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) [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	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	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.

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 Ref.1. Source: ProtInc activation of signaling protein activity involved in unfolded protein response Traceable author statement. Source: Reactome cellular membrane fusion Traceable author statement Ref.1. Source: ProtInc protein transport Inferred from electronic annotation. Source: UniProtKB-KW
Cellular_component	Golgi membrane Traceable author statement. Source: Reactome Golgi stack Inferred from electronic annotation. Source: InterPro integral to membrane Inferred from electronic annotation. Source: UniProtKB-KW
Molecular_function	transporter activity Traceable author statement Ref.1. Source: ProtInc
Complete GO annotation...

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 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.8

Natural variations

Alternative sequence

160 – 212

53

GTQKK…VQYLT → VGSLLGDREKASCFSLIQQF SNCVYILITCPQIVIF in isoform 3.

VSP_043200

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.10

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

Secondary structure

1

.

.

.

212

Helix Strand Turn

Details...

Beta strand

117 – 119

3

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
	Isoform 3 [UniParc]. Checksum: AEC4DA42C06B1D2E	FASTA	195	22,725
	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 LRTQRLTLKV GSLLGDREKA SCFSLIQQFS 190 NCVYILITCP QIVIF

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] [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. , 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. , 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. , 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, 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.

IPI

IPI00023135.
IPI00166676.
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

9606.ENSP00000225567.

PTM databases

PhosphoSite

O14653.

Proteomic databases

PaxDb

O14653.

PRIDE

O14653.

Protocols and materials databases

DNASU

9570.

StructuralBiologyKnowledgebase

Search...

Genome annotation databases

Ensembl

ENST00000225567; ENSP00000225567; ENSG00000108433.
ENST00000393456; ENSP00000377101; ENSG00000108433.
ENST00000415811; ENSP00000394559; ENSG00000108433.

GeneID

9570.

KEGG

hsa:9570.

UCSC

uc002ikz.3. human.
uc002ila.3. human.

Organism-specific databases

CTD

9570.

GeneCards

GC17P045000.

HGNC

HGNC:4431. GOSR2.

HPA

CAB017456.
HPA054472.

MIM

604027. gene.
614018. phenotype.

neXtProt

NX_O14653.

Orphanet

280620. Progressive myoclonic epilepsy type 6.

PharmGKB

PA28816.

GenAtlas

Search...

Phylogenomic databases

eggNOG

NOG148687.

HOGENOM

HOG000231153.

HOVERGEN

HBG051765.

KO

K08496.

Enzyme and pathway databases

Pathway_Interaction_DB

arf_3pathway. Arf1 pathway.

Reactome

REACT_116125. Disease.

Gene expression databases

ArrayExpress

O14653.

Bgee

O14653.

CleanEx

HS_GOSR2.

Genevestigator

O14653.

GermOnline

ENSG00000108433. Homo sapiens.

Family and domain databases

InterPro

IPR027027. GOSR2/Membrin/Bos1.
[Graphical view]

PIRSF

PIRSF028865. Membrin-2. 1 hit.

ProtoNet

Search...

Other

EvolutionaryTrace

O14653.

GenomeRNAi

9570.

NextBio

35891.

SOURCE

Search...

Entry information

Entry name

GOSR2_HUMAN

Accession

Primary (citable) accession number: O14653
Secondary accession number(s): D3DXJ5 , D3DXJ6, Q8N4B8, Q96DA5, Q9BZZ4

Entry history

Integrated into UniProtKB/Swiss-Prot:	December 1, 2000
Last sequence update:	August 30, 2002
Last modified:	May 1, 2013
This is version 115 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.