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].
The following NDUFV1 gene cDNA ORF clone sequences were retrieved from the NCBI Reference Sequence Database (RefSeq). These sequences represent the protein coding region of the NDUFV1 cDNA ORF which is encoded by the open reading frame (ORF) sequence. ORF sequences can be delivered in our standard vector, pcDNA3.1+/C-(K)DYK or the vector of your choice as an expression/transfection-ready ORF clone. Not the clone you want? Click here to find your clone.
Comment: REVIEWED REFSEQ: This record has been curated by NCBI staff. The reference sequence was derived from BP254989.1, BC008146.1, DB532599.1 and AP003385.2. On May 31, 2019 this sequence version replaced NM_001166102.1.
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.
Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications.
##Evidence-Data-START##
Transcript exon combination :: BC008146.1, SRR7410570.489478.1 [ECO:0000332]
RNAseq introns :: single sample supports all introns SAMEA1968540, SAMEA1968832 [ECO:0000348]
##Evidence-Data-END##
##RefSeq-Attributes-START##
gene product(s) localized to mito. :: reported by MitoCarta
##RefSeq-Attributes-END##
COMPLETENESS: full length.
Comment: REVIEWED REFSEQ: This record has been curated by NCBI staff. The reference sequence was derived from BP254989.1, BC008146.1 and DB532599.1.
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.
Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications.
##Evidence-Data-START##
Transcript exon combination :: BC008146.1, SRR1163655.97145.1 [ECO:0000332]
RNAseq introns :: single sample supports all introns SAMEA1968540, SAMEA1968832 [ECO:0000348]
##Evidence-Data-END##
##RefSeq-Attributes-START##
gene product(s) localized to mito. :: reported by MitoCarta
##RefSeq-Attributes-END##
COMPLETENESS: full length.
Comment: REVIEWED REFSEQ: This record has been curated by NCBI staff. The reference sequence was derived from AF053070.1, DB532599.1 and AP003385.2. This sequence is a reference standard in the RefSeqGene project. On May 17, 2019 this sequence version replaced NM_007103.3.
Transcript Variant: This variant (1) represents the longer transcript and encodes the longer protein (isoform 1).
Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications.
##Evidence-Data-START##
Transcript exon combination :: AF053070.1, SRR1660805.94772.1 [ECO:0000332]
RNAseq introns :: single sample supports all introns SAMEA1965299, SAMEA1966682 [ECO:0000348]
##Evidence-Data-END##
##RefSeq-Attributes-START##
gene product(s) localized to mito. :: reported by MitoCarta
MANE Ensembl match :: ENST00000322776.11/ ENSP00000322450.6
RefSeq Select criteria :: based on conservation, expression, longest protein
##RefSeq-Attributes-END##
COMPLETENESS: full length.
Comment: REVIEWED REFSEQ: This record has been curated by NCBI staff. The reference sequence was derived from AU099299.1, AF053070.1 and DB532599.1. This sequence is a reference standard in the RefSeqGene project. On Jan 13, 2008 this sequence version replaced NM_007103.2.
Transcript Variant: This variant (1) represents the longer transcript and encodes the longer protein (isoform 1).
Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications.
##Evidence-Data-START##
Transcript exon combination :: SRR1163657.579810.1, SRR1803614.132019.1 [ECO:0000332]
RNAseq introns :: single sample supports all introns SAMEA1965299, SAMEA1966682 [ECO:0000348]
##Evidence-Data-END##
##RefSeq-Attributes-START##
gene product(s) localized to mito. :: reported by MitoCarta
##RefSeq-Attributes-END##
COMPLETENESS: full length.
User Manual
NM_001166102.2
