ALG13 - ALG13 UDP-N-acetylglucosaminyltransferase subunit Gene

Homo sapiens

Also known as CDG1S; DEE36; EIEE36; MDS031; TDRD13; CXorf45; GLT28D1; YGL047W

Gene ID: 79868 | Gene type: protein coding

About ALG13

Cytogenetic location: Xq23 Genomic coordinates (GRCh38): X:111,681,170-111,760,649 (from NCBI)

This gene has 40 transcripts (splice variants), 245 orthologues and is associated with 4 phenotypes. Ubiquitous expression in testis (RPKM 4.1), skin (RPKM 3.5) and 25 other tissues.

Summary

The protein encoded by this gene is a subunit of a bipartite UDP-N-acetylglucosamine transferase. It heterodimerizes with asparagine-linked glycosylation 14 homolog to form a functional UDP-GlcNAc Glycosyltransferase that catalyzes the second sugar addition of the highly conserved oligosaccharide precursor in endoplasmic reticulum N-linked glycosylation. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2009]

ALG13 Products(17)

mRNA	Protein	Name
NM_001039210.5	NP_001034299.3	putative bifunctional UDP-N-acetylglucosamine transferase and deubiquitinase ALG13 isoform 3
NM_001099922.3	NP_001093392.1	putative bifunctional UDP-N-acetylglucosamine transferase and deubiquitinase ALG13 isoform 1
NM_001168385.3	NP_001161857.1	putative bifunctional UDP-N-acetylglucosamine transferase and deubiquitinase ALG13 isoform 4
NM_001257230.2	NP_001244159.1	putative bifunctional UDP-N-acetylglucosamine transferase and deubiquitinase ALG13 isoform 5
NM_001257231.2	NP_001244160.1	putative bifunctional UDP-N-acetylglucosamine transferase and deubiquitinase ALG13 isoform 6
NM_001257234.2	NP_001244163.1	putative bifunctional UDP-N-acetylglucosamine transferase and deubiquitinase ALG13 isoform 5
NM_001257235.3	NP_001244164.1	putative bifunctional UDP-N-acetylglucosamine transferase and deubiquitinase ALG13 isoform 7
NM_001257237.2	NP_001244166.1	putative bifunctional UDP-N-acetylglucosamine transferase and deubiquitinase ALG13 isoform 5
NM_001257239.3	NP_001244168.1	putative bifunctional UDP-N-acetylglucosamine transferase and deubiquitinase ALG13 isoform 7
NM_001257240.3	NP_001244169.1	putative bifunctional UDP-N-acetylglucosamine transferase and deubiquitinase ALG13 isoform 7
NM_001257241.3	NP_001244170.1	putative bifunctional UDP-N-acetylglucosamine transferase and deubiquitinase ALG13 isoform 8
NM_001324290.2	NP_001311219.1	putative bifunctional UDP-N-acetylglucosamine transferase and deubiquitinase ALG13 isoform 9
NM_001324291.2	NP_001311220.1	putative bifunctional UDP-N-acetylglucosamine transferase and deubiquitinase ALG13 isoform 7
NM_001324292.2	NP_001311221.1	putative bifunctional UDP-N-acetylglucosamine transferase and deubiquitinase ALG13 isoform 10
NM_001324293.1	NP_001311222.1	putative bifunctional UDP-N-acetylglucosamine transferase and deubiquitinase ALG13 isoform 11
NM_001324294.2	NP_001311223.1	putative bifunctional UDP-N-acetylglucosamine transferase and deubiquitinase ALG13 isoform 7
NM_018466.6	NP_060936.1	putative bifunctional UDP-N-acetylglucosamine transferase and deubiquitinase ALG13 isoform 2

ALG13 Protein Structure

Glyco_tran_28_C

OTU

0
200
400
600
800
1000
1137 a.a.

Protein Preferred Names

Protein Names

putative bifunctional UDP-N-acetylglucosamine transferase and deubiquitinase ALG13

N-acetylglucosaminyldiphosphodolichol N-acetylglucosaminyltransferase

Related Diseases

Diseases

Alias

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

Rare Genetic Intellectual Disability

Non-Syndromic X-Linked Intellectual Disability

X-Linked Non-Syndromic Intellectual Disability	Non-Specific X-Linked Mental Retardation
X-Linked Non-Specific Intellectual Disability

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

Cerebral Visual Impairment

Cortical Visual Impairment	Central Visual Impairment
Visual Cortex Disorder

Hypotonia

West Syndrome

Infantile Spasms	Infantile Spasms Syndrome
Infantile Spasm	X-Linked Infantile Spasm Syndrome
X-Linked Infantile Spasms	Epileptic Encephalopathy, Early Infantile, 1
Is	Tonic Spasms With Clustering, Arrest Of Psychomotor Development And Hypsarrhythmia On Eeg
West'S Syndrome	Spasms, Infantile
Is -[Infantile Spasm]	Salaam Spasm
Salaam Tic

Developmental And Epileptic Encephalopathy

Encephalopathy, Developmental And Epileptic

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

Microcephaly

Microencephaly	Microcephalus
Microcephalic	Nanocephaly
Congenital Microcephaly	Brain Hypoplasia
Brain Nondevelopment	Cephalic Hypoplasia
Undeveloped Cerebrum	Undeveloped Brain
Micrencephalon	Micrencephaly

Acute Endometritis

Schuurs-Hoeijmakers Syndrome

SHMS	Pacs1-Related Syndrome
Mrd17	Intellectual Disability-Craniofacial Dysmorphism-Cryptorchidism Syndrome
Intellectual Developmental Disorder, Autosomal Dominant 17	Autosomal Dominant Intellectual Disability-17
Autosomal Dominant Mental Retardation 17	Pacs1 Syndrome
Mental Retardation, Autosomal Dominant 17

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

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 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

Epilepsy, Idiopathic Generalized 14

EIG14	Epilepsy, Idiopathic Generalized, Susceptibility To, 14
Idiopathic Generalized Epilepsy 14	{Epilepsy, Idiopathic Generalized, Susceptibility To, 14}

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

Infancy Electroclinical Syndrome

Christianson Syndrome

X-Linked Angelman-Like Syndrome	X-Linked Intellectual Disability, South African Type
X-Linked Intellectual Disability-Craniofacial Dysmorphism-Epilepsy-Ophthalmoplegia-Cerebellar Atrophy Syndrome	Mental Retardation, Microcephaly, Epilepsy, And Ataxia Syndrome
Mental Retardation, X-Linked Syndromic, Christianson Type	Mrxsch
Angelman-Like Syndrome X-Linked	Intellectual Disability Microcephaly Epilepsy And Ataxia Syndrome
Intellectual Disability X-Linked Syndromic Christianson Type	Mrxs Christianson
X-Linked Intellectual Disability - Craniofacial Dysmorphism - Epilepsy - Ophthalmoplegia - Cerebellar Atrophy	Angelman-Like Syndrome, X-Linked
Intellectual Deficit, X-Linked, South African Type	Mental Retardation X-Linked, South African Type
Mental Retardation, X-Linked, Syndromic, Christianson Type

Lennox-Gastaut Syndrome

Lennox Syndrome	Encephalopathy Of Childhood
Epileptic Encephalopathy Lennox-Gastaut Type	Childhood Epileptic Encephalopathy With Diffuse Slow Spikes And Waves
Lgs

Benign Familial Neonatal Epilepsy

Familial Neonatal Seizures	Bfns
Benign Familial Neonatal Convulsions	Benign Familial Neonatal Seizures
Epilepsy Benign Neonatal Familial	Familial Benign Neonatal Convulsions
Benign Neonatal Familial Convulsions	Familial Benign Neonatal Epilepsy
Epilepsy, Benign Neonatal, 2	Benign Familial Convulsion

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

Early Infantile Epileptic Encephalopathy

Early Infantile Epileptic Encephalopathy With Burst-Suppression	Early Infantile Epileptic Encephalopathy With Suppression Bursts
Eiee	Early Infantile Epileptic Encephalopathy With Suppression-Bursts
Ohtahara Syndrome	Encephalopathy, Epileptic, Early Infantile

Dravet Syndrome

Severe Myoclonic Epilepsy Of Infancy	Severe Myoclonic Epilepsy In Infancy
Smei	Epileptic Encephalopathy, Early Infantile, 6
DRVT	Developmental And Epileptic Encephalopathy 6a
Dee6a	Eiee6
Developmental And Epileptic Encephalopathy, 6	Dee6
Developmental And Epileptic Encephalopathy 6	Early Infantile Epileptic Encephalopathy 6
Myoclonic Epilepsy, Severe, Of Infancy	Sme
Severe Myoclonus Epilepsy Of Infancy	Borderline Smei
Smeb	Smeb-M
Smeb-O	Smeb-Sw
Smei-Borderland	Smei-Borderland More Than One Feature
Smei-Borderland-Myoclonic Seizures	Smei-Borderland-Spike Wave
Intractable Childhood Epilepsy With Generalized Tonic-Clonic Seizures	ICEGTC
Infantile Severe Myoclonic Epilepsy	Epilepsy, Intractable Childhood, With Generalized Tonic-Clonic Seizures

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-RS00590	ALG13 Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Rattus norvegicus	ALG13	RGD	RGD:1359416
Macaca mulatta	ALG13	VGNC	VGNC:69739
Mus musculus	ALG13	MGD	MGI:1914824
Others	ALG13	NCBI

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