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O43759

- SNG1_HUMAN

UniProt

O43759 - SNG1_HUMAN

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Protein

Synaptogyrin-1

Gene
SYNGR1
Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 4 out of 5 - Experimental evidence at protein leveli

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
Complete GO annotation...

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

Topology

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Transmembranei24 – 4421Helical; Reviewed predictionAdd
BLAST
Transmembranei72 – 9221Helical; Reviewed predictionAdd
BLAST
Transmembranei104 – 12421Helical; Reviewed predictionAdd
BLAST
Transmembranei149 – 16921Helical; Reviewed predictionAdd
BLAST

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
Complete GO annotation...

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.

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Domaini20 – 173154MARVELAdd
BLAST

Sequence similaritiesi

Belongs to the synaptogyrin family.
Contains 1 MARVEL domain.

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. VSP_006331Add
BLAST
Alternative sequencei162 – 23372AGQAV…QSQGY → SLTAALAVRRFKDLSFQEEY STLFPASAQP in isoform 1B and isoform 1C. VSP_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

« Hide 'large scale' publications
  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: July 9, 2014
This is version 119 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

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