IBA57 cDNA ORF clone, Homo sapiens(human)

Gene
Clones
gRNAs

Summary

Gene Symbol	IBA57
Entrez Gene ID	200205
Full Name	IBA57, iron-sulfur cluster assembly
Synonyms	C1orf69,MMDS3,SPG74
General protein information	Preferred Names IBA57, iron-sulfur cluster assembly Names putative transferase CAF17, mitochondrial IBA57 homolog, iron-sulfur cluster assembly IBA57, iron-sulfur cluster assembly homolog iron-sulfur cluster assembly factor for biotin synthase- and aconitase-like mitochondrial proteins, with a mass of 57kDa putative transferase C1orf69, mitochondrial
Gene Type	protein-coding
Organism	Homo sapiens(human)
Genome	Chromosome: 1 Map Location: 1q42.13
Summary	The protein encoded by this gene localizes to the mitochondrion and is part of the iron-sulfur cluster assembly pathway. The encoded protein functions late in the biosynthesis of mitochondrial 4Fe-4S proteins. Defects in this gene have been associated with autosomal recessive spastic paraplegia-74 and with multiple mitochondrial dysfunctions syndrome-3. Two transcript variants encoding different isoforms have been found for this gene. The smaller isoform is not likely to be localized to the mitochondrion since it lacks the amino-terminal transit peptide. [provided by RefSeq, Jul 2015].
Disorder MIM:	615316
Disorder Html:	?Multiple mitochondrial dysfunctions syndrome 3, 615330 (3); ?Spastic paraplegia 74, autosomal recessive, 616451 (3)

mRNA and Protein(s)

mRNA	Protein	Name
NM_001310327.2	NP_001297256.1	putative transferase CAF17, mitochondrial isoform 2
NM_001310327.1	NP_001297256.1	putative transferase CAF17, mitochondrial isoform 2
NM_001010867.3	NP_001010867.1	putative transferase CAF17, mitochondrial isoform 1 precursor
NM_001010867.4	NP_001010867.1	putative transferase CAF17, mitochondrial isoform 1 precursor

Pathways from BioSystems

Homologies

Homo sapiens (human)	IBA57	NP_001010867.1
Danio rerio (zebrafish)	iba57	NP_001070103.2
Drosophila melanogaster (fruit fly)	CG8043	NP_649814.1
Magnaporthe oryzae (rice blast fungus)	MGG_06485	XP_003717075.1
Arabidopsis thaliana (thale cress)	AT4G12130	NP_192950.2
	IBA57	XP_001083460.1
Rattus norvegicus (Norway rat)	Iba57	NP_001102297.1
Gallus gallus (chicken)	IBA57	NP_001026129.2
Schizosaccharomyces pombe (fission yeast)	SPAC21E11.07	NP_594504.1
Pan troglodytes (chimpanzee)	IBA57	XP_514253.2
Bos taurus (cattle)	IBA57	NP_001192509.1
Mus musculus (house mouse)	Iba57	NP_776146.1
Caenorhabditis elegans (roundworm)	CELE_F39H2.3	NP_492346.2
Neurospora crassa	NCU06424	XP_957315.1
Oryza sativa (rice)	Os06g0134800	NP_001056718.1
Xenopus tropicalis (tropical clawed frog)	iba57	XP_002939357.1

Gene Ontology
Bibliography

Related articles in PubMed

Phenotypic spectrum of mutations in IBA57, a candidate gene for cavitating leukoencephalopathy.
Liu M, Zhang J, Zhang Z, Zhou L, Jiang Y, Wang J, Xiao J, Wu Y
Clinical genetics(2017 Jul)

Novel mutations in IBA57 are associated with leukodystrophy and variable clinical phenotypes.
Torraco A, Ardissone A, Invernizzi F, Rizza T, Fiermonte G, Niceta M, Zanetti N, Martinelli D, Vozza A, Verrigni D, Di Nottia M, Lamantea E, Diodato D, Tartaglia M, Dionisi-Vici C, Moroni I, Farina L, Bertini E, Ghezzi D, Carrozzo R
Journal of neurology264(1)102-111(2017 Jan)

Mutation of the iron-sulfur cluster assembly gene IBA57 causes fatal infantile leukodystrophy.
Debray FG, St?mpfig C, Vanlander AV, Dideberg V, Josse C, Caberg JH, Boemer F, Bours V, Stevens R, Seneca S, Smet J, Lill R, van Coster R
Journal of inherited metabolic disease38(6)1147-53(2015 Nov)

Fe/S protein assembly gene IBA57 mutation causes hereditary spastic paraplegia.
Lossos A, St?mpfig C, Stevanin G, Gaussen M, Zimmerman BE, Mundwiller E, Asulin M, Chamma L, Sheffer R, Misk A, Dotan S, Gomori JM, Ponger P, Brice A, Lerer I, Meiner V, Lill R
Neurology84(7)659-67(2015 Feb)

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

Description of four unrelated patients carrying novel mutations in IBA57; study expands the array of the genotypic variation of IBA57 and delineates the leukodystrophic pattern of IBA57 deficient patients
Title: Novel mutations in IBA57 are associated with leukodystrophy and variable clinical phenotypes.

Findings reinforce the suggested specific function of IBA57 in mitochondrial [4Fe-4S] protein maturation and provide additional evidence for its role in hereditary spastic paraplegia
Title: Fe/S protein assembly gene IBA57 mutation causes hereditary spastic paraplegia.

Mutation of the iron-sulfur cluster assembly gene IBA57 causes severe myopathy and encephalopathy.
Title: Mutation of the iron-sulfur cluster assembly gene IBA57 causes severe myopathy and encephalopathy.

ISCA1, ISCA2, and IBA57 were depleted by RNA interference. Depleted cells contained massively swollen and enlarged mitochondria that were virtually devoid of cristae membranes, demonstrating the importance of these proteins for mitochondrial biogenesis.
Title: The human mitochondrial ISCA1, ISCA2, and IBA57 proteins are required for [4Fe-4S] protein maturation.

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

The following IBA57 gene cDNA ORF clone sequences were retrieved from the NCBI Reference Sequence Database (RefSeq). These sequences represent the protein coding region of the IBA57 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)
OHu77642	NM_001310327.2 Latest version!	Homo sapiens iron-sulfur cluster assembly factor IBA57 (IBA57), transcript variant 2, mRNA.	pcDNA3.1-C-(k)DYK or customized vector	in pcDNA3.1-C-(k)DYK	$49.50-$69.30 $99.00
OHu29124	NM_001010867.4 Latest version!	Homo sapiens iron-sulfur cluster assembly factor IBA57 (IBA57), transcript variant 1, mRNA.	pcDNA3.1-C-(k)DYK or customized vector	TBD	$209.30 $299.00
View Old Accession Versions >>
OHu77642	NM_001310327.1	Homo sapiens iron-sulfur cluster assembly factor IBA57 (IBA57), transcript variant 2, mRNA.	pcDNA3.1-C-(k)DYK or customized vector	in pcDNA3.1-C-(k)DYK	$49.50-$69.30 $99.00
OHu29124	NM_001010867.3	Homo sapiens IBA57, iron-sulfur cluster assembly (IBA57), transcript variant 1, mRNA.	pcDNA3.1-C-(k)DYK or customized vector	TBD	$209.30 $299.00
Hide Old Accession Versions >>

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** 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)

IBA57 ( NM_001310327.2 ) cDNA ORF clone, Homo sapiens(human) -> NP_001297256.1 Homo sapiens iron-sulfur cluster assembly factor IBA57 (IBA57), transcript variant 2, mRNA.

Price & Availability↑

CloneID	OHu77642
Clone ID Related Accession (Same CDS sequence)	NM_001310327.2 , NM_001310327.1
Accession Version	NM_001310327.2 Latest version!	Documents for ORF clone product in default vector
Sequence Information	ORF Nucleotide Sequence (Length: 492bp) 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	2019-08-07
Organism	Homo sapiens(human)
Product	putative transferase CAF17, mitochondrial isoform 2
Comment	Comment: REVIEWED REFSEQ: This record has been curated by NCBI staff. The reference sequence was derived from AK303837.1 and AL359510.24. On Jun 1, 2019 this sequence version replaced NM_001310327.1. Transcript Variant: This variant (2) uses an alternate first exon and initiates translation from a downstream in-frame start codon compared to variant 1. The resulting isoform (2) is shorter at the N-terminus compared to isoform 1. 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 :: AK303837.1, BI824636.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA1965299, SAMEA1968968 [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.

ATGGGGTGGC GGCTCCTCAC CCAGGATGAA GGCCCAGCCC TGGTGCCCGG GGGCCGGCTC 
GGGGACTTGT GGGATTATCA CCAGCACCGA TACCTGCAAG GCGTTCCTGA GGGGGTCCGA 
GACTTGCCTC CTGGGGTGGC CCTGCCCCTG GAGTCCAACC TGGCCTTCAT GAACGGCGTG 
AGCTTCACCA AAGGCTGCTA CATTGGCCAG GAGCTGACGG CCCGCACCCA CCACATGGGC 
GTCATCCGCA AGCGCCTCTT CCCTGTCCGG TTCTTGGACC CCCTTCCCAC CAGTGGCATC 
ACCCCTGGTG CCACGGTGCT GACTGCCTCA GGACAGACTG TGGGCAAGTT CAGGGCTGGC 
CAGGGCAACG TGGGGCTGGC CCTGCTGTGG TCAGAGAAGA TCAAGGGTCC TCTGCACATC 
AGAGCCTCTG AGGGTGCCCA GGTGGCCTTA GCCGCATCTG TGCCAGACTG GTGGCCTACA 
GTCTCCAAGT AG

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

RefSeq	NP_001297256.1
CDS	280..771
Translation	MGWRLLTQDEGPALVPGGRLGDLWDYHQHRYLQGVPEGVRDLPPGVALPLESNLAFMNGVSFTKGCYIGQELTARTHHMGVIRKRLFPVRFLDPLPTSGITPGATVLTASGQTVGKFRAGQGNVGLALLWSEKIKGPLHIRASEGAQVALAASVPDWWPTVSK

Target ORF information:

RefSeq Version	NM_001310327.2
Organism	Homo sapiens(human)
Definition	Homo sapiens iron-sulfur cluster assembly factor IBA57 (IBA57), transcript variant 2, mRNA.

Target ORF information:

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

NM_001310327.2

ORF Insert Sequence:

ATGGGGTGGC GGCTCCTCAC CCAGGATGAA GGCCCAGCCC TGGTGCCCGG GGGCCGGCTC 
GGGGACTTGT GGGATTATCA CCAGCACCGA TACCTGCAAG GCGTTCCTGA GGGGGTCCGA 
GACTTGCCTC CTGGGGTGGC CCTGCCCCTG GAGTCCAACC TGGCCTTCAT GAACGGCGTG 
AGCTTCACCA AAGGCTGCTA CATTGGCCAG GAGCTGACGG CCCGCACCCA CCACATGGGC 
GTCATCCGCA AGCGCCTCTT CCCTGTCCGG TTCTTGGACC CCCTTCCCAC CAGTGGCATC 
ACCCCTGGTG CCACGGTGCT GACTGCCTCA GGACAGACTG TGGGCAAGTT CAGGGCTGGC 
CAGGGCAACG TGGGGCTGGC CCTGCTGTGG TCAGAGAAGA TCAAGGGTCC TCTGCACATC 
AGAGCCTCTG AGGGTGCCCA GGTGGCCTTA GCCGCATCTG TGCCAGACTG GTGGCCTACA 
GTCTCCAAGT AG

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

IBA57 ( NM_001310327.1 ) cDNA ORF clone, Homo sapiens(human) -> NP_001297256.1 Homo sapiens iron-sulfur cluster assembly factor IBA57 (IBA57), transcript variant 2, mRNA.

Price & Availability↑

CloneID	OHu77642
Clone ID Related Accession (Same CDS sequence)	NM_001310327.2 , NM_001310327.1
Accession Version	NM_001310327.1	Documents for ORF clone product in default vector
Sequence Information	ORF Nucleotide Sequence (Length: 492bp) 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	2019-02-24
Organism	Homo sapiens(human)
Product	putative transferase CAF17, mitochondrial isoform 2
Comment	Comment: REVIEWED REFSEQ: This record has been curated by NCBI staff. The reference sequence was derived from AK303837.1 and AL359510.24. On Jul 10, 2015 this sequence version replaced XM_011544131.1. Transcript Variant: This variant (2) uses an alternate first exon and initiates translation from a downstream in-frame start codon compared to variant 1. The resulting isoform (2) is shorter at the N-terminus compared to isoform 1. 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. ##Evidence-Data-START## Transcript exon combination :: AK303837.1, BI824636.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA1965299, SAMEA1968968 [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.

ATGGGGTGGC GGCTCCTCAC CCAGGATGAA GGCCCAGCCC TGGTGCCCGG GGGCCGGCTC 
GGGGACTTGT GGGATTATCA CCAGCACCGA TACCTGCAAG GCGTTCCTGA GGGGGTCCGA 
GACTTGCCTC CTGGGGTGGC CCTGCCCCTG GAGTCCAACC TGGCCTTCAT GAACGGCGTG 
AGCTTCACCA AAGGCTGCTA CATTGGCCAG GAGCTGACGG CCCGCACCCA CCACATGGGC 
GTCATCCGCA AGCGCCTCTT CCCTGTCCGG TTCTTGGACC CCCTTCCCAC CAGTGGCATC 
ACCCCTGGTG CCACGGTGCT GACTGCCTCA GGACAGACTG TGGGCAAGTT CAGGGCTGGC 
CAGGGCAACG TGGGGCTGGC CCTGCTGTGG TCAGAGAAGA TCAAGGGTCC TCTGCACATC 
AGAGCCTCTG AGGGTGCCCA GGTGGCCTTA GCCGCATCTG TGCCAGACTG GTGGCCTACA 
GTCTCCAAGT AG

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

RefSeq	NP_001297256.1
CDS	300..791
Translation	MGWRLLTQDEGPALVPGGRLGDLWDYHQHRYLQGVPEGVRDLPPGVALPLESNLAFMNGVSFTKGCYIGQELTARTHHMGVIRKRLFPVRFLDPLPTSGITPGATVLTASGQTVGKFRAGQGNVGLALLWSEKIKGPLHIRASEGAQVALAASVPDWWPTVSK

Target ORF information:

RefSeq Version	NM_001310327.1
Organism	Homo sapiens(human)
Definition	Homo sapiens iron-sulfur cluster assembly factor IBA57 (IBA57), transcript variant 2, mRNA.

Target ORF information:

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

NM_001310327.1

ORF Insert Sequence:

ATGGGGTGGC GGCTCCTCAC CCAGGATGAA GGCCCAGCCC TGGTGCCCGG GGGCCGGCTC 
GGGGACTTGT GGGATTATCA CCAGCACCGA TACCTGCAAG GCGTTCCTGA GGGGGTCCGA 
GACTTGCCTC CTGGGGTGGC CCTGCCCCTG GAGTCCAACC TGGCCTTCAT GAACGGCGTG 
AGCTTCACCA AAGGCTGCTA CATTGGCCAG GAGCTGACGG CCCGCACCCA CCACATGGGC 
GTCATCCGCA AGCGCCTCTT CCCTGTCCGG TTCTTGGACC CCCTTCCCAC CAGTGGCATC 
ACCCCTGGTG CCACGGTGCT GACTGCCTCA GGACAGACTG TGGGCAAGTT CAGGGCTGGC 
CAGGGCAACG TGGGGCTGGC CCTGCTGTGG TCAGAGAAGA TCAAGGGTCC TCTGCACATC 
AGAGCCTCTG AGGGTGCCCA GGTGGCCTTA GCCGCATCTG TGCCAGACTG GTGGCCTACA 
GTCTCCAAGT AG

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

IBA57 ( NM_001010867.3 ) cDNA ORF clone, Homo sapiens(human) -> NP_001010867.1 Homo sapiens IBA57, iron-sulfur cluster assembly (IBA57), transcript variant 1, mRNA.

Price & Availability↑

CloneID	OHu29124
Clone ID Related Accession (Same CDS sequence)	NM_001010867.3 , NM_001010867.4
Accession Version	NM_001010867.3	Documents for ORF clone product in default vector
Sequence Information	ORF Nucleotide Sequence (Length: 1071bp) 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	2017-12-15
Organism	Homo sapiens(human)
Product	putative transferase CAF17, mitochondrial isoform 1 precursor
Comment	Comment: REVIEWED REFSEQ: This record has been curated by NCBI staff. The reference sequence was derived from HY081013.1, BI820993.1 and AL359510.24. This sequence is a reference standard in the RefSeqGene project. On Jul 10, 2015 this sequence version replaced NM_001010867.2. Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1). Sequence Note: The RefSeq transcript and protein were derived from transcript and genomic sequence to make the sequence consistent with the reference genome assembly. The genomic coordinates used for the transcript record were based on alignments. ##Evidence-Data-START## Transcript exon combination :: SRR1163655.527695.1, SRR1163657.436495.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA1968189, SAMEA1968540 [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.

ATGGCGACCG CGGCGCTGCT TCGAGGCGCC ACTCCGGGGC GCGGCGGCCC GGTCTGGCGC 
TGGCGGCTGC GCGCGGCCCC AAGGTGCCGC CTGGCCCACA GCTCCTGCAG TCCTGGTGGC 
GACCCAACGG CCGGAGCGGC CTGGGCCTGC TTCCGGCTGG ACGGGCGCAC CCTGCTGCGC 
GTGCGTGGCC CCGACGCGGC GCCCTTCCTG CTAGGGCTGC TGACCAATGA ACTGCCGCTT 
CCGAGTCCTG CGGCCGCGGG GGCCCCGCCT GCTGCGCGCG CGGGCTACGC CCACTTCCTG 
AACGTGCAGG GCCGGACGCT CTATGACGTC ATCTTGTACG GGCTCCAGGA ACACTCGGAG 
GTGTCTGGCT TCCTTCTGGA GTGTGACAGC TCGGTGCAGG GCGCGCTGCA GAAGCACCTC 
GCGCTATACA GGATCCGGCG GAAGGTCACG GTGGAGCCGC ACCCGGAGCT GCGAGTGTGG 
GCGGTGTTGC CCAGTTCCCC TGAGGCCTGC GGGGCTGCAT CGCTGCAGGA GAGGGCAGGG 
GCTGCCGCCA TCCTCATCCG CGACCCGCGA ACAGCACGCA TGGGGTGGCG GCTCCTCACC 
CAGGATGAAG GCCCAGCCCT GGTGCCCGGG GGCCGGCTCG GGGACTTGTG GGATTATCAC 
CAGCACCGAT ACCTGCAAGG CGTTCCTGAG GGGGTCCGAG ACTTGCCTCC TGGGGTGGCC 
CTGCCCCTGG AGTCCAACCT GGCCTTCATG AACGGCGTGA GCTTCACCAA AGGCTGCTAC 
ATTGGCCAGG AGCTGACGGC CCGCACCCAC CACATGGGCG TCATCCGCAA GCGCCTCTTC 
CCTGTCCGGT TCTTGGACCC CCTTCCCACC AGTGGCATCA CCCCTGGTGC CACGGTGCTG 
ACTGCCTCAG GACAGACTGT GGGCAAGTTC AGGGCTGGCC AGGGCAACGT GGGGCTGGCC 
CTGCTGTGGT CAGAGAAGAT CAAGGGTCCT CTGCACATCA GAGCCTCTGA GGGTGCCCAG 
GTGGCCTTAG CCGCATCTGT GCCAGACTGG TGGCCTACAG TCTCCAAGTA G

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

RefSeq	NP_001010867.1
CDS	10..1080
Translation	MATAALLRGATPGRGGPVWRWRLRAAPRCRLAHSSCSPGGDPTAGAAWACFRLDGRTLLRVRGPDAAPFLLGLLTNELPLPSPAAAGAPPAARAGYAHFLNVQGRTLYDVILYGLQEHSEVSGFLLECDSSVQGALQKHLALYRIRRKVTVEPHPELRVWAVLPSSPEACGAASLQERAGAAAILIRDPRTARMGWRLLTQDEGPALVPGGRLGDLWDYHQHRYLQGVPEGVRDLPPGVALPLESNLAFMNGVSFTKGCYIGQELTARTHHMGVIRKRLFPVRFLDPLPTSGITPGATVLTASGQTVGKFRAGQGNVGLALLWSEKIKGPLHIRASEGAQVALAASVPDWWPTVSK

Target ORF information:

RefSeq Version	NM_001010867.3
Organism	Homo sapiens(human)
Definition	Homo sapiens IBA57, iron-sulfur cluster assembly (IBA57), transcript variant 1, mRNA.

Target ORF information:

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

NM_001010867.3

ORF Insert Sequence:

ATGGCGACCG CGGCGCTGCT TCGAGGCGCC ACTCCGGGGC GCGGCGGCCC GGTCTGGCGC 
TGGCGGCTGC GCGCGGCCCC AAGGTGCCGC CTGGCCCACA GCTCCTGCAG TCCTGGTGGC 
GACCCAACGG CCGGAGCGGC CTGGGCCTGC TTCCGGCTGG ACGGGCGCAC CCTGCTGCGC 
GTGCGTGGCC CCGACGCGGC GCCCTTCCTG CTAGGGCTGC TGACCAATGA ACTGCCGCTT 
CCGAGTCCTG CGGCCGCGGG GGCCCCGCCT GCTGCGCGCG CGGGCTACGC CCACTTCCTG 
AACGTGCAGG GCCGGACGCT CTATGACGTC ATCTTGTACG GGCTCCAGGA ACACTCGGAG 
GTGTCTGGCT TCCTTCTGGA GTGTGACAGC TCGGTGCAGG GCGCGCTGCA GAAGCACCTC 
GCGCTATACA GGATCCGGCG GAAGGTCACG GTGGAGCCGC ACCCGGAGCT GCGAGTGTGG 
GCGGTGTTGC CCAGTTCCCC TGAGGCCTGC GGGGCTGCAT CGCTGCAGGA GAGGGCAGGG 
GCTGCCGCCA TCCTCATCCG CGACCCGCGA ACAGCACGCA TGGGGTGGCG GCTCCTCACC 
CAGGATGAAG GCCCAGCCCT GGTGCCCGGG GGCCGGCTCG GGGACTTGTG GGATTATCAC 
CAGCACCGAT ACCTGCAAGG CGTTCCTGAG GGGGTCCGAG ACTTGCCTCC TGGGGTGGCC 
CTGCCCCTGG AGTCCAACCT GGCCTTCATG AACGGCGTGA GCTTCACCAA AGGCTGCTAC 
ATTGGCCAGG AGCTGACGGC CCGCACCCAC CACATGGGCG TCATCCGCAA GCGCCTCTTC 
CCTGTCCGGT TCTTGGACCC CCTTCCCACC AGTGGCATCA CCCCTGGTGC CACGGTGCTG 
ACTGCCTCAG GACAGACTGT GGGCAAGTTC AGGGCTGGCC AGGGCAACGT GGGGCTGGCC 
CTGCTGTGGT CAGAGAAGAT CAAGGGTCCT CTGCACATCA GAGCCTCTGA GGGTGCCCAG 
GTGGCCTTAG CCGCATCTGT GCCAGACTGG TGGCCTACAG TCTCCAAGTA G

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

IBA57 ( NM_001010867.4 ) cDNA ORF clone, Homo sapiens(human) -> NP_001010867.1 Homo sapiens iron-sulfur cluster assembly factor IBA57 (IBA57), transcript variant 1, mRNA.

Price & Availability↑

CloneID	OHu29124
Clone ID Related Accession (Same CDS sequence)	NM_001010867.3 , NM_001010867.4
Accession Version	NM_001010867.4 Latest version!	Documents for ORF clone product in default vector
Sequence Information	ORF Nucleotide Sequence (Length: 1071bp) 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	2019-08-21
Organism	Homo sapiens(human)
Product	putative transferase CAF17, mitochondrial isoform 1 precursor
Comment	Comment: REVIEWED REFSEQ: This record has been curated by NCBI staff. The reference sequence was derived from AL359510.24, HY081013.1 and BI820993.1. This sequence is a reference standard in the RefSeqGene project. On Nov 22, 2018 this sequence version replaced NM_001010867.3. Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1). Sequence Note: The RefSeq transcript and protein were derived from transcript and genomic sequence to make the sequence consistent with the reference genome assembly. The genomic coordinates used for the transcript record were based on 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 :: SRR3476690.402822.1, SRR1163655.527695.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA1968189, SAMEA1968540 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## gene product(s) localized to mito. :: reported by MitoCarta MANE Ensembl match :: ENST00000366711.4/ ENSP00000355672.3 RefSeq Select criteria :: based on conservation, expression, longest protein ##RefSeq-Attributes-END## COMPLETENESS: full length.

ATGGCGACCG CGGCGCTGCT TCGAGGCGCC ACTCCGGGGC GCGGCGGCCC GGTCTGGCGC 
TGGCGGCTGC GCGCGGCCCC AAGGTGCCGC CTGGCCCACA GCTCCTGCAG TCCTGGTGGC 
GACCCAACGG CCGGAGCGGC CTGGGCCTGC TTCCGGCTGG ACGGGCGCAC CCTGCTGCGC 
GTGCGTGGCC CCGACGCGGC GCCCTTCCTG CTAGGGCTGC TGACCAATGA ACTGCCGCTT 
CCGAGTCCTG CGGCCGCGGG GGCCCCGCCT GCTGCGCGCG CGGGCTACGC CCACTTCCTG 
AACGTGCAGG GCCGGACGCT CTATGACGTC ATCTTGTACG GGCTCCAGGA ACACTCGGAG 
GTGTCTGGCT TCCTTCTGGA GTGTGACAGC TCGGTGCAGG GCGCGCTGCA GAAGCACCTC 
GCGCTATACA GGATCCGGCG GAAGGTCACG GTGGAGCCGC ACCCGGAGCT GCGAGTGTGG 
GCGGTGTTGC CCAGTTCCCC TGAGGCCTGC GGGGCTGCAT CGCTGCAGGA GAGGGCAGGG 
GCTGCCGCCA TCCTCATCCG CGACCCGCGA ACAGCACGCA TGGGGTGGCG GCTCCTCACC 
CAGGATGAAG GCCCAGCCCT GGTGCCCGGG GGCCGGCTCG GGGACTTGTG GGATTATCAC 
CAGCACCGAT ACCTGCAAGG CGTTCCTGAG GGGGTCCGAG ACTTGCCTCC TGGGGTGGCC 
CTGCCCCTGG AGTCCAACCT GGCCTTCATG AACGGCGTGA GCTTCACCAA AGGCTGCTAC 
ATTGGCCAGG AGCTGACGGC CCGCACCCAC CACATGGGCG TCATCCGCAA GCGCCTCTTC 
CCTGTCCGGT TCTTGGACCC CCTTCCCACC AGTGGCATCA CCCCTGGTGC CACGGTGCTG 
ACTGCCTCAG GACAGACTGT GGGCAAGTTC AGGGCTGGCC AGGGCAACGT GGGGCTGGCC 
CTGCTGTGGT CAGAGAAGAT CAAGGGTCCT CTGCACATCA GAGCCTCTGA GGGTGCCCAG 
GTGGCCTTAG CCGCATCTGT GCCAGACTGG TGGCCTACAG TCTCCAAGTA G

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

RefSeq	NP_001010867.1
CDS	14..1084
Translation	MATAALLRGATPGRGGPVWRWRLRAAPRCRLAHSSCSPGGDPTAGAAWACFRLDGRTLLRVRGPDAAPFLLGLLTNELPLPSPAAAGAPPAARAGYAHFLNVQGRTLYDVILYGLQEHSEVSGFLLECDSSVQGALQKHLALYRIRRKVTVEPHPELRVWAVLPSSPEACGAASLQERAGAAAILIRDPRTARMGWRLLTQDEGPALVPGGRLGDLWDYHQHRYLQGVPEGVRDLPPGVALPLESNLAFMNGVSFTKGCYIGQELTARTHHMGVIRKRLFPVRFLDPLPTSGITPGATVLTASGQTVGKFRAGQGNVGLALLWSEKIKGPLHIRASEGAQVALAASVPDWWPTVSK

Target ORF information:

RefSeq Version	NM_001010867.4
Organism	Homo sapiens(human)
Definition	Homo sapiens iron-sulfur cluster assembly factor IBA57 (IBA57), transcript variant 1, mRNA.

Target ORF information:

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

NM_001010867.4

ORF Insert Sequence:

ATGGCGACCG CGGCGCTGCT TCGAGGCGCC ACTCCGGGGC GCGGCGGCCC GGTCTGGCGC 
TGGCGGCTGC GCGCGGCCCC AAGGTGCCGC CTGGCCCACA GCTCCTGCAG TCCTGGTGGC 
GACCCAACGG CCGGAGCGGC CTGGGCCTGC TTCCGGCTGG ACGGGCGCAC CCTGCTGCGC 
GTGCGTGGCC CCGACGCGGC GCCCTTCCTG CTAGGGCTGC TGACCAATGA ACTGCCGCTT 
CCGAGTCCTG CGGCCGCGGG GGCCCCGCCT GCTGCGCGCG CGGGCTACGC CCACTTCCTG 
AACGTGCAGG GCCGGACGCT CTATGACGTC ATCTTGTACG GGCTCCAGGA ACACTCGGAG 
GTGTCTGGCT TCCTTCTGGA GTGTGACAGC TCGGTGCAGG GCGCGCTGCA GAAGCACCTC 
GCGCTATACA GGATCCGGCG GAAGGTCACG GTGGAGCCGC ACCCGGAGCT GCGAGTGTGG 
GCGGTGTTGC CCAGTTCCCC TGAGGCCTGC GGGGCTGCAT CGCTGCAGGA GAGGGCAGGG 
GCTGCCGCCA TCCTCATCCG CGACCCGCGA ACAGCACGCA TGGGGTGGCG GCTCCTCACC 
CAGGATGAAG GCCCAGCCCT GGTGCCCGGG GGCCGGCTCG GGGACTTGTG GGATTATCAC 
CAGCACCGAT ACCTGCAAGG CGTTCCTGAG GGGGTCCGAG ACTTGCCTCC TGGGGTGGCC 
CTGCCCCTGG AGTCCAACCT GGCCTTCATG AACGGCGTGA GCTTCACCAA AGGCTGCTAC 
ATTGGCCAGG AGCTGACGGC CCGCACCCAC CACATGGGCG TCATCCGCAA GCGCCTCTTC 
CCTGTCCGGT TCTTGGACCC CCTTCCCACC AGTGGCATCA CCCCTGGTGC CACGGTGCTG 
ACTGCCTCAG GACAGACTGT GGGCAAGTTC AGGGCTGGCC AGGGCAACGT GGGGCTGGCC 
CTGCTGTGGT CAGAGAAGAT CAAGGGTCCT CTGCACATCA GAGCCTCTGA GGGTGCCCAG 
GTGGCCTTAG CCGCATCTGT GCCAGACTGG TGGCCTACAG TCTCCAAGTA G

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

PubMed

Phenotypic spectrum of mutations in IBA57, a candidate gene for cavitating leukoencephalopathy.
Clinical genetics(2017 Jul)
Liu M,Zhang J,Zhang Z,Zhou L,Jiang Y,Wang J,Xiao J,Wu Y

Novel mutations in IBA57 are associated with leukodystrophy and variable clinical phenotypes.
Journal of neurology264(1)102-111(2017 Jan)
Torraco A,Ardissone A,Invernizzi F,Rizza T,Fiermonte G,Niceta M,Zanetti N,Martinelli D,Vozza A,Verrigni D,Di Nottia M,Lamantea E,Diodato D,Tartaglia M,Dionisi-Vici C,Moroni I,Farina L,Bertini E,Ghezzi D,Carrozzo R

Mutation of the iron-sulfur cluster assembly gene IBA57 causes fatal infantile leukodystrophy.
Journal of inherited metabolic disease38(6)1147-53(2015 Nov)
Debray FG,St?mpfig C,Vanlander AV,Dideberg V,Josse C,Caberg JH,Boemer F,Bours V,Stevens R,Seneca S,Smet J,Lill R,van Coster R

Fe/S protein assembly gene IBA57 mutation causes hereditary spastic paraplegia.
Neurology84(7)659-67(2015 Feb)
Lossos A,St?mpfig C,Stevanin G,Gaussen M,Zimmerman BE,Mundwiller E,Asulin M,Chamma L,Sheffer R,Misk A,Dotan S,Gomori JM,Ponger P,Brice A,Lerer I,Meiner V,Lill R

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IBA57 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:

Target ORF information:

Target ORF information:

ORF Insert Sequence:

Target ORF information:

Target ORF information:

ORF Insert Sequence:

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