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BOLA3 Gene

protein-coding   GIFtS: 47
GCID: GC02M074362

BolA Family Member 3

(Previous names: bolA-like 3 (E. coli), bolA homolog 3 (E. coli))
  See BOLA3-related disease
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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This gene clusters with an RNA gene
Subcategory (RNA class): lncRNA

Quality score for the ORGUL clustered with this gene is 3

Aliases
BolA Family Member 31 2
MMDS22 5
BolA Homolog 3 (E. Coli)1
BolA-Like 3 (E. Coli)1
BolA Homolog 32
BolA-Like Protein 32

External Ids:    HGNC: 244151   Entrez Gene: 3889622   Ensembl: ENSG000001631707   OMIM: 6131835   UniProtKB: Q53S333   
ORGUL members:         

Export aliases for BOLA3 gene to outside databases

Previous GC identifers: GC02M074275 GC02M074216 GC02M074098


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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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.




(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence at NCBI GenBank:
NC_000002.11  NC_018913.2  NT_022184.16  
Regulatory elements:
   Regulatory transcription factor binding sites in the BOLA3 gene promoter:
         TBP   STAT1   p53   POU3F1   STAT1beta   STAT1alpha   RORalpha1   IRF-2   TFIID   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidBOLA3 promoter sequence
   Search Chromatin IP Primers for BOLA3

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat BOLA3


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 2p13.1   Ensembl cytogenetic band:  2p13.1   HGNC cytogenetic band: 2p13.1

BOLA3 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
BOLA3 gene location

GeneLoc information about chromosome 2         GeneLoc Exon Structure

GeneLoc location for GC02M074362:  view genomic region     (about GC identifiers)

Start:
74,362,525 bp from pter      End:
74,375,121 bp from pter
Size:
12,597 bases      Orientation:
minus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, Cloud-Clone Corp., and/or eBioscience,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., and/or eBioscience, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
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UniProtKB/Swiss-Prot: BOLA3_HUMAN, Q53S33 (See protein sequence)
Recommended Name: BolA-like protein 3  
Size: 107 amino acids; 12114 Da
Secondary accessions: G3XAB0
Alternative splicing: 2 isoforms:  Q53S33-1   Q53S33-2   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for BOLA3: NX_Q53S33

Explore proteomics data for BOLA3 at MOPED


See BOLA3 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

REFSEQ proteins (2 alternative transcripts): 
NP_001030582.1  NP_997717.2  

ENSEMBL proteins: 
 ENSP00000331369   ENSP00000295326  

BOLA3 Human Recombinant Protein Products:

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(According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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1 InterPro protein domain:
 IPR002634 BolA

Graphical View of Domain Structure for InterPro Entry Q53S33

ProtoNet protein and cluster: Q53S33

1 Blocks protein domain: IPB002634 BolA-like protein

UniProtKB/Swiss-Prot: BOLA3_HUMAN, Q53S33
Similarity: Belongs to the bolA/yrbA family


Find genes that share domains with BOLA3           About GenesLikeMe


(According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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     Gene Ontology (GO): 1 molecular function term:    About this table

GO IDQualified GO termEvidencePubMed IDs
GO:0003674molecular_function ND--
     
Find genes that share ontologies with BOLA3           About GenesLikeMe


Phenotypes:
     1 GenomeRNAi human phenotype for BOLA3:
 Increased circadian period len 

Animal Models:
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miRNA
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3 qRT-PCR Assays for microRNAs that regulate BOLA3:
hsa-miR-374b hsa-miR-3121-3p hsa-miR-374a
SwitchGear 3'UTR luciferase reporter plasmidBOLA3 3' UTR sequence
Inhib. RNA
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(According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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Subcellular locations from UniProtKB/Swiss-Prot
BOLA3_HUMAN, Q53S33: Secreted. Note=Could be secreted via a non-classical export pathway
Subcellular locations from COMPARTMENTS: 

CompartmentConfidence
extracellular5
mitochondrion3
cytosol1

Gene Ontology (GO): 2 cellular component terms:    About this table

GO IDQualified GO termEvidencePubMed IDs
GO:0005575cellular_component ND--
GO:0005576extracellular region IEA--

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(SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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    Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for BOLA3
Interactions:

    Search GeneGlobe Interaction Network for BOLA3

STRING Interaction Network Preview (showing 5 interactants - click image to see 14)

Selected Interacting proteins for BOLA3 (ENSP000003313694) via UniProtKB, MINT, STRING, and/or I2D (see all 14)
InteractantInteraction Details
GeneCardExternal ID(s)
WDR33ENSP000003253774STRING: ENSP00000325377
GLRX3ENSP000003308364STRING: ENSP00000330836
GLRX5ENSP000003285704STRING: ENSP00000328570
XPNPEP1ENSP000003586944STRING: ENSP00000358694
XPNPEP2ENSP000003601474STRING: ENSP00000360147
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Gene Ontology (GO): 1 biological process term:    About this table

GO IDQualified GO termEvidencePubMed IDs
GO:0008150biological_process ND--

Find genes that share ontologies with BOLA3           About GenesLikeMe



(Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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Browse Small Molecules at EMD Millipore
   Browse drugs & compounds from Enzo Life Sciences
  Browse compounds at ApexBio 

Browse Tocris compounds for BOLA3



(Secondary structures according to fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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REFSEQ mRNAs for BOLA3 gene (2 alternative transcripts): 
NM_001035505.1  NM_212552.2  

Unigene Cluster for BOLA3:

BolA homolog 3 (E. coli)
Hs.61472  [show with all ESTs]
Unigene Representative Sequence: CD357422
5 Ensembl transcripts including schematic representations, and UCSC links where relevant:
ENST00000327428(uc002skc.1 uc002skd.1) ENST00000477685 ENST00000484655
ENST00000295326 ENST00000469676
miRNA
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3 qRT-PCR Assays for microRNAs that regulate BOLA3:
hsa-miR-374b hsa-miR-3121-3p hsa-miR-374a
SwitchGear 3'UTR luciferase reporter plasmidBOLA3 3' UTR sequence
Inhib. RNA
Products:
     
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Predesigned siRNA for gene silencing in human, mouse, rat BOLA3
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Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat BOLA3
Primer
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Pre-validated RT2 qPCR Primer Assay in human, mouse, rat BOLA3
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  QuantiFast Probe-based Assays in human, mouse, rat BOLA3

Additional mRNA sequence: 

BC017744.2 BC028282.1 BC042036.1 DQ225187.1 

6 DOTS entries:

DT.101966960  DT.100024316  DT.100758437  DT.91818202  DT.75103685  DT.95264257 

Selected AceView cDNA sequences (see all 89):

AW001812 BM834895 AI439173 AW301192 AW301212 AI419586 AA636041 AI380704 
AW299794 AI335537 BE466764 AI470601 BM785747 AA625548 CD679328 AI658822 
AI878836 BF001216 BE504229 BX111938 AI436769 BC042036 AA028103 BM737977 

GeneLoc Exon Structure


(RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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BOLA3 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS <intensity>2/3
CGAP TAG: GATTGCGGAT
BOLA3 Expression
About this image


BOLA3 expression in embryonic tissues and stem cells    About this table
Data from LifeMap, the Embryonic Development and Stem Cells Database
 selected tissues (see all 2) fully expand
 
 Adipose (Muscoskeletal System)
         Thoracic Perivascular Adipose
 
 Kidney (Urinary System)
BOLA3 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

BOLA3 Protein Expression

SOURCE GeneReport for Unigene cluster: Hs.61472

UniProtKB/Swiss-Prot: BOLA3_HUMAN, Q53S33
Tissue specificity: Widely expressed

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In Situ
Assay Products:
 

 
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(Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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This gene was present in the common ancestor of animals and fungi.

Orthologs for BOLA3 gene from Selected species (see all 12)    About this table
Organism Taxonomic
classification
Gene Description Human
Similarity
Orthology
Type
Details
mouse
(Mus musculus)
Mammalia Bola31 , 5 bolA-like 3 (E. coli)1, 5 85.26(n)1
92.63(a)1
  6 (35.94 cM)5
786531  NM_175277.41  NP_780486.11 
 833491475 
lizard
(Anolis carolinensis)
Reptilia BOLA36
bolA family member 3
68(a)
1 ↔ 1
GL343968.1(88864-91232)
African clawed frog
(Xenopus laevis)
Amphibia Xl.220672 Xenopus laevis transcribed sequence with weak similarity more 72.3(n)    BG345425.1 
zebrafish
(Danio rerio)
Actinopterygii Dr.171922 Transcribed sequence with weak similarity to protein more 74.62(n)    BM104158.1 
worm
(Caenorhabditis elegans)
Secernentea Y105E8A.116
Protein Y105E8A.11 (Y105E8A.11) mRNA, complete cds...
33(a)
1 ↔ 1
I(14432793-14433741) WBGene00013671
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes AIM1(YAL046C)4 Protein involved in mitochondrial function or organization; more   --   1(57385-57029) 851251  NP_009353.1 


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

(Paralogs according to 1HomoloGene,
2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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Paralogs for BOLA3 gene

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4 Pseudogenes.org Pseudogenes for BOLA3
PGOHUM00000242881 PGOHUM00000234484 PGOHUM00000235385 PGOHUM00000236431


(SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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Selected SNPs for BOLA3 (see all 369)    About this table                                 

Genomic DataTranscription Related DataAllele Frequencies
SNP IDValidClinical
significance
Chr 2 posSequence#AA
Chg
TypeMore#Allele
freq
PopTotal
sample
More
----------
rs778393831,2
C,F--74099372(+) TTTTTT/GTTTTT 2 -- int13Minor allele frequency- G:0.19WA CSA 122
rs412859831,2
C,F--74233289(+) TCCTCG/AGTGTG 2 -- ds50016Minor allele frequency- A:0.08NA WA CSA 246
rs412859811,2
C,F--74233294(+) GGTGTG/CACTTG 2 -- ds50015Minor allele frequency- C:0.14NA WA CSA 126
rs1172098121,2
F--74233314(+) TCAGGG/ACAGGT 2 -- ds50011Minor allele frequency- A:0.02EA 120
rs344363601,2
C,F--74233318(+) GGCAGG/TTCCAT 2 -- ds50015Minor allele frequency- T:0.22NA WA 130
rs8288791,2
C,F,A,H--74233345(+) GGAATG/ATCTGC 2 -- ds500129Minor allele frequency- A:0.03NA EA NS WA CSA 2119
rs1397891301,2
--74233350(+) ATCTGC/TCTGTG 2 -- ds50010--------
rs1169478251,2
C,F--74233373(+) GGGAGG/ACAGGG 2 -- ds50011Minor allele frequency- A:0.02EA 120
rs1499183171,2
--74233429(+) CCTACC/GAAGAA 2 -- ds50010--------
rs1167855391,2
F--74233473(+) GAACCC/TGGATC 2 -- ds50011Minor allele frequency- T:0.03WA 118

HapMap Linkage Disequilibrium report for BOLA3 (74362525 - 74375121 bp)

Structural Variations
     Database of Genomic Variants (DGV) 2 variations for BOLA3:    About this table    
Variant IDTypeSubtypePubMed ID
nsv874286CNV Loss21882294
nsv525117CNV Loss19592680

Human Gene Mutation Database (HGMD): BOLA3
Site Specific Mutation Identification with PCR Assays
SeqTarget long-range PCR primers for resequencing BOLA3
DNA2.0 Custom Variant and Variant Library Synthesis for BOLA3

(in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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OMIM gene information: 613183   
OMIM disorders: 614299  
UniProtKB/Swiss-Prot: BOLA3_HUMAN, Q53S33
  • 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. Note=The disease is
    caused by mutations affecting the gene represented in this entry

  • 1 disease for BOLA3:    
    About MalaCards
    multiple mitochondrial dysfunctions syndrome 2


    Find genes that share disorders with BOLA3           About GenesLikeMe

    Genetic Association Database (GAD): BOLA3
    Human Genome Epidemiology (HuGE) Navigator: BOLA3 (1 document)

    Export disorders for BOLA3 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
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    PubMed articles for BOLA3 gene, integrated from 10 sources (see all 11):
    (articles sorted by number of sources associating them with BOLA3)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Mutations in iron-sulfur cluster scaffold genes NFU1 and BOLA3 cause a fatal deficiency of multiple respiratory chain and 2-oxoacid dehydrogenase enzymes. (PubMed id 21944046)1, 2 Cameron J.M.... Robinson B.H. (Am. J. Hum. Genet. 2011)
    2. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PubMed id 20379614)1, 4 Rose J.E....Uhl G.R. (Mol. Med. 2010)
    3. hBolA, novel non-classical secreted proteins, belonging to different BolA family with functional divergence. (PubMed id 18548201)1, 2 Zhou Y.B.... Han Z.G. (Mol. Cell. Biochem. 2008)
    4. Generation and annotation of the DNA sequences of human chromosomes 2 and 4. (PubMed id 15815621)1, 2 Hillier L.W.... Wilson R.K. (Nature 2005)
    5. Solution structure of a BolA-like protein from Mus musculus. (PubMed id 14718656)1, 3 Kasai T....Yokoyama S. (Protein Sci. 2004)
    6. Homozygous missense mutation in BOLA3 causes multiple mitochondrial dysfunctions syndrome in two siblings. (PubMed id 22562699)1 Haack T.B....Prokisch H. (J. Inherit. Metab. Dis. 2013)
    7. N-terminal acetylome analyses and functional insights of the N- terminal acetyltransferase NatB. (PubMed id 22814378)2 Van Damme P....Aldabe R. (Proc. Natl. Acad. Sci. U.S.A. 2012)
    8. Initial characterization of the human central proteome. (PubMed id 21269460)2 Burkard T.R.... Colinge J. (BMC Syst. Biol. 2011)
    9. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PubMed id 12477932)1 Strausberg R.L....Marra M.A. (Proc. Natl. Acad. Sci. U.S.A. 2002)
    10. Initial assessment of human gene diversity and expression patterns based upon 83 million nucleotides of cDNA sequence. (PubMed id 7566098)2 Adams M.D.... White O. (Nature 1995)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 388962 HGNC: 24415 AceView: LOC388962 Ensembl:ENSG00000163170 euGenes: HUgn388962
    ECgene: BOLA3 H-InvDB: BOLA3

    (According to HUGE)
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    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    NameDescription
    PharmGKB entry for BOLA3 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for BOLA3 gene:
    Search GeneIP for patents involving BOLA3

    GeneCards and IP:
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