This gene encodes a component of the iron-sulfur (Fe-S) cluster scaffold. Fe-S clusters are cofactors that play a role in the function of a diverse set of enzymes, including those that regulate metabolism, iron homeostasis, and oxidative stress response. Alternative splicing results in transcript variants encoding different protein isoforms that localize either to the cytosol or to the mitochondrion. Mutations in this gene have been found in patients with hereditary myopathy with lactic acidosis. A disease-associated mutation in an intron may activate a cryptic splice site, resulting in the production of a splice variant encoding a putatively non-functional protein. A pseudogene of this gene is present on chromosome 1. [provided by RefSeq, Feb 2016].
The following ISCU gene cDNA ORF clone sequences were retrieved from the NCBI Reference Sequence Database (RefSeq). These sequences represent the protein coding region of the ISCU 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 AK057251.1, BC011906.2 and BQ020993.1. On Jul 23, 2014 this sequence version replaced NM_213595.2.
Transcript Variant: This variant (2) encodes the longest isoform (2). Isoform 2 is localized to the mitochondrion.
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 :: SRR1163655.584534.1, SRR1163658.132578.1 [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. :: inferred from homology
RefSeq Select criteria :: based on conservation, expression, longest protein
##RefSeq-Attributes-END##
COMPLETENESS: complete on the 3' end.
Comment: REVIEWED REFSEQ: This record has been curated by NCBI staff. The reference sequence was derived from AK057251.1, AY009127.1 and BQ020993.1. This sequence is a reference standard in the RefSeqGene project. On Jul 23, 2014 this sequence version replaced NM_014301.3.
Transcript Variant: This variant (1) contains an alternate exon in the 5' region and initiates translation at an alternate start codon compared to variant 2. The encoded isoform (1) has a distinct, shorter N-terminus, compared to isoform 2. Isoform 1 is localized to the cytosol.
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 :: AY009127.1, SRR1163658.280581.1 [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. :: inferred from homology
##RefSeq-Attributes-END##
COMPLETENESS: complete on the 3' end.
Comment: REVIEWED REFSEQ: This record has been curated by NCBI staff. The reference sequence was derived from AK057251.1, BG702203.1 and BQ020993.1.
Transcript Variant: This variant (3) contains an alternate exon in the 3' region, resulting in a different 3' coding region and 3' UTR, compared to variant 2. Variants 3 and 5 encode the same protein (isoform 3), which has a distinct, shorter C-terminus, compared to isoform 2. Isoform 3 may not be stable (PMID:23035118). This variant may be preferentially produced in individuals containing an alternate intronic C vs G (rs767000507), which activates a cryptic splice acceptor site. The alternate C allele is associated with myopathy (PMIDs 18296749, 18304497).
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 :: SRR1163655.373269.1, BG702203.1 [ECO:0000332]
RNAseq introns :: single sample supports all introns SAMEA1965299, SAMEA1968540 [ECO:0000348]
##Evidence-Data-END##
##RefSeq-Attributes-START##
gene product(s) localized to mito. :: inferred from homology
##RefSeq-Attributes-END##
COMPLETENESS: complete on the 3' end.
Comment: REVIEWED REFSEQ: This record has been curated by NCBI staff. The reference sequence was derived from AK057251.1, AK297862.1, HY269565.1 and BC061903.1. On Feb 10, 2016 this sequence version replaced XM_005268761.3.
Transcript Variant: This variant (5) uses an alternate splice site in the 3' region, resulting in a different 3' coding region and 3' UTR, compared to variant 2. Variants 3 and 5 encode the same protein (isoform 3), which has a distinct, shorter C-terminus, compared to isoform 2. Isoform 3 may not be stable (PMID:23035118). This variant may be preferentially produced in individuals containing an alternate intronic C vs G (rs767000507), which activates a cryptic splice acceptor site. The alternate C allele is associated with myopathy (PMIDs 18296749, 18304497).
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 :: SRR1803614.184875.1, SRR1660807.19899.1 [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. :: inferred from homology
##RefSeq-Attributes-END##
COMPLETENESS: complete on the 3' end.
Comment: REVIEWED REFSEQ: This record has been curated by NCBI staff. The reference sequence was derived from AK057251.1, AC008119.6 and BQ020993.1. On Jul 23, 2014 this sequence version replaced XM_005268760.1.
Transcript Variant: This variant (4) contains an alternate exon in the 3' region, resulting in a different 3' coding region and 3' UTR, compared to variant 2. The encoded isoform (4) has a distinct, shorter C-terminus, compared to isoform 2.
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 :: AK057251.1 [ECO:0000332]
RNAseq introns :: single sample supports all introns SAMEA1965299, SAMEA1968540 [ECO:0000348]
##Evidence-Data-END##
##RefSeq-Attributes-START##
gene product(s) localized to mito. :: inferred from homology
##RefSeq-Attributes-END##
COMPLETENESS: complete on the 3' end.
Comment: MODEL REFSEQ: This record is predicted by automated computational analysis. This record is derived from a genomic sequence (NC_000012.12) annotated using gene prediction method: Gnomon, supported by mRNA and EST evidence. Also see: Documentation of NCBI's Annotation Process
On Jun 6, 2016 this sequence version replaced XM_011538100.1.
##Genome-Annotation-Data-START##
Annotation Provider :: NCBI
Annotation Status :: Updated annotation
Annotation Name :: Homo sapiens Updated Annotation Release 109.20191205
Annotation Version :: 109.20191205
Annotation Pipeline :: NCBI eukaryotic genome annotation pipeline
Annotation Software Version :: 8.3
Annotation Method :: Best-placed RefSeq; propagated RefSeq model
Features Annotated :: Gene; mRNA; CDS; ncRNA
##Genome-Annotation-Data-END##
Comment: MODEL REFSEQ: This record is predicted by automated computational analysis. This record is derived from a genomic sequence (NC_000012.12) annotated using gene prediction method: Gnomon, supported by EST evidence. Also see: Documentation of NCBI's Annotation Process
On Jun 6, 2016 this sequence version replaced XM_011538101.1.
##Genome-Annotation-Data-START##
Annotation Provider :: NCBI
Annotation Status :: Updated annotation
Annotation Name :: Homo sapiens Updated Annotation Release 109.20191205
Annotation Version :: 109.20191205
Annotation Pipeline :: NCBI eukaryotic genome annotation pipeline
Annotation Software Version :: 8.3
Annotation Method :: Best-placed RefSeq; propagated RefSeq model
Features Annotated :: Gene; mRNA; CDS; ncRNA
##Genome-Annotation-Data-END##
User Manual
NM_213595.3
