LOCUS       NM_001143854            4590 bp    mRNA    linear   PRI 19-SEP-2024
DEFINITION  Homo sapiens rabphilin 3A (RPH3A), transcript variant 1, mRNA.
ACCESSION   NM_001143854
VERSION     NM_001143854.2
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 4590)
  AUTHORS   Pavinato,L., Stanic,J., Barzasi,M., Gurgone,A., Chiantia,G.,
            Cipriani,V., Eberini,I., Palazzolo,L., Di Luca,M., Costa,A.,
            Marcantoni,A., Biamino,E., Spada,M., Hiatt,S.M., Kelley,W.V.,
            Vestito,L., Sisodiya,S.M., Efthymiou,S., Chand,P., Kaiyrzhanov,R.,
            Bruselles,A., Cardaropoli,S., Tartaglia,M., De Rubeis,S.,
            Buxbaum,J.D., Smedley,D., Ferrero,G.B., Giustetto,M., Gardoni,F.
            and Brusco,A.
  CONSRTM   Genomics England Research Consortium
  TITLE     Missense variants in RPH3A cause defects in excitatory synaptic
            function and are associated with a clinically variable
            neurodevelopmental disorder
  JOURNAL   Genet Med 25 (11), 100922 (2023)
   PUBMED   37403762
  REMARK    GeneRIF: Missense variants in RPH3A cause defects in excitatory
            synaptic function and are associated with a clinically variable
            neurodevelopmental disorder.
REFERENCE   2  (bases 1 to 4590)
  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   3  (bases 1 to 4590)
  AUTHORS   Liu,M., Jin,H.S. and Park,S.
  TITLE     Protein and fat intake interacts with the haplotype of
            PTPN11_rs11066325, RPH3A_rs886477, and OAS3_rs2072134 to modulate
            serum HDL concentrations in middle-aged people
  JOURNAL   Clin Nutr 39 (3), 942-949 (2020)
   PUBMED   31006500
  REMARK    GeneRIF: Protein and fat intake interacts with the haplotype of
            PTPN11_rs11066325, RPH3A_rs886477, and OAS3_rs2072134 to modulate
            serum HDL concentrations in middle-aged people.
REFERENCE   4  (bases 1 to 4590)
  AUTHORS   Ren,C., Yuan,Q., Jian,X., Randazzo,P.A., Tang,W. and Wu,D.
  TITLE     Small GTPase ARF6 Is a Coincidence-Detection Code for RPH3A
            Polarization in Neutrophil Polarization
  JOURNAL   J Immunol 204 (4), 1012-1021 (2020)
   PUBMED   31924649
  REMARK    GeneRIF: Small GTPase ARF6 Is a Coincidence-Detection Code for
            RPH3A Polarization in Neutrophil Polarization.
REFERENCE   5  (bases 1 to 4590)
  AUTHORS   Quevedo,M.F., Bustos,M.A., Masone,D., Roggero,C.M., Bustos,D.M. and
            Tomes,C.N.
  TITLE     Grab recruitment by Rab27A-Rabphilin3a triggers Rab3A activation in
            human sperm exocytosis
  JOURNAL   Biochim Biophys Acta Mol Cell Res 1866 (4), 612-622 (2019)
   PUBMED   30599141
  REMARK    GeneRIF: Rab27/Rabphilin3a/GRAB/Rab3 constitutes a signaling module
            in sperm exocytosis.
REFERENCE   6  (bases 1 to 4590)
  AUTHORS   Miyazaki,M., Kaibuchi,K., Shirataki,H., Kohno,H., Ueyama,T.,
            Nishikawa,J. and Takai,Y.
  TITLE     Rabphilin-3A binds to a M(r) 115,000 polypeptide in a
            phosphatidylserine- and Ca(2+)-dependent manner
  JOURNAL   Brain Res Mol Brain Res 28 (1), 29-36 (1995)
   PUBMED   7707875
REFERENCE   7  (bases 1 to 4590)
  AUTHORS   Imazumi,K., Sasaki,T., Takahashi,K. and Takai,Y.
  TITLE     Identification of a rabphilin-3A-interacting protein as GTP
            cyclohydrolase I in PC12 cells
  JOURNAL   Biochem Biophys Res Commun 205 (2), 1409-1416 (1994)
   PUBMED   7802677
REFERENCE   8  (bases 1 to 4590)
  AUTHORS   Miyazaki,M., Shirataki,H., Kohno,H., Kaibuchi,K., Tsugita,A. and
            Takai,Y.
  TITLE     Identification as beta-adducin of a protein interacting with
            rabphilin-3A in the presence of Ca2+ and phosphatidylserine
  JOURNAL   Biochem Biophys Res Commun 205 (1), 460-466 (1994)
   PUBMED   7999065
REFERENCE   9  (bases 1 to 4590)
  AUTHORS   Mizoguchi,A., Yano,Y., Hamaguchi,H., Yanagida,H., Ide,C.,
            Zahraoui,A., Shirataki,H., Sasaki,T. and Takai,Y.
  TITLE     Localization of Rabphilin-3A on the synaptic vesicle
  JOURNAL   Biochem Biophys Res Commun 202 (3), 1235-1243 (1994)
   PUBMED   8060298
REFERENCE   10 (bases 1 to 4590)
  AUTHORS   Inagaki,N., Mizuta,M. and Seino,S.
  TITLE     Cloning of a mouse Rabphilin-3A expressed in hormone-secreting
            cells
  JOURNAL   J Biochem 116 (2), 239-242 (1994)
   PUBMED   7822236
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from DA332963.1, AB023202.1 and
            BU738474.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Nov 23, 2018 this sequence version replaced NM_001143854.1.
            
            Summary: The protein encoded by this gene is thought to be an
            effector for RAB3A, which is a small G protein that acts in the
            late stages of neurotransmitter exocytosis. The encoded protein may
            be involved in neurotransmitter release and synaptic vesicle
            traffic. [provided by RefSeq, Dec 2016].
            
            Transcript Variant: This variant (1) encodes the longest isoform
            (1). Variants 1, 3, 4, and 5 all encode the same 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 :: SRR1803613.111935.1,
                                           SRR1660803.79345.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA2145743, SAMEA2146411
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000389385.9/ ENSP00000374036.4
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-158               DA332963.1         5-162
            159-4586            AB023202.1         84-4511
            4587-4590           BU738474.1         12-15               c
FEATURES             Location/Qualifiers
     source          1..4590
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="12"
                     /map="12q24.13"
     gene            1..4590
                     /gene="RPH3A"
                     /note="rabphilin 3A"
                     /db_xref="GeneID:22895"
                     /db_xref="HGNC:HGNC:17056"
                     /db_xref="MIM:612159"
     exon            1..265
                     /gene="RPH3A"
                     /inference="alignment:Splign:2.1.0"
     exon            266..386
                     /gene="RPH3A"
                     /inference="alignment:Splign:2.1.0"
     exon            387..475
                     /gene="RPH3A"
                     /inference="alignment:Splign:2.1.0"
     CDS             405..2489
                     /gene="RPH3A"
                     /note="isoform 1 is encoded by transcript variant 1;
                     exophilin-1; rabphilin 3A homolog"
                     /codon_start=1
                     /product="rabphilin-3A isoform 1"
                     /protein_id="NP_001137326.1"
                     /db_xref="CCDS:CCDS44979.1"
                     /db_xref="GeneID:22895"
                     /db_xref="HGNC:HGNC:17056"
                     /db_xref="MIM:612159"
                     /translation="MTDTVFSNSSNRWMYPSDRPLQSNDKEQLQAGWSVHPGGQPDRQ
                     RKQEELTDEEKEIINRVIARAEKMEEMEQERIGRLVDRLENMRKNVAGDGVNRCILCG
                     EQLGMLGSACVVCEDCKKNVCTKCGVETNNRLHSVWLCKICIEQREVWKRSGAWFFKG
                     FPKQVLPQPMPIKKTKPQQPVSEPAAPEQPAPEPKHPARAPARGDSEDRRGPGQKTGP
                     DPASAPGRGNYGPPVRRASEARMSSSSRDSESWDHSGGAGDSSRSPAGLRRANSVQAS
                     RPAPGSVQSPAPPQPGQPGTPGGSRPGPGPAGRFPDQKPEVAPSDPGTTAPPREERTG
                     GVGGYPAVGAREDRMSHPSGPYSQASAAAPQPAAARQPPPPEEEEEEANSYDSDEATT
                     LGALEFSLLYDQDNSSLQCTIIKAKGLKPMDSNGLADPYVKLHLLPGASKSNKLRTKT
                     LRNTRNPIWNETLVYHGITDEDMQRKTLRISVCDEDKFGHNEFIGETRFSLKKLKPNQ
                     RKNFNICLERVIPMKRAGTTGSARGMALYEEEQVERVGDIEERGKILVSLMYSTQQGG
                     LIVGIIRCVHLAAMDANGYSDPFVKLWLKPDMGKKAKHKTQIKKKTLNPEFNEEFFYD
                     IKHSDLAKKSLDISVWDYDIGKSNDYIGGCQLGISAKGERLKHWYECLKNKDKKIERW
                     HQLQNENHVSSD"
     exon            476..487
                     /gene="RPH3A"
                     /inference="alignment:Splign:2.1.0"
     exon            488..634
                     /gene="RPH3A"
                     /inference="alignment:Splign:2.1.0"
     exon            635..764
                     /gene="RPH3A"
                     /inference="alignment:Splign:2.1.0"
     exon            765..848
                     /gene="RPH3A"
                     /inference="alignment:Splign:2.1.0"
     exon            849..1014
                     /gene="RPH3A"
                     /inference="alignment:Splign:2.1.0"
     exon            1015..1053
                     /gene="RPH3A"
                     /inference="alignment:Splign:2.1.0"
     exon            1054..1200
                     /gene="RPH3A"
                     /inference="alignment:Splign:2.1.0"
     exon            1201..1287
                     /gene="RPH3A"
                     /inference="alignment:Splign:2.1.0"
     exon            1288..1350
                     /gene="RPH3A"
                     /inference="alignment:Splign:2.1.0"
     exon            1351..1575
                     /gene="RPH3A"
                     /inference="alignment:Splign:2.1.0"
     exon            1576..1655
                     /gene="RPH3A"
                     /inference="alignment:Splign:2.1.0"
     exon            1656..1730
                     /gene="RPH3A"
                     /inference="alignment:Splign:2.1.0"
     exon            1731..1840
                     /gene="RPH3A"
                     /inference="alignment:Splign:2.1.0"
     exon            1841..1967
                     /gene="RPH3A"
                     /inference="alignment:Splign:2.1.0"
     exon            1968..2024
                     /gene="RPH3A"
                     /inference="alignment:Splign:2.1.0"
     exon            2025..2179
                     /gene="RPH3A"
                     /inference="alignment:Splign:2.1.0"
     exon            2180..2261
                     /gene="RPH3A"
                     /inference="alignment:Splign:2.1.0"
     exon            2262..2358
                     /gene="RPH3A"
                     /inference="alignment:Splign:2.1.0"
     exon            2359..4590
                     /gene="RPH3A"
                     /inference="alignment:Splign:2.1.0"
     regulatory      4566..4571
                     /regulatory_class="polyA_signal_sequence"
                     /gene="RPH3A"
                     /note="hexamer: AATAAA"
     polyA_site      4590
                     /gene="RPH3A"
                     /note="major polyA site"
ORIGIN      
        1 acacagggct ttgcagtagt ggtggcagcc gcggcagaaa ctggctctgg ggaagcaatt
       61 gattcgtcta ctgccagcag cccggagttg cctacgcgga ctggaaagga agggagaagg
      121 gagagagaga gagagagaga gagagagaga gagagagact cacagagcta aaaccttcat
      181 ccatgtggag gacagtctga gggagccact gtcccttgtc cactgactca ctggctggtc
      241 cgagttttct ccgcttctgg cagtggcacc tccgctgagc ttttaaacca agtcattggg
      301 acttagcgtc tttctacccg gcagggaagg gaggagttgg caagaatttg gctcacccat
      361 tccccctgca agcctccagc gtcgcggagc actagacatc tactatgact gacaccgtgt
      421 tcagcaacag ttctaaccgt tggatgtacc ccagtgaccg gccccttcaa tcaaatgata
      481 aagaacagct ccaggcaggc tggtccgtcc accccggtgg tcagcctgac aggcagagga
      541 agcaggaaga gctgactgat gaggagaaag aaatcatcaa cagggtgatt gctcgagctg
      601 agaaaatgga agagatggag caggagcgaa tcggacgcct ggtggaccgc ctagaaaaca
      661 tgaggaagaa cgtggctgga gatggggtga accgctgcat actgtgtgga gaacagctgg
      721 ggatgctggg ctctgcctgt gtagtatgtg aggactgtaa gaagaacgtc tgcaccaagt
      781 gcggagtgga gaccaacaac cgcctgcatt ctgtgtggct ctgcaaaatc tgcattgagc
      841 agagggaggt gtggaagcgt tctggagcgt ggttcttcaa aggcttcccc aaacaggtcc
      901 tcccacagcc tatgcctata aagaagacca agccccagca gcctgtcagt gagcctgctg
      961 cccctgaaca gcctgctcct gagcccaagc accctgcccg ggctccagct cgaggtgaca
     1021 gtgaagatag gaggggcccg ggtcagaaga caggccctga cccagcctct gctcccgggc
     1081 gaggaaacta tgggcctccc gtgcgcaggg cctccgaggc acgaatgagc tcatctagcc
     1141 gagattcaga gagctgggac cacagtgggg gtgctggaga ctccagccgg agcccagcag
     1201 gtttgagacg ggccaactca gtccaggcct ccagacctgc cccaggctcg gtgcagagcc
     1261 cagcgccacc tcagcctggg cagccaggga ccccaggagg aagcagaccg ggtcctgggc
     1321 cagcaggacg ctttccagat cagaagccag aggtggctcc gagcgaccct gggaccactg
     1381 ccccaccccg agaggagaga acagggggag tcgggggcta cccagcagtt ggagccagag
     1441 aggaccgaat gagccacccc tccggaccct attcccaagc atctgcagct gccccccagc
     1501 ctgctgcagc ccgccagcca ccacccccag aggaggagga agaggaagcc aacagctacg
     1561 attcggatga agcaaccacc ctgggtgccc tggaattcag ccttctctac gaccaggaca
     1621 acagctccct gcagtgcacc atcattaagg ccaagggcct gaagcccatg gattcaaacg
     1681 gcttggctga tccctacgtt aagctgcacc tcctgccggg agccagcaag tccaacaagc
     1741 ttcgtacaaa aactctgcgg aatacccgga accccatctg gaatgagacc ctcgtgtatc
     1801 acggcatcac cgatgaggac atgcaaagga agaccctcag gatctccgtc tgtgatgagg
     1861 acaaatttgg ccacaatgaa tttattggtg agaccagatt ctccctcaag aaactgaagc
     1921 ccaaccagag gaagaatttc aacatctgcc tggagcgagt gattcctatg aaacgtgctg
     1981 ggaccaccgg gtcagcccga ggcatggccc tttatgagga agagcaggtg gagcgtgttg
     2041 gtgacatcga ggagcgtggc aagatcctgg tctccctcat gtacagcaca cagcagggag
     2101 gcctcattgt gggcatcata cgctgcgtgc acctggctgc catggacgct aatggctact
     2161 cagacccatt cgtcaagctc tggctgaaac cggacatggg aaagaaggcc aaacacaaga
     2221 ctcaaattaa aaagaaaacc ttgaatcccg aattcaatga ggagtttttc tatgacatca
     2281 aacacagtga cctggcaaag aagtcactgg acatttcagt ctgggactat gacatcggca
     2341 agtccaatga ttacatcgga ggctgccagc tggggatctc tgccaaggga gagcgcttaa
     2401 aacactggta cgagtgtctg aaaaataaag acaagaagat agagcgctgg caccagctac
     2461 agaatgagaa ccacgtgtca agtgattagg ctagtgccca ggtccccatc tccatgtccc
     2521 gggtcccccc cagcctgctc tagctgccca ccgcaccctg atctctcttc tctatgccta
     2581 cctcccccca taccctgctg atctccctga gcctgccttt gagcccccgt cacgttgggc
     2641 actgctgcca aagactccct cctccctgat gctgggatgt gggctctgaa tacagcccct
     2701 ctctcatccc tgggatggag caatggggat ggggttgggg agacgtttac aaagaggttg
     2761 atcatttaat aacctctcag tttgggtaaa ttacaaaggt tcttcatcat ttaggactgt
     2821 ttttagaccc tcctagcctt gaacacacac atgtacacac acacacacac acacacacac
     2881 acaccctttc attccctgtg ttgtgtctct gtatatcccc agttgtcagc agacccggac
     2941 aatgctgtga gagaagcatt ggggcacaaa tagagcctcc gggctcccac tgccccctga
     3001 gatgtacacc ctgattgcca ggaaaacaga ctgctgtgtt cagtaacaca ccctccctgc
     3061 tccaagtgca ccaggatgca aatgcacaga attcaccagg ggcttggacg ctctcctctt
     3121 tccgaatgtc acctgtgtgc ttcctagcaa aacaaaaaca aacgacaaca acaaaaaacc
     3181 cttcctctgt caccttttct cctcctccct cttctttccc ttccatgata gtagattctc
     3241 tctttctcag cctctcccct ctcctttctc tccctgcctt tcttcccttt gcctttctct
     3301 ctctctaaag cagtaacacc gcaaaaacaa cagcaaaaaa agtgtatgtt aacctagcct
     3361 cacccccttg ctctcaccag cctgaccagg aaactgagaa actggcccaa acctgagatt
     3421 ccacttgggc ccacgcttct taactgaccc actcctcccg ttggcagaac cagacattcc
     3481 cagggcttgg gccaatggct ggcactgccc tgagtgcatg gcagcatccc tcaagctgtg
     3541 tagatgcccc atagaggact ctctcatccg tgggctcccc gggtgggcac ggaggcattt
     3601 agaagaccag ggccatgggt ctgaggaagc ctcagccaaa gcctccagcc tttctccttt
     3661 ctccgctctt aggtaaatga acaagctacc ctcctcccca atgcccttga ctctgtttca
     3721 ttgactcttt tgcatcccat ctctcactca gaaccccctc cagtctctct gtctctcttt
     3781 gtctgtctct ctgtctcctg cactctcgtt actaagcttc ctgggagaat caaataatat
     3841 catggctatg gaacagtaga gagagacagg cctgatgcca aaggctttgg gctcatcatc
     3901 aatctttcac tttcttccta taaaaaaaat tattttataa aggaggaaaa ggcaatgtgg
     3961 gcaaacatta caaatttgag gttgaagtca ggcaatcttc aatgccctgt gagaaaggtt
     4021 cgattttccc aattttgatg aagtcttccc tcatgaaaat cactcccagt catcccaaac
     4081 ccctgacatt ctctacagaa gcatcagaca gatactcaaa ctctcacttt ccccaaatca
     4141 catctcttaa cttttcaacg ccctccaccc tcagctccct gcacaattca tgggaggact
     4201 catttcttgc cttgaataac cattttctaa acatcgagct cttcaccttc cccaaggtgg
     4261 ccaacagctt cctggctgcc atctttcctt ttgaccttat ctttccccat tagtccctgg
     4321 tggcacctac tctcagccca cctccctcac cacagtttcc ccttaggaga cagcatgctg
     4381 gctgtgtcgc ccaagcctga tgctggtgta ggcgctggaa tcagcatgca gcaagctcac
     4441 agtgccccta gtctgggtgc ccgctgtccc cgacaaatgt aaccacctcc ctgcctagaa
     4501 tacacacacg tcctccggtg catgcacaac cacccagcat ctttctttgt gatgatgtag
     4561 ccaaaaataa agtaggagca tccaagaaaa
//
