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O43759

- SNG1_HUMAN

UniProt

O43759 - SNG1_HUMAN

Protein

Synaptogyrin-1

Gene

SYNGR1

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 4 out of 5- Experimental evidence at protein leveli
    • BLAST
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    • History
      Entry version 120 (01 Oct 2014)
      Sequence version 2 (03 Oct 2006)
      Previous versions | rss
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    Functioni

    Involved in the regulation of short-term and long-term synaptic plasticity.By similarity

    GO - Biological processi

    1. protein targeting Source: Ensembl
    2. regulation of long-term neuronal synaptic plasticity Source: UniProtKB
    3. regulation of short-term neuronal synaptic plasticity Source: UniProtKB

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    Synaptogyrin-1
    Gene namesi
    Name:SYNGR1
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 22

    Organism-specific databases

    HGNCiHGNC:11498. SYNGR1.

    Subcellular locationi

    Membrane 1 Publication; Multi-pass membrane protein 1 Publication. Melanosome 1 Publication. Cell junctionsynapse 1 Publication
    Note: Identified by mass spectrometry in melanosome fractions from stage I to stage IV.

    GO - Cellular componenti

    1. cell junction Source: UniProtKB-KW
    2. integral component of membrane Source: UniProtKB-KW
    3. melanosome Source: UniProtKB-SubCell
    4. synaptic vesicle membrane Source: Ensembl

    Keywords - Cellular componenti

    Cell junction, Membrane, Synapse

    Pathology & Biotechi

    Organism-specific databases

    PharmGKBiPA36280.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Chaini1 – 233233Synaptogyrin-1PRO_0000183990Add
    BLAST

    Amino acid modifications

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Modified residuei1 – 11N-acetylmethionine1 Publication

    Keywords - PTMi

    Acetylation

    Proteomic databases

    MaxQBiO43759.
    PaxDbiO43759.
    PRIDEiO43759.

    PTM databases

    PhosphoSiteiO43759.

    Expressioni

    Gene expression databases

    ArrayExpressiO43759.
    BgeeiO43759.
    CleanExiHS_SYNGR1.
    GenevestigatoriO43759.

    Organism-specific databases

    HPAiCAB034277.
    HPA029673.

    Interactioni

    Protein-protein interaction databases

    BioGridi114592. 1 interaction.
    IntActiO43759. 2 interactions.
    STRINGi9606.ENSP00000332287.

    Structurei

    3D structure databases

    ProteinModelPortaliO43759.
    ModBaseiSearch...
    MobiDBiSearch...

    Transmembrane

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Transmembranei24 – 4421HelicalSequence AnalysisAdd
    BLAST
    Transmembranei72 – 9221HelicalSequence AnalysisAdd
    BLAST
    Transmembranei104 – 12421HelicalSequence AnalysisAdd
    BLAST
    Transmembranei149 – 16921HelicalSequence AnalysisAdd
    BLAST

    Family & Domainsi

    Domains and Repeats

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Domaini20 – 173154MARVELPROSITE-ProRule annotationAdd
    BLAST

    Sequence similaritiesi

    Belongs to the synaptogyrin family.Curated
    Contains 1 MARVEL domain.PROSITE-ProRule annotation

    Keywords - Domaini

    Transmembrane, Transmembrane helix

    Phylogenomic databases

    eggNOGiNOG306774.
    HOVERGENiHBG000896.
    InParanoidiO43759.
    OMAiCISSEGW.
    OrthoDBiEOG7VTDQ1.
    PhylomeDBiO43759.
    TreeFamiTF320995.

    Family and domain databases

    InterProiIPR008253. Marvel.
    IPR016579. Synaptogyrin.
    [Graphical view]
    PfamiPF01284. MARVEL. 1 hit.
    [Graphical view]
    PIRSFiPIRSF011282. Synaptogyrin. 1 hit.
    PROSITEiPS51225. MARVEL. 1 hit.
    [Graphical view]

    Sequences (3)i

    Sequence statusi: Complete.

    This entry describes 3 isoformsi produced by alternative splicing. Align

    Isoform 1A (identifier: O43759-1) [UniParc]FASTAAdd to Basket

    This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

    « Hide

    MEGGAYGAGK AGGAFDPYTL VRQPHTILRV VSWLFSIVVF GSIVNEGYLN    50
    SASEGEEFCI YNRNPNACSY GVAVGVLAFL TCLLYLALDV YFPQISSVKD 100
    RKKAVLSDIG VSAFWAFLWF VGFCYLANQW QVSKPKDNPL NEGTDAARAA 150
    IAFSFFSIFT WAGQAVLAFQ RYQIGADSAL FSQDYMDPSQ DSSMPYAPYV 200
    EPTGPDPAGM GGTYQQPANT FDTEPQGYQS QGY 233
    Length:233
    Mass (Da):25,456
    Last modified:October 3, 2006 - v2
    Checksum:i8DE7000A46960213
    GO
    Isoform 1B (identifier: O43759-2) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         162-233: AGQAVLAFQR...EPQGYQSQGY → SLTAALAVRRFKDLSFQEEYSTLFPASAQP

    Show »
    Length:191
    Mass (Da):21,038
    Checksum:iB620694C3DAEF56C
    GO
    Isoform 1C (identifier: O43759-3) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         1-33: MEGGAYGAGKAGGAFDPYTLVRQPHTILRVVSW → MLTLEFGILEFDPSWIGSWTQRSWVSWRSRPGCE
         162-233: AGQAVLAFQR...EPQGYQSQGY → SLTAALAVRRFKDLSFQEEYSTLFPASAQP

    Show »
    Length:192
    Mass (Da):21,591
    Checksum:i2C42A04B3D8DDAA6
    GO

    Natural variant

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti202 – 2021P → PN.4 Publications
    VAR_060489
    Natural varianti222 – 2221D → G in a patient affected by schizophrenia. 1 Publication
    VAR_060490

    Alternative sequence

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Alternative sequencei1 – 3333MEGGA…RVVSW → MLTLEFGILEFDPSWIGSWT QRSWVSWRSRPGCE in isoform 1C. 1 PublicationVSP_006331Add
    BLAST
    Alternative sequencei162 – 23372AGQAV…QSQGY → SLTAALAVRRFKDLSFQEEY STLFPASAQP in isoform 1B and isoform 1C. 3 PublicationsVSP_006332Add
    BLAST

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AJ002303 mRNA. Translation: CAA05320.1.
    AJ002304 mRNA. Translation: CAA05321.1.
    AJ002305 mRNA. Translation: CAA05322.1.
    CR456590 mRNA. Translation: CAG30476.1.
    BT007135 mRNA. Translation: AAP35799.1.
    AK289507 mRNA. Translation: BAF82196.1.
    AL022326 Genomic DNA. Translation: CAA18452.1.
    BC000731 mRNA. Translation: AAH00731.1.
    CCDSiCCDS13989.1. [O43759-1]
    CCDS13990.1. [O43759-2]
    CCDS13991.1. [O43759-3]
    RefSeqiNP_004702.2. NM_004711.4. [O43759-1]
    NP_663783.1. NM_145731.3. [O43759-2]
    NP_663791.1. NM_145738.2. [O43759-3]
    UniGeneiHs.216226.

    Genome annotation databases

    EnsembliENST00000318801; ENSP00000318845; ENSG00000100321. [O43759-2]
    ENST00000328933; ENSP00000332287; ENSG00000100321. [O43759-1]
    ENST00000381535; ENSP00000370946; ENSG00000100321. [O43759-3]
    GeneIDi9145.
    KEGGihsa:9145.
    UCSCiuc003axo.4. human. [O43759-2]
    uc003axq.4. human. [O43759-1]
    uc003axs.4. human. [O43759-3]

    Keywords - Coding sequence diversityi

    Alternative splicing, Polymorphism

    Cross-referencesi

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AJ002303 mRNA. Translation: CAA05320.1 .
    AJ002304 mRNA. Translation: CAA05321.1 .
    AJ002305 mRNA. Translation: CAA05322.1 .
    CR456590 mRNA. Translation: CAG30476.1 .
    BT007135 mRNA. Translation: AAP35799.1 .
    AK289507 mRNA. Translation: BAF82196.1 .
    AL022326 Genomic DNA. Translation: CAA18452.1 .
    BC000731 mRNA. Translation: AAH00731.1 .
    CCDSi CCDS13989.1. [O43759-1 ]
    CCDS13990.1. [O43759-2 ]
    CCDS13991.1. [O43759-3 ]
    RefSeqi NP_004702.2. NM_004711.4. [O43759-1 ]
    NP_663783.1. NM_145731.3. [O43759-2 ]
    NP_663791.1. NM_145738.2. [O43759-3 ]
    UniGenei Hs.216226.

    3D structure databases

    ProteinModelPortali O43759.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    BioGridi 114592. 1 interaction.
    IntActi O43759. 2 interactions.
    STRINGi 9606.ENSP00000332287.

    PTM databases

    PhosphoSitei O43759.

    Proteomic databases

    MaxQBi O43759.
    PaxDbi O43759.
    PRIDEi O43759.

    Protocols and materials databases

    DNASUi 9145.
    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000318801 ; ENSP00000318845 ; ENSG00000100321 . [O43759-2 ]
    ENST00000328933 ; ENSP00000332287 ; ENSG00000100321 . [O43759-1 ]
    ENST00000381535 ; ENSP00000370946 ; ENSG00000100321 . [O43759-3 ]
    GeneIDi 9145.
    KEGGi hsa:9145.
    UCSCi uc003axo.4. human. [O43759-2 ]
    uc003axq.4. human. [O43759-1 ]
    uc003axs.4. human. [O43759-3 ]

    Organism-specific databases

    CTDi 9145.
    GeneCardsi GC22P039745.
    HGNCi HGNC:11498. SYNGR1.
    HPAi CAB034277.
    HPA029673.
    MIMi 603925. gene.
    neXtProti NX_O43759.
    PharmGKBi PA36280.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi NOG306774.
    HOVERGENi HBG000896.
    InParanoidi O43759.
    OMAi CISSEGW.
    OrthoDBi EOG7VTDQ1.
    PhylomeDBi O43759.
    TreeFami TF320995.

    Miscellaneous databases

    ChiTaRSi SYNGR1. human.
    GeneWikii SYNGR1.
    GenomeRNAii 9145.
    NextBioi 34299.
    PROi O43759.
    SOURCEi Search...

    Gene expression databases

    ArrayExpressi O43759.
    Bgeei O43759.
    CleanExi HS_SYNGR1.
    Genevestigatori O43759.

    Family and domain databases

    InterProi IPR008253. Marvel.
    IPR016579. Synaptogyrin.
    [Graphical view ]
    Pfami PF01284. MARVEL. 1 hit.
    [Graphical view ]
    PIRSFi PIRSF011282. Synaptogyrin. 1 hit.
    PROSITEi PS51225. MARVEL. 1 hit.
    [Graphical view ]
    ProtoNeti Search...

    Publicationsi

    1. Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORMS 1A; 1B AND 1C), VARIANT ASN-202 INS.
    2. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1A), VARIANT ASN-202 INS.
    3. "Cloning of human full-length CDSs in BD Creator(TM) system donor vector."
      Kalnine N., Chen X., Rolfs A., Halleck A., Hines L., Eisenstein S., Koundinya M., Raphael J., Moreira D., Kelley T., LaBaer J., Lin Y., Phelan M., Farmer A.
      Submitted (MAY-2003) to the EMBL/GenBank/DDBJ databases
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1B).
    4. "Complete sequencing and characterization of 21,243 full-length human cDNAs."
      Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S.
      , Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K., Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S., Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O., Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H., Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B., Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S.
      Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1A), VARIANT ASN-202 INS.
      Tissue: Cerebellum.
    5. "The DNA sequence of human chromosome 22."
      Dunham I., Hunt A.R., Collins J.E., Bruskiewich R., Beare D.M., Clamp M., Smink L.J., Ainscough R., Almeida J.P., Babbage A.K., Bagguley C., Bailey J., Barlow K.F., Bates K.N., Beasley O.P., Bird C.P., Blakey S.E., Bridgeman A.M.
      , Buck D., Burgess J., Burrill W.D., Burton J., Carder C., Carter N.P., Chen Y., Clark G., Clegg S.M., Cobley V.E., Cole C.G., Collier R.E., Connor R., Conroy D., Corby N.R., Coville G.J., Cox A.V., Davis J., Dawson E., Dhami P.D., Dockree C., Dodsworth S.J., Durbin R.M., Ellington A.G., Evans K.L., Fey J.M., Fleming K., French L., Garner A.A., Gilbert J.G.R., Goward M.E., Grafham D.V., Griffiths M.N.D., Hall C., Hall R.E., Hall-Tamlyn G., Heathcott R.W., Ho S., Holmes S., Hunt S.E., Jones M.C., Kershaw J., Kimberley A.M., King A., Laird G.K., Langford C.F., Leversha M.A., Lloyd C., Lloyd D.M., Martyn I.D., Mashreghi-Mohammadi M., Matthews L.H., Mccann O.T., Mcclay J., Mclaren S., McMurray A.A., Milne S.A., Mortimore B.J., Odell C.N., Pavitt R., Pearce A.V., Pearson D., Phillimore B.J.C.T., Phillips S.H., Plumb R.W., Ramsay H., Ramsey Y., Rogers L., Ross M.T., Scott C.E., Sehra H.K., Skuce C.D., Smalley S., Smith M.L., Soderlund C., Spragon L., Steward C.A., Sulston J.E., Swann R.M., Vaudin M., Wall M., Wallis J.M., Whiteley M.N., Willey D.L., Williams L., Williams S.A., Williamson H., Wilmer T.E., Wilming L., Wright C.L., Hubbard T., Bentley D.R., Beck S., Rogers J., Shimizu N., Minoshima S., Kawasaki K., Sasaki T., Asakawa S., Kudoh J., Shintani A., Shibuya K., Yoshizaki Y., Aoki N., Mitsuyama S., Roe B.A., Chen F., Chu L., Crabtree J., Deschamps S., Do A., Do T., Dorman A., Fang F., Fu Y., Hu P., Hua A., Kenton S., Lai H., Lao H.I., Lewis J., Lewis S., Lin S.-P., Loh P., Malaj E., Nguyen T., Pan H., Phan S., Qi S., Qian Y., Ray L., Ren Q., Shaull S., Sloan D., Song L., Wang Q., Wang Y., Wang Z., White J., Willingham D., Wu H., Yao Z., Zhan M., Zhang G., Chissoe S., Murray J., Miller N., Minx P., Fulton R., Johnson D., Bemis G., Bentley D., Bradshaw H., Bourne S., Cordes M., Du Z., Fulton L., Goela D., Graves T., Hawkins J., Hinds K., Kemp K., Latreille P., Layman D., Ozersky P., Rohlfing T., Scheet P., Walker C., Wamsley A., Wohldmann P., Pepin K., Nelson J., Korf I., Bedell J.A., Hillier L.W., Mardis E., Waterston R., Wilson R., Emanuel B.S., Shaikh T., Kurahashi H., Saitta S., Budarf M.L., McDermid H.E., Johnson A., Wong A.C.C., Morrow B.E., Edelmann L., Kim U.J., Shizuya H., Simon M.I., Dumanski J.P., Peyrard M., Kedra D., Seroussi E., Fransson I., Tapia I., Bruder C.E., O'Brien K.P., Wilkinson P., Bodenteich A., Hartman K., Hu X., Khan A.S., Lane L., Tilahun Y., Wright H.
      Nature 402:489-495(1999) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
    6. "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
      The MGC Project Team
      Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1B).
      Tissue: Brain.
    7. Cited for: SUBCELLULAR LOCATION [LARGE SCALE ANALYSIS].
      Tissue: Melanoma.
    8. "Lys-N and trypsin cover complementary parts of the phosphoproteome in a refined SCX-based approach."
      Gauci S., Helbig A.O., Slijper M., Krijgsveld J., Heck A.J., Mohammed S.
      Anal. Chem. 81:4493-4501(2009) [PubMed] [Europe PMC] [Abstract]
      Cited for: ACETYLATION [LARGE SCALE ANALYSIS] AT MET-1, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
    9. "Identification of rare mutations of synaptogyrin 1 gene in patients with schizophrenia."
      Cheng M.C., Chen C.H.
      J. Psychiatr. Res. 41:1027-1031(2007) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANTS ASN-202 INS AND GLY-222.

    Entry informationi

    Entry nameiSNG1_HUMAN
    AccessioniPrimary (citable) accession number: O43759
    Secondary accession number(s): A6NP69
    , A8K0E2, O43757, O43758, Q53Y02, Q96J56, Q9UGZ4
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: May 30, 2000
    Last sequence update: October 3, 2006
    Last modified: October 1, 2014
    This is version 120 of the entry and version 2 of the sequence. [Complete history]
    Entry statusiReviewed (UniProtKB/Swiss-Prot)
    Annotation programChordata Protein Annotation Program
    DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

    Miscellaneousi

    Keywords - Technical termi

    Complete proteome, Reference proteome

    Documents

    1. Human chromosome 22
      Human chromosome 22: entries, gene names and cross-references to MIM
    2. Human entries with polymorphisms or disease mutations
      List of human entries with polymorphisms or disease mutations
    3. Human polymorphisms and disease mutations
      Index of human polymorphisms and disease mutations
    4. MIM cross-references
      Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
    5. SIMILARITY comments
      Index of protein domains and families

    External Data

    Dasty 3