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Aliases for BOLA3 Gene

Aliases for BOLA3 Gene

  • BolA Family Member 3 2 3
  • BolA Homolog 3 (E. Coli) 2
  • BolA-Like 3 (E. Coli) 2
  • BolA Homolog 3 3
  • MMDS2 3

External Ids for BOLA3 Gene

Previous GeneCards Identifiers for BOLA3 Gene

  • GC02M074275
  • GC02M074216
  • GC02M074362

Summaries for BOLA3 Gene

Entrez Gene Summary for BOLA3 Gene

  • 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]

GeneCards Summary for BOLA3 Gene

BOLA3 (BolA Family Member 3) is a Protein Coding gene. Diseases associated with BOLA3 include multiple mitochondrial dysfunctions syndrome 2 and fatal multiple mitochondrial dysfunction syndrome type 2.

No data available for UniProtKB/Swiss-Prot , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for BOLA3 Gene

Genomics for BOLA3 Gene

Regulatory Elements for BOLA3 Gene

Epigenetics Products

  • DNA Methylation CpG Assay Predesigned for Pyrosequencing in human,mouse,rat

Genomic Location for BOLA3 Gene

Chromosome:
2
Start:
74,135,398 bp from pter
End:
74,147,994 bp from pter
Size:
12,597 bases
Orientation:
Minus strand

Genomic View for BOLA3 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for BOLA3 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for BOLA3 Gene

Proteins for BOLA3 Gene

  • Protein details for BOLA3 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q53S33-BOLA3_HUMAN
    Recommended name:
    BolA-like protein 3
    Protein Accession:
    Q53S33
    Secondary Accessions:
    • G3XAB0

    Protein attributes for BOLA3 Gene

    Size:
    107 amino acids
    Molecular mass:
    12114 Da
    Quaternary structure:
    No Data Available

    Alternative splice isoforms for BOLA3 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for BOLA3 Gene

Proteomics data for BOLA3 Gene at MOPED

Post-translational modifications for BOLA3 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for BOLA3 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for BOLA3 Gene

Domains & Families for BOLA3 Gene

Protein Domains for BOLA3 Gene

InterPro:
Blocks:
ProtoNet:

Suggested Antigen Peptide Sequences for BOLA3 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q53S33

UniProtKB/Swiss-Prot:

BOLA3_HUMAN :
  • Belongs to the BolA/IbaG family.
Family:
  • Belongs to the BolA/IbaG family.
genes like me logo Genes that share domains with BOLA3: view

No data available for Gene Families for BOLA3 Gene

Function for BOLA3 Gene

Gene Ontology (GO) - Molecular Function for BOLA3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003674 molecular_function ND --
genes like me logo Genes that share ontologies with BOLA3: view

Phenotypes for BOLA3 Gene

GenomeRNAi human phenotypes for BOLA3:
genes like me logo Genes that share phenotypes with BOLA3: view

Animal Model Products

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for BOLA3

In Situ Assay Products

Flow Cytometry Products

No data available for Molecular function , Enzyme Numbers (IUBMB) , Animal Models , Transcription Factor Targets and HOMER Transcription for BOLA3 Gene

Localization for BOLA3 Gene

Subcellular locations from UniProtKB/Swiss-Prot for BOLA3 Gene

Secreted. Note=Could be secreted via a non-classical export pathway.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for BOLA3 Gene COMPARTMENTS Subcellular localization image for BOLA3 gene
Compartment Confidence
extracellular 3
mitochondrion 1

Gene Ontology (GO) - Cellular Components for BOLA3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005575 cellular_component ND --
GO:0005576 extracellular region IEA --
genes like me logo Genes that share ontologies with BOLA3: view

Pathways & Interactions for BOLA3 Gene

SuperPathways for BOLA3 Gene

No Data Available

Interacting Proteins for BOLA3 Gene

Gene Ontology (GO) - Biological Process for BOLA3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0008150 biological_process ND --
genes like me logo Genes that share ontologies with BOLA3: view

No data available for Pathways by source and SIGNOR curated interactions for BOLA3 Gene

Drugs & Compounds for BOLA3 Gene

No Compound Related Data Available

Transcripts for BOLA3 Gene

Unigene Clusters for BOLA3 Gene

BolA homolog 3 (E. coli):
Representative Sequences:

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for BOLA3

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for BOLA3 Gene

No ASD Table

Relevant External Links for BOLA3 Gene

GeneLoc Exon Structure for
BOLA3
ECgene alternative splicing isoforms for
BOLA3

Expression for BOLA3 Gene

mRNA expression in normal human tissues for BOLA3 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for BOLA3 Gene

This gene is overexpressed in Heart (16.6), Testis (13.5), Retina (10.7), Gallbladder (6.9), and Ovary (6.7).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MOPED, and MaxQB for BOLA3 Gene



SOURCE GeneReport for Unigene cluster for BOLA3 Gene Hs.61472

mRNA Expression by UniProt/SwissProt for BOLA3 Gene

Q53S33-BOLA3_HUMAN
Tissue specificity: Widely expressed.
genes like me logo Genes that share expression patterns with BOLA3: view

Primer Products

In Situ Assay Products

No data available for mRNA differential expression in normal tissues and Protein tissue co-expression partners for BOLA3 Gene

Orthologs for BOLA3 Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for BOLA3 Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia BOLA3 35
  • 91.51 (n)
  • 92.45 (a)
BOLA3 36
  • 88 (a)
OneToOne
dog
(Canis familiaris)
Mammalia BOLA3 35
  • 89.31 (n)
  • 91.51 (a)
BOLA3 36
  • 87 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Bola3 35
  • 85.26 (n)
  • 92.63 (a)
Bola3 16
Bola3 36
  • 88 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia BOLA3 35
  • 100 (n)
  • 100 (a)
BOLA3 36
  • 100 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Bola3 35
  • 84.21 (n)
  • 90.53 (a)
oppossum
(Monodelphis domestica)
Mammalia BOLA3 36
  • 74 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia BOLA3 36
  • 68 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia bola3 35
  • 70.24 (n)
  • 72.62 (a)
Str.15194 35
African clawed frog
(Xenopus laevis)
Amphibia Xl.22067 35
zebrafish
(Danio rerio)
Actinopterygii Dr.17192 35
zgc:100870 35
  • 67.36 (n)
  • 71.87 (a)
BOLA3 36
  • 54 (a)
OneToOne
worm
(Caenorhabditis elegans)
Secernentea Y105E8A.11 36
  • 33 (a)
OneToOne
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes AIM1 36
  • 25 (a)
OneToOne
AIM1 38
Species with no ortholog for BOLA3:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • chicken (Gallus gallus)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • platypus (Ornithorhynchus anatinus)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for BOLA3 Gene

ENSEMBL:
Gene Tree for BOLA3 (if available)
TreeFam:
Gene Tree for BOLA3 (if available)

Paralogs for BOLA3 Gene

Pseudogenes.org Pseudogenes for BOLA3 Gene

genes like me logo Genes that share paralogs with BOLA3: view

No data available for Paralogs for BOLA3 Gene

Variants for BOLA3 Gene

Sequence variations from dbSNP and Humsavar for BOLA3 Gene

SNP ID Clin Chr 02 pos Sequence Context AA Info Type MAF
rs702465 -- 74,142,024(-) CTACC(A/T)ATGTT intron-variant
rs702466 -- 74,142,823(-) CCCCT(C/G)GTTCT intron-variant
rs828873 -- 74,141,451(-) CTCCC(A/G)TCCTC intron-variant
rs828874 -- 74,140,284(-) TTCCC(C/T)CCCAC intron-variant
rs828875 -- 74,140,192(-) ATTCT(C/T)CTGCC intron-variant

Structural Variations from Database of Genomic Variants (DGV) for BOLA3 Gene

Variant ID Type Subtype PubMed ID
nsv874286 CNV Loss 21882294
nsv525117 CNV Loss 19592680

Variation tolerance for BOLA3 Gene

Residual Variation Intolerance Score: 64.57% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.64; 13.74% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for BOLA3 Gene

HapMap Linkage Disequilibrium report
BOLA3
Human Gene Mutation Database (HGMD)
BOLA3

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for BOLA3 Gene

Disorders for BOLA3 Gene

MalaCards: The human disease database

(5) MalaCards diseases for BOLA3 Gene - From: OMIM, ClinVar, GeneTests, Orphanet, DISEASES, and GeneCards

UniProtKB/Swiss-Prot

BOLA3_HUMAN
  • Multiple mitochondrial dysfunctions syndrome 2 (MMDS2) [MIM:614299]: A severe disorder of systemic energy metabolism, resulting in weakness, respiratory failure, lack of neurologic development, lactic acidosis, hyperglycinemia and early death. Some patients show failure to thrive, pulmonary hypertension, hypotonia and irritability. Biochemical features include severe combined deficiency of the 2-oxoacid dehydrogenases, defective lipoic acid synthesis and reduction in activity of mitochondrial respiratory chain complexes. {ECO:0000269 PubMed:21944046}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for BOLA3

Genetic Association Database (GAD)
BOLA3
Human Genome Epidemiology (HuGE) Navigator
BOLA3
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
BOLA3
genes like me logo Genes that share disorders with BOLA3: view

No data available for Genatlas for BOLA3 Gene

Publications for BOLA3 Gene

  1. Solution structure of a BolA-like protein from Mus musculus. (PMID: 14718656) Kasai T. … Yokoyama S. (Protein Sci. 2004) 2 67
  2. Panorama of ancient metazoan macromolecular complexes. (PMID: 26344197) Wan C. … Emili A. (Nature 2015) 67
  3. The BioPlex Network: A Systematic Exploration of the Human Interactome. (PMID: 26186194) Huttlin E.L. … Gygi S.P. (Cell 2015) 67
  4. Variant non ketotic hyperglycinemia is caused by mutations in LIAS, BOLA3 and the novel gene GLRX5. (PMID: 24334290) Baker P.R. … Van Hove J.L. (Brain 2014) 67
  5. Homozygous missense mutation in BOLA3 causes multiple mitochondrial dysfunctions syndrome in two siblings. (PMID: 22562699) Haack T.B. … Prokisch H. (J. Inherit. Metab. Dis. 2013) 67

Products for BOLA3 Gene

Sources for BOLA3 Gene

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