LOCUS       NM_004463               4343 bp    mRNA    linear   PRI 08-JUN-2024
DEFINITION  Homo sapiens FYVE, RhoGEF and PH domain containing 1 (FGD1), mRNA.
ACCESSION   NM_004463
VERSION     NM_004463.3
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 4343)
  AUTHORS   Bayat,A., Krett,B., Duno,M., Torring,P.M. and Vissing,J.
  TITLE     Novel truncating variants in FGD1 detected in two Danish families
            with Aarskog-Scott syndrome and myopathic features
  JOURNAL   Am J Med Genet A 188 (7), 2251-2257 (2022)
   PUBMED   35388608
  REMARK    GeneRIF: Novel truncating variants in FGD1 detected in two Danish
            families with Aarskog-Scott syndrome and myopathic features.
REFERENCE   2  (bases 1 to 4343)
  AUTHORS   Niu,Z., Li,Y., Xu,Y., Jiang,W., Tao,R., Chen,Y. and Han,Y.
  TITLE     Silencing FYVE, RhoGEF, and PH domain containing 1 (FGD1)
            suppresses melanoma progression by inhibiting PI3K/AKT signaling
            pathway
  JOURNAL   Bioengineered 12 (2), 12193-12205 (2021)
   PUBMED   34783295
  REMARK    GeneRIF: Silencing FYVE, RhoGEF, and PH domain containing 1 (FGD1)
            suppresses melanoma progression by inhibiting PI3K/AKT signaling
            pathway.
REFERENCE   3  (bases 1 to 4343)
  AUTHORS   Kessel,I., German,A., Peleg,A., Gonzaga-Jauregui,C., Paperna,T.,
            Ekhilevitch,N., Kurolap,A., Baris Feldman,H. and Sagi-Dain,L.
  CONSRTM   Regeneron Genetics Center
  TITLE     A novel truncating variant in the FGD1 gene associated with
            Aarskog-Scott syndrome in a family previously diagnosed with Tel
            Hashomer camptodactyly
  JOURNAL   Am J Med Genet A 185 (10), 3161-3166 (2021)
   PUBMED   34145742
  REMARK    GeneRIF: A novel truncating variant in the FGD1 gene associated
            with Aarskog-Scott syndrome in a family previously diagnosed with
            Tel Hashomer camptodactyly.
REFERENCE   4  (bases 1 to 4343)
  AUTHORS   Zagryazhskaya-Masson,A., Monteiro,P., Mace,A.S., Castagnino,A.,
            Ferrari,R., Infante,E., Duperray-Susini,A., Dingli,F., Lanyi,A.,
            Loew,D., Genot,E. and Chavrier,P.
  TITLE     Intersection of TKS5 and FGD1/CDC42 signaling cascades directs the
            formation of invadopodia
  JOURNAL   J Cell Biol 219 (9) (2020)
   PUBMED   32673397
  REMARK    GeneRIF: Intersection of TKS5 and FGD1/CDC42 signaling cascades
            directs the formation of invadopodia.
REFERENCE   5  (bases 1 to 4343)
  AUTHORS   Gorski,J.L., Estrada,L., Hu,C. and Liu,Z.
  TITLE     Skeletal-specific expression of Fgd1 during bone formation and
            skeletal defects in faciogenital dysplasia (FGDY; Aarskog syndrome)
  JOURNAL   Dev Dyn 218 (4), 573-586 (2000)
   PUBMED   10906777
REFERENCE   6  (bases 1 to 4343)
  AUTHORS   Pasteris,N.G., Buckler,J., Cadle,A.B. and Gorski,J.L.
  TITLE     Genomic organization of the faciogenital dysplasia (FGD1; Aarskog
            syndrome) gene
  JOURNAL   Genomics 43 (3), 390-394 (1997)
   PUBMED   9268645
REFERENCE   7  (bases 1 to 4343)
  AUTHORS   Zheng,Y., Fischer,D.J., Santos,M.F., Tigyi,G., Pasteris,N.G.,
            Gorski,J.L. and Xu,Y.
  TITLE     The faciogenital dysplasia gene product FGD1 functions as a
            Cdc42Hs-specific guanine-nucleotide exchange factor
  JOURNAL   J Biol Chem 271 (52), 33169-33172 (1996)
   PUBMED   8969170
REFERENCE   8  (bases 1 to 4343)
  AUTHORS   Olson,M.F., Pasteris,N.G., Gorski,J.L. and Hall,A.
  TITLE     Faciogenital dysplasia protein (FGD1) and Vav, two related proteins
            required for normal embryonic development, are upstream regulators
            of Rho GTPases
  JOURNAL   Curr Biol 6 (12), 1628-1633 (1996)
   PUBMED   8994827
REFERENCE   9  (bases 1 to 4343)
  AUTHORS   Pasteris,N.G., Cadle,A., Logie,L.J., Porteous,M.E., Schwartz,C.E.,
            Stevenson,R.E., Glover,T.W., Wilroy,R.S. and Gorski,J.L.
  TITLE     Isolation and characterization of the faciogenital dysplasia
            (Aarskog-Scott syndrome) gene: a putative Rho/Rac guanine
            nucleotide exchange factor
  JOURNAL   Cell 79 (4), 669-678 (1994)
   PUBMED   7954831
REFERENCE   10 (bases 1 to 4343)
  AUTHORS   Glover,T.W., Verga,V., Rafael,J., Barcroft,C., Gorski,J.L.,
            Bawle,E.V. and Higgins,J.V.
  TITLE     Translocation breakpoint in Aarskog syndrome maps to Xp11.21
            between ALAS2 and DXS323
  JOURNAL   Hum Mol Genet 2 (10), 1717-1718 (1993)
   PUBMED   8268928
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from Z85987.13.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Nov 26, 2018 this sequence version replaced NM_004463.2.
            
            Summary: This gene encodes a protein that contains Dbl (DH) and
            pleckstrin (PH) homology domains and is similar to the Rho family
            of small GTP-binding proteins. The encoded protein specifically
            binds to the Rho family GTPase Cdc42Hs and can stimulate the
            GDP-GTP exchange of the isoprenylated form of Cdc42Hs. It also
            stimulates the mitogen activated protein kinase cascade leading to
            c-Jun kinase SAPK/JNK1 activation. Defects in this gene are the
            cause of the faciogenital dysplasia in Aarskog-Scott syndrome and a
            syndromatic form of X-linked cognitive disability. [provided by
            RefSeq, Jul 2017].
            
            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 :: KX085484.1, U11690.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000375135.4/ ENSP00000364277.3
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-1109              Z85987.13          11302-12410
            1110-1283           Z85987.13          36049-36222
            1284-1461           Z85987.13          36776-36953
            1462-1903           Z85987.13          37079-37520
            1904-1993           Z85987.13          38660-38749
            1994-2142           Z85987.13          39604-39752
            2143-2299           Z85987.13          41684-41840
            2300-2438           Z85987.13          41947-42085
            2439-2497           Z85987.13          50969-51027
            2498-2644           Z85987.13          51170-51316
            2645-2737           Z85987.13          51752-51844
            2738-2817           Z85987.13          52009-52088
            2818-2848           Z85987.13          57235-57265
            2849-2950           Z85987.13          57776-57877
            2951-3076           Z85987.13          58268-58393
            3077-3238           Z85987.13          58569-58730
            3239-3382           Z85987.13          60082-60225
            3383-4343           Z85987.13          61122-62082
FEATURES             Location/Qualifiers
     source          1..4343
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="X"
                     /map="Xp11.22"
     gene            1..4343
                     /gene="FGD1"
                     /gene_synonym="AAS; FGDY; MRXS16; ZFYVE3"
                     /note="FYVE, RhoGEF and PH domain containing 1"
                     /db_xref="GeneID:2245"
                     /db_xref="HGNC:HGNC:3663"
                     /db_xref="MIM:300546"
     exon            1..1109
                     /gene="FGD1"
                     /gene_synonym="AAS; FGDY; MRXS16; ZFYVE3"
                     /inference="alignment:Splign:2.1.0"
     CDS             803..3688
                     /gene="FGD1"
                     /gene_synonym="AAS; FGDY; MRXS16; ZFYVE3"
                     /note="rho/Rac GEF; faciogenital dysplasia 1 protein; zinc
                     finger FYVE domain-containing protein 3; rho/Rac guanine
                     nucleotide exchange factor FGD1"
                     /codon_start=1
                     /product="FYVE, RhoGEF and PH domain-containing protein 1"
                     /protein_id="NP_004454.2"
                     /db_xref="CCDS:CCDS14359.1"
                     /db_xref="GeneID:2245"
                     /db_xref="HGNC:HGNC:3663"
                     /db_xref="MIM:300546"
                     /translation="MHGHRAPGGAGPSEPEHPATNPPGAAPPACADSDPGASEPGLLA
                     RRGSGSALGGPLDPQFVGPSDTSLGAAPGHRVLPCGPSPQHHRALRFSYHLEGSQPRP
                     GLHQGNRILVKSLSLDPGQSLEPHPEGPQRLRSDPGPPTETPSQRPSPLKRAPGPKPQ
                     VPPKPSYLQMPRMPPPLEPIPPPPSRPLPADPRVAKGLAPRAEASPSSAAVSSLIEKF
                     EREPVIVASDRPVPGPSPGPPEPVMLPQPTSQPPVPQLPEGEASRCLFLLAPGPRDGE
                     KVPNRDSGIDSISSPSNSEETCFVSDDGPPSHSLCPGPPALASVPVALADPHRPGSQE
                     VDSDLEEEDDEEEEEEKDREIPVPLMERQESVELTVQQKVFHIANELLQTEKAYVSRL
                     HLLDQVFCARLLEEARNRSSFPADVVHGIFSNICSIYCFHQQFLLPELEKRMEEWDRY
                     PRIGDILQKLAPFLKMYGEYVKNFDRAVELVNTWTERSTQFKVIIHEVQKEEACGNLT
                     LQHHMLEPVQRIPRYELLLKDYLLKLPHGSPDSKDAQKSLELIATAAEHSNAAIRKME
                     RMHKLLKVYELLGGEEDIVSPTKELIKEGHILKLSAKNGTTQDRYLILFNDRLLYCVP
                     RLRLLGQKFSVRARIDVDGMELKESSNLNLPRTFLVSGKQRSLELQARTEEEKKDWVQ
                     AINSTLLKHEQTLETFKLLNSTNREDEDTPPNSPNVDLGKRAPTPIREKEVTMCMRCQ
                     EPFNSITKRRHHCKACGHVVCGKCSEFRARLVYDNNRSNRVCTDCYVALHGVPGSSPA
                     CSQHTPQRRRSILEKQASVAAENSVICSFLHYMEKGGKGWHKAWFVVPENEPLVLYIY
                     GAPQDVKAQRSLPLIGFEVGPPEAGERPDRRHVFKITQSHLSWYFSPETEELQRRWMA
                     VLGRAGRGDTFCPGPTLSEDREMEEAPVAALGATAEPPESPQTRDKT"
     exon            1110..1283
                     /gene="FGD1"
                     /gene_synonym="AAS; FGDY; MRXS16; ZFYVE3"
                     /inference="alignment:Splign:2.1.0"
     exon            1284..1461
                     /gene="FGD1"
                     /gene_synonym="AAS; FGDY; MRXS16; ZFYVE3"
                     /inference="alignment:Splign:2.1.0"
     exon            1462..1903
                     /gene="FGD1"
                     /gene_synonym="AAS; FGDY; MRXS16; ZFYVE3"
                     /inference="alignment:Splign:2.1.0"
     exon            1904..1993
                     /gene="FGD1"
                     /gene_synonym="AAS; FGDY; MRXS16; ZFYVE3"
                     /inference="alignment:Splign:2.1.0"
     exon            1994..2142
                     /gene="FGD1"
                     /gene_synonym="AAS; FGDY; MRXS16; ZFYVE3"
                     /inference="alignment:Splign:2.1.0"
     exon            2143..2299
                     /gene="FGD1"
                     /gene_synonym="AAS; FGDY; MRXS16; ZFYVE3"
                     /inference="alignment:Splign:2.1.0"
     exon            2300..2438
                     /gene="FGD1"
                     /gene_synonym="AAS; FGDY; MRXS16; ZFYVE3"
                     /inference="alignment:Splign:2.1.0"
     exon            2439..2497
                     /gene="FGD1"
                     /gene_synonym="AAS; FGDY; MRXS16; ZFYVE3"
                     /inference="alignment:Splign:2.1.0"
     exon            2498..2644
                     /gene="FGD1"
                     /gene_synonym="AAS; FGDY; MRXS16; ZFYVE3"
                     /inference="alignment:Splign:2.1.0"
     exon            2645..2737
                     /gene="FGD1"
                     /gene_synonym="AAS; FGDY; MRXS16; ZFYVE3"
                     /inference="alignment:Splign:2.1.0"
     exon            2738..2817
                     /gene="FGD1"
                     /gene_synonym="AAS; FGDY; MRXS16; ZFYVE3"
                     /inference="alignment:Splign:2.1.0"
     exon            2818..2848
                     /gene="FGD1"
                     /gene_synonym="AAS; FGDY; MRXS16; ZFYVE3"
                     /inference="alignment:Splign:2.1.0"
     exon            2849..2950
                     /gene="FGD1"
                     /gene_synonym="AAS; FGDY; MRXS16; ZFYVE3"
                     /inference="alignment:Splign:2.1.0"
     exon            2951..3076
                     /gene="FGD1"
                     /gene_synonym="AAS; FGDY; MRXS16; ZFYVE3"
                     /inference="alignment:Splign:2.1.0"
     exon            3077..3238
                     /gene="FGD1"
                     /gene_synonym="AAS; FGDY; MRXS16; ZFYVE3"
                     /inference="alignment:Splign:2.1.0"
     exon            3239..3382
                     /gene="FGD1"
                     /gene_synonym="AAS; FGDY; MRXS16; ZFYVE3"
                     /inference="alignment:Splign:2.1.0"
     exon            3383..4343
                     /gene="FGD1"
                     /gene_synonym="AAS; FGDY; MRXS16; ZFYVE3"
                     /inference="alignment:Splign:2.1.0"
     regulatory      4316..4321
                     /regulatory_class="polyA_signal_sequence"
                     /gene="FGD1"
                     /gene_synonym="AAS; FGDY; MRXS16; ZFYVE3"
                     /note="hexamer: AATACA"
     polyA_site      4343
                     /gene="FGD1"
                     /gene_synonym="AAS; FGDY; MRXS16; ZFYVE3"
                     /note="major polyA site"
ORIGIN      
        1 aactgggtcc cagtgccgct gtggctgcgg ctgcctctgc gaggctcccg cctccccacc
       61 ccccttccca gggctccttc ccgcccgccg ccgccgagac ccaggctgaa gctggggagg
      121 acggtggagc ccggcccagg ccgttctcct gcccccgcgg ctggagcatc gtctgggact
      181 actggctgaa ggcgagcccc gcagcccaag cgcagcgcac acgcgcgccc ccggccaccg
      241 ccgttctctc ttccctcccc tcctctcccc tcccctctcc tccgcccccg gcctcggctg
      301 cggcgggagg aagaacgctt cccaaccagc caggagagcc cagatctatt cccattcggg
      361 gagaaagaag agaccccgca cttggatccg accgacttct cgccccgggg ccacggaagt
      421 ggctcgccgt ccaccggaga gtccccgccg agcgtagccc tccaaccctc gcccaaccgc
      481 agccgcatag acagcgctcc ccagcgggcc cccggccccg ccgagcccac tccccgcgcg
      541 gggccggggc cggggccggc gatgcctggc acggcagcgg cggtggccgc ggctgctgct
      601 gctgctactg ccaccgctgc cacggctgct ggcccgggcc cgggctgggg gcttgagtct
      661 ctgcagtggg gctgagcccg cagtcccgcc ccccgatcct gaggccgctg ctccgccggg
      721 cgccgggcct cctccgcccg cgcctccgcc ccaggagctg gagccaagcg gggagctcgg
      781 gccccgcgcc caggcccgga ccatgcatgg ccaccgagcc ccggggggcg ccgggccttc
      841 ggagcccgaa cacccggcca cgaacccgcc gggcgccgct ccgccggcct gtgccgactc
      901 ggaccctgga gcctcggaac ccggactgct ggcgcgcagg ggctcaggtt cggctcttgg
      961 cggcccactg gatccccagt ttgtcggacc ctcggacacc agcctgggcg ctgctccagg
     1021 ccaccgggtc ttgccctgcg gtcccagtcc acagcaccac cgggccctgc gcttctctta
     1081 ccacctggag ggctcgcagc ctcggcctgg gctgcaccag ggaaaccgga tcctggttaa
     1141 aagtttgtcc cttgaccctg gccaaagcct agagcctcat ccagaaggtc cccagcggct
     1201 tcgctcagac ccaggtcccc cgactgaaac ccctagccag cgtccttcac cactgaagcg
     1261 ggcaccgggc ccgaagccac aggtgccccc aaagcccagc tacctgcaga tgccccggat
     1321 gcccccccca ctggagccca tcccccctcc accatcacgc ccactgcctg ccgacccccg
     1381 agtggccaag ggcctggctc ccagggcaga ggccagcccc agttctgcag cagtatcctc
     1441 actgattgag aagtttgaaa gagagcctgt gattgtcgcc tcggatagac cagtccctgg
     1501 ccccagccca ggtcccccag agccagtcat gttgccacag ccaacctcgc agccaccagt
     1561 gccccagctc cccgagggtg aggcctcccg ctgcctgttt ctgctggctc ctgggccccg
     1621 ggacggtgag aaggtgccca accgggacag cggcattgat agcatcagct cgccatccaa
     1681 cagcgaggag acctgcttcg tcagtgatga cgggcccccc agccacagcc tctgccctgg
     1741 gccccctgcc ctggctagtg tgcctgttgc cttggccgac ccccaccggc ctggctccca
     1801 agaggttgac agtgacctgg aggaggagga cgacgaggag gaggaggaag agaaggacag
     1861 agaaatccca gtgcccctga tggagagaca ggagtctgtg gagttgactg tgcagcaaaa
     1921 ggtgtttcac attgccaatg agctcctgca aactgagaag gcctacgttt ccaggctcca
     1981 tctcctggat caggtgttct gtgcccggct gctggaagaa gctcggaacc gcagttcctt
     2041 cccggccgac gttgtccacg gcatcttctc taacatctgc tccatctatt gcttccacca
     2101 gcagttcctg ctgcctgagc tagagaagcg catggaggaa tgggaccgct atccacgcat
     2161 tggagacatc ctgcagaaac tggccccctt cctcaagatg tatggtgagt atgtgaagaa
     2221 ctttgaccgg gccgtggagc tggtcaacac ctggacagag cgctccaccc agtttaaagt
     2281 catcatccat gaggtgcaga aggaggaagc ctgtggcaac ctgacattgc agcaccacat
     2341 gctggagcct gtgcagcgca tcccccgcta tgagcttctt ctcaaggact atctgttaaa
     2401 gctgccccat ggctccccgg acagcaagga tgcccaaaag tctctggagc tgatcgccac
     2461 agcagcagag cactcgaatg ctgccatccg caaaatggag cgaatgcata agctgctgaa
     2521 ggtatatgag ctgttagggg gcgaggagga cattgtcagc cccaccaaag agctcataaa
     2581 agaaggccac atccttaagc tgtcagcaaa gaatgggacc actcaagacc gatacctcat
     2641 actattcaac gaccgcctcc tttactgcgt gcccaggctg cggctccttg gccagaagtt
     2701 tagcgtgcgg gcacgcattg atgtagatgg catggagcta aaggagagct ccaacctcaa
     2761 tctgcctcga accttcctgg tgtcaggaaa gcagcgctcc ctcgagctcc aggccaggac
     2821 tgaggaggag aagaaagact gggtccaggc catcaactcc accctcctga agcatgaaca
     2881 gacgctggag actttcaaac tgttgaactc aacaaacagg gaagatgaag acaccccacc
     2941 caactctcca aacgtggatc ttgggaagcg ggcacctacg cccatccggg aaaaggaagt
     3001 caccatgtgc atgcgctgcc aggagccctt caattctatc accaaacgca ggcaccactg
     3061 caaggcctgc gggcatgtgg tttgtgggaa gtgctccgag ttccgggccc gcctcgtcta
     3121 tgacaacaac cgctccaacc gtgtgtgcac tgattgctat gtggccttgc acggggtgcc
     3181 tgggagcagt ccagcctgca gccagcatac accccagcgc cggaggtcca tcctggagaa
     3241 acaggcctca gtggctgcag agaacagcgt catctgcagc ttcctgcact acatggagaa
     3301 gggtggcaaa ggatggcaca aggcatggtt cgtggtccct gaaaatgaac ccttggtgct
     3361 gtatatctac ggagcccctc aggatgtgaa agcccagcgc agcctgcccc tcattggctt
     3421 cgaggtggga ccgcccgagg caggggagcg gcctgacaga aggcatgtct tcaagatcac
     3481 ccagagccac ctcagctggt acttcagccc tgagacagag gaactacagc gacgctggat
     3541 ggctgtgctt ggccgggcgg gccgagggga cacgttctgc ccggggccca cactgtctga
     3601 ggacagggag atggaggagg caccggtggc tgctttagga gccactgctg aaccccccga
     3661 atccccccag acccgagaca agacctagag ggtttgggac aaactgggag cccccacccc
     3721 acactctagt tgcccatgtc tgattggggg ctctagcccc ttccctccca gctcagtcaa
     3781 tacttgaact cccatcacgg gcactttcaa tcccgaatgc tgggtcttgg gttttttaat
     3841 tcatcttttc acaaaacgtg ggcttttaaa aaatatattc ctacagtgat gtcaattttt
     3901 attaatccct gtccccaggg agggtgggag ccgttgccag tcctacctga attaggtcgt
     3961 ttttctccct catccctcaa taccctacca cagatcctgc ctccacccag ttccccacaa
     4021 agcaccagag gtaggagacc tggattcaag tgccagctct gccactgacc ctggggcccc
     4081 gacccagccc tgcctcctca gccagtgtct tcacacgtac aactccacgt ggggtggcaa
     4141 ctagacctct cctgcctctc ccatggctta cagcttctac ccggccccaa ggctacccag
     4201 tattttatcg tccagaccca tggcagggcc agcgggcagg acagggaaac aggggggagg
     4261 acaatggata ctcagttttt tgtgtttttt tgtgtgtttt ttttttttta agaaaaatac
     4321 agtttatttc aggcttacag taa
//
