LOCUS       NM_004711               4383 bp    mRNA    linear   PRI 20-SEP-2024
DEFINITION  Homo sapiens synaptogyrin 1 (SYNGR1), transcript variant 1a, mRNA.
ACCESSION   NM_004711
VERSION     NM_004711.5
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 4383)
  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 4383)
  AUTHORS   Sahni,N., Yi,S., Taipale,M., Fuxman Bass,J.I.,
            Coulombe-Huntington,J., Yang,F., Peng,J., Weile,J., Karras,G.I.,
            Wang,Y., Kovacs,I.A., Kamburov,A., Krykbaeva,I., Lam,M.H.,
            Tucker,G., Khurana,V., Sharma,A., Liu,Y.Y., Yachie,N., Zhong,Q.,
            Shen,Y., Palagi,A., San-Miguel,A., Fan,C., Balcha,D., Dricot,A.,
            Jordan,D.M., Walsh,J.M., Shah,A.A., Yang,X., Stoyanova,A.K.,
            Leighton,A., Calderwood,M.A., Jacob,Y., Cusick,M.E.,
            Salehi-Ashtiani,K., Whitesell,L.J., Sunyaev,S., Berger,B.,
            Barabasi,A.L., Charloteaux,B., Hill,D.E., Hao,T., Roth,F.P.,
            Xia,Y., Walhout,A.J.M., Lindquist,S. and Vidal,M.
  TITLE     Widespread macromolecular interaction perturbations in human
            genetic disorders
  JOURNAL   Cell 161 (3), 647-660 (2015)
   PUBMED   25910212
REFERENCE   3  (bases 1 to 4383)
  AUTHORS   Cobb,J., Cule,E., Moncrieffe,H., Hinks,A., Ursu,S., Patrick,F.,
            Kassoumeri,L., Flynn,E., Bulatovic,M., Wulffraat,N., van Zelst,B.,
            de Jonge,R., Bohm,M., Dolezalova,P., Hirani,S., Newman,S.,
            Whitworth,P., Southwood,T.R., De Iorio,M., Wedderburn,L.R. and
            Thomson,W.
  CONSRTM   Childhood Arthritis Response to Medication Study (CHARMS);
            Childhood Arthritis Prospective Study (CAPS); BSPAR study group
  TITLE     Genome-wide data reveal novel genes for methotrexate response in a
            large cohort of juvenile idiopathic arthritis cases
  JOURNAL   Pharmacogenomics J 14 (4), 356-364 (2014)
   PUBMED   24709693
REFERENCE   4  (bases 1 to 4383)
  AUTHORS   Okada,Y., Wu,D., Trynka,G., Raj,T., Terao,C., Ikari,K., Kochi,Y.,
            Ohmura,K., Suzuki,A., Yoshida,S., Graham,R.R., Manoharan,A.,
            Ortmann,W., Bhangale,T., Denny,J.C., Carroll,R.J., Eyler,A.E.,
            Greenberg,J.D., Kremer,J.M., Pappas,D.A., Jiang,L., Yin,J., Ye,L.,
            Su,D.F., Yang,J., Xie,G., Keystone,E., Westra,H.J., Esko,T.,
            Metspalu,A., Zhou,X., Gupta,N., Mirel,D., Stahl,E.A., Diogo,D.,
            Cui,J., Liao,K., Guo,M.H., Myouzen,K., Kawaguchi,T., Coenen,M.J.,
            van Riel,P.L., van de Laar,M.A., Guchelaar,H.J., Huizinga,T.W.,
            Dieude,P., Mariette,X., Bridges,S.L. Jr., Zhernakova,A., Toes,R.E.,
            Tak,P.P., Miceli-Richard,C., Bang,S.Y., Lee,H.S., Martin,J.,
            Gonzalez-Gay,M.A., Rodriguez-Rodriguez,L., Rantapaa-Dahlqvist,S.,
            Arlestig,L., Choi,H.K., Kamatani,Y., Galan,P., Lathrop,M., Eyre,S.,
            Bowes,J., Barton,A., de Vries,N., Moreland,L.W., Criswell,L.A.,
            Karlson,E.W., Taniguchi,A., Yamada,R., Kubo,M., Liu,J.S., Bae,S.C.,
            Worthington,J., Padyukov,L., Klareskog,L., Gregersen,P.K.,
            Raychaudhuri,S., Stranger,B.E., De Jager,P.L., Franke,L.,
            Visscher,P.M., Brown,M.A., Yamanaka,H., Mimori,T., Takahashi,A.,
            Xu,H., Behrens,T.W., Siminovitch,K.A., Momohara,S., Matsuda,F.,
            Yamamoto,K. and Plenge,R.M.
  CONSRTM   RACI consortium; GARNET consortium
  TITLE     Genetics of rheumatoid arthritis contributes to biology and drug
            discovery
  JOURNAL   Nature 506 (7488), 376-381 (2014)
   PUBMED   24390342
REFERENCE   5  (bases 1 to 4383)
  AUTHORS   Lauc,G., Huffman,J.E., Pucic,M., Zgaga,L., Adamczyk,B., Muzinic,A.,
            Novokmet,M., Polasek,O., Gornik,O., Kristic,J., Keser,T.,
            Vitart,V., Scheijen,B., Uh,H.W., Molokhia,M., Patrick,A.L.,
            McKeigue,P., Kolcic,I., Lukic,I.K., Swann,O., van Leeuwen,F.N.,
            Ruhaak,L.R., Houwing-Duistermaat,J.J., Slagboom,P.E., Beekman,M.,
            de Craen,A.J., Deelder,A.M., Zeng,Q., Wang,W., Hastie,N.D.,
            Gyllensten,U., Wilson,J.F., Wuhrer,M., Wright,A.F., Rudd,P.M.,
            Hayward,C., Aulchenko,Y., Campbell,H. and Rudan,I.
  TITLE     Loci associated with N-glycosylation of human immunoglobulin G show
            pleiotropy with autoimmune diseases and haematological cancers
  JOURNAL   PLoS Genet 9 (1), e1003225 (2013)
   PUBMED   23382691
REFERENCE   6  (bases 1 to 4383)
  AUTHORS   Verma,R., Chauhan,C., Saleem,Q., Gandhi,C., Jain,S. and
            Brahmachari,S.K.
  TITLE     A nonsense mutation in the synaptogyrin 1 gene in a family with
            schizophrenia
  JOURNAL   Biol Psychiatry 55 (2), 196-199 (2004)
   PUBMED   14732601
  REMARK    GeneRIF: This research found a novel nonsense mutation (Trp27Ter)
            in exon 2 of the SYNGR1 gene in a family multiply affected with
            schizophrenia. And expressed in the brain.
REFERENCE   7  (bases 1 to 4383)
  AUTHORS   Mirnics,K., Middleton,F.A., Marquez,A., Lewis,D.A. and Levitt,P.
  TITLE     Molecular characterization of schizophrenia viewed by microarray
            analysis of gene expression in prefrontal cortex
  JOURNAL   Neuron 28 (1), 53-67 (2000)
   PUBMED   11086983
REFERENCE   8  (bases 1 to 4383)
  AUTHORS   Dunham,I., Shimizu,N., Roe,B.A., Chissoe,S., Hunt,A.R.,
            Collins,J.E., Bruskiewich,R., Beare,D.M., Clamp,M., Smink,L.J.,
            Ainscough,R., Almeida,J.P., Babbage,A., Bagguley,C., Bailey,J.,
            Barlow,K., Bates,K.N., Beasley,O., Bird,C.P., Blakey,S.,
            Bridgeman,A.M., Buck,D., Burgess,J., Burrill,W.D., O'Brien,K.P. et
            al.
  TITLE     The DNA sequence of human chromosome 22
  JOURNAL   Nature 402 (6761), 489-495 (1999)
   PUBMED   10591208
  REMARK    Erratum:[Nature 2000 Apr 20;404(6780):904]
REFERENCE   9  (bases 1 to 4383)
  AUTHORS   Janz,R., Sudhof,T.C., Hammer,R.E., Unni,V., Siegelbaum,S.A. and
            Bolshakov,V.Y.
  TITLE     Essential roles in synaptic plasticity for synaptogyrin I and
            synaptophysin I
  JOURNAL   Neuron 24 (3), 687-700 (1999)
   PUBMED   10595519
REFERENCE   10 (bases 1 to 4383)
  AUTHORS   Kedra,D., Pan,H.Q., Seroussi,E., Fransson,I., Guilbaud,C.,
            Collins,J.E., Dunham,I., Blennow,E., Roe,B.A., Piehl,F. and
            Dumanski,J.P.
  TITLE     Characterization of the human synaptogyrin gene family
  JOURNAL   Hum Genet 103 (2), 131-141 (1998)
   PUBMED   9760194
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from BI667990.1, AJ002305.1,
            BC000731.2, DA337769.1, BX501388.1 and AA412350.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Nov 22, 2018 this sequence version replaced NM_004711.4.
            
            Summary: This gene encodes an integral membrane protein associated
            with presynaptic vesicles in neuronal cells. The exact function of
            this protein is unclear, but studies of a similar murine protein
            suggest that it functions in synaptic plasticity without being
            required for synaptic transmission. The gene product belongs to the
            synaptogyrin gene family. Three alternatively spliced variants
            encoding three different isoforms have been identified. [provided
            by RefSeq, Jul 2008].
            
            Transcript Variant: This variant (1a) represents the longest
            transcript and encodes the longest predominantly expressed isoform.
            
            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 :: AJ002305.1, SRR1660807.24951.1
                                           [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000328933.10/ ENSP00000332287.5
            RefSeq Select criteria :: based on conservation, longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-20                BI667990.1         67-86
            21-70               AJ002305.1         1-50
            71-503              BC000731.2         77-509
            504-627             AJ002305.1         484-607
            628-969             AJ002305.1         611-952
            970-1071            DA337769.1         41-142
            1072-1246           AJ002305.1         1055-1229
            1247-1512           DA337769.1         319-584
            1513-1540           AJ002305.1         1496-1523
            1541-1988           BX501388.1         189-636
            1989-4231           AJ002305.1         1972-4214
            4232-4290           AA412350.1         239-297
            4291-4383           AJ002305.1         4274-4366
FEATURES             Location/Qualifiers
     source          1..4383
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="22"
                     /map="22q13.1"
     gene            1..4383
                     /gene="SYNGR1"
                     /note="synaptogyrin 1"
                     /db_xref="GeneID:9145"
                     /db_xref="HGNC:HGNC:11498"
                     /db_xref="MIM:603925"
     exon            1..119
                     /gene="SYNGR1"
                     /inference="alignment:Splign:2.1.0"
     CDS             21..722
                     /gene="SYNGR1"
                     /note="isoform 1a is encoded by transcript variant 1a"
                     /codon_start=1
                     /product="synaptogyrin-1 isoform 1a"
                     /protein_id="NP_004702.2"
                     /db_xref="CCDS:CCDS13989.1"
                     /db_xref="GeneID:9145"
                     /db_xref="HGNC:HGNC:11498"
                     /db_xref="MIM:603925"
                     /translation="MEGGAYGAGKAGGAFDPYTLVRQPHTILRVVSWLFSIVVFGSIV
                     NEGYLNSASEGEEFCIYNRNPNACSYGVAVGVLAFLTCLLYLALDVYFPQISSVKDRK
                     KAVLSDIGVSAFWAFLWFVGFCYLANQWQVSKPKDNPLNEGTDAARAAIAFSFFSIFT
                     WAGQAVLAFQRYQIGADSALFSQDYMDPSQDSSMPYAPYVEPTGPDPAGMGGTYQQPA
                     NTFDTEPQGYQSQGY"
     exon            120..357
                     /gene="SYNGR1"
                     /inference="alignment:Splign:2.1.0"
     exon            358..503
                     /gene="SYNGR1"
                     /inference="alignment:Splign:2.1.0"
     exon            504..4383
                     /gene="SYNGR1"
                     /inference="alignment:Splign:2.1.0"
     regulatory      4360..4365
                     /regulatory_class="polyA_signal_sequence"
                     /gene="SYNGR1"
                     /note="hexamer: AATAAA"
     polyA_site      4383
                     /gene="SYNGR1"
                     /note="major polyA site"
ORIGIN      
        1 accgcgcggg tgcagccacg atggaagggg gtgcgtacgg agcgggcaaa gccgggggcg
       61 ccttcgaccc ctacaccctg gtccggcagc cgcacaccat cctgcgcgtc gtgtcttggc
      121 tgttctccat agtggtgttc ggctccatcg tgaacgaggg ctacctcaac agcgcctccg
      181 agggggagga gttctgcatc tacaaccgca accccaacgc ctgcagctat ggcgtggccg
      241 tgggcgtgct cgccttcctc acctgcctgc tgtacctggc cctggacgtg tacttcccgc
      301 agatcagcag cgtcaaggac cgcaagaaag ccgtcctgtc cgacatcggt gtctcggcct
      361 tctgggcttt cctctggttc gtgggattct gctacctggc caaccagtgg caggtctcca
      421 agcccaagga caacccactg aacgaaggga cggacgcagc ccgggccgcc atcgccttct
      481 cctttttctc catcttcacc tgggcgggcc aggctgtgct ggccttccag cggtaccaga
      541 ttggcgccga ctcggccctc ttctcccagg actacatgga ccccagccag gactccagca
      601 tgccttacgc gccctacgtg gagcccactg ggccggatcc cgccggtatg ggcggcacct
      661 accagcagcc ggccaacacc ttcgacaccg agccccaggg ctaccagtcg cagggctact
      721 gagccacagt gaccgcctgc ccccgcccct ccccatctgt cccctctctc cacacccagc
      781 ccctgctcct gcccaggctg ccctgcccag cgcctcatca gcctctgcct tgtcccactg
      841 aggtccaggg tagctcgggg caggggtggg gcagtccagt gttggggact gtctacgtat
      901 gtgcaagtat atcccagggc atgtgccccg caggggccta gagggtgggg gccaggggta
      961 tttgcattca tacattgtgt catcaagcat tccttgagcg cctactgggc atccggcctg
     1021 tgctgggcat gggtggtgac attggcagaa atggccactg gaaaggggag cgatgagctg
     1081 tggaggaagc cctggtggta ccagaggcca gaatggtggg aaagacagat ccagataatg
     1141 ctgggaagtg tggctacacc gtggcttggt catagggtga gtgtaaacac ccacaggaca
     1201 ctgggggctg tcaccctgct ctggcagtcc tgctaagagt gtcagggccg tctccatttt
     1261 atggttgagg aaactgaggt ctagagaggt caagattact tgcccagaat cactcaggca
     1321 gctagtgata gaggtggggc caagcccagg ctgcccgact gcagaccacg tgctcttccc
     1381 tggccaccca cctcctacca tccccacgct tggggcttcc ctgctcagtg ttactgtcat
     1441 tctgggaggc cttggggccc tcagcccctt gagacaccct gattctgctg catgccaagg
     1501 gcctgttctg ccccagctgt tcctcctccc ctggggacag ccccacctcc gggtccctcc
     1561 acccacatcc ccctggtcct acccctggcc cttggcctcc tccaagaggg ctcaccccgg
     1621 gtgctgctct gtgctctgcg tgtcccacag acgcttgttc cagggggctc cagcaaaccc
     1681 cttcgtggtc tctcaaagga ctgatcactg tccttgcctc taggaggggt cactaagccc
     1741 ttacctaggg ctgggtggac aacaaggcac agatgagggt gtgactggcc cgaggtcacg
     1801 gtgagtgagt ggcaaagctg gccctgacgc ctgggtttct tggccccagc tgcccagcag
     1861 gtgcctcgat tccctgccct tgtgacctcc caggaaacag aactgatctg ggacactatg
     1921 tcacctctcc tctcatctgg ggtcagtcag ggttcggggg ctgcagcagc caagcgcatg
     1981 agaggtgttt ccttggcctt ccagaaggcc cactgtggag ccagcctccc tatgggaggc
     2041 agagcggcaa ggacagggct ttggaatcag ccaggtcggc tcctgggctg tggccgtgga
     2101 gagacactgc ccccaggatg acacaggcaa gagcccctga ggcatgggag gcccagggaa
     2161 gaccatgggc tgtaggggag agtgtggcag gtgacccaaa ggcccaaaga gggccgtggg
     2221 gcctgaggag gtcataatct cttctgagtg ggggcaggtc gattcttgca caaggtgggc
     2281 tcttcactga gccataaggg acagggaggt atgggagagc gctgggggcc catccccctg
     2341 tccacccagt gtccactggc ctgtccttca gggagcagag cagagcaggt ggtggacggg
     2401 cccagtgctg ggtgttttca ccaccatccc cccatccccc atctaagaat cctaagaggc
     2461 aggcgatccc tcacctgctt actcactcag cagttacccg gcccctgtgc tggagatacc
     2521 aagggcatgg gtggtccctg cttcgatggc cccaaagctg ggccagagtt aagggaaaga
     2581 ggaggaagtc ctaagcagag aagtagcacc attatcccca tttaacagaa gggaaactga
     2641 ggctcggcaa gcataggcga gttggcagtg gaacacggat ctaaactcag gtgtgtccaa
     2701 gtcctcccaa aggacagcag tgatggagag gaccccagcc agctgtgtga cagctggttg
     2761 ttgctgactt cattttccaa tccggagaag gggctctgtc cacagtcccc cgccgccagg
     2821 tggcccacat gggaccagca tgggggcagg ttatctgttg gcctgaagag tgaaacctgt
     2881 accaggccaa aggtgagggc gtgagtgagg gcaggagtgt ttatggcaga gtgaagttct
     2941 gtgcccacca caagaggctg tgagatgttc tgaccctcac ccactgtcca ccaaaagcct
     3001 ctcctgctga tgggcactag gagacctcag ggtactgccc atctgtttct cctcgggtgc
     3061 cagccagctg ctggtgatcc tcagccggag ggcagggtac caggtaagct taactccatc
     3121 ttgggtgttt gtgacaggcc ctgcctgcca ccctaggcag ggaaagctgt caagactcct
     3181 gccaggaatg gggggtgctg agtcatctca cgaagaatcc ctcactcttc ccgggttcag
     3241 cccagaagcc cttccaggca tgatcttccc catcaggctg ggctctggca gggacctgcc
     3301 caggatggag atgagagagg gtgagagatg gagggcgaga tttggatggg acccagggct
     3361 cctgactctg ccctggaagg ttcatgggga aactcgctcc ttctgttggc agaggacagc
     3421 ccctggggaa ccccaggccc aactctgtcc ggtatccctt ttcctcccag ctgccctccc
     3481 ctacttctcc cttgctccca aagctttcct tggagaaggg ccctcctgca gctggaccct
     3541 gcagggtggc tccctcctcc ccatcaagca caagagaggg cccaggaaaa aaggtttcac
     3601 ataagtgtag agtcgcaagg acgcttagag tcggcagagt ctggggtagg gagacagcga
     3661 cttgtccaag gtcaagcaca gagggagagg ttcaggagtc aggtcttctg ccttctgagt
     3721 tggctcatcc tgggcagtca cagactgtcc tgcctgcacg gctcctatcc acctgggggt
     3781 gtcgcagttg aggggctaat tcccagggga ctgacgttag ttccctactc catccttccc
     3841 tggtgattct tgatcttcaa agcctcgggg atcccaggtt tccccatgta actgagacac
     3901 cctgcctgtt agccctggga gacccctaac cttggcccaa gacccctttg attctctaag
     3961 gagcacgaaa gggggaatgc ccctcccagg agtttatggg agaagggact gggccggctg
     4021 cctcccagcg atgcacttga cctgacactc cccatgtcct ggtgcgcaca gcccttgtcg
     4081 gtgccccggc ccctcccgca gcgttactgc ctgtgtatag tataaatata tatattttct
     4141 atatataaga tgtataatat aaggctccac aaatatatct gtgtgtgtgt gtgcgtgtgt
     4201 gtgcggtgaa gggcggtccc catcctgggc ccccactcta gaccccccca ccacctggtt
     4261 aagtctcgag tgaatccagt ggccccgtgg caccctcctt tatgacatcc atccatctgt
     4321 ggtgaaccaa gtgaaggtgg tgacttctgg tgacatagta ataaagtgaa gactcagaac
     4381 cca
//
