LOCUS       NM_001031827             399 bp    mRNA    linear   PRI 22-SEP-2024
DEFINITION  Homo sapiens bolA family member 2 (BOLA2), transcript variant 1,
            mRNA.
ACCESSION   NM_001031827 XM_001123480
VERSION     NM_001031827.3
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 399)
  AUTHORS   Huttlin,E.L., Bruckner,R.J., Navarrete-Perea,J., Cannon,J.R.,
            Baltier,K., Gebreab,F., Gygi,M.P., Thornock,A., Zarraga,G., Tam,S.,
            Szpyt,J., Gassaway,B.M., Panov,A., Parzen,H., Fu,S., Golbazi,A.,
            Maenpaa,E., Stricker,K., Guha Thakurta,S., Zhang,T., Rad,R.,
            Pan,J., Nusinow,D.P., Paulo,J.A., Schweppe,D.K., Vaites,L.P.,
            Harper,J.W. and Gygi,S.P.
  TITLE     Dual proteome-scale networks reveal cell-specific remodeling of the
            human interactome
  JOURNAL   Cell 184 (11), 3022-3040 (2021)
   PUBMED   33961781
REFERENCE   2  (bases 1 to 399)
  AUTHORS   Talib,E.A. and Outten,C.E.
  TITLE     Iron-sulfur cluster biogenesis, trafficking, and signaling: Roles
            for CGFS glutaredoxins and BolA proteins
  JOURNAL   Biochim Biophys Acta Mol Cell Res 1868 (1), 118847 (2021)
   PUBMED   32910989
  REMARK    Review article
REFERENCE   3  (bases 1 to 399)
  AUTHORS   Giannuzzi,G., Schmidt,P.J., Porcu,E., Willemin,G., Munson,K.M.,
            Nuttle,X., Earl,R., Chrast,J., Hoekzema,K., Risso,D., Mannik,K., De
            Nittis,P., Baratz,E.D., Herault,Y., Gao,X., Philpott,C.C.,
            Bernier,R.A., Kutalik,Z., Fleming,M.D., Eichler,E.E. and Reymond,A.
  CONSRTM   16p11.2 Consortium
  TITLE     The Human-Specific BOLA2 Duplication Modifies Iron Homeostasis and
            Anemia Predisposition in Chromosome 16p11.2 Autism Individuals
  JOURNAL   Am J Hum Genet 105 (5), 947-958 (2019)
   PUBMED   31668704
  REMARK    GeneRIF: BOLA2 participates in iron homeostasis in vivo.
REFERENCE   4  (bases 1 to 399)
  AUTHORS   Frey,A.G., Palenchar,D.J., Wildemann,J.D. and Philpott,C.C.
  TITLE     A Glutaredoxin.BolA Complex Serves as an Iron-Sulfur Cluster
            Chaperone for the Cytosolic Cluster Assembly Machinery
  JOURNAL   J Biol Chem 291 (43), 22344-22356 (2016)
   PUBMED   27519415
  REMARK    GeneRIF: The Glrx3 and BolA2 bound and facilitated Fe-S
            incorporation into Ciapin1, a [2Fe-2S] protein functioning early in
            the cytosolic Fe-S assembly pathway. Thus, Glrx3.BolA is a [2Fe-2S]
            chaperone complex capable of transferring [2Fe-2S] clusters to
            apoproteins in human cells.
REFERENCE   5  (bases 1 to 399)
  AUTHORS   Nuttle,X., Giannuzzi,G., Duyzend,M.H., Schraiber,J.G., Narvaiza,I.,
            Sudmant,P.H., Penn,O., Chiatante,G., Malig,M., Huddleston,J.,
            Benner,C., Camponeschi,F., Ciofi-Baffoni,S., Stessman,H.A.,
            Marchetto,M.C., Denman,L., Harshman,L., Baker,C., Raja,A.,
            Penewit,K., Janke,N., Tang,W.J., Ventura,M., Banci,L.,
            Antonacci,F., Akey,J.M., Amemiya,C.T., Gage,F.H., Reymond,A. and
            Eichler,E.E.
  TITLE     Emergence of a Homo sapiens-specific gene family and chromosome
            16p11.2 CNV susceptibility
  JOURNAL   Nature 536 (7615), 205-209 (2016)
   PUBMED   27487209
  REMARK    GeneRIF: BOLA2 shows Homo sapiens-specific duplication; this
            occurred around 280,000 years ago, with the duplication nearly
            fixed early in the human lineage
REFERENCE   6  (bases 1 to 399)
  AUTHORS   Banci,L., Camponeschi,F., Ciofi-Baffoni,S. and Muzzioli,R.
  TITLE     Elucidating the Molecular Function of Human BOLA2 in GRX3-Dependent
            Anamorsin Maturation Pathway
  JOURNAL   J Am Chem Soc 137 (51), 16133-16143 (2015)
   PUBMED   26613676
  REMARK    GeneRIF: apo GRX3 and apo BOLA2 form a heterotrimeric complex,
            composed by two BOLA2 molecules and one GRX3 molecule
REFERENCE   7  (bases 1 to 399)
  AUTHORS   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. and Han,Z.G.
  TITLE     hBolA, novel non-classical secreted proteins, belonging to
            different BolA family with functional divergence
  JOURNAL   Mol Cell Biochem 317 (1-2), 61-68 (2008)
   PUBMED   18548201
  REMARK    GeneRIF: This study reported that all three human BolA proteins
            (hBolA1, hBolA2, and hBolA3) are novel non-classical secreted
            proteins identified with bioinformatics and molecular biology
            experiments.
REFERENCE   8  (bases 1 to 399)
  AUTHORS   Kasai,T., Inoue,M., Koshiba,S., Yabuki,T., Aoki,M., Nunokawa,E.,
            Seki,E., Matsuda,T., Matsuda,N., Tomo,Y., Shirouzu,M., Terada,T.,
            Obayashi,N., Hamana,H., Shinya,N., Tatsuguchi,A., Yasuda,S.,
            Yoshida,M., Hirota,H., Matsuo,Y., Tani,K., Suzuki,H., Arakawa,T.,
            Carninci,P., Kawai,J., Hayashizaki,Y., Kigawa,T. and Yokoyama,S.
  TITLE     Solution structure of a BolA-like protein from Mus musculus
  JOURNAL   Protein Sci 13 (2), 545-548 (2004)
   PUBMED   14718656
REFERENCE   9  (bases 1 to 399)
  AUTHORS   Ito,M., Takebayashi,S., Okumura,K., Ohkubo,T., Nishio,M.,
            Kawano,M., Komada,H., Ito,Y. and Tsurudome,M.
  TITLE     Up-regulated expression of a novel gene in activated human
            peripheral blood mononuclear cells that is a truncated paralog of
            the human system L-amino acid transporter 1
  JOURNAL   Int J Biochem Cell Biol 34 (9), 1152-1163 (2002)
   PUBMED   12009310
REFERENCE   10 (bases 1 to 399)
  AUTHORS   Wistow,G., Bernstein,S.L., Wyatt,M.K., Ray,S., Behal,A.,
            Touchman,J.W., Bouffard,G., Smith,D. and Peterson,K.
  TITLE     Expressed sequence tag analysis of human retina for the NEIBank
            Project: retbindin, an abundant, novel retinal cDNA and alternative
            splicing of other retina-preferred gene transcripts
  JOURNAL   Mol Vis 8, 196-204 (2002)
   PUBMED   12107411
  REMARK    Publication Status: Online-Only
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC133555.3.
            
            On Apr 19, 2021 this sequence version replaced NM_001031827.2.
            
            Summary: This gene is located within a region of a segmental
            duplication on chromosome 16 and is identical to BOLA2B (bolA
            family member 2B). The product of this gene belongs to a family of
            proteins that are widely conserved and may be involved in iron
            maturation. Related pseudogenes are found multiple different
            chromosomes. Alternative splicing results in multiple transcript
            variants. Transcripts initiating at this locus may extend into
            downstream SMG1 pseudogene 6 (SMG1P6) and encode fusion proteins
            with a C-terminus related to SMG1 phosphatidylinositol
            3-kinase-related kinase. A readthrough locus is represented with
            GeneID:107282092. [provided by RefSeq, Feb 2016].
            
            Transcript Variant: This variant (1) encodes isoform 1.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: BC022832.1, BI752396.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000330978.4/ ENSP00000331127.4
            RefSeq Select criteria :: based on manual assertion, conservation,
                                      expression
            ##RefSeq-Attributes-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-161               AC133555.3         76351-76511
            162-259             AC133555.3         76589-76686
            260-399             AC133555.3         76970-77109
FEATURES             Location/Qualifiers
     source          1..399
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="16"
                     /map="16p11.2"
     gene            1..399
                     /gene="BOLA2"
                     /gene_synonym="BOLA2A; BOLA2B; My016"
                     /note="bolA family member 2"
                     /db_xref="GeneID:552900"
                     /db_xref="HGNC:HGNC:29488"
                     /db_xref="MIM:613182"
     exon            1..161
                     /gene="BOLA2"
                     /gene_synonym="BOLA2A; BOLA2B; My016"
                     /inference="alignment:Splign:2.1.0"
     CDS             99..359
                     /gene="BOLA2"
                     /gene_synonym="BOLA2A; BOLA2B; My016"
                     /note="isoform 1 is encoded by transcript variant 1;
                     BolA-like protein 2 member A; bolA homolog 2"
                     /codon_start=1
                     /product="bolA-like protein 2 isoform 1"
                     /protein_id="NP_001026997.2"
                     /db_xref="CCDS:CCDS32426.2"
                     /db_xref="GeneID:552900"
                     /db_xref="HGNC:HGNC:29488"
                     /db_xref="MIM:613182"
                     /translation="MELSAEYLREKLQRDLEAEHVEVEDTTLNRCSCSFRVLVVSAKF
                     EGKPLLQRHRLVNACLAEELPHIHAFEQKTLTPDQWARERQK"
     exon            162..259
                     /gene="BOLA2"
                     /gene_synonym="BOLA2A; BOLA2B; My016"
                     /inference="alignment:Splign:2.1.0"
     exon            260..399
                     /gene="BOLA2"
                     /gene_synonym="BOLA2A; BOLA2B; My016"
                     /inference="alignment:Splign:2.1.0"
     regulatory      381..386
                     /regulatory_class="polyA_signal_sequence"
                     /gene="BOLA2"
                     /gene_synonym="BOLA2A; BOLA2B; My016"
                     /note="hexamer: ATTAAA"
     polyA_site      399
                     /gene="BOLA2"
                     /gene_synonym="BOLA2A; BOLA2B; My016"
                     /note="major polyA site"
ORIGIN      
        1 cagcggaagt ggctcctgta aggcagcaag gtagcgtggc cggcgcccga gctggggttg
       61 tgtccctgct gggctgccgt tccagctgga ctgccgccat ggaactcagc gccgaatacc
      121 tccgcgagaa gctgcagcgg gacctggagg cggagcatgt ggaggtggag gacacgaccc
      181 tcaaccgttg ctcctgtagc ttccgagtcc tggtggtgtc ggccaagttc gaggggaaac
      241 cgctgcttca gagacacagg ctggtgaacg cgtgcctagc agaagagctc ccgcacatcc
      301 atgcctttga acagaaaacc ctgaccccag accagtgggc acgtgagcga cagaaatgag
      361 ggactgggat ctgcacagcc attaaattat aaatctgga
//
