LOCUS       NM_022968                699 bp    mRNA    linear   PRI 02-APR-2024
DEFINITION  Homo sapiens small EDRK-rich factor 1A (SERF1A), transcript variant
            2, mRNA.
ACCESSION   NM_022968 XM_001713905
VERSION     NM_022968.2
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 699)
  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 699)
  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 699)
  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 699)
  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 699)
  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 699)
  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 699)
  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 699)
  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 699)
  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 699)
  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 and CK904564.1.
            
            On Sep 3, 2019 this sequence version replaced NM_022968.1.
            
            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 (2) has an alternate 3' exon, as
            compared to variant 1. The resulting isoform (2) has a shorter and
            distinct C-terminus, as compared to 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 :: CK904563.1, BM054679.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000317633.14/ ENSP00000321791.8
            RefSeq Select criteria :: based on conservation, expression
            ##RefSeq-Attributes-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-74                AC139834.2         150279-150352
            75-623              CK904564.1         1-549
            624-699             AC139834.2         157650-157725
FEATURES             Location/Qualifiers
     source          1..699
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="5"
                     /map="5q13.2"
     gene            1..699
                     /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..390
                     /gene="SERF1A"
                     /gene_synonym="4F5; FAM2A; H4F5; SERF1; SMAM1"
                     /note="isoform 2 is encoded by transcript variant 2; 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 2"
                     /protein_id="NP_075257.1"
                     /db_xref="CCDS:CCDS47229.1"
                     /db_xref="GeneID:8293"
                     /db_xref="HGNC:HGNC:10755"
                     /db_xref="MIM:603011"
                     /translation="MARGNQRELARQKNMKKTQEISKGKRKEDSLTASQRKQRDSEIM
                     QEKQKAANEKKSMQTREK"
     exon            209..317
                     /gene="SERF1A"
                     /gene_synonym="4F5; FAM2A; H4F5; SERF1; SMAM1"
                     /inference="alignment:Splign:2.1.0"
     exon            318..699
                     /gene="SERF1A"
                     /gene_synonym="4F5; FAM2A; H4F5; SERF1; SMAM1"
                     /inference="alignment:Splign:2.1.0"
     regulatory      570..575
                     /regulatory_class="polyA_signal_sequence"
                     /gene="SERF1A"
                     /gene_synonym="4F5; FAM2A; H4F5; SERF1; SMAM1"
                     /note="hexamer: AATAAA"
     polyA_site      594
                     /gene="SERF1A"
                     /gene_synonym="4F5; FAM2A; H4F5; SERF1; SMAM1"
                     /note="major polyA site"
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 agcagaggga ctctgagatc atgcaagaaa agcagaaggc agctaatgag
      361 aagaagtcta tgcagacaag agaaaagtga tgactggcta tttggaaaac ctgggtgcta
      421 ctgccaactg ggtgtatcat aagctctaag atcaagattt tgtagagtgg acagtcatta
      481 catatgttat aacttatcct ttaaaaacta ttttaaactt tatcctttca gctttactta
      541 gtgcgatgtt ttagaagcag tcttcaaaga ataaaacact aaccatgcat gtgacatatt
      601 ggtgaacatt atttttatta ttgaacattc atatataatt tattaggtaa tatgatcaga
      661 taataggatc tcttatataa taaagaatct ttgtcatca
//
