ALG1 - ALG1 chitobiosyldiphosphodolichol beta-mannosyltransferase Gene

Also Known as HMT1; MT-1; CDG1K; HMAT1; HMT-1; Mat-1; hMat-1

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 56052

About ALG1

Cytogenetic location: 16p13.3 Genomic coordinates (GRCh38): 16:5,071,843-5,087,379 (from NCBI)

This gene has 25 transcripts (splice variants), 195 orthologues, 1 paralogue and is associated with 3 phenotypes. Ubiquitous expression in testis (RPKM 6.0), colon (RPKM 5.8) and 25 other tissues.

Summary

The enzyme encoded by this gene catalyzes the first mannosylation step in the biosynthesis of lipid-linked oligosaccharides. This gene is mutated in congenital disorder of glycosylation type Ik. [provided by RefSeq, Dec 2008]

ALG1 Products (2)

mRNA	Protein	Name
NM_001330504.2	NP_001317433.1	chitobiosyldiphosphodolichol beta-mannosyltransferase isoform 2
NM_019109.5	NP_061982.3	chitobiosyldiphosphodolichol beta-mannosyltransferase isoform 1

Gene Ontology

Molecular Function
Biological Process

Molecular Function GO Annotation	Evidence	References	Source
enables chitobiosyldiphosphodolichol beta-mannosyltransferase activity	IDA IDA: Inferred from direct assay	14973778	GOA

Biological Process GO Annotation	Evidence	References	Source
involved in dolichol-linked oligosaccharide biosynthetic process	IDA IDA: Inferred from direct assay	14973778	GOA
acts upstream of positive effect protein N-linked glycosylation	IDA IDA: Inferred from direct assay	14973778	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

ALG1 Protein Structure

Glyco_trans_1_4

0
100
200
300
400
464 a.a.

Protein Preferred Names	Protein Names
chitobiosyldiphosphodolichol beta-mannosyltransferase	GDP-Man:GlcNAc2-PP-dolichol mannosyltransferase

Related Diseases

Diseases	Alias
Congenital Disorder Of Glycosylation, Type Ik	CDG1K Cdg Ik Cdgik Congenital Disorder Of Glycosylation 1k Alg1-Cdg Cdg-Ik Congenital Disorder Of Glycosylation Type 1k Congenital Disorder Of Glycosylation Type Ik Congenital Disorder Of Glycosylation Ik Cdg Syndrome Type Ik Carbohydrate Deficient Glycoprotein Syndrome Type Ik Mannosyltransferase 1 Deficiency Glycosylation, Congenital Disorder Of, Type Ik
Alg1-Congenital Disorder Of Glycosylation	Congenital Disorder Of Glycosylation Type 1k Carbohydrate Deficient Glycoprotein Syndrome Type Ik Cdg1k Cdgik Mannosyltransferase 1 Deficiency
Encephalopathy	Brain Diseases Encephalopathies Toxic Encephalopathy Toxic Brain Fever Toxic Brain Inflammation Toxic Brain Stem Inflammation Toxic Cerebral Fever Toxic Cerebrospinal Fever Toxic Cerebrospinal Inflammation Encephalopathy Nec Encephalopathy Nos Encephalopathy Disease Encephalopathy Syndrome
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
Nephrotic Syndrome, Type 1	Finnish Congenital Nephrosis NPHS1 Cnf Finnish Congenital Nephrotic Syndrome Nephrotic Syndrome Type 1 Nephrosis, Congenital Congenital Nephrotic Syndrome Nephrotic Syndrome, Congenital Congenital Nephrotic Syndrome Finnish Type Congenital Nephrotic Syndrome 1 Nephrosis 1, Congenital, Finnish Type Congenital Nephrotic Syndrome, Finnish Type Nephrotic Syndrome 1 Congenital Nephrotic Syndrome Of The Finnish Type
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 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 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
Myasthenic Syndrome, Congenital, 15	Congenital Myasthenic Syndrome 15 CMS15 Myasthenic Syndrome, Congenital, Without Tubular Aggregates Cmswta Myasthenic Syndrome, Congenital, 15, Without Tubular Aggregates Congenital Myasthenic Syndrome 15 Without Tubular Aggregates Myasthenic Syndrome, Congenital, Type 15, Without Tubular Aggregates
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
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 Iib	CDG2B CDGIIB Glucosidase I Deficiency Congenital Disorder Of Glycosylation Type Iib Cdg Iib Mogs-Cdg Cdg Syndrome Type Iib Cdg-Iib Carbohydrate Deficient Glycoprotein Syndrome Type Iib Congenital Disorder Of Glycosylation Type 2b Glucosidase 1 Deficiency Type Iib Congenital Disorder Of Glycosylation Glycosylation, Congenital Disorder Of, Type Iib
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 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
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
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
Diabetic Macular Edema
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
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
Congenital Myasthenic Syndrome	Congenital Myasthenia Congenital Myasthenic Syndromes Cms Myasthenic Syndromes, Congenital Myasthenic Syndromes Congenital Myasthenic Syndrome, Congenital Congenital Myasthenic Syndrome Ib Congenital And Developmental Myasthenia Developmental Myasthenia

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-RS00586	ALG1 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Macaca mulatta	ALG1	VGNC	VGNC:99483
Mus musculus	ALG1	MGD	MGI:2384774
Rattus norvegicus	ALG1	RGD	RGD:1310700
Others	ALG1	NCBI