BOLA3 Gene
protein-coding GIFtS: 44
GCID: GC02M074275
|
|
bolA homolog 3 (E. coli)(Previous name: bolA-like 3 (E. coli) )
| |
Aliases
for BOLA3 gene
(According to
1HGNC,
2Entrez Gene,
3UniProtKB/Swiss-Prot,
4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc,
7Ensembl,
8DME,
9miRBase,
and/or 10fRNAdb)
About This Section
|
| Aliases |
|---|
| BolA Homolog 3 (E. Coli)1 2 | | BolA-Like 3 (E. Coli)1 | | MMDS22 | | BolA-Like Protein 32 |
Export aliases for BOLA3 gene to outside databasesPrevious GC identifers: GC02M074216 GC02M074098 |
Summaries
for BOLA3 gene(According to Entrez Gene,
Tocris Bioscience,
Wikipedia's
Gene Wiki,
PharmGKB,
UniProtKB/Swiss-Prot,
and/or
UniProtKB/TrEMBL)
About This Section
|
Entrez Gene summary for BOLA3:
This gene encodes a protein that plays an essential role in the production of iron-sulfur (Fe-S) clusters for thenormal maturation of lipoate-containing 2-oxoacid dehydrogenases, and for the assembly of the mitochondrialrespiratory chain complexes. Mutation in this gene has been associated with multiple mitochondrial dysfunctionssyndrome-2. Two alternatively spliced transcript variants encoding different isoforms with distinct subcellularlocalization have been reported for this gene (PMID:21944046). (provided by RefSeq, Dec 2011)
|
Genomic Views
for BOLA3 gene
(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 69),
Regulatory elements and Epigenetics data according to
QIAGEN,
SABiosciences, and/or
SwitchGear Genomics)
About This Section
| RefSeq DNA sequence:- NC_000002.11 NC_018913.1 NT_022184.15
Regulatory elements:
 SABiosciences Regulatory transcription factor binding sites in the BOLA3 gene promoter:
TBP STAT1 p53 POU3F1 STAT1beta STAT1alpha RORalpha1 IRF-2 TFIID
Other transcription factors
Search SABiosciences Chromatin IP Primers for BOLA3
Epigenetics:
| | QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays 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: 2p13.1BOLA3 Gene in genomic location: bands according to Ensembl, locations according to
 (and/or Entrez Gene and/or Ensembl if different)
GeneLoc information about chromosome 2 GeneLoc Exon Structure GeneLoc location for GC02M074275: view genomic region
(about GC identifiers)
Start:
|
74,362,525 bp from pter |
End:
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74,375,121 bp from pter |
Size:
|
12,597 bases |
Orientation:
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minus strand |
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Proteins
for BOLA3 gene
(According to
1UniProtKB,
HORDE,
neXtProt,
Ensembl,
and/or Reactome,
Modification sites according to 2PhosphoSitePlus,
Specific Peptides from DME,
Protein expression images according to data from SPIRE MOPED and PaxDb,
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, and/or
Uscn,
Biochemical Assays by
EMD Millipore,
R&D Systems,
OriGene,
GenScript,
Cell Signaling Technology,
Enzo Life Sciences, and/or
Uscn,
Ontologies according to Gene
Ontology Consortium 01 Mar 2013 and
Entrez Gene,
Antibodies by
EMD Millipore,
R&D Systems,
GenScript,
Cell Signaling Technology,
OriGene,
Novus Biologicals,
Thermo Fisher Scientific,
Abcam, and/or
Uscn)
About This Section
|
UniProtKB/Swiss-Prot: BOLA3_HUMAN, Q53S33 (See
protein sequence)Recommended Name: BolA-like protein 3 Size: 107 amino acids; 12114 Da
Subcellular location: Secreted. Note=Could be secreted via a non-classical export pathway
Secondary accessions: G3XAB0Alternative splicing: 2 isoforms: Q53S33-1 Q53S33-2 (No experimental confirmation available)Explore the universe of human proteins at neXtProt for BOLA3: NX_Q53S33
BOLA3 Protein expression data from MOPED and PaxDb: About this image 
REFSEQ proteins (2 alternative transcripts):
NP_001030582.1 NP_997717.2
ENSEMBL proteins: ENSP00000331369 ENSP00000295326
Human Recombinant Protein Products:
Gene Ontology (GO): 2 cellular component terms (GO ID links to tree view): About this table | GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|
| GO:0005575 | cellular_component |
ND | -- | | GO:0005576 | extracellular region |
IEA | -- |
BOLA3 for ontologies About GeneDecksing
BOLA3 Antibody Products:
Assay Products for BOLA3: |
Protein
Domains /
Families
for BOLA3 gene(According to InterPro, ProtoNet,
UniProtKB, and/or BLOCKS,
Sets of similar genes according to GeneDecks)
About This Section
|
BOLA3 for domains About GeneDecksing
1 InterPro domain/family:Graphical View of Domain Structure for InterPro Entry Q53S33ProtoNet protein and cluster: Q53S33 1 Blocks protein family: IPB002634 BolA-like protein
UniProtKB/Swiss-Prot: BOLA3_HUMAN, Q53S33Similarity: Belongs to the bolA/yrbA family |
Function
for BOLA3 gene
(According to 1UniProtKB,
Genatlas,
LifeMap Discovery™,
IUBMB, and/or
2DME,
Human phenotypes from GenomeRNAi,
Animal models from MGI Mar 06 2013,
bound targets from SABiosciences,
miRNA Gene Targets from miRTarBase
shRNA from
OriGene,
RNAi from
EMD Millipore,
siRNAs from
OriGene,
QIAGEN,
microRNA from QIAGEN,
Gene Editing from DNA2.0,
Clones from EMD Millipore,
OriGene,
SwitchGear Genomics,
GenScript,
Sino Biological,
DNA2.0,
and Vector BioLabs,
Cell Lines from GenScript,
LifeMap BioReagents,
In Situ Hybridization Assays from Advanced Cell Diagnostics,
Ontologies according to Gene Ontology Consortium 01 Mar 2013 via
Entrez Gene.)
About This Section
|
Clone
Products: |  | Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore | |  | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for BOLA3 (see all 4)
OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for BOLA3 (see all 3)
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Synthesis Service for BOLA3 | |  | Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat BOLA3 |
Gene Ontology (GO): 1 molecular function term (GO ID links to tree view): About this table | GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|
| GO:0003674 | molecular_function |
ND | -- |
BOLA3 for ontologies About GeneDecksing
1 GenomeRNAi human phenotype for BOLA3:
|
Pathways & Interactions
for BOLA3 gene
(Pathways according to
EMD Millipore,
R&D Systems,
Cell Signaling Technology,
KEGG,
PharmGKB,
BioSystems,
Reactome,
Tocris Bioscience,
GeneGo (Thomson Reuters),
QIAGEN,
and/or UniProtKB,
Sets of similar genes according to GeneDecks,
Interaction Networks according to
SABiosciences,
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 Mar 2013 via
Entrez Gene).
About This Section
|
Interactions:
Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for BOLA3
STRING Interaction
Network Preview (showing 2 interactants - click image to see more details)
2 Interacting proteins for BOLA3 (ENSP000003313694) via UniProtKB, MINT, STRING, and/or I2DAbout this table
Gene Ontology (GO): 1 biological process term (GO ID links to tree view): About this table | GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|
| GO:0008150 | biological_process |
ND | -- |
BOLA3 for ontologies About GeneDecksing
|
Drugs & Compounds
for BOLA3 gene(Chemical Compounds according to UniProtKB, Enzo Life Sciences,
EMD Millipore, Tocris Bioscience
HMDB,
BitterDB, and/or
Novoseek, and Drugs according to
DrugBank,
Enzo Life Sciences, and/or
PharmGKB, with drugs/clinical trials/news
search links to CenterWatch)
About This Section
|
 Browse Tocris compounds for BOLA3
Search CenterWatch for drugs/clinical trials and news about BOLA3
|
Transcripts
for BOLA3 gene(Secondary structures according to
fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene
(Build 235 Homo sapiens; Mar 10 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,
RNAi Products from
EMD Millipore,
siRNAs from
OriGene,
QIAGEN,
shRNA from
OriGene,
microRNA from QIAGEN,
Tagged/untagged cDNA clones from
OriGene,
SwitchGear Genomics,
GenScript,
DNA2.0,
Vector BioLabs,
Primers from
OriGene,
SABiosciences, and/or
QIAGEN
)
About This Section
|
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: CD3574225 Ensembl transcripts including schematic representations, and UCSC links where relevant: ENST00000327428(uc002skc.1 uc002skd.1) ENST00000477685 ENST00000484655
ENST00000295326 ENST00000469676
Clone
Products: | | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for BOLA3 (see all 4)
OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for BOLA3 (see all 3)
OriGene custom cloning services – gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling
| | | GenScript: all cDNA clones in your preferred vector (see all 2): BOLA3 (NM_212552) | | | DNA2.0 Custom Codon Optimized Gene
Synthesis Service for BOLA3 | | | Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat BOLA3 |
Additional cDNA sequence: BC017744.2 BC028282.1 BC042036.1 DQ225187.1 6 DOTS entries: DT.101966960 DT.100024316 DT.100758437 DT.91818202 DT.75103685 DT.95264257 24/89 AceView cDNA sequences (see all 89): AI658822 BM785747 BM834895 AI439173 AI436769 BF001216 CD679328 AW001812 AW299794 AW301192 AI380704 AA636041 AW301212 AI419586 BX111938 AI335537 AI878836 AI470601 AA625548 BE504229 BE466764 AA028103 BF063094 F35913
GeneLoc Exon Structure
|
Expression
for BOLA3 gene
(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™,
plus additional links to
Genevestigator, and/or
SOURCE, and/or
BioGPS, and/or
UniProtKB,
PCR Arrays from
SABiosciences,
Primers from
OriGene,
SABiosciences, and/or
QIAGEN,
In Situ Hybridization Assays from Advanced Cell Diagnostics)
About This Section
| BOLA3 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: GATTGCGGAT
About this image
See BOLA3 Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for BOLA3
SOURCE GeneReport for Unigene cluster: Hs.61472
UniProtKB/Swiss-Prot: BOLA3_HUMAN, Q53S33Tissue specificity: Widely expressed
SABiosciences Custom PCR Arrays for BOLA3
Primer
Products: | | OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for BOLA3
Browse OriGene validated miRNA SYBR primer pairs
| | | SABiosciences RT2 qPCR Primer Assay in human, mouse, rat BOLA3 | | | QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat BOLA3 | | | QIAGEN QuantiFast Probe-based Assays in human, mouse, rat BOLA3 |
Orthologs
for BOLA3 gene
(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)
About This Section
|
This gene was present in the common ancestor of animals.
Orthologs for BOLA3 gene from 6/20 species (see all 20) 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 |
85.22(n)1
92.45(a)1 |
|
6 (35.94 cM)5
786531 NM_175277.41 NP_780486.11
833491475 |
lizard
(Anolis carolinensis) |
Reptilia |
BOLA36 |
-- |
67(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 |
honey bee
(Apis mellifera) |
Insecta |
-- |
-- |
45(a) |
1 ↔ 1 |
GroupUn.138(15582-16302) |
worm
(Caenorhabditis elegans) |
Secernentea |
Y105E8A.116 |
Protein Y105E8A.11 |
33(a) |
1 ↔ 1 |
I(14432779-14433735) |
ENSEMBL Gene Tree for BOLA3 (if available)
TreeFam Gene Tree for BOLA3 (if available) |
Paralogs
for BOLA3 gene(Paralogs according to
1HomoloGene,
2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
About This Section
| Paralogs for BOLA3 gene
BOLA3 for paralogs About GeneDecksing
4 Pseudogenes.org Pseudogenes for BOLA3
PGOHUM00000242881 PGOHUM00000234484 PGOHUM00000235385 PGOHUM00000236431
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Genomic Variants
for BOLA3 gene(SNPs/Variants according to the
1NCBI SNP Database,
2Ensembl,
3PupaSUITE,
UniProtKB, 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) and the Locus Specific Mutation
Databases (LSDB), Blood group antigen gene mutations by BGMUT,
Resequencing Primers from QIAGEN,
Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
About This Section
|
| Genomic Data | Transcription Related Data | Allele Frequencies | | SNP ID | Valid | Clinical
significance | Chr 2 pos | Sequence | # | AA
Chg | Type | More | # | Allele
freq | Pop | Total
sample | More |
|---|
HapMap Linkage Disequilibrium report for BOLA3 (74362525 - 74375121 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV) variations for BOLA3: --
Human Gene Mutation Database (HGMD): BOLA3
| SABiosciences Cancer Mutation PCR Assays |
| | QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing BOLA3 |
|
Disorders
/ Diseases
for BOLA3 gene
(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.)
About This Section
|
BOLA3 for disorders About GeneDecksing
OMIM gene information: 613183
OMIM disorders: --
UniProtKB/Swiss-Prot: BOLA3_HUMAN, Q53S33
Defects in BOLA3 are the cause of multiple mitochondrial dysfunctions syndrome type 2 (MMDS2) [MIM:614299]. Asevere disorder of systemic energy metabolism, resulting in weakness, respiratory failure, lack of neurologicdevelopment, lactic acidosis, hyperglycinemia and early death. Some patients show failure to thrive, pulmonaryhypertension, hypotonia and irritability. Biochemical features include severe combined deficiency of the 2-oxoaciddehydrogenases, defective lipoic acid synthesis and reduction in activity of mitochondrial respiratory chain complexes
5  diseases for BOLA3: About MalaCardsmultiple mitochondrial dysfunctions syndrome multiple mitochondrial dysfunctions syndrome 2 lactic acidosis respiratory failure
hypotonia
Human Genome Epidemiology (HuGE) Navigator: BOLA3 (1 document)
Export disorders for BOLA3 gene to outside databases
|
Publications
for BOLA3 gene (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)
About This Section
|
PubMed articles for BOLA3 gene integrated from 9 sources:
(articles sorted by number of sources associating them with BOLA3) | |  | Utopia: connect your pdf to the dynamic
world of online information |
- 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. (2011)
- 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. (2008)
- Generation and annotation of the DNA sequences of human chromosomes 2 and 4. (PubMed id 15815621)1, 2 Hillier L.W....Wilson R.K. (2005)
- Solution structure of a BolA-like protein from Mus musculus. (PubMed id 14718656)1, 3 Kasai T....Yokoyama S. (2004)
- Initial characterization of the human central proteome. (PubMed id 21269460)2 Burkard T.R.... Colinge J. (2011)
- Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PubMed id 20379614)1 Rose J.E....Uhl G.R. (2010)
- 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. (2002)
- Hepatitis C virus core protein interacts with 14-3-3 protein and activates the kinase Raf-1. (PubMed id )2 Aoki H.... Hino O. (2000)
- 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. (1995)
|
External Searches for BOLA3 gene
(in PubMed,
OMIM, and NCBI Bookshelf)
About This Section
|
|
Genome Databases showing BOLA3 gene
(According to
Entrez Gene,
HGNC,
AceView,
euGenes,
Ensembl,
miRBase,
ECgene,
Kegg,
and/or
H-InvDB)
About This Section
|
|
Other Databases showing BOLA3 gene
(According to HUGE)
About This Section
| -- |
Specialized Databases showing BOLA3 gene(According to PharmGKB,
ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
About This Section
|
| Name | Description |
| PharmGKB entry for BOLA3 | Pharmacogenomics, SNPs, Pathways |
|
| | |
About This Section
| Patent Information for BOLA3 gene:
Search GeneIP for patents involving BOLA3
GeneCards and IP:
Japan Patent Office Licenses GeneCards European Patent Office Licenses GeneCards Improving the IP Search
|
Products
for BOLA3 gene(Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Uscn, Thermo Fisher Scientific, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript and LifeMap BioReagents, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or
Enzo Life Sciences),
In Situ Hybridization Assays from
Advanced Cell Diagnostics
About This Section
|
 | |
 | |
 |
| | |  | Browse OriGene Antibodies | | OriGene shRNA RFP for BOLA3 | | | OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for BOLA3 | | OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for BOLA3 | | | Browse OriGene Protein Over-expression Lysates | | Browse OriGene Fluorogenic Cell Assay Kits | | | OriGene siRNA for BOLA3 | | Browse 3'-UTR reporter clones for miRNA target validation | | | OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for BOLA3 | | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for BOLA3 | | | Browse OriGene GFP tagged cDNA clones in CMV expression vector | | Browse OriGene MicroRNA Expression Plasmids | | | Browse OriGene basic RS shRNAs | | Browse OriGene validated miRNA SYBR primer pairs | | | Browse OriGene full length recombinant human proteins expressed in human HEK293 cells | | OriGene custom cloning services - gene synthesis, subcloning, mutagenesis,
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