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

GO - Molecular functionⁱ

RNA polymerase II transcription factor activity, sequence-specific DNA binding
Source: NTNU_SB
Inferred from sequence modelⁱ
- 19274049

View the complete GO annotation on QuickGO ...

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

EuPathDBⁱ	HostDB:ENSG00000163170.11.
Human Gene Nomenclature Database More...HGNCⁱ	HGNC:24415. BOLA3.
MIMⁱ	613183. gene.
neXtProtⁱ	NX_Q53S33.

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

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

Human Protein Atlas More...HPAⁱ	HPA053162.

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 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.
KEGG Orthology (KO) More...KOⁱ	K22075.
OMAⁱ	GAMYEIQ.
Database of Orthologous Groups More...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.
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

100% Identity
90% Identity
50% Identity

Protein	Similar proteins	Organisms	Length	Cluster ID	Cluster name	Size
Q53S33	H2QI56	Pan troglodytes (Chimpanzee)	107	UniRef100_Q53S33	Cluster: BolA-like protein 3	2
Q53S33-2	K7B625 A0A2J8XBB2	Pan troglodytes (Chimpanzee) Pongo abelii (Sumatran orangutan) (Pongo pygmaeus abelii)	101	UniRef100_K7B625	Cluster: BOLA3 isoform 4	3

Protein	Similar proteins	Organisms	Length	Cluster ID	Cluster name	Size
Q53S33	H2QI56 A0A2K5RUB6 UPI0003CC0839 UPI000A1BACCC Q3SZ84 F1PBH3 H0WMW5 A0A287BQV4 A0A1S2ZGF3 A0A1A6FVI8 +57	Pan troglodytes (Chimpanzee) Cebus capucinus imitator Dasypus novemcinctus (Nine-banded armadillo) Odocoileus virginianus texanus Bos taurus (Bovine) Canis lupus familiaris (Dog) (Canis familiaris) Otolemur garnettii (Small-eared galago) (Garnett's greater bushbaby) Sus scrofa (Pig) Erinaceus europaeus (Western European hedgehog) Neotoma lepida (Desert woodrat) And more	107	UniRef90_Q53S33	Cluster: BolA-like protein 3	68
Q53S33-2	G3RV90 UPI0004F0B7CD A0A2I2ZGY7 K7B625 A0A2J8XBB2 H9Z3T8 F6W2Y2 A0A2K6BDT3 A0A2K5N3X7 A0A2K5XA08 +6	Gorilla gorilla gorilla (Western lowland gorilla) Pan paniscus (Pygmy chimpanzee) (Bonobo) Pan troglodytes (Chimpanzee) Pongo abelii (Sumatran orangutan) (Pongo pygmaeus abelii) Macaca mulatta (Rhesus macaque) Macaca nemestrina (Pig-tailed macaque) Cercocebus atys (Sooty mangabey) (Cercocebus torquatus atys) Mandrillus leucophaeus (Drill) (Papio leucophaeus) Nomascus leucogenys (Northern white-cheeked gibbon) (Hylobates leucogenys) Chlorocebus sabaeus (Green monkey) (Cercopithecus sabaeus) And more	101	UniRef90_G3RV90	Cluster: BolA family member 3	17

Protein	Similar proteins	Organisms	Length	Cluster ID	Cluster name	Size
Q53S33	H2QI56 A0A2K5RUB6 UPI0003CC0839 UPI000A1BACCC UPI0002C67741 A0A1A6FVI8 UPI000A1B8B7F F1PBH3 UPI00057AF0B5 H0WMW5 +104	Pan troglodytes (Chimpanzee) Cebus capucinus imitator Dasypus novemcinctus (Nine-banded armadillo) Odocoileus virginianus texanus Ceratotherium simum simum (southern white rhinoceros) Neotoma lepida (Desert woodrat) Canis lupus familiaris (Dog) (Canis familiaris) Camelus bactrianus (Bactrian camel) Otolemur garnettii (Small-eared galago) (Garnett's greater bushbaby) Panthera pardus (Leopard) (Felis pardus) And more	107	UniRef50_Q53S33	Cluster: BolA-like protein 3	115
Q53S33-2	G5AXG6 UPI0007A6CE2E UPI0003C1A365 G1MG57 UPI000947B489 D2HH69 A0A2D4NTJ1 A0A218U9Q0 UPI0004F102DD F7I7D6 +49	Heterocephalus glaber (Naked mole rat) Miniopterus natalensis (Natal long-fingered bat) (Miniopterus schreibersii natalensis) Pantholops hodgsonii (Chiru) (Tibetan antelope) Ailuropoda melanoleuca (Giant panda) Micrurus surinamensis (Surinam coral snake) Lonchura striata domestica (Bengalese finch) Serinus canaria (Island canary) (Fringilla canaria) Callithrix jacchus (White-tufted-ear marmoset) Ictidomys tridecemlineatus (Thirteen-lined ground squirrel) (Spermophilus tridecemlineatus) Marmota marmota marmota (Alpine marmot) And more	101	UniRef50_G5AXG6	Cluster: BolA-like protein 3	60

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. 21 interactors.
IntActⁱ	Q53S33. 4 interactors.
STRINGⁱ	9606.ENSP00000331369.

PTM databases

iPTMnetⁱ	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.
EuPathDBⁱ	HostDB:ENSG00000163170.11.
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.
KEGG Orthology (KO) More...KOⁱ	K22075.
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. IPR036065. BolA-like_sf.
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:	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

Keywords - Technical termⁱ

3D-structure, Complete proteome, Reference proteome

UniProtKB

UniParc

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UniRef

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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>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 - Molecular 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

Mitochondrion

Mitochondrion

<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

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

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Functionⁱ

GO - Molecular functionⁱ

Names & Taxonomyⁱ

Subcellular locationⁱ

Pathology & Biotechⁱ

PTM / Processingⁱ

Expressionⁱ

Interactionⁱ

Structureⁱ

Family & Domainsⁱ

Sequence similaritiesⁱ

Cross-referencesⁱ

Entry informationⁱ

Miscellaneousⁱ