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Q53S33 (BOLA3_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified March 19, 2014. Version 70. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (3) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Alt products·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended name:
BolA-like protein 3
Gene names
Name:BOLA3
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length107 AA.
Sequence statusComplete.
Protein existenceEvidence at protein level

General annotation (Comments)

Subcellular location

Secreted. Note: Could be secreted via a non-classical export pathway. Ref.5

Tissue specificity

Widely expressed. Ref.5

Involvement in disease

Multiple mitochondrial dysfunctions syndrome 2 (MMDS2) [MIM:614299]: A 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.
Note: The disease is caused by mutations affecting the gene represented in this entry. Ref.6

Sequence similarities

Belongs to the bolA/yrbA family.

Ontologies

Keywords
   Cellular componentSecreted
   Coding sequence diversityAlternative splicing
   Technical termComplete proteome
Reference proteome
Gene Ontology (GO)
   Cellular_componentextracellular region

Inferred from electronic annotation. Source: UniProtKB-SubCell

Complete GO annotation...

Alternative products

This entry describes 2 isoforms produced by alternative splicing. [Align] [Select]
Isoform 1 (identifier: Q53S33-1)

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.
Isoform 2 (identifier: Q53S33-2)

The sequence of this isoform differs from the canonical sequence as follows:
     58-107: GCGAMYEIKI...LRIFTSVPKR → TKRRNQRDAW...WMNFTDIILP
Note: No experimental confirmation available.

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 107107BolA-like protein 3
PRO_0000245501

Natural variations

Alternative sequence58 – 10750GCGAM…SVPKR → TKRRNQRDAWIADIYLCPQT LTTPWLHRCCCLRPWMNFTD IILP in isoform 2.
VSP_045787

Sequences

Sequence LengthMass (Da)Tools
Isoform 1 [UniParc].

Last modified May 24, 2005. Version 1.
Checksum: EF3BF21DF14BD136

FASTA10712,114
        10         20         30         40         50         60 
MAAWSPAAAA PLLRGIRGLP LHHRMFATQT EGELRVTQIL KEKFPRATAI KVTDISGGCG 

        70         80         90        100 
AMYEIKIESE EFKEKRTVQQ HQMVNQALKE EIKEMHGLRI FTSVPKR 

« Hide

Isoform 2 [UniParc].

Checksum: B57EDE2A2A0A1F69
Show »

FASTA10111,569

References

« Hide 'large scale' references
[1]Zhou Y., Cao J., Han Z.
Submitted (SEP-2005) to the EMBL/GenBank/DDBJ databases
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1).
Tissue: Liver.
[2]"Initial assessment of human gene diversity and expression patterns based upon 83 million nucleotides of cDNA sequence."
Adams M.D., Kerlavage A.R., Fleischmann R.D., Fuldner R.A., Bult C.J., Lee N.H., Kirkness E.F., Weinstock K.G., Gocayne J.D., White O.
Nature 377:3-174(1995) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2).
Tissue: Colon.
[3]"Generation and annotation of the DNA sequences of human chromosomes 2 and 4."
Hillier L.W., Graves T.A., Fulton R.S., Fulton L.A., Pepin K.H., Minx P., Wagner-McPherson C., Layman D., Wylie K., Sekhon M., Becker M.C., Fewell G.A., Delehaunty K.D., Miner T.L., Nash W.E., Kremitzki C., Oddy L., Du H. expand/collapse author list , Sun H., Bradshaw-Cordum H., Ali J., Carter J., Cordes M., Harris A., Isak A., van Brunt A., Nguyen C., Du F., Courtney L., Kalicki J., Ozersky P., Abbott S., Armstrong J., Belter E.A., Caruso L., Cedroni M., Cotton M., Davidson T., Desai A., Elliott G., Erb T., Fronick C., Gaige T., Haakenson W., Haglund K., Holmes A., Harkins R., Kim K., Kruchowski S.S., Strong C.M., Grewal N., Goyea E., Hou S., Levy A., Martinka S., Mead K., McLellan M.D., Meyer R., Randall-Maher J., Tomlinson C., Dauphin-Kohlberg S., Kozlowicz-Reilly A., Shah N., Swearengen-Shahid S., Snider J., Strong J.T., Thompson J., Yoakum M., Leonard S., Pearman C., Trani L., Radionenko M., Waligorski J.E., Wang C., Rock S.M., Tin-Wollam A.-M., Maupin R., Latreille P., Wendl M.C., Yang S.-P., Pohl C., Wallis J.W., Spieth J., Bieri T.A., Berkowicz N., Nelson J.O., Osborne J., Ding L., Meyer R., Sabo A., Shotland Y., Sinha P., Wohldmann P.E., Cook L.L., Hickenbotham M.T., Eldred J., Williams D., Jones T.A., She X., Ciccarelli F.D., Izaurralde E., Taylor J., Schmutz J., Myers R.M., Cox D.R., Huang X., McPherson J.D., Mardis E.R., Clifton S.W., Warren W.C., Chinwalla A.T., Eddy S.R., Marra M.A., Ovcharenko I., Furey T.S., Miller W., Eichler E.E., Bork P., Suyama M., Torrents D., Waterston R.H., Wilson R.K.
Nature 434:724-731(2005) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[4]Mural R.J., Istrail S., Sutton G., Florea L., Halpern A.L., Mobarry C.M., Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R., Flanigan M.J., Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V., Hannenhalli S., Turner R. expand/collapse author list , Yooseph S., Lu F., Nusskern D.R., Shue B.C., Zheng X.H., Zhong F., Delcher A.L., Huson D.H., Kravitz S.A., Mouchard L., Reinert K., Remington K.A., Clark A.G., Waterman M.S., Eichler E.E., Adams M.D., Hunkapiller M.W., Myers E.W., Venter J.C.
Submitted (JUL-2005) to the EMBL/GenBank/DDBJ databases
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[5]"hBolA, novel non-classical secreted proteins, belonging to different BolA family with functional divergence."
Zhou Y.B., Cao J.B., Wan B.B., Wang X.R., Ding G.H., Zhu H., Yang H.M., Wang K.S., Zhang X., Han Z.G.
Mol. Cell. Biochem. 317:61-68(2008) [PubMed] [Europe PMC] [Abstract]
Cited for: SUBCELLULAR LOCATION, TISSUE SPECIFICITY.
[6]"Mutations in iron-sulfur cluster scaffold genes NFU1 and BOLA3 cause a fatal deficiency of multiple respiratory chain and 2-oxoacid dehydrogenase enzymes."
Cameron J.M., Janer A., Levandovskiy V., Mackay N., Rouault T.A., Tong W.H., Ogilvie I., Shoubridge E.A., Robinson B.H.
Am. J. Hum. Genet. 89:486-495(2011) [PubMed] [Europe PMC] [Abstract]
Cited for: INVOLVEMENT IN MMDS2.
[7]"Initial characterization of the human central proteome."
Burkard T.R., Planyavsky M., Kaupe I., Breitwieser F.P., Buerckstuemmer T., Bennett K.L., Superti-Furga G., Colinge J.
BMC Syst. Biol. 5:17-17(2011) [PubMed] [Europe PMC] [Abstract]
Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
[8]"N-terminal acetylome analyses and functional insights of the N-terminal acetyltransferase NatB."
Van Damme P., Lasa M., Polevoda B., Gazquez C., Elosegui-Artola A., Kim D.S., De Juan-Pardo E., Demeyer K., Hole K., Larrea E., Timmerman E., Prieto J., Arnesen T., Sherman F., Gevaert K., Aldabe R.
Proc. Natl. Acad. Sci. U.S.A. 109:12449-12454(2012) [PubMed] [Europe PMC] [Abstract]
Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
+Additional computationally mapped references.

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
DQ225187 mRNA. Translation: ABB04094.1.
AA316348 mRNA. No translation available.
AC073263 Genomic DNA. Translation: AAX93059.1.
CH471053 Genomic DNA. Translation: EAW99700.1.
RefSeqNP_001030582.1. NM_001035505.1.
NP_997717.2. NM_212552.2.
UniGeneHs.61472.

3D structure databases

ProteinModelPortalQ53S33.
SMRQ53S33. Positions 33-105.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

STRING9606.ENSP00000331369.

Polymorphism databases

DMDM74726650.

Proteomic databases

PaxDbQ53S33.
PRIDEQ53S33.

Protocols and materials databases

DNASU388962.
StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000295326; ENSP00000295326; ENSG00000163170. [Q53S33-2]
ENST00000327428; ENSP00000331369; ENSG00000163170. [Q53S33-1]
GeneID388962.
KEGGhsa:388962.
UCSCuc002skc.1. human. [Q53S33-1]
uc002skd.1. human.

Organism-specific databases

CTD388962.
GeneCardsGC02M074275.
HGNCHGNC:24415. BOLA3.
HPAHPA053162.
MIM613183. gene.
614299. phenotype.
neXtProtNX_Q53S33.
Orphanet289573. Fatal multiple mitochondrial dysfunction syndrome.
PharmGKBPA142672554.
GenAtlasSearch...

Phylogenomic databases

eggNOGCOG0271.
HOGENOMHOG000255169.
HOVERGENHBG054131.
InParanoidQ53S33.
OMAYEIQIES.
OrthoDBEOG74N5KB.
PhylomeDBQ53S33.
TreeFamTF332952.

Gene expression databases

BgeeQ53S33.
CleanExHS_BOLA3.
GenevestigatorQ53S33.

Family and domain databases

InterProIPR002634. BolA.
[Graphical view]
PfamPF01722. BolA. 1 hit.
[Graphical view]
PIRSFPIRSF003113. BolA. 1 hit.
SUPFAMSSF82657. SSF82657. 1 hit.
ProtoNetSearch...

Other

ChiTaRSBOLA3. human.
GenomeRNAi388962.
NextBio102488.
PROQ53S33.
SOURCESearch...

Entry information

Entry nameBOLA3_HUMAN
AccessionPrimary (citable) accession number: Q53S33
Secondary accession number(s): G3XAB0
Entry history
Integrated into UniProtKB/Swiss-Prot: July 11, 2006
Last sequence update: May 24, 2005
Last modified: March 19, 2014
This is version 70 of the entry and version 1 of the sequence. [Complete history]
Entry statusReviewed (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.

Relevant documents

SIMILARITY comments

Index of protein domains and families

MIM cross-references

Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

Human chromosome 2

Human chromosome 2: entries, gene names and cross-references to MIM