ALG8 - ALG8 alpha-1,3-glucosyltransferase Gene

Homo sapiens

Also known as CDG1H; PCLD3

Gene ID: 79053 | Gene type: protein coding

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	Reference	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	Reference	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	Reference	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
526 a.a.

Protein Preferred Names

Protein Names

probable dolichyl pyrophosphate Glc1Man9GlcNAc2 alpha-1,3-glucosyltransferase

HUSSY-02

ALG8 Protein-protein interaction Information

Type Cross Intra	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	Reference
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

Bioactive Molecules (1)

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

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