NDUFAF4 cDNA ORF clone, Homo sapiens(human)

Gene
Clones
gRNAs

Summary

Gene Symbol	NDUFAF4
Entrez Gene ID	29078
Full Name	NADH:ubiquinone oxidoreductase complex assembly factor 4
Synonyms	C6orf66,HRPAP20,HSPC125,My013,bA22L21.1
General protein information	Preferred Names NADH:ubiquinone oxidoreductase complex assembly factor 4 Names NADH dehydrogenase [ubiquinone] 1 alpha subcomplex assembly factor 4 NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, assembly factor 4 NADH dehydrogenase (ubiquinone) complex I, assembly factor 4 hormone-regulated proliferation-associated protein of 20 kDa hormone-regulated proliferation-associated protein, 20 kDa
Gene Type	protein-coding
Organism	Homo sapiens(human)
Genome	Chromosome: 6 Map Location: 6q16.1
Summary	NADH:ubiquinone oxidoreductase (complex I) catalyzes the transfer of electrons from NADH to ubiquinone (coenzyme Q) in the first step of the mitochondrial respiratory chain, resulting in the translocation of protons across the inner mitochondrial membrane. This gene encodes a complex I assembly factor. Mutations in this gene are a cause of mitochondrial complex I deficiency. [provided by RefSeq, Oct 2009].
Disorder MIM:	611776
Disorder Html:	Mitochondrial complex I deficiency, 252010 (3)

mRNA and Protein(s)

mRNA	Protein	Name
NM_014165.4	NP_054884.1	NADH dehydrogenase [ubiquinone] 1 alpha subcomplex assembly factor 4
NM_014165.3	NP_054884.1	NADH dehydrogenase [ubiquinone] 1 alpha subcomplex assembly factor 4

Pathways from BioSystems

Homologies

Rattus norvegicus (Norway rat)	Ndufaf4	NP_942078.1
Drosophila melanogaster (fruit fly)	CG11722	NP_649970.1
Anopheles gambiae (African malaria mosquito)	AgaP_AGAP007625	XP_308247.4
Canis lupus familiaris (dog)	NDUFAF4	XP_532238.1
Bos taurus (cattle)	NDUFAF4	NP_001076985.1
Xenopus tropicalis (tropical clawed frog)	ndufaf4	NP_001135673.1
Pan troglodytes (chimpanzee)	NDUFAF4	XP_001135738.1
Mus musculus (house mouse)	Ndufaf4	NP_081018.1
Danio rerio (zebrafish)	ndufaf4	XP_003200703.1
Homo sapiens (human)	NDUFAF4	NP_054884.1
	NDUFAF4	XP_001100962.1
Gallus gallus (chicken)	NDUFAF4	XP_003641061.1

Gene Ontology
Bibliography

Related articles in PubMed

NDUFAF4 variants are associated with Leigh syndrome and cause a specific mitochondrial complex I assembly defect.
Baertling F, S?nchez-Caballero L, van den Brand MAM, Wintjes LT, Brink M, van den Brandt FA, Wilson C, Rodenburg RJT, Nijtmans LGJ
European journal of human genetics : EJHG25(11)1273-1277(2017 Nov)

Mitochondrial Protein Interaction Mapping Identifies Regulators of Respiratory Chain Function.
Floyd BJ, Wilkerson EM, Veling MT, Minogue CE, Xia C, Beebe ET, Wrobel RL, Cho H, Kremer LS, Alston CL, Gromek KA, Dolan BK, Ulbrich A, Stefely JA, Bohl SL, Werner KM, Jochem A, Westphall MS, Rensvold JW, Taylor RW, Prokisch H, Kim JP, Coon JJ, Pagliarini DJ
Molecular cell63(4)621-632(2016 Aug)

Widespread macromolecular interaction perturbations in human genetic disorders.
Sahni N, Yi S, Taipale M, Fuxman Bass JI, Coulombe-Huntington J, Yang F, Peng J, Weile J, Karras GI, Wang Y, Kov?cs IA, Kamburov A, Krykbaeva I, Lam MH, Tucker G, Khurana V, Sharma A, Liu YY, Yachie N, Zhong Q, Shen Y, Palagi A, San-Miguel A, Fan C, Balcha D, Dricot A, Jordan DM, Walsh JM, Shah AA, Yang X, Stoyanova AK, Leighton A, Calderwood MA, Jacob Y, Cusick ME, Salehi-Ashtiani K, Whitesell LJ, Sunyaev S, Berger B, Barab?si AL, Charloteaux B, Hill DE, Hao T, Roth FP, Xia Y, Walhout AJM, Lindquist S, Vidal M
Cell161(3)647-660(2015 Apr)

TIMMDC1/C3orf1 functions as a membrane-embedded mitochondrial complex I assembly factor through association with the MCIA complex.
Guarani V, Paulo J, Zhai B, Huttlin EL, Gygi SP, Harper JW
Molecular and cellular biology34(5)847-61(2014 Mar)

Replacement of the C6ORF66 assembly factor (NDUFAF4) restores complex I activity in patient cells.
Marcus D, Lichtenstein M, Saada A, Lorberboum-Galski H
Molecular medicine (Cambridge, Mass.)19124-34(2013 Jul)

GeneRIFs: Gene References Into Functions What's a GeneRIF?

Observational study of gene-disease association. (HuGE Navigator)
Title: Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.

Mutations in NDUFAF3 (C3ORF60), encoding an NDUFAF4 (C6ORF66)-interacting complex I assembly protein, cause fatal neonatal mitochondrial disease.
Title: Mutations in NDUFAF3 (C3ORF60), encoding an NDUFAF4 (C6ORF66)-interacting complex I assembly protein, cause fatal neonatal mitochondrial disease.

Specific lack of complex I was detected in thyroid cancers expressing less than 5% of the amount in surrounding non-cancerous tissue.
Title: Lack of complex I is associated with oncocytic thyroid tumours.

Homozygosity mapping of 5 patients from a consanguineous family with infantile mitochondrial encephalomyopathy resulted in the identification of a missense mutation in a conserved residue of the C6ORF66.
Title: C6ORF66 is an assembly factor of mitochondrial complex I.

HRPAP20 and TIMELESS as promising markers of tamoxifen resistance in women with ER alpha-positive breast tumors.
Title: Oligonucleotide microarray analysis of estrogen receptor alpha-positive postmenopausal breast carcinomas: identification of HRPAP20 and TIMELESS as outstanding candidate markers to predict the response to tamoxifen.

The following NDUFAF4 gene cDNA ORF clone sequences were retrieved from the NCBI Reference Sequence Database (RefSeq). These sequences represent the protein coding region of the NDUFAF4 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.

***CloneID	Accession No.	Definition	**Vector	*Turnaround time	Price (USD)
OHu22031	NM_014165.4 Latest version!	Homo sapiens NADH:ubiquinone oxidoreductase complex assembly factor 4 (NDUFAF4), mRNA.	pcDNA3.1-C-(k)DYK or customized vector	7-9	$69.30 $99.00
View Old Accession Versions >>
OHu22031	NM_014165.3	Homo sapiens NADH:ubiquinone oxidoreductase complex assembly factor 4 (NDUFAF4), mRNA.	pcDNA3.1-C-(k)DYK or customized vector	7-9	$69.30 $99.00
Hide Old Accession Versions >>

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** You may select a custom vector to replace pcDNA3.1+/C-(K)DYK after clone is added to cart.

** GenScript guarantees 100% sequence accuracy of all synthetic DNA constructs we deliver, but we do not guarantee protein expression in your experimental system. Protein expression is influenced by many factors that may vary between experiments or laboratories. In addition, please pay attention to the signal peptide, propeptide and transit peptide in target ORF, which may affect the choice of vector (N/C terminal tag vector).

***One clone ID might be correlated to multiple accession numbers, which share the same CDS sequence.

Reference Sequences (Refseq)

NDUFAF4 ( NM_014165.4 ) cDNA ORF clone, Homo sapiens(human) -> NP_054884.1 Homo sapiens NADH:ubiquinone oxidoreductase complex assembly factor 4 (NDUFAF4), mRNA.

Price & Availability↑

CloneID	OHu22031
Clone ID Related Accession (Same CDS sequence)	NM_014165.4 , NM_014165.3
Accession Version	NM_014165.4 Latest version!	Documents for ORF clone product in default vector
Sequence Information	ORF Nucleotide Sequence (Length: 528bp) Protein sequence SNP
Vector	pcDNA3.1-C-(k)DYK or customized vector	User Manual
Clone information	Clone Map	MSDS
Tag on pcDNA3.1⁺/C-(K)DYK	C terminal DYKDDDDK tags
ORF Insert Method	CloneEZ™ Seamless cloning technology
Insert Structure	linear
Update Date	2019-11-16
Organism	Homo sapiens(human)
Product	NADH dehydrogenase [ubiquinone] 1 alpha subcomplex assembly factor 4
Comment	Comment: REVIEWED REFSEQ: This record has been curated by NCBI staff. The reference sequence was derived from DB253189.1, BC018802.1 and AL159985.11. This sequence is a reference standard in the RefSeqGene project. On Nov 22, 2018 this sequence version replaced NM_014165.3. Sequence Note: This RefSeq record was created from transcript and genomic sequence data to make the sequence consistent with the reference genome assembly. The genomic coordinates used for the transcript record were based on transcript alignments. 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 :: SRR3476690.801582.1, SRR1660809.258294.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA2467146, SAMEA2467148 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## gene product(s) localized to mito. :: reported by MitoCarta MANE Ensembl match :: ENST00000316149.8/ ENSP00000358272.4 RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END## COMPLETENESS: full length.

ATGGGAGCAC TAGTGATTCG CGGTATCAGG AATTTCAACC TAGAGAACCG AGCGGAACGG 
GAAATCAGCA AGATGAAGCC CTCTGTCGCT CCCAGACACC CCTCTACCAA CAGCCTCCTG 
CGAGAGCAGA TTAGTCTCTA TCCAGAAGTT AAAGGAGAGA TTGCTCGTAA AGATGAAAAG 
CTGCTGTCGT TTCTAAAAGA TGTGTATGTT GATTCCAAAG ATCCTGTGTC TTCCTTGCAG 
GTAAAAGCTG CTGAAACATG TCAAGAGCCG AAGGAATTCA GATTGCCGAA AGACCATCAT 
TTTGATATGA TAAATATTAA GAGCATTCCC AAAGGCAAAA TTTCCATTGT AGAAGCATTG 
ACACTTCTCA ATAATCATAA GCTTTTCCCA GAAACCTGGA CTGCTGAGAA AATAATGCAG 
GAATACCAGT TAGAACAGAA AGATGTGAAT TCTCTTCTTA AATATTTTGT TACTTTTGAA 
GTCGAAATCT TCCCTCCTGA AGACAAGAAA GCAATACGAT CAAAATGA

The stop codons will be deleted if pcDNA3.1⁺/C-(K)DYK vector is selected.

RefSeq	NP_054884.1
CDS	91..618
Translation	MGALVIRGIRNFNLENRAEREISKMKPSVAPRHPSTNSLLREQISLYPEVKGEIARKDEKLLSFLKDVYVDSKDPVSSLQVKAAETCQEPKEFRLPKDHHFDMINIKSIPKGKISIVEALTLLNNHKLFPETWTAEKIMQEYQLEQKDVNSLLKYFVTFEVEIFPPEDKKAIRSK

Target ORF information:

RefSeq Version	NM_014165.4
Organism	Homo sapiens(human)
Definition	Homo sapiens NADH:ubiquinone oxidoreductase complex assembly factor 4 (NDUFAF4), mRNA.

Target ORF information:

Epitope	DYKDDDDK
Bacterial selection	AMP^R
Mammalian selection	Neo^R
Vector	pcDNA3.1⁺/C-(K)DYK

NM_014165.4

ORF Insert Sequence:

ATGGGAGCAC TAGTGATTCG CGGTATCAGG AATTTCAACC TAGAGAACCG AGCGGAACGG 
GAAATCAGCA AGATGAAGCC CTCTGTCGCT CCCAGACACC CCTCTACCAA CAGCCTCCTG 
CGAGAGCAGA TTAGTCTCTA TCCAGAAGTT AAAGGAGAGA TTGCTCGTAA AGATGAAAAG 
CTGCTGTCGT TTCTAAAAGA TGTGTATGTT GATTCCAAAG ATCCTGTGTC TTCCTTGCAG 
GTAAAAGCTG CTGAAACATG TCAAGAGCCG AAGGAATTCA GATTGCCGAA AGACCATCAT 
TTTGATATGA TAAATATTAA GAGCATTCCC AAAGGCAAAA TTTCCATTGT AGAAGCATTG 
ACACTTCTCA ATAATCATAA GCTTTTCCCA GAAACCTGGA CTGCTGAGAA AATAATGCAG 
GAATACCAGT TAGAACAGAA AGATGTGAAT TCTCTTCTTA AATATTTTGT TACTTTTGAA 
GTCGAAATCT TCCCTCCTGA AGACAAGAAA GCAATACGAT CAAAATGA

The stop codons will be deleted if pcDNA3.1⁺/C-(K)DYK vector is selected.

NDUFAF4 ( NM_014165.3 ) cDNA ORF clone, Homo sapiens(human) -> NP_054884.1 Homo sapiens NADH:ubiquinone oxidoreductase complex assembly factor 4 (NDUFAF4), mRNA.

Price & Availability↑

CloneID	OHu22031
Clone ID Related Accession (Same CDS sequence)	NM_014165.4 , NM_014165.3
Accession Version	NM_014165.3	Documents for ORF clone product in default vector
Sequence Information	ORF Nucleotide Sequence (Length: 528bp) Protein sequence SNP
Vector	pcDNA3.1-C-(k)DYK or customized vector	User Manual
Clone information	Clone Map	MSDS
Tag on pcDNA3.1⁺/C-(K)DYK	C terminal DYKDDDDK tags
ORF Insert Method	CloneEZ™ Seamless cloning technology
Insert Structure	linear
Update Date	2017-10-30
Organism	Homo sapiens(human)
Product	NADH dehydrogenase [ubiquinone] 1 alpha subcomplex assembly factor 4
Comment	Comment: REVIEWED REFSEQ: This record has been curated by NCBI staff. The reference sequence was derived from DB253189.1, BC018802.1 and AL159985.11. This sequence is a reference standard in the RefSeqGene project. On Oct 2, 2009 this sequence version replaced NM_014165.2. Sequence Note: This RefSeq record was created from transcript and genomic sequence data to make the sequence consistent with the reference genome assembly. The genomic coordinates used for the transcript record were based on transcript alignments. 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 :: CB106436.1, SRR1660809.258294.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA2467146, SAMEA2467148 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## gene product(s) localized to mito. :: reported by MitoCarta ##RefSeq-Attributes-END## COMPLETENESS: complete on the 3' end.

ATGGGAGCAC TAGTGATTCG CGGTATCAGG AATTTCAACC TAGAGAACCG AGCGGAACGG 
GAAATCAGCA AGATGAAGCC CTCTGTCGCT CCCAGACACC CCTCTACCAA CAGCCTCCTG 
CGAGAGCAGA TTAGTCTCTA TCCAGAAGTT AAAGGAGAGA TTGCTCGTAA AGATGAAAAG 
CTGCTGTCGT TTCTAAAAGA TGTGTATGTT GATTCCAAAG ATCCTGTGTC TTCCTTGCAG 
GTAAAAGCTG CTGAAACATG TCAAGAGCCG AAGGAATTCA GATTGCCGAA AGACCATCAT 
TTTGATATGA TAAATATTAA GAGCATTCCC AAAGGCAAAA TTTCCATTGT AGAAGCATTG 
ACACTTCTCA ATAATCATAA GCTTTTCCCA GAAACCTGGA CTGCTGAGAA AATAATGCAG 
GAATACCAGT TAGAACAGAA AGATGTGAAT TCTCTTCTTA AATATTTTGT TACTTTTGAA 
GTCGAAATCT TCCCTCCTGA AGACAAGAAA GCAATACGAT CAAAATGA

The stop codons will be deleted if pcDNA3.1⁺/C-(K)DYK vector is selected.

RefSeq	NP_054884.1
CDS	91..618
Translation	MGALVIRGIRNFNLENRAEREISKMKPSVAPRHPSTNSLLREQISLYPEVKGEIARKDEKLLSFLKDVYVDSKDPVSSLQVKAAETCQEPKEFRLPKDHHFDMINIKSIPKGKISIVEALTLLNNHKLFPETWTAEKIMQEYQLEQKDVNSLLKYFVTFEVEIFPPEDKKAIRSK

Target ORF information:

RefSeq Version	NM_014165.3
Organism	Homo sapiens(human)
Definition	Homo sapiens NADH:ubiquinone oxidoreductase complex assembly factor 4 (NDUFAF4), mRNA.

Target ORF information:

Epitope	DYKDDDDK
Bacterial selection	AMP^R
Mammalian selection	Neo^R
Vector	pcDNA3.1⁺/C-(K)DYK

NM_014165.3

ORF Insert Sequence:

ATGGGAGCAC TAGTGATTCG CGGTATCAGG AATTTCAACC TAGAGAACCG AGCGGAACGG 
GAAATCAGCA AGATGAAGCC CTCTGTCGCT CCCAGACACC CCTCTACCAA CAGCCTCCTG 
CGAGAGCAGA TTAGTCTCTA TCCAGAAGTT AAAGGAGAGA TTGCTCGTAA AGATGAAAAG 
CTGCTGTCGT TTCTAAAAGA TGTGTATGTT GATTCCAAAG ATCCTGTGTC TTCCTTGCAG 
GTAAAAGCTG CTGAAACATG TCAAGAGCCG AAGGAATTCA GATTGCCGAA AGACCATCAT 
TTTGATATGA TAAATATTAA GAGCATTCCC AAAGGCAAAA TTTCCATTGT AGAAGCATTG 
ACACTTCTCA ATAATCATAA GCTTTTCCCA GAAACCTGGA CTGCTGAGAA AATAATGCAG 
GAATACCAGT TAGAACAGAA AGATGTGAAT TCTCTTCTTA AATATTTTGT TACTTTTGAA 
GTCGAAATCT TCCCTCCTGA AGACAAGAAA GCAATACGAT CAAAATGA

The stop codons will be deleted if pcDNA3.1⁺/C-(K)DYK vector is selected.

PubMed

NDUFAF4 variants are associated with Leigh syndrome and cause a specific mitochondrial complex I assembly defect.
European journal of human genetics : EJHG25(11)1273-1277(2017 Nov)
Baertling F,S?nchez-Caballero L,van den Brand MAM,Wintjes LT,Brink M,van den Brandt FA,Wilson C,Rodenburg RJT,Nijtmans LGJ

Mitochondrial Protein Interaction Mapping Identifies Regulators of Respiratory Chain Function.
Molecular cell63(4)621-632(2016 Aug)
Floyd BJ,Wilkerson EM,Veling MT,Minogue CE,Xia C,Beebe ET,Wrobel RL,Cho H,Kremer LS,Alston CL,Gromek KA,Dolan BK,Ulbrich A,Stefely JA,Bohl SL,Werner KM,Jochem A,Westphall MS,Rensvold JW,Taylor RW,Prokisch H,Kim JP,Coon JJ,Pagliarini DJ

Widespread macromolecular interaction perturbations in human genetic disorders.
Cell161(3)647-660(2015 Apr)
Sahni N,Yi S,Taipale M,Fuxman Bass JI,Coulombe-Huntington J,Yang F,Peng J,Weile J,Karras GI,Wang Y,Kov?cs IA,Kamburov A,Krykbaeva I,Lam MH,Tucker G,Khurana V,Sharma A,Liu YY,Yachie N,Zhong Q,Shen Y,Palagi A,San-Miguel A,Fan C,Balcha D,Dricot A,Jordan DM,Walsh JM,Shah AA,Yang X,Stoyanova AK,Leighton A,Calderwood MA,Jacob Y,Cusick ME,Salehi-Ashtiani K,Whitesell LJ,Sunyaev S,Berger B,Barab?si AL,Charloteaux B,Hill DE,Hao T,Roth FP,Xia Y,Walhout AJM,Lindquist S,Vidal M

TIMMDC1/C3orf1 functions as a membrane-embedded mitochondrial complex I assembly factor through association with the MCIA complex.
Molecular and cellular biology34(5)847-61(2014 Mar)
Guarani V,Paulo J,Zhai B,Huttlin EL,Gygi SP,Harper JW

Replacement of the C6ORF66 assembly factor (NDUFAF4) restores complex I activity in patient cells.
Molecular medicine (Cambridge, Mass.)19124-34(2013 Jul)
Marcus D,Lichtenstein M,Saada A,Lorberboum-Galski H

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NDUFAF4 cDNA ORF clone, Homo sapiens(human)

Gene

Clones

gRNAs

Related articles in PubMed

Target ORF information:

Target ORF information:

ORF Insert Sequence:

Target ORF information:

Target ORF information:

ORF Insert Sequence:

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