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Aliases for BOLA3 Gene

Aliases for BOLA3 Gene

  • BolA Family Member 3 2 3 5
  • BolA Homolog 3 (E. Coli) 2
  • BolA-Like 3 (E. Coli) 2
  • BolA-Like Protein 3 3
  • 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 Multiple Mitochondrial Dysfunctions Syndrome.

UniProtKB/Swiss-Prot for BOLA3 Gene

  • Acts as a mitochondrial iron-sulfur (Fe-S) cluster assembly factor that facilitates (Fe-S) cluster insertion into a subset of mitochondrial proteins. Probably acts together with NFU1 (PubMed:27532772).

No data available for CIViC summary , 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

Enhancers for BOLA3 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH02G073892 2 FANTOM5 Ensembl ENCODE dbSUPER 10.2 +254.2 254245 3.2 CREB3L1 ARNT AGO1 ARID4B SIN3A DMAP1 ZNF2 ZBTB7B YY1 SLC30A9 DUSP11 PCGF1 STAMBP SEMA4F ENSG00000273245 SMYD5 ACTG2 MTHFD2 CCDC142 DGUOK
GH02G073925 1.7 FANTOM5 ENCODE dbSUPER 10.2 +221.0 220961 3.5 HDGF PKNOX1 MLX CREB3L1 ZFP64 ARID4B SIN3A FEZF1 DMAP1 YY1 ACTG2 STAMBP BOLA3 BOLA3-AS1 DGUOK-AS1 DGUOK GC02M073969
GH02G074184 1.6 FANTOM5 Ensembl ENCODE 10.8 -38.4 -38426 4.8 HDGF PKNOX1 FOXA2 CREB3L1 ZNF207 ZNF263 SP5 JUNB TBX21 ZNF592 BOLA3-AS1 LOC107985899 BOLA3 FNBP1P1 MOB1A MTHFD2 TET3 LBX2 ENSG00000279201
GH02G074181 1.5 FANTOM5 Ensembl ENCODE 11 -34.0 -33968 2.1 HDGF WRNIP1 TCF12 KDM4B NCOA1 JUNB TBX21 SMARCA4 NBN HMBOX1 BOLA3-AS1 BOLA3 LOC107985899 MOB1A TET3 NAT8B ENSG00000279201
GH02G074035 1.5 Ensembl ENCODE dbSUPER 10.7 +110.5 110474 3.4 PKNOX1 ATF1 ARNT WRNIP1 TCF12 GATA2 NCOA1 REST MEF2D SMARCA4 TET3 BOLA3 BOLA3-AS1 ACTG2 LOC107985899 DGUOK-AS1 ENSG00000279181 FNBP1P1
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around BOLA3 on UCSC Golden Path with GeneCards custom track

Promoters for BOLA3 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000119130 94 1401 HDGF MLX ARNT AGO1 ARID4B SIN3A DMAP1 YY1 CBX5 ZNF143

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

Genes around BOLA3 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
BOLA3 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
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:
    • Interacts with NFU1 (PubMed:27532772).

    Three dimensional structures from OCA and Proteopedia for BOLA3 Gene

    Alternative splice isoforms for BOLA3 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for BOLA3 Gene

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

Molecular function for BOLA3 Gene

UniProtKB/Swiss-Prot Function:
Acts as a mitochondrial iron-sulfur (Fe-S) cluster assembly factor that facilitates (Fe-S) cluster insertion into a subset of mitochondrial proteins. Probably acts together with NFU1 (PubMed:27532772).

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

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

Human Phenotype Ontology for BOLA3 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Model Products

CRISPR Products

Inhibitory RNA Products

Clone Products

No data available for 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

Mitochondrion.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for BOLA3 gene
Compartment Confidence
mitochondrion 5
cytosol 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 --
GO:0005739 mitochondrion IDA 22746225
genes like me logo Genes that share ontologies with BOLA3: view

Pathways & Interactions for BOLA3 Gene

SuperPathways for BOLA3 Gene

No Data Available

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:

CRISPR Products

Inhibitory RNA Products

Clone 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 from GTEx, Illumina, BioGPS, and CGAP SAGE 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, MaxQB, and MOPED for BOLA3 Gene



NURSA nuclear receptor signaling pathways regulating expression of BOLA3 Gene:

BOLA3

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.

Evidence on tissue expression from TISSUES for BOLA3 Gene

  • Liver(4.3)
  • Intestine(4.2)
  • Nervous system(2.9)
  • Muscle(2)

Phenotype-based relationships between genes and organs from Gene ORGANizer for BOLA3 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • digestive
  • nervous
  • respiratory
  • skeletal muscle
Organs:
Head and neck:
  • brain
  • ear
  • head
Thorax:
  • esophagus
  • heart
  • heart valve
  • lung
Abdomen:
  • liver
  • stomach
genes like me logo Genes that share expression patterns with BOLA3: view

Primer 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
chimpanzee
(Pan troglodytes)
Mammalia BOLA3 34 35
  • 100 (n)
cow
(Bos Taurus)
Mammalia BOLA3 34 35
  • 91.51 (n)
dog
(Canis familiaris)
Mammalia BOLA3 34 35
  • 89.31 (n)
mouse
(Mus musculus)
Mammalia Bola3 34 16 35
  • 85.26 (n)
rat
(Rattus norvegicus)
Mammalia Bola3 34
  • 84.21 (n)
oppossum
(Monodelphis domestica)
Mammalia BOLA3 35
  • 74 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia BOLA3 35
  • 68 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia bola3 34
  • 70.24 (n)
Str.15194 34
African clawed frog
(Xenopus laevis)
Amphibia Xl.22067 34
zebrafish
(Danio rerio)
Actinopterygii zgc:100870 34
  • 67.36 (n)
BOLA3 35
  • 54 (a)
OneToOne
Dr.17192 34
worm
(Caenorhabditis elegans)
Secernentea Y105E8A.11 35
  • 33 (a)
OneToOne
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes AIM1 35
  • 25 (a)
OneToOne
BOL3 37
Species where no ortholog for BOLA3 was found in the sources mined by GeneCards:
  • 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
rs148674363 Multiple mitochondrial dysfunctions syndrome 2 with hyperglycinemia (MMDS2) [MIM:614299] 74,135,630(+) ATCCA(C/T)GCATC downstream-variant-500B, reference, synonymous-codon, missense
rs550855238 Multiple mitochondrial dysfunctions syndrome 2 with hyperglycinemia (MMDS2) [MIM:614299] 74,142,330(+) ATTCA(A/T)TTTTA intron-variant, reference, missense
rs143492730 Pathogenic 74,145,222(+) AGCTC(A/G)TGGAA reference, stop-gained
rs869320737 Pathogenic 74,145,234(-) TCAAA(-/A)GAAAA reference, frameshift-variant
rs144366005 Uncertain significance 74,145,221(+) TAGCT(C/T)GTGGA reference, missense

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

Variant ID Type Subtype PubMed ID
esv3591277 CNV gain 21293372
esv3591278 CNV gain 21293372
nsv525117 CNV loss 19592680

Variation tolerance for BOLA3 Gene

Residual Variation Intolerance Score: 64.6% 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

Human Gene Mutation Database (HGMD)
BOLA3
SNPedia medical, phenotypic, and genealogical associations of SNPs for
BOLA3

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

Disorders for BOLA3 Gene

MalaCards: The human disease database

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

Disorder Aliases PubMed IDs
multiple mitochondrial dysfunctions syndrome 2
  • mmds2
multiple mitochondrial dysfunctions syndrome
  • fatal multiple mitochondrial dysfunction syndrome
alcohol-related neurodevelopmental disorder
  • arnd
glycine encephalopathy
  • non-ketotic hyperglycinemia
- elite association - COSMIC cancer census association via MalaCards
Search BOLA3 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

BOLA3_HUMAN
  • Multiple mitochondrial dysfunctions syndrome 2 with hyperglycinemia (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, ECO:0000269 PubMed:22562699, ECO:0000269 PubMed:24334290, ECO:0000269 PubMed:26741492}. 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. Mitochondrial Bol1 and Bol3 function as assembly factors for specific iron-sulfur proteins. (PMID: 27532772) Uzarska M.A. … Lill R. (Elife 2016) 3 4 64
  2. 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) 3 4 64
  3. 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) 3 4 64
  4. BOLA1 is an aerobic protein that prevents mitochondrial morphology changes induced by glutathione depletion. (PMID: 22746225) Willems P. … Huynen M.A. (Antioxid. Redox Signal. 2013) 3 4 64
  5. Mutations in iron-sulfur cluster scaffold genes NFU1 and BOLA3 cause a fatal deficiency of multiple respiratory chain and 2-oxoacid dehydrogenase enzymes. (PMID: 21944046) Cameron J.M. … Robinson B.H. (Am. J. Hum. Genet. 2011) 3 4 64

Products for BOLA3 Gene

Sources for BOLA3 Gene

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