Tbio ALG12 Dol-P-Man:Man(7)GlcNAc(2)-PP-Dol alpha-1,6-mannosyltransferase

Protein Summary

Description

Adds the eighth mannose residue in an alpha-1,6 linkage onto the dolichol-PP-oligosaccharide precursor (dolichol-PP-Man(7)GlcNAc(2)) required for protein glycosylation. This gene encodes a member of the glycosyltransferase 22 family. The encoded protein catalyzes the addition of the eighth mannose residue in an alpha-1,6 linkage onto the dolichol-PP-oligosaccharide precursor (dolichol-PP-Man(7)GlcNAc(2)) required for protein glycosylation. Mutations in this gene have been associated with congenital disorder of glycosylation type Ig (CDG-Ig)characterized by abnormal N-glycosylation. [provided by RefSeq, Jul 2008]

Uniprot Accession IDs

• Q9BV10
• A6PWM1
• Q4KMH4
• Q8NG10
• Q96AA4

Gene Name

• ALG12

Ensembl ID

• ENST00000330817
• ENSP00000333813
• ENSG00000182858

Symbol

• CDG1G
• ECM39
• hALG12
• PP14673

Knowledge Table

Most Knowledge About	Knowledge Value (0 to 1 scale)
histone modification site profile	0.88
small molecule perturbation	0.67
cell line	0.65
cellular component	0.64
tissue sample	0.62

Protein Classes

PANTHER Classes

Protein / Transferase / Glycosyltransferase / Dol-p-man:man(7)glcnac(2)-pp-dol Alpha-1,6-mannosyltransferase

DTO Classes

Protein / Enzyme / Transferase / Glycosyltransferase / Dol-p-man:man(7)glcnac(2)-pp-dol Alpha-1,6-mannosyltransferase

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: 29.17   (req: < 5)

Gene RIFs: 2   (req: <= 3)

Antibodies: 88   (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: 29.17   (req: >= 5)

Gene RIFs: 2   (req: > 3)

Antibodies: 88   (req: > 50)

- OR - satisfy the following criterion:

Gene Ontology Terms: 6

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

Expression Data (0 Tissues)

tutorial

No expression data found

Protein Sequence and Structure

Residue Counts

Protein Sequence

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Related Tools (4)

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 (88)

Explore Interacting Targets

1 – 10 of 88

• See Interactions on String-DB

TCTN2

Tbio

Novelty:  0.11617528

p_int:  0.999831275

p_ni:  0.000168725

Data Source:  BioPlex

MPPE1

Tbio

Family:  Enzyme

Novelty:  0.16027847

p_int:  0.998921678

p_ni:  0.001050169

p_wrong:  0.000028153

Score:  0.252

Data Source:  BioPlex,STRINGDB

GGT7

Tbio

Family:  Enzyme

Novelty:  0.01374716

p_int:  0.991826762

p_ni:  0.006622988

p_wrong:  0.001550251

Score:  0.169

Data Source:  BioPlex,STRINGDB

WDR4

Tbio

Family:  Enzyme

Novelty:  0.06887397

p_int:  0.9548395

p_ni:  0.00064984

p_wrong:  0.04451066

Score:  0.261

Data Source:  BioPlex,STRINGDB

ASIC4

Tbio

Family:  IC

Novelty:  0.02912816

p_int:  0.914628793

p_ni:  0.000815883

p_wrong:  0.084555324

Data Source:  BioPlex

SLC39A12

Tbio

Family:  Transporter

Novelty:  0.09127395

p_int:  0.849619137

p_ni:  0.000614592

p_wrong:  0.149766271

Data Source:  BioPlex

PI4K2A

Tbio

Family:  Kinase

Novelty:  0.03506675

p_int:  0.802158552

p_ni:  0.000144245

p_wrong:  0.197697203

Data Source:  BioPlex

NUP35

Tbio

Novelty:  0.0355102

p_int:  0.756819486

p_ni:  0.243180514

Score:  0.189

Data Source:  BioPlex,STRINGDB

ALG9

Tbio

Family:  Enzyme

Novelty:  0.02975572

Score:  0.995

Data Source:  STRINGDB

ALG3

Tbio

Family:  Enzyme

Novelty:  0.0159047

Score:  0.975

Data Source:  STRINGDB

Nearest Tclin Targets

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

Pathways (13)

Reactome (8)

KEGG (3)

UniProt (1)

WikiPathways (1)

Asparagine N-linked glycosylation (R-HSA-446203)

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Data Source	Name	Explore in Pharos	Explore in Source
Reactome	Asparagine N-linked glycosylation	286 targets	R-HSA-446203
Reactome	Biosynthesis of the N-glycan precursor (dolichol lipid-linked oligosaccharide, LLO) and transfer to a nascent protein	78 targets	R-HSA-446193
Reactome	Defective ALG12 causes ALG12-CDG (CDG-1g)	1 targets	R-HSA-4720489
Reactome	Disease	1105 targets	R-HSA-1643685
Reactome	Diseases associated with N-glycosylation of proteins	17 targets	R-HSA-3781860

Name	Explore in Pharos	Explore in Source
Asparagine N-linked glycosylation	286 targets	R-HSA-446203
Biosynthesis of the N-glycan precursor (dolichol lipid-linked oligosaccharide, LLO) and transfer to a nascent protein	78 targets	R-HSA-446193
Defective ALG12 causes ALG12-CDG (CDG-1g)	1 targets	R-HSA-4720489
Disease	1105 targets	R-HSA-1643685
Diseases associated with N-glycosylation of proteins	17 targets	R-HSA-3781860

Viral Interactions (0)

No viral interactions found

Gene Ontology Terms (11)

Functions (3)

Components (5)

Processes (3)

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Items per page:

10

1 – 3 of 3

GO Term	Evidence	Assigned by
mannosyltransferase activity	Inferred from Biological aspect of Ancestor (IBA)	GO_Central
dol-P-Man:Man(7)GlcNAc(2)-PP-Dol alpha-1,6-mannosyltransferase activity	Inferred from Electronic Annotation (IEA)	UniProtKB-EC
dolichyl-pyrophosphate Man7GlcNAc2 alpha-1,6-mannosyltransferase activity	Inferred from Electronic Annotation (IEA)	InterPro

Disease Associations (null)

No disease associations found

GWAS Traits (10)

• Explore on Target Illumination GWAS Analytics (TIGA)

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5

1 – 5 of 10

GWAS Trait	EFO ID	Study Count	SNP Count	Beta Count	Odds Ratio	Evidence (Mean Rank Score)	Provenance
type II diabetes mellitus	EFO_0001360	5	4	2	1	86.6
mean platelet volume	EFO_0004584	2	2	2		80.4
platelet count	EFO_0004309	1	1	1		70.5
heel bone mineral density	EFO_0009270	2	2	2		68.8
sex hormone-binding globulin measurement	EFO_0004696	4	3	6		65.6

• Explore on Target Illumination GWAS Analytics (TIGA)

Items per page:

5

1 – 5 of 10

GWAS Trait	EFO ID	Beta Count	Odds Ratio	Evidence (Mean Rank Score)	Provenance
type II diabetes mellitus	EFO_0001360	2	1	86.6
mean platelet volume	EFO_0004584	2		80.4
platelet count	EFO_0004309	1		70.5
heel bone mineral density	EFO_0009270	2		68.8
sex hormone-binding globulin measurement	EFO_0004696	6		65.6

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UniProt Keyword Find Similar Targets

No Header	No Header
Complete proteome
Congenital disorder of glycosylation
Disease mutation
Endoplasmic reticulum
Glycosyltransferase
Membrane
Polymorphism
Reference proteome
Transferase
Transmembrane

GWAS Trait Find Similar Targets

No Header	No Header
alkaline phosphatase measurement
apolipoprotein A 1 measurement
birth weight
heel bone mineral density
mean platelet volume
platelet count
pulse pressure measurement
sex hormone-binding globulin measurement
type II diabetes mellitus
ulcerative colitis

IDG Resources

No IDG generated resources found

Orthologs (14)

1 – 5 of 14

Species	Name	Source ID	Gene ID	OMA	EggNOG	Inparanoid
Chimp	ALG12, alpha-1,6-mannosyltransferase	VGNC:9921	470247
Macaque	ALG12, alpha-1,6-mannosyltransferase		715172
Mouse	asparagine-linked glycosylation 12 (alpha-1,6-mannosyltransferase)	MGI:2385025	223774
Rat	ALG12, alpha-1,6-mannosyltransferase	RGD:1304826	315212
Dog	ALG12, alpha-1,6-mannosyltransferase	VGNC:37795	481196

Species	Name	OMA	EggNOG	Inparanoid
Chimp	ALG12, alpha-1,6-mannosyltransferase
Macaque	ALG12, alpha-1,6-mannosyltransferase
Mouse	asparagine-linked glycosylation 12 (alpha-1,6-mannosyltransferase)
Rat	ALG12, alpha-1,6-mannosyltransferase
Dog	ALG12, alpha-1,6-mannosyltransferase

Publication Statistics

PubMed Score 29.17

PubMed score by year

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PubTator Score 8.12

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Related Publications

Text Mined References (14)

GeneRif Annotations (2)

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10

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PMID	Year	Title