LOCUS       NM_001136570            1533 bp    mRNA    linear   PRI 02-APR-2024
DEFINITION  Homo sapiens family with sequence similarity 47 member E (FAM47E),
            transcript variant 1, mRNA.
ACCESSION   NM_001136570 XM_001720937 XM_001720938 XM_001721008 XM_001721012
            XM_001722510 XM_001722512
VERSION     NM_001136570.3
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 1533)
  AUTHORS   Chakrapani,B., Khan,M.I.K., Kadumuri,R.V., Gupta,S., Verma,M.,
            Awasthi,S., Govindaraju,G., Mahesh,A., Rajavelu,A., Chavali,S. and
            Dhayalan,A.
  TITLE     The uncharacterized protein FAM47E interacts with PRMT5 and
            regulates its functions
  JOURNAL   Life Sci Alliance 4 (3), e202000699 (2020)
   PUBMED   33376131
  REMARK    GeneRIF: The uncharacterized protein FAM47E interacts with PRMT5
            and regulates its functions.
            Publication Status: Online-Only
REFERENCE   2  (bases 1 to 1533)
  AUTHORS   Chen,Y., Yuan,X., Cao,B., Wei,Q., Ou,R., Yang,J., Chen,X., Zhao,B.,
            Song,W., Wu,Y. and Shang,H.
  TITLE     No association of FAM47E rs6812193, SCARB2 rs6825004 and STX1B
            rs4889603 polymorphisms with Parkinson's disease in a Chinese Han
            population
  JOURNAL   J Neural Transm (Vienna) 122 (11), 1547-1552 (2015)
   PUBMED   26224037
  REMARK    GeneRIF: Findings suggested that STX1B rs4889603, FAM47E rs6812193
            and SCARB2 rs6825004 do not confer a significant risk for
            Parkinson's disease
REFERENCE   3  (bases 1 to 1533)
  AUTHORS   Ledo,N., Ko,Y.A., Park,A.S., Kang,H.M., Han,S.Y., Choi,P. and
            Susztak,K.
  TITLE     Functional genomic annotation of genetic risk loci highlights
            inflammation and epithelial biology networks in CKD
  JOURNAL   J Am Soc Nephrol 26 (3), 692-714 (2015)
   PUBMED   25231882
REFERENCE   4  (bases 1 to 1533)
  AUTHORS   Nalls,M.A., Pankratz,N., Lill,C.M., Do,C.B., Hernandez,D.G.,
            Saad,M., DeStefano,A.L., Kara,E., Bras,J., Sharma,M., Schulte,C.,
            Keller,M.F., Arepalli,S., Letson,C., Edsall,C., Stefansson,H.,
            Liu,X., Pliner,H., Lee,J.H., Cheng,R., Ikram,M.A., Ioannidis,J.P.,
            Hadjigeorgiou,G.M., Bis,J.C., Martinez,M., Perlmutter,J.S.,
            Goate,A., Marder,K., Fiske,B., Sutherland,M., Xiromerisiou,G.,
            Myers,R.H., Clark,L.N., Stefansson,K., Hardy,J.A., Heutink,P.,
            Chen,H., Wood,N.W., Houlden,H., Payami,H., Brice,A., Scott,W.K.,
            Gasser,T., Bertram,L., Eriksson,N., Foroud,T. and Singleton,A.B.
  CONSRTM   International Parkinson's Disease Genomics Consortium (IPDGC);
            Parkinson's Study Group (PSG) Parkinson's Research: The Organized
            GENetics Initiative (PROGENI); 23andMe; GenePD; NeuroGenetics
            Research Consortium (NGRC); Hussman Institute of Human Genomics
            (HIHG); Ashkenazi Jewish Dataset Investigator; Cohorts for Health
            and Aging Research in Genetic Epidemiology (CHARGE); North American
            Brain Expression Consortium (NABEC); United Kingdom Brain
            Expression Consortium (UKBEC); Greek Parkinson's Disease
            Consortium; Alzheimer Genetic Analysis Group
  TITLE     Large-scale meta-analysis of genome-wide association data
            identifies six new risk loci for Parkinson's disease
  JOURNAL   Nat Genet 46 (9), 989-993 (2014)
   PUBMED   25064009
REFERENCE   5  (bases 1 to 1533)
  AUTHORS   Do,C.B., Tung,J.Y., Dorfman,E., Kiefer,A.K., Drabant,E.M.,
            Francke,U., Mountain,J.L., Goldman,S.M., Tanner,C.M.,
            Langston,J.W., Wojcicki,A. and Eriksson,N.
  TITLE     Web-based genome-wide association study identifies two novel loci
            and a substantial genetic component for Parkinson's disease
  JOURNAL   PLoS Genet 7 (6), e1002141 (2011)
   PUBMED   21738487
REFERENCE   6  (bases 1 to 1533)
  AUTHORS   Simon-Sanchez,J., Schulte,C., Bras,J.M., Sharma,M., Gibbs,J.R.,
            Berg,D., Paisan-Ruiz,C., Lichtner,P., Scholz,S.W., Hernandez,D.G.,
            Kruger,R., Federoff,M., Klein,C., Goate,A., Perlmutter,J.,
            Bonin,M., Nalls,M.A., Illig,T., Gieger,C., Houlden,H., Steffens,M.,
            Okun,M.S., Racette,B.A., Cookson,M.R., Foote,K.D., Fernandez,H.H.,
            Traynor,B.J., Schreiber,S., Arepalli,S., Zonozi,R., Gwinn,K., van
            der Brug,M., Lopez,G., Chanock,S.J., Schatzkin,A., Park,Y.,
            Hollenbeck,A., Gao,J., Huang,X., Wood,N.W., Lorenz,D., Deuschl,G.,
            Chen,H., Riess,O., Hardy,J.A., Singleton,A.B. and Gasser,T.
  TITLE     Genome-wide association study reveals genetic risk underlying
            Parkinson's disease
  JOURNAL   Nat Genet 41 (12), 1308-1312 (2009)
   PUBMED   19915575
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            DB081518.1, AC034139.7 and N55430.1.
            
            On Nov 22, 2018 this sequence version replaced NM_001136570.2.
            
            Transcript Variant: This variant (1) encodes the longer isoform
            (a).
            
            ##Evidence-Data-START##
            RNAseq introns :: single sample supports all introns SAMEA1968540,
                              SAMEA1968968 [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000424749.7/ ENSP00000409423.2
            RefSeq Select criteria :: based on conservation, longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-20                DB081518.1         22-41
            21-100              AC034139.7         38921-39000
            101-446             AC034139.7         43358-43703
            447-586             AC034139.7         50884-51023
            587-695             AC034139.7         55840-55948
            696-896             AC034139.7         58748-58948
            897-1052            AC034139.7         65249-65404
            1053-1130           AC034139.7         67444-67521
            1131-1504           AC034139.7         70561-70934
            1505-1533           N55430.1           3-31                c
FEATURES             Location/Qualifiers
     source          1..1533
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="4"
                     /map="4q21.1"
     gene            1..1533
                     /gene="FAM47E"
                     /note="family with sequence similarity 47 member E"
                     /db_xref="GeneID:100129583"
                     /db_xref="HGNC:HGNC:34343"
     exon            1..100
                     /gene="FAM47E"
                     /inference="alignment:Splign:2.1.0"
     CDS             27..1208
                     /gene="FAM47E"
                     /note="isoform a is encoded by transcript variant 1;
                     protein FAM47E"
                     /codon_start=1
                     /product="protein FAM47E isoform a"
                     /protein_id="NP_001130042.1"
                     /db_xref="CCDS:CCDS47081.1"
                     /db_xref="GeneID:100129583"
                     /db_xref="HGNC:HGNC:34343"
                     /translation="MADRRRRLRPGTLAPVREGVNCRSRCFTKHKNGLKFPTSLHSRQ
                     LVFPRKGLDDFRKGCPPCTGLVTQVPVEGFLPQIYHRAPQLAPKKRQIKLLKEADVLS
                     KLSPAQQARKAFLEDVEAHLTPHPLALYLNLEEAMPIELLSKVLEVLDPDRKLEDTWA
                     YCQDTRKGMKEPTKLLKKHSTQVYLGPSKKTSVSNAGQWLYEEKPHKMDLLHENGPRP
                     GLHENGISDIDEEFILKQFDIDYETKPSHDALHTMKLNQVPLELKRSVGLSKLQETEF
                     FQKLGYERKLQKPQNPYKPKWVKMRYGAWYLNPKLWKKQRVDEPLVDPEVSHKAQEEN
                     FKKELQEQEELLADLHGTVAFKDFILSRGYRTPRFLENMYIGKECKRACNKTPIKRTQ
                     A"
     exon            101..446
                     /gene="FAM47E"
                     /inference="alignment:Splign:2.1.0"
     exon            447..586
                     /gene="FAM47E"
                     /inference="alignment:Splign:2.1.0"
     exon            587..695
                     /gene="FAM47E"
                     /inference="alignment:Splign:2.1.0"
     exon            696..896
                     /gene="FAM47E"
                     /inference="alignment:Splign:2.1.0"
     exon            897..1052
                     /gene="FAM47E"
                     /inference="alignment:Splign:2.1.0"
     exon            1053..1130
                     /gene="FAM47E"
                     /inference="alignment:Splign:2.1.0"
     exon            1131..1533
                     /gene="FAM47E"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1510..1515
                     /regulatory_class="polyA_signal_sequence"
                     /gene="FAM47E"
                     /note="hexamer: AATAAA"
     polyA_site      1533
                     /gene="FAM47E"
                     /note="major polyA site"
ORIGIN      
        1 acggtggccg cgaagctagg gccaccatgg cggaccgcag gcggcggctc cggccgggga
       61 cgttggcccc ggtgcgcgag ggcgtgaact gcaggtccag atgtttcaca aagcacaaga
      121 acgggctgaa gttccccacc tctctgcaca gccggcagtt ggtatttcca agaaaggggc
      181 tggacgactt caggaagggc tgcccgcctt gcactggtct ggtgactcag gtccctgtgg
      241 agggctttct gccccagatt tatcacagag ctccccaact ggccccaaag aagaggcaga
      301 tcaagctgct caaggaagca gacgtgcttt ccaagctctc gccagcccag caggctcgga
      361 aggcattcct ggaggacgtg gaggcccacc tgaccccaca tcccttagcg ctctacctga
      421 atctggaaga agctatgccc atagagctct tatcaaaggt gctggaagtg cttgatcctg
      481 accggaagct ggaggacaca tgggcttatt gtcaggacac caggaaagga atgaaggaac
      541 ccacgaagct tttaaaaaaa cattctaccc aagtctacct gggaccttcc aagaagacgt
      601 ctgtgtcaaa cgcaggccaa tggctttatg aagaaaagcc acataaaatg gatttgctcc
      661 atgaaaatgg tcctcgtcct ggtcttcatg aaaatggaat ttcggacatc gatgaagagt
      721 tcatcttgaa acagtttgac attgactatg agaccaaacc aagccatgat gcgctccaca
      781 cgatgaagct aaatcaggtt cctctggagc taaagcgtag tgtggggctc agtaaactgc
      841 aggagacaga gttcttccag aaactaggct atgagaggaa actccagaaa ccacagaatc
      901 cttataagcc aaagtgggtg aagatgaggt atggagcatg gtatttgaac cccaagttgt
      961 ggaaaaagca aagagtagac gagcctctgg ttgaccctga ggtctcacat aaggctcaag
     1021 aggagaattt taaaaaggag ctgcaggaac aggaggagtt acttgcagac cttcacggaa
     1081 cagttgcctt taaggatttc attctaagca ggggctacag gacgccacgt ttccttgaga
     1141 atatgtatat cgggaaggaa tgtaaacgtg catgtaataa gactcctata aaacgaactc
     1201 aagcatagaa gaatcgtagg agaatgatta ggcagatttt attactacgt acttggctat
     1261 ttctctgtct ccttttaaag attaaacaga gtttatgatg agtgtcccac tgtggatgtt
     1321 caactttgac ttggcaacat ctgtaaatgt aatacctgat ggttataagc atttctcaat
     1381 ggatttctgc ttcagttaat caacattttg tatactttat cacccatgag atcaatattc
     1441 acatgtaatc ttctcatatt tttgtggcac gtgaatatta tataggtata tcaactattg
     1501 gtaaaaataa ataaaggcat aaataaaaac aga
//
