LOCUS       NM_001242936            1627 bp    mRNA    linear   PRI 02-APR-2024
DEFINITION  Homo sapiens family with sequence similarity 47 member E (FAM47E),
            transcript variant 2, mRNA.
ACCESSION   NM_001242936
VERSION     NM_001242936.1
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 1627)
  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 1627)
  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 1627)
  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 1627)
  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 1627)
  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 1627)
  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
            AK124936.1, BM713546.1 and N55430.1.
            
            Transcript Variant: This variant (2) differs in the 5' UTR and 5'
            coding region, and uses an alternate in-frame splice site in the
            central coding region, compared to variant 1. The encoded isoform
            (b) has a distinct N-terminus and is shorter than isoform a.
            
            ##Evidence-Data-START##
            Transcript exon combination :: AK124936.1, SRR1803613.124968.1
                                           [ECO:0000332]
            RNAseq introns              :: partial sample support SAMEA1966682,
                                           SAMEA1968189 [ECO:0000350]
            ##Evidence-Data-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-936               AK124936.1         1-936
            937-1501            BM713546.1         109-673
            1502-1627           N55430.1           3-128               c
FEATURES             Location/Qualifiers
     source          1..1627
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="4"
                     /map="4q21.1"
     gene            1..1627
                     /gene="FAM47E"
                     /note="family with sequence similarity 47 member E"
                     /db_xref="GeneID:100129583"
                     /db_xref="HGNC:HGNC:34343"
     exon            1..385
                     /gene="FAM47E"
                     /inference="alignment:Splign:2.1.0"
     exon            386..495
                     /gene="FAM47E"
                     /inference="alignment:Splign:2.1.0"
     CDS             415..1302
                     /gene="FAM47E"
                     /note="isoform b is encoded by transcript variant 2;
                     protein FAM47E"
                     /codon_start=1
                     /product="protein FAM47E isoform b"
                     /protein_id="NP_001229865.1"
                     /db_xref="CCDS:CCDS58907.1"
                     /db_xref="GeneID:100129583"
                     /db_xref="HGNC:HGNC:34343"
                     /translation="MQMSVPCVLSSLQNHEPNKPLFTTQSQLLSKVLEVLDPDRKLED
                     TWAYCQDTRKGMKEPTKLLKKHSTQVYLGPSKKTSVSNAGQWLYEEKPHKMDLLHENG
                     PRPGLHENVCKAVSDFCKWVTTFGISDIDEEFILKQFDIDYETKPSHDALHTMKLNQV
                     PLELKRSVGLSKLQETEFFQKLGYERKLQKPQNPYKPKWVKMRYGAWYLNPKLWKKQR
                     VDEPLVDPEVSHKAQEENFKKELQEQEELLADLHGTVAFKDFILSRGYRTPRFLENMY
                     IGKECKRACNKTPIKRTQA"
     exon            496..635
                     /gene="FAM47E"
                     /inference="alignment:Splign:2.1.0"
     exon            636..789
                     /gene="FAM47E"
                     /inference="alignment:Splign:2.1.0"
     exon            790..990
                     /gene="FAM47E"
                     /inference="alignment:Splign:2.1.0"
     exon            991..1146
                     /gene="FAM47E"
                     /inference="alignment:Splign:2.1.0"
     exon            1147..1224
                     /gene="FAM47E"
                     /inference="alignment:Splign:2.1.0"
     exon            1225..1627
                     /gene="FAM47E"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1604..1609
                     /regulatory_class="polyA_signal_sequence"
                     /gene="FAM47E"
                     /note="hexamer: AATAAA"
     polyA_site      1627
                     /gene="FAM47E"
                     /note="major polyA site"
ORIGIN      
        1 agcgccctgc accgcaggcc cagcgctcgc cccaccgaaa ttgccgaacc tggttcacac
       61 actcatttac tcattccgca gataggtctg agggcctccc atgggccacg cgctggggat
      121 tcaaggtggc tgggacattc ccctgctcta gaggcgctcg caagttagcg gggacaccgt
      181 taccgcaatt acaacacaat gtagcaagtg cttctaccag gtgcctgctg agatcatgcc
      241 agcaagcatg ttctgcctgg atgacctagg gccccacatt gaactggggc ctgggggatg
      301 cataagtttg tcacgtaagg ggcatgtgca agaatggaag atgtgcaaaa aagggaggag
      361 gaggcatttc acggagaagg aaacggagtg gaagcagcct gaggccctca tccaatgcag
      421 atgtctgtgc cgtgcgtctt gtccagcctg cagaaccatg agccaaataa acctcttttc
      481 actacccaat ctcagctctt atcaaaggtg ctggaagtgc ttgatcctga ccggaagctg
      541 gaggacacat gggcttattg tcaggacacc aggaaaggaa tgaaggaacc cacgaagctt
      601 ttaaaaaaac attctaccca agtctacctg ggaccttcca agaagacgtc tgtgtcaaac
      661 gcaggccaat ggctttatga agaaaagcca cataaaatgg atttgctcca tgaaaatggt
      721 cctcgtcctg gtcttcatga aaatgtatgc aaagcagtta gtgacttctg caagtgggtt
      781 actacttttg gaatttcgga catcgatgaa gagttcatct tgaaacagtt tgacattgac
      841 tatgagacca aaccaagcca tgatgcgctc cacacgatga agctaaatca ggttcctctg
      901 gagctaaagc gtagtgtggg gctcagtaaa ctgcaggaga cagagttctt ccagaaacta
      961 ggctatgaga ggaaactcca gaaaccacag aatccttata agccaaagtg ggtgaagatg
     1021 aggtatggag catggtattt gaaccccaag ttgtggaaaa agcaaagagt agacgagcct
     1081 ctggttgacc ctgaggtctc acataaggct caagaggaga attttaaaaa ggagctgcag
     1141 gaacaggagg agttacttgc agaccttcac ggaacagttg cctttaagga tttcattcta
     1201 agcaggggct acaggacgcc acgtttcctt gagaatatgt atatcgggaa ggaatgtaaa
     1261 cgtgcatgta ataagactcc tataaaacga actcaagcat agaagaatcg taggagaatg
     1321 attaggcaga ttttattact acgtacttgg ctatttctct gtctcctttt aaagattaaa
     1381 cagagtttat gatgagtgtc ccactgtgga tgttcaactt tgacttggca acatctgtaa
     1441 atgtaatacc tgatggttat aagcatttct caatggattt ctgcttcagt taatcaacat
     1501 tttgtatact ttatcaccca tgagatcaat attcacatgt aatcttctca tatttttgtg
     1561 gcacgtgaat attatatagg tatatcaact attggtaaaa ataaataaag gcataaataa
     1621 aaacaga
//
