ALG6 - ALG6 alpha-1,3-glucosyltransferase Gene

Also Known as CDG1C

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 29929

About ALG6

Cytogenetic location: 1p31.3 Genomic coordinates (GRCh38): 1:63,367,627-63,438,553 (from NCBI)

This gene has 12 transcripts (splice variants), 211 orthologues, 1 paralogue and is associated with 3 phenotypes. Ubiquitous expression in lymph node (RPKM 4.0), appendix (RPKM 3.5) and 25 other tissues.

Summary

This gene encodes a member of the ALG6/ALG8 glucosyltransferase family. The encoded protein catalyzes the addition of the first glucose residue to the growing lipid-linked oligosaccharide precursor of N-linked glycosylation. Mutations in this gene are associated with congenital disorders of glycosylation type Ic. [provided by RefSeq, Jul 2008]

ALG6 Products (1)

mRNA	Protein	Name
NM_013339.4	NP_037471.2	dolichyl pyrophosphate Man9GlcNAc2 alpha-1,3-glucosyltransferase precursor

Gene Ontology

Molecular Function
Biological Process

Molecular Function GO Annotation	Evidence	Referencias	Source
enables dolichyl pyrophosphate Man9GlcNAc2 alpha-1,3-glucosyltransferase activity	IGI IGI: Inferred from genetic interaction	10359825	GOA
enables dolichyl pyrophosphate Man9GlcNAc2 alpha-1,3-glucosyltransferase activity	IMP IMP: Inferred from mutant phenotype	25792706	GOA
enables glucosyltransferase activity	IDA IDA: Inferred from direct assay	10359825	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	33961781	GOA

Biological Process GO Annotation	Evidence	Referencias	Source
involved in dolichol-linked oligosaccharide biosynthetic process	IMP IMP: Inferred from mutant phenotype	10359825	GOA
acts upstream of or within protein N-linked glycosylation	IDA IDA: Inferred from direct assay	10924277	GOA
involved in protein N-linked glycosylation	IMP IMP: Inferred from mutant phenotype	10359825	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

ALG6 Protein Structure

Alg6_Alg8

0
100
200
300
400
507 a.a.

Protein Preferred Names	Protein Names
dolichyl pyrophosphate Man9GlcNAc2 alpha-1,3-glucosyltransferase	Man(9)GlcNAc(2)-PP-Dol alpha-1,3-glucosyltransferase

ALG6 Protein-protein interaction Information

Type	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	Referencias
Intra	ALG6	Q9Y672	ALG8	Homo sapiens	Q9BVK2	Anti Tag CoIP	33961781

Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases	Alias
Congenital Disorder Of Glycosylation, Type Ic	CDG1C Congenital Disorder Of Glycosylation Type 1c Cdgic Congenital Disorder Of Glycosylation Ic Congenital Disorder Of Glycosylation 1c Carbohydrate-Deficient Glycoprotein Syndrome Type V Cdg Syndrome Type Ic Congenital Disorder Of Glycosylation Type Ic Glucosyltransferase 1 Deficiency Cdg Ic Carbohydrate-Deficient Glycoprotein Syndrome, Type I, With Deficient Glycosylation Of Dolichol-Linked Oligosaccharide, Formerly Carbohydrate-Deficient Glycoprotein Syndrome, Type V, Formerly Cdgs5, Formerly Alg6-Congenital Disorder Of Glycosylation Carbohydrate-Deficient Glycoprotein Syndrome Type Ic Alg6-Cdg Cdg-Ic Carbohydrate Deficient Glycoprotein Syndrome Type Ic Cdgs5 Glycosylation, Congenital Disorder Of, Type Ic
Bosch-Boonstra-Schaaf Optic Atrophy Syndrome	BBSOAS Optic Atrophy-Intellectual Disability Syndrome
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
Congenital Disorder Of Glycosylation, Type Iim	CDG2M Congenital Disorder Of Glycosylation Type Iim Slc35a2-Cdg Epileptic Encephalopathy, Early Infantile, 22 Cdg-Iim Cdg Iim Cdgiim Developmental And Epileptic Encephalopathy 22 Eiee22 Congenital Disorder Of Glycosylation Type 2m Cdg Syndrome Type Iim Dee22 Slc35a2-Congenital Disorder Of Glycosylation Epileptic Encephalopathy, Early Infantile, 22 Eiee22 Congenital Disorder Of Glycosylation 2m Congenital Disorder Of Glycosylation X-Linked Glycosylation, Congenital Disorder Of, Type Iim
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 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
Familial Cold Autoinflammatory Syndrome 3	Plaid Familial Atypical Cold Urticaria Facu FCAS3 Antibody Deficiency And Immune Dysregulation, Plcg2-Associated Plcg2-Associated Antibody Deficiency And Immune Dysregulation Familial Cold Urticaria With Common Variable Immunodeficiency Plcg2 Associated Antibody Deficiency And Immune Dysregulation Antibody Deficiency And Immune Dysregulation Placg2-Associated Autoinflammatory Syndrome, Cold, Familial, Type 3
Congenital Disorder Of Glycosylation, Type Iik	CDG2K Congenital Disorder Of Glycosylation Type Iik Cdg Iik Cdgiik Carbohydrate Deficient Glycoprotein Syndrome Type Iik Cdg Syndrome Type Iik Congenital Disorder Of Glycosylation Type 2k Tmem165-Cdg Cdg-Iik Cdgiidk Congenital Disorder Of Glycosylation 2k Glycosylation, Congenital Disorder Of, Type Iik
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
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
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 Iin	CDG2N Slc39a8-Cdg Cdg Iin Congenital Disorder Of Glycosylation Type Iin Cdgiin Carbohydrate Deficient Glycoprotein Syndrome Type Iin Cdg Syndrome Type Iin Congenital Disorder Of Glycosylation Type 2n Cdg-Iin Cdgiidn Slc39a8 Deficiency Congenital Disorder Of Glycosylation 2n Glycosylation, Congenital Disorder Of, Type Iin
Protein-Losing Enteropathy	Protein-Losing Enteropathies Enteropathy, Exudative Exudative Enteropathy Ple - [Protein-Losing Enteropathy]
Congenital Disorder Of Glycosylation, Type Im	Dolichol Kinase Deficiency CDG1M Dk1 Deficiency Cdg Im Cdgim Congenital Disorder Of Glycosylation Im Congenital Disorder Of Glycosylation 1m Dolk-Congenital Disorder Of Glycosylation Dk1-Cdg Cdg-Im Congenital Disorder Of Glycosylation Type Im Cdg Syndrome Type Im Carbohydrate Deficient Glycoprotein Syndrome Type Im Congenital Disorder Of Glycosylation Type 1m Hypotonia And Ichthyosis Due To Dolichol Phosphate Deficiency Glycosylation, Congenital Disorder Of, Type Im
Congenital Disorder Of Glycosylation, Type Ia	CDG1A Cdg Ia Phosphomannomutase 2 Deficiency Jaeken Syndrome Pmm2-Congenital Disorder Of Glycosylation Congenital Disorder Of Glycosylation Type Ia Cdgia Congenital Disorder Of Glycosylation Ia Congenital Disorder Of Glycosylation 1a Carbohydrate-Deficient Glycoprotein Syndrome Type Ia Cdgs1a Pmm2-Cdg Cdg-Ia Congenital Disorder Of Glycosylation Type 1a Carbohydrate-Deficient Glycoprotein Syndrome, Type Ia, Formerly Pmm Deficiency Cdg Syndrome Type Ia Carbohydrate Deficient Glycoprotein Syndrome Type Ia Cdg Syndrome Type 1a Jaeken'S Syndrome Pmm2 Deficiency Glycosylation, Congenital Disorder Of, Type Ia
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
Congenital Disorder Of Glycosylation, Type Iif	CDG2F Congenital Disorder Of Glycosylation Type Iif Cdg Iif Cdgiif Carbohydrate Deficient Glycoprotein Syndrome Type Iif Cmp-Sialic Acid Transporter Deficiency Slc35a1-Cdg Cdg-Iif Cdgiidf Cdg Syndrome Type Iif Congenital Disorder Of Glycosylation Type 2f Congenital Disorder Of Glycosylation 2f Glycosylation, Congenital Disorder Of, Type Iif
Fructose Intolerance, Hereditary	Hereditary Fructose Intolerance Fructose Intolerance Fructose-1-Phosphate Aldolase Deficiency Fructose-1,6-Bisphosphate Aldolase B Deficiency Aldolase B Deficiency Fructosemia Aldob Deficiency Hereditary Fructose Intolerance Syndrome HFI Fructosaemia Hereditary Fructose-1-Phosphate Aldolase Deficiency Fructose Aldolase B Deficiency Fructose-1,6-Biphosphate Aldolase Deficiency Hereditary Fructosemia Fructosemia, Hereditary Hereditary Fructosaemia Fructose-Biphosphate Aldolase B Deficiency Fructose Intolerance Of Newborn Aldb - [Aldolase B] Deficiency Deficiency Of Fructose-Bisphosphate Aldolase
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
Intracranial Hypertension, Idiopathic	Pseudotumor Cerebri Idiopathic Intracranial Hypertension Benign Intracranial Hypertension Iih Benign Intracran. Hypt.
Esotropia	Convergence In Manifest Squint Crossed Eyes Internal Strabismus Convergent Concomitant Strabismus Convergent Squint Convergent Strabismus Cross-Eye
Radioulnar Synostosis	Radio-Ulnar Synostosis Type 1
Walker-Warburg Syndrome	Hard Syndrome Walker-Warburg Congenital Muscular Dystrophy Cerebroocular Dysplasia-Muscular Dystrophy Syndrome Cod-Md Syndrome Chemke Syndrome Hydrocephalus, Agyria And Retinal Dysplasia Cerebroocular Dysgenesis Cerebroocular Dysplasia Muscular Dystrophy Syndrome Hard +/- E Syndrome Pagon Syndrome Warburg Syndrome Hydrocephalus, Agyria, And Retinal Dysplasia Mddga Muscular Dystrophy-Dystroglycanopathy , Type A Muscular Dystrophy-Dystroglycanopathy [With Brain And Eye Anomalies], Type A Hydrocephalus-Agyria-Retinal Dysplasia Syndrome Wws Dystrophy, Muscular, Dystroglycanopathy, Type A
Strabismus	Strabismus, Susceptibility To Strabismus, Susceptibility To, 1 Strabismus 1

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 (3)

Referencia número	Nombre del producto	Efecto	Pureza	Rare Diseases
HY-RS00595	ALG6 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS22102	Alg6 Mouse Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS28622	Alg6 Rat Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Macaca mulatta	ALG6	VGNC	VGNC:69671
Canis familiaris	ALG6	VGNC	VGNC:37800
Bos taurus	ALG6	VGNC	VGNC:25830
Rattus norvegicus	ALG6	RGD	RGD:1308815
Felis catus	ALG6	VGNC	VGNC:59748
Mus musculus	ALG6	MGD	MGI:2444031
Others	ALG6	NCBI