ALG14 - ALG14 UDP-N-acetylglucosaminyltransferase subunit Gene

Also Known as CMS15; MEPCA; IDDEBF

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 199857

About ALG14

Cytogenetic location: 1p21.3 Genomic coordinates (GRCh38): 1:94,974,405-95,072,951 (from NCBI)

This gene has 3 transcripts (splice variants), 192 orthologues and is associated with 4 phenotypes. Ubiquitous expression in adrenal (RPKM 2.5), thyroid (RPKM 2.5) and 25 other tissues.

Summary

This gene is a member of the Glycosyltransferase 1 family. The encoded protein and ALG13 are thought to be subunits of UDP-GlcNAc transferase, which catalyzes the first two committed steps in endoplasmic reticulum N-linked glycosylation. Mutations in this gene have been linked to congenital myasthenic syndrome (CMSWTA). Alternatively spliced transcript variants have been identified. [provided by RefSeq, Mar 2015]

ALG14 Products (2)

mRNA	Protein	Name
NM_001305242.2	NP_001292171.1	UDP-N-acetylglucosamine transferase subunit ALG14 homolog isoform 2
NM_144988.4	NP_659425.1	UDP-N-acetylglucosamine transferase subunit ALG14 homolog isoform 1

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	References	Source
enables protein binding	IPI IPI: Inferred from physical interaction	36200043	GOA
enables protein-membrane adaptor activity	IGI IGI: Inferred from genetic interaction	16100110	GOA

Biological Process GO Annotation	Evidence	References	Source
involved in dolichol-linked oligosaccharide biosynthetic process	IDA IDA: Inferred from direct assay	36200043	GOA
acts upstream of positive effect protein N-linked glycosylation	IDA IDA: Inferred from direct assay	36200043	GOA

Cellular Component GO Annotation	Evidence	References	Source
part of UDP-N-acetylglucosamine transferase complex	IDA IDA: Inferred from direct assay	36200043	GOA
is active in cytoplasmic side of endoplasmic reticulum membrane	IGI IGI: Inferred from genetic interaction	16100110	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

ALG14 Protein Structure

Alg14

0
100
200
216 a.a.

Protein Preferred Names	Protein Names
UDP-N-acetylglucosamine transferase subunit ALG14 homolog

Related Diseases

Diseases	Alias
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
Intellectual Developmental Disorder With Epilepsy, Behavioral Abnormalities, And Coarse Facies	IDDEBF
Myopathy, Epilepsy, And Progressive Cerebral Atrophy	MEPCA
Congenital Myasthenic Syndromes With Glycosylation Defect
Cerebral Atrophy
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
Myopathy, Myofibrillar, 8	Myofibrillar Myopathy 8 MFM8 Myopathy, Myofibrillar, Type 8
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
Myopathy, Centronuclear, 4	CNM4 Centronuclear Myopathy 4 Congenital Myopathy With Internal Nuclei And Atypical Cores Centronuclear Myopathy Type 4 Myopathy, Centronuclear, Type 4
Myasthenic Syndrome, Congenital, 12	Congenital Myasthenic Syndrome 12 CMS12 Myasthenic Syndrome, Congenital, With Tubular Aggregates 1 Cmsta1 Myasthenia, Congenital, 12, With Tubular Aggregates Congenital Myasthenia 12 With Tubular Aggregates Limb-Girdle Myasthenia With Tubular Aggregates Myasthenia, Congenital, With Tubular Aggregates 1 Myasthenic Syndrome, Congenital, With Tubular Aggregates, 1
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
Myopathy, Centronuclear, 5	CNM5 Centronuclear Myopathy 5 Myopathy, Centronuclear, Type 5
Myasthenic Syndrome, Congenital, 14	Congenital Myasthenic Syndrome 14 CMS14 Cmsta3 Myasthenic Syndrome, Congenital, With Tubular Aggregates 3 Myasthenic Syndrome, Congenital, 14, With Tubular Aggregates Congenital Myasthenic Syndrome 14, With Tubular Aggregates Congenital Myasthenic Syndrome With Tubular Aggregates 3 Myasthenic Syndrome, Congenital, With Tubular Aggregates, 3 Myasthenic Syndrome, Congenital, Type 14, With Tubular Aggregates
Myopathy, Myofibrillar, 7	Myofibrillar Myopathy 7 MFM7 Kyphosis-Lateral Tongue Atrophy-Myofibrillar Myopathy Syndrome Myopathy, Myofibrillar, Type 7
Neuromuscular Junction Disease	Neuromuscular Junction Diseases
Echinostomiasis	Infection By Echinochasmus
Congenital Muscular Dystrophy-Dystroglycanopathy A14	Congenital Muscular Dystrophy-Dystroglycanopathy With Brain And Eye Anomalies Type A14 Mddga14 Walker-Warburg Syndrome Or Muscle-Eye-Brain Disease Gmppb-Related Congenital Muscular Dystrophy-Dystroglycanopathy With Brain And Eye Anomalies Type A 14
Spinocerebellar Ataxia, Autosomal Recessive 10	SCAR10 Autosomal Recessive Spinocerebellar Ataxia 10 Adult-Onset Autosomal Recessive Cerebellar Ataxia Autosomal Recessive Spinocerebellar Ataxia Type 10 Spinocerebellar Ataxia, Autosomal Recessive, 10 Ataxia, Spinocerebellar, Autosomal Recessive, Type 10
Congenital Disorder Of Glycosylation, Type Iiq	CDG2Q Cdg Iiq Cdgiiq Congenital Disorder Of Glycosylation Type Iiq Cog2-Cdg Cog2-Related Congenital Disorder Of Glycosylation Cdgiidq Congenital Disorder Of Glycosylation 2q Cdg-Iiq
Epilepsy	Epilepsy Syndrome Epileptic Syndrome Epilepsies Symptomatic Epilepsies Post Traumatic Epilepsy Traumatic Epilepsy Traumatic Epileptic Epilepsy Due To Hippocampal Sclerosis Epilepsy With Ammon'S Horn Sclerosis Epilepsy Due To Cortical Dysplasia Epilepsy Due To Neuronal Migration Disorders
Developmental And Epileptic Encephalopathy 15	DEE15 Epileptic Encephalopathy, Early Infantile, 15 Eiee15 Developmental And Epileptic Encephalopathy, 15 Early Infantile Epileptic Encephalopathy 15 Encephalopathy, Epileptic, Early Infantile, Type 15 Early Infantile Epileptic Encephalopathy With Suppression Bursts X-Linked Infantile Spasm Syndrome
Myopathy	Muscular Diseases Myopathies
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 2	Lgmd2b Muscular Dystrophy, Limb-Girdle, Type 2b Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2e Beta-Sarcoglycanopathy Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2y Muscular Dystrophy, Limb-Girdle, Type 3 Lgmd3 Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2s LGMDR2 Muscular Dystrophy, Limb-Girdle, Type 2s Limb-Girdle Muscular Dystrophy Type 2b Lgmd2e Limb-Girdle Muscular Dystrophy Due To Beta-Sarcoglycan Deficiency Muscular Dystrophy, Limb-Girdle, Type 2e Lgmd2s Autosomal Recessive Muscular Dystrophy Due To Lap1b Deficiency Autosomal Recessive Muscular Dystrophy Due To Torsin-1a-Interacting Protein 1 Deficiency Lgmd2y Muscular Dystrophy With Progressive Weakness, Distal Contractures And Rigid Spine Muscular Dystrophy, Limb-Girdle, Type 2y Dysferlin-Related Limb-Girdle Muscular Dystrophy R2 Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2b Dysferlin-Related Lgmd R2 Lgmd Due To Dysferlin Deficiency Lgmd Type 2b Limb-Girdle Muscular Dystrophy Due To Dysferlin Deficiency Limb-Girdle Muscular Dystrophy 2b Limb-Girdle Muscular Dystrophy, Type 2b Dystrophy, Muscular, Limb-Girdle, Autosomal Recessive, Type 2 Dystrophy, Muscular, Limb-Girdle, Type 2b Limb-Girdle Muscular Dystrophy, Type 2e
Cohen Syndrome	Pepper Syndrome COH1 Hypotonia, Obesity, And Prominent Incisors Coh Chs1, Formerly Norio Syndrome Obesity-Hypotonia Syndrome Prominent Incisors-Obesity-Hypotonia Syndrome Chs1 Hypotonia-Obesity-Prominent Incisors Stage 4s Neuroblastoma
Hypotonia-Cystinuria Syndrome	Cystinuria With Mitochondrial Disease 2p21 Microdeletion Syndrome HCS Homozygous 2p16 Deletion Syndrome, Formerly 2p21 Deletion Syndrome Del(2)(P21) Monosomy 2p21 Atypical Hypotonia-Cystinuria Syndrome Atypical Hcs
Neuromuscular Disease	Neuromuscular Diseases Neuromuscular Disorders Neuromuscular Disorder
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
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

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)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS00591	ALG14 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS22386	Alg14 Mouse Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS28910	Alg14 Rat Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Bos taurus	ALG14	VGNC	VGNC:25826
Mus musculus	ALG14	MGD	MGI:1914039
Canis familiaris	ALG14	VGNC	VGNC:37796
Felis catus	ALG14	VGNC	VGNC:59744
Rattus norvegicus	ALG14	RGD	RGD:1312003
Others	ALG14	NCBI