UniProtKB - Q53S33 (BOLA3_HUMAN)
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
Caution
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
HGNCi | HGNC:24415 BOLA3 |
MIMi | 613183 gene |
neXtProti | NX_Q53S33 |
Subcellular locationi
Mitochondrion
- Mitochondrion 1 Publication
Cytosol
- cytosol Source: HPA
Mitochondrion
- mitochondrion Source: UniProtKB
Nucleus
- nuclear body Source: HPA
Keywords - Cellular componenti
MitochondrionPathology & 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.
Related information in OMIMFeature 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 Multiple mitochondrial dysfunctions syndrome type 2 |
PharmGKBi | PA142672554 |
Miscellaneous databases
Pharosi | Q53S33 |
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 |
jPOSTi | Q53S33 |
MassIVEi | Q53S33 |
MaxQBi | Q53S33 |
PaxDbi | Q53S33 |
PeptideAtlasi | Q53S33 |
PRIDEi | Q53S33 |
ProteomicsDBi | 33698 62531 [Q53S33-1] |
TopDownProteomicsi | Q53S33-1 [Q53S33-1] |
PTM databases
iPTMneti | Q53S33 |
PhosphoSitePlusi | Q53S33 |
Expressioni
Tissue specificityi
Widely expressed.1 Publication
Gene expression databases
Bgeei | ENSG00000163170 Expressed in 197 organ(s), highest expression level in deltoid |
Genevisiblei | Q53S33 HS |
Organism-specific databases
HPAi | HPA053162 |
Interactioni
Subunit structurei
Interacts with NFU1 (PubMed:27532772).
1 PublicationProtein-protein interaction databases
BioGridi | 132922, 22 interactors |
IntActi | Q53S33, 31 interactors |
STRINGi | 9606.ENSP00000331369 |
Structurei
Secondary structure
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details3D structure databases
SMRi | Q53S33 |
ModBasei | Search... |
PDBe-KBi | Search... |
Family & Domainsi
Sequence similaritiesi
Belongs to the BolA/IbaG family.Curated
Phylogenomic databases
eggNOGi | KOG3348 Eukaryota COG0271 LUCA |
GeneTreei | ENSGT00390000013048 |
HOGENOMi | HOG000255169 |
InParanoidi | Q53S33 |
KOi | K22075 |
OMAi | FPQATAI |
OrthoDBi | 1571278at2759 |
PhylomeDBi | Q53S33 |
TreeFami | TF332952 |
Family and domain databases
InterProi | View protein in InterPro IPR002634 BolA IPR036065 BolA-like_sf |
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 basketIsoform 1 (identifier: Q53S33-1) [UniParc]FASTAAdd to basket
This isoform has been chosen as the sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry. canonicali
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] |
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
Cross-referencesi
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] |
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 | [»] | |
SMRi | Q53S33 | |||||
ModBasei | Search... | |||||
PDBe-KBi | Search... |
Protein-protein interaction databases
BioGridi | 132922, 22 interactors |
IntActi | Q53S33, 31 interactors |
STRINGi | 9606.ENSP00000331369 |
PTM databases
iPTMneti | Q53S33 |
PhosphoSitePlusi | Q53S33 |
Polymorphism and mutation databases
BioMutai | BOLA3 |
DMDMi | 74726650 |
Proteomic databases
EPDi | Q53S33 |
jPOSTi | Q53S33 |
MassIVEi | Q53S33 |
MaxQBi | Q53S33 |
PaxDbi | Q53S33 |
PeptideAtlasi | Q53S33 |
PRIDEi | Q53S33 |
ProteomicsDBi | 33698 62531 [Q53S33-1] |
TopDownProteomicsi | Q53S33-1 [Q53S33-1] |
Protocols and materials databases
DNASUi | 388962 |
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] |
Organism-specific databases
CTDi | 388962 |
DisGeNETi | 388962 |
GeneCardsi | BOLA3 |
HGNCi | HGNC:24415 BOLA3 |
HPAi | HPA053162 |
MalaCardsi | BOLA3 |
MIMi | 613183 gene 614299 phenotype |
neXtProti | NX_Q53S33 |
OpenTargetsi | ENSG00000163170 |
Orphaneti | 401874 Multiple mitochondrial dysfunctions syndrome type 2 |
PharmGKBi | PA142672554 |
GenAtlasi | Search... |
Phylogenomic databases
eggNOGi | KOG3348 Eukaryota COG0271 LUCA |
GeneTreei | ENSGT00390000013048 |
HOGENOMi | HOG000255169 |
InParanoidi | Q53S33 |
KOi | K22075 |
OMAi | FPQATAI |
OrthoDBi | 1571278at2759 |
PhylomeDBi | Q53S33 |
TreeFami | TF332952 |
Miscellaneous databases
ChiTaRSi | BOLA3 human |
GenomeRNAii | 388962 |
Pharosi | Q53S33 |
PROi | PR:Q53S33 |
SOURCEi | Search... |
Gene expression databases
Bgeei | ENSG00000163170 Expressed in 197 organ(s), highest expression level in deltoid |
Genevisiblei | Q53S33 HS |
Family and domain databases
InterProi | View protein in InterPro IPR002634 BolA IPR036065 BolA-like_sf |
Pfami | View protein in Pfam PF01722 BolA, 1 hit |
SUPFAMi | SSF82657 SSF82657, 1 hit |
ProtoNeti | Search... |
MobiDBi | Search... |
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: | November 13, 2019 | |
This is version 114 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
Keywords - Technical termi
3D-structure, Complete proteome, Reference proteomeDocuments
- Human entries with polymorphisms or disease mutations
List of human entries with polymorphisms or disease mutations - SIMILARITY comments
Index of protein domains and families - Human chromosome 2
Human chromosome 2: entries, gene names and cross-references to MIM - Human polymorphisms and disease mutations
Index of human polymorphisms and disease mutations - MIM cross-references
Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot - PDB cross-references
Index of Protein Data Bank (PDB) cross-references