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O43759 (SNG1_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified March 19, 2014. Version 117. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (5) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Alt products·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended name:
Synaptogyrin-1
Gene names
Name:SYNGR1
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length233 AA.
Sequence statusComplete.
Protein existenceEvidence at protein level

General annotation (Comments)

Function

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

Subcellular location

Membrane; Multi-pass membrane protein. Melanosome. Cell junctionsynapse. Note: Identified by mass spectrometry in melanosome fractions from stage I to stage IV. Ref.7

Sequence similarities

Belongs to the synaptogyrin family.

Contains 1 MARVEL domain.

Alternative products

This entry describes 3 isoforms produced by alternative splicing. [Align] [Select]
Isoform 1A (identifier: O43759-1)

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.
Isoform 1B (identifier: O43759-2)

The sequence of this isoform differs from the canonical sequence as follows:
     162-233: AGQAVLAFQR...EPQGYQSQGY → SLTAALAVRRFKDLSFQEEYSTLFPASAQP
Isoform 1C (identifier: O43759-3)

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

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 233233Synaptogyrin-1
PRO_0000183990

Regions

Transmembrane24 – 4421Helical; Potential
Transmembrane72 – 9221Helical; Potential
Transmembrane104 – 12421Helical; Potential
Transmembrane149 – 16921Helical; Potential
Domain20 – 173154MARVEL

Amino acid modifications

Modified residue11N-acetylmethionine Ref.8

Natural variations

Alternative sequence1 – 3333MEGGA…RVVSW → MLTLEFGILEFDPSWIGSWT QRSWVSWRSRPGCE in isoform 1C.
VSP_006331
Alternative sequence162 – 23372AGQAV…QSQGY → SLTAALAVRRFKDLSFQEEY STLFPASAQP in isoform 1B and isoform 1C.
VSP_006332
Natural variant2021P → PN. Ref.1 Ref.2 Ref.4 Ref.9
VAR_060489
Natural variant2221D → G in a patient affected by schizophrenia. Ref.9
VAR_060490

Sequences

Sequence LengthMass (Da)Tools
Isoform 1A [UniParc].

Last modified October 3, 2006. Version 2.
Checksum: 8DE7000A46960213

FASTA23325,456
        10         20         30         40         50         60 
MEGGAYGAGK AGGAFDPYTL VRQPHTILRV VSWLFSIVVF GSIVNEGYLN SASEGEEFCI 

        70         80         90        100        110        120 
YNRNPNACSY GVAVGVLAFL TCLLYLALDV YFPQISSVKD RKKAVLSDIG VSAFWAFLWF 

       130        140        150        160        170        180 
VGFCYLANQW QVSKPKDNPL NEGTDAARAA IAFSFFSIFT WAGQAVLAFQ RYQIGADSAL 

       190        200        210        220        230 
FSQDYMDPSQ DSSMPYAPYV EPTGPDPAGM GGTYQQPANT FDTEPQGYQS QGY 

« Hide

Isoform 1B [UniParc].

Checksum: B620694C3DAEF56C
Show »

FASTA19121,038
Isoform 1C [UniParc].

Checksum: 2C42A04B3D8DDAA6
Show »

FASTA19221,591

References

« Hide 'large scale' references
[1]"Characterization of the human synaptogyrin gene family."
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.
Hum. Genet. 103:131-141(1998) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORMS 1A; 1B AND 1C), VARIANT ASN-202 INS.
[2]"A genome annotation-driven approach to cloning the human ORFeome."
Collins J.E., Wright C.L., Edwards C.A., Davis M.P., Grinham J.A., Cole C.G., Goward M.E., Aguado B., Mallya M., Mokrab Y., Huckle E.J., Beare D.M., Dunham I.
Genome Biol. 5:R84.1-R84.11(2004) [PubMed] [Europe PMC] [Abstract]
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. expand/collapse author list , 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. expand/collapse author list , 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]"Proteomic and bioinformatic characterization of the biogenesis and function of melanosomes."
Chi A., Valencia J.C., Hu Z.-Z., Watabe H., Yamaguchi H., Mangini N.J., Huang H., Canfield V.A., Cheng K.C., Yang F., Abe R., Yamagishi S., Shabanowitz J., Hearing V.J., Wu C., Appella E., Hunt D.F.
J. Proteome Res. 5:3135-3144(2006) [PubMed] [Europe PMC] [Abstract]
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.
+Additional computationally mapped references.

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
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.
RefSeqNP_004702.2. NM_004711.4.
NP_663783.1. NM_145731.3.
NP_663791.1. NM_145738.2.
UniGeneHs.216226.

3D structure databases

ProteinModelPortalO43759.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

BioGrid114592. 1 interaction.
IntActO43759. 2 interactions.
STRING9606.ENSP00000332287.

PTM databases

PhosphoSiteO43759.

Proteomic databases

PaxDbO43759.
PRIDEO43759.

Protocols and materials databases

DNASU9145.
StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000318801; ENSP00000318845; ENSG00000100321. [O43759-2]
ENST00000328933; ENSP00000332287; ENSG00000100321. [O43759-1]
ENST00000381535; ENSP00000370946; ENSG00000100321. [O43759-3]
GeneID9145.
KEGGhsa:9145.
UCSCuc003axo.4. human. [O43759-2]
uc003axq.4. human. [O43759-1]
uc003axs.4. human. [O43759-3]

Organism-specific databases

CTD9145.
GeneCardsGC22P039745.
HGNCHGNC:11498. SYNGR1.
HPACAB034277.
HPA029673.
MIM603925. gene.
neXtProtNX_O43759.
PharmGKBPA36280.
GenAtlasSearch...

Phylogenomic databases

eggNOGNOG306774.
HOVERGENHBG000896.
InParanoidO43759.
OMACISSEGW.
OrthoDBEOG7VTDQ1.
PhylomeDBO43759.
TreeFamTF320995.

Gene expression databases

ArrayExpressO43759.
BgeeO43759.
CleanExHS_SYNGR1.
GenevestigatorO43759.

Family and domain databases

InterProIPR008253. Marvel.
IPR016579. Synaptogyrin.
[Graphical view]
PfamPF01284. MARVEL. 1 hit.
[Graphical view]
PIRSFPIRSF011282. Synaptogyrin. 1 hit.
PROSITEPS51225. MARVEL. 1 hit.
[Graphical view]
ProtoNetSearch...

Other

ChiTaRSSYNGR1. human.
GeneWikiSYNGR1.
GenomeRNAi9145.
NextBio34299.
PROO43759.
SOURCESearch...

Entry information

Entry nameSNG1_HUMAN
AccessionPrimary (citable) accession number: O43759
Secondary accession number(s): A6NP69 expand/collapse secondary AC list , A8K0E2, O43757, O43758, Q53Y02, Q96J56, Q9UGZ4
Entry history
Integrated into UniProtKB/Swiss-Prot: May 30, 2000
Last sequence update: October 3, 2006
Last modified: March 19, 2014
This is version 117 of the entry and version 2 of the sequence. [Complete history]
Entry statusReviewed (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.

Relevant documents

SIMILARITY comments

Index of protein domains and families

MIM cross-references

Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

Human polymorphisms and disease mutations

Index of human polymorphisms and disease mutations

Human entries with polymorphisms or disease mutations

List of human entries with polymorphisms or disease mutations

Human chromosome 22

Human chromosome 22: entries, gene names and cross-references to MIM