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Q53S33

- BOLA3_HUMAN

UniProt

Q53S33 - BOLA3_HUMAN

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Protein
BolA-like protein 3
Gene
BOLA3
Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 3 out of 5 - Experimental evidence at protein leveli

Names & Taxonomyi

Protein namesi
Recommended name:
BolA-like protein 3
Gene namesi
Name:BOLA3
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
ProteomesiUP000005640: Chromosome 2

Organism-specific databases

HGNCiHGNC:24415. BOLA3.

Subcellular locationi

Secreted
Note: Could be secreted via a non-classical export pathway.1 Publication

GO - Cellular componenti

  1. extracellular region Source: UniProtKB-SubCell
Complete GO annotation...

Keywords - Cellular componenti

Secreted

Pathology & Biotechi

Involvement in diseasei

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.1 Publication

Organism-specific databases

MIMi614299. phenotype.
Orphaneti289573. Fatal multiple mitochondrial dysfunction syndrome.
PharmGKBiPA142672554.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 107107BolA-like protein 3
PRO_0000245501Add
BLAST

Proteomic databases

MaxQBiQ53S33.
PaxDbiQ53S33.
PRIDEiQ53S33.

Expressioni

Tissue specificityi

Widely expressed.1 Publication

Gene expression databases

BgeeiQ53S33.
CleanExiHS_BOLA3.
GenevestigatoriQ53S33.

Organism-specific databases

HPAiHPA053162.

Interactioni

Protein-protein interaction databases

STRINGi9606.ENSP00000331369.

Structurei

3D structure databases

ProteinModelPortaliQ53S33.
SMRiQ53S33. Positions 33-105.

Family & Domainsi

Sequence similaritiesi

Belongs to the bolA/yrbA family.

Phylogenomic databases

eggNOGiCOG0271.
HOGENOMiHOG000255169.
HOVERGENiHBG054131.
InParanoidiQ53S33.
OMAiPQATAIK.
OrthoDBiEOG74N5KB.
PhylomeDBiQ53S33.
TreeFamiTF332952.

Family and domain databases

InterProiIPR002634. BolA.
[Graphical view]
PfamiPF01722. BolA. 1 hit.
[Graphical view]
PIRSFiPIRSF003113. BolA. 1 hit.
SUPFAMiSSF82657. SSF82657. 1 hit.

Sequences (2)i

Sequence statusi: Complete.

This entry describes 2 isoformsi produced by alternative splicing. Align

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

MAAWSPAAAA PLLRGIRGLP LHHRMFATQT EGELRVTQIL KEKFPRATAI    50
KVTDISGGCG AMYEIKIESE EFKEKRTVQQ HQMVNQALKE EIKEMHGLRI 100
FTSVPKR 107
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

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei58 – 10750GCGAM…SVPKR → TKRRNQRDAWIADIYLCPQT LTTPWLHRCCCLRPWMNFTD IILP in isoform 2.
VSP_045787Add
BLAST

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
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.1. human. [Q53S33-1]
uc002skd.1. human.

Polymorphism databases

DMDMi74726650.

Keywords - Coding sequence diversityi

Alternative splicing

Cross-referencesi

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
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 ]
UniGenei Hs.61472.

3D structure databases

ProteinModelPortali Q53S33.
SMRi Q53S33. Positions 33-105.
ModBasei Search...
MobiDBi Search...

Protein-protein interaction databases

STRINGi 9606.ENSP00000331369.

Polymorphism databases

DMDMi 74726650.

Proteomic databases

MaxQBi Q53S33.
PaxDbi Q53S33.
PRIDEi Q53S33.

Protocols and materials databases

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.
UCSCi uc002skc.1. human. [Q53S33-1 ]
uc002skd.1. human.

Organism-specific databases

CTDi 388962.
GeneCardsi GC02M074275.
HGNCi HGNC:24415. BOLA3.
HPAi HPA053162.
MIMi 613183. gene.
614299. phenotype.
neXtProti NX_Q53S33.
Orphaneti 289573. Fatal multiple mitochondrial dysfunction syndrome.
PharmGKBi PA142672554.
GenAtlasi Search...

Phylogenomic databases

eggNOGi COG0271.
HOGENOMi HOG000255169.
HOVERGENi HBG054131.
InParanoidi Q53S33.
OMAi PQATAIK.
OrthoDBi EOG74N5KB.
PhylomeDBi Q53S33.
TreeFami TF332952.

Miscellaneous databases

ChiTaRSi BOLA3. human.
GenomeRNAii 388962.
NextBioi 102488.
PROi Q53S33.
SOURCEi Search...

Gene expression databases

Bgeei Q53S33.
CleanExi HS_BOLA3.
Genevestigatori Q53S33.

Family and domain databases

InterProi IPR002634. BolA.
[Graphical view ]
Pfami PF01722. BolA. 1 hit.
[Graphical view ]
PIRSFi PIRSF003113. BolA. 1 hit.
SUPFAMi SSF82657. SSF82657. 1 hit.
ProtoNeti Search...

Publicationsi

« Hide 'large scale' publications
  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.
    , 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. 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. Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
  8. Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].

Entry informationi

Entry nameiBOLA3_HUMAN
AccessioniPrimary (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: July 9, 2014
This is version 72 of the entry and version 1 of the sequence. [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

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. Human chromosome 2
    Human chromosome 2: entries, gene names and cross-references to MIM
  2. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  3. SIMILARITY comments
    Index of protein domains and families

External Data

Dasty 3

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