Skip Header

You are using a version of browser that may not display all the features of this website. Please consider upgrading your browser.
Protein

BolA-like protein 3

Gene

BOLA3

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 4 out of 5-Experimental evidence at protein leveli

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
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 2

Organism-specific databases

HGNCiHGNC:24415. BOLA3.

Subcellular locationi

GO - Cellular componenti

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.
See also OMIM:614299
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_07791046 – 107Missing in MMDS2. 1 PublicationAdd BLAST62
Natural variantiVAR_07791167I → N in MMDS2. 1 Publication1
Natural variantiVAR_07618096H → R in MMDS2. 1 PublicationCorresponds to variant dbSNP:rs148674363Ensembl.1

Keywords - Diseasei

Disease mutation

Organism-specific databases

DisGeNETi388962.
MalaCardsiBOLA3.
MIMi614299. phenotype.
OpenTargetsiENSG00000163170.
Orphaneti401874. Fatal multiple mitochondrial dysfunction syndrome type 2.
PharmGKBiPA142672554.

Polymorphism and mutation databases

BioMutaiBOLA3.
DMDMi74726650.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00002455011 – 107BolA-like protein 3Add BLAST107

Proteomic databases

EPDiQ53S33.
MaxQBiQ53S33.
PaxDbiQ53S33.
PeptideAtlasiQ53S33.
PRIDEiQ53S33.
TopDownProteomicsiQ53S33-1. [Q53S33-1]

PTM databases

PhosphoSitePlusiQ53S33.

Expressioni

Tissue specificityi

Widely expressed.1 Publication

Gene expression databases

BgeeiENSG00000163170.
CleanExiHS_BOLA3.
GenevisibleiQ53S33. HS.

Organism-specific databases

HPAiHPA053162.

Interactioni

Subunit structurei

Interacts with NFU1 (PubMed:27532772).1 Publication

Protein-protein interaction databases

BioGridi132922. 19 interactors.
IntActiQ53S33. 4 interactors.
STRINGi9606.ENSP00000331369.

Structurei

Secondary structure

1107
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Helixi31 – 43Combined sources13
Beta strandi47 – 54Combined sources8
Turni57 – 59Combined sources3
Beta strandi63 – 69Combined sources7
Helixi70 – 74Combined sources5
Helixi77 – 89Combined sources13
Beta strandi99 – 101Combined sources3

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
2NCLNMR-A27-107[»]
ProteinModelPortaliQ53S33.
SMRiQ53S33.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Sequence similaritiesi

Belongs to the BolA/IbaG family.Curated

Phylogenomic databases

eggNOGiKOG3348. Eukaryota.
COG0271. LUCA.
GeneTreeiENSGT00390000013048.
HOGENOMiHOG000255169.
HOVERGENiHBG054131.
InParanoidiQ53S33.
OMAiGAMYEIQ.
OrthoDBiEOG091G0ZSQ.
PhylomeDBiQ53S33.
TreeFamiTF332952.

Family and domain databases

InterProiView protein in InterPro
IPR002634. BolA.
PfamiView protein in Pfam
PF01722. BolA. 1 hit.
SUPFAMiSSF82657. SSF82657. 1 hit.

Sequences (2)i

Sequence statusi: Complete.

This entry describes 2 isoformsi produced by alternative 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.

« 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]FASTAAdd to basket

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

Note: No experimental confirmation available.
Show »
Length:101
Mass (Da):11,569
Checksum:iB57EDE2A2A0A1F69
GO

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_07791046 – 107Missing in MMDS2. 1 PublicationAdd BLAST62
Natural variantiVAR_07791167I → N in MMDS2. 1 Publication1
Natural variantiVAR_07618096H → R in MMDS2. 1 PublicationCorresponds to variant dbSNP:rs148674363Ensembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_04578758 – 107GCGAM…SVPKR → TKRRNQRDAWIADIYLCPQT LTTPWLHRCCCLRPWMNFTD IILP in isoform 2. 1 PublicationAdd BLAST50

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.
CCDSiCCDS33224.1. [Q53S33-2]
CCDS33225.1. [Q53S33-1]
RefSeqiNP_001030582.1. NM_001035505.1. [Q53S33-2]
NP_997717.2. NM_212552.2. [Q53S33-1]
UniGeneiHs.61472.

Genome annotation databases

EnsembliENST00000295326; ENSP00000295326; ENSG00000163170. [Q53S33-2]
ENST00000327428; ENSP00000331369; ENSG00000163170. [Q53S33-1]
GeneIDi388962.
KEGGihsa:388962.
UCSCiuc002skc.2. human. [Q53S33-1]

Keywords - Coding sequence diversityi

Alternative splicing

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.
CCDSiCCDS33224.1. [Q53S33-2]
CCDS33225.1. [Q53S33-1]
RefSeqiNP_001030582.1. NM_001035505.1. [Q53S33-2]
NP_997717.2. NM_212552.2. [Q53S33-1]
UniGeneiHs.61472.

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
2NCLNMR-A27-107[»]
ProteinModelPortaliQ53S33.
SMRiQ53S33.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi132922. 19 interactors.
IntActiQ53S33. 4 interactors.
STRINGi9606.ENSP00000331369.

PTM databases

PhosphoSitePlusiQ53S33.

Polymorphism and mutation databases

BioMutaiBOLA3.
DMDMi74726650.

Proteomic databases

EPDiQ53S33.
MaxQBiQ53S33.
PaxDbiQ53S33.
PeptideAtlasiQ53S33.
PRIDEiQ53S33.
TopDownProteomicsiQ53S33-1. [Q53S33-1]

Protocols and materials databases

DNASUi388962.
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000295326; ENSP00000295326; ENSG00000163170. [Q53S33-2]
ENST00000327428; ENSP00000331369; ENSG00000163170. [Q53S33-1]
GeneIDi388962.
KEGGihsa:388962.
UCSCiuc002skc.2. human. [Q53S33-1]

Organism-specific databases

CTDi388962.
DisGeNETi388962.
GeneCardsiBOLA3.
HGNCiHGNC:24415. BOLA3.
HPAiHPA053162.
MalaCardsiBOLA3.
MIMi613183. gene.
614299. phenotype.
neXtProtiNX_Q53S33.
OpenTargetsiENSG00000163170.
Orphaneti401874. Fatal multiple mitochondrial dysfunction syndrome type 2.
PharmGKBiPA142672554.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG3348. Eukaryota.
COG0271. LUCA.
GeneTreeiENSGT00390000013048.
HOGENOMiHOG000255169.
HOVERGENiHBG054131.
InParanoidiQ53S33.
OMAiGAMYEIQ.
OrthoDBiEOG091G0ZSQ.
PhylomeDBiQ53S33.
TreeFamiTF332952.

Miscellaneous databases

ChiTaRSiBOLA3. human.
GenomeRNAii388962.
PROiQ53S33.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000163170.
CleanExiHS_BOLA3.
GenevisibleiQ53S33. HS.

Family and domain databases

InterProiView protein in InterPro
IPR002634. BolA.
PfamiView protein in Pfam
PF01722. BolA. 1 hit.
SUPFAMiSSF82657. SSF82657. 1 hit.
ProtoNetiSearch...

Entry informationi

Entry nameiBOLA3_HUMAN
AccessioniPrimary (citable) accession number: Q53S33
Secondary accession number(s): G3XAB0
Entry historyiIntegrated into UniProtKB/Swiss-Prot: July 11, 2006
Last sequence update: May 24, 2005
Last modified: March 15, 2017
This is version 95 of the entry and version 1 of the sequence. See complete history.
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny 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

  1. Human chromosome 2
    Human chromosome 2: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
  6. SIMILARITY comments
    Index of protein domains and families

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.