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BOLA2_HUMAN
ID   BOLA2_HUMAN             Reviewed;          86 AA.
AC   Q9H3K6; A1L454; A7YDY3;
DT   26-APR-2004, integrated into UniProtKB/Swiss-Prot.
DT   01-MAR-2001, sequence version 1.
DT   03-AUG-2022, entry version 169.
DE   RecName: Full=BolA-like protein 2;
GN   Name=BOLA2; Synonyms=BOLA2A; ORFNames=My016;
GN   and
GN   Name=BOLA2B;
OS   Homo sapiens (Human).
OC   Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia;
OC   Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae;
OC   Homo.
OX   NCBI_TaxID=9606;
RN   [1]
RP   NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
RC   TISSUE=Fetal brain;
RA   Mao Y.M., Xie Y., Huang X.Y., Ying K., Dai J.L.;
RL   Submitted (APR-1998) to the EMBL/GenBank/DDBJ databases.
RN   [2]
RP   NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 1 AND 2).
RC   TISSUE=Eye, and Kidney;
RX   PubMed=15489334; DOI=10.1101/gr.2596504;
RG   The MGC Project Team;
RT   "The status, quality, and expansion of the NIH full-length cDNA project:
RT   the Mammalian Gene Collection (MGC).";
RL   Genome Res. 14:2121-2127(2004).
RN   [3]
RP   PROTEIN SEQUENCE OF 1-9, AND ACETYLATION AT MET-1.
RC   TISSUE=Platelet;
RX   PubMed=12665801; DOI=10.1038/nbt810;
RA   Gevaert K., Goethals M., Martens L., Van Damme J., Staes A., Thomas G.R.,
RA   Vandekerckhove J.;
RT   "Exploring proteomes and analyzing protein processing by mass spectrometric
RT   identification of sorted N-terminal peptides.";
RL   Nat. Biotechnol. 21:566-569(2003).
RN   [4]
RP   IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
RX   PubMed=21269460; DOI=10.1186/1752-0509-5-17;
RA   Burkard T.R., Planyavsky M., Kaupe I., Breitwieser F.P., Buerckstuemmer T.,
RA   Bennett K.L., Superti-Furga G., Colinge J.;
RT   "Initial characterization of the human central proteome.";
RL   BMC Syst. Biol. 5:17-17(2011).
RN   [5]
RP   INTERACTION WITH GLRX3.
RX   PubMed=22309771; DOI=10.1021/bi2019089;
RA   Li H., Mapolelo D.T., Randeniya S., Johnson M.K., Outten C.E.;
RT   "Human glutaredoxin 3 forms [2Fe-2S]-bridged complexes with human BolA2.";
RL   Biochemistry 51:1687-1696(2012).
RN   [6]
RP   FUNCTION, AND INTERACTION WITH GLRX3.
RX   PubMed=26613676; DOI=10.1021/jacs.5b10592;
RA   Banci L., Camponeschi F., Ciofi-Baffoni S., Muzzioli R.;
RT   "Elucidating the molecular function of human BOLA2 in GRX3-dependent
RT   anamorsin maturation pathway.";
RL   J. Am. Chem. Soc. 137:16133-16143(2015).
RN   [7]
RP   SUBCELLULAR LOCATION.
RX   PubMed=22746225; DOI=10.1089/ars.2011.4253;
RA   Willems P., Wanschers B.F., Esseling J., Szklarczyk R., Kudla U.,
RA   Duarte I., Forkink M., Nooteboom M., Swarts H., Gloerich J., Nijtmans L.,
RA   Koopman W., Huynen M.A.;
RT   "BOLA1 is an aerobic protein that prevents mitochondrial morphology changes
RT   induced by glutathione depletion.";
RL   Antioxid. Redox Signal. 18:129-138(2013).
RN   [8]
RP   FUNCTION, AND INTERACTION WITH GLRX3.
RX   PubMed=27519415; DOI=10.1074/jbc.m116.744946;
RA   Frey A.G., Palenchar D.J., Wildemann J.D., Philpott C.C.;
RT   "A glutaredoxin-BolA complex serves as an iron-sulfur cluster chaperone for
RT   the cytosolic cluster assembly machinery.";
RL   J. Biol. Chem. 291:22344-22356(2016).
CC   -!- FUNCTION: Acts as a cytosolic iron-sulfur (Fe-S) cluster assembly
CC       factor that facilitates [2Fe-2S] cluster insertion into a subset of
CC       cytosolic proteins (PubMed:26613676, PubMed:27519415). Acts together
CC       with the monothiol glutaredoxin GLRX3 (PubMed:26613676,
CC       PubMed:27519415). {ECO:0000269|PubMed:26613676,
CC       ECO:0000269|PubMed:27519415}.
CC   -!- SUBUNIT: Interacts with GLRX3; forms a heterotrimeric complex composed
CC       by two BOLA2 molecules and one GLRX3 molecule; linked by [2Fe-2S]
CC       clusters (PubMed:22309771, PubMed:26613676, PubMed:27519415).
CC       {ECO:0000269|PubMed:22309771, ECO:0000269|PubMed:26613676,
CC       ECO:0000269|PubMed:27519415}.
CC   -!- INTERACTION:
CC       Q9H3K6; Q6FI81: CIAPIN1; NbExp=2; IntAct=EBI-1642537, EBI-750511;
CC       Q9H3K6; O76003: GLRX3; NbExp=3; IntAct=EBI-1642537, EBI-374781;
CC   -!- SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:22746225}. Nucleus
CC       {ECO:0000269|PubMed:22746225}.
CC   -!- ALTERNATIVE PRODUCTS:
CC       Event=Alternative splicing; Named isoforms=2;
CC       Name=1;
CC         IsoId=Q9H3K6-1; Sequence=Displayed;
CC       Name=2;
CC         IsoId=Q9H3K6-2; Sequence=VSP_010092, VSP_010093;
CC   -!- MISCELLANEOUS: [Isoform 2]: May be produced at very low levels due to a
CC       premature stop codon in the mRNA, leading to nonsense-mediated mRNA
CC       decay. {ECO:0000305}.
CC   -!- SIMILARITY: Belongs to the BolA/IbaG family. {ECO:0000305}.
CC   -!- SEQUENCE CAUTION:
CC       Sequence=AAH22832.1; Type=Erroneous initiation; Note=Extended N-terminus.; Evidence={ECO:0000305};
CC       Sequence=AAI30402.1; Type=Erroneous initiation; Note=Extended N-terminus.; Evidence={ECO:0000305};
CC       Sequence=AAI30404.1; Type=Erroneous initiation; Note=Extended N-terminus.; Evidence={ECO:0000305};
CC       Sequence=AAI37533.1; Type=Erroneous initiation; Note=Extended N-terminus.; Evidence={ECO:0000305};
CC       Sequence=AAI37535.1; Type=Erroneous initiation; Note=Extended N-terminus.; Evidence={ECO:0000305};
CC       Sequence=AAI44689.1; Type=Erroneous initiation; Note=Extended N-terminus.; Evidence={ECO:0000305};
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DR   EMBL; AF060511; AAG43129.1; -; mRNA.
DR   EMBL; BC022832; AAH22832.1; ALT_INIT; mRNA.
DR   EMBL; BC062756; -; NOT_ANNOTATED_CDS; mRNA.
DR   EMBL; BC130401; AAI30402.1; ALT_INIT; mRNA.
DR   EMBL; BC130403; AAI30404.1; ALT_INIT; mRNA.
DR   EMBL; BC137532; AAI37533.1; ALT_INIT; mRNA.
DR   EMBL; BC137534; AAI37535.1; ALT_INIT; mRNA.
DR   EMBL; BC144688; AAI44689.1; ALT_INIT; mRNA.
DR   CCDS; CCDS32426.1; -. [Q9H3K6-1]
DR   CCDS; CCDS32430.1; -. [Q9H3K6-1]
DR   RefSeq; NP_001026997.1; NM_001031827.2. [Q9H3K6-1]
DR   RefSeq; NP_001034271.1; NM_001039182.2. [Q9H3K6-1]
DR   RefSeq; NP_001307508.1; NM_001320579.1.
DR   RefSeq; XP_016855107.1; XM_016999618.1.
DR   AlphaFoldDB; Q9H3K6; -.
DR   SMR; Q9H3K6; -.
DR   BioGRID; 139268; 106.
DR   BioGRID; 576388; 56.
DR   ComplexPortal; CPX-6861; BOLA2-GLRX3 iron-sulfur cluster assembly complex.
DR   CORUM; Q9H3K6; -.
DR   IntAct; Q9H3K6; 27.
DR   MINT; Q9H3K6; -.
DR   STRING; 9606.ENSP00000306752; -.
DR   GlyGen; Q9H3K6; 1 site, 1 O-linked glycan (1 site).
DR   iPTMnet; Q9H3K6; -.
DR   MetOSite; Q9H3K6; -.
DR   PhosphoSitePlus; Q9H3K6; -.
DR   BioMuta; BOLA2; -.
DR   DMDM; 46577124; -.
DR   EPD; Q9H3K6; -.
DR   jPOST; Q9H3K6; -.
DR   MassIVE; Q9H3K6; -.
DR   MaxQB; Q9H3K6; -.
DR   PaxDb; Q9H3K6; -.
DR   PeptideAtlas; Q9H3K6; -.
DR   PRIDE; Q9H3K6; -.
DR   ProteomicsDB; 80726; -. [Q9H3K6-1]
DR   ProteomicsDB; 80727; -. [Q9H3K6-2]
DR   TopDownProteomics; Q9H3K6-1; -. [Q9H3K6-1]
DR   Antibodypedia; 66708; 66 antibodies from 12 providers.
DR   Antibodypedia; 68804; 11 antibodies from 4 providers.
DR   DNASU; 552900; -.
DR   Ensembl; ENST00000330978.4; ENSP00000331127.4; ENSG00000183336.9. [Q9H3K6-1]
DR   Ensembl; ENST00000651894.2; ENSP00000498355.1; ENSG00000169627.9. [Q9H3K6-1]
DR   GeneID; 552900; -.
DR   GeneID; 654483; -.
DR   KEGG; hsa:552900; -.
DR   KEGG; hsa:654483; -.
DR   MANE-Select; ENST00000330978.4; ENSP00000331127.4; NM_001031827.3; NP_001026997.2.
DR   MANE-Select; ENST00000651894.2; ENSP00000498355.1; NM_001039182.4; NP_001034271.2.
DR   UCSC; uc002dss.3; human. [Q9H3K6-1]
DR   CTD; 552900; -.
DR   CTD; 654483; -.
DR   DisGeNET; 552900; -.
DR   DisGeNET; 654483; -.
DR   GeneCards; BOLA2; -.
DR   GeneCards; BOLA2B; -.
DR   HGNC; HGNC:29488; BOLA2.
DR   HGNC; HGNC:32479; BOLA2B.
DR   HPA; ENSG00000169627; Low tissue specificity.
DR   HPA; ENSG00000183336; Low tissue specificity.
DR   MIM; 613182; gene.
DR   neXtProt; NX_Q9H3K6; -.
DR   OpenTargets; ENSG00000261740; -.
DR   PharmGKB; PA143485317; -.
DR   VEuPathDB; HostDB:ENSG00000169627; -.
DR   VEuPathDB; HostDB:ENSG00000183336; -.
DR   eggNOG; KOG0891; Eukaryota.
DR   eggNOG; KOG3348; Eukaryota.
DR   GeneTree; ENSGT00510000047760; -.
DR   HOGENOM; CLU_152301_0_0_1; -.
DR   InParanoid; Q9H3K6; -.
DR   OrthoDB; 1571278at2759; -.
DR   PhylomeDB; Q9H3K6; -.
DR   TreeFam; TF313141; -.
DR   PathwayCommons; Q9H3K6; -.
DR   Reactome; R-HSA-8950505; Gene and protein expression by JAK-STAT signaling after Interleukin-12 stimulation.
DR   SignaLink; Q9H3K6; -.
DR   BioGRID-ORCS; 552900; 87 hits in 564 CRISPR screens.
DR   BioGRID-ORCS; 654483; 15 hits in 241 CRISPR screens.
DR   ChiTaRS; BOLA2B; human.
DR   Pharos; Q9H3K6; Tbio.
DR   PRO; PR:Q9H3K6; -.
DR   Proteomes; UP000005640; Chromosome 16.
DR   RNAct; Q9H3K6; protein.
DR   Bgee; ENSG00000169627; Expressed in mucosa of transverse colon and 98 other tissues.
DR   ExpressionAtlas; Q9H3K6; baseline and differential.
DR   Genevisible; Q9H3K6; HS.
DR   GO; GO:0005737; C:cytoplasm; IDA:UniProtKB.
DR   GO; GO:0005829; C:cytosol; IBA:GO_Central.
DR   GO; GO:1990229; C:iron-sulfur cluster assembly complex; IPI:ComplexPortal.
DR   GO; GO:0005634; C:nucleus; IDA:UniProtKB.
DR   GO; GO:0051537; F:2 iron, 2 sulfur cluster binding; IEA:InterPro.
DR   GO; GO:0051536; F:iron-sulfur cluster binding; IBA:GO_Central.
DR   GO; GO:0044571; P:[2Fe-2S] cluster assembly; IDA:UniProtKB.
DR   GO; GO:0045454; P:cell redox homeostasis; IDA:ComplexPortal.
DR   GO; GO:0006879; P:cellular iron ion homeostasis; IBA:GO_Central.
DR   GO; GO:0055072; P:iron ion homeostasis; IDA:ComplexPortal.
DR   GO; GO:0016226; P:iron-sulfur cluster assembly; IDA:ComplexPortal.
DR   GO; GO:0097428; P:protein maturation by iron-sulfur cluster transfer; IDA:UniProtKB.
DR   InterPro; IPR045115; BOL2.
DR   InterPro; IPR002634; BolA.
DR   InterPro; IPR036065; BolA-like_sf.
DR   PANTHER; PTHR12735; PTHR12735; 1.
DR   Pfam; PF01722; BolA; 1.
DR   PIRSF; PIRSF003113; BolA; 1.
DR   SUPFAM; SSF82657; SSF82657; 1.
PE   1: Evidence at protein level;
KW   Acetylation; Alternative splicing; Cytoplasm; Direct protein sequencing;
KW   Nucleus; Reference proteome.
FT   CHAIN           1..86
FT                   /note="BolA-like protein 2"
FT                   /id="PRO_0000201236"
FT   MOD_RES         1
FT                   /note="N-acetylmethionine"
FT                   /evidence="ECO:0000269|PubMed:12665801"
FT   VAR_SEQ         55..58
FT                   /note="LVNA -> FCTE (in isoform 2)"
FT                   /evidence="ECO:0000303|PubMed:15489334"
FT                   /id="VSP_010092"
FT   VAR_SEQ         59..86
FT                   /note="Missing (in isoform 2)"
FT                   /evidence="ECO:0000303|PubMed:15489334"
FT                   /id="VSP_010093"
SQ   SEQUENCE   86 AA;  10117 MW;  CA95C76A225B5384 CRC64;
     MELSAEYLRE KLQRDLEAEH VEVEDTTLNR CSCSFRVLVV SAKFEGKPLL QRHRLVNACL
     AEELPHIHAF EQKTLTPDQW ARERQK
 
 
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