Q8WXD5 · GEMI6_HUMAN
- ProteinGem-associated protein 6
- GeneGEMIN6
- StatusUniProtKB reviewed (Swiss-Prot)
- Organism
- Amino acids167 (go to sequence)
- Protein existenceEvidence at protein level
- Annotation score5/5
Function
function
The SMN complex catalyzes the assembly of small nuclear ribonucleoproteins (snRNPs), the building blocks of the spliceosome, and thereby plays an important role in the splicing of cellular pre-mRNAs. Most spliceosomal snRNPs contain a common set of Sm proteins SNRPB, SNRPD1, SNRPD2, SNRPD3, SNRPE, SNRPF and SNRPG that assemble in a heptameric protein ring on the Sm site of the small nuclear RNA to form the core snRNP (Sm core). In the cytosol, the Sm proteins SNRPD1, SNRPD2, SNRPE, SNRPF and SNRPG are trapped in an inactive 6S pICln-Sm complex by the chaperone CLNS1A that controls the assembly of the core snRNP. To assemble core snRNPs, the SMN complex accepts the trapped 5Sm proteins from CLNS1A forming an intermediate. Binding of snRNA inside 5Sm triggers eviction of the SMN complex, thereby allowing binding of SNRPD3 and SNRPB to complete assembly of the core snRNP.
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 | |||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
Aspect | Term | |
---|---|---|
Cellular Component | cytoplasm | |
Cellular Component | cytosol | |
Cellular Component | Gemini of coiled bodies | |
Cellular Component | nuclear body | |
Cellular Component | nucleoplasm | |
Cellular Component | SMN complex | |
Cellular Component | SMN-Sm protein complex | |
Molecular Function | RNA binding | |
Biological Process | mRNA splicing, via spliceosome | |
Biological Process | spliceosomal complex assembly | |
Biological Process | spliceosomal snRNP assembly |
Keywords
- Biological process
Enzyme and pathway databases
Names & Taxonomy
Protein names
- Recommended nameGem-associated protein 6
- Short namesGemin-6
- Alternative names
Gene names
Organism names
- Organism
- Taxonomic lineageEukaryota > Metazoa > Chordata > Craniata > Vertebrata > Euteleostomi > Mammalia > Eutheria > Euarchontoglires > Primates > Haplorrhini > Catarrhini > Hominidae > Homo
Accessions
- Primary accessionQ8WXD5
- Secondary accessions
Proteomes
Organism-specific databases
Subcellular Location
UniProt Annotation
GO Annotation
Note: Found both in the nucleoplasm and in nuclear bodies called gems (Gemini of Cajal bodies) that are often in proximity to Cajal (coiled) bodies. Also found in the cytoplasm.
Keywords
- Cellular component
Disease & Variants
Features
Showing features for natural variant.
Type | ID | Position(s) | Description | |||
---|---|---|---|---|---|---|
Natural variant | VAR_020391 | 140 | in dbSNP:rs1056104 | |||
Sequence: G → D |
Variants
We now provide the "Disease & Variants" viewer in its own tab.
The viewer provides 246 variants from UniProt as well as other sources including ClinVar and dbSNP.
Organism-specific databases
Miscellaneous
Genetic variation databases
PTM/Processing
Features
Showing features for chain, modified residue, modified residue (large scale data).
Type | ID | Position(s) | Source | Description | |||
---|---|---|---|---|---|---|---|
Chain | PRO_0000087460 | 1-167 | UniProt | Gem-associated protein 6 | |||
Sequence: MSEWMKKGPLEWQDYIYKEVRVTASEKNEYKGWVLTTDPVSANIVLVNFLEDGSMSVTGIMGHAVQTVETMNEGDHRVREKLMHLFTSGDCKAYSPEDLEERKNSLKKWLEKNHIPITEQGDAPRTLCVAGVLTIDPPYGPENCSSSNEIILSRVQDLIEGHLTASQ | |||||||
Modified residue | 95 | UniProt | Phosphoserine | ||||
Sequence: S | |||||||
Modified residue (large scale data) | 95 | PRIDE | Phosphoserine | ||||
Sequence: S | |||||||
Modified residue | 166 | UniProt | Phosphoserine | ||||
Sequence: S | |||||||
Modified residue (large scale data) | 166 | PRIDE | Phosphoserine | ||||
Sequence: S |
Keywords
- PTM
Proteomic databases
PTM databases
Expression
Interaction
Subunit
Part of the core SMN complex that contains SMN1, GEMIN2/SIP1, DDX20/GEMIN3, GEMIN4, GEMIN5, GEMIN6, GEMIN7, GEMIN8 and STRAP/UNRIP (PubMed:11748230, PubMed:12065586, PubMed:15939020, PubMed:16314521, PubMed:17178713, PubMed:18984161).
Part of the SMN-Sm complex that contains SMN1, GEMIN2/SIP1, DDX20/GEMIN3, GEMIN4, GEMIN5, GEMIN6, GEMIN7, GEMIN8, STRAP/UNRIP and the Sm proteins SNRPB, SNRPD1, SNRPD2, SNRPD3, SNRPE, SNRPF and SNRPG (PubMed:16314521, PubMed:18984161).
Interacts with GEMIN7; the interaction is direct (PubMed:12065586, PubMed:15939020, PubMed:17178713, PubMed:33754639).
Interacts with GEMIN8; the interaction is direct (PubMed:33754639).
Interacts with SNRPB, SNRPD2, SNRPD3 and SNRPE; the interaction is direct (PubMed:11748230, PubMed:15939020).
Part of the SMN-Sm complex that contains SMN1, GEMIN2/SIP1, DDX20/GEMIN3, GEMIN4, GEMIN5, GEMIN6, GEMIN7, GEMIN8, STRAP/UNRIP and the Sm proteins SNRPB, SNRPD1, SNRPD2, SNRPD3, SNRPE, SNRPF and SNRPG (PubMed:16314521, PubMed:18984161).
Interacts with GEMIN7; the interaction is direct (PubMed:12065586, PubMed:15939020, PubMed:17178713, PubMed:33754639).
Interacts with GEMIN8; the interaction is direct (PubMed:33754639).
Interacts with SNRPB, SNRPD2, SNRPD3 and SNRPE; the interaction is direct (PubMed:11748230, PubMed:15939020).
Binary interactions
Type | Entry 1 | Entry 2 | Number of experiments | Intact | |
---|---|---|---|---|---|
BINARY | Q8WXD5 | ACOT11 Q8WXI4-2 | 3 | EBI-752301, EBI-17721098 | |
BINARY | Q8WXD5 | DDIT4L Q96D03 | 3 | EBI-752301, EBI-742054 | |
BINARY | Q8WXD5 | GEMIN7 Q9H840 | 23 | EBI-752301, EBI-715455 | |
BINARY | Q8WXD5 | RASL11B Q9BPW5 | 3 | EBI-752301, EBI-745409 | |
BINARY | Q8WXD5 | SNRPD1 P62314 | 2 | EBI-752301, EBI-372177 | |
BINARY | Q8WXD5 | SNRPD2 P62316 | 2 | EBI-752301, EBI-297993 | |
BINARY | Q8WXD5 | SNRPE P62304 | 5 | EBI-752301, EBI-348082 | |
BINARY | Q8WXD5 | SNRPF P62306 | 5 | EBI-752301, EBI-356900 | |
BINARY | Q8WXD5 | SNRPG P62308 | 3 | EBI-752301, EBI-624585 | |
BINARY | Q8WXD5 | STRAP Q9Y3F4 | 6 | EBI-752301, EBI-727414 | |
BINARY | Q8WXD5 | TOX4 O94842 | 3 | EBI-752301, EBI-948613 | |
XENO | Q8WXD5 | vpr P12520 | 3 | EBI-752301, EBI-6164519 |
Protein-protein interaction databases
Miscellaneous
Structure
Family & Domains
Features
Showing features for domain.
Type | ID | Position(s) | Description | |||
---|---|---|---|---|---|---|
Domain | 7-74 | Sm | ||||
Sequence: KGPLEWQDYIYKEVRVTASEKNEYKGWVLTTDPVSANIVLVNFLEDGSMSVTGIMGHAVQTVETMNEG | ||||||
Domain | 69-167 | AD | ||||
Sequence: ETMNEGDHRVREKLMHLFTSGDCKAYSPEDLEERKNSLKKWLEKNHIPITEQGDAPRTLCVAGVLTIDPPYGPENCSSSNEIILSRVQDLIEGHLTASQ |
Phylogenomic databases
Family and domain databases
Sequence
- Sequence statusComplete
- Length167
- Mass (Da)18,824
- Last updated2002-03-01 v1
- Checksum908EEFDA73A0C07F
Computationally mapped potential isoform sequences
There are 2 potential isoforms mapped to this entry
Sequence caution
Keywords
- Technical term
Sequence databases
Nucleotide Sequence | Protein Sequence | Molecule Type | Status | |
---|---|---|---|---|
AF453443 EMBL· GenBank· DDBJ | AAL48292.1 EMBL· GenBank· DDBJ | mRNA | ||
AK027112 EMBL· GenBank· DDBJ | BAB15660.1 EMBL· GenBank· DDBJ | mRNA | Frameshift | |
AK315627 EMBL· GenBank· DDBJ | BAG37995.1 EMBL· GenBank· DDBJ | mRNA | ||
AC018693 EMBL· GenBank· DDBJ | AAY24255.1 EMBL· GenBank· DDBJ | Genomic DNA | ||
CH471053 EMBL· GenBank· DDBJ | EAX00360.1 EMBL· GenBank· DDBJ | Genomic DNA | ||
BC018195 EMBL· GenBank· DDBJ | AAH18195.1 EMBL· GenBank· DDBJ | mRNA |