LOCUS       NM_021967               1907 bp    mRNA    linear   PRI 03-APR-2024
DEFINITION  Homo sapiens small EDRK-rich factor 1A (SERF1A), transcript variant
            1, mRNA.
ACCESSION   NM_021967 XM_376398
VERSION     NM_021967.4
KEYWORDS    RefSeq.
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 1907)
  AUTHORS   Tsai,T.Y., Jhang,W.T., Hsu,H.K., Chan,Y.T., Chang,C.F. and
            Chen,Y.R.
  TITLE     Amyloid Modifier SERF1a Accelerates Alzheimer's Amyloid-beta
            Fibrillization and Exacerbates the Cytotoxicity
  JOURNAL   ACS Chem Neurosci 15 (3), 479-490 (2024)
   PUBMED   38211979
  REMARK    GeneRIF: Amyloid Modifier SERF1a Accelerates Alzheimer's
            Amyloid-beta Fibrillization and Exacerbates the Cytotoxicity.
REFERENCE   2  (bases 1 to 1907)
  AUTHORS   Pras,A., Houben,B., Aprile,F.A., Seinstra,R., Gallardo,R.,
            Janssen,L., Hogewerf,W., Gallrein,C., De Vleeschouwer,M.,
            Mata-Cabana,A., Koopman,M., Stroo,E., de Vries,M., Louise
            Edwards,S., Kirstein,J., Vendruscolo,M., Falsone,S.F., Rousseau,F.,
            Schymkowitz,J. and Nollen,E.A.A.
  TITLE     The cellular modifier MOAG-4/SERF drives amyloid formation through
            charge complementation
  JOURNAL   EMBO J 40 (21), e107568 (2021)
   PUBMED   34617299
  REMARK    GeneRIF: The cellular modifier MOAG-4/SERF drives amyloid formation
            through charge complementation.
REFERENCE   3  (bases 1 to 1907)
  AUTHORS   Luck,K., Kim,D.K., Lambourne,L., Spirohn,K., Begg,B.E., Bian,W.,
            Brignall,R., Cafarelli,T., Campos-Laborie,F.J., Charloteaux,B.,
            Choi,D., Cote,A.G., Daley,M., Deimling,S., Desbuleux,A., Dricot,A.,
            Gebbia,M., Hardy,M.F., Kishore,N., Knapp,J.J., Kovacs,I.A.,
            Lemmens,I., Mee,M.W., Mellor,J.C., Pollis,C., Pons,C.,
            Richardson,A.D., Schlabach,S., Teeking,B., Yadav,A., Babor,M.,
            Balcha,D., Basha,O., Bowman-Colin,C., Chin,S.F., Choi,S.G.,
            Colabella,C., Coppin,G., D'Amata,C., De Ridder,D., De Rouck,S.,
            Duran-Frigola,M., Ennajdaoui,H., Goebels,F., Goehring,L., Gopal,A.,
            Haddad,G., Hatchi,E., Helmy,M., Jacob,Y., Kassa,Y., Landini,S.,
            Li,R., van Lieshout,N., MacWilliams,A., Markey,D., Paulson,J.N.,
            Rangarajan,S., Rasla,J., Rayhan,A., Rolland,T., San-Miguel,A.,
            Shen,Y., Sheykhkarimli,D., Sheynkman,G.M., Simonovsky,E., Tasan,M.,
            Tejeda,A., Tropepe,V., Twizere,J.C., Wang,Y., Weatheritt,R.J.,
            Weile,J., Xia,Y., Yang,X., Yeger-Lotem,E., Zhong,Q., Aloy,P.,
            Bader,G.D., De Las Rivas,J., Gaudet,S., Hao,T., Rak,J.,
            Tavernier,J., Hill,D.E., Vidal,M., Roth,F.P. and Calderwood,M.A.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   4  (bases 1 to 1907)
  AUTHORS   Merle,D.A., Witternigg,A., Tam-Amersdorfer,C., Hartlmuller,C.,
            Spreitzer,E., Schrank,E., Wagner-Lichtenegger,S., Werzer,O.,
            Zangger,K., Kungl,A.J., Madl,T., Meyer,N.H. and Falsone,S.F.
  TITLE     Increased Aggregation Tendency of Alpha-Synuclein in a Fully
            Disordered Protein Complex
  JOURNAL   J Mol Biol 431 (14), 2581-2598 (2019)
   PUBMED   31034892
REFERENCE   5  (bases 1 to 1907)
  AUTHORS   Brkusanin,M., Kosac,A., Jovanovic,V., Pesovic,J., Brajuskovic,G.,
            Dimitrijevic,N., Todorovic,S., Romac,S., Milic Rasic,V. and
            Savic-Pavicevic,D.
  TITLE     Joint effect of the SMN2 and SERF1A genes on childhood-onset types
            of spinal muscular atrophy in Serbian patients
  JOURNAL   J Hum Genet 60 (11), 723-728 (2015)
   PUBMED   26311540
  REMARK    GeneRIF: Inverse correlation was observed between SMN2, SERF1A and
            NAIP copy number polymorphism and spinal muscular atrophy type.
REFERENCE   6  (bases 1 to 1907)
  AUTHORS   van Ham,T.J., Holmberg,M.A., van der Goot,A.T., Teuling,E.,
            Garcia-Arencibia,M., Kim,H.E., Du,D., Thijssen,K.L., Wiersma,M.,
            Burggraaff,R., van Bergeijk,P., van Rheenen,J., Jerre van Veluw,G.,
            Hofstra,R.M., Rubinsztein,D.C. and Nollen,E.A.
  TITLE     Identification of MOAG-4/SERF as a regulator of age-related
            proteotoxicity
  JOURNAL   Cell 142 (4), 601-612 (2010)
   PUBMED   20723760
  REMARK    GeneRIF: The human orthologs of MOAG-4, SERF2 and SERF1A, are
            ubiquitously expressed, consistent with a role in a general
            cellular pathway.
REFERENCE   7  (bases 1 to 1907)
  AUTHORS   Arkblad,E., Tulinius,M., Kroksmark,A.K., Henricsson,M. and Darin,N.
  TITLE     A population-based study of genotypic and phenotypic variability in
            children with spinal muscular atrophy
  JOURNAL   Acta Paediatr 98 (5), 865-872 (2009)
   PUBMED   19154529
  REMARK    GeneRIF: Observational study of gene-disease association. (HuGE
            Navigator)
REFERENCE   8  (bases 1 to 1907)
  AUTHORS   Endrizzi,M., Huang,S., Scharf,J.M., Kelter,A.R., Wirth,B.,
            Kunkel,L.M., Miller,W. and Dietrich,W.F.
  TITLE     Comparative sequence analysis of the mouse and human Lgn1/SMA
            interval
  JOURNAL   Genomics 60 (2), 137-151 (1999)
   PUBMED   10486205
REFERENCE   9  (bases 1 to 1907)
  AUTHORS   Scharf,J.M., Endrizzi,M.G., Wetter,A., Huang,S., Thompson,T.G.,
            Zerres,K., Dietrich,W.F., Wirth,B. and Kunkel,L.M.
  TITLE     Identification of a candidate modifying gene for spinal muscular
            atrophy by comparative genomics
  JOURNAL   Nat Genet 20 (1), 83-86 (1998)
   PUBMED   9731538
REFERENCE   10 (bases 1 to 1907)
  AUTHORS   Chen,Q., Baird,S.D., Mahadevan,M., Besner-Johnston,A., Farahani,R.,
            Xuan,J., Kang,X., Lefebvre,C., Ikeda,J.E., Korneluk,R.G. and
            MacKenzie,A.E.
  TITLE     Sequence of a 131-kb region of 5q13.1 containing the spinal
            muscular atrophy candidate genes SMN and NAIP
  JOURNAL   Genomics 48 (1), 121-127 (1998)
   PUBMED   9503025
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC139834.2.
            
            On Aug 13, 2020 this sequence version replaced NM_021967.3.
            
            Summary: This gene is part of a 500 kb inverted duplication on
            chromosome 5q13. This duplicated region contains at least four
            genes and repetitive elements which make it prone to rearrangements
            and deletions. The repetitiveness and complexity of the sequence
            have also caused difficulty in determining the organization of this
            genomic region. The duplication region includes both a telomeric
            and a centromeric copy of this gene. Deletions of this gene, the
            telomeric copy, often accompany deletions of the neighboring SMN1
            gene in spinal muscular atrophy (SMA) patients, and so it is
            thought that this gene may be a modifier of the SMA phenotype. The
            function of this protein is not known; however, it bears low-level
            homology with the RNA-binding domain of matrin-cyclophilin, a
            protein which colocalizes with small nuclear ribonucleoproteins
            (snRNPs) and the SMN1 gene product. Alternatively spliced
            transcripts have been documented but it is unclear whether
            alternative splicing occurs for both the centromeric and telomeric
            copies of the gene. [provided by RefSeq, Jul 2008].
            
            Transcript Variant: This variant (1) encodes the longer 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 :: BC035932.1, SRR14038197.92860.1
                                           [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-208               AC139834.2         150279-150486
            209-317             AC139834.2         151435-151543
            318-1907            AC139834.2         166551-168140
FEATURES             Location/Qualifiers
     source          1..1907
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="5"
                     /map="5q13.2"
     gene            1..1907
                     /gene="SERF1A"
                     /gene_synonym="4F5; FAM2A; H4F5; SERF1; SMAM1"
                     /note="small EDRK-rich factor 1A"
                     /db_xref="GeneID:8293"
                     /db_xref="HGNC:HGNC:10755"
                     /db_xref="MIM:603011"
     exon            1..208
                     /gene="SERF1A"
                     /gene_synonym="4F5; FAM2A; H4F5; SERF1; SMAM1"
                     /inference="alignment:Splign:2.1.0"
     CDS             202..534
                     /gene="SERF1A"
                     /gene_synonym="4F5; FAM2A; H4F5; SERF1; SMAM1"
                     /note="isoform 1 is encoded by transcript variant 1; SMA
                     modifier 1; spinal muscular atrophy-related gene H4F5;
                     small EDRK-rich factor 1; protein 4F5; small EDRK-rich
                     factor 1A (telomeric)"
                     /codon_start=1
                     /product="small EDRK-rich factor 1 isoform 1"
                     /protein_id="NP_068802.1"
                     /db_xref="CCDS:CCDS47228.1"
                     /db_xref="GeneID:8293"
                     /db_xref="HGNC:HGNC:10755"
                     /db_xref="MIM:603011"
                     /translation="MARGNQRELARQKNMKKTQEISKGKRKEDSLTASQRKQSSGGQK
                     SESKMSAGPHLPLKAPRENPCFPLPAAGGSRYYLAYGSITPISAFVFVVFFSVFFPSF
                     YEDFCCWI"
     exon            209..317
                     /gene="SERF1A"
                     /gene_synonym="4F5; FAM2A; H4F5; SERF1; SMAM1"
                     /inference="alignment:Splign:2.1.0"
     exon            318..1907
                     /gene="SERF1A"
                     /gene_synonym="4F5; FAM2A; H4F5; SERF1; SMAM1"
                     /inference="alignment:Splign:2.1.0"
ORIGIN      
        1 agtgacgcgc cggccatgcc ggcggctgtt gtcgggcctc cagcgggcgg ggccgttggc
       61 ggagcagagg ggaggcgcag ccgggcggag ggcccacgag ggctcagcct tcccggtcag
      121 cggtggtgac ggtatcccag agtgccagag aaccgttgct tttccgagtt gctcttcttc
      181 caggctccgt tggtggtcgg catggcccgt ggaaatcaac gagaacttgc ccgccagaaa
      241 aacatgaaga aaacccagga aattagcaag ggaaagagga aagaggatag cttgactgcc
      301 tctcagagaa agcagagttc tggaggccag aaatctgaga gcaagatgtc agctgggcca
      361 cacctccctc tgaaggctcc aagggagaat ccttgctttc ctcttccagc tgctggtggc
      421 tccaggtatt acttggctta tggcagcata actcctatct ctgcctttgt ctttgtggtc
      481 ttcttttctg tcttcttccc ttctttttat gaggactttt gctgttggat ttaggttcca
      541 ttctaaccta ggatgatctc atttggaaat ccttaatttc atctacaaaa actgttttcc
      601 caaataggtc acattcacgc atatcagatg gacagatgta tcattttggg gtccaccatt
      661 caacccacta caaggagttt tttaaacaaa aataggaaac ttagatgtaa cttagcactt
      721 tttttttttt tttttgagat ggagtctcac tctgtcacca gactggagtg cagtggtgcc
      781 atctcagctc catgcaacct ctgcctcctg ggttcaagca gttctcttgc ctcagcctcc
      841 tgggtagctg ggattacagg cacgcgctgc cacacccagg taatttattt attttttttt
      901 tgagacagag tctcgcactg ttgcccaggc tggactgcag tggcgtgatc tctgctcact
      961 gcaacctccg cctcccgggt tcaagcgatt ctccagcctc agcttcctga gtagatggga
     1021 ttacaggcgc ctgccaccac gcccagctaa ttttttgtat tcttagtaga gatggggttt
     1081 caccatgttg gccaggctgg tctccatctc ctgacctcgt gattcacccg cctcggcctc
     1141 ccaaagtgct gggattacag gcgtgagtca cagcccccgg ccataattta gcactttaaa
     1201 aaataatagc catgttgggc caggcgtggt ggctcatgcc tgtaatctga gcactttggg
     1261 agaccaaggc gggtagatcc cttgtgccca ggagttcaag accagcctgg gcaacatggc
     1321 gaaaccccat ttctactaaa aatacaaaaa ttagctgggg cgaggggata ggccgagttc
     1381 cgggtgtaag ggggccatta gggagagcag agcgaggcag ctgatcttcc ggattggggg
     1441 ccttgcccgg aagctggacc tcacggagat gaaacggaag atgcacgagg atatgatctc
     1501 catacagaac tttctcatct acgtggccct gctgcgagtc actccattta tcttaaagaa
     1561 attggacagc atatgaagat tggacatcac atgtgaatgc atgatatgaa gagcctggtt
     1621 acagtttcta ctgttctctg caagtaaata ggcccagaaa ggtataagag actctttgaa
     1681 tggacataaa aattctgctt gttaagaaca agttgagctc tggtaactga tcttaatagc
     1741 taaaatataa aaatatttgg gaagtctgaa atgaggtctc ctggccctgg tgtgccctta
     1801 atgcctgtga cagttggcct ctgtgaatat tggtataatt gtaaataatg tcaaactcca
     1861 ttttctagca agtattaata attaagggaa gtatgtctga aatggca
//
