LOCUS       NM_012437               1003 bp    mRNA    linear   PRI 20-SEP-2024
DEFINITION  Homo sapiens SNAP associated protein (SNAPIN), transcript variant
            1, mRNA.
ACCESSION   NM_012437
VERSION     NM_012437.6
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 1003)
  AUTHORS   Jeong,S., Rhee,J.S. and Lee,J.H.
  TITLE     Snapin Specifically Up-Regulates Cav1.3 Ca2+ Channel Variant with a
            Long Carboxyl Terminus
  JOURNAL   Int J Mol Sci 22 (20), 11268 (2021)
   PUBMED   34681928
  REMARK    GeneRIF: Snapin Specifically Up-Regulates Cav1.3 Ca(2+) Channel
            Variant with a Long Carboxyl Terminus.
            Publication Status: Online-Only
REFERENCE   2  (bases 1 to 1003)
  AUTHORS   Jiang,M., Kuang,Z., He,Y., Cao,Y., Yu,T., Cheng,J., Liu,W. and
            Wang,W.
  TITLE     SNAPIN Regulates Cell Cycle Progression to Promote Pancreatic beta
            Cell Growth
  JOURNAL   Front Endocrinol (Lausanne) 12, 624309 (2021)
   PUBMED   34194388
  REMARK    GeneRIF: SNAPIN Regulates Cell Cycle Progression to Promote
            Pancreatic beta Cell Growth.
            Publication Status: Online-Only
REFERENCE   3  (bases 1 to 1003)
  AUTHORS   Huttlin,E.L., Bruckner,R.J., Navarrete-Perea,J., Cannon,J.R.,
            Baltier,K., Gebreab,F., Gygi,M.P., Thornock,A., Zarraga,G., Tam,S.,
            Szpyt,J., Gassaway,B.M., Panov,A., Parzen,H., Fu,S., Golbazi,A.,
            Maenpaa,E., Stricker,K., Guha Thakurta,S., Zhang,T., Rad,R.,
            Pan,J., Nusinow,D.P., Paulo,J.A., Schweppe,D.K., Vaites,L.P.,
            Harper,J.W. and Gygi,S.P.
  TITLE     Dual proteome-scale networks reveal cell-specific remodeling of the
            human interactome
  JOURNAL   Cell 184 (11), 3022-3040 (2021)
   PUBMED   33961781
REFERENCE   4  (bases 1 to 1003)
  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   5  (bases 1 to 1003)
  AUTHORS   Sugis,E., Dauvillier,J., Leontjeva,A., Adler,P., Hindie,V.,
            Moncion,T., Collura,V., Daudin,R., Loe-Mie,Y., Herault,Y.,
            Lambert,J.C., Hermjakob,H., Pupko,T., Rain,J.C., Xenarios,I.,
            Vilo,J., Simonneau,M. and Peterson,H.
  TITLE     HENA, heterogeneous network-based data set for Alzheimer's disease
  JOURNAL   Sci Data 6 (1), 151 (2019)
   PUBMED   31413325
  REMARK    Publication Status: Online-Only
REFERENCE   6  (bases 1 to 1003)
  AUTHORS   Starcevic,M. and Dell'Angelica,E.C.
  TITLE     Identification of snapin and three novel proteins (BLOS1, BLOS2,
            and BLOS3/reduced pigmentation) as subunits of biogenesis of
            lysosome-related organelles complex-1 (BLOC-1)
  JOURNAL   J Biol Chem 279 (27), 28393-28401 (2004)
   PUBMED   15102850
REFERENCE   7  (bases 1 to 1003)
  AUTHORS   Hunt,R.A., Edris,W., Chanda,P.K., Nieuwenhuijsen,B. and Young,K.H.
  TITLE     Snapin interacts with the N-terminus of regulator of G protein
            signaling 7
  JOURNAL   Biochem Biophys Res Commun 303 (2), 594-599 (2003)
   PUBMED   12659861
  REMARK    GeneRIF: results suggest that RGS7 could play a role in synaptic
            vesicle exocytosis through its interaction with snapin
REFERENCE   8  (bases 1 to 1003)
  AUTHORS   Wistow,G., Bernstein,S.L., Ray,S., Wyatt,M.K., Behal,A.,
            Touchman,J.W., Bouffard,G., Smith,D. and Peterson,K.
  TITLE     Expressed sequence tag analysis of adult human iris for the NEIBank
            Project: steroid-response factors and similarities with retinal
            pigment epithelium
  JOURNAL   Mol Vis 8, 185-195 (2002)
   PUBMED   12107412
  REMARK    Publication Status: Online-Only
REFERENCE   9  (bases 1 to 1003)
  AUTHORS   Chheda,M.G., Ashery,U., Thakur,P., Rettig,J. and Sheng,Z.H.
  TITLE     Phosphorylation of Snapin by PKA modulates its interaction with the
            SNARE complex
  JOURNAL   Nat Cell Biol 3 (4), 331-338 (2001)
   PUBMED   11283605
REFERENCE   10 (bases 1 to 1003)
  AUTHORS   Ilardi,J.M., Mochida,S. and Sheng,Z.H.
  TITLE     Snapin: a SNARE-associated protein implicated in synaptic
            transmission
  JOURNAL   Nat Neurosci 2 (2), 119-124 (1999)
   PUBMED   10195194
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from BI117540.1, BC000761.2 and
            AI018675.1.
            
            On May 17, 2019 this sequence version replaced NM_012437.5.
            
            Summary: The protein encoded by this gene is a coiled-coil-forming
            protein that associates with the SNARE (soluble
            N-ethylmaleimide-sensitive fusion protein attachment protein
            receptor) complex of proteins and the BLOC-1 (biogenesis of
            lysosome-related organelles) complex. Biochemical studies have
            identified additional binding partners. As part of the SNARE
            complex, it is required for vesicle docking and fusion and
            regulates neurotransmitter release. The BLOC-1 complex is required
            for the biogenesis of specialized organelles such as melanosomes
            and platelet dense granules. Mutations in gene products that form
            the BLOC-1 complex have been identified in mouse strains that are
            models of Hermansky-Pudlak syndrome. Alternative splicing results
            in multiple transcript variants. [provided by RefSeq, Jun 2012].
            
            Transcript Variant: This variant (1) represents the longest
            transcript and encodes the supported protein.
            
            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 :: AK024555.1, BC000761.2 [ECO:0000332]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000368685.6/ ENSP00000357674.5
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-22                BI117540.1         51-72
            23-981              BC000761.2         1-959
            982-1003            AI018675.1         5-26                c
FEATURES             Location/Qualifiers
     source          1..1003
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /map="1q21.3"
     gene            1..1003
                     /gene="SNAPIN"
                     /gene_synonym="BLOC1S7; BLOS7; BORCS3; SNAPAP"
                     /note="SNAP associated protein"
                     /db_xref="GeneID:23557"
                     /db_xref="HGNC:HGNC:17145"
                     /db_xref="MIM:607007"
     exon            1..184
                     /gene="SNAPIN"
                     /gene_synonym="BLOC1S7; BLOS7; BORCS3; SNAPAP"
                     /inference="alignment:Splign:2.1.0"
     CDS             42..452
                     /gene="SNAPIN"
                     /gene_synonym="BLOC1S7; BLOS7; BORCS3; SNAPAP"
                     /note="SNARE associated protein snapin; SNAP-25-binding
                     protein; synaptosomal-associated protein 25-binding
                     protein; biogenesis of lysosomal organelles complex-1,
                     subunit 7; BLOC-1 subunit 7; biogenesis of
                     lysosome-related organelles complex 1 subunit 7; BLOC-1
                     related complex subunit 3"
                     /codon_start=1
                     /product="SNARE-associated protein Snapin"
                     /protein_id="NP_036569.1"
                     /db_xref="CCDS:CCDS1049.1"
                     /db_xref="GeneID:23557"
                     /db_xref="HGNC:HGNC:17145"
                     /db_xref="MIM:607007"
                     /translation="MAGAGSAAVSGAGTPVAGPTGRDLFAEGLLEFLRPAVQQLDSHV
                     HAVRESQVELREQIDNLATELCRINEDQKVALDLDPYVKKLLNARRRVVLVNNILQNA
                     QERLRRLNHSVAKETARRRAMLDSGIYPPGSPGK"
     exon            185..231
                     /gene="SNAPIN"
                     /gene_synonym="BLOC1S7; BLOS7; BORCS3; SNAPAP"
                     /inference="alignment:Splign:2.1.0"
     exon            232..350
                     /gene="SNAPIN"
                     /gene_synonym="BLOC1S7; BLOS7; BORCS3; SNAPAP"
                     /inference="alignment:Splign:2.1.0"
     exon            351..1003
                     /gene="SNAPIN"
                     /gene_synonym="BLOC1S7; BLOS7; BORCS3; SNAPAP"
                     /inference="alignment:Splign:2.1.0"
     regulatory      964..969
                     /regulatory_class="polyA_signal_sequence"
                     /gene="SNAPIN"
                     /gene_synonym="BLOC1S7; BLOS7; BORCS3; SNAPAP"
                     /note="hexamer: AATAAA"
     polyA_site      981
                     /gene="SNAPIN"
                     /gene_synonym="BLOC1S7; BLOS7; BORCS3; SNAPAP"
                     /note="major polyA site"
ORIGIN      
        1 gcggccctcg cggcaggttt cgggcttcag gacaattcgt gatggcgggg gctggttccg
       61 ccgctgtatc gggggcaggg accccggtgg cggggcccac aggccgcgac cttttcgccg
      121 aagggctgct ggagttcctg cgacccgctg tgcagcagct cgactctcac gtacacgccg
      181 tcagagagag ccaggtagag ctccgggaac aaattgacaa cctagccaca gaactgtgcc
      241 gcataaatga ggatcagaag gtggccctgg atcttgaccc ctatgttaag aagctactta
      301 atgcccggcg acgcgttgtc ttggttaaca acattctaca gaatgctcag gaacgactga
      361 gacggctaaa ccacagtgtt gccaaggaaa cagcccgcag gagagcaatg ctggattcgg
      421 gaatttaccc ccctggctcc ccaggcaaat aacagatgag cctatggact cagtagcaca
      481 agtactgttc cccagctgcc ttgtttcaac agacatgcaa agatcctagg agacagtccc
      541 catagacctt cagacattaa aaagggagcc gtacagtttg tttgaagcac ttcgtcttac
      601 ccatttatgt aggggcccca ggaaacctac acacagccag aatgaggttc ccaaaggact
      661 tacattaatt atggctcttg cttcctttca caaatgagct gaggcctcta cttttttttt
      721 taagctgcat acgtgaggct taccttcttc aggactagtt aaccagaggg gcttcctttg
      781 tatgttacat gcctggttac atgggcctgg acagcatgtc ctctacctgt gacttctcat
      841 tttcctgttt acactgggga tttggagggg gcaggcaaag tcaaagtgaa tgacctctgt
      901 ccacccactt ttttattgca ctggcttgaa tacagtagca gtgttgatag aatcatttta
      961 ttcaataaat acttaaaatg atattctagt ttactctggt ata
//
