LOCUS       NP_852090                196 aa            linear   PRI 17-SEP-2007
DEFINITION  frataxin isoform 2 preproprotein [Homo sapiens].
ACCESSION   NP_852090
VERSION     NP_852090.1  GI:31742516
DBSOURCE    REFSEQ: accession NM_181425.1
KEYWORDS    .
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 196)
  AUTHORS   Condo,I., Ventura,N., Malisan,F., Rufini,A., Tomassini,B. and
            Testi,R.
  TITLE     In vivo maturation of human frataxin
  JOURNAL   Hum. Mol. Genet. 16 (13), 1534-1540 (2007)
   PUBMED   17468497
  REMARK    GeneRIF: analysis of frataxin and its maturation in human cells
            GeneRIF: In living cells, the main form of mature frataxin is
            generated by a proteolytic cleavage between Lys80 and Ser81,
            yielding a 130 aa protein (frataxin 81-210).
REFERENCE   2  (residues 1 to 196)
  AUTHORS   Yoon,T., Dizin,E. and Cowan,J.A.
  TITLE     N-terminal iron-mediated self-cleavage of human frataxin:
            regulation of iron binding and complex formation with target
            proteins
  JOURNAL   J. Biol. Inorg. Chem. 12 (4), 535-542 (2007)
   PUBMED   17285345
  REMARK    GeneRIF: N-terminus of Mitochondrial processing peptidase-processed
            frataxin shows a unique high-affinity iron site and that this iron
            center appears to mediate a self-cleavage reaction
REFERENCE   3  (residues 1 to 196)
  AUTHORS   Shan,Y., Napoli,E. and Cortopassi,G.
  TITLE     Mitochondrial frataxin interacts with ISD11 of the NFS1/ISCU
            complex and multiple mitochondrial chaperones
  JOURNAL   Hum. Mol. Genet. 16 (8), 929-941 (2007)
   PUBMED   17331979
  REMARK    GeneRIF: Frataxin interacts with ISD11 and multiple mitochondrial
            chaperones.
REFERENCE   4  (residues 1 to 196)
  AUTHORS   De Biase,I., Rasmussen,A., Endres,D., Al-Mahdawi,S., Monticelli,A.,
            Cocozza,S., Pook,M. and Bidichandani,S.I.
  TITLE     Progressive GAA expansions in dorsal root ganglia of Friedreich's
            ataxia patients
  JOURNAL   Ann. Neurol. 61 (1), 55-60 (2007)
   PUBMED   17262846
  REMARK    GeneRIF: Progressive GAA expansions of FXN protein in dorsal root
            ganglia of Friedreich's ataxia patients.
REFERENCE   5  (residues 1 to 196)
  AUTHORS   Greene,E., Mahishi,L., Entezam,A., Kumari,D. and Usdin,K.
  TITLE     Repeat-induced epigenetic changes in intron 1 of the frataxin gene
            and its consequences in Friedreich ataxia
  JOURNAL   Nucleic Acids Res. 35 (10), 3383-3390 (2007)
   PUBMED   17478498
  REMARK    GeneRIF: Identification of a region that is important for maximal
            FXN gene expression and show that repeat expansion leads to changes
            in DNA methylation and chromatin organization in this region.
REFERENCE   6  (residues 1 to 196)
  AUTHORS   Babcock,M., de Silva,D., Oaks,R., Davis-Kaplan,S., Jiralerspong,S.,
            Montermini,L., Pandolfo,M. and Kaplan,J.
  TITLE     Regulation of mitochondrial iron accumulation by Yfh1p, a putative
            homolog of frataxin
  JOURNAL   Science 276 (5319), 1709-1712 (1997)
   PUBMED   9180083
REFERENCE   7  (residues 1 to 196)
  AUTHORS   Bidichandani,S.I., Ashizawa,T. and Patel,P.I.
  TITLE     Atypical Friedreich ataxia caused by compound heterozygosity for a
            novel missense mutation and the GAA triplet-repeat expansion
  JOURNAL   Am. J. Hum. Genet. 60 (5), 1251-1256 (1997)
   PUBMED   9150176
REFERENCE   8  (residues 1 to 196)
  AUTHORS   Carvajal,J.J., Pook,M.A., dos Santos,M., Doudney,K., Hillermann,R.,
            Minogue,S., Williamson,R., Hsuan,J.J. and Chamberlain,S.
  TITLE     The Friedreich's ataxia gene encodes a novel
            phosphatidylinositol-4- phosphate 5-kinase
  JOURNAL   Nat. Genet. 14 (2), 157-162 (1996)
   PUBMED   8841185
REFERENCE   9  (residues 1 to 196)
  AUTHORS   Campuzano,V., Montermini,L., Molto,M.D., Pianese,L., Cossee,M.,
            Cavalcanti,F., Monros,E., Rodius,F., Duclos,F., Monticelli,A.,
            Zara,F., Canizares,J., Koutnikova,H., Bidichandani,S.I.,
            Gellera,C., Brice,A., Trouillas,P., De Michele,G., Filla,A., De
            Frutos,R., Palau,F., Patel,P.I., Di Donato,S., Mandel,J.L.,
            Cocozza,S., Koenig,M. and Pandolfo,M.
  TITLE     Friedreich's ataxia: autosomal recessive disease caused by an
            intronic GAA triplet repeat expansion
  JOURNAL   Science 271 (5254), 1423-1427 (1996)
   PUBMED   8596916
REFERENCE   10 (residues 1 to 196)
  AUTHORS   Montermini,L., Rodius,F., Pianese,L., Molto,M.D., Cossee,M.,
            Campuzano,V., Cavalcanti,F., Monticelli,A., Palau,F., Gyapay,G. et
            al.
  TITLE     The Friedreich ataxia critical region spans a 150-kb interval on
            chromosome 9q13
  JOURNAL   Am. J. Hum. Genet. 57 (5), 1061-1067 (1995)
   PUBMED   7485155
  REMARK    Erratum:[Am J Hum Genet 1995 Dec;57(6):1520]
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from BC048097.1, AI951739.1 and
            BC023633.2.
            
            Summary: This nuclear gene encodes a mitochondrial protein which
            belongs to FRATAXIN family. The protein functions in regulating
            mitochondrial iron transport and respiration. The expansion of
            intronic trinucleotide repeat GAA results in Friedreich ataxia.
            Alternative splicing occurs at this locus and two transcript
            variants encoding distinct isoforms have been identified.
            
            Transcript Variant: This variant (2) uses an alternate splice site
            in the 3' coding region, compared to variant 1, that results in a
            frameshift. It encodes isoform 2 which has a shorter and distinct
            C-terminus compared to isoform 1.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the
            Entrez Gene record to access additional publications.
FEATURES             Location/Qualifiers
     source          1..196
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="9"
                     /map="9q13-q21.1"
     Protein         1..196
                     /product="frataxin isoform 2 preproprotein"
     transit_peptide 1..41
                     /calculated_mol_wt=4327
     proprotein      42..196
                     /product="frataxin isoform 2 proprotein"
                     /calculated_mol_wt=17107
     mat_peptide     56..196
                     /product="frataxin isoform 2"
                     /calculated_mol_wt=15537
     Region          90..>160
                     /region_name="Frataxin"
                     /note="Frataxin is a nuclear-encoded mitochondrial protein
                     implicated in Friedreich's ataxia (FRDA), an human
                     autosomal recessive neurodegenerative disease; Frataxin is
                     found in eukaryotes and in purple bacteria; lack of
                     frataxin causes iron to accumulate in the; cd00503"
                     /db_xref="CDD:29607"
     Site            order(92,100..101,104,108,111..112,122,124)
                     /site_type="other"
                     /note="putative iron binding site"
                     /db_xref="CDD:29607"
     CDS             1..196
                     /gene="FXN"
                     /coded_by="NM_181425.1:356..946"
                     /GO_component="mitochondrion [PMID 9241270]"
                     /GO_function="electron carrier activity [PMID 9326946];
                     inositol or phosphatidylinositol kinase activity [PMID
                     8841185]; iron ion transporter activity [PMID 9326946]"
                     /GO_process="electron transport [PMID 9180083]; iron ion
                     homeostasis [PMID 9180083]; synaptic transmission [PMID
                     8841185]; vesicle-mediated transport [PMID 8841185]"
                     /note="isoform 2 preproprotein is encoded by transcript
                     variant 2"
                     /db_xref="GeneID:2395"
                     /db_xref="HGNC:3951"
                     /db_xref="MIM:606829"
ORIGIN      
        1 mwtlgrrava gllaspspaq aqtltrvprp aelaplcgrr glrtdidatc tprrassnqr
       61 glnqiwnvkk qsvylmnlrk sgtlghpgsl dettyerlae etldslaeff edladkpytf
      121 edydvsfgsg vltvklggdl gtyvinkqtp nkqiwlssps ryvvdlsvmt glgktgctpt
      181 tacpsmscwp qsslkp
//


