LOCUS       NM_006987               2719 bp    mRNA    linear   PRI 08-JUN-2024
DEFINITION  Homo sapiens rabphilin 3A like (without C2 domains) (RPH3AL),
            transcript variant 1, mRNA.
ACCESSION   NM_006987
VERSION     NM_006987.4
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 2719)
  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   2  (bases 1 to 2719)
  AUTHORS   Putcha,B.D., Jia,X., Katkoori,V.R., Salih,C., Shanmugam,C.,
            Jadhav,T., Bovell,L.C., Behring,M.P., Callens,T., Messiaen,L.,
            Bae,S., Grizzle,W.E., Singh,K.P. and Manne,U.
  TITLE     Clinical Implications of Rabphillin-3A-Like Gene Alterations in
            Breast Cancer
  JOURNAL   PLoS One 10 (6), e0129216 (2015)
   PUBMED   26070152
  REMARK    GeneRIF: genetic alterations in RPH3AL are associated with
            aggressive behavior of breast cancers and with short survival of
            patients.
            Publication Status: Online-Only
REFERENCE   3  (bases 1 to 2719)
  AUTHORS   Troyer,J.L., Nelson,G.W., Lautenberger,J.A., Chinn,L., McIntosh,C.,
            Johnson,R.C., Sezgin,E., Kessing,B., Malasky,M., Hendrickson,S.L.,
            Li,G., Pontius,J., Tang,M., An,P., Winkler,C.A., Limou,S., Le
            Clerc,S., Delaneau,O., Zagury,J.F., Schuitemaker,H., van Manen,D.,
            Bream,J.H., Gomperts,E.D., Buchbinder,S., Goedert,J.J., Kirk,G.D.
            and O'Brien,S.J.
  TITLE     Genome-wide association study implicates PARD3B-based AIDS
            restriction
  JOURNAL   J Infect Dis 203 (10), 1491-1502 (2011)
   PUBMED   21502085
REFERENCE   4  (bases 1 to 2719)
  AUTHORS   Shanmugam,C., Katkoori,V.R., Jhala,N.C., Grizzle,W.E. and Manne,U.
  TITLE     Immunohistochemical expression of rabphilin-3A-like (Noc2) in
            normal and tumor tissues of human endocrine pancreas
  JOURNAL   Biotech Histochem 84 (2), 39-45 (2009)
   PUBMED   19212825
REFERENCE   5  (bases 1 to 2719)
  AUTHORS   Katkoori,V.R., Jia,X., Chatla,C., Kumar,S., Ponnazhagan,S.,
            Callens,T., Messiaen,L., Grizzle,W.E. and Manne,U.
  TITLE     Clinical significance of a novel single nucleotide polymorphism in
            the 5' untranslated region of the Rabphillin-3A-Like gene in
            colorectal adenocarcinoma
  JOURNAL   Front Biosci 13, 1050-1061 (2008)
   PUBMED   17981610
  REMARK    GeneRIF: Observational study of gene-disease association. (HuGE
            Navigator)
            Publication Status: Online-Only
REFERENCE   6  (bases 1 to 2719)
  AUTHORS   Milkereit,P., Strauss,D., Bassler,J., Gadal,O., Kuhn,H., Schutz,S.,
            Gas,N., Lechner,J., Hurt,E. and Tschochner,H.
  TITLE     A Noc complex specifically involved in the formation and nuclear
            export of ribosomal 40 S subunits
  JOURNAL   J Biol Chem 278 (6), 4072-4081 (2003)
   PUBMED   12446671
REFERENCE   7  (bases 1 to 2719)
  AUTHORS   Goi,T., Takeuchi,K., Katayama,K., Hirose,K. and Yamaguchi,A.
  TITLE     Mutations of rabphillin-3A-like gene in colorectal cancers
  JOURNAL   Oncol Rep 9 (6), 1189-1192 (2002)
   PUBMED   12375017
  REMARK    GeneRIF: Mutations of rabphillin-3A-like gene is associated with
            colorectal cancers
REFERENCE   8  (bases 1 to 2719)
  AUTHORS   Haynes,L.P., Evans,G.J., Morgan,A. and Burgoyne,R.D.
  TITLE     A direct inhibitory role for the Rab3-specific effector, Noc2, in
            Ca2+-regulated exocytosis in neuroendocrine cells
  JOURNAL   J Biol Chem 276 (13), 9726-9732 (2001)
   PUBMED   11134008
REFERENCE   9  (bases 1 to 2719)
  AUTHORS   Smith,J.S., Tachibana,I., Allen,C., Chiappa,S.A., Lee,H.K.,
            McIver,B., Jenkins,R.B. and Raffel,C.
  TITLE     Cloning of a human ortholog (RPH3AL) of (RNO)Rph3al from a
            candidate 17p13.3 medulloblastoma tumor suppressor locus
  JOURNAL   Genomics 59 (1), 97-101 (1999)
   PUBMED   10395805
REFERENCE   10 (bases 1 to 2719)
  AUTHORS   Kotake,K., Ozaki,N., Mizuta,M., Sekiya,S., Inagaki,N. and Seino,S.
  TITLE     Noc2, a putative zinc finger protein involved in exocytosis in
            endocrine cells
  JOURNAL   J Biol Chem 272 (47), 29407-29410 (1997)
   PUBMED   9367993
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from DA378956.1, AK000469.1,
            BC005153.1, BF507559.1, BU568991.1 and BP275333.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            On May 17, 2019 this sequence version replaced NM_006987.3.
            
            Summary: The protein encoded by this gene plays a direct regulatory
            role in calcium-ion-dependent exocytosis in both endocrine and
            exocrine cells and plays a key role in insulin secretion by
            pancreatic cells. This gene is likely a tumor suppressor.
            Alternative splicing results in multiple transcript variants
            encoding distinct isoforms. [provided by RefSeq, Jun 2010].
            
            Transcript Variant: This variant (1) represents the longest
            transcript and encodes the longer isoform (1). Variants 1 and 2
            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 :: AK000469.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000331302.12/ ENSP00000328977.7
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-22                DA378956.1         36-57
            23-940              AK000469.1         1-918
            941-1781            BC005153.1         1153-1993
            1782-1898           BF507559.1         17-133              c
            1899-2078           BC005153.1         2111-2290
            2079-2435           BU568991.1         222-578
            2436-2719           BP275333.1         299-582
FEATURES             Location/Qualifiers
     source          1..2719
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="17"
                     /map="17p13.3"
     gene            1..2719
                     /gene="RPH3AL"
                     /gene_synonym="NOC2"
                     /note="rabphilin 3A like (without C2 domains)"
                     /db_xref="GeneID:9501"
                     /db_xref="HGNC:HGNC:10296"
                     /db_xref="MIM:604881"
     exon            1..96
                     /gene="RPH3AL"
                     /gene_synonym="NOC2"
                     /inference="alignment:Splign:2.1.0"
     exon            97..272
                     /gene="RPH3AL"
                     /gene_synonym="NOC2"
                     /inference="alignment:Splign:2.1.0"
     exon            273..385
                     /gene="RPH3AL"
                     /gene_synonym="NOC2"
                     /inference="alignment:Splign:2.1.0"
     CDS             309..1256
                     /gene="RPH3AL"
                     /gene_synonym="NOC2"
                     /note="isoform 1 is encoded by transcript variant 1; rab
                     effector Noc2; no C2 domains protein"
                     /codon_start=1
                     /product="rab effector Noc2 isoform 1"
                     /protein_id="NP_008918.1"
                     /db_xref="CCDS:CCDS10994.1"
                     /db_xref="GeneID:9501"
                     /db_xref="HGNC:HGNC:10296"
                     /db_xref="MIM:604881"
                     /translation="MADTIFGSGNDQWVCPNDRQLALRAKLQTGWSVHTYQTEKQRRK
                     QHLSPAEVEAILQVIQRAERLDVLEQQRIGRLVERLETMRRNVMGNGLSQCLLCGEVL
                     GFLGSSSVFCKDCRKKVCTKCGIEASPGQKRPLWLCKICSEQREVWKRSGAWFYKGLP
                     KYILPLKTPGRADDPHFRPLPTEPAEREPRSSETSRIYTWARGRVVSSDSDSDSDLSS
                     SSLEDRLPSTGVRDRKGDKPWKESGGSVEAPRMGFTHPPGHLSGCQSSLASGETGTGS
                     ADPPGGPRPGLTRRAPVKDTPGRAPAADAAPAGPSSCLG"
     exon            386..529
                     /gene="RPH3AL"
                     /gene_synonym="NOC2"
                     /inference="alignment:Splign:2.1.0"
     exon            530..659
                     /gene="RPH3AL"
                     /gene_synonym="NOC2"
                     /inference="alignment:Splign:2.1.0"
     exon            660..746
                     /gene="RPH3AL"
                     /gene_synonym="NOC2"
                     /inference="alignment:Splign:2.1.0"
     exon            747..921
                     /gene="RPH3AL"
                     /gene_synonym="NOC2"
                     /inference="alignment:Splign:2.1.0"
     exon            922..1035
                     /gene="RPH3AL"
                     /gene_synonym="NOC2"
                     /inference="alignment:Splign:2.1.0"
     exon            1036..1184
                     /gene="RPH3AL"
                     /gene_synonym="NOC2"
                     /inference="alignment:Splign:2.1.0"
     exon            1185..2719
                     /gene="RPH3AL"
                     /gene_synonym="NOC2"
                     /inference="alignment:Splign:2.1.0"
     regulatory      2585..2590
                     /regulatory_class="polyA_signal_sequence"
                     /gene="RPH3AL"
                     /gene_synonym="NOC2"
                     /note="hexamer: ATTAAA"
     regulatory      2600..2605
                     /regulatory_class="polyA_signal_sequence"
                     /gene="RPH3AL"
                     /gene_synonym="NOC2"
                     /note="hexamer: ATTAAA"
     polyA_site      2606
                     /gene="RPH3AL"
                     /gene_synonym="NOC2"
                     /note="major polyA site"
     polyA_site      2634
                     /gene="RPH3AL"
                     /gene_synonym="NOC2"
ORIGIN      
        1 ggaacacctc gggtcacccc cgacaacggt ggtgggaggg agagcggcct cctcctccct
       61 ggtggggcct gtctgggtga agcccctctg ttcccgagga tcgtctgcct tattgaaacc
      121 atctaattgg agatccgcag attaggctac caagacacag ctgcctccag cagaatttgt
      181 gtagtggaca cttgtacgtg cactttggag acagcaagca tgaggcctgc agctgacagc
      241 tttgagtggc tgtgaacctg actatggaaa agatgtgact ccccaccccc agccgggtgc
      301 tccgagccat ggccgacacc atcttcggca gcgggaatga tcagtgggtt tgccccaatg
      361 accggcagct tgcccttcga gccaagctgc agacgggctg gtccgtgcac acctaccaga
      421 cggagaagca gaggaggaag cagcacctca gcccggcgga ggtggaggcc atcctgcagg
      481 tcatccagag ggcagagcgg ctcgacgtcc tggagcagca gagaatcggg cggctggtgg
      541 agcggctgga gaccatgagg cggaatgtga tggggaacgg cctgtcccag tgtctgctct
      601 gcggggaggt gctgggcttc ctgggcagct cgtcggtgtt ctgcaaagac tgcaggaaga
      661 aagtctgcac caaatgtggg atcgaggcct cccctggcca gaagcggccc ctgtggctgt
      721 gtaagatctg cagtgagcaa agagaggtct ggaagaggtc gggggcctgg ttctacaaag
      781 ggctccccaa gtatatcttg cccctgaaga cccctggccg agctgatgac ccccacttcc
      841 gacctttgcc cacggaaccg gcagagcgag agcccagaag ctctgagacc agccgcatct
      901 acacgtgggc ccgaggaaga gtggtttcca gtgacagtga cagtgactcg gatcttagct
      961 cctccagcct agaggacaga ctcccatcca ctggggtcag ggaccggaaa ggcgacaaac
     1021 cctggaagga gtcaggtggc agcgtggagg cccccaggat ggggttcacc cacccgccgg
     1081 gccacctctc tgggtgccag agcagcctgg ccagtggtga gacggggaca ggctctgctg
     1141 acccgccagg gggaccccgc cccgggctga cccgaagggc cccggtaaaa gacacacctg
     1201 gacgagcccc cgctgctgac gcagctccag caggcccctc cagctgcctg ggctgaggtg
     1261 tctggtgcct ggaacagact tccctgtgga ggattcctgc cagaccctgc ccggctcctc
     1321 cctgaccggt ccttgtgccc tcaccagaca ccctgttggc catgactcaa caaaccagtg
     1381 ttgggagccg tctgcctccc cagctcagtg cctttctgca ccccttctct cctggggagc
     1441 tgtctgcatc cgccaccccc tccaaccact gccctcagcc cccgacctta tttattaccc
     1501 tcccctccca cacccccaat ctacctggtg atgattttaa gtttgcgcgt gtcttgggtt
     1561 gggctggggg gtttcccaca tgcagtgtca gaggggccgc ccggtggggc tatctccgtt
     1621 gctatattaa tggcaagact aaatgaaacc tagggcacgg cctccgaagc tgcgtgtggc
     1681 cccttagagg tgagcatcag agccagagca gtgaggggga gactcaccca ccctctccct
     1741 ctcccttcag ctctgggagg caggcgcagt gcccccctcc catgggctgg cccaggaccg
     1801 tgggtgaaac ctgggtctgt ttagtttctt tggtttttgt atgtttgttt gtttttgaca
     1861 cagtctcgct ttgttgccca ggctggggtg cagtggcacg atcgcggctc actgcaacct
     1921 ccacctcccg ggctcaagcg attctctcac ctcagcctcc tgagtaggtg ggattacaga
     1981 tgcccgccac cacacccagt taatttttgt atttttagaa gagatggggt ttctccatgt
     2041 tggccaggct ggtcttgaac tcctggtctc aagtgatctg cccgcctcgg cctcccaaag
     2101 tgctgggatt acaggtgtga gccaccgcac ccaatcctat taggtttctt tgaatcccct
     2161 catggcctgc ctggtttttg ctcagcctgt cttcagcttg aggagctggg aagctctggt
     2221 ggatgctatg aactcacttg ctgaagagca gcgttcaggt gcatccccag ccagggcacg
     2281 tggctccctc agccatgaat tcacttctct tcaggaggtt tggcttggca tgaaaatact
     2341 tcattcagag tatgggcaaa tgcttctgga aaacccttcc ctgaagagag agaacgtgtg
     2401 tgtgtgtgtc ggtgatcaca ccctcccatc cttcctgcct cctgccccaa accccgggtt
     2461 cctgggtctg gaagggcctt ctctccaagc tgggagctcc tgggccccca ccattcactt
     2521 tttgtccttg ctgctggcaa acagtaaaga aactcacttt ccctgtggca cgttatgctt
     2581 cagaattaaa acaatgaaga ttaaaatttg caccgagcca gtgtgttgat cgaagaccac
     2641 gattgcctgt gtttctgaga tgcgtccatg gaaaaatgga aaaaactgtg gtgcgttgac
     2701 ttgctggaac ccttcctaa
//
