ALG8 - ALG8 alpha-1,3-glucosyltransferase Gene

Also Known as CDG1H; PCLD3

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 79053

About ALG8

Cytogenetic location: 11q14.1 Genomic coordinates (GRCh38): 11:78,100,946-78,139,626 (from NCBI)

This gene has 62 transcripts (splice variants), 202 orthologues, 1 paralogue and is associated with 4 phenotypes. Ubiquitous expression in testis (RPKM 16.1), adrenal (RPKM 9.8) and 25 other tissues.

Summary

This gene encodes a member of the ALG6/ALG8 glucosyltransferase family. The encoded protein catalyzes the addition of the second glucose residue to the lipid-linked oligosaccharide precursor for N-linked glycosylation of proteins. Mutations in this gene have been associated with congenital disorder of glycosylation type Ih (CDG-Ih). Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008]

ALG8 Products (2)

mRNA	Protein	Name
NM_001007027.3	NP_001007028.1	probable dolichyl pyrophosphate Glc1Man9GlcNAc2 alpha-1,3-glucosyltransferase isoform b
NM_024079.5	NP_076984.2	probable dolichyl pyrophosphate Glc1Man9GlcNAc2 alpha-1,3-glucosyltransferase isoform a

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	References	Source
enables dolichyl pyrophosphate Glc1Man9GlcNAc2 alpha-1,3-glucosyltransferase activity	IMP IMP: Inferred from mutant phenotype	12480927	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	25910212	GOA

Biological Process GO Annotation	Evidence	References	Source
involved in dolichol-linked oligosaccharide biosynthetic process	IMP IMP: Inferred from mutant phenotype	12480927	GOA
involved in protein N-linked glycosylation	IMP IMP: Inferred from mutant phenotype	12480927	GOA

Cellular Component GO Annotation	Evidence	References	Source
is active in endoplasmic reticulum membrane	IGI IGI: Inferred from genetic interaction	15235028	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

ALG8 Protein Structure

Alg6_Alg8

0
100
200
300
400
500
526 a.a.

Protein Preferred Names	Protein Names
probable dolichyl pyrophosphate Glc1Man9GlcNAc2 alpha-1,3-glucosyltransferase	HUSSY-02

ALG8 Protein-protein interaction Information

Type	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	References
Intra	ALG8	Q9BVK2	CYB5R3	Homo sapiens	P00387	Y2H Prey Pooling	32296183
Intra	ALG8	Q9BVK2	CYB5R3	Homo sapiens	P00387	Y2H Array	32296183
Intra	ALG8	Q9BVK2	GPX8	Homo sapiens	Q8TED1	Y2H Prey Pooling	32296183
Intra	ALG8	Q9BVK2	GPX8	Homo sapiens	Q8TED1	Y2H Array	32296183
Intra	ALG8	Q9BVK2	CLRN1	Homo sapiens	P58418	Y2H Prey Pooling	32296183
Intra	ALG8	Q9BVK2	CLRN1	Homo sapiens	P58418	Y2H Array	32296183
Intra	ALG8	Q9BVK2	FAM209A	Homo sapiens	Q5JX71	Y2H Prey Pooling	32296183
Intra	ALG8	Q9BVK2	FAM209A	Homo sapiens	Q5JX71	Y2H Array	32296183
Intra	ALG8	Q9BVK2	MFSD6	Homo sapiens	Q6ZSS7	Y2H Array	32296183
Intra	ALG8	Q9BVK2	MFSD6	Homo sapiens	Q6ZSS7	Y2H Prey Pooling	32296183
Intra	ALG8	Q9BVK2	SAR1A	Homo sapiens	Q9NR31	Y2H Prey Pooling	32296183
Intra	ALG8	Q9BVK2	SAR1A	Homo sapiens	Q9NR31	Validated Y2H	32296183
Intra	ALG8	Q9BVK2	SAR1A	Homo sapiens	Q9NR31	Y2H Array	32296183
Intra	ALG8	Q9BVK2	CREB3	Homo sapiens	O43889-2	Y2H Bait-Prey Pool	25910212
Intra	ALG8	Q9BVK2	CREB3	Homo sapiens	O43889-2	Validated Y2H	25910212
Intra	ALG8	Q9BVK2	CREB3	Homo sapiens	O43889-2	Y2H Array	25910212
Intra	ALG8	Q9BVK2	CREB3L1	Homo sapiens	Q96BA8	Y2H Array	32296183
Intra	ALG8	Q9BVK2	CREB3L1	Homo sapiens	Q96BA8	Y2H Prey Pooling	32296183
Intra	ALG8	Q9BVK2	BIK	Homo sapiens	Q13323	Y2H Prey Pooling	32296183
Intra	ALG8	Q9BVK2	BIK	Homo sapiens	Q13323	Y2H Array	32296183

Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases	Alias
Congenital Disorder Of Glycosylation, Type Ih	CDG1H Cdg Ih Cdgih Congenital Disorder Of Glycosylation 1h Cdg-Ih Congenital Disorder Of Glycosylation Type 1h Congenital Disorder Of Glycosylation Type Ih Congenital Disorder Of Glycosylation Ih Alg8-Cdg Cdg Syndrome Type Ih Carbohydrate Deficient Glycoprotein Syndrome Type Ih Glucosyltransferase 2 Deficiency Glycosylation, Congenital Disorder Of, Type Ih
Polycystic Liver Disease 3 With Or Without Kidney Cysts	PCLD3
Polycystic Liver Disease	Autosomal Dominant Polycystic Liver Disease Isolated Polycystic Liver Disease Pcld Congenital Cystic Liver Disease Congenital Hepatic Cyst Fibrocystic Liver Disease Isolated Autosomal Dominant Polycystic Liver Disease Adpcld Liver Disease, Polycystic Multiple Cysts Of Liver Pld - [Polycystic Liver Disease] Polycystic Liver Disorder Polycystic Liver Congenital Polycystic Disease Of Liver Congenital Polycystic Liver Disease
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
Ceroid Lipofuscinosis, Neuronal, 5	Neuronal Ceroid Lipofuscinosis 5 CLN5 Cln5 Disease Finnish Variant Late Infantile Neuronal Ceroid Lipofuscinosis Vlincl Ceroid Lipofuscinosis, Neuronal, 5, Variable Age At Onset Neuronal Ceroid Lipofuscinosis 5 Variable Age Of Onset Cln5 Disease, Adult Cln5 Disease, Juvenile Cln5 Disease, Late Infantile Neuronal Ceroid Lipofuscinosis Finnish Variant Finnish Vlincl Jansky-Bielschowsky Disease Late-Infantile Neuronal Ceroid Lipofuscinosis Neuronal Ceroid Lipofuscinosis, Late-Infantile Finnish Neuronal Ceroid Lipofuscinosis 5 With Variable Age At Onset Lipofuscinosis, Ceroid, Neuronal, Type 5 Late-Infantile Neuronal Ceroid Lipfuscinosis Ceroid Lipofuscinosis, Neuronal, 6
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 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
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
Liver Disease	Liver Failure Liver Diseases Abnormality Of The Liver Liver Dysfunction Disorder Of Liver Hepatic Disorder Hepatic Disease Disease Of Bilirubin Metabolism Disorder Of Bilirubin Metabolism Liver Decompensation Liver Function Failure Hepatic Failure Nos Liver Failure Nos End Stage Liver Disease Decompensated Liver Failure Decompensation Of Liver Function Hepatic Decompensation Hepatic Insufficiency Liver Cell Necrosis With Hepatic Failure Liver Insufficiency Decompensated Liver Disease End Stage Liver Failure Liver Necrosis With Hepatic Failure
Acute Endometritis
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]
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 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
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease	Autosomal Recessive Polycystic Kidney Disease Arpkd Polycystic Kidney Disease, Autosomal Recessive Polycystic Kidney And Hepatic Disease 1 Pkhd1 PKD4 Polycystic Kidney Disease 4 With Or Without Hepatic Disease Polycystic Kidney Disease, Infantile, Type I Polycystic Kidney Disease, Infantile Type Polycystic Kidney, Autosomal Recessive Pkd3, Formerly Polycystic Kidney Disease 4, With Or Without Hepatic Disease Arpkd/Chf Ar-Pkd Polycystic Kidney Disease 4, With Or Without Polycystic Liver Disease Infantile Polycystic Kidney Disease Type I Pkd3 Kidney, Polycystic, Disease, Type 4, With/Without Hepatic Disease Polycystic Kidney Disease 3, Autosomal Dominant
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
Autosomal Dominant Polycystic Kidney Disease	Polycystic Kidney Disease, Adult Type Adpkd Polycystic Kidney Diseases Polycystic Kidney, Autosomal Dominant Congenital Biliary Ectasias Polycystic Kidney And Hepatic Disease 1 Polycystic Kidney Disease, Autosomal Dominant Kidney, Polycystic, Disease, Autosomal Dominant Adult Polycystic Kidney Disease Polycystic Kidney, Adult Type Apckd - [Autosomal Polycystic Kidney Disease]
Cystic Kidney Disease	Renal Cyst Simple Renal Cyst Kidney Cysts Kidney Diseases, Cystic Renal Cysts Kidney Cyst Cystic Kidney Congenital Cystic Kidney Disease Cystic Kidney Diseases Bosniak 1 Cyst
Polycystic Kidney Disease	Polycystic Kidney Diseases Pkd Polycystic Renal Disease Kidney Disease, Polycystic Polycystic Kidney, Autosomal Dominant

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 (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS00596	ALG8 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Rattus norvegicus	ALG8	RGD	RGD:1305468
Mus musculus	ALG8	MGD	MGI:2141959
Bos taurus	ALG8	VGNC	VGNC:25831
Felis catus	ALG8	VGNC	VGNC:59749
Macaca mulatta	ALG8	VGNC	VGNC:69673
Canis familiaris	ALG8	VGNC	VGNC:37801
Others	ALG8	NCBI