Tbio GEMIN5 Gem-associated protein 5

Protein Summary

Description

Required for the assembly of the SMN complex that plays a catalyst role in the assembly of small nuclear ribonucleoproteins (snRNPs), the building blocks of the spliceosome (PubMed:16857593, PubMed:18984161, PubMed:20513430). 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. 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 (PubMed:18984161). Dissociation by the SMN complex of CLNS1A from the trapped Sm proteins and their transfer to an SMN-Sm complex triggers the assembly of core snRNPs and their transport to the nucleus (PubMed:18984161). GEMIN5 acts as the snRNA-binding protein of the SMN complex (PubMed:11714716, PubMed:16857593, PubMed:19377484, PubMed:19750007, PubMed:20513430, PubMed:27834343, PubMed:27881600, PubMed:27881601). Binds to the 7-methylguanosine cap of RNA molecules (PubMed:19750007, PubMed:27834343, PubMed:27881600, PubMed:27881601, Ref.25). Binds to the 3'-UTR of SMN1 mRNA and regulates its translation; does not affect mRNA stability (PubMed:25911097). May play a role in the regulation of protein synthesis via its interaction with ribosomes (PubMed:27507887). This gene encodes a WD repeat protein that is a component of the survival of motor neurons (SMN) complex. The SMN complex plays a critical role in mRNA splicing through the assembly of spliceosomal small nuclear ribonucleoproteins (snRNPs), and may also mediate the assembly and transport of other classes of ribonucleoproteins. The encoded protein is the snRNA-binding component of the SMN complex. Dysregulation of this gene may play a role in alternative mRNA splicing and tumor cell motility. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Nov 2011]

Uniprot Accession IDs

• Q8TEQ6
• Q14CV0
• Q8WWV4
• Q969W4
• Q9H9K3
• Q9UFI5
• Gemin5

Gene Name

• GEMIN5

Ensembl ID

• ENST00000285873
• ENSP00000285873
• ENSG00000082516

Symbol

• GEMIN-5

Knowledge Table

Most Knowledge About	Knowledge Value (0 to 1 scale)
protein domain	0.85
ligand (protein) perturbation	0.83
interacting protein	0.82
kinase perturbation	0.81
microRNA	0.7

Protein Classes

No PANTHER Classes or DTO Classes found

IDG Development Level Summary

Tdark

These are targets about which virtually nothing is known. They do not have known drug or small molecule activities
- AND - satisfy two or more of the following criteria:

Pubmed score: 31.24   (req: < 5)

Gene RIFs: 17   (req: <= 3)

Antibodies: 64   (req: <= 50)

Tbio

These targets do not have known drug or small molecule activities
- AND - satisfy two or more of the following criteria:

Pubmed score: 31.24   (req: >= 5)

Gene RIFs: 17   (req: > 3)

Antibodies: 64   (req: > 50)

- OR - satisfy the following criterion:

Gene Ontology Terms: 14

Tchem

Target has at least one ChEMBL compound with an activity cutoff of < 30 nM - AND - satisfies the preceding conditions

Active Ligand: 0

Tclin

Target has at least one approved drug - AND - satisfies the preceding conditions

Active Drug: 0

Protein Sequence and Structure

Residue Counts

Protein Sequence

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Expression Data (0 Tissues)

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No expression data found

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Target Illumination GWAS Analytics (TIGA)

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GENEVA

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GlyGen

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ARCHS4

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Approved Drugs (0)

No approved drugs found

Active Ligands (0)

No active ligands found

Protein-Protein Interactions (124)

Explore Interacting Targets

1 – 10 of 124

• See Interactions on String-DB

SNRPA1

Tbio

Novelty:  0.01232044

p_int:  0.99999161

p_ni:  0.00000839

Score:  0.766

Data Source:  BioPlex,STRINGDB

GEMIN7

Tbio

Novelty:  0.04835353

p_int:  0.999991422

p_ni:  0.000008578

Score:  0.985

Data Source:  BioPlex,STRINGDB

GAR1

Tbio

Novelty:  0.26091307

p_int:  0.999990493

p_ni:  0.000009507

Score:  0.509

Data Source:  BioPlex,STRINGDB

SNRPB2

Tbio

Novelty:  0.17219587

p_int:  0.999962651

p_ni:  0.000037349

Data Source:  BioPlex

AKR1D1

Tbio

Family:  Enzyme

Novelty:  0.01264297

p_int:  0.999908165

p_ni:  0.000091835

Score:  0.228

Data Source:  BioPlex,STRINGDB

DDX20

Tbio

Family:  Enzyme

Novelty:  0.01854078

p_int:  0.999873533

p_ni:  0.000126467

Score:  0.995

Data Source:  BioPlex,STRINGDB

SNRPB

Tbio

Novelty:  0.01503535

p_int:  0.999800788

p_ni:  0.000199212

Score:  0.956

Data Source:  BioPlex,STRINGDB

SNRNP70

Tbio

Novelty:  0.00116631

p_int:  0.99971712

p_ni:  0.00028288

Score:  0.651

Data Source:  BioPlex,STRINGDB

STRAP

Tbio

Family:  Enzyme

Novelty:  0.0336013

p_int:  0.999699475

p_ni:  0.000300525

Score:  0.985

Data Source:  BioPlex,STRINGDB

SNRPN

Tbio

Novelty:  0.002157

p_int:  0.998828479

p_ni:  0.001171521

Score:  0.315

Data Source:  BioPlex,STRINGDB

Nearest Tclin Targets

Nearest Tclin calculations are only available for targets with KEGG Pathway annotations.

Pathways (4)

Reactome (3)

KEGG (1)

Metabolism of RNA (R-HSA-8953854)

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Data Source	Name	Explore in Pharos	Explore in Source
Reactome	Metabolism of RNA	686 targets	R-HSA-8953854
Reactome	Metabolism of non-coding RNA	53 targets	R-HSA-194441
Reactome	snRNP Assembly	53 targets	R-HSA-191859

Name	Explore in Pharos	Explore in Source
Metabolism of RNA	686 targets	R-HSA-8953854
Metabolism of non-coding RNA	53 targets	R-HSA-194441
snRNP Assembly	53 targets	R-HSA-191859

Viral Interactions (0)

No viral interactions found

Gene Ontology Terms (23)

Functions (8)

Components (9)

Processes (6)

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1 – 8 of 8

GO Term	Evidence	Assigned by
mRNA 3'-UTR binding	Inferred from Direct Assay (IDA)	UniProtKB
ribosome binding	Inferred from Direct Assay (IDA)	UniProtKB
RNA 7-methylguanosine cap binding	Inferred from Direct Assay (IDA)	UniProtKB
snRNA binding	Inferred from Direct Assay (IDA)	UniProtKB
U1 snRNA binding	Inferred from Direct Assay (IDA)	UniProtKB
U4 snRNA binding	Inferred from Direct Assay (IDA)	UniProtKB
U4atac snRNA binding	Inferred from Direct Assay (IDA)	UniProtKB
RNA binding	Inferred from High Throughput Direct Assay (HDA)	UniProtKB

Disease Associations ()

No disease associations found

GWAS Traits (4)

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1 – 4 of 4

GWAS Trait	EFO ID	Study Count	SNP Count	Beta Count	Odds Ratio	Evidence (Mean Rank Score)	Provenance
reticulocyte measurement	EFO_0010700	2	1	2		62.1
reticulocyte count	EFO_0007986	2	2	2		50.4
mean corpuscular hemoglobin	EFO_0004527	1	1	1		13.3
mean corpuscular volume	EFO_0004526	1	1	1		8.1

• Explore on Target Illumination GWAS Analytics (TIGA)

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5

1 – 4 of 4

GWAS Trait	EFO ID	Beta Count	Odds Ratio	Evidence (Mean Rank Score)	Provenance
reticulocyte measurement	EFO_0010700	2		62.1
reticulocyte count	EFO_0007986	2		50.4
mean corpuscular hemoglobin	EFO_0004527	1		13.3
mean corpuscular volume	EFO_0004526	1		8.1

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UniProt Keyword Find Similar Targets

No Header	No Header
3D-structure
Coiled coil
Complete proteome
Cytoplasm
Direct protein sequencing
Isopeptide bond
mRNA processing
mRNA splicing
Nucleus
Phosphoprotein

GWAS Trait Find Similar Targets

No Header	No Header
mean corpuscular hemoglobin
mean corpuscular volume
reticulocyte count
reticulocyte measurement

MGI Phenotype Find Similar Targets

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mortality/aging

IDG Resources

No IDG generated resources found

Orthologs (15)

1 – 5 of 15

Species	Name	Source ID	Gene ID	OMA	EggNOG	Inparanoid
Chimp	gem nuclear organelle associated protein 5	VGNC:6878	471715
Macaque	gem nuclear organelle associated protein 5		714864
Mouse	gem nuclear organelle associated protein 5	MGI:2449311	216766
Rat	gem (nuclear organelle) associated protein 5	RGD:1586275	691231
Dog	gem nuclear organelle associated protein 5	VGNC:41175	479321

Species	Name	OMA	EggNOG	Inparanoid
Chimp	gem nuclear organelle associated protein 5
Macaque	gem nuclear organelle associated protein 5
Mouse	gem nuclear organelle associated protein 5
Rat	gem (nuclear organelle) associated protein 5
Dog	gem nuclear organelle associated protein 5

Publication Statistics

PubMed Score 31.24

PubMed score by year

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PubTator Score 20.52

PubTator score by year

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Related Publications

Text Mined References (32)

GeneRif Annotations (17)

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PMID	Year	Title