LOCUS       NM_213649               1556 bp    mRNA    linear   PRI 20-SEP-2024
DEFINITION  Homo sapiens sideroflexin 4 (SFXN4), transcript variant 1, mRNA.
ACCESSION   NM_213649 NM_213650
VERSION     NM_213649.2
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 1556)
  AUTHORS   Du,Z., Zhang,Z., Han,X., Xie,H., Yan,W., Tian,D., Liu,M. and Rao,C.
  TITLE     Comprehensive Analysis of Sideroflexin 4 in Hepatocellular
            Carcinoma by Bioinformatics and Experiments
  JOURNAL   Int J Med Sci 20 (10), 1300-1315 (2023)
   PUBMED   37786439
  REMARK    GeneRIF: Comprehensive Analysis of Sideroflexin 4 in Hepatocellular
            Carcinoma by Bioinformatics and Experiments.
            Publication Status: Online-Only
REFERENCE   2  (bases 1 to 1556)
  AUTHORS   Jackson,T.D., Crameri,J.J., Muellner-Wong,L., Frazier,A.E.,
            Palmer,C.S., Formosa,L.E., Hock,D.H., Fujihara,K.M., Stait,T.,
            Sharpe,A.J., Thorburn,D.R., Ryan,M.T., Stroud,D.A. and
            Stojanovski,D.
  TITLE     Sideroflexin 4 is a complex I assembly factor that interacts with
            the MCIA complex and is required for the assembly of the ND2 module
  JOURNAL   Proc Natl Acad Sci U S A 119 (13), e2115566119 (2022)
   PUBMED   35333655
  REMARK    GeneRIF: Sideroflexin 4 is a complex I assembly factor that
            interacts with the MCIA complex and is required for the assembly of
            the ND2 module.
REFERENCE   3  (bases 1 to 1556)
  AUTHORS   Morgenstern,M., Peikert,C.D., Lubbert,P., Suppanz,I., Klemm,C.,
            Alka,O., Steiert,C., Naumenko,N., Schendzielorz,A., Melchionda,L.,
            Muhlhauser,W.W.D., Knapp,B., Busch,J.D., Stiller,S.B.,
            Dannenmaier,S., Lindau,C., Licheva,M., Eickhorst,C., Galbusera,R.,
            Zerbes,R.M., Ryan,M.T., Kraft,C., Kozjak-Pavlovic,V., Drepper,F.,
            Dennerlein,S., Oeljeklaus,S., Pfanner,N., Wiedemann,N. and
            Warscheid,B.
  TITLE     Quantitative high-confidence human mitochondrial proteome and its
            dynamics in cellular context
  JOURNAL   Cell Metab 33 (12), 2464-2483 (2021)
   PUBMED   34800366
REFERENCE   4  (bases 1 to 1556)
  AUTHORS   Paul,B.T., Tesfay,L., Winkler,C.R., Torti,F.M. and Torti,S.V.
  TITLE     Sideroflexin 4 affects Fe-S cluster biogenesis, iron metabolism,
            mitochondrial respiration and heme biosynthetic enzymes
  JOURNAL   Sci Rep 9 (1), 19634 (2019)
   PUBMED   31873120
  REMARK    GeneRIF: Sideroflexin 4 affects Fe-S cluster biogenesis, iron
            metabolism, mitochondrial respiration and heme biosynthetic
            enzymes.
            Publication Status: Online-Only
REFERENCE   5  (bases 1 to 1556)
  AUTHORS   Sofou,K., Hedberg-Oldfors,C., Kollberg,G., Thomsen,C., Wiksell,A.,
            Oldfors,A. and Tulinius,M.
  TITLE     [Prenatal onset of mitochondrial disease is associated with
            sideroflexin 4 deficiency]
  JOURNAL   Mitochondrion 47, 76-81 (2019)
   PUBMED   31059822
  REMARK    GeneRIF: Prenatal onset of mitochondrial disease is associated with
            sideroflexin 4 deficiency.
REFERENCE   6  (bases 1 to 1556)
  AUTHORS   Hildick-Smith,G.J., Cooney,J.D., Garone,C., Kremer,L.S.,
            Haack,T.B., Thon,J.N., Miyata,N., Lieber,D.S., Calvo,S.E.,
            Akman,H.O., Yien,Y.Y., Huston,N.C., Branco,D.S., Shah,D.I.,
            Freedman,M.L., Koehler,C.M., Italiano,J.E. Jr., Merkenschlager,A.,
            Beblo,S., Strom,T.M., Meitinger,T., Freisinger,P., Donati,M.A.,
            Prokisch,H., Mootha,V.K., DiMauro,S. and Paw,B.H.
  TITLE     Macrocytic anemia and mitochondriopathy resulting from a defect in
            sideroflexin 4
  JOURNAL   Am J Hum Genet 93 (5), 906-914 (2013)
   PUBMED   24119684
  REMARK    GeneRIF: Our findings establish mutations in SFXN4 as a cause of
            mitochondriopathy and macrocytic anemia.
REFERENCE   7  (bases 1 to 1556)
  AUTHORS   Davila,S., Froeling,F.E., Tan,A., Bonnard,C., Boland,G.J.,
            Snippe,H., Hibberd,M.L. and Seielstad,M.
  TITLE     New genetic associations detected in a host response study to
            hepatitis B vaccine
  JOURNAL   Genes Immun 11 (3), 232-238 (2010)
   PUBMED   20237496
  REMARK    GeneRIF: Observational study of gene-disease association. (HuGE
            Navigator)
REFERENCE   8  (bases 1 to 1556)
  AUTHORS   Grupe,A., Li,Y., Rowland,C., Nowotny,P., Hinrichs,A.L., Smemo,S.,
            Kauwe,J.S., Maxwell,T.J., Cherny,S., Doil,L., Tacey,K., van
            Luchene,R., Myers,A., Wavrant-De Vrieze,F., Kaleem,M.,
            Hollingworth,P., Jehu,L., Foy,C., Archer,N., Hamilton,G.,
            Holmans,P., Morris,C.M., Catanese,J., Sninsky,J., White,T.J.,
            Powell,J., Hardy,J., O'Donovan,M., Lovestone,S., Jones,L.,
            Morris,J.C., Thal,L., Owen,M., Williams,J. and Goate,A.
  TITLE     A scan of chromosome 10 identifies a novel locus showing strong
            association with late-onset Alzheimer disease
  JOURNAL   Am J Hum Genet 78 (1), 78-88 (2006)
   PUBMED   16385451
  REMARK    GeneRIF: Observational study of gene-disease association. (HuGE
            Navigator)
REFERENCE   9  (bases 1 to 1556)
  AUTHORS   Deloukas,P., Earthrowl,M.E., Grafham,D.V., Rubenfield,M.,
            French,L., Steward,C.A., Sims,S.K., Jones,M.C., Searle,S.,
            Scott,C., Howe,K., Hunt,S.E., Andrews,T.D., Gilbert,J.G.,
            Swarbreck,D., Ashurst,J.L., Taylor,A., Battles,J., Bird,C.P.,
            Ainscough,R., Almeida,J.P., Ashwell,R.I., Ambrose,K.D.,
            Babbage,A.K., Bagguley,C.L., Bailey,J., Banerjee,R., Bates,K.,
            Beasley,H., Bray-Allen,S., Brown,A.J., Brown,J.Y., Burford,D.C.,
            Burrill,W., Burton,J., Cahill,P., Camire,D., Carter,N.P.,
            Chapman,J.C., Clark,S.Y., Clarke,G., Clee,C.M., Clegg,S., Corby,N.,
            Coulson,A., Dhami,P., Dutta,I., Dunn,M., Faulkner,L., Frankish,A.,
            Frankland,J.A., Garner,P., Garnett,J., Gribble,S., Griffiths,C.,
            Grocock,R., Gustafson,E., Hammond,S., Harley,J.L., Hart,E.,
            Heath,P.D., Ho,T.P., Hopkins,B., Horne,J., Howden,P.J., Huckle,E.,
            Hynds,C., Johnson,C., Johnson,D., Kana,A., Kay,M., Kimberley,A.M.,
            Kershaw,J.K., Kokkinaki,M., Laird,G.K., Lawlor,S., Lee,H.M.,
            Leongamornlert,D.A., Laird,G., Lloyd,C., Lloyd,D.M., Loveland,J.,
            Lovell,J., McLaren,S., McLay,K.E., McMurray,A.,
            Mashreghi-Mohammadi,M., Matthews,L., Milne,S., Nickerson,T.,
            Nguyen,M., Overton-Larty,E., Palmer,S.A., Pearce,A.V., Peck,A.I.,
            Pelan,S., Phillimore,B., Porter,K., Rice,C.M., Rogosin,A.,
            Ross,M.T., Sarafidou,T., Sehra,H.K., Shownkeen,R., Skuce,C.D.,
            Smith,M., Standring,L., Sycamore,N., Tester,J., Thorpe,A.,
            Torcasso,W., Tracey,A., Tromans,A., Tsolas,J., Wall,M., Walsh,J.,
            Wang,H., Weinstock,K., West,A.P., Willey,D.L., Whitehead,S.L.,
            Wilming,L., Wray,P.W., Young,L., Chen,Y., Lovering,R.C.,
            Moschonas,N.K., Siebert,R., Fechtel,K., Bentley,D., Durbin,R.,
            Hubbard,T., Doucette-Stamm,L., Beck,S., Smith,D.R. and Rogers,J.
  TITLE     The DNA sequence and comparative analysis of human chromosome 10
  JOURNAL   Nature 429 (6990), 375-381 (2004)
   PUBMED   15164054
REFERENCE   10 (bases 1 to 1556)
  AUTHORS   Zheng,H., Ji,C., Zou,X., Wu,M., Jin,Z., Yin,G., Li,J., Feng,C.,
            Cheng,H., Gu,S., Xie,Y. and Mao,Y.
  TITLE     Molecular cloning and characterization of a novel human putative
            transmembrane protein homologous to mouse sideroflexin associated
            with sideroblastic anemia
  JOURNAL   DNA Seq 14 (5), 369-373 (2003)
   PUBMED   14756423
  REMARK    GeneRIF: we isolated a cDNA encoding a novel sideroflexin protein
            (SFXN4), which showed 59% identity and 71% similarity to mouse
            sideroflexin4.
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AL355861.19 and AL355598.26.
            This sequence is a reference standard in the RefSeqGene project.
            
            On May 17, 2019 this sequence version replaced NM_213649.1.
            
            Summary: This gene encodes a member of the sideroflexin family. The
            encoded protein is a transmembrane protein of the inner
            mitochondrial membrane, and is required for mitochondrial
            respiratory homeostasis and erythropoiesis. Mutations in this gene
            are associated with mitochondriopathy and macrocytic anemia.
            Alternatively spliced transcript variants have been found in this
            gene. [provided by RefSeq, Jan 2014].
            
            Transcript Variant: This variant (1) encodes a functional protein.
            
            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 :: SRR5189661.89585.1,
                                           SRR5189658.19920.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000355697.7/ ENSP00000347924.2
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-178               AL355861.19        6466-6643           c
            179-244             AL355861.19        5060-5125           c
            245-319             AL355861.19        3269-3343           c
            320-329             AL355861.19        2001-2010           c
            330-346             AL355598.26        128212-128228       c
            347-401             AL355598.26        128072-128126       c
            402-427             AL355598.26        126885-126910       c
            428-481             AL355598.26        125166-125219       c
            482-538             AL355598.26        125028-125084       c
            539-604             AL355598.26        124825-124890       c
            605-683             AL355598.26        123835-123913       c
            684-799             AL355598.26        122219-122334       c
            800-885             AL355598.26        114932-115017       c
            886-1003            AL355598.26        113393-113510       c
            1004-1556           AL355598.26        107924-108476       c
FEATURES             Location/Qualifiers
     source          1..1556
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="10"
                     /map="10q26.11"
     gene            1..1556
                     /gene="SFXN4"
                     /gene_synonym="BCRM1; COXPD18; SLC56A4"
                     /note="sideroflexin 4"
                     /db_xref="GeneID:119559"
                     /db_xref="HGNC:HGNC:16088"
                     /db_xref="MIM:615564"
     exon            1..178
                     /gene="SFXN4"
                     /gene_synonym="BCRM1; COXPD18; SLC56A4"
                     /inference="alignment:Splign:2.1.0"
     CDS             68..1081
                     /gene="SFXN4"
                     /gene_synonym="BCRM1; COXPD18; SLC56A4"
                     /note="breast cancer resistance marker 1"
                     /codon_start=1
                     /product="sideroflexin-4"
                     /protein_id="NP_998814.1"
                     /db_xref="CCDS:CCDS7610.1"
                     /db_xref="GeneID:119559"
                     /db_xref="HGNC:HGNC:16088"
                     /db_xref="MIM:615564"
                     /translation="MSLEQEEETQPGRLLGRRDAVPAFIEPNVRFWITERQSFIRRFL
                     QWTELLDPTNVFISVESIENSRQLLCTNEDVSSPASADQRIQEAWKRSLATVHPDSSN
                     LIPKLFRPAAFLPFMAPTVFLSMTPLKGIKSVILPQVFLCAYMAAFNSINGNRSYTCK
                     PLERSLLMAGAVASSTFLGVIPQFVQMKYGLTGPWIKRLLPVIFLVQASGMNVYMSRS
                     LESIKGIAVMDKEGNVLGHSRIAGTKAVRETLASRIVLFGTSALIPEVFTYFFKRTQY
                     FRKNPGSLWILKLSCTVLAMGLMVPFSFSIFPQIGQIQYCSLEEKIQSPTEETEIFYH
                     RGV"
     exon            179..244
                     /gene="SFXN4"
                     /gene_synonym="BCRM1; COXPD18; SLC56A4"
                     /inference="alignment:Splign:2.1.0"
     exon            245..319
                     /gene="SFXN4"
                     /gene_synonym="BCRM1; COXPD18; SLC56A4"
                     /inference="alignment:Splign:2.1.0"
     exon            320..346
                     /gene="SFXN4"
                     /gene_synonym="BCRM1; COXPD18; SLC56A4"
                     /inference="alignment:Splign:2.1.0"
     exon            347..401
                     /gene="SFXN4"
                     /gene_synonym="BCRM1; COXPD18; SLC56A4"
                     /inference="alignment:Splign:2.1.0"
     exon            402..427
                     /gene="SFXN4"
                     /gene_synonym="BCRM1; COXPD18; SLC56A4"
                     /inference="alignment:Splign:2.1.0"
     exon            428..481
                     /gene="SFXN4"
                     /gene_synonym="BCRM1; COXPD18; SLC56A4"
                     /inference="alignment:Splign:2.1.0"
     exon            482..538
                     /gene="SFXN4"
                     /gene_synonym="BCRM1; COXPD18; SLC56A4"
                     /inference="alignment:Splign:2.1.0"
     exon            539..604
                     /gene="SFXN4"
                     /gene_synonym="BCRM1; COXPD18; SLC56A4"
                     /inference="alignment:Splign:2.1.0"
     exon            605..683
                     /gene="SFXN4"
                     /gene_synonym="BCRM1; COXPD18; SLC56A4"
                     /inference="alignment:Splign:2.1.0"
     exon            684..799
                     /gene="SFXN4"
                     /gene_synonym="BCRM1; COXPD18; SLC56A4"
                     /inference="alignment:Splign:2.1.0"
     exon            800..885
                     /gene="SFXN4"
                     /gene_synonym="BCRM1; COXPD18; SLC56A4"
                     /inference="alignment:Splign:2.1.0"
     exon            886..1003
                     /gene="SFXN4"
                     /gene_synonym="BCRM1; COXPD18; SLC56A4"
                     /inference="alignment:Splign:2.1.0"
     exon            1004..1556
                     /gene="SFXN4"
                     /gene_synonym="BCRM1; COXPD18; SLC56A4"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1374..1379
                     /regulatory_class="polyA_signal_sequence"
                     /gene="SFXN4"
                     /gene_synonym="BCRM1; COXPD18; SLC56A4"
                     /note="hexamer: AATAAA"
     polyA_site      1410
                     /gene="SFXN4"
                     /gene_synonym="BCRM1; COXPD18; SLC56A4"
                     /note="major polyA site"
ORIGIN      
        1 ggggctcgcc gcccggctcc tcctccacgc gcggcctggc ggcggcggcc actctaacca
       61 gcgcaaaatg tccctggaac aggaggagga aacgcaacct gggcggctcc taggacgcag
      121 agacgccgtc cccgccttca ttgagcccaa cgtgcgcttc tggatcaccg agcgccaatc
      181 ctttattcga cgatttcttc aatggacaga attattagat cctacaaatg tgttcatttc
      241 agttgaaagt atagaaaact cgaggcaact attgtgcaca aatgaagatg tttccagccc
      301 tgcctcggcg gaccaaagga tacaagaagc ttggaagcgg agtcttgcaa cagtgcatcc
      361 cgacagcagc aacctgatcc ccaagctttt tcgacctgca gcgttcctgc ctttcatggc
      421 acccacggta tttttgtcaa tgacgccact gaaagggatc aagtccgtga ttttacctca
      481 ggttttcctc tgtgcctaca tggcagcgtt caacagcatc aatggaaaca gaagttacac
      541 ttgtaagcca ctagaaagat cattactaat ggcgggagcc gttgcttctt caactttctt
      601 aggagtaatc cctcagtttg tccagatgaa gtatggcctg actggccctt ggattaaaag
      661 actcttacct gtgatcttcc tcgtgcaagc cagtggaatg aatgtctaca tgtcccgaag
      721 tcttgaatcc attaagggga ttgcggtcat ggacaaggaa ggcaatgtcc tgggtcattc
      781 cagaattgct gggacaaagg ctgttagaga aacgctagca tccagaatag tgctgtttgg
      841 gacctcagct ctgattcctg aagtcttcac ctactttttt aaaaggaccc agtatttcag
      901 gaaaaaccca gggtcattgt ggattttgaa actgtcttgt actgtcctgg caatgggact
      961 gatggtgcca ttttctttta gtatatttcc acagattgga cagatacagt actgtagtct
     1021 tgaagagaaa attcagtctc caacagaaga aacagaaatc ttttatcaca gaggggtgta
     1081 ggcgtgagtt ttaggtgaat ttatgtggtt cctgcttgaa aaccttcccc tctccaggtt
     1141 cggtttagag aactttgcca caggtcttct ggggacccca gaggtgtctg tgctgacaag
     1201 gcgacttcag attccatact gagatcgttc ccaggctggc gtctctgggg tttttaaggc
     1261 tggctggaga agacagtggg agggtgcccc gtctgacacc cctggggttg ctgagggaac
     1321 ggttggagtg gggatcggcc tgcgaaagga tactgtgaaa tcactaatta actaataaac
     1381 ctgtctcaag ttgaggattt gaagaaagaa cacagagtcc accgtgccca ggacacaggt
     1441 gttaaatgga taggccgtct caagcggaac acgtacccct ggggcgctgt ttacgccctc
     1501 caaccccaaa agcaatcttg tttccttact cagtgtcctc cattctagac agctac
//
