O14653 · GOSR2_HUMAN
- ProteinGolgi SNAP receptor complex member 2
- GeneGOSR2
- StatusUniProtKB reviewed (Swiss-Prot)
- Organism
- Amino acids212 (go to sequence)
- Protein existenceEvidence at protein level
- Annotation score5/5
Function
function
Involved in transport of proteins from the cis/medial-Golgi to the trans-Golgi network.
GO annotations
all annotations | all molecular function | virus receptor activity | dna binding | rna binding | cytoskeletal motor activity | catalytic activity | gtpase activity | structural molecule activity | transporter activity | cytoskeletal protein binding | lipid binding | cyclase activity | antioxidant activity | oxidoreductase activity | transferase activity | hydrolase activity | lyase activity | isomerase activity | ligase activity | protein tag activity | cargo receptor activity | histone binding | protein folding chaperone | translation regulator activity | nutrient reservoir activity | receptor ligand activity | molecular transducer activity | molecular adaptor activity | toxin activity | cell adhesion mediator activity | molecular function regulator activity | virus coreceptor activity | catalytic activity, acting on a protein | catalytic activity, acting on dna | catalytic activity, acting on rna | molecular carrier activity | transcription regulator activity | general transcription initiation factor activity | molecular sensor activity | molecular sequestering activity | atp-dependent activity | other molecular function | all biological process | mitotic cell cycle | cytokinesis | cytoplasmic translation | immune system process | muscle system process | circulatory system process | renal system process | respiratory system process | carbohydrate metabolic process | generation of precursor metabolites and energy | dna replication | dna repair | dna recombination | chromatin organization | dna-templated transcription | regulation of dna-templated transcription | trna metabolic process | protein folding | protein glycosylation | amino acid metabolic process | modified amino acid metabolic process | lipid metabolic process | vitamin metabolic process | sulfur compound metabolic process | intracellular protein transport | nucleocytoplasmic transport | autophagy | inflammatory response | mitochondrion organization | cytoskeleton organization | microtubule-based movement | peroxisome organization | lysosome organization | chromosome segregation | cell adhesion | establishment or maintenance of cell polarity | programmed cell death | photosynthesis | mrna metabolic process | snrna metabolic process | vesicle-mediated transport | reproductive process | digestive system process | signaling | cell differentiation | protein catabolic process | extracellular matrix organization | regulatory ncrna-mediated gene silencing | telomere organization | cell junction organization | wound healing | ribosome biogenesis | cilium organization | anatomical structure development | cell motility | nervous system process | endocrine process | protein maturation | transmembrane transport | nucleobase-containing small molecule metabolic process | hepaticobiliary system process | membrane organization | protein-containing complex assembly | cell wall organization or biogenesis | nitrogen cycle metabolic process | protein localization to plasma membrane | defense response to other organism | detoxification | meiotic nuclear division | mitotic nuclear division | mitochondrial gene expression | carbohydrate derivative metabolic process | other biological process | all cellular component | nuclear chromosome | extracellular region | extracellular space | cell wall | nucleus | nuclear envelope | nucleoplasm | chromosome | nucleolus | mitochondrion | lysosome | endosome | vacuole | peroxisome | endoplasmic reticulum | golgi apparatus | lipid droplet | microtubule organizing center | cytosol | ribosome | cytoskeleton | plasma membrane | cilium | plastid | thylakoid | external encapsulating structure | extracellular matrix | cytoplasmic vesicle | organelle | other cellular component | |||
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Aspect | Term | |
---|---|---|
Cellular Component | cytosol | |
Cellular Component | endoplasmic reticulum membrane | |
Cellular Component | endoplasmic reticulum-Golgi intermediate compartment membrane | |
Cellular Component | ER to Golgi transport vesicle membrane | |
Cellular Component | Golgi apparatus | |
Cellular Component | Golgi membrane | |
Cellular Component | late endosome membrane | |
Cellular Component | membrane | |
Cellular Component | nucleoplasm | |
Cellular Component | SNARE complex | |
Molecular Function | SNAP receptor activity | |
Molecular Function | SNARE binding | |
Biological Process | intra-Golgi vesicle-mediated transport | |
Biological Process | protein transport | |
Biological Process | vesicle fusion |
Keywords
- Biological process
Enzyme and pathway databases
Names & Taxonomy
Protein names
- Recommended nameGolgi SNAP receptor complex member 2
- Alternative names
Gene names
Organism names
- Organism
- Taxonomic lineageEukaryota > Metazoa > Chordata > Craniata > Vertebrata > Euteleostomi > Mammalia > Eutheria > Euarchontoglires > Primates > Haplorrhini > Catarrhini > Hominidae > Homo
Accessions
- Primary accessionO14653
- Secondary accessions
Proteomes
Organism-specific databases
Subcellular Location
UniProt Annotation
GO Annotation
Golgi apparatus, cis-Golgi network membrane ; Single-pass type IV membrane protein
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.
Features
Showing features for topological domain, transmembrane.
Type | ID | Position(s) | Description | |||
---|---|---|---|---|---|---|
Topological domain | 1-190 | Cytoplasmic | ||||
Sequence: MDPLFQQTHKQVHEIQSCMGRLETADKQSVHIVENEIQASIDQIFSRLERLEILSSKEPPNKRQNARLRVDQLKYDVQHLQTALRNFQHRRHAREQQERQREELLSRTFTTNDSDTTIPMDESLQFNSSLQKVHNGMDDLILDGHNILDGLRTQRLTLKGTQKKILDIANMLGLSNTVMRLIEKRAFQDK | ||||||
Transmembrane | 191-211 | Helical; Anchor for type IV membrane protein | ||||
Sequence: YFMIGGMLLTCVVMFLVVQYL | ||||||
Topological domain | 212 | Vesicular | ||||
Sequence: T |
Keywords
- Cellular component
Disease & Variants
Involvement in disease
Epilepsy, progressive myoclonic 6 (EPM6)
- Note
- DescriptionA form of progressive myoclonic epilepsy, a clinically and genetically heterogeneous group of disorders defined by the combination of action and reflex myoclonus, other types of epileptic seizures, and progressive neurodegeneration and neurocognitive impairment. EPM6 is an autosomal recessive form 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 alsoMIM:614018
Natural variants in EPM6
Variant ID | Position(s) | Change | Description | |
---|---|---|---|---|
VAR_065833 | 144 | G>W | in EPM6 and MYOS; 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; dbSNP:rs387906881 |
Muscular dystrophy, congenital, with or without seizures (MYOS)
- Note
- DescriptionAn autosomal recessive muscular dystrophy characterized by hypotonia and elevated serum creatine kinase levels apparent from birth. Patients have progressive muscle weakness, areflexia, and may develop seizures in early childhood or have abnormal epileptiform findings on electroencephalogram studies.
- See alsoMIM:620166
Natural variants in MYOS
Variant ID | Position(s) | Change | Description | |
---|---|---|---|---|
VAR_087912 | 28-212 | missing | in MYOS | |
VAR_087913 | 107-212 | missing | in MYOS | |
VAR_065833 | 144 | G>W | in EPM6 and MYOS; 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; dbSNP:rs387906881 |
Features
Showing features for natural variant, mutagenesis.
Type | ID | Position(s) | Description | |||
---|---|---|---|---|---|---|
Natural variant | VAR_087912 | 28-212 | in MYOS | |||
Sequence: Missing | ||||||
Natural variant | VAR_024471 | 67 | in dbSNP:rs197922 | |||
Sequence: R → K | ||||||
Natural variant | VAR_087913 | 107-212 | in MYOS | |||
Sequence: Missing | ||||||
Mutagenesis | 118 | Loss of interaction with SEC24C. | ||||
Sequence: I → A | ||||||
Mutagenesis | 120 | Loss of interaction with SEC24C. | ||||
Sequence: M → A | ||||||
Natural variant | VAR_065833 | 144 | in EPM6 and MYOS; 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; dbSNP:rs387906881 | |||
Sequence: G → W |
Variants
We now provide the "Disease & Variants" viewer in its own tab.
The viewer provides 310 variants from UniProt as well as other sources including ClinVar and dbSNP.
Keywords
- Disease
Organism-specific databases
Miscellaneous
Genetic variation databases
PTM/Processing
Features
Showing features for modified residue, chain.
Type | ID | Position(s) | Description | |||
---|---|---|---|---|---|---|
Modified residue | 1 | N-acetylmethionine | ||||
Sequence: M | ||||||
Chain | PRO_0000212549 | 1-212 | Golgi SNAP receptor complex member 2 | |||
Sequence: MDPLFQQTHKQVHEIQSCMGRLETADKQSVHIVENEIQASIDQIFSRLERLEILSSKEPPNKRQNARLRVDQLKYDVQHLQTALRNFQHRRHAREQQERQREELLSRTFTTNDSDTTIPMDESLQFNSSLQKVHNGMDDLILDGHNILDGLRTQRLTLKGTQKKILDIANMLGLSNTVMRLIEKRAFQDKYFMIGGMLLTCVVMFLVVQYLT |
Keywords
- PTM
Proteomic databases
PTM databases
Expression
Interaction
Subunit
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).
Interacts with BET1 (PubMed:34779586).
Interacts (via IxM motif) with SEC24C and SEC24D; mediates GOSR2 packaging into COPII-coated vesicles (PubMed:18843296).
Interacts with BET1 (PubMed:34779586).
Binary interactions
Protein-protein interaction databases
Miscellaneous
Structure
Family & Domains
Features
Showing features for coiled coil, motif.
Type | ID | Position(s) | Description | |||
---|---|---|---|---|---|---|
Coiled coil | 61-107 | |||||
Sequence: NKRQNARLRVDQLKYDVQHLQTALRNFQHRRHAREQQERQREELLSR | ||||||
Motif | 118-120 | IxM motif; signal for cargo packaging into COPII-coated vesicles | ||||
Sequence: IPM |
Sequence similarities
Belongs to the GOSR2 family.
Keywords
- Domain
Phylogenomic databases
Family and domain databases
Sequence & Isoforms
- Sequence statusComplete
This entry describes 3 isoforms produced by Alternative splicing.
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.
- NameA
- Length212
- Mass (Da)24,775
- Last updated2002-08-30 v2
- Checksum4D5585CF858A610F
O14653-2
- NameB
- Differences from canonical
- 196-212: GMLLTCVVMFLVVQYLT → TQGSCQTAHFGGRSAGSS
O14653-3
- Name3
- Differences from canonical
- 160-212: GTQKKILDIANMLGLSNTVMRLIEKRAFQDKYFMIGGMLLTCVVMFLVVQYLT → VGSLLGDREKASCFSLIQQFSNCVYILITCPQIVIF
Computationally mapped potential isoform sequences
There are 33 potential isoforms mapped to this entry
Entry | Entry name | Gene name | Length | ||
---|---|---|---|---|---|
A0A1X7SBU8 | A0A1X7SBU8_HUMAN | GOSR2 | 194 | ||
A0A1W2PP28 | A0A1W2PP28_HUMAN | GOSR2 | 76 | ||
A0A1W2PPW8 | A0A1W2PPW8_HUMAN | GOSR2 | 163 | ||
A0A1W2PPP5 | A0A1W2PPP5_HUMAN | GOSR2 | 202 | ||
A0A1W2PQ06 | A0A1W2PQ06_HUMAN | GOSR2 | 141 | ||
A0A1W2PQ12 | A0A1W2PQ12_HUMAN | GOSR2 | 53 | ||
A0A1W2PQ38 | A0A1W2PQ38_HUMAN | GOSR2 | 125 | ||
A0A1W2PQ77 | A0A1W2PQ77_HUMAN | GOSR2 | 164 | ||
A0A1W2PPG1 | A0A1W2PPG1_HUMAN | GOSR2 | 210 | ||
A0A1W2PPG5 | A0A1W2PPG5_HUMAN | GOSR2 | 199 | ||
A0A1W2PPJ0 | A0A1W2PPJ0_HUMAN | GOSR2 | 157 | ||
A0A1W2PPE0 | A0A1W2PPE0_HUMAN | GOSR2 | 66 | ||
A0A1W2PNV3 | A0A1W2PNV3_HUMAN | GOSR2 | 153 | ||
A0A1W2PQQ4 | A0A1W2PQQ4_HUMAN | GOSR2 | 99 | ||
A0A1W2PQS3 | A0A1W2PQS3_HUMAN | GOSR2 | 93 | ||
A0A1W2PR23 | A0A1W2PR23_HUMAN | GOSR2 | 155 | ||
A0A1W2PQM3 | A0A1W2PQM3_HUMAN | GOSR2 | 214 | ||
A0A1W2PQP2 | A0A1W2PQP2_HUMAN | GOSR2 | 214 | ||
A0A1W2PR02 | A0A1W2PR02_HUMAN | GOSR2 | 165 | ||
A0A1W2PQE0 | A0A1W2PQE0_HUMAN | GOSR2 | 147 | ||
A0A1W2PRV0 | A0A1W2PRV0_HUMAN | GOSR2 | 196 | ||
A0A1W2PS81 | A0A1W2PS81_HUMAN | GOSR2 | 226 | ||
A0A1W2PRL0 | A0A1W2PRL0_HUMAN | GOSR2 | 194 | ||
A0A1W2PRP7 | A0A1W2PRP7_HUMAN | GOSR2 | 197 | ||
A0A1W2PS12 | A0A1W2PS12_HUMAN | GOSR2 | 192 | ||
A0A1W2PRC2 | A0A1W2PRC2_HUMAN | GOSR2 | 211 | ||
A0A1W2PRD0 | A0A1W2PRD0_HUMAN | GOSR2 | 108 | ||
A0A1W2PRE6 | A0A1W2PRE6_HUMAN | GOSR2 | 177 | ||
A0A1W2PRH7 | A0A1W2PRH7_HUMAN | GOSR2 | 42 | ||
I3NI02 | I3NI02_HUMAN | GOSR2 | 257 | ||
I3L4Z6 | I3L4Z6_HUMAN | GOSR2 | 210 | ||
I3L1K7 | I3L1K7_HUMAN | GOSR2 | 143 | ||
I3L0K1 | I3L0K1_HUMAN | GOSR2 | 197 |
Features
Showing features for sequence conflict, alternative sequence.
Type | ID | Position(s) | Description | |||
---|---|---|---|---|---|---|
Sequence conflict | 106 | in Ref. 1; AAB82651 | ||||
Sequence: S → C | ||||||
Sequence conflict | 113 | in Ref. 1; AAB82651 | ||||
Sequence: D → G | ||||||
Alternative sequence | VSP_043200 | 160-212 | in isoform 3 | |||
Sequence: GTQKKILDIANMLGLSNTVMRLIEKRAFQDKYFMIGGMLLTCVVMFLVVQYLT → VGSLLGDREKASCFSLIQQFSNCVYILITCPQIVIF | ||||||
Sequence conflict | 166 | in Ref. 1; AAB82651 | ||||
Sequence: L → P | ||||||
Alternative sequence | VSP_001829 | 196-212 | in isoform B | |||
Sequence: GMLLTCVVMFLVVQYLT → TQGSCQTAHFGGRSAGSS |
Keywords
- Coding sequence diversity
- Technical term
Sequence databases
Nucleotide Sequence | Protein Sequence | Molecule Type | Status | |
---|---|---|---|---|
AF007548 EMBL· GenBank· DDBJ | AAB82651.1 EMBL· GenBank· DDBJ | mRNA | ||
AF229796 EMBL· GenBank· DDBJ | AAK01855.1 EMBL· GenBank· DDBJ | mRNA | ||
AK290890 EMBL· GenBank· DDBJ | BAF83579.1 EMBL· GenBank· DDBJ | mRNA | ||
AC005670 EMBL· GenBank· DDBJ | - | Genomic DNA | No translation available. | |
CH471231 EMBL· GenBank· DDBJ | EAW57694.1 EMBL· GenBank· DDBJ | Genomic DNA | ||
CH471231 EMBL· GenBank· DDBJ | EAW57695.1 EMBL· GenBank· DDBJ | Genomic DNA | ||
CH471231 EMBL· GenBank· DDBJ | EAW57699.1 EMBL· GenBank· DDBJ | Genomic DNA | ||
CH471231 EMBL· GenBank· DDBJ | EAW57700.1 EMBL· GenBank· DDBJ | Genomic DNA | ||
BC034762 EMBL· GenBank· DDBJ | AAH34762.1 EMBL· GenBank· DDBJ | mRNA | ||
BC009710 EMBL· GenBank· DDBJ | AAH09710.1 EMBL· GenBank· DDBJ | mRNA |