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Protein

Golgi SNAP receptor complex member 2

Gene

GOSR2

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 5 out of 5-Experimental evidence at protein leveli

Functioni

Involved in transport of proteins from the cis/medial-Golgi to the trans-Golgi network.1 Publication

GO - Molecular functioni

GO - Biological processi

Keywordsi

Biological processProtein transport, Transport

Enzyme and pathway databases

ReactomeiR-HSA-204005. COPII (Coat Protein 2) Mediated Vesicle Transport.
R-HSA-381038. XBP1(S) activates chaperone genes.
R-HSA-5694530. Cargo concentration in the ER.
R-HSA-6807878. COPI-mediated anterograde transport.
R-HSA-6811438. Intra-Golgi traffic.

Names & Taxonomyi

Protein namesi
Recommended name:
Golgi SNAP receptor complex member 2
Alternative name(s):
27 kDa Golgi SNARE protein
Membrin
Gene namesi
Name:GOSR2
Synonyms:GS27
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 17

Organism-specific databases

EuPathDBiHostDB:ENSG00000108433.15.
HGNCiHGNC:4431. GOSR2.

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Topology

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Topological domaini1 – 190CytoplasmicSequence analysisAdd BLAST190
Transmembranei191 – 211Helical; Anchor for type IV membrane proteinSequence analysisAdd BLAST21
Topological domaini212VesicularSequence analysis1

Keywords - Cellular componenti

Endoplasmic reticulum, Golgi apparatus, Membrane

Pathology & Biotechi

Involvement in diseasei

Epilepsy, progressive myoclonic 6 (EPM6)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA 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.
See also OMIM:614018
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_065833144G → W in EPM6; no effect on protein stability; loss of localization to the cis-Golgi network membrane; loss of function; unable to rescue the yeast strain lacking the ortholog Bos1. 1 PublicationCorresponds to variant dbSNP:rs387906881Ensembl.1

Mutagenesis

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Mutagenesisi118I → A: Loss of interaction with SEC24C. 1 Publication1
Mutagenesisi120M → A: Loss of interaction with SEC24C. 1 Publication1

Keywords - Diseasei

Disease mutation, Epilepsy

Organism-specific databases

DisGeNETi9570.
MalaCardsiGOSR2.
MIMi614018. phenotype.
OpenTargetsiENSG00000108433.
Orphaneti280620. Progressive myoclonic epilepsy type 6.
PharmGKBiPA28816.

Polymorphism and mutation databases

BioMutaiGOSR2.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00002125491 – 212Golgi SNAP receptor complex member 2Add BLAST212

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei1N-acetylmethionine1 Publication1

Keywords - PTMi

Acetylation

Proteomic databases

EPDiO14653.
MaxQBiO14653.
PaxDbiO14653.
PeptideAtlasiO14653.
PRIDEiO14653.

PTM databases

iPTMnetiO14653.
PhosphoSitePlusiO14653.

Expressioni

Gene expression databases

BgeeiENSG00000108433.
CleanExiHS_GOSR2.
ExpressionAtlasiO14653. baseline and differential.
GenevisibleiO14653. HS.

Organism-specific databases

HPAiCAB017456.
HPA048956.
HPA054472.

Interactioni

Subunit structurei

Part of a unique SNARE complex composed of the Golgi SNAREs GOSR1, STX5 and YKT6 (By similarity). Interacts (via IxM motif) with SEC24C and SEC24D; mediates GOSR2 packaging into COPII-coated vesicles (PubMed:18843296).By similarity1 Publication

Binary interactionsi

Show more details

GO - Molecular functioni

Protein-protein interaction databases

BioGridi114940. 23 interactors.
IntActiO14653. 22 interactors.
STRINGi9606.ENSP00000225567.

Structurei

Secondary structure

1212
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Beta strandi117 – 119Combined sources3

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
3EG9X-ray3.00C116-121[»]
ProteinModelPortaliO14653.
SMRiO14653.
ModBaseiSearch...
MobiDBiSearch...

Miscellaneous databases

EvolutionaryTraceiO14653.

Family & Domainsi

Coiled coil

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Coiled coili61 – 107Sequence analysisAdd BLAST47

Motif

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Motifi118 – 120IxM motif; signal for cargo packaging into COPII-coated vesicles1 Publication3

Sequence similaritiesi

Belongs to the GOSR2 family.Curated

Keywords - Domaini

Coiled coil, Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiKOG3251. Eukaryota.
ENOG4111M37. LUCA.
GeneTreeiENSGT00490000043403.
HOGENOMiHOG000231153.
HOVERGENiHBG051765.
InParanoidiO14653.
KOiK08496.
OrthoDBiEOG091G0KS8.
PhylomeDBiO14653.
TreeFamiTF313702.

Family and domain databases

InterProiView protein in InterPro
IPR027027. GOSR2/Membrin/Bos1.
IPR010989. SNARE.
PIRSFiPIRSF028865. Membrin-2. 1 hit.
SUPFAMiSSF47661. SSF47661. 1 hit.

Sequences (3)i

Sequence statusi: Complete.

This entry describes 3 isoformsi produced by alternative splicing. AlignAdd to basket

Isoform A (identifier: O14653-1) [UniParc]FASTAAdd to basket

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.

« Hide

        10         20         30         40         50
MDPLFQQTHK QVHEIQSCMG RLETADKQSV HIVENEIQAS IDQIFSRLER
60 70 80 90 100
LEILSSKEPP NKRQNARLRV DQLKYDVQHL QTALRNFQHR RHAREQQERQ
110 120 130 140 150
REELLSRTFT TNDSDTTIPM DESLQFNSSL QKVHNGMDDL ILDGHNILDG
160 170 180 190 200
LRTQRLTLKG TQKKILDIAN MLGLSNTVMR LIEKRAFQDK YFMIGGMLLT
210
CVVMFLVVQY LT
Length:212
Mass (Da):24,775
Last modified:August 30, 2002 - v2
Checksum:i4D5585CF858A610F
GO
Isoform B (identifier: O14653-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     196-212: GMLLTCVVMFLVVQYLT → TQGSCQTAHFGGRSAGSS

Show »
Length:213
Mass (Da):24,584
Checksum:i990393DAD02BC374
GO
Isoform 3 (identifier: O14653-3) [UniParc]FASTAAdd to basket

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

Show »
Length:195
Mass (Da):22,725
Checksum:iAEC4DA42C06B1D2E
GO

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti106S → C in AAB82651 (PubMed:9349823).Curated1
Sequence conflicti113D → G in AAB82651 (PubMed:9349823).Curated1
Sequence conflicti166L → P in AAB82651 (PubMed:9349823).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_02447167R → K. Corresponds to variant dbSNP:rs197922Ensembl.1
Natural variantiVAR_065833144G → W in EPM6; no effect on protein stability; loss of localization to the cis-Golgi network membrane; loss of function; unable to rescue the yeast strain lacking the ortholog Bos1. 1 PublicationCorresponds to variant dbSNP:rs387906881Ensembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_043200160 – 212GTQKK…VQYLT → VGSLLGDREKASCFSLIQQF SNCVYILITCPQIVIF in isoform 3. 2 PublicationsAdd BLAST53
Alternative sequenceiVSP_001829196 – 212GMLLT…VQYLT → TQGSCQTAHFGGRSAGSS in isoform B. 1 PublicationAdd BLAST17

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
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.
CCDSiCCDS11507.1. [O14653-2]
CCDS42355.1. [O14653-1]
CCDS45719.1. [O14653-3]
RefSeqiNP_001012529.1. NM_001012511.2. [O14653-3]
NP_004278.2. NM_004287.4. [O14653-1]
NP_473363.1. NM_054022.3. [O14653-2]
UniGeneiHs.463278.
Hs.596195.

Genome annotation databases

EnsembliENST00000225567; ENSP00000225567; ENSG00000108433. [O14653-2]
ENST00000640051; ENSP00000492751; ENSG00000108433. [O14653-1]
ENST00000640621; ENSP00000492830; ENSG00000108433. [O14653-3]
GeneIDi9570.
KEGGihsa:9570.
UCSCiuc002iky.4. human. [O14653-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Similar proteinsi

Entry informationi

Entry nameiGOSR2_HUMAN
AccessioniPrimary (citable) accession number: O14653
Secondary accession number(s): D3DXJ5
, D3DXJ6, Q8N4B8, Q96DA5, Q9BZZ4
Entry historyiIntegrated into UniProtKB/Swiss-Prot: December 1, 2000
Last sequence update: August 30, 2002
Last modified: September 27, 2017
This is version 157 of the entry and version 2 of the sequence. See complete history.
Entry statusiReviewed (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.

Miscellaneousi

Keywords - Technical termi

3D-structure, Complete proteome, Direct protein sequencing, Reference proteome

Documents

  1. Human chromosome 17
    Human chromosome 17: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
  6. SIMILARITY comments
    Index of protein domains and families