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O14653 (GOSR2_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified April 16, 2014. Version 124. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (6) | 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:
Golgi SNAP receptor complex member 2
Alternative name(s):
27 kDa Golgi SNARE protein
Membrin
Gene names
Name:GOSR2
Synonyms:GS27
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length212 AA.
Sequence statusComplete.
Protein existenceEvidence at protein level

General annotation (Comments)

Function

Involved in transport of proteins from the cis/medial-Golgi to the trans-Golgi network.

Subunit structure

Identified in a unique SNARE complex composed of the Golgi SNAREs GOSR1, STX5 and YKT6 By similarity.

Subcellular location

Golgi apparatuscis-Golgi network membrane; Single-pass type IV membrane protein By similarity. Golgi apparatus membrane By similarity. Note: Concentrated most in the intermediate compartment/cis-Golgi network and the cis-Golgi cisternae 1 and 2. Greatly reduced in concentration at the trans end of the Golgi apparatus By similarity.

Involvement in disease

Epilepsy, progressive myoclonic 6 (EPM6) [MIM:614018]: A neurologic disorder characterized by onset of ataxia in the first years of life, followed by action myoclonus and seizures later in childhood, and loss of independent ambulation in the second decade. Cognition is not usually affected, although mild memory difficulties may occur in the third decade.
Note: The disease is caused by mutations affecting the gene represented in this entry. Ref.10

Sequence similarities

Belongs to the GOSR2 family.

Alternative products

This entry describes 3 isoforms produced by alternative splicing. [Align] [Select]
Isoform A (identifier: O14653-1)

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 B (identifier: O14653-2)

The sequence of this isoform differs from the canonical sequence as follows:
     196-212: GMLLTCVVMFLVVQYLT → TQGSCQTAHFGGRSAGSS
Isoform 3 (identifier: O14653-3)

The sequence of this isoform differs from the canonical sequence as follows:
     160-212: GTQKKILDIA...VMFLVVQYLT → VGSLLGDREK...LITCPQIVIF

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 212212Golgi SNAP receptor complex member 2
PRO_0000212549

Regions

Topological domain1 – 190190Cytoplasmic Potential
Transmembrane191 – 21121Helical; Anchor for type IV membrane protein; Potential
Topological domain2121Vesicular Potential
Coiled coil61 – 10747 Potential

Amino acid modifications

Modified residue11N-acetylmethionine Ref.8

Natural variations

Alternative sequence160 – 21253GTQKK…VQYLT → VGSLLGDREKASCFSLIQQF SNCVYILITCPQIVIF in isoform 3.
VSP_043200
Alternative sequence196 – 21217GMLLT…VQYLT → TQGSCQTAHFGGRSAGSS in isoform B.
VSP_001829
Natural variant671R → K.
Corresponds to variant rs197922 [ dbSNP | Ensembl ].
VAR_024471
Natural variant1441G → W in EPM6; loss of function. Ref.10
VAR_065833

Experimental info

Sequence conflict1061S → C in AAB82651. Ref.1
Sequence conflict1131D → G in AAB82651. Ref.1
Sequence conflict1661L → P in AAB82651. Ref.1

Secondary structure

... 212
Helix Strand Turn

Details...

Sequences

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

Last modified August 30, 2002. Version 2.
Checksum: 4D5585CF858A610F

FASTA21224,775
        10         20         30         40         50         60 
MDPLFQQTHK QVHEIQSCMG RLETADKQSV HIVENEIQAS IDQIFSRLER LEILSSKEPP 

        70         80         90        100        110        120 
NKRQNARLRV DQLKYDVQHL QTALRNFQHR RHAREQQERQ REELLSRTFT TNDSDTTIPM 

       130        140        150        160        170        180 
DESLQFNSSL QKVHNGMDDL ILDGHNILDG LRTQRLTLKG TQKKILDIAN MLGLSNTVMR 

       190        200        210 
LIEKRAFQDK YFMIGGMLLT CVVMFLVVQY LT 

« Hide

Isoform B [UniParc].

Checksum: 990393DAD02BC374
Show »

FASTA21324,584
Isoform 3 [UniParc].

Checksum: AEC4DA42C06B1D2E
Show »

FASTA19522,725

References

« Hide 'large scale' references
[1]"A SNARE involved in protein transport through the Golgi apparatus."
Lowe S.L., Peter F., Subramaniam V.N., Wong S.H., Hong W.
Nature 389:881-884(1997) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM A).
[2]"cDNA characterization and chromosomal mapping of human Golgi SNARE GS27 and GS28 to chromosome 17."
Bui T.D., Levy E.R., Subramaniam V.N., Lowe S.L., Hong W.
Genomics 57:285-288(1999) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM A).
[3]"Gene organization of human Golgi SNARE GS27."
Bui T.D., Hong W.
Submitted (JAN-2000) to the EMBL/GenBank/DDBJ databases
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM B).
[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 3).
[5]"DNA sequence of human chromosome 17 and analysis of rearrangement in the human lineage."
Zody M.C., Garber M., Adams D.J., Sharpe T., Harrow J., Lupski J.R., Nicholson C., Searle S.M., Wilming L., Young S.K., Abouelleil A., Allen N.R., Bi W., Bloom T., Borowsky M.L., Bugalter B.E., Butler J., Chang J.L. expand/collapse author list , Chen C.-K., Cook A., Corum B., Cuomo C.A., de Jong P.J., DeCaprio D., Dewar K., FitzGerald M., Gilbert J., Gibson R., Gnerre S., Goldstein S., Grafham D.V., Grocock R., Hafez N., Hagopian D.S., Hart E., Norman C.H., Humphray S., Jaffe D.B., Jones M., Kamal M., Khodiyar V.K., LaButti K., Laird G., Lehoczky J., Liu X., Lokyitsang T., Loveland J., Lui A., Macdonald P., Major J.E., Matthews L., Mauceli E., McCarroll S.A., Mihalev A.H., Mudge J., Nguyen C., Nicol R., O'Leary S.B., Osoegawa K., Schwartz D.C., Shaw-Smith C., Stankiewicz P., Steward C., Swarbreck D., Venkataraman V., Whittaker C.A., Yang X., Zimmer A.R., Bradley A., Hubbard T., Birren B.W., Rogers J., Lander E.S., Nusbaum C.
Nature 440:1045-1049(2006) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[6]Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L., Mobarry C.M., Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R., Flanigan M.J., Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V., Hannenhalli S., Turner R. expand/collapse author list , Yooseph S., Lu F., Nusskern D.R., Shue B.C., Zheng X.H., Zhong F., Delcher A.L., Huson D.H., Kravitz S.A., Mouchard L., Reinert K., Remington K.A., Clark A.G., Waterman M.S., Eichler E.E., Adams M.D., Hunkapiller M.W., Myers E.W., Venter J.C.
Submitted (SEP-2005) to the EMBL/GenBank/DDBJ databases
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[7]"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] (ISOFORMS A AND 3).
Tissue: Colon and Lung.
[8]Bienvenut W.V., Lao L., Ryan K.M.
Submitted (JUN-2009) to UniProtKB
Cited for: PROTEIN SEQUENCE OF 1-10; 51-63 AND 75-85, ACETYLATION AT MET-1, IDENTIFICATION BY MASS SPECTROMETRY.
Tissue: Osteosarcoma.
[9]"Initial characterization of the human central proteome."
Burkard T.R., Planyavsky M., Kaupe I., Breitwieser F.P., Buerckstuemmer T., Bennett K.L., Superti-Furga G., Colinge J.
BMC Syst. Biol. 5:17-17(2011) [PubMed] [Europe PMC] [Abstract]
Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
[10]"A mutation in the Golgi Qb-SNARE gene GOSR2 causes progressive myoclonus epilepsy with early ataxia."
Corbett M.A., Schwake M., Bahlo M., Dibbens L.M., Lin M., Gandolfo L.C., Vears D.F., O'Sullivan J.D., Robertson T., Bayly M.A., Gardner A.E., Vlaar A.M., Korenke G.C., Bloem B.R., de Coo I.F., Verhagen J.M., Lehesjoki A.E., Gecz J., Berkovic S.F.
Am. J. Hum. Genet. 88:657-663(2011) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANT EPM6 TRP-144, CHARACTERIZATION OF VARIANT EPM6 TRP-144.
+Additional computationally mapped references.

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
AF007548 mRNA. Translation: AAB82651.1.
AF229796 mRNA. Translation: AAK01855.1.
AK290890 mRNA. Translation: BAF83579.1.
AC005670 Genomic DNA. No translation available.
CH471231 Genomic DNA. Translation: EAW57694.1.
CH471231 Genomic DNA. Translation: EAW57695.1.
CH471231 Genomic DNA. Translation: EAW57699.1.
CH471231 Genomic DNA. Translation: EAW57700.1.
BC034762 mRNA. Translation: AAH34762.1.
BC009710 mRNA. Translation: AAH09710.1.
RefSeqNP_001012529.1. NM_001012511.1.
NP_004278.2. NM_004287.3.
NP_473363.1. NM_054022.2.
UniGeneHs.463278.

3D structure databases

PDBe
RCSB PDB
PDBj
EntryMethodResolution (Å)ChainPositionsPDBsum
3EG9X-ray3.00C116-121[»]
ProteinModelPortalO14653.
SMRO14653. Positions 124-180.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

BioGrid114940. 4 interactions.
STRING9606.ENSP00000225567.

PTM databases

PhosphoSiteO14653.

Proteomic databases

PaxDbO14653.
PRIDEO14653.

Protocols and materials databases

DNASU9570.
StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000225567; ENSP00000225567; ENSG00000108433. [O14653-2]
ENST00000393456; ENSP00000377101; ENSG00000108433. [O14653-1]
ENST00000415811; ENSP00000394559; ENSG00000108433. [O14653-3]
GeneID9570.
KEGGhsa:9570.
UCSCuc002iky.3. human. [O14653-3]
uc002ikz.3. human. [O14653-2]
uc002ila.3. human. [O14653-1]

Organism-specific databases

CTD9570.
GeneCardsGC17P045000.
HGNCHGNC:4431. GOSR2.
HPACAB017456.
HPA054472.
MIM604027. gene.
614018. phenotype.
neXtProtNX_O14653.
Orphanet280620. Progressive myoclonic epilepsy type 6.
PharmGKBPA28816.
GenAtlasSearch...

Phylogenomic databases

eggNOGNOG148687.
HOGENOMHOG000231153.
HOVERGENHBG051765.
KOK08496.
PhylomeDBO14653.
TreeFamTF313702.

Enzyme and pathway databases

ReactomeREACT_17015. Metabolism of proteins.

Gene expression databases

ArrayExpressO14653.
BgeeO14653.
CleanExHS_GOSR2.
GenevestigatorO14653.

Family and domain databases

InterProIPR027027. GOSR2/Membrin/Bos1.
IPR010989. t-SNARE.
[Graphical view]
PIRSFPIRSF028865. Membrin-2. 1 hit.
SUPFAMSSF47661. SSF47661. 1 hit.
ProtoNetSearch...

Other

EvolutionaryTraceO14653.
GeneWikiGOSR2.
GenomeRNAi9570.
NextBio35891.
PROO14653.
SOURCESearch...

Entry information

Entry nameGOSR2_HUMAN
AccessionPrimary (citable) accession number: O14653
Secondary accession number(s): D3DXJ5 expand/collapse secondary AC list , D3DXJ6, Q8N4B8, Q96DA5, Q9BZZ4
Entry history
Integrated into UniProtKB/Swiss-Prot: December 1, 2000
Last sequence update: August 30, 2002
Last modified: April 16, 2014
This is version 124 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

PDB cross-references

Index of Protein Data Bank (PDB) cross-references

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 17

Human chromosome 17: entries, gene names and cross-references to MIM