ALG3 - ALG3 alpha-1,3- mannosyltransferase Gene

Also Known as not; CDG1D; CDGS4; CDGS6; Not56; NOT56L; D16Ertd36e

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 10195

About ALG3

Cytogenetic location: 3q27.1 Genomic coordinates (GRCh38): 3:184,242,301-184,249,525 (from NCBI)

This gene has 14 transcripts (splice variants), 201 orthologues and is associated with 4 phenotypes. Ubiquitous expression in testis (RPKM 10.3), placenta (RPKM 9.7) and 25 other tissues.

Summary

This gene encodes a member of the ALG3 family. The encoded protein catalyses the addition of the first dol-P-Man derived mannose in an alpha 1,3 linkage to Man5GlcNAc2-PP-Dol. Defects in this gene have been associated with congenital disorder of glycosylation type Id (CDG-Id) characterized by abnormal N-glycosylation. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2008]

ALG3 Products (2)

mRNA	Protein	Name
NM_001006941.2	NP_001006942.1	dol-P-Man:Man(5)GlcNAc(2)-PP-Dol alpha-1,3-mannosyltransferase isoform d
NM_005787.6	NP_005778.1	dol-P-Man:Man(5)GlcNAc(2)-PP-Dol alpha-1,3-mannosyltransferase isoform a

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	References	Source
enables dol-P-Man:Man(5)GlcNAc(2)-PP-Dol alpha-1,3-mannosyltransferase activity	IDA IDA: Inferred from direct assay	10581255	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	21516116	GOA

Biological Process GO Annotation	Evidence	References	Source
involved in dolichol-linked oligosaccharide biosynthetic process	IDA IDA: Inferred from direct assay	10581255	GOA
involved in protein N-linked glycosylation	IDA IDA: Inferred from direct assay	10581255	GOA

Cellular Component GO Annotation	Evidence	References	Source
is active in endoplasmic reticulum membrane	IDA IDA: Inferred from direct assay	10581255	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

ALG3 Protein Structure

ALG3

0
100
200
300
400
438 a.a.

Protein Preferred Names	Protein Names
dol-P-Man:Man(5)GlcNAc(2)-PP-Dol alpha-1,3-mannosyltransferase	Not56-like protein

ALG3 Protein-protein interaction Information

Type	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	References
Intra	ALG3	Q92685	SERP1	Homo sapiens	Q9Y6X1	Validated Y2H	32296183
Intra	ALG3	Q92685	LRP1	Homo sapiens	Q07954	Y2H	29547901
Intra	ALG3	Q92685	LRP1	Homo sapiens	Q07954	Anti Bait CoIP	29547901
Intra	ALG3	Q92685	ARL13B	Homo sapiens	Q3SXY8	Y2H Prey Pooling	32296183
Intra	ALG3	Q92685	ARL13B	Homo sapiens	Q3SXY8	Y2H Array	32296183
Intra	ALG3	Q92685	SSMEM1	Homo sapiens	Q8WWF3	Y2H Array	32296183
Intra	ALG3	Q92685	SSMEM1	Homo sapiens	Q8WWF3	Y2H Prey Pooling	32296183
Intra	ALG3	Q92685	TMEM52B	Homo sapiens	Q4KMG9	Y2H Prey Pooling	32296183
Intra	ALG3	Q92685	TMEM52B	Homo sapiens	Q4KMG9	Y2H Array	32296183
Intra	ALG3	Q92685	OSBPL9	Homo sapiens	Q96SU4	Y2H	29547901
Intra	ALG3	Q92685	OSBPL9	Homo sapiens	Q96SU4	Anti Bait CoIP	29547901
Intra	ALG3	Q92685	OSBP	Homo sapiens	P22059	Y2H	29547901
Intra	ALG3	Q92685	OSBP	Homo sapiens	P22059	Anti Bait CoIP	29547901
Intra	ALG3	Q92685	SYPL1	Homo sapiens	Q16563	Anti Tag CoIP	29547901
Intra	ALG3	Q92685	SYPL1	Homo sapiens	Q16563	Anti Bait CoIP	29547901
Intra	ALG3	Q92685	SYPL1	Homo sapiens	Q16563	Y2H	29547901
Intra	ALG3	Q92685	CREB3	Homo sapiens	O43889	Anti Bait CoIP	29547901
Intra	ALG3	Q92685	CREB3	Homo sapiens	O43889	Y2H	21516116
Intra	ALG3	Q92685	CREB3	Homo sapiens	O43889	Anti Tag CoIP	29547901
Intra	ALG3	Q92685	CREB3	Homo sapiens	O43889-2	Y2H	29547901
Intra	ALG3	Q92685	CREB3	Homo sapiens	O43889-2	Y2H Array	25910212
Intra	ALG3	Q92685	CREB3	Homo sapiens	O43889-2	Validated Y2H	25910212
Intra	ALG3	Q92685	CREB3	Homo sapiens	O43889-2	Y2H Bait-Prey Pool	25910212
Intra	ALG3	Q92685	CD79A	Homo sapiens	P11912	Y2H Prey Pooling	32296183
Intra	ALG3	Q92685	CD79A	Homo sapiens	P11912	Y2H Array	32296183

Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases	Alias
Congenital Disorder Of Glycosylation, Type Id	CDG1D Congenital Disorder Of Glycosylation Id Congenital Disorder Of Glycosylation 1d Alg3-Cdg Cdg Id Cdgid Carbohydrate-Deficient Glycoprotein Syndrome, Type Iv, Formerly Cdgs4, Formerly Cdgs, Type Iv, Formerly Cdg Syndrome Type Id Cdg-Id Carbohydrate Deficient Glycoprotein Syndrome Type Id Congenital Disorder Of Glycosylation Type 1d Congenital Disorder Of Glycosylation Type Id Mannosyltransferase 6 Deficiency Carbohydrate-Deficient Glycoprotein Syndrome Type Iv Cdgs4 Glycosylation, Congenital Disorder Of, Type Id
Granulomatous Disease, Chronic, Autosomal Recessive, 2	Chronic Granulomatous Disease Due To Deficiency Of Ncf-2 CGD2 Ncf2 Deficiency P67-Phox Deficiency Autosomal Recessive Chronic Granulomatous Disease Cytochrome B-Positive Type Ii Granulomatous Disease, Chronic, Autosomal Recessive, Cytochrome B-Positive, Type 2 Granulomatous Disease, Chronic, Autosomal Recessive, Cytochrome B-Positive, Type Ii Cgd, Autosomal Recessive Cytochrome B-Positive, Type Ii Granulomatous Disease, Chronic, Due To Ncf2 Deficiency Neutrophil Cytosol Factor 2 Deficiency Chronic Granulomatous Disease 2, Autosomal Recessive Autosomal Recessive Chronic Granulomatous Disease 2 Cdg2 Deficiency Of Ncf2 Deficiency Of P67-Phox Chronic Granulomatous Disease Autosomal Recessive Cytochrome B-Positive Type Ii Deficiency Of Neutrophil Cytosol Factor 2 Avellino Corneal Dystrophy
Congenital Disorder Of Glycosylation, Type Iig	CDG2G Congenital Disorder Of Glycosylation Type Iig Cdg Iig Cdgiig Cdgii/Cog1 Cerebrocostomandibular-Like Syndrome Carbohydrate Deficient Glycoprotein Syndrome Type Iig Cdg-Iig Congenital Disorder Of Glycosylation, Type 2g Cog1-Cdg Cdg Syndrome Type Iig Congenital Disorder Of Glycosylation Type 2g Congenital Disorder Of Glycosylation 2g Cdg-Ii Caused By Cog1 Deficiency Glycosylation, Congenital Disorder Of, Type Iig
Congenital Disorder Of Glycosylation, Type Iip	CDG2P Tmem199-Cdg Cdg Iip Congenital Disorder Of Glycosylation Type Iip Cdgiip Carbohydrate Deficient Glycoprotein Syndrome Type Iip Cdg Syndrome Type Iip Congenital Disorder Of Glycosylation Type 2p Cdg-Iip Cdgiidp Congenital Disorder Of Glycosylation 2p
Congenital Disorder Of Glycosylation, Type Iio	CDG2O Ccdc115-Cdg Cdg Iio Congenital Disorder Of Glycosylation Type Iio Cdgiio Carbohydrate Deficient Glycoprotein Syndrome Type Iio Cdg Syndrome Type Iio Congenital Disorder Of Glycosylation Type 2o Cdg-Iio Cdgiido Congenital Disorder Of Glycosylation 2o Glycosylation, Congenital Disorder Of, Type Iio
Immunodeficiency 47	Congenital Disorder Of Glycosylation Type Ii CDG2E Congenital Disorder Of Glycosylation Type Iie IMD47 Cdg2s Cdg Iis Cdgiis Immunodeficiency And Hepatopathy With Or Without Neurologic Features Congenital Disorder Of Glycosylation, Type Ii CDG1I Congenital Disorder Of Glycosylation, Type Iie Cdg Iie Congenital Disorder Of Glycosylation Type 2e Congenital Disorder Of Glycosylation, Type Iis Cdg Ii Cdgii Cdgiie Carbohydrate Deficient Glycoprotein Syndrome Type Iie Cdg Syndrome Type Iie Congenital Disorder Of Glycosylation Ii Congenital Disorder Of Glycosylation 1i Cdg-Iie Alg2-Cdg Cdg-Ii Glycosylation, Congenital Disorder Of, Type Ii Cdgiide Congenital Disorder Of Glycosylation Type Iis Cog7-Cdg Cdg Syndrome Type Ii Carbohydrate Deficient Glycoprotein Syndrome Type Ii Congenital Disorder Of Glycosylation Type 1i Mannosyltransferase 2 Deficiency Congenital Disorder Of Glycosylation 2e Congenital Disorder Of Glycosylation 2s Congenital Disorders Of Glycosylation Type Ii Glycosylation, Congenital Disorder Of, Type Iie Immunodeficiency, Type 47 Congenital Disorder Of Glycosylation Type 2a
Immunodeficiency 23	Cid Due To Pgm3 Deficiency Combined Immunodeficiency Due To Pgm3 Deficiency Pgm3-Cdg Pgm3-Related Congenital Disorder Of Glycosylation IMD23 Immunodeficiency With Hyper Ige And Cognitive Impairment Immunodeficiency-Vasculitis-Myoclonus Syndrome Ivms Phosphoglucomutase 3 Deficiency Phosphoglucomutase Deficiency Type 3 Pgm3-Congenital Disorder Of Glycosylation Agm1 Deficiency Deficiency Of N-Acetylglucosamine-Phosphate Mutase 1 Deficiency Of Phosphoglucomutase 3 Pgm3 Deficiency Immunodeficiency, Type 23
Developmental And Epileptic Encephalopathy 36	Congenital Disorder Of Glycosylation Type I Epileptic Encephalopathy, Early Infantile, 36 Congenital Disorder Of Glycosylation, Type Is Cdg1s Congenital Disorder Of Glycosylation, Type Ie CDG1E Congenital Disorder Of Glycosylation Type 1e DEE36 Eiee36 Cdg Is Cdgis Congenital Disorder Of Glycosylation Ie Congenital Disorder Of Glycosylation 1e Cdg-Is Congenital Disorder Of Glycosylation Type Is Developmental And Epileptic Encephalopathy, 36 Cdg Ie Cdgie Early Infantile Epileptic Encephalopathy 36 Alg13-Cdg Cdg Syndrome Type Is Congenital Disorder Of Glycosylation Type 1s Dpm1-Cdg Cdg Syndrome Type Ie Cdg-Ie Carbohydrate Deficient Glycoprotein Syndrome Type Ie Congenital Disorder Of Glycosylation Type Ie Dol-P-Mannosyltransferase Deficiency Congenital Disorder Of Glycosylation 1s Glycosylation, Congenital Disorder Of, Type I Glycosylation, Congenital Disorder Of, Type Ie Congenital Disorder Of Glycosylation Type 1a Congenital Disorder Of Glycosylation, Type Iu
Congenital Disorder Of Glycosylation, Type Iia	CDG2A Congenital Disorder Of Glycosylation Type Iia Cdg Iia Cdgiia Congenital Disorder Of Glycosylation Type 2a Alkuraya Syndrome Mental Retardation, Growth Retardation, Prominent Columella, And Open Mouth Carbohydrate-Deficient Glycoprotein Syndrome, Type Ii Mgat2-Cdg Cdg-Iia Carbohydrate-Deficient Glycoprotein Syndrome, Type Ii, Formerly Cdgs2, Formerly Cdgs2 Cdg Syndrome Type Iia Carbohydrate Deficient Glycoprotein Syndrome Type Iia N-Acetylglucosaminyltransferase 2 Deficiency Congenital Disorder Of Glycosylation 2a Carbohydrate-Deficient Glycoprotein Syndrome Type Ii Cdgs Type Ii Carbohydrate-Deficient Glycoprotein Syndrome Type 2 Glycosylation, Congenital Disorder Of, Type Iia
Dentin Caries	Compound Dental Caries Dental Caries Extending Into Dentine Dental Caries Extending Into Dentin
Enamel Caries	Primary Dental Caries Dental Caries Limited To Enamel Simple Dental Cavity
Ngly1-Deficiency	Deficiency Of N-Glycanase 1 Ngly1-Cddg Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome Ngly1 Deficiency Congenital Disorder Of Deglycosylation Congenital Disorder Of Glycosylation Type Iv Congenital Disorder Of Deglycosylation Cddg Congenital Disorder Of Glycosylation Type Iv Cdg1v
Congenital Disorder Of Glycosylation, Type Iii	CDG2I Congenital Disorder Of Glycosylation Type Iii Cdgiii Carbohydrate Deficient Glycoprotein Syndrome Type Iii Congenital Disorder Of Glycosylation Type 2i Cog5-Cdg Cdgiidi Congenital Disorder Of Glycosylation 2i Glycosylation, Congenital Disorder Of, Type Iii Congenital Disorder Of Glycosylation, Type I-Iix
Schneckenbecken Dysplasia	SHNKND Chondrodysplasia, Lethal Neonatal, With Snail-Like Pelvis Chondrodysplasia Lethal Neonatal With Snail Like Pelvis Chondrodysplasia With Snail-Like Pelvis Slc35d1-Cdg Dysplasia, Schneckenbecken
Congenital Disorder Of Glycosylation, Type In	Congenital Disorder Of Glycosylation CDG1N Congenital Disorders Of Glycosylation Cdg In Cdgin Congenital Disorder Of Glycosylation 1n Carbohydrate-Deficient Glycoprotein Syndrome Cdg Rft1-Cdg Cdg-In Congenital Disorder Of Glycosylation Type In Carbohydrate Deficient Glycoprotein Syndrome Cdg Syndrome Congenital Disorder Of Glycosylation In Carbohydrate-Deficient Glycoprotein Syndromes Cdg Syndrome Type In Carbohydrate Deficient Glycoprotein Syndrome Type In Congenital Disorder Of Glycosylation Type 1n Man5glcnac2-Pp-Dol Flippase Deficiency Glycosylation, Congenital Disorder Of Glycosylation, Congenital Disorder Of, Type In
Hyperinsulinemic Hypoglycemia	Nesidioblastosis Islet Cell Hyperplasia Persistent Hyperinsulinemia Hypoglycemia Of Infancy Hyperinsulinemic Hypoglycaemia
Congenital Nervous System Abnormality	Congenital Neurologic Anomaly Congenital Nervous System Disorder

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (5)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-177554	KB05yne		99.97%	Unkown
HY-185414	KB05-Biotin		/	Unkown
HY-RS00593	ALG3 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS21293	Alg3 Mouse Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS27812	Alg3 Rat Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Bos taurus	ALG3	VGNC	VGNC:25828
Mus musculus	ALG3	MGD	MGI:1098592
Canis familiaris	ALG3	VGNC	VGNC:37798
Rattus norvegicus	ALG3	RGD	RGD:1306004
Felis catus	ALG3	VGNC	VGNC:59746
Macaca mulatta	ALG3	VGNC	VGNC:84241
Others	ALG3	NCBI