involved_in mitochondrial electron transport, NADH to ubiquinone	IDA Inferred from Direct Assay more info	PubMed
involved_in mitochondrial electron transport, NADH to ubiquinone	NAS Non-traceable Author Statement more info	PubMed
involved_in proton motive force-driven mitochondrial ATP synthesis	NAS Non-traceable Author Statement more info	PubMed
involved_in proton transmembrane transport	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
located_in cytosol	IDA Inferred from Direct Assay more info
located_in mitochondrial inner membrane	IDA Inferred from Direct Assay more info	PubMed
located_in mitochondrial inner membrane	NAS Non-traceable Author Statement more info	PubMed
located_in mitochondrial inner membrane	TAS Traceable Author Statement more info
located_in mitochondrion	HTP more info	PubMed
located_in mitochondrion	IDA Inferred from Direct Assay more info
part_of respiratory chain complex I	IBA Inferred from Biological aspect of Ancestor more info
part_of respiratory chain complex I	IDA Inferred from Direct Assay more info	PubMed
part_of respiratory chain complex I	IMP Inferred from Mutant Phenotype more info	PubMed

General protein information

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Preferred Names: NADH dehydrogenase [ubiquinone] flavoprotein 1, mitochondrial

Names: NADH dehydrogenase (ubiquinone) flavoprotein 1, 51kDa; NADH-ubiquinone oxidoreductase 51 kDa subunit; complex I 51 kda subunit; complex I 51kDa subunit; complex I, mitochondrial respiratory chain; mitochondrial NADH dehydrogenase ubiquinone flavoprotein 1; mitochondrial NADH:ubiquinone oxidoreductase 51 kda subunit

NP_001159574.1

EC 7.1.1.2

NP_009034.2

EC 7.1.1.2

NCBI Reference Sequences (RefSeq)

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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

NG_013353.1 RefSeqGene

Range

5085..10703

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_001166102.2 → NP_001159574.1 NADH dehydrogenase [ubiquinone] flavoprotein 1, mitochondrial isoform 2 precursor

See identical proteins and their annotated locations for NP_001159574.1

Status: REVIEWED

Description

Transcript Variant: This variant (2) uses an alternate in-frame splice site in the 5' coding region, compared to variant 1, resulting in a shorter protein (isoform 2), compared to isoform 1.

Source sequence(s)

AP003385, BC008146, BP254989, DB532599

Consensus CDS

CCDS53669.1

UniProtKB/TrEMBL

G3V0I5

Related

ENSP00000436766.1, ENST00000529927.5

Conserved Domains (4) summary

PRK13596
Location:26 → 444

PRK13596; NADH dehydrogenase I subunit F; Provisional

pfam01512
Location:71 → 240

Complex1_51K; Respiratory-chain NADH dehydrogenase 51 Kd subunit

pfam10531
Location:266 → 318

SLBB; SLBB domain

pfam10589
Location:357 → 438

NADH_4Fe-4S; NADH-ubiquinone oxidoreductase-F iron-sulfur binding region
NM_007103.4 → NP_009034.2 NADH dehydrogenase [ubiquinone] flavoprotein 1, mitochondrial isoform 1 precursor

See identical proteins and their annotated locations for NP_009034.2

Status: REVIEWED

Description

Transcript Variant: This variant (1) represents the longer transcript and encodes the longer protein (isoform 1).

Source sequence(s)

AF053070, AP003385, DB532599

Consensus CDS

CCDS8173.1

UniProtKB/Swiss-Prot

O60924, O60940, P49821, Q16104, Q6IBR3, Q96BF8, Q96HS7

UniProtKB/TrEMBL

E5KNH5, Q53G70

Related

ENSP00000322450.6, ENST00000322776.11

Conserved Domains (1) summary

PRK13596
Location:35 → 453

PRK13596; NADH dehydrogenase I subunit F; Provisional