LOCUS       NM_001007089             797 bp    mRNA    linear   PRI 10-OCT-2024
DEFINITION  Homo sapiens regulated endocrine specific protein 18 (RESP18),
            mRNA.
ACCESSION   NM_001007089 XM_371593
VERSION     NM_001007089.4
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 797)
  AUTHORS   Zhong,X., Han,X., Xie,Q., Chen,W., Geng,D., Guo,G., Chen,X.,
            Zhang,W., Chen,J. and Tang,S.
  TITLE     Identification of RESP18 Gene Mutations Linked to Hereditary
            Non-Syndromic Cleft Lip and Palate in a Southern Chinese Family
  JOURNAL   Med Sci Monit 30, e944294 (2024)
   PUBMED   38970244
  REMARK    GeneRIF: Identification of RESP18 Gene Mutations Linked to
            Hereditary Non-Syndromic Cleft Lip and Palate in a Southern Chinese
            Family.
            Publication Status: Online-Only
REFERENCE   2  (bases 1 to 797)
  AUTHORS   Sosa,L., Torkko,J.M., Primo,M.E., Llovera,R.E., Toledo,P.L.,
            Rios,A.S., Flecha,F.L., Trabucchi,A., Valdez,S.N., Poskus,E.,
            Solimena,M. and Ermacora,M.R.
  TITLE     Biochemical, biophysical, and functional properties of ICA512/IA-2
            RESP18 homology domain
  JOURNAL   Biochim Biophys Acta 1864 (5), 511-522 (2016)
   PUBMED   26836020
  REMARK    GeneRIF: RESP18HD is required for efficient sorting of ICA512 to
            secretory granules: RESP18HD is a key determinant for ICA512
            granule targeting.
REFERENCE   3  (bases 1 to 797)
  AUTHORS   Huang,Y., Xu,J., Liang,M., Hong,X., Suo,H., Liu,J., Yu,M. and
            Huang,F.
  TITLE     RESP18 is involved in the cytotoxicity of dopaminergic neurotoxins
            in MN9D cells
  JOURNAL   Neurotox Res 24 (2), 164-175 (2013)
   PUBMED   23319378
  REMARK    GeneRIF: Over-expression of RESP18 resulted in aggravated cell
            death induced by dopaminergic neurotoxins.
REFERENCE   4  (bases 1 to 797)
  AUTHORS   Zhang,G., Hirai,H., Cai,T., Miura,J., Yu,P., Huang,H.,
            Schiller,M.R., Swaim,W.D., Leapman,R.D. and Notkins,A.L.
  TITLE     RESP18, a homolog of the luminal domain IA-2, is found in dense
            core vesicles in pancreatic islet cells and is induced by high
            glucose
  JOURNAL   J Endocrinol 195 (2), 313-321 (2007)
   PUBMED   17951542
  REMARK    GeneRIF: RESP18 is a luminal protein of DCVs and its expression is
            regulated by exposure to glucose.
REFERENCE   5  (bases 1 to 797)
  AUTHORS   Bloomquist,B.T., Darlington,D.N., Mueller,G.P., Mains,R.E. and
            Eipper,B.A.
  TITLE     Regulated endocrine-specific protein-18: a short-lived novel
            glucocorticoid-regulated endocrine protein
  JOURNAL   Endocrinology 135 (6), 2714-2722 (1994)
   PUBMED   7988462
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AF437883.3 and AC114803.5.
            
            On May 17, 2019 this sequence version replaced NM_001007089.3.
            
            ##Evidence-Data-START##
            Transcript exon combination :: AF437883.3 [ECO:0000332]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000333527.6/ ENSP00000330269.5
            RefSeq Select criteria :: based on longest protein
            ##RefSeq-Attributes-END##
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-53                AF437883.3         1-53
            54-54               AC114803.5         56800-56800         c
            55-789              AF437883.3         55-789
            790-790             AC114803.5         51512-51512         c
            791-795             AF437883.3         791-795
            796-797             AC114803.5         51505-51506         c
FEATURES             Location/Qualifiers
     source          1..797
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="2"
                     /map="2q35"
     gene            1..797
                     /gene="RESP18"
                     /note="regulated endocrine specific protein 18"
                     /db_xref="GeneID:389075"
                     /db_xref="HGNC:HGNC:33762"
                     /db_xref="MIM:612721"
     CDS             1..687
                     /gene="RESP18"
                     /note="regulated endocrine-specific protein 18 homolog"
                     /codon_start=1
                     /product="regulated endocrine-specific protein 18"
                     /protein_id="NP_001007090.3"
                     /db_xref="CCDS:CCDS33382.2"
                     /db_xref="GeneID:389075"
                     /db_xref="HGNC:HGNC:33762"
                     /db_xref="MIM:612721"
                     /translation="MAVDVEFGVAGWWEAAAPLSPSAVAATFTETWPGSERAEPGRIQ
                     HPLWPGSSEGLQLLVCFLLLNSCPGGCSDTSAHDGQDQVGVGQLWPLQGFATPVFQHL
                     QVVLQQIIPQGLFWKDDITQDAMIQKMEHASRLHPQEPCLKDGKALFPTKTTESPLAK
                     VNRDQCFTSEVVSKALKQEVANPVKITYRCSYGGLDMMQAPGPSKEEIIYKIMRLLWA
                     TSYCGPQPCG"
     exon            1..17
                     /gene="RESP18"
                     /inference="alignment:Splign:2.1.0"
     exon            18..232
                     /gene="RESP18"
                     /inference="alignment:Splign:2.1.0"
     exon            233..337
                     /gene="RESP18"
                     /inference="alignment:Splign:2.1.0"
     exon            338..465
                     /gene="RESP18"
                     /inference="alignment:Splign:2.1.0"
     exon            466..555
                     /gene="RESP18"
                     /inference="alignment:Splign:2.1.0"
     exon            556..640
                     /gene="RESP18"
                     /inference="alignment:Splign:2.1.0"
     exon            641..797
                     /gene="RESP18"
                     /inference="alignment:Splign:2.1.0"
     regulatory      775..780
                     /regulatory_class="polyA_signal_sequence"
                     /gene="RESP18"
                     /note="hexamer: ATTAAA"
     polyA_site      797
                     /gene="RESP18"
                     /note="major polyA site"
ORIGIN      
        1 atggcagtgg atgtggaatt cggagtcgcg ggctggtggg aagctgcagc cccgctcagc
       61 ccctcggccg tggccgctac cttcactgag acttggccgg ggagtgagcg cgccgagcct
      121 gggaggatac agcacccact gtggcctggg agctccgagg ggctccagct gcttgtctgc
      181 ttcctgctgc tgaacagctg cccggggggc tgcagcgaca ctagtgccca cgatggtcag
      241 gaccaagtag gagtggggca gctttggccc ctccaaggat ttgccacccc agtcttccag
      301 catttacagg ttgtgctcca gcagattata ccccaaggtc tgttctggaa ggatgacatc
      361 acccaggatg caatgatcca aaagatggag catgccagca gactgcatcc ccaagaacca
      421 tgcctgaagg atgggaaggc acttttcccc actaaaacca ctgagagccc cctggccaag
      481 gtgaacaggg atcagtgctt tacctccgaa gtggtttcta aggccctgaa acaagaggtg
      541 gccaaccctg tcaagattac ctataggtgt tcatatgggg ggctggacat gatgcaggcg
      601 ccgggaccct ctaaggaaga aattatctat aagatcatgc ggcttctctg ggccacttcc
      661 tactgtgggc cgcaaccctg tggctgattg agacctcatg tgaagcctcc ctgccccagc
      721 acccttccca ttgcccttca gaggagcagt tcttggatga cccagatttg aatcattaaa
      781 gtagactctc atgcaaa
//
