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Q53S33

- BOLA3_HUMAN

UniProt

Q53S33 - BOLA3_HUMAN

Protein

BolA-like protein 3

Gene

BOLA3

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 2 out of 5- Experimental evidence at protein leveli
  1. 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 1 Publication
    Note: Could be secreted via a non-classical export pathway.

    GO - Cellular componenti

    1. extracellular region Source: UniProtKB-SubCell

    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.1 Publication
    Note: The disease is caused by mutations affecting the gene represented in this entry.

    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 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. 1 interaction.
    STRINGi9606.ENSP00000331369.

    Structurei

    3D structure databases

    ProteinModelPortaliQ53S33.
    SMRiQ53S33. Positions 33-105.
    ModBaseiSearch...
    MobiDBiSearch...

    Family & Domainsi

    Sequence similaritiesi

    Belongs to the bolA/yrbA family.Curated

    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. 1 PublicationVSP_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

    BioGridi 132922. 1 interaction.
    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

    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: October 1, 2014
    This is version 73 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