Human Gene BOLA3 (uc002skd.1) Description and Page Index
  Description: Homo sapiens bolA homolog 3 (E. coli) (BOLA3), transcript variant 2, mRNA.
RefSeq Summary (NM_001035505): This gene encodes a protein that plays an essential role in the production of iron-sulfur (Fe-S) clusters for the normal maturation of lipoate-containing 2-oxoacid dehydrogenases, and for the assembly of the mitochondrial respiratory chain complexes. Mutation in this gene has been associated with multiple mitochondrial dysfunctions syndrome-2. Two alternatively spliced transcript variants encoding different isoforms with distinct subcellular localization have been reported for this gene (PMID:21944046). [provided by RefSeq, Dec 2011].
Transcript (Including UTRs)
   Position: hg19 chr2:74,362,528-74,375,039 Size: 12,512 Total Exon Count: 3 Strand: -
Coding Region
   Position: hg19 chr2:74,362,649-74,375,001 Size: 12,353 Coding Exon Count: 3 

Page IndexSequence and LinksGenetic AssociationsMalaCardsCTDGene Alleles
RNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther SpeciesmRNA Descriptions
Other NamesModel InformationMethods
Data last updated: 2013-06-14

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr2:74,362,528-74,375,039)mRNA (may differ from genome)Protein (101 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
BioGPSCGAPEnsemblEntrez GeneExonPrimerGeneCards
GeneNetworkH-INVHGNCLynxMGIOMIM
PubMedStanford SOURCETreefamUniProtKB

-  Genetic Association Studies of Complex Diseases and Disorders
  Genetic Association Database (archive): BOLA3
CDC HuGE Published Literature: BOLA3

-  MalaCards Disease Associations
  MalaCards Gene Search: BOLA3
Diseases sorted by gene-association score: multiple mitochondrial dysfunctions syndrome 2 with hyperglycinemia* (1580), multiple mitochondrial dysfunctions syndrome 2* (541), multiple mitochondrial dysfunctions syndrome (50), alcohol-related neurodevelopmental disorder (11), glycine encephalopathy (5)
* = Manually curated disease association

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

+  Common Gene Haplotype Alleles
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-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 39.69 RPKM in Cells - EBV-transformed lymphocytes
Total median expression: 783.92 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
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-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -17.7038-0.466 Picture PostScript Text
3' UTR -13.40121-0.111 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  ModBase Predicted Comparative 3D Structure on G3XAB0
FrontTopSide
The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologNo orthologNo orthologNo orthologNo orthologNo ortholog
Gene Details     
Gene Sorter     
      
      
      

-  Descriptions from all associated GenBank mRNAs
  BC017744 - Homo sapiens bolA-like 3 (E. coli), mRNA (cDNA clone IMAGE:4392561).
BC028282 - Homo sapiens bolA homolog 3 (E. coli), mRNA (cDNA clone IMAGE:5184164), partial cds.
BC046531 - Homo sapiens bolA homolog 3 (E. coli), mRNA (cDNA clone IMAGE:5314816), with apparent retained intron.
BC042036 - Homo sapiens bolA homolog 3 (E. coli), mRNA (cDNA clone IMAGE:4829356).
DQ225187 - Homo sapiens bolA-like 3 (BOLA3) mRNA, complete cds.
BC148671 - Synthetic construct Homo sapiens clone IMAGE:100015575, MGC:183100 bolA homolog 3 (E. coli) (BOLA3) mRNA, encodes complete protein.
BC153208 - Synthetic construct Homo sapiens clone IMAGE:100016571, MGC:184338 bolA homolog 3 (E. coli) (BOLA3) mRNA, encodes complete protein.

-  Other Names for This Gene
  Alternate Gene Symbols: G3XAB0, G3XAB0_HUMAN, hCG_1988269, NM_001035505, NP_001030582
UCSC ID: uc002skd.1
RefSeq Accession: NM_001035505
Protein: G3XAB0 CCDS: CCDS33224.1

-  Gene Model Information
 
category: coding nonsense-mediated-decay: no RNA accession: NM_001035505.1
exon count: 3CDS single in 3' UTR: no RNA size: 465
ORF size: 306CDS single in intron: no Alignment % ID: 100.00
txCdsPredict score: 812.00frame shift in genome: no % Coverage: 100.00
has start codon: yes stop codon in genome: no # of Alignments: 1
has end codon: yes retained intron: no # AT/AC introns 0
selenocysteine: no end bleed into intron: 0# strange splices: 0
Click here for a detailed description of the fields of the table above.

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.