LOCUS       NM_015292               4180 bp    mRNA    linear   PRI 21-SEP-2024
DEFINITION  Homo sapiens extended synaptotagmin 1 (ESYT1), transcript variant
            2, mRNA.
ACCESSION   NM_015292
VERSION     NM_015292.3
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 4180)
  AUTHORS   Sassano,M.L., van Vliet,A.R., Vervoort,E., Van Eygen,S., Van den
            Haute,C., Pavie,B., Roels,J., Swinnen,J.V., Spinazzi,M., Moens,L.,
            Casteels,K., Meyts,I., Pinton,P., Marchi,S., Rochin,L.,
            Giordano,F., Felipe-Abrio,B. and Agostinis,P.
  TITLE     PERK recruits E-Syt1 at ER-mitochondria contacts for mitochondrial
            lipid transport and respiration
  JOURNAL   J Cell Biol 222 (3) (2023)
   PUBMED   36821088
  REMARK    GeneRIF: PERK recruits E-Syt1 at ER-mitochondria contacts for
            mitochondrial lipid transport and respiration.
REFERENCE   2  (bases 1 to 4180)
  AUTHORS   Cho,N.H., Cheveralls,K.C., Brunner,A.D., Kim,K., Michaelis,A.C.,
            Raghavan,P., Kobayashi,H., Savy,L., Li,J.Y., Canaj,H., Kim,J.Y.S.,
            Stewart,E.M., Gnann,C., McCarthy,F., Cabrera,J.P., Brunetti,R.M.,
            Chhun,B.B., Dingle,G., Hein,M.Y., Huang,B., Mehta,S.B.,
            Weissman,J.S., Gomez-Sjoberg,R., Itzhak,D.N., Royer,L.A., Mann,M.
            and Leonetti,M.D.
  TITLE     OpenCell: Endogenous tagging for the cartography of human cellular
            organization
  JOURNAL   Science 375 (6585), eabi6983 (2022)
   PUBMED   35271311
REFERENCE   3  (bases 1 to 4180)
  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 4180)
  AUTHORS   Kang,F., Zhou,M., Huang,X., Fan,J., Wei,L., Boulanger,J., Liu,Z.,
            Salamero,J., Liu,Y. and Chen,L.
  TITLE     E-syt1 Re-arranges STIM1 Clusters to Stabilize Ring-shaped ER-PM
            Contact Sites and Accelerate Ca2+ Store Replenishment
  JOURNAL   Sci Rep 9 (1), 3975 (2019)
   PUBMED   30850711
  REMARK    GeneRIF: E-syt1 Re-arranges STIM1 Clusters to Stabilize Ring-shaped
            ER-PM Contact Sites and Accelerate Ca(2+) Store Replenishment.
            Publication Status: Online-Only
REFERENCE   5  (bases 1 to 4180)
  AUTHORS   Kumar,N., Leonzino,M., Hancock-Cerutti,W., Horenkamp,F.A., Li,P.,
            Lees,J.A., Wheeler,H., Reinisch,K.M. and De Camilli,P.
  TITLE     VPS13A and VPS13C are lipid transport proteins differentially
            localized at ER contact sites
  JOURNAL   J Cell Biol 217 (10), 3625-3639 (2018)
   PUBMED   30093493
REFERENCE   6  (bases 1 to 4180)
  AUTHORS   Ghosh,D., Lippert,D., Krokhin,O., Cortens,J.P. and Wilkins,J.A.
  TITLE     Defining the membrane proteome of NK cells
  JOURNAL   J Mass Spectrom 45 (1), 1-25 (2010)
   PUBMED   19946888
REFERENCE   7  (bases 1 to 4180)
  AUTHORS   Craxton,M.
  TITLE     Evolutionary genomics of plant genes encoding N-terminal-TM-C2
            domain proteins and the similar FAM62 genes and synaptotagmin genes
            of metazoans
  JOURNAL   BMC Genomics 8, 259 (2007)
   PUBMED   17672888
  REMARK    Publication Status: Online-Only
REFERENCE   8  (bases 1 to 4180)
  AUTHORS   Meek,S.E., Lane,W.S. and Piwnica-Worms,H.
  TITLE     Comprehensive proteomic analysis of interphase and mitotic
            14-3-3-binding proteins
  JOURNAL   J Biol Chem 279 (31), 32046-32054 (2004)
   PUBMED   15161933
REFERENCE   9  (bases 1 to 4180)
  AUTHORS   Laveder,P., De Pitta,C., Toppo,S., Valle,G. and Lanfranchi,G.
  TITLE     A two-step strategy for constructing specifically self-subtracted
            cDNA libraries
  JOURNAL   Nucleic Acids Res 30 (9), e38 (2002)
   PUBMED   11972353
REFERENCE   10 (bases 1 to 4180)
  AUTHORS   Morris,N.J., Ross,S.A., Neveu,J.M., Lane,W.S. and Lienhard,G.E.
  TITLE     Cloning and preliminary characterization of a 121 kDa protein with
            multiple predicted C2 domains
  JOURNAL   Biochim Biophys Acta 1431 (2), 525-530 (1999)
   PUBMED   10350628
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            DB100366.1, BC004998.1 and AJ346011.1.
            
            On Feb 27, 2020 this sequence version replaced NM_015292.2.
            
            Transcript Variant: This variant (2) uses an alternate in-frame
            splice site in the coding region compared to variant 1. The
            resulting protein (isoform 2) is shorter compared to 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 :: BC004998.1, AK022790.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000394048.10/ ENSP00000377612.5
            RefSeq Select criteria :: based on conservation, expression
            ##RefSeq-Attributes-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-3                 DB100366.1         67-69
            4-4177              BC004998.1         1-4174
            4178-4180           AJ346011.1         285-287
FEATURES             Location/Qualifiers
     source          1..4180
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="12"
                     /map="12q13.2"
     gene            1..4180
                     /gene="ESYT1"
                     /gene_synonym="FAM62A; MBC2"
                     /note="extended synaptotagmin 1"
                     /db_xref="GeneID:23344"
                     /db_xref="HGNC:HGNC:29534"
                     /db_xref="MIM:616670"
     exon            1..443
                     /gene="ESYT1"
                     /gene_synonym="FAM62A; MBC2"
                     /inference="alignment:Splign:2.1.0"
     CDS             54..3368
                     /gene="ESYT1"
                     /gene_synonym="FAM62A; MBC2"
                     /note="isoform 2 is encoded by transcript variant 2;
                     family with sequence similarity 62 (C2 domain containing),
                     member A; extended synaptotagmin protein 1; membrane-bound
                     C2 domain-containing protein; extended synaptotagmin like
                     protein 1"
                     /codon_start=1
                     /product="extended synaptotagmin-1 isoform 2"
                     /protein_id="NP_056107.1"
                     /db_xref="CCDS:CCDS8904.1"
                     /db_xref="GeneID:23344"
                     /db_xref="HGNC:HGNC:29534"
                     /db_xref="MIM:616670"
                     /translation="MERSPGEGPSPSPMDQPSAPSDPTDQPPAAHAKPDPGSGGQPAG
                     PGAAGEALAVLTSFGRRLLVLIPVYLAGAVGLSVGFVLFGLALYLGWRRVRDEKERSL
                     RAARQLLDDEEQLTAKTLYMSHRELPAWVSFPDVEKAEWLNKIVAQVWPFLGQYMEKL
                     LAETVAPAVRGSNPHLQTFTFTRVELGEKPLRIIGVKVHPGQRKEQILLDLNISYVGD
                     VQIDVEVKKYFCKAGVKGMQLHGVLRVILEPLIGDLPFVGAVSMFFIRRPTLDINWTG
                     MTNLLDIPGLSSLSDTMIMDSIAAFLVLPNRLLVPLVPDLQDVAQLRSPLPRGIIRIH
                     LLAARGLSSKDKYVKGLIEGKSDPYALVRLGTQTFCSRVIDEELNPQWGETYEVMVHE
                     VPGQEIEVEVFDKDPDKDDFLGRMKLDVGKVLQASVLDDWFPLQGGQGQVHLRLEWLS
                     LLSDAEKLEQVLQWNWGVSSRPDPPSAAILVVYLDRAQDLPLKKGNKEPNPMVQLSIQ
                     DVTQESKAVYSTNCPVWEEAFRFFLQDPQSQELDVQVKDDSRALTLGALTLPLARLLT
                     APELILDQWFQLSSSGPNSRLYMKLVMRILYLDSSEICFPTVPGCPGAWDVDSENPQR
                     GSSVDAPPRPCHTTPDSQFGTEHVLRIHVLEAQDLIAKDRFLGGLVKGKSDPYVKLKL
                     AGRSFRSHVVREDLNPRWNEVFEVIVTSVPGQELEVEVFDKDLDKDDFLGRCKVRLTT
                     VLNSGFLDEWLTLEDVPSGRLHLRLERLTPRPTAAELEEVLQVNSLIQTQKSAELAAA
                     LLSIYMERAEDLPLRKGTKHLSPYATLTVGDSSHKTKTISQTSAPVWDESASFLIRKP
                     HTESLELQVRGEGTGVLGSLSLPLSELLVADQLCLDRWFTLSSGQGQVLLRAQLGILV
                     SQHSGVEAHSHSYSHSSSSLSEEPELSGGPPHITSSAPELRQRLTHVDSPLEAPAGPL
                     GQVKLTLWYYSEERKLVSIVHGCRSLRQNGRDPPDPYVSLLLLPDKNRGTKRRTSQKK
                     RTLSPEFNERFEWELPLDEAQRRKLDVSVKSNSSFMSRERELLGKVQLDLAETDLSQG
                     VARWYDLMDNKDKGSS"
     exon            444..485
                     /gene="ESYT1"
                     /gene_synonym="FAM62A; MBC2"
                     /inference="alignment:Splign:2.1.0"
     exon            486..620
                     /gene="ESYT1"
                     /gene_synonym="FAM62A; MBC2"
                     /inference="alignment:Splign:2.1.0"
     exon            621..694
                     /gene="ESYT1"
                     /gene_synonym="FAM62A; MBC2"
                     /inference="alignment:Splign:2.1.0"
     exon            695..767
                     /gene="ESYT1"
                     /gene_synonym="FAM62A; MBC2"
                     /inference="alignment:Splign:2.1.0"
     exon            768..857
                     /gene="ESYT1"
                     /gene_synonym="FAM62A; MBC2"
                     /inference="alignment:Splign:2.1.0"
     exon            858..913
                     /gene="ESYT1"
                     /gene_synonym="FAM62A; MBC2"
                     /inference="alignment:Splign:2.1.0"
     exon            914..1037
                     /gene="ESYT1"
                     /gene_synonym="FAM62A; MBC2"
                     /inference="alignment:Splign:2.1.0"
     exon            1038..1214
                     /gene="ESYT1"
                     /gene_synonym="FAM62A; MBC2"
                     /inference="alignment:Splign:2.1.0"
     exon            1215..1297
                     /gene="ESYT1"
                     /gene_synonym="FAM62A; MBC2"
                     /inference="alignment:Splign:2.1.0"
     exon            1298..1346
                     /gene="ESYT1"
                     /gene_synonym="FAM62A; MBC2"
                     /inference="alignment:Splign:2.1.0"
     exon            1347..1433
                     /gene="ESYT1"
                     /gene_synonym="FAM62A; MBC2"
                     /inference="alignment:Splign:2.1.0"
     exon            1434..1526
                     /gene="ESYT1"
                     /gene_synonym="FAM62A; MBC2"
                     /inference="alignment:Splign:2.1.0"
     exon            1527..1598
                     /gene="ESYT1"
                     /gene_synonym="FAM62A; MBC2"
                     /inference="alignment:Splign:2.1.0"
     exon            1599..1685
                     /gene="ESYT1"
                     /gene_synonym="FAM62A; MBC2"
                     /inference="alignment:Splign:2.1.0"
     exon            1686..1835
                     /gene="ESYT1"
                     /gene_synonym="FAM62A; MBC2"
                     /inference="alignment:Splign:2.1.0"
     exon            1836..1991
                     /gene="ESYT1"
                     /gene_synonym="FAM62A; MBC2"
                     /inference="alignment:Splign:2.1.0"
     exon            1992..2168
                     /gene="ESYT1"
                     /gene_synonym="FAM62A; MBC2"
                     /inference="alignment:Splign:2.1.0"
     exon            2169..2251
                     /gene="ESYT1"
                     /gene_synonym="FAM62A; MBC2"
                     /inference="alignment:Splign:2.1.0"
     exon            2252..2300
                     /gene="ESYT1"
                     /gene_synonym="FAM62A; MBC2"
                     /inference="alignment:Splign:2.1.0"
     exon            2301..2390
                     /gene="ESYT1"
                     /gene_synonym="FAM62A; MBC2"
                     /inference="alignment:Splign:2.1.0"
     exon            2391..2486
                     /gene="ESYT1"
                     /gene_synonym="FAM62A; MBC2"
                     /inference="alignment:Splign:2.1.0"
     exon            2487..2558
                     /gene="ESYT1"
                     /gene_synonym="FAM62A; MBC2"
                     /inference="alignment:Splign:2.1.0"
     exon            2559..2645
                     /gene="ESYT1"
                     /gene_synonym="FAM62A; MBC2"
                     /inference="alignment:Splign:2.1.0"
     exon            2646..2786
                     /gene="ESYT1"
                     /gene_synonym="FAM62A; MBC2"
                     /inference="alignment:Splign:2.1.0"
     exon            2787..2941
                     /gene="ESYT1"
                     /gene_synonym="FAM62A; MBC2"
                     /inference="alignment:Splign:2.1.0"
     exon            2942..3040
                     /gene="ESYT1"
                     /gene_synonym="FAM62A; MBC2"
                     /inference="alignment:Splign:2.1.0"
     exon            3041..3172
                     /gene="ESYT1"
                     /gene_synonym="FAM62A; MBC2"
                     /inference="alignment:Splign:2.1.0"
     exon            3173..3278
                     /gene="ESYT1"
                     /gene_synonym="FAM62A; MBC2"
                     /inference="alignment:Splign:2.1.0"
     exon            3279..3328
                     /gene="ESYT1"
                     /gene_synonym="FAM62A; MBC2"
                     /inference="alignment:Splign:2.1.0"
     exon            3329..4180
                     /gene="ESYT1"
                     /gene_synonym="FAM62A; MBC2"
                     /inference="alignment:Splign:2.1.0"
     regulatory      4159..4164
                     /regulatory_class="polyA_signal_sequence"
                     /gene="ESYT1"
                     /gene_synonym="FAM62A; MBC2"
                     /note="hexamer: ATTAAA"
     polyA_site      4180
                     /gene="ESYT1"
                     /gene_synonym="FAM62A; MBC2"
                     /note="major polyA site"
ORIGIN      
        1 aggcaacctc cagccagtcc ctgggtcggg cggatcctcc cagaggtggc acaatggagc
       61 gatctccagg agagggcccc agccccagcc ccatggacca gccctctgct ccctccgacc
      121 ccactgacca gccccccgct gctcacgcaa agccagaccc aggttctggg ggccaacctg
      181 ctggccctgg cgcggcgggt gaggccctgg cggtgctgac ttcattcggg aggcggttgc
      241 tggtgctgat acctgtgtat ttggccgggg cagtgggact cagcgtgggt ttcgtgctct
      301 tcggcctcgc cctctacctg ggctggcgcc gggtccgcga cgagaaagaa cggagccttc
      361 gagcagcgag gcagctactg gacgacgagg agcagctcac tgcgaaaact ctctatatga
      421 gtcatcgaga gctacctgcc tgggtcagct tcccagacgt ggaaaaggct gaatggctca
      481 ataagattgt ggcccaggtc tggcccttcc tgggccagta tatggagaag cttctggctg
      541 aaactgtggc tccggctgtt aggggatcta acccccatct gcaaacattt acatttacac
      601 gagtggaact gggtgaaaag ccattgcgca tcattggagt caaggttcac ccaggtcaga
      661 gaaaagagca gatcctgctg gacttgaaca tcagctatgt aggtgatgtg cagattgatg
      721 tggaagtgaa gaaatatttt tgcaaagcag gagtcaaggg catgcagcta catggcgttt
      781 tgcgggtgat actggagcca ctcattgggg accttccctt cgtgggggct gtgtcaatgt
      841 tcttcatccg acgcccgacc ctagacatca actggacagg gatgaccaac ctgctggata
      901 tcccaggact tagctcactc tctgacacca tgatcatgga ctccattgct gccttcctcg
      961 tgttgcccaa ccgattactg gtgccccttg tgcctgacct tcaagatgtg gctcagttgc
     1021 gttcccctct gcccaggggc attattcgaa ttcacctgct ggctgctcga gggctgagtt
     1081 ccaaggacaa atatgtgaag ggcctgattg agggcaagtc agacccatat gcacttgtgc
     1141 gtttgggtac ccagacattc tgcagtcgtg tcattgatga agaactcaac ccacagtggg
     1201 gagagactta tgaggtgatg gtacacgagg tcccagggca ggagattgaa gtggaggtgt
     1261 tcgacaagga tccagataaa gatgactttc tgggcagaat gaagctggat gtagggaagg
     1321 tgttacaggc tagcgttctg gatgattggt tccctctaca aggtgggcaa ggccaagttc
     1381 acttgaggct agaatggctg tcacttttgt cagatgcaga gaaactggag caggttctac
     1441 agtggaattg gggagtctcc tctcgaccag atcccccgtc agctgccatc ttagttgtct
     1501 acctggatcg ggcccaggat cttcctctga agaaggggaa caaggaaccc aaccctatgg
     1561 tacaactgtc aattcaggat gtgactcagg agagcaaggc tgtctacagt accaactgcc
     1621 cagtgtggga ggaagcgttc cggttcttcc tacaagaccc tcaaagccag gagctcgatg
     1681 tgcaagtgaa ggatgattcc agggccctga ctttaggagc actgacgctg cctctggccc
     1741 gcctgctgac tgccccagaa ctcatcctgg accagtggtt ccagctcagc agctctggtc
     1801 caaactccag actctatatg aaactagtca tgaggatcct gtacttggat tcatcagaaa
     1861 tatgcttccc cacggtgcct ggttgtcctg gtgcttggga cgtggacagt gagaatcccc
     1921 agagaggcag cagtgtggat gccccacctc gaccctgtca cacgactcct gatagccagt
     1981 ttgggactga gcatgtgctt cggatccatg tattagaggc ccaggacctg attgccaaag
     2041 accgtttctt ggggggactg gtgaagggca agtcagaccc ctatgtcaaa ctaaagttgg
     2101 caggacgaag cttccggagc catgttgttc gggaagatct caatccccgc tggaatgagg
     2161 tttttgaggt gatcgtcaca tcagttccag gccaagagct agaggttgaa gtctttgaca
     2221 aggacttgga caaggatgat tttctgggca ggtgtaaagt gcgtctcacc acagtcttaa
     2281 acagtggctt ccttgatgag tggctgaccc tggaggatgt cccatctggc cgcctgcact
     2341 tgcgcctgga gcgtctcacc ccccgtccca ctgctgctga gttagaggag gtgctgcagg
     2401 tgaatagttt gatccagact cagaagagtg cggagctggc tgcggccctg ctatccatct
     2461 atatggagcg ggcagaggac ctcccgctgc gaaaaggcac caagcacctc agcccttatg
     2521 ctactctcac tgtgggagat agttctcata aaaccaagac tatttcgcaa acttcagccc
     2581 ctgtctggga tgagagtgcc tcctttctca tcaggaaacc acacactgag agcctagagt
     2641 tgcaggttcg gggtgagggc actggcgtgc tgggctcatt atccctgccc ctctcagagc
     2701 tcctcgtggc tgaccagctc tgcttggacc gctggtttac actcagcagt ggtcaggggc
     2761 aggtgctact gagagcacag ctagggatcc tggtgtccca gcactcggga gtggaagctc
     2821 atagccacag ctacagccac agctcctcat cgctgagtga agaaccagag ctctcggggg
     2881 gaccccctca catcacctcc tcagccccag agctccggca gcgcctaaca catgttgaca
     2941 gtccccttga ggctccagcc gggcctctgg gccaggtgaa actgactctg tggtactaca
     3001 gtgaagaacg aaagctggtc agcattgttc atggttgccg gtcccttcga cagaatggac
     3061 gtgatcctcc tgatccctat gtgtcactgt tgctactgcc agacaagaac cgaggcacca
     3121 agaggaggac ctcacagaag aagaggaccc tgagtcctga atttaatgaa cggtttgagt
     3181 gggaactccc cctggatgag gcccagagac gaaagctgga tgtctctgtc aagtctaatt
     3241 cctccttcat gtcaagagag cgtgagctgc tggggaaggt gcagctggac ctagctgaga
     3301 cagacctttc ccagggtgta gcccggtggt atgacctgat ggacaacaag gacaagggca
     3361 gctcctagga gctggcgagt cccagcctga ctgctctgtc ttcctgcctt cgtctcgctc
     3421 catcaccgcc tcaatgtgat gagcctaaag ctagggtcca agggcagagc ctgtgccctt
     3481 cagccctttc acctaacagg cccatattcg ggcctttgcc tgaccaaaga gaagaaccgt
     3541 atgttccctt tactgcacgg cctttatcct tctgggcccc tggggcgggg acctgagctg
     3601 gctgtttcct gctttgcctg cacattgttc tcccttcctc ccaactcctc agggccttct
     3661 gtatctgtgc ctggccagtg gcagcactag cagtggtatt agcttatgcc aaatacagct
     3721 ttggaaggat ctttttttct ttaactagat ggtcaccttc ttccctacca cacatgggtg
     3781 ggaaggtgga caggctaacc tctccagctg tgagcctctt agactactgc atgtagcaaa
     3841 tgttcagcag ctcaggcccc catgtccagt tctgtcccca ctgtcctcaa ccctgtcctg
     3901 aaaattctac tgctttgatg gctggggcca gtctcttgtc actttggaaa ctgaggacgc
     3961 gtggattcta ctcaagcctc caagtagtgg catatcagtc ttggagctcc tagctggtga
     4021 tacggagagg gctttggagg acttgggaca gcagggccaa tttttttgcc caagtgccta
     4081 ggctgctaac tcactgacta gaacttaatc tggtacttta cagttttgca ccaactctgc
     4141 caagccactg gatcttacat taaacatcat actcaaacca
//
