O43759 (SNG1_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

Recommended name:
Synaptogyrin-1

Gene names

Name:

SYNGR1

Organism

Homo sapiens (Human) [Reference proteome]

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

cellular organisms › Eukaryota › Opisthokonta › Metazoa › Eumetazoa › Bilateria › Deuterostomia › Chordata › Craniata › Vertebrata › Gnathostomata › Teleostomi › Euteleostomi › Sarcopterygii › Tetrapoda › Amniota › Mammalia › Theria › Eutheria › Euarchontoglires › Primates › Haplorrhini › Simiiformes › Catarrhini › Hominoidea › Hominidae › Homininae › Homo

Protein attributes

Sequence length	233 AA.
Sequence status	Complete.
Protein existence	Evidence 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 junction › synapse. 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.

Ontologies

Keywords
Cellular component	Cell junction Membrane Synapse
Coding sequence diversity	Alternative splicing Polymorphism
Domain	Transmembrane Transmembrane helix
Technical term	Complete proteome Reference proteome
Gene Ontology (GO)
Biological_process	protein targeting Inferred from electronic annotation. Source: Compara regulation of long-term neuronal synaptic plasticity Inferred from sequence or structural similarity. Source: UniProtKB regulation of short-term neuronal synaptic plasticity Inferred from sequence or structural similarity. Source: UniProtKB
Cellular_component	cell junction Inferred from electronic annotation. Source: UniProtKB-KW integral to membrane Inferred from electronic annotation. Source: UniProtKB-KW melanosome Inferred from electronic annotation. Source: UniProtKB-SubCell synaptic vesicle membrane Inferred from electronic annotation. Source: Compara
Complete GO annotation...

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 key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Chain	1 – 233	233	Synaptogyrin-1		PRO_0000183990
Regions
	Transmembrane	24 – 44	21	Helical; Potential
	Transmembrane	72 – 92	21	Helical; Potential
	Transmembrane	104 – 124	21	Helical; Potential
	Transmembrane	149 – 169	21	Helical; Potential
	Domain	20 – 173	154	MARVEL
Natural variations
	Alternative sequence	1 – 33	33	MEGGA…RVVSW → MLTLEFGILEFDPSWIGSWT QRSWVSWRSRPGCE in isoform 1C.		VSP_006331
	Alternative sequence	162 – 233	72	AGQAV…QSQGY → SLTAALAVRRFKDLSFQEEY STLFPASAQP in isoform 1B and isoform 1C.		VSP_006332
	Natural variant	202	1	P → PN. Ref.1 Ref.2 Ref.4 Ref.8		VAR_060489
	Natural variant	222	1	D → G in a patient affected by schizophrenia. Ref.8		VAR_060490

Sequences

	Sequence		Length	Mass (Da)
	Isoform 1A [UniParc]. Last modified October 3, 2006. Version 2. Checksum: 8DE7000A46960213	FASTA	233	25,456
	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
	Isoform 1B [UniParc]. Checksum: B620694C3DAEF56C	FASTA	191	21,038
	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 WSLTAALAVR RFKDLSFQEE 190 YSTLFPASAQ P
	Isoform 1C [UniParc]. Checksum: 2C42A04B3D8DDAA6	FASTA	192	21,591
	10 20 30 40 50 60 MLTLEFGILE FDPSWIGSWT QRSWVSWRSR PGCELFSIVV FGSIVNEGYL NSASEGEEFC 70 80 90 100 110 120 IYNRNPNACS YGVAVGVLAF LTCLLYLALD VYFPQISSVK DRKKAVLSDI GVSAFWAFLW 130 140 150 160 170 180 FVGFCYLANQ WQVSKPKDNP LNEGTDAARA AIAFSFFSIF TWSLTAALAV RRFKDLSFQE 190 EYSTLFPASA QP

References

	« Hide 'large scale' referencesShow '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. , 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]	"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], MASS SPECTROMETRY. Tissue: Melanoma.
[8]	"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.
IPI	IPI00013940. IPI00178631. IPI00745347.
RefSeq	NP_004702.2. NM_004711.4. NP_663783.1. NM_145731.3. NP_663791.1. NM_145738.2.
UniGene	Hs.216226.
3D structure databases
ProteinModelPortal	O43759.
ModBase	Search...
Protein-protein interaction databases
IntAct	O43759. 1 interaction.
STRING	9606.ENSP00000332287.
PTM databases
PhosphoSite	O43759.
Proteomic databases
PaxDb	O43759.
PRIDE	O43759.
Protocols and materials databases
DNASU	9145.
StructuralBiologyKnowledgebase	Search...
Genome annotation databases
Ensembl	ENST00000318801; ENSP00000318845; ENSG00000100321. ENST00000328933; ENSP00000332287; ENSG00000100321. ENST00000381535; ENSP00000370946; ENSG00000100321.
GeneID	9145.
KEGG	hsa:9145.
UCSC	uc003axo.4. human. uc003axq.4. human. uc003axs.4. human.
Organism-specific databases
CTD	9145.
GeneCards	GC22P039745.
HGNC	HGNC:11498. SYNGR1.
HPA	CAB034277. HPA029673.
MIM	603925. gene.
neXtProt	NX_O43759.
PharmGKB	PA36280.
GenAtlas	Search...
Phylogenomic databases
eggNOG	NOG306774.
HOVERGEN	HBG000896.
InParanoid	O43759.
OMA	CISSEGW.
PhylomeDB	O43759.
Gene expression databases
ArrayExpress	O43759.
Bgee	O43759.
CleanEx	HS_SYNGR1.
Genevestigator	O43759.
GermOnline	ENSG00000100321. Homo sapiens.
Family and domain databases
InterPro	IPR008253. Marvel. IPR021128. MARVEL-like_dom. IPR016579. Synaptogyrin. [Graphical view]
Pfam	PF01284. MARVEL. 1 hit. [Graphical view]
PIRSF	PIRSF011282. Synaptogyrin. 1 hit.
PROSITE	PS51225. MARVEL. 1 hit. [Graphical view]
ProtoNet	Search...
Other
ChiTaRS	SYNGR1. human.
GenomeRNAi	9145.
NextBio	34299.
SOURCE	Search...

Entry information

Entry name

SNG1_HUMAN

Accession

Primary (citable) accession number: O43759
Secondary accession number(s): A6NP69 , A8K0E2, O43757, O43758, Q53Y02, Q96J56, Q9UGZ4

Entry history

Integrated into UniProtKB/Swiss-Prot:	May 30, 2000
Last sequence update:	October 3, 2006
Last modified:	April 3, 2013
This is version 110 of the entry and version 2 of the sequence. [Complete history]

Entry status

Reviewed (UniProtKB/Swiss-Prot)

Annotation program

Chordata Protein Annotation Program

Disclaimer

Any 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.