Tbio GLMN Glomulin

Protein Summary

Description

Isoform 1: Regulatory component of cullin-RING-based SCF (SKP1-Cullin-F-box protein) E3 ubiquitin-protein ligase complexes (PubMed:22405651, PubMed:22748924). Inhibits E3 ubiquitin ligase activity by binding to RBX1 (via RING domain) and inhibiting its interaction with the E2 ubiquitin-conjugating enzyme CDC34 (PubMed:22405651, PubMed:22748924). Inhibits RBX1-mediated neddylation of CUL1 (PubMed:22405651). Required for normal stability and normal cellular levels of key components of SCF ubiquitin ligase complexes, including FBXW7, RBX1, CUL1, CUL2, CUL3, CUL4A, and thereby contributes to the regulation of CCNE1 and MYC levels (By similarity). Essential for normal development of the vasculature (PubMed:11845407). Contributes to the regulation of RPS6KB1 phosphorylation (PubMed:11571281). This gene encodes a phosphorylated protein that is a member of a Skp1-Cullin-F-box-like complex. The protein is essential for normal development of the vasculature and mutations in this gene have been associated with glomuvenous malformations, also called glomangiomas. Multiple splice variants encoding different isoforms have been found for this gene. [provided by RefSeq, Feb 2016]

Uniprot Accession IDs

• Q92990
• Q5VVC3
• Q9BVE8

Gene Name

• GLMN

Ensembl ID

• ENST00000370360
• ENSP00000359385
• ENSG00000174842
• ENST00000495106
• ENSP00000436829

Symbol

• FAP48
• FAP68
• VMGLOM
• FAP
• GVM
• GLML
• FAP48
• FAP68
• FKBPAP
• VMGLOM

Knowledge Table

Most Knowledge About	Knowledge Value (0 to 1 scale)
histone modification site profile	0.93
biological process	0.81
cell type or tissue	0.67
interacting protein	0.62
tissue sample	0.59

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: 52.37   (req: < 5)

Gene RIFs: 9   (req: <= 3)

Antibodies: 230   (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: 52.37   (req: >= 5)

Gene RIFs: 9   (req: > 3)

Antibodies: 230   (req: > 50)

- OR - satisfy the following criterion:

Gene Ontology Terms: 12

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

Related Tools

Target Illumination GWAS Analytics (TIGA)

TIGA scores and ranks GWAS discovered associations according to the quantity and quality of the evidence supporting the association.

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GENEVA

GENEVA (GENe Expression Variance Analysis) allows you to identify RNA-sequencing datasets from the Gene Expression Omnibus (GEO) that contain conditions modulating a gene or a gene signature.

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GlyGen

GlyGen is a data integration and dissemination project for carbohydrate and glycoconjugate related data.

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ARCHS4

ARCHS4 provides access to gene-function predictions based on RNA-seq co-expression, and gene expression levels across cell and tissues.

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Approved Drugs (0)

No approved drugs found

Active Ligands (0)

No active ligands found

Protein-Protein Interactions (362)

Explore Interacting Targets

1 – 10 of 362

• See Interactions on String-DB

CUL7

Tbio

Novelty:  0.02183958

p_int:  0.999999796

p_ni:  2.04e-7

Score:  0.984

Data Source:  BioPlex,STRINGDB

CUL9

Tbio

Novelty:  0.1104365

p_int:  0.999999694

p_ni:  3.05e-7

Score:  0.485

Data Source:  BioPlex,STRINGDB

ZSWIM6

Tbio

Novelty:  0.20377569

p_int:  0.999999469

p_ni:  1e-9

p_wrong:  5.3e-7

Score:  0.237

Data Source:  BioPlex,STRINGDB

ANKLE2

Tbio

Novelty:  0.0995907

p_int:  0.999994936

p_ni:  0.000005049

p_wrong:  1.5e-8

Score:  0.16

Data Source:  BioPlex,STRINGDB

FEM1B

Tbio

Novelty:  0.06746412

p_int:  0.999978942

p_ni:  0.000021058

Data Source:  BioPlex

TMEM143

Tdark

Novelty:  1.58941369

p_int:  0.999971456

p_ni:  0.00002802

p_wrong:  5.25e-7

Data Source:  BioPlex

KLHDC3

Tdark

Novelty:  0.63840156

p_int:  0.999958805

p_ni:  0.000041195

Data Source:  BioPlex

APPBP2

Tbio

Novelty:  0.14742368

p_int:  0.999939066

p_ni:  0.000060876

p_wrong:  5.8e-8

Data Source:  BioPlex

NT5E

Tchem

Family:  Enzyme

Novelty:  0.00083237

p_int:  0.999935766

p_ni:  0.000064234

Data Source:  BioPlex

ARRDC1

Tbio

Novelty:  0.10481621

p_int:  0.999906896

p_ni:  0.000093104

Data Source:  BioPlex

Nearest Tclin Targets

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

Pathways (4)

Reactome (4)

Adaptive Immune System (R-HSA-1280218)

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Data Source	Name	Explore in Pharos	Explore in Source
Reactome	Adaptive Immune System	894 targets	R-HSA-1280218
Reactome	Antigen processing: Ubiquitination & Proteasome degradation	307 targets	R-HSA-983168
Reactome	Class I MHC mediated antigen processing & presentation	437 targets	R-HSA-983169
Reactome	Immune System	2246 targets	R-HSA-168256

Name	Explore in Pharos	Explore in Source
Adaptive Immune System	894 targets	R-HSA-1280218
Antigen processing: Ubiquitination & Proteasome degradation	307 targets	R-HSA-983168
Class I MHC mediated antigen processing & presentation	437 targets	R-HSA-983169
Immune System	2246 targets	R-HSA-168256

Viral Interactions (0)

No viral interactions found

Gene Ontology Terms (18)

Functions (3)

Components (6)

Processes (9)

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1 – 3 of 3

GO Term	Evidence	Assigned by
ubiquitin protein ligase binding	Inferred from Direct Assay (IDA)	MGI
hepatocyte growth factor receptor binding	Inferred from Physical Interaction (IPI)	UniProtKB
ubiquitin-protein transferase inhibitor activity	Inferred from Genetic Interaction (IGI)	MGI

Disease Associations ()

No disease associations found

GWAS Traits (14)

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GWAS Trait	EFO ID	Study Count	SNP Count	Beta Count	Odds Ratio	Evidence (Mean Rank Score)	Provenance
monocyte percentage of leukocytes	EFO_0007989	2	5	6		98.9
monocyte count	EFO_0005091	1	2	2		95.7
granulocyte percentage of myeloid white cells	EFO_0007997	1	2	2		95
multiple sclerosis	EFO_0003885	3	3	0	1.2	91.6
lymphocyte percentage of leukocytes	EFO_0007993	2	2	2		83.1

• Explore on Target Illumination GWAS Analytics (TIGA)

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5

1 – 5 of 14

GWAS Trait	EFO ID	Beta Count	Odds Ratio	Evidence (Mean Rank Score)	Provenance
monocyte percentage of leukocytes	EFO_0007989	6		98.9
monocyte count	EFO_0005091	2		95.7
granulocyte percentage of myeloid white cells	EFO_0007997	2		95
multiple sclerosis	EFO_0003885	0	1.2	91.6
lymphocyte percentage of leukocytes	EFO_0007993	2		83.1

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UniProt Keyword Find Similar Targets

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3D-structure
Acetylation
Alternative splicing
Complete proteome
Disease mutation
Phosphoprotein
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Reference proteome

GWAS Trait Find Similar Targets

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C-reactive protein measurement
granulocyte percentage of myeloid white cells
leukocyte count
low density lipoprotein cholesterol measurement
lymphocyte count
lymphocyte percentage of leukocytes
monocyte count
monocyte percentage of leukocytes
multiple sclerosis
myeloid white cell count

MGI Phenotype Find Similar Targets

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cardiovascular system phenotype
cellular phenotype
embryo phenotype
growth/size/body region phenotype
homeostasis/metabolism phenotype
mortality/aging
nervous system phenotype

IDG Resources

No IDG generated resources found

Orthologs (14)

1 – 5 of 14

Species	Name	Source ID	Gene ID	OMA	EggNOG	Inparanoid
Chimp	glomulin, FKBP associated protein	VGNC:8326	457020
Macaque	glomulin, FKBP associated protein		706249
Mouse	glomulin, FKBP associated protein	MGI:2141180	170823
Rat	glomulin, FKBP associated protein	RGD:1588600	289437
Dog	glomulin, FKBP associated protein	VGNC:41264	479951

Species	Name	OMA	EggNOG	Inparanoid
Chimp	glomulin, FKBP associated protein
Macaque	glomulin, FKBP associated protein
Mouse	glomulin, FKBP associated protein
Rat	glomulin, FKBP associated protein
Dog	glomulin, FKBP associated protein

Publication Statistics

PubMed Score 52.37

PubMed score by year

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PubTator Score 31.01

PubTator score by year

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Related Publications

GeneRif Annotations (9)

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PMID	Text