UniProtKB - Q53S33 (BOLA3_HUMAN)
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Protein
BolA-like protein 3
Gene
BOLA3
Organism
Homo sapiens (Human)
Status
Functioni
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).By similarity1 Publication
GO - Molecular functioni
Names & Taxonomyi
Protein namesi | Recommended name: BolA-like protein 3Curated |
Gene namesi | Name:BOLA3Imported |
Organismi | Homo sapiens (Human) |
Taxonomic identifieri | 9606 [NCBI] |
Taxonomic lineagei | Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo |
Proteomesi |
|
Organism-specific databases
EuPathDBi | HostDB:ENSG00000163170.11. |
HGNCi | HGNC:24415. BOLA3. |
MIMi | 613183. gene. |
neXtProti | NX_Q53S33. |
Pathology & Biotechi
Involvement in diseasei
Multiple mitochondrial dysfunctions syndrome 2 with hyperglycinemia (MMDS2)4 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA 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.
See also OMIM:614299Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_077910 | 46 – 107 | Missing in MMDS2. 1 PublicationAdd BLAST | 62 | |
Natural variantiVAR_077911 | 67 | I → N in MMDS2. 1 PublicationCorresponds to variant dbSNP:rs550855238Ensembl. | 1 | |
Natural variantiVAR_076180 | 96 | H → R in MMDS2. 1 PublicationCorresponds to variant dbSNP:rs148674363Ensembl. | 1 |
Keywords - Diseasei
Disease mutation, Primary mitochondrial diseaseOrganism-specific databases
DisGeNETi | 388962. |
MalaCardsi | BOLA3. |
MIMi | 614299. phenotype. |
OpenTargetsi | ENSG00000163170. |
Orphaneti | 401874. Fatal multiple mitochondrial dysfunction syndrome type 2. |
PharmGKBi | PA142672554. |
Polymorphism and mutation databases
BioMutai | BOLA3. |
DMDMi | 74726650. |
PTM / Processingi
Molecule processing
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
ChainiPRO_0000245501 | 1 – 107 | BolA-like protein 3Add BLAST | 107 |
Proteomic databases
EPDi | Q53S33. |
MaxQBi | Q53S33. |
PaxDbi | Q53S33. |
PeptideAtlasi | Q53S33. |
PRIDEi | Q53S33. |
TopDownProteomicsi | Q53S33-1. [Q53S33-1] |
PTM databases
iPTMneti | Q53S33. |
PhosphoSitePlusi | Q53S33. |
Expressioni
Tissue specificityi
Widely expressed.1 Publication
Gene expression databases
Bgeei | ENSG00000163170. |
CleanExi | HS_BOLA3. |
Genevisiblei | Q53S33. HS. |
Organism-specific databases
HPAi | HPA053162. |
Interactioni
Subunit structurei
Interacts with NFU1 (PubMed:27532772).1 Publication
Protein-protein interaction databases
BioGridi | 132922. 21 interactors. |
IntActi | Q53S33. 4 interactors. |
STRINGi | 9606.ENSP00000331369. |
Structurei
Secondary structure
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more detailsFeature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Helixi | 31 – 43 | Combined sources | 13 | |
Beta strandi | 47 – 54 | Combined sources | 8 | |
Turni | 57 – 59 | Combined sources | 3 | |
Beta strandi | 63 – 69 | Combined sources | 7 | |
Helixi | 70 – 74 | Combined sources | 5 | |
Helixi | 77 – 89 | Combined sources | 13 | |
Beta strandi | 99 – 101 | Combined sources | 3 |
3D structure databases
Select the link destinations: PDBei RCSB PDBi PDBji Links Updated | PDB entry | Method | Resolution (Å) | Chain | Positions | PDBsum |
2NCL | NMR | - | A | 27-107 | [»] | |
ProteinModelPortali | Q53S33. | |||||
SMRi | Q53S33. | |||||
ModBasei | Search... | |||||
MobiDBi | Search... |
Family & Domainsi
Sequence similaritiesi
Belongs to the BolA/IbaG family.Curated
Phylogenomic databases
eggNOGi | KOG3348. Eukaryota. COG0271. LUCA. |
GeneTreei | ENSGT00390000013048. |
HOGENOMi | HOG000255169. |
HOVERGENi | HBG054131. |
InParanoidi | Q53S33. |
KOi | K22075. |
OMAi | GAMYEIQ. |
OrthoDBi | EOG091G0ZSQ. |
PhylomeDBi | Q53S33. |
TreeFami | TF332952. |
Family and domain databases
InterProi | View protein in InterPro IPR002634. BolA. IPR036065. BolA-like_sf. |
PANTHERi | PTHR12735. PTHR12735. 1 hit. |
Pfami | View protein in Pfam PF01722. BolA. 1 hit. |
SUPFAMi | SSF82657. SSF82657. 1 hit. |
s (2)i Sequence
Sequence statusi: Complete.
This entry describes 2 produced by isoformsialternative splicing. AlignAdd to basket
Isoform 1 (identifier: Q53S33-1) [UniParc]FASTAAdd to basket
This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.
10 20 30 40 50
MAAWSPAAAA PLLRGIRGLP LHHRMFATQT EGELRVTQIL KEKFPRATAI
60 70 80 90 100
KVTDISGGCG AMYEIKIESE EFKEKRTVQQ HQMVNQALKE EIKEMHGLRI
FTSVPKR
Natural variant
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_077910 | 46 – 107 | Missing in MMDS2. 1 PublicationAdd BLAST | 62 | |
Natural variantiVAR_077911 | 67 | I → N in MMDS2. 1 PublicationCorresponds to variant dbSNP:rs550855238Ensembl. | 1 | |
Natural variantiVAR_076180 | 96 | H → R in MMDS2. 1 PublicationCorresponds to variant dbSNP:rs148674363Ensembl. | 1 |
Alternative sequence
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Alternative sequenceiVSP_045787 | 58 – 107 | GCGAM…SVPKR → TKRRNQRDAWIADIYLCPQT LTTPWLHRCCCLRPWMNFTD IILP in isoform 2. 1 PublicationAdd BLAST | 50 |
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi Links Updated | DQ225187 mRNA. Translation: ABB04094.1. AA316348 mRNA. No translation available. AC073263 Genomic DNA. Translation: AAX93059.1. CH471053 Genomic DNA. Translation: EAW99700.1. |
CCDSi | CCDS33224.1. [Q53S33-2] CCDS33225.1. [Q53S33-1] |
RefSeqi | NP_001030582.1. NM_001035505.1. [Q53S33-2] NP_997717.2. NM_212552.2. [Q53S33-1] |
UniGenei | Hs.61472. |
Genome annotation databases
Ensembli | ENST00000295326; ENSP00000295326; ENSG00000163170. [Q53S33-2] ENST00000327428; ENSP00000331369; ENSG00000163170. [Q53S33-1] |
GeneIDi | 388962. |
KEGGi | hsa:388962. |
UCSCi | uc002skc.2. human. [Q53S33-1] |
Keywords - Coding sequence diversityi
Alternative splicingSimilar proteinsi
Entry informationi
Entry namei | BOLA3_HUMAN | |
Accessioni | Q53S33Primary (citable) accession number: Q53S33 Secondary accession number(s): G3XAB0 | |
Entry historyi | Integrated into UniProtKB/Swiss-Prot: | July 11, 2006 |
Last sequence update: | May 24, 2005 | |
Last modified: | March 28, 2018 | |
This is version 102 of the entry and version 1 of the sequence. See complete history. | ||
Entry statusi | Reviewed (UniProtKB/Swiss-Prot) | |
Annotation program | Chordata Protein Annotation Program | |
Disclaimer | Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care. |
Miscellaneousi
Caution
Was initially reported to be secreted via a non-classical export pathway (PubMed:18548201). It was however later shown that it localizes to mitochondria, in agreement with other members of the family (PubMed:22746225).2 Publications