LOCUS       NM_001083536            3246 bp    mRNA    linear   PRI 06-JUN-2024
DEFINITION  Homo sapiens FYVE, RhoGEF and PH domain containing 3 (FGD3),
            transcript variant 1, mRNA.
ACCESSION   NM_001083536
VERSION     NM_001083536.2
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 3246)
  AUTHORS   Renda,I., Bianchi,S., Vezzosi,V., Nori,J., Vanzi,E., Tavella,K. and
            Susini,T.
  TITLE     Expression of FGD3 gene as prognostic factor in young breast cancer
            patients
  JOURNAL   Sci Rep 9 (1), 15204 (2019)
   PUBMED   31645624
  REMARK    GeneRIF: Expression of FGD3 gene as prognostic factor in young
            breast cancer patients.
            Publication Status: Online-Only
REFERENCE   2  (bases 1 to 3246)
  AUTHORS   Delague,V., Jacquier,A., Hamadouche,T., Poitelon,Y., Baudot,C.,
            Boccaccio,I., Chouery,E., Chaouch,M., Kassouri,N., Jabbour,R.,
            Grid,D., Megarbane,A., Haase,G. and Levy,N.
  TITLE     Mutations in FGD4 encoding the Rho GDP/GTP exchange factor FRABIN
            cause autosomal recessive Charcot-Marie-Tooth type 4H
  JOURNAL   Am J Hum Genet 81 (1), 1-16 (2007)
   PUBMED   17564959
REFERENCE   3  (bases 1 to 3246)
  AUTHORS   Rabizadeh,S. and Bredesen,D.E.
  TITLE     Ten years on: mediation of cell death by the common neurotrophin
            receptor p75(NTR)
  JOURNAL   Cytokine Growth Factor Rev 14 (3-4), 225-239 (2003)
   PUBMED   12787561
  REMARK    Review article
REFERENCE   4  (bases 1 to 3246)
  AUTHORS   Salehi,A.H., Xanthoudakis,S. and Barker,P.A.
  TITLE     NRAGE, a p75 neurotrophin receptor-interacting protein, induces
            caspase activation and cell death through a JNK-dependent
            mitochondrial pathway
  JOURNAL   J Biol Chem 277 (50), 48043-48050 (2002)
   PUBMED   12376548
REFERENCE   5  (bases 1 to 3246)
  AUTHORS   Harrington,A.W., Kim,J.Y. and Yoon,S.O.
  TITLE     Activation of Rac GTPase by p75 is necessary for c-jun N-terminal
            kinase-mediated apoptosis
  JOURNAL   J Neurosci 22 (1), 156-166 (2002)
   PUBMED   11756498
REFERENCE   6  (bases 1 to 3246)
  AUTHORS   Hattori,A., Okumura,K., Nagase,T., Kikuno,R., Hirosawa,M. and
            Ohara,O.
  TITLE     Characterization of long cDNA clones from human adult spleen
  JOURNAL   DNA Res 7 (6), 357-366 (2000)
   PUBMED   11214971
REFERENCE   7  (bases 1 to 3246)
  AUTHORS   Pasteris,N.G., Nagata,K., Hall,A. and Gorski,J.L.
  TITLE     Isolation, characterization, and mapping of the mouse Fgd3 gene, a
            new Faciogenital Dysplasia (FGD1; Aarskog Syndrome) gene homologue
  JOURNAL   Gene 242 (1-2), 237-247 (2000)
   PUBMED   10721717
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            DA493667.1, BC032429.1, AL451065.13 and BF509875.1.
            
            On Nov 22, 2018 this sequence version replaced NM_001083536.1.
            
            Transcript Variant: This variant (1) encodes the longest isoform
            (a). Variants 1, 2, and 4 all encode the same isoform (a).
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR1803612.231818.1, BC032429.1
                                           [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1966682, SAMEA1968832
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000375482.8/ ENSP00000364631.3
            RefSeq Select criteria :: based on conservation, longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-77                DA493667.1         205-281
            78-1246             BC032429.1         1-1169
            1247-1247           AL451065.13        25122-25122
            1248-1746           BC032429.1         1171-1669
            1747-1747           AL451065.13        37139-37139
            1748-3243           BC032429.1         1671-3166
            3244-3246           BF509875.1         21-23               c
FEATURES             Location/Qualifiers
     source          1..3246
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="9"
                     /map="9q22.31"
     gene            1..3246
                     /gene="FGD3"
                     /gene_synonym="ZFYVE5"
                     /note="FYVE, RhoGEF and PH domain containing 3"
                     /db_xref="GeneID:89846"
                     /db_xref="HGNC:HGNC:16027"
                     /db_xref="MIM:617554"
     exon            1..207
                     /gene="FGD3"
                     /gene_synonym="ZFYVE5"
                     /inference="alignment:Splign:2.1.0"
     exon            208..375
                     /gene="FGD3"
                     /gene_synonym="ZFYVE5"
                     /inference="alignment:Splign:2.1.0"
     exon            376..877
                     /gene="FGD3"
                     /gene_synonym="ZFYVE5"
                     /inference="alignment:Splign:2.1.0"
     CDS             425..2602
                     /gene="FGD3"
                     /gene_synonym="ZFYVE5"
                     /note="isoform a is encoded by transcript variant 1; FGD1
                     family, member 3; FYVE, RhoGEF and PH domain-containing
                     protein 3; faciogenital dysplasia 3; zinc finger FYVE
                     domain-containing protein 5"
                     /codon_start=1
                     /product="FYVE, RhoGEF and PH domain-containing protein 3
                     isoform a"
                     /protein_id="NP_001077005.1"
                     /db_xref="CCDS:CCDS43849.1"
                     /db_xref="GeneID:89846"
                     /db_xref="HGNC:HGNC:16027"
                     /db_xref="MIM:617554"
                     /translation="MESGRGSSTPPGPIAALGMPDTGPGSSSLGKLQALPVGPRAHCG
                     DPVSLAAAGDGSPDIGPTGELSGSLKIPNRDSGIDSPSSSVAGENFPCEEGLEAGPSP
                     TVLGAHAEMALDSQVPKVTPQEEADSDVGEEPDSENTPQKADKDAGLAQHSGPQKLLH
                     IAQELLHTEETYVKRLHLLDQVFCTRLTDAGIPPEVIMGIFSNISSIHRFHGQFLLPE
                     LKTRITEEWDTNPRLGDILQKLAPFLKMYGEYVKNFDRAVGLVSTWTQRSPLFKDVVH
                     SIQKQEVCGNLTLQHHMLEPVQRVPRYELLLKDYLKRLPQDAPDRKDAERSLELISTA
                     ANHSNAAIRKVEKMHKLLEVYEQLGGEEDIVNPANELIKEGQIQKLSAKNGTPQDRHL
                     FLFNSMILYCVPKLRLMGQKFSVREKMDISGLQVQDIVKPNTAHTFIITGRKRSLELQ
                     TRTEEEKKEWIQIIQATIEKHKQNSETFKAFGGAFSQDEDPSLSPDMPITSTSPVEPV
                     VTTEGSSGAAGLEPRKLSSKTRRDKEKQSCKSCGETFNSITKRRHHCKLCGAVICGKC
                     SEFKAENSRQSRVCRDCFLTQPVAPESTEKTPTADPQPSLLCGPLRLSESGETWSEVW
                     AAIPMSDPQVLHLQGGSQDGRLPRTIPLPSCKLSVPDPEERLDSGHVWKLQWAKQSWY
                     LSASSAELQQQWLETLSTAAHGDTAQDSPGALQLQVPMGAAAP"
     exon            878..967
                     /gene="FGD3"
                     /gene_synonym="ZFYVE5"
                     /inference="alignment:Splign:2.1.0"
     exon            968..1104
                     /gene="FGD3"
                     /gene_synonym="ZFYVE5"
                     /inference="alignment:Splign:2.1.0"
     exon            1105..1261
                     /gene="FGD3"
                     /gene_synonym="ZFYVE5"
                     /inference="alignment:Splign:2.1.0"
     exon            1262..1400
                     /gene="FGD3"
                     /gene_synonym="ZFYVE5"
                     /inference="alignment:Splign:2.1.0"
     exon            1401..1459
                     /gene="FGD3"
                     /gene_synonym="ZFYVE5"
                     /inference="alignment:Splign:2.1.0"
     exon            1460..1606
                     /gene="FGD3"
                     /gene_synonym="ZFYVE5"
                     /inference="alignment:Splign:2.1.0"
     exon            1607..1699
                     /gene="FGD3"
                     /gene_synonym="ZFYVE5"
                     /inference="alignment:Splign:2.1.0"
     exon            1700..1779
                     /gene="FGD3"
                     /gene_synonym="ZFYVE5"
                     /inference="alignment:Splign:2.1.0"
     exon            1780..1810
                     /gene="FGD3"
                     /gene_synonym="ZFYVE5"
                     /inference="alignment:Splign:2.1.0"
     exon            1811..1918
                     /gene="FGD3"
                     /gene_synonym="ZFYVE5"
                     /inference="alignment:Splign:2.1.0"
     exon            1919..1981
                     /gene="FGD3"
                     /gene_synonym="ZFYVE5"
                     /inference="alignment:Splign:2.1.0"
     exon            1982..2104
                     /gene="FGD3"
                     /gene_synonym="ZFYVE5"
                     /inference="alignment:Splign:2.1.0"
     exon            2105..2209
                     /gene="FGD3"
                     /gene_synonym="ZFYVE5"
                     /inference="alignment:Splign:2.1.0"
     exon            2210..2350
                     /gene="FGD3"
                     /gene_synonym="ZFYVE5"
                     /inference="alignment:Splign:2.1.0"
     exon            2351..3246
                     /gene="FGD3"
                     /gene_synonym="ZFYVE5"
                     /inference="alignment:Splign:2.1.0"
     regulatory      3226..3231
                     /regulatory_class="polyA_signal_sequence"
                     /gene="FGD3"
                     /gene_synonym="ZFYVE5"
                     /note="hexamer: AATAAA"
     polyA_site      3246
                     /gene="FGD3"
                     /gene_synonym="ZFYVE5"
                     /note="major polyA site"
ORIGIN      
        1 agtcctgggc tgattggcgc gggaagcaca gcccggccct ccaggtcccc aaggagaccc
       61 cagcctcctg ctgcccactg tgagcgacct ccccggggct cctctggaag cggctccggc
      121 aagtatcgag tttgcctgtg cggagctggg ggagcctccg gctttcctgt ttgctttgtt
      181 aattattttc gtccccagag gaaggcgtac ctcctaaatg gctctacttt gaacctgctg
      241 ggcaaggaag agattttcaa ggaaaccatc taccgtgtgc aagctcctgc cggccaaccc
      301 cagaccccag cacggagcca ggcgcctgtg cccgccgacc ctcagcatcc tcctcagaaa
      361 ggctggtggc atcaggaagc ccctggccag cctccacctg agcccagtga gctcagcttt
      421 aaggatggag tcaggcaggg ggtcctcaac ccctccagga cccattgctg ccctagggat
      481 gccagacact gggcctggca gttcctccct agggaagctt caggcgctcc ctgttgggcc
      541 cagagcccac tgtggggacc ctgtcagcct ggctgcagca ggggacggct ctccagacat
      601 aggccccacg ggagagctga gtggtagctt aaagatcccc aaccgggaca gcgggatcga
      661 cagtccctcc tccagtgtgg ctggagagaa ctttccctgc gaggagggct tggaggctgg
      721 cccaagcccc actgtactgg gggcgcacgc agagatggcc ctggacagcc aggtcccgaa
      781 ggtcaccccc caggaggagg cggacagcga cgtgggtgag gaacctgact ctgagaacac
      841 cccccagaag gctgacaagg atgccggcct ggcccagcac tctggccccc agaagcttct
      901 ccacattgcc caggagctcc tgcacaccga ggagacctat gtgaagcggc tgcacctgct
      961 ggaccaggtt ttctgcacca ggctgacgga tgcggggatc cctccagaag tcatcatggg
     1021 catattctct aacatctcct ccatccaccg cttccacggg cagttcctgc tgccggagct
     1081 gaagacgcgg atcacggagg agtgggacac aaacccacgg ctcggggaca tcctgcagaa
     1141 gctggcccca ttcctgaaga tgtacggcga gtatgtcaag aactttgacc gagccgtagg
     1201 gctggtgagc acgtggaccc agcgctcccc actgtttaaa gacgtcgtcc acagcatcca
     1261 gaagcaggag gtatgcggga acctgacgct gcagcaccac atgctggagc ccgtgcagag
     1321 ggtcccccgg tacgagctgc tgctcaagga ctatctgaag aggctcccgc aggacgcccc
     1381 agaccggaag gatgcggaga ggtccttgga gctcatctcc acagccgcca accactccaa
     1441 tgctgccatt cggaaagtgg agaaaatgca caagctcttg gaggtgtacg agcagctggg
     1501 tggggaagaa gacattgtca acccggccaa tgaactgatc aaggagggcc aaatccagaa
     1561 actgtcagcc aagaacggca ccccccagga ccgccacctc ttcctgttca acagcatgat
     1621 cctttactgt gtgcccaagc tgcggctcat gggccagaag ttcagcgtcc gggagaagat
     1681 ggacatctca ggcctccagg tgcaggatat cgtcaagcca aacacagcac atacattcat
     1741 cataacagga agaaaaaggt ccctggagct gcagacgcgg acagaggaag agaagaaaga
     1801 atggattcag atcatccagg ccaccatcga gaagcacaaa cagaacagcg aaaccttcaa
     1861 ggcttttggt ggcgccttca gccaggatga ggaccccagc ctctctccag acatgcctat
     1921 cacgagcacc agccctgtgg agcctgtggt gaccaccgaa ggcagttcgg gtgcagcagg
     1981 gctcgagccc agaaaactat cctctaagac cagacgtgac aaggagaagc agagctgtaa
     2041 gagctgtggt gagaccttca actccatcac caagaggagg catcactgca agctgtgtgg
     2101 ggcggtcatc tgtgggaagt gctccgagtt caaggccgag aacagccggc agagccgtgt
     2161 ctgcagagat tgtttcctga cacagccagt ggcccctgag agcacagaga agacacccac
     2221 tgcagacccc cagcccagcc tgctctgcgg ccccctgcgg ctgtcagaga gcggtgagac
     2281 ctggagcgag gtgtgggccg ccatccccat gtcagatccc caggtgctgc acctgcaggg
     2341 aggcagccag gacggccggc tgccccgcac catccctctc cccagctgca aactgagtgt
     2401 gccggaccct gaggagaggc tggactcggg gcatgtgtgg aagctgcagt gggccaagca
     2461 gtcctggtac ctgagcgcct cctccgcaga gctgcagcag cagtggctgg aaaccctaag
     2521 cactgctgcc catggggaca cggcccagga cagcccgggg gccctgcagc ttcaggtccc
     2581 tatgggcgca gctgctccgt gagctgagtc tcccactgcc ctgcacacca ccacattgga
     2641 cctgtgctgt cctgggaggt ggtgttggag gccccatgaa gagcgccctg gactgctgag
     2701 ggtgggccaa cagcccagag ctcaggacac ttggctttgg ggggaaggaa actgaggccc
     2761 agagaggggc aaccactggc caagggtcac ccagcaagtt ttggctaaga gcctggcctc
     2821 cagccccagc agtgtggccc agagcagggg ccgactgcca aagtaaccat catccatatg
     2881 ggccgtgtgg tgatgctggc ccggaaggca gaaagaggca gcatgggcac tgccagggac
     2941 agccacatcc tgctggtctg cagcgtggtc caccccgcct ctgcccagcc tgtctacacc
     3001 gtgtgagctg aatcgtgact tgcttcccac ctcctttctc tgtcctctcc tgaggttctg
     3061 cctgcagccc ccaggaggtg ggcctgcccc atcctagctg gactcatggt tcctaaataa
     3121 ccacgctcag aagctctgct aggacttacc ccagccactg agtggcaggc gcatgagatt
     3181 tgtggctgtt cctgatgcta gtggcacaca gtgcttatct gcataaataa acactggcca
     3241 ccagca
//
