BOLA3

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

Names & Taxonomyⁱ

Protein namesⁱ	Recommended name: BolA-like protein 3Curated
Gene namesⁱ	Name:BOLA3Imported
Organismⁱ	Homo sapiens (Human)
Taxonomic identifierⁱ	9606 [NCBI]
Taxonomic lineageⁱ	cellular organisms › Eukaryota › Opisthokonta › Metazoa › Eumetazoa › Bilateria › Deuterostomia › Chordata › Craniata › Vertebrata › Gnathostomata › Teleostomi › Euteleostomi › Sarcopterygii › Dipnotetrapodomorpha › Tetrapoda › Amniota › Mammalia › Theria › Eutheria › Boreoeutheria › Euarchontoglires › Primates › Haplorrhini › Simiiformes › Catarrhini › Hominoidea › Hominidae › Homininae › Homo
Proteomesⁱ	UP000005640 Componentⁱ: Chromosome 2

Organism-specific databases

Human Gene Nomenclature Database More...HGNCⁱ	HGNC:24415. BOLA3.

HGNCⁱ

HGNC:24415. BOLA3.

Subcellular locationⁱ

Mitochondrion
1 Publication
Manual assertion based on experiment inⁱ
- Ref.9
  "BOLA1 is an aerobic protein that prevents mitochondrial morphology changes induced by glutathione depletion."
  Willems P., Wanschers B.F., Esseling J., Szklarczyk R., Kudla U., Duarte I., Forkink M., Nooteboom M., Swarts H., Gloerich J., Nijtmans L., Koopman W., Huynen M.A.
  Antioxid. Redox Signal. 18:129-138(2013) [PubMed] [Europe PMC] [Abstract]
  Cited for: SUBCELLULAR LOCATION.

GO - Cellular componentⁱ

mitochondrion
Source: UniProtKB
Inferred from direct assayⁱ
- 22746225

Complete GO annotation...

Keywords - Cellular componentⁱ

Mitochondrion

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.

Keywords - Diseaseⁱ

Disease mutation, Primary mitochondrial disease

Organism-specific databases

DisGeNET More...DisGeNETⁱ	388962.
MalaCards human disease database More...MalaCardsⁱ	BOLA3.
MIMⁱ	614299. phenotype.
Open Targets More...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.
MaxQB - The MaxQuant DataBase More...MaxQBⁱ	Q53S33.
PaxDbⁱ	Q53S33.
PeptideAtlas More...PeptideAtlasⁱ	Q53S33.
PRIDEⁱ	Q53S33.
TopDownProteomicsⁱ	Q53S33-1. [Q53S33-1]

PTM databases

PhosphoSitePlusⁱ	Q53S33.

PhosphoSitePlusⁱ

Q53S33.

Expressionⁱ

Tissue specificityⁱ

Widely expressed.1 Publication

Gene expression databases

Bgeeⁱ	ENSG00000163170.
CleanExⁱ	HS_BOLA3.
Genevisibleⁱ	Q53S33. HS.

Organism-specific databases

Human Protein Atlas More...HPAⁱ	HPA053162.

HPAⁱ

HPA053162.

Interactionⁱ

Subunit structureⁱ

Interacts with NFU1 (PubMed:27532772).1 Publication

Protein-protein interaction databases

BioGridⁱ	132922. 19 interactors.
IntActⁱ	Q53S33. 4 interactors.
STRINGⁱ	9606.ENSP00000331369.

Structureⁱ

Secondary structure

Legend: HelixTurnBeta strandPDB Structure known for this area

Show more details

Feature key	Position(s)	DescriptionActions	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: Protein Data Bank Europe More...PDBeⁱ Protein Data Bank RCSB More...RCSB PDBⁱ Protein Data Bank Japan More...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.
Ensembl GeneTree More...GeneTreeⁱ	ENSGT00390000013048.
HOGENOMⁱ	HOG000255169.
HOVERGENⁱ	HBG054131.
InParanoidⁱ	Q53S33.
OMAⁱ	GAMYEIQ.
Database of Orthologous Groups More...OrthoDBⁱ	EOG091G0ZSQ.
PhylomeDBⁱ	Q53S33.
TreeFamⁱ	TF332952.

Family and domain databases

InterProⁱ	View protein in InterPro IPR002634. BolA.
PANTHERⁱ	PTHR12735. PTHR12735. 1 hit.
Pfam protein domain database More...Pfamⁱ	View protein in Pfam PF01722. BolA. 1 hit.
SUPFAMⁱ	SSF82657. SSF82657. 1 hit.

Sequences (2)ⁱ

Sequence statusⁱ: Complete.

This entry describes 2 isoformsⁱ produced by alternative splicing. Align Add to basket Added to basket

Isoform 1 (identifier: Q53S33-1) [UniParc]FASTA Add 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.

« Hide

        10         20         30         40         50
MAAWSPAAAA PLLRGIRGLP LHHRMFATQT EGELRVTQIL KEKFPRATAI 
        60         70         80         90        100
KVTDISGGCG AMYEIKIESE EFKEKRTVQQ HQMVNQALKE EIKEMHGLRI 

FTSVPKR

Length:107

Mass (Da):12,114

Last modified:May 24, 2005 - v1

Checksum:ⁱEF3BF21DF14BD136

GO

Isoform 2 (identifier: Q53S33-2) [UniParc]FASTA Add to basket

The sequence of this isoform differs from the canonical sequence as follows:
58-107: GCGAMYEIKI...LRIFTSVPKR → TKRRNQRDAW...WMNFTDIILP

« Hide

        10         20         30         40         50
MAAWSPAAAA PLLRGIRGLP LHHRMFATQT EGELRVTQIL KEKFPRATAI 
        60         70         80         90        100
KVTDISGTKR RNQRDAWIAD IYLCPQTLTT PWLHRCCCLR PWMNFTDIIL 

P

Note: No experimental confirmation available.

Show »

Length:101

Mass (Da):11,569

Checksum:ⁱB57EDE2A2A0A1F69

GO

Natural variant

Feature key	Position(s)	DescriptionActions	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.
The Consensus CDS (CCDS) project More...CCDSⁱ	CCDS33224.1. [Q53S33-2] CCDS33225.1. [Q53S33-1]
NCBI Reference Sequences More...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.
UCSC genome browser More...UCSCⁱ	uc002skc.2. human. [Q53S33-1]

Keywords - Coding sequence diversityⁱ

Alternative splicing

Similar proteinsⁱ

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:

100%	UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%	UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%	UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.

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.
The Consensus CDS (CCDS) project More...CCDSⁱ	CCDS33224.1. [Q53S33-2] CCDS33225.1. [Q53S33-1]
NCBI Reference Sequences More...RefSeqⁱ	NP_001030582.1. NM_001035505.1. [Q53S33-2] NP_997717.2. NM_212552.2. [Q53S33-1]
UniGeneⁱ	Hs.61472.

3D structure databases

Select the link destinations: Protein Data Bank Europe More...PDBeⁱ Protein Data Bank RCSB More...RCSB PDBⁱ Protein Data Bank Japan More...PDBjⁱ Links Updated	PDB entry	Method	Resolution (Å)	Chain	Positions	PDBsum
	2NCL	NMR	-	A	27-107	[»]
ProteinModelPortalⁱ	Q53S33.
SMRⁱ	Q53S33.
ModBaseⁱ	Search...
MobiDBⁱ	Search...

Protein-protein interaction databases

BioGridⁱ	132922. 19 interactors.
IntActⁱ	Q53S33. 4 interactors.
STRINGⁱ	9606.ENSP00000331369.

PTM databases

PhosphoSitePlusⁱ	Q53S33.

PhosphoSitePlusⁱ

Q53S33.

Polymorphism and mutation databases

BioMutaⁱ	BOLA3.
DMDMⁱ	74726650.

Proteomic databases

EPDⁱ	Q53S33.
MaxQB - The MaxQuant DataBase More...MaxQBⁱ	Q53S33.
PaxDbⁱ	Q53S33.
PeptideAtlas More...PeptideAtlasⁱ	Q53S33.
PRIDEⁱ	Q53S33.
TopDownProteomicsⁱ	Q53S33-1. [Q53S33-1]

Protocols and materials databases

The DNASU plasmid repository More...DNASUⁱ	388962.
Structural Biology Knowledgebase	Search...

Genome annotation databases

Ensemblⁱ	ENST00000295326; ENSP00000295326; ENSG00000163170. [Q53S33-2] ENST00000327428; ENSP00000331369; ENSG00000163170. [Q53S33-1]
GeneIDⁱ	388962.
KEGGⁱ	hsa:388962.
UCSC genome browser More...UCSCⁱ	uc002skc.2. human. [Q53S33-1]

Organism-specific databases

CTDⁱ	388962.
DisGeNET More...DisGeNETⁱ	388962.
GeneCardsⁱ	BOLA3.
Human Gene Nomenclature Database More...HGNCⁱ	HGNC:24415. BOLA3.
Human Protein Atlas More...HPAⁱ	HPA053162.
MalaCards human disease database More...MalaCardsⁱ	BOLA3.
MIMⁱ	613183. gene. 614299. phenotype.
neXtProtⁱ	NX_Q53S33.
Open Targets More...OpenTargetsⁱ	ENSG00000163170.
Orphanetⁱ	401874. Fatal multiple mitochondrial dysfunction syndrome type 2.
PharmGKBⁱ	PA142672554.
GenAtlas: human gene database More...GenAtlasⁱ	Search...

Phylogenomic databases

eggNOGⁱ	KOG3348. Eukaryota. COG0271. LUCA.
Ensembl GeneTree More...GeneTreeⁱ	ENSGT00390000013048.
HOGENOMⁱ	HOG000255169.
HOVERGENⁱ	HBG054131.
InParanoidⁱ	Q53S33.
OMAⁱ	GAMYEIQ.
Database of Orthologous Groups More...OrthoDBⁱ	EOG091G0ZSQ.
PhylomeDBⁱ	Q53S33.
TreeFamⁱ	TF332952.

Miscellaneous databases

ChiTaRSⁱ	BOLA3. human.
GenomeRNAiⁱ	388962.
Protein Ontology More...PROⁱ	PR:Q53S33.
SOURCEⁱ	Search...

Gene expression databases

Bgeeⁱ	ENSG00000163170.
CleanExⁱ	HS_BOLA3.
Genevisibleⁱ	Q53S33. HS.

Family and domain databases

InterProⁱ	View protein in InterPro IPR002634. BolA.
PANTHERⁱ	PTHR12735. PTHR12735. 1 hit.
Pfam protein domain database More...Pfamⁱ	View protein in Pfam PF01722. BolA. 1 hit.
SUPFAMⁱ	SSF82657. SSF82657. 1 hit.
ProtoNetⁱ	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:	June 7, 2017
	This is version 98 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 intially 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

Keywords - Technical termⁱ

3D-structure, Complete proteome, Reference proteome

Documents

Human chromosome 2
Human chromosome 2: entries, gene names and cross-references to MIM
Human entries with polymorphisms or disease mutations
List of human entries with polymorphisms or disease mutations
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
SIMILARITY comments
Index of protein domains and families

UniProtKB

UniParc

Help

UniRef

Proteomes

Annotation systems

Supporting data

UniProtKB - Q53S33 (BOLA3_HUMAN)

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BolA-like protein 3

Select a section on the left to see content.

<p>This section provides any useful information about the protein, mostly biological knowledge.<p><a href='/help/function_section' target='_top'>More...</a></p>Functioni

<p>This section provides information about the protein and gene name(s) and synonym(s) and about the organism that is the source of the protein sequence.<p><a href='/help/names_and_taxonomy_section' target='_top'>More...</a></p>Names & Taxonomyi

Organism-specific databases

<p>This section provides information on the location and the topology of the mature protein in the cell.<p><a href='/help/subcellular_location_section' target='_top'>More...</a></p>Subcellular locationi

<p>The <a href="http://www.geneontology.org/">Gene Ontology (GO)</a> project provides a set of hierarchical controlled vocabulary split into 3 categories:<p><a href='/help/gene_ontology' target='_top'>More...</a></p>GO - Cellular componenti

<p>This section provides information on the disease(s) and phenotype(s) associated with a protein.<p><a href='/help/pathology_and_biotech_section' target='_top'>More...</a></p>Pathology & Biotechi

Organism-specific databases

Polymorphism and mutation databases

<p>This section describes post-translational modifications (PTMs) and/or processing events.<p><a href='/help/ptm_processing_section' target='_top'>More...</a></p>PTM / Processingi

Molecule processing

Proteomic databases

PTM databases

<p>This section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms.<p><a href='/help/expression_section' target='_top'>More...</a></p>Expressioni

Gene expression databases

Organism-specific databases

<p>This section provides information on the quaternary structure of a protein and on interaction(s) with other proteins or protein complexes.<p><a href='/help/interaction_section' target='_top'>More...</a></p>Interactioni

Protein-protein interaction databases

<p>This section provides information on the tertiary and secondary structure of a protein.<p><a href='/help/structure_section' target='_top'>More...</a></p>Structurei

Secondary structure

3D structure databases

<p>This section provides information on sequence similarities with other proteins and the domain(s) present in a protein.<p><a href='/help/family_and_domains_section' target='_top'>More...</a></p>Family & Domainsi

<p>This subsection of the ‘Family and domains’ section provides information about the sequence similarity with other proteins.<p><a href='/help/sequence_similarities' target='_top'>More...</a></p>Sequence similaritiesi

Phylogenomic databases

Family and domain databases

<p>This section displays by default the canonical protein sequence and upon request all isoforms described in the entry. It also includes information pertinent to the sequence(s), including length and molecular weight.<p><a href='/help/sequences_section' target='_top'>More...</a></p>Sequences (2)i

Natural variant

Alternative sequence

Sequence databases

Genome annotation databases

<p>This section is used to point to information related to entries and found in data collections other than UniProtKB.<p><a href='/help/cross_references_section' target='_top'>More...</a></p>Cross-referencesi

Sequence databases

3D structure databases

Protein-protein interaction databases

PTM databases

Polymorphism and mutation databases

Proteomic databases

Protocols and materials databases

Genome annotation databases

Organism-specific databases

Phylogenomic databases

Miscellaneous databases

Gene expression databases

Family and domain databases

<p>This section provides general information on the entry.<p><a href='/help/entry_information_section' target='_top'>More...</a></p>Entry informationi

<p>This section contains any relevant information that doesn’t fit in any other defined sections<p><a href='/help/miscellaneous_section' target='_top'>More...</a></p>Miscellaneousi

Caution

Documents

Functionⁱ

Names & Taxonomyⁱ

Subcellular locationⁱ

GO - Cellular componentⁱ

Pathology & Biotechⁱ

PTM / Processingⁱ

Expressionⁱ

Interactionⁱ

Structureⁱ

Family & Domainsⁱ

Sequence similaritiesⁱ

Sequences (2)ⁱ

Cross-referencesⁱ

Entry informationⁱ

Miscellaneousⁱ