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Protein

BolA-like protein 3

Gene

BOLA3

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 2 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 Componenti: Chromosome 2

Organism-specific databases

HGNCiHGNC:24415. BOLA3.

Subcellular locationi

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

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)1 Publication

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

Organism-specific databases

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

PTM / Processingi

Molecule processing

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

BioGridi132922. 3 interactions.
STRINGi9606.ENSP00000331369.

Structurei

3D structure databases

ProteinModelPortaliQ53S33.
SMRiQ53S33. Positions 50-100.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Sequence similaritiesi

Belongs to the BolA/IbaG family.Curated

Phylogenomic databases

eggNOGiCOG0271.
GeneTreeiENSGT00390000013048.
HOGENOMiHOG000255169.
HOVERGENiHBG054131.
InParanoidiQ53S33.
OMAiYEIQIES.
OrthoDBiEOG74N5KB.
PhylomeDBiQ53S33.
TreeFamiTF332952.

Family and domain databases

InterProiIPR002634. BolA.
[Graphical view]
PfamiPF01722. BolA. 1 hit.
[Graphical view]
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

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei58 – 10750GCGAM…SVPKR → TKRRNQRDAWIADIYLCPQT LTTPWLHRCCCLRPWMNFTD IILP in isoform 2. 1 PublicationVSP_045787Add
BLAST

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

Polymorphism databases

DMDMi74726650.

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

ProteinModelPortaliQ53S33.
SMRiQ53S33. Positions 50-100.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi132922. 3 interactions.
STRINGi9606.ENSP00000331369.

Polymorphism databases

DMDMi74726650.

Proteomic databases

MaxQBiQ53S33.
PaxDbiQ53S33.
PRIDEiQ53S33.

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

Organism-specific databases

CTDi388962.
GeneCardsiGC02M074362.
HGNCiHGNC:24415. BOLA3.
HPAiHPA053162.
MIMi613183. gene.
614299. phenotype.
neXtProtiNX_Q53S33.
Orphaneti401874. Fatal multiple mitochondrial dysfunction syndrome type 2.
PharmGKBiPA142672554.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiCOG0271.
GeneTreeiENSGT00390000013048.
HOGENOMiHOG000255169.
HOVERGENiHBG054131.
InParanoidiQ53S33.
OMAiYEIQIES.
OrthoDBiEOG74N5KB.
PhylomeDBiQ53S33.
TreeFamiTF332952.

Miscellaneous databases

ChiTaRSiBOLA3. human.
GenomeRNAii388962.
NextBioi102488.
PROiQ53S33.
SOURCEiSearch...

Gene expression databases

BgeeiQ53S33.
CleanExiHS_BOLA3.
GenevestigatoriQ53S33.

Family and domain databases

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

Publicationsi

« Hide 'large scale' publications
  1. Zhou Y., Cao J., Han Z.
    Submitted (AUG-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(1994) [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(2004) [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(2007) [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(2010) [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: April 1, 2015
This is version 78 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

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 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.