Full text data of SYNGR1
SYNGR1
[Confidence: medium (present in either hRBCD or BSc_CH or PM22954596)]
Synaptogyrin-1
Synaptogyrin-1
UniProt
O43759
ID SNG1_HUMAN Reviewed; 233 AA.
AC O43759; A6NP69; A8K0E2; O43757; O43758; Q53Y02; Q96J56; Q9UGZ4;
read moreDT 30-MAY-2000, integrated into UniProtKB/Swiss-Prot.
DT 03-OCT-2006, sequence version 2.
DT 22-JAN-2014, entry version 115.
DE RecName: Full=Synaptogyrin-1;
GN Name=SYNGR1;
OS Homo sapiens (Human).
OC Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
OC Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
OC Catarrhini; Hominidae; Homo.
OX NCBI_TaxID=9606;
RN [1]
RP NUCLEOTIDE SEQUENCE [MRNA] (ISOFORMS 1A; 1B AND 1C), AND VARIANT
RP ASN-202 INS.
RX PubMed=9760194; DOI=10.1007/s004390050795;
RA Kedra D., Pan H.-Q., Seroussi E., Fransson I., Guilbaud C.,
RA Collins J.E., Dunham I., Blennow E., Roe B.A., Piehl F.,
RA Dumanski J.P.;
RT "Characterization of the human synaptogyrin gene family.";
RL Hum. Genet. 103:131-141(1998).
RN [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1A), AND VARIANT
RP ASN-202 INS.
RX PubMed=15461802; DOI=10.1186/gb-2004-5-10-r84;
RA Collins J.E., Wright C.L., Edwards C.A., Davis M.P., Grinham J.A.,
RA Cole C.G., Goward M.E., Aguado B., Mallya M., Mokrab Y., Huckle E.J.,
RA Beare D.M., Dunham I.;
RT "A genome annotation-driven approach to cloning the human ORFeome.";
RL Genome Biol. 5:R84.1-R84.11(2004).
RN [3]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1B).
RA Kalnine N., Chen X., Rolfs A., Halleck A., Hines L., Eisenstein S.,
RA Koundinya M., Raphael J., Moreira D., Kelley T., LaBaer J., Lin Y.,
RA Phelan M., Farmer A.;
RT "Cloning of human full-length CDSs in BD Creator(TM) system donor
RT vector.";
RL Submitted (MAY-2003) to the EMBL/GenBank/DDBJ databases.
RN [4]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1A), AND VARIANT
RP ASN-202 INS.
RC TISSUE=Cerebellum;
RX PubMed=14702039; DOI=10.1038/ng1285;
RA Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R.,
RA Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H.,
RA Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S.,
RA Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K.,
RA Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A.,
RA Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M.,
RA Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y.,
RA Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M.,
RA Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K.,
RA Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S.,
RA Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J.,
RA Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y.,
RA Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N.,
RA Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S.,
RA Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S.,
RA Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O.,
RA Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H.,
RA Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B.,
RA Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y.,
RA Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T.,
RA Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y.,
RA Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S.,
RA Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T.,
RA Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M.,
RA Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T.,
RA Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K.,
RA Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R.,
RA Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S.;
RT "Complete sequencing and characterization of 21,243 full-length human
RT cDNAs.";
RL Nat. Genet. 36:40-45(2004).
RN [5]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RX PubMed=10591208; DOI=10.1038/990031;
RA Dunham I., Hunt A.R., Collins J.E., Bruskiewich R., Beare D.M.,
RA Clamp M., Smink L.J., Ainscough R., Almeida J.P., Babbage A.K.,
RA Bagguley C., Bailey J., Barlow K.F., Bates K.N., Beasley O.P.,
RA Bird C.P., Blakey S.E., Bridgeman A.M., Buck D., Burgess J.,
RA Burrill W.D., Burton J., Carder C., Carter N.P., Chen Y., Clark G.,
RA Clegg S.M., Cobley V.E., Cole C.G., Collier R.E., Connor R.,
RA Conroy D., Corby N.R., Coville G.J., Cox A.V., Davis J., Dawson E.,
RA Dhami P.D., Dockree C., Dodsworth S.J., Durbin R.M., Ellington A.G.,
RA Evans K.L., Fey J.M., Fleming K., French L., Garner A.A.,
RA Gilbert J.G.R., Goward M.E., Grafham D.V., Griffiths M.N.D., Hall C.,
RA Hall R.E., Hall-Tamlyn G., Heathcott R.W., Ho S., Holmes S.,
RA Hunt S.E., Jones M.C., Kershaw J., Kimberley A.M., King A.,
RA Laird G.K., Langford C.F., Leversha M.A., Lloyd C., Lloyd D.M.,
RA Martyn I.D., Mashreghi-Mohammadi M., Matthews L.H., Mccann O.T.,
RA Mcclay J., Mclaren S., McMurray A.A., Milne S.A., Mortimore B.J.,
RA Odell C.N., Pavitt R., Pearce A.V., Pearson D., Phillimore B.J.C.T.,
RA Phillips S.H., Plumb R.W., Ramsay H., Ramsey Y., Rogers L., Ross M.T.,
RA Scott C.E., Sehra H.K., Skuce C.D., Smalley S., Smith M.L.,
RA Soderlund C., Spragon L., Steward C.A., Sulston J.E., Swann R.M.,
RA Vaudin M., Wall M., Wallis J.M., Whiteley M.N., Willey D.L.,
RA Williams L., Williams S.A., Williamson H., Wilmer T.E., Wilming L.,
RA Wright C.L., Hubbard T., Bentley D.R., Beck S., Rogers J., Shimizu N.,
RA Minoshima S., Kawasaki K., Sasaki T., Asakawa S., Kudoh J.,
RA Shintani A., Shibuya K., Yoshizaki Y., Aoki N., Mitsuyama S.,
RA Roe B.A., Chen F., Chu L., Crabtree J., Deschamps S., Do A., Do T.,
RA Dorman A., Fang F., Fu Y., Hu P., Hua A., Kenton S., Lai H., Lao H.I.,
RA Lewis J., Lewis S., Lin S.-P., Loh P., Malaj E., Nguyen T., Pan H.,
RA Phan S., Qi S., Qian Y., Ray L., Ren Q., Shaull S., Sloan D., Song L.,
RA Wang Q., Wang Y., Wang Z., White J., Willingham D., Wu H., Yao Z.,
RA Zhan M., Zhang G., Chissoe S., Murray J., Miller N., Minx P.,
RA Fulton R., Johnson D., Bemis G., Bentley D., Bradshaw H., Bourne S.,
RA Cordes M., Du Z., Fulton L., Goela D., Graves T., Hawkins J.,
RA Hinds K., Kemp K., Latreille P., Layman D., Ozersky P., Rohlfing T.,
RA Scheet P., Walker C., Wamsley A., Wohldmann P., Pepin K., Nelson J.,
RA Korf I., Bedell J.A., Hillier L.W., Mardis E., Waterston R.,
RA Wilson R., Emanuel B.S., Shaikh T., Kurahashi H., Saitta S.,
RA Budarf M.L., McDermid H.E., Johnson A., Wong A.C.C., Morrow B.E.,
RA Edelmann L., Kim U.J., Shizuya H., Simon M.I., Dumanski J.P.,
RA Peyrard M., Kedra D., Seroussi E., Fransson I., Tapia I., Bruder C.E.,
RA O'Brien K.P., Wilkinson P., Bodenteich A., Hartman K., Hu X.,
RA Khan A.S., Lane L., Tilahun Y., Wright H.;
RT "The DNA sequence of human chromosome 22.";
RL Nature 402:489-495(1999).
RN [6]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1B).
RC TISSUE=Brain;
RX PubMed=15489334; DOI=10.1101/gr.2596504;
RG The MGC Project Team;
RT "The status, quality, and expansion of the NIH full-length cDNA
RT project: the Mammalian Gene Collection (MGC).";
RL Genome Res. 14:2121-2127(2004).
RN [7]
RP SUBCELLULAR LOCATION [LARGE SCALE ANALYSIS], AND MASS SPECTROMETRY.
RC TISSUE=Melanoma;
RX PubMed=17081065; DOI=10.1021/pr060363j;
RA Chi A., Valencia J.C., Hu Z.-Z., Watabe H., Yamaguchi H.,
RA Mangini N.J., Huang H., Canfield V.A., Cheng K.C., Yang F., Abe R.,
RA Yamagishi S., Shabanowitz J., Hearing V.J., Wu C., Appella E.,
RA Hunt D.F.;
RT "Proteomic and bioinformatic characterization of the biogenesis and
RT function of melanosomes.";
RL J. Proteome Res. 5:3135-3144(2006).
RN [8]
RP ACETYLATION [LARGE SCALE ANALYSIS] AT MET-1, AND MASS SPECTROMETRY.
RX PubMed=19413330; DOI=10.1021/ac9004309;
RA Gauci S., Helbig A.O., Slijper M., Krijgsveld J., Heck A.J.,
RA Mohammed S.;
RT "Lys-N and trypsin cover complementary parts of the phosphoproteome in
RT a refined SCX-based approach.";
RL Anal. Chem. 81:4493-4501(2009).
RN [9]
RP VARIANTS ASN-202 INS AND GLY-222.
RX PubMed=17049558; DOI=10.1016/j.jpsychires.2006.08.010;
RA Cheng M.C., Chen C.H.;
RT "Identification of rare mutations of synaptogyrin 1 gene in patients
RT with schizophrenia.";
RL J. Psychiatr. Res. 41:1027-1031(2007).
CC -!- FUNCTION: Involved in the regulation of short-term and long-term
CC synaptic plasticity (By similarity).
CC -!- SUBCELLULAR LOCATION: Membrane; Multi-pass membrane protein.
CC Melanosome. Cell junction, synapse. Note=Identified by mass
CC spectrometry in melanosome fractions from stage I to stage IV.
CC -!- ALTERNATIVE PRODUCTS:
CC Event=Alternative splicing; Named isoforms=3;
CC Name=1A;
CC IsoId=O43759-1; Sequence=Displayed;
CC Name=1B;
CC IsoId=O43759-2; Sequence=VSP_006332;
CC Name=1C;
CC IsoId=O43759-3; Sequence=VSP_006331, VSP_006332;
CC -!- SIMILARITY: Belongs to the synaptogyrin family.
CC -!- SIMILARITY: Contains 1 MARVEL domain.
CC -----------------------------------------------------------------------
CC Copyrighted by the UniProt Consortium, see http://www.uniprot.org/terms
CC Distributed under the Creative Commons Attribution-NoDerivs License
CC -----------------------------------------------------------------------
DR EMBL; AJ002303; CAA05320.1; -; mRNA.
DR EMBL; AJ002304; CAA05321.1; -; mRNA.
DR EMBL; AJ002305; CAA05322.1; -; mRNA.
DR EMBL; CR456590; CAG30476.1; -; mRNA.
DR EMBL; BT007135; AAP35799.1; -; mRNA.
DR EMBL; AK289507; BAF82196.1; -; mRNA.
DR EMBL; AL022326; CAA18452.1; -; Genomic_DNA.
DR EMBL; BC000731; AAH00731.1; -; mRNA.
DR RefSeq; NP_004702.2; NM_004711.4.
DR RefSeq; NP_663783.1; NM_145731.3.
DR RefSeq; NP_663791.1; NM_145738.2.
DR UniGene; Hs.216226; -.
DR ProteinModelPortal; O43759; -.
DR IntAct; O43759; 2.
DR STRING; 9606.ENSP00000332287; -.
DR PhosphoSite; O43759; -.
DR PaxDb; O43759; -.
DR PRIDE; O43759; -.
DR DNASU; 9145; -.
DR Ensembl; ENST00000318801; ENSP00000318845; ENSG00000100321.
DR Ensembl; ENST00000328933; ENSP00000332287; ENSG00000100321.
DR Ensembl; ENST00000381535; ENSP00000370946; ENSG00000100321.
DR GeneID; 9145; -.
DR KEGG; hsa:9145; -.
DR UCSC; uc003axq.4; human.
DR CTD; 9145; -.
DR GeneCards; GC22P039745; -.
DR HGNC; HGNC:11498; SYNGR1.
DR HPA; CAB034277; -.
DR HPA; HPA029673; -.
DR MIM; 603925; gene.
DR neXtProt; NX_O43759; -.
DR PharmGKB; PA36280; -.
DR eggNOG; NOG306774; -.
DR HOVERGEN; HBG000896; -.
DR InParanoid; O43759; -.
DR OMA; CISSEGW; -.
DR OrthoDB; EOG7VTDQ1; -.
DR PhylomeDB; O43759; -.
DR ChiTaRS; SYNGR1; human.
DR GeneWiki; SYNGR1; -.
DR GenomeRNAi; 9145; -.
DR NextBio; 34299; -.
DR PRO; PR:O43759; -.
DR ArrayExpress; O43759; -.
DR Bgee; O43759; -.
DR CleanEx; HS_SYNGR1; -.
DR Genevestigator; O43759; -.
DR GO; GO:0030054; C:cell junction; IEA:UniProtKB-KW.
DR GO; GO:0016021; C:integral to membrane; IEA:UniProtKB-KW.
DR GO; GO:0042470; C:melanosome; IEA:UniProtKB-SubCell.
DR GO; GO:0030672; C:synaptic vesicle membrane; IEA:Ensembl.
DR GO; GO:0006605; P:protein targeting; IEA:Ensembl.
DR GO; GO:0048169; P:regulation of long-term neuronal synaptic plasticity; ISS:UniProtKB.
DR GO; GO:0048172; P:regulation of short-term neuronal synaptic plasticity; ISS:UniProtKB.
DR InterPro; IPR008253; Marvel.
DR InterPro; IPR016579; Synaptogyrin.
DR Pfam; PF01284; MARVEL; 1.
DR PIRSF; PIRSF011282; Synaptogyrin; 1.
DR PROSITE; PS51225; MARVEL; 1.
PE 1: Evidence at protein level;
KW Acetylation; Alternative splicing; Cell junction; Complete proteome;
KW Membrane; Polymorphism; Reference proteome; Synapse; Transmembrane;
KW Transmembrane helix.
FT CHAIN 1 233 Synaptogyrin-1.
FT /FTId=PRO_0000183990.
FT TRANSMEM 24 44 Helical; (Potential).
FT TRANSMEM 72 92 Helical; (Potential).
FT TRANSMEM 104 124 Helical; (Potential).
FT TRANSMEM 149 169 Helical; (Potential).
FT DOMAIN 20 173 MARVEL.
FT MOD_RES 1 1 N-acetylmethionine.
FT VAR_SEQ 1 33 MEGGAYGAGKAGGAFDPYTLVRQPHTILRVVSW -> MLTL
FT EFGILEFDPSWIGSWTQRSWVSWRSRPGCE (in
FT isoform 1C).
FT /FTId=VSP_006331.
FT VAR_SEQ 162 233 AGQAVLAFQRYQIGADSALFSQDYMDPSQDSSMPYAPYVEP
FT TGPDPAGMGGTYQQPANTFDTEPQGYQSQGY -> SLTAAL
FT AVRRFKDLSFQEEYSTLFPASAQP (in isoform 1B
FT and isoform 1C).
FT /FTId=VSP_006332.
FT VARIANT 202 202 P -> PN.
FT /FTId=VAR_060489.
FT VARIANT 222 222 D -> G (in a patient affected by
FT schizophrenia).
FT /FTId=VAR_060490.
SQ SEQUENCE 233 AA; 25456 MW; 8DE7000A46960213 CRC64;
MEGGAYGAGK AGGAFDPYTL VRQPHTILRV VSWLFSIVVF GSIVNEGYLN SASEGEEFCI
YNRNPNACSY GVAVGVLAFL TCLLYLALDV YFPQISSVKD RKKAVLSDIG VSAFWAFLWF
VGFCYLANQW QVSKPKDNPL NEGTDAARAA IAFSFFSIFT WAGQAVLAFQ RYQIGADSAL
FSQDYMDPSQ DSSMPYAPYV EPTGPDPAGM GGTYQQPANT FDTEPQGYQS QGY
//
ID SNG1_HUMAN Reviewed; 233 AA.
AC O43759; A6NP69; A8K0E2; O43757; O43758; Q53Y02; Q96J56; Q9UGZ4;
read moreDT 30-MAY-2000, integrated into UniProtKB/Swiss-Prot.
DT 03-OCT-2006, sequence version 2.
DT 22-JAN-2014, entry version 115.
DE RecName: Full=Synaptogyrin-1;
GN Name=SYNGR1;
OS Homo sapiens (Human).
OC Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
OC Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
OC Catarrhini; Hominidae; Homo.
OX NCBI_TaxID=9606;
RN [1]
RP NUCLEOTIDE SEQUENCE [MRNA] (ISOFORMS 1A; 1B AND 1C), AND VARIANT
RP ASN-202 INS.
RX PubMed=9760194; DOI=10.1007/s004390050795;
RA Kedra D., Pan H.-Q., Seroussi E., Fransson I., Guilbaud C.,
RA Collins J.E., Dunham I., Blennow E., Roe B.A., Piehl F.,
RA Dumanski J.P.;
RT "Characterization of the human synaptogyrin gene family.";
RL Hum. Genet. 103:131-141(1998).
RN [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1A), AND VARIANT
RP ASN-202 INS.
RX PubMed=15461802; DOI=10.1186/gb-2004-5-10-r84;
RA Collins J.E., Wright C.L., Edwards C.A., Davis M.P., Grinham J.A.,
RA Cole C.G., Goward M.E., Aguado B., Mallya M., Mokrab Y., Huckle E.J.,
RA Beare D.M., Dunham I.;
RT "A genome annotation-driven approach to cloning the human ORFeome.";
RL Genome Biol. 5:R84.1-R84.11(2004).
RN [3]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1B).
RA Kalnine N., Chen X., Rolfs A., Halleck A., Hines L., Eisenstein S.,
RA Koundinya M., Raphael J., Moreira D., Kelley T., LaBaer J., Lin Y.,
RA Phelan M., Farmer A.;
RT "Cloning of human full-length CDSs in BD Creator(TM) system donor
RT vector.";
RL Submitted (MAY-2003) to the EMBL/GenBank/DDBJ databases.
RN [4]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1A), AND VARIANT
RP ASN-202 INS.
RC TISSUE=Cerebellum;
RX PubMed=14702039; DOI=10.1038/ng1285;
RA Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R.,
RA Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H.,
RA Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S.,
RA Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K.,
RA Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A.,
RA Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M.,
RA Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y.,
RA Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M.,
RA Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K.,
RA Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S.,
RA Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J.,
RA Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y.,
RA Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N.,
RA Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S.,
RA Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S.,
RA Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O.,
RA Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H.,
RA Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B.,
RA Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y.,
RA Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T.,
RA Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y.,
RA Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S.,
RA Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T.,
RA Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M.,
RA Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T.,
RA Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K.,
RA Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R.,
RA Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S.;
RT "Complete sequencing and characterization of 21,243 full-length human
RT cDNAs.";
RL Nat. Genet. 36:40-45(2004).
RN [5]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RX PubMed=10591208; DOI=10.1038/990031;
RA Dunham I., Hunt A.R., Collins J.E., Bruskiewich R., Beare D.M.,
RA Clamp M., Smink L.J., Ainscough R., Almeida J.P., Babbage A.K.,
RA Bagguley C., Bailey J., Barlow K.F., Bates K.N., Beasley O.P.,
RA Bird C.P., Blakey S.E., Bridgeman A.M., Buck D., Burgess J.,
RA Burrill W.D., Burton J., Carder C., Carter N.P., Chen Y., Clark G.,
RA Clegg S.M., Cobley V.E., Cole C.G., Collier R.E., Connor R.,
RA Conroy D., Corby N.R., Coville G.J., Cox A.V., Davis J., Dawson E.,
RA Dhami P.D., Dockree C., Dodsworth S.J., Durbin R.M., Ellington A.G.,
RA Evans K.L., Fey J.M., Fleming K., French L., Garner A.A.,
RA Gilbert J.G.R., Goward M.E., Grafham D.V., Griffiths M.N.D., Hall C.,
RA Hall R.E., Hall-Tamlyn G., Heathcott R.W., Ho S., Holmes S.,
RA Hunt S.E., Jones M.C., Kershaw J., Kimberley A.M., King A.,
RA Laird G.K., Langford C.F., Leversha M.A., Lloyd C., Lloyd D.M.,
RA Martyn I.D., Mashreghi-Mohammadi M., Matthews L.H., Mccann O.T.,
RA Mcclay J., Mclaren S., McMurray A.A., Milne S.A., Mortimore B.J.,
RA Odell C.N., Pavitt R., Pearce A.V., Pearson D., Phillimore B.J.C.T.,
RA Phillips S.H., Plumb R.W., Ramsay H., Ramsey Y., Rogers L., Ross M.T.,
RA Scott C.E., Sehra H.K., Skuce C.D., Smalley S., Smith M.L.,
RA Soderlund C., Spragon L., Steward C.A., Sulston J.E., Swann R.M.,
RA Vaudin M., Wall M., Wallis J.M., Whiteley M.N., Willey D.L.,
RA Williams L., Williams S.A., Williamson H., Wilmer T.E., Wilming L.,
RA Wright C.L., Hubbard T., Bentley D.R., Beck S., Rogers J., Shimizu N.,
RA Minoshima S., Kawasaki K., Sasaki T., Asakawa S., Kudoh J.,
RA Shintani A., Shibuya K., Yoshizaki Y., Aoki N., Mitsuyama S.,
RA Roe B.A., Chen F., Chu L., Crabtree J., Deschamps S., Do A., Do T.,
RA Dorman A., Fang F., Fu Y., Hu P., Hua A., Kenton S., Lai H., Lao H.I.,
RA Lewis J., Lewis S., Lin S.-P., Loh P., Malaj E., Nguyen T., Pan H.,
RA Phan S., Qi S., Qian Y., Ray L., Ren Q., Shaull S., Sloan D., Song L.,
RA Wang Q., Wang Y., Wang Z., White J., Willingham D., Wu H., Yao Z.,
RA Zhan M., Zhang G., Chissoe S., Murray J., Miller N., Minx P.,
RA Fulton R., Johnson D., Bemis G., Bentley D., Bradshaw H., Bourne S.,
RA Cordes M., Du Z., Fulton L., Goela D., Graves T., Hawkins J.,
RA Hinds K., Kemp K., Latreille P., Layman D., Ozersky P., Rohlfing T.,
RA Scheet P., Walker C., Wamsley A., Wohldmann P., Pepin K., Nelson J.,
RA Korf I., Bedell J.A., Hillier L.W., Mardis E., Waterston R.,
RA Wilson R., Emanuel B.S., Shaikh T., Kurahashi H., Saitta S.,
RA Budarf M.L., McDermid H.E., Johnson A., Wong A.C.C., Morrow B.E.,
RA Edelmann L., Kim U.J., Shizuya H., Simon M.I., Dumanski J.P.,
RA Peyrard M., Kedra D., Seroussi E., Fransson I., Tapia I., Bruder C.E.,
RA O'Brien K.P., Wilkinson P., Bodenteich A., Hartman K., Hu X.,
RA Khan A.S., Lane L., Tilahun Y., Wright H.;
RT "The DNA sequence of human chromosome 22.";
RL Nature 402:489-495(1999).
RN [6]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1B).
RC TISSUE=Brain;
RX PubMed=15489334; DOI=10.1101/gr.2596504;
RG The MGC Project Team;
RT "The status, quality, and expansion of the NIH full-length cDNA
RT project: the Mammalian Gene Collection (MGC).";
RL Genome Res. 14:2121-2127(2004).
RN [7]
RP SUBCELLULAR LOCATION [LARGE SCALE ANALYSIS], AND MASS SPECTROMETRY.
RC TISSUE=Melanoma;
RX PubMed=17081065; DOI=10.1021/pr060363j;
RA Chi A., Valencia J.C., Hu Z.-Z., Watabe H., Yamaguchi H.,
RA Mangini N.J., Huang H., Canfield V.A., Cheng K.C., Yang F., Abe R.,
RA Yamagishi S., Shabanowitz J., Hearing V.J., Wu C., Appella E.,
RA Hunt D.F.;
RT "Proteomic and bioinformatic characterization of the biogenesis and
RT function of melanosomes.";
RL J. Proteome Res. 5:3135-3144(2006).
RN [8]
RP ACETYLATION [LARGE SCALE ANALYSIS] AT MET-1, AND MASS SPECTROMETRY.
RX PubMed=19413330; DOI=10.1021/ac9004309;
RA Gauci S., Helbig A.O., Slijper M., Krijgsveld J., Heck A.J.,
RA Mohammed S.;
RT "Lys-N and trypsin cover complementary parts of the phosphoproteome in
RT a refined SCX-based approach.";
RL Anal. Chem. 81:4493-4501(2009).
RN [9]
RP VARIANTS ASN-202 INS AND GLY-222.
RX PubMed=17049558; DOI=10.1016/j.jpsychires.2006.08.010;
RA Cheng M.C., Chen C.H.;
RT "Identification of rare mutations of synaptogyrin 1 gene in patients
RT with schizophrenia.";
RL J. Psychiatr. Res. 41:1027-1031(2007).
CC -!- FUNCTION: Involved in the regulation of short-term and long-term
CC synaptic plasticity (By similarity).
CC -!- SUBCELLULAR LOCATION: Membrane; Multi-pass membrane protein.
CC Melanosome. Cell junction, synapse. Note=Identified by mass
CC spectrometry in melanosome fractions from stage I to stage IV.
CC -!- ALTERNATIVE PRODUCTS:
CC Event=Alternative splicing; Named isoforms=3;
CC Name=1A;
CC IsoId=O43759-1; Sequence=Displayed;
CC Name=1B;
CC IsoId=O43759-2; Sequence=VSP_006332;
CC Name=1C;
CC IsoId=O43759-3; Sequence=VSP_006331, VSP_006332;
CC -!- SIMILARITY: Belongs to the synaptogyrin family.
CC -!- SIMILARITY: Contains 1 MARVEL domain.
CC -----------------------------------------------------------------------
CC Copyrighted by the UniProt Consortium, see http://www.uniprot.org/terms
CC Distributed under the Creative Commons Attribution-NoDerivs License
CC -----------------------------------------------------------------------
DR EMBL; AJ002303; CAA05320.1; -; mRNA.
DR EMBL; AJ002304; CAA05321.1; -; mRNA.
DR EMBL; AJ002305; CAA05322.1; -; mRNA.
DR EMBL; CR456590; CAG30476.1; -; mRNA.
DR EMBL; BT007135; AAP35799.1; -; mRNA.
DR EMBL; AK289507; BAF82196.1; -; mRNA.
DR EMBL; AL022326; CAA18452.1; -; Genomic_DNA.
DR EMBL; BC000731; AAH00731.1; -; mRNA.
DR RefSeq; NP_004702.2; NM_004711.4.
DR RefSeq; NP_663783.1; NM_145731.3.
DR RefSeq; NP_663791.1; NM_145738.2.
DR UniGene; Hs.216226; -.
DR ProteinModelPortal; O43759; -.
DR IntAct; O43759; 2.
DR STRING; 9606.ENSP00000332287; -.
DR PhosphoSite; O43759; -.
DR PaxDb; O43759; -.
DR PRIDE; O43759; -.
DR DNASU; 9145; -.
DR Ensembl; ENST00000318801; ENSP00000318845; ENSG00000100321.
DR Ensembl; ENST00000328933; ENSP00000332287; ENSG00000100321.
DR Ensembl; ENST00000381535; ENSP00000370946; ENSG00000100321.
DR GeneID; 9145; -.
DR KEGG; hsa:9145; -.
DR UCSC; uc003axq.4; human.
DR CTD; 9145; -.
DR GeneCards; GC22P039745; -.
DR HGNC; HGNC:11498; SYNGR1.
DR HPA; CAB034277; -.
DR HPA; HPA029673; -.
DR MIM; 603925; gene.
DR neXtProt; NX_O43759; -.
DR PharmGKB; PA36280; -.
DR eggNOG; NOG306774; -.
DR HOVERGEN; HBG000896; -.
DR InParanoid; O43759; -.
DR OMA; CISSEGW; -.
DR OrthoDB; EOG7VTDQ1; -.
DR PhylomeDB; O43759; -.
DR ChiTaRS; SYNGR1; human.
DR GeneWiki; SYNGR1; -.
DR GenomeRNAi; 9145; -.
DR NextBio; 34299; -.
DR PRO; PR:O43759; -.
DR ArrayExpress; O43759; -.
DR Bgee; O43759; -.
DR CleanEx; HS_SYNGR1; -.
DR Genevestigator; O43759; -.
DR GO; GO:0030054; C:cell junction; IEA:UniProtKB-KW.
DR GO; GO:0016021; C:integral to membrane; IEA:UniProtKB-KW.
DR GO; GO:0042470; C:melanosome; IEA:UniProtKB-SubCell.
DR GO; GO:0030672; C:synaptic vesicle membrane; IEA:Ensembl.
DR GO; GO:0006605; P:protein targeting; IEA:Ensembl.
DR GO; GO:0048169; P:regulation of long-term neuronal synaptic plasticity; ISS:UniProtKB.
DR GO; GO:0048172; P:regulation of short-term neuronal synaptic plasticity; ISS:UniProtKB.
DR InterPro; IPR008253; Marvel.
DR InterPro; IPR016579; Synaptogyrin.
DR Pfam; PF01284; MARVEL; 1.
DR PIRSF; PIRSF011282; Synaptogyrin; 1.
DR PROSITE; PS51225; MARVEL; 1.
PE 1: Evidence at protein level;
KW Acetylation; Alternative splicing; Cell junction; Complete proteome;
KW Membrane; Polymorphism; Reference proteome; Synapse; Transmembrane;
KW Transmembrane helix.
FT CHAIN 1 233 Synaptogyrin-1.
FT /FTId=PRO_0000183990.
FT TRANSMEM 24 44 Helical; (Potential).
FT TRANSMEM 72 92 Helical; (Potential).
FT TRANSMEM 104 124 Helical; (Potential).
FT TRANSMEM 149 169 Helical; (Potential).
FT DOMAIN 20 173 MARVEL.
FT MOD_RES 1 1 N-acetylmethionine.
FT VAR_SEQ 1 33 MEGGAYGAGKAGGAFDPYTLVRQPHTILRVVSW -> MLTL
FT EFGILEFDPSWIGSWTQRSWVSWRSRPGCE (in
FT isoform 1C).
FT /FTId=VSP_006331.
FT VAR_SEQ 162 233 AGQAVLAFQRYQIGADSALFSQDYMDPSQDSSMPYAPYVEP
FT TGPDPAGMGGTYQQPANTFDTEPQGYQSQGY -> SLTAAL
FT AVRRFKDLSFQEEYSTLFPASAQP (in isoform 1B
FT and isoform 1C).
FT /FTId=VSP_006332.
FT VARIANT 202 202 P -> PN.
FT /FTId=VAR_060489.
FT VARIANT 222 222 D -> G (in a patient affected by
FT schizophrenia).
FT /FTId=VAR_060490.
SQ SEQUENCE 233 AA; 25456 MW; 8DE7000A46960213 CRC64;
MEGGAYGAGK AGGAFDPYTL VRQPHTILRV VSWLFSIVVF GSIVNEGYLN SASEGEEFCI
YNRNPNACSY GVAVGVLAFL TCLLYLALDV YFPQISSVKD RKKAVLSDIG VSAFWAFLWF
VGFCYLANQW QVSKPKDNPL NEGTDAARAA IAFSFFSIFT WAGQAVLAFQ RYQIGADSAL
FSQDYMDPSQ DSSMPYAPYV EPTGPDPAGM GGTYQQPANT FDTEPQGYQS QGY
//
MIM
603925
*RECORD*
*FIELD* NO
603925
*FIELD* TI
*603925 SYNAPTOGYRIN 1; SYNGR1
*FIELD* TX
CLONING
Rat synaptogyrin, or RATSYNGR1, is an integral membrane protein
read moreassociated with presynaptic vesicles in neuronal cells. See SYNGR2
(603926). As part of an effort to sequence the long arm of human
chromosome 22, Kedra et al. (1998) identified the human homolog of
RATSYNGR1, synaptogyrin-1 (SYNGR1). By a combination of EST database
searching and library screening, the authors isolated cDNAs
corresponding to 3 alternatively spliced transcripts, which they
designated SYNGR1a-c. The predicted 1a, 1b, and 1c proteins contain 234,
191, and 192 amino acids, respectively. Northern blot analysis revealed
that the 4.5-kb SYNGR1a mRNA is expressed at high levels in brain. The
other transcript forms are expressed at low levels in nonneuronal
tissues. In situ hybridization to embryonic and adult mouse tissues
confirmed that SYNGR1a, the most abundant transcript form, shows
predominantly neuronal expression. Kedra et al. (1998) also identified
cDNAs encoding the related human proteins SYNGR2 and SYNGR3 (603927) and
mouse Syngr1b. Like RATSYNGR1, the mouse and human synaptogyrin family
members contain 4 membrane-spanning domains. The conserved central
portion of SYNGR1a shares 54%, 61%, and 92% identity with that of
SYNGR2, SYNGR3, and RATSYNGR1, respectively.
GENE STRUCTURE
Kedra et al. (1998) determined that the SYNGR1 gene contains 6 exons.
MAPPING
By inclusion within mapped clones, Kedra et al. (1998) mapped the SYNGR1
gene to chromosome 22q13. These authors found that SYNGR2 is located on
17qter and noted that the synaptogyrins and several other gene families
contain paralogous genes located on chromosomes 17 and 22. They stated
that this result supports the hypothesis that 17q and 22q are
evolutionarily closely related, and that these 2 regions in the human
genome are the result of a large chromosome duplication.
ANIMAL MODEL
Using gene targeting, Janz et al. (1999) generated mice lacking Syngr1.
They bred these Syngr1 knockout mice against Syp (313475) knockout mice
generated by McMahon et al. (1996) to create double knockout mice
deficient in both Syp and Syngr1. Both single and double knockout mice
were viable and fertile. Morphologic and biochemical analysis showed
that the architecture and composition of synapses were unaltered in the
brains of Syngr1 single knockout and Syngr1/Syp double knockout mutant
mice. Electrophysiologic recordings in the hippocampal CA1 region
revealed that short- and long-term synaptic plasticity was severely
reduced in the Syngr1/Syp double knockout mice without changes in the
fundamental release apparatus, vesicle cycling, or release probability.
Janz et al. (1999) concluded that Syngr1 and Syp perform essential and
redundant functions in synaptic plasticity without being required for
synaptic transmission as such.
From the results of cotransfection experiments, Janz et al. (1999)
concluded that Syp and Syngr1 are phosphorylated by c-fyn and c-src
tyrosine kinases. The absence of Syp and Syngr1 in knockout mice did not
markedly affect tyrosine phosphorylation of other proteins.
*FIELD* RF
1. Janz, R.; Sudhof, T. C.; Hammer, R. E.; Unni, V.; Siegelbaum, S.
A.; Bolshakov, V. Y.: Essential roles in synaptic plasticity for
synaptogyrin I and synaptophysin I. Neuron 24: 687-700, 1999.
2. Kedra, D.; Pan, H.-Q.; Seroussi, E.; Fransson, I.; Guilbaud, C.;
Collins, J. E.; Dunham, I.; Blennow, E.; Roe, B. A.; Piehl, F.; Dumanski,
J. P.: Characterization of the human synaptogyrin gene family. Hum.
Genet. 103: 131-141, 1998.
3. McMahon, H. T.; Bolshakov, V. Y.; Janz, R.; Hammer, R. E.; Siegelbaum,
S. A.; Sudhof, T. C.: Synaptophysin, a major synaptic vesicle protein,
is not essential for neurotransmitter release. Proc. Nat. Acad. Sci. 93:
4760-4764, 1996.
*FIELD* CN
Dawn Watkins-Chow - updated: 11/28/2001
*FIELD* CD
Rebekah S. Rasooly: 6/18/1999
*FIELD* ED
carol: 11/28/2001
jlewis: 6/22/1999
*RECORD*
*FIELD* NO
603925
*FIELD* TI
*603925 SYNAPTOGYRIN 1; SYNGR1
*FIELD* TX
CLONING
Rat synaptogyrin, or RATSYNGR1, is an integral membrane protein
read moreassociated with presynaptic vesicles in neuronal cells. See SYNGR2
(603926). As part of an effort to sequence the long arm of human
chromosome 22, Kedra et al. (1998) identified the human homolog of
RATSYNGR1, synaptogyrin-1 (SYNGR1). By a combination of EST database
searching and library screening, the authors isolated cDNAs
corresponding to 3 alternatively spliced transcripts, which they
designated SYNGR1a-c. The predicted 1a, 1b, and 1c proteins contain 234,
191, and 192 amino acids, respectively. Northern blot analysis revealed
that the 4.5-kb SYNGR1a mRNA is expressed at high levels in brain. The
other transcript forms are expressed at low levels in nonneuronal
tissues. In situ hybridization to embryonic and adult mouse tissues
confirmed that SYNGR1a, the most abundant transcript form, shows
predominantly neuronal expression. Kedra et al. (1998) also identified
cDNAs encoding the related human proteins SYNGR2 and SYNGR3 (603927) and
mouse Syngr1b. Like RATSYNGR1, the mouse and human synaptogyrin family
members contain 4 membrane-spanning domains. The conserved central
portion of SYNGR1a shares 54%, 61%, and 92% identity with that of
SYNGR2, SYNGR3, and RATSYNGR1, respectively.
GENE STRUCTURE
Kedra et al. (1998) determined that the SYNGR1 gene contains 6 exons.
MAPPING
By inclusion within mapped clones, Kedra et al. (1998) mapped the SYNGR1
gene to chromosome 22q13. These authors found that SYNGR2 is located on
17qter and noted that the synaptogyrins and several other gene families
contain paralogous genes located on chromosomes 17 and 22. They stated
that this result supports the hypothesis that 17q and 22q are
evolutionarily closely related, and that these 2 regions in the human
genome are the result of a large chromosome duplication.
ANIMAL MODEL
Using gene targeting, Janz et al. (1999) generated mice lacking Syngr1.
They bred these Syngr1 knockout mice against Syp (313475) knockout mice
generated by McMahon et al. (1996) to create double knockout mice
deficient in both Syp and Syngr1. Both single and double knockout mice
were viable and fertile. Morphologic and biochemical analysis showed
that the architecture and composition of synapses were unaltered in the
brains of Syngr1 single knockout and Syngr1/Syp double knockout mutant
mice. Electrophysiologic recordings in the hippocampal CA1 region
revealed that short- and long-term synaptic plasticity was severely
reduced in the Syngr1/Syp double knockout mice without changes in the
fundamental release apparatus, vesicle cycling, or release probability.
Janz et al. (1999) concluded that Syngr1 and Syp perform essential and
redundant functions in synaptic plasticity without being required for
synaptic transmission as such.
From the results of cotransfection experiments, Janz et al. (1999)
concluded that Syp and Syngr1 are phosphorylated by c-fyn and c-src
tyrosine kinases. The absence of Syp and Syngr1 in knockout mice did not
markedly affect tyrosine phosphorylation of other proteins.
*FIELD* RF
1. Janz, R.; Sudhof, T. C.; Hammer, R. E.; Unni, V.; Siegelbaum, S.
A.; Bolshakov, V. Y.: Essential roles in synaptic plasticity for
synaptogyrin I and synaptophysin I. Neuron 24: 687-700, 1999.
2. Kedra, D.; Pan, H.-Q.; Seroussi, E.; Fransson, I.; Guilbaud, C.;
Collins, J. E.; Dunham, I.; Blennow, E.; Roe, B. A.; Piehl, F.; Dumanski,
J. P.: Characterization of the human synaptogyrin gene family. Hum.
Genet. 103: 131-141, 1998.
3. McMahon, H. T.; Bolshakov, V. Y.; Janz, R.; Hammer, R. E.; Siegelbaum,
S. A.; Sudhof, T. C.: Synaptophysin, a major synaptic vesicle protein,
is not essential for neurotransmitter release. Proc. Nat. Acad. Sci. 93:
4760-4764, 1996.
*FIELD* CN
Dawn Watkins-Chow - updated: 11/28/2001
*FIELD* CD
Rebekah S. Rasooly: 6/18/1999
*FIELD* ED
carol: 11/28/2001
jlewis: 6/22/1999