O14653 (GOSR2_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

Recommended name:
Golgi SNAP receptor complex member 2

Alternative name(s):
27 kDa Golgi SNARE protein
Membrin

Gene names

Name:	GOSR2
Synonyms:	GS27

Organism

Homo sapiens (Human)

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo

Protein attributes

Sequence length	212 AA.
Sequence status	Complete.
Protein existence	Evidence 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 apparatus membrane; Single-pass type IV membrane protein Potential.
Involvement in disease	Defects in GOSR2 are the cause of progressive myoclonic epilepsy type 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. Ref.8
Sequence similarities	Belongs to the GOSR2 family.

Ontologies

Keywords
Biological process	Protein transport Transport
Cellular component	Golgi apparatus Membrane
Coding sequence diversity	Alternative splicing Polymorphism
Disease	Disease mutation Epilepsy
Domain	Coiled coil Transmembrane Transmembrane helix
PTM	Acetylation
Technical term	3D-structure Complete proteome Direct protein sequencing Reference proteome
Gene Ontology (GO)
Biological process	ER to Golgi vesicle-mediated transport Traceable author statement. Source: ProtInc cellular membrane fusion Traceable author statement. Source: ProtInc protein transport Inferred from electronic annotation. Source: UniProtKB-KW
Cellular component	Golgi membrane Traceable author statement. Source: Reactome integral to membrane Inferred from electronic annotation. Source: UniProtKB-KW
Molecular function	transporter activity Traceable author statement. Source: ProtInc
Complete GO annotation...

Alternative products

This entry describes 2 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

Sequence annotation (Features)

	Feature key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Chain	1 – 212	212	Golgi SNAP receptor complex member 2		PRO_0000212549
Regions
	Topological domain	1 – 190	190	Cytoplasmic Potential
	Transmembrane	191 – 211	21	Helical; Anchor for type IV membrane protein; Potential
	Topological domain	212	1	Vesicular Potential
	Coiled coil	61 – 107	47	Potential
Amino acid modifications
	Modified residue	1	1	N-acetylmethionine Ref.6
Natural variations
	Alternative sequence	196 – 212	17	GMLLT…VQYLT → TQGSCQTAHFGGRSAGSS in isoform B.		VSP_001829
	Natural variant	67	1	R → K. Corresponds to variant rs197922 [ dbSNP | Ensembl ].		VAR_024471
	Natural variant	144	1	G → W in EPM6; loss of function. Ref.8		VAR_065833
Experimental info
	Sequence conflict	106	1	S → C in AAB82651. Ref.1
	Sequence conflict	113	1	D → G in AAB82651. Ref.1
	Sequence conflict	166	1	L → P in AAB82651. Ref.1

Sequences

	Sequence		Length	Mass (Da)
	Isoform A [UniParc]. Last modified August 30, 2002. Version 2. Checksum: 4D5585CF858A610F	FASTA	212	24,775
	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
	Isoform B [UniParc]. Checksum: 990393DAD02BC374	FASTA	213	24,584
	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 YFMIGTQGSC QTAHFGGRSA GSS

References

	« Hide 'large scale' referencesShow '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: 9349823] [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: 10198168] [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]	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. , 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].
[5]	"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: 15489334] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM A). Tissue: Lung.
[6]	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, MASS SPECTROMETRY. Tissue: Osteosarcoma.
[7]	"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: 21269460] [Abstract] Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
[8]	"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: 21549339] [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.
CH471231 Genomic DNA. Translation: EAW57694.1.
CH471231 Genomic DNA. Translation: EAW57695.1.
CH471231 Genomic DNA. Translation: EAW57699.1.
CH471231 Genomic DNA. Translation: EAW57700.1.
BC009710 mRNA. Translation: AAH09710.1.

IPI

IPI00023135.
IPI00216965.

RefSeq

NP_001012529.1. NM_001012511.1.
NP_004278.2. NM_004287.3.
NP_473363.1. NM_054022.2.

UniGene

Hs.463278.

3D structure databases

PDBe
RCSB PDB
PDBj

Entry	Method	Resolution (Å)	Chain	Positions	PDBsum
3EG9	X-ray	3.00	C	116-121	[»]

ProteinModelPortal

O14653.

SMR

O14653. Positions 124-180.

ModBase

Search...

Protein-protein interaction databases

STRING

O14653.

Proteomic databases

PRIDE

O14653.

Protocols and materials databases

StructuralBiologyKnowledgebase

Search...

Genome annotation databases

Ensembl

ENST00000393456; ENSP00000377101; ENSG00000108433.

GeneID

9570.

KEGG

hsa:9570.

UCSC

uc002ikz.1. human.
uc002ila.1. human.

Organism-specific databases

CTD

9570.

GeneCards

GC17P045000.

HGNC

HGNC:4431. GOSR2.

HPA

CAB017456.

MIM

604027. gene.
614018. phenotype.

neXtProt

NX_O14653.

PharmGKB

PA28816.

GenAtlas

Search...

Phylogenomic databases

eggNOG

prNOG13643.

GeneTree

ENSGT00490000043403.

HOVERGEN

HBG051765.

PhylomeDB

O14653.

Enzyme and pathway databases

Pathway_Interaction_DB

arf_3pathway. Arf1 pathway.

Reactome

REACT_15380. Diabetes pathways.

Gene expression databases

ArrayExpress

O14653.

Bgee

O14653.

CleanEx

HS_GOSR2.

Genevestigator

O14653.

GermOnline

ENSG00000108433. Homo sapiens.

Family and domain databases

KO

K08496.

ProtoNet

Search...

Other

NextBio

35891.

SOURCE

Search...

Entry information

Entry name

GOSR2_HUMAN

Accession

Primary (citable) accession number: O14653
Secondary accession number(s): D3DXJ5 , D3DXJ6, Q96DA5, Q9BZZ4

Entry history

Integrated into UniProtKB/Swiss-Prot:	December 1, 2000
Last sequence update:	August 30, 2002
Last modified:	January 25, 2012
This is version 102 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.