Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	79868
Gene name	ALG13 UDP-N-acetylglucosaminyltransferase subunit
Gene symbol	ALG13
Synonyms (NCBI Gene)	CDG1SCXorf45DEE36EIEE36GLT28D1MDS031TDRD13YGL047W
Chromosome	X
Chromosome location	Xq23
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 additi

Show/Hide all (9)

SNP ID	Visualize variation	Clinical significance	Consequence
rs138712375	C>T	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, non coding transcript variant, missense variant, genic downstream transcript variant
rs145518377	A>G	Conflicting-interpretations-of-pathogenicity	5 prime UTR variant, missense variant, genic upstream transcript variant, coding sequence variant, non coding transcript variant, synonymous variant
rs189931917	A>C,G	Conflicting-interpretations-of-pathogenicity	Non coding transcript variant, coding sequence variant, missense variant, genic downstream transcript variant
rs398122394	A>G	Pathogenic	Missense variant, 5 prime UTR variant, synonymous variant, non coding transcript variant, genic upstream transcript variant, coding sequence variant
rs746842727	G>A	Likely-benign, conflicting-interpretations-of-pathogenicity	Non coding transcript variant, synonymous variant, coding sequence variant, genic downstream transcript variant
rs773401427	C>G	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, genic downstream transcript variant, non coding transcript variant, missense variant
rs867599353	A>G	Pathogenic	Genic upstream transcript variant, non coding transcript variant, missense variant, 5 prime UTR variant, coding sequence variant
rs1556483387	A>G	Likely-pathogenic	Intron variant, non coding transcript variant, genic upstream transcript variant, missense variant, genic downstream transcript variant, coding sequence variant, 5 prime UTR variant
rs1569508922	T>A	Likely-pathogenic	Coding sequence variant, upstream transcript variant, 5 prime UTR variant, genic upstream transcript variant, non coding transcript variant, missense variant

146

Show/Hide all (146)

miRTarBase ID	miRNA	Experiments	Reference
MIRT051473	hsa-let-7e-5p	CLASH	23622248
MIRT445792	hsa-miR-548m	PAR-CLIP	22100165
MIRT445791	hsa-miR-1183	PAR-CLIP	22100165
MIRT445790	hsa-miR-3607-3p	PAR-CLIP	22100165
MIRT445789	hsa-miR-4786-5p	PAR-CLIP	22100165
MIRT445788	hsa-miR-769-5p	PAR-CLIP	22100165
MIRT445787	hsa-miR-526b-5p	PAR-CLIP	22100165
MIRT445786	hsa-miR-3672	PAR-CLIP	22100165
MIRT445785	hsa-miR-6864-3p	PAR-CLIP	22100165
MIRT445792	hsa-miR-548m	PAR-CLIP	22100165
MIRT445791	hsa-miR-1183	PAR-CLIP	22100165
MIRT445790	hsa-miR-3607-3p	PAR-CLIP	22100165
MIRT445789	hsa-miR-4786-5p	PAR-CLIP	22100165
MIRT445788	hsa-miR-769-5p	PAR-CLIP	22100165
MIRT445787	hsa-miR-526b-5p	PAR-CLIP	22100165
MIRT445786	hsa-miR-3672	PAR-CLIP	22100165
MIRT445785	hsa-miR-6864-3p	PAR-CLIP	22100165
MIRT445792	hsa-miR-548m	PAR-CLIP	22100165
MIRT445791	hsa-miR-1183	PAR-CLIP	22100165
MIRT445790	hsa-miR-3607-3p	PAR-CLIP	22100165
MIRT445789	hsa-miR-4786-5p	PAR-CLIP	22100165
MIRT445788	hsa-miR-769-5p	PAR-CLIP	22100165
MIRT445787	hsa-miR-526b-5p	PAR-CLIP	22100165
MIRT445786	hsa-miR-3672	PAR-CLIP	22100165
MIRT445785	hsa-miR-6864-3p	PAR-CLIP	22100165
MIRT445792	hsa-miR-548m	PAR-CLIP	22100165
MIRT445791	hsa-miR-1183	PAR-CLIP	22100165
MIRT445790	hsa-miR-3607-3p	PAR-CLIP	22100165
MIRT445789	hsa-miR-4786-5p	PAR-CLIP	22100165
MIRT445788	hsa-miR-769-5p	PAR-CLIP	22100165
MIRT445787	hsa-miR-526b-5p	PAR-CLIP	22100165
MIRT445786	hsa-miR-3672	PAR-CLIP	22100165
MIRT445785	hsa-miR-6864-3p	PAR-CLIP	22100165
MIRT778393	hsa-miR-148a	CLIP-seq
MIRT778394	hsa-miR-148b	CLIP-seq
MIRT778395	hsa-miR-152	CLIP-seq
MIRT778396	hsa-miR-4712-5p	CLIP-seq
MIRT778397	hsa-miR-770-5p	CLIP-seq
MIRT778398	hsa-miR-106a	CLIP-seq
MIRT778399	hsa-miR-106b	CLIP-seq
MIRT778400	hsa-miR-1275	CLIP-seq
MIRT778401	hsa-miR-17	CLIP-seq
MIRT778402	hsa-miR-20a	CLIP-seq
MIRT778403	hsa-miR-20b	CLIP-seq
MIRT778404	hsa-miR-23a	CLIP-seq
MIRT778405	hsa-miR-23b	CLIP-seq
MIRT778406	hsa-miR-23c	CLIP-seq
MIRT778407	hsa-miR-3140-3p	CLIP-seq
MIRT778408	hsa-miR-323-3p	CLIP-seq
MIRT778409	hsa-miR-3591-5p	CLIP-seq
MIRT778410	hsa-miR-3609	CLIP-seq
MIRT778411	hsa-miR-376c	CLIP-seq
MIRT778412	hsa-miR-4260	CLIP-seq
MIRT778413	hsa-miR-4452	CLIP-seq
MIRT778414	hsa-miR-4665-5p	CLIP-seq
MIRT778415	hsa-miR-4693-3p	CLIP-seq
MIRT778416	hsa-miR-4796-3p	CLIP-seq
MIRT778417	hsa-miR-519d	CLIP-seq
MIRT778418	hsa-miR-548ah	CLIP-seq
MIRT778419	hsa-miR-93	CLIP-seq
MIRT778398	hsa-miR-106a	CLIP-seq
MIRT778399	hsa-miR-106b	CLIP-seq
MIRT778400	hsa-miR-1275	CLIP-seq
MIRT778401	hsa-miR-17	CLIP-seq
MIRT778402	hsa-miR-20a	CLIP-seq
MIRT778403	hsa-miR-20b	CLIP-seq
MIRT778404	hsa-miR-23a	CLIP-seq
MIRT778405	hsa-miR-23b	CLIP-seq
MIRT778406	hsa-miR-23c	CLIP-seq
MIRT778420	hsa-miR-2909	CLIP-seq
MIRT778407	hsa-miR-3140-3p	CLIP-seq
MIRT778421	hsa-miR-3149	CLIP-seq
MIRT778408	hsa-miR-323-3p	CLIP-seq
MIRT778422	hsa-miR-34c-3p	CLIP-seq
MIRT778409	hsa-miR-3591-5p	CLIP-seq
MIRT778410	hsa-miR-3609	CLIP-seq
MIRT778423	hsa-miR-3614-3p	CLIP-seq
MIRT778424	hsa-miR-3622a-5p	CLIP-seq
MIRT778425	hsa-miR-3651	CLIP-seq
MIRT778411	hsa-miR-376c	CLIP-seq
MIRT778426	hsa-miR-3935	CLIP-seq
MIRT778412	hsa-miR-4260	CLIP-seq
MIRT778427	hsa-miR-4278	CLIP-seq
MIRT778428	hsa-miR-4423-3p	CLIP-seq
MIRT778413	hsa-miR-4452	CLIP-seq
MIRT778414	hsa-miR-4665-5p	CLIP-seq
MIRT778429	hsa-miR-4675	CLIP-seq
MIRT778430	hsa-miR-4688	CLIP-seq
MIRT778415	hsa-miR-4693-3p	CLIP-seq
MIRT778431	hsa-miR-4741	CLIP-seq
MIRT778432	hsa-miR-4744	CLIP-seq
MIRT740055	hsa-miR-4753-3p	CLIP-seq
MIRT740056	hsa-miR-4768-5p	CLIP-seq
MIRT778416	hsa-miR-4796-3p	CLIP-seq
MIRT778433	hsa-miR-489	CLIP-seq
MIRT778417	hsa-miR-519d	CLIP-seq
MIRT778418	hsa-miR-548ah	CLIP-seq
MIRT778434	hsa-miR-548p	CLIP-seq
MIRT778435	hsa-miR-570	CLIP-seq
MIRT740057	hsa-miR-579	CLIP-seq
MIRT778419	hsa-miR-93	CLIP-seq
MIRT778400	hsa-miR-1275	CLIP-seq
MIRT778404	hsa-miR-23a	CLIP-seq
MIRT778405	hsa-miR-23b	CLIP-seq
MIRT778406	hsa-miR-23c	CLIP-seq
MIRT778408	hsa-miR-323-3p	CLIP-seq
MIRT1929779	hsa-miR-34b	CLIP-seq
MIRT1929780	hsa-miR-3685	CLIP-seq
MIRT778411	hsa-miR-376c	CLIP-seq
MIRT1929781	hsa-miR-384	CLIP-seq
MIRT778412	hsa-miR-4260	CLIP-seq
MIRT778413	hsa-miR-4452	CLIP-seq
MIRT1929782	hsa-miR-4476	CLIP-seq
MIRT1929783	hsa-miR-4477a	CLIP-seq
MIRT778414	hsa-miR-4665-5p	CLIP-seq
MIRT1929784	hsa-miR-4795-3p	CLIP-seq
MIRT1929785	hsa-miR-548ae	CLIP-seq
MIRT1929786	hsa-miR-548aj	CLIP-seq
MIRT1929787	hsa-miR-548am	CLIP-seq
MIRT1929788	hsa-miR-548x	CLIP-seq
MIRT1929789	hsa-miR-656	CLIP-seq
MIRT1929790	hsa-miR-944	CLIP-seq
MIRT2170575	hsa-miR-3163	CLIP-seq
MIRT2170576	hsa-miR-340	CLIP-seq
MIRT2170577	hsa-miR-4282	CLIP-seq
MIRT2170578	hsa-miR-4760-5p	CLIP-seq
MIRT2170579	hsa-miR-4803	CLIP-seq
MIRT2170580	hsa-miR-513a-3p	CLIP-seq
MIRT2170581	hsa-miR-659	CLIP-seq
MIRT2473146	hsa-miR-3613-5p	CLIP-seq
MIRT2473147	hsa-miR-3675-5p	CLIP-seq
MIRT2473148	hsa-miR-369-3p	CLIP-seq
MIRT2473149	hsa-miR-4283	CLIP-seq
MIRT2473150	hsa-miR-4427	CLIP-seq
MIRT2473151	hsa-miR-4489	CLIP-seq
MIRT2473152	hsa-miR-4666-3p	CLIP-seq
MIRT2473153	hsa-miR-4690-3p	CLIP-seq
MIRT2473154	hsa-miR-4775	CLIP-seq
MIRT778435	hsa-miR-570	CLIP-seq
MIRT2473146	hsa-miR-3613-5p	CLIP-seq
MIRT2473147	hsa-miR-3675-5p	CLIP-seq
MIRT2473149	hsa-miR-4283	CLIP-seq
MIRT2473150	hsa-miR-4427	CLIP-seq
MIRT2473151	hsa-miR-4489	CLIP-seq
MIRT2473152	hsa-miR-4666-3p	CLIP-seq
MIRT778435	hsa-miR-570	CLIP-seq

Show/Hide all (26)

GO ID	Ontology	Definition	Evidence	Reference
GO:0003824	Function	Catalytic activity	IEA
GO:0004577	Function	N-acetylglucosaminyldiphosphodolichol N-acetylglucosaminyltransferase activity	IDA	36200043
GO:0004577	Function	N-acetylglucosaminyldiphosphodolichol N-acetylglucosaminyltransferase activity	IDA	36200043
GO:0004577	Function	N-acetylglucosaminyldiphosphodolichol N-acetylglucosaminyltransferase activity	IEA
GO:0004577	Function	N-acetylglucosaminyldiphosphodolichol N-acetylglucosaminyltransferase activity	IMP	22492991
GO:0004843	Function	Cysteine-type deubiquitinase activity	IDA	23827681
GO:0004843	Function	Cysteine-type deubiquitinase activity	IEA
GO:0005515	Function	Protein binding	IPI	25416956, 32296183, 33961781, 36200043
GO:0005737	Component	Cytoplasm	IEA
GO:0005783	Component	Endoplasmic reticulum	IEA
GO:0005789	Component	Endoplasmic reticulum membrane	IEA
GO:0005789	Component	Endoplasmic reticulum membrane	TAS
GO:0006487	Process	Protein N-linked glycosylation	IMP	22492991
GO:0006488	Process	Dolichol-linked oligosaccharide biosynthetic process	IEA
GO:0006488	Process	Dolichol-linked oligosaccharide biosynthetic process	IMP	22492991
GO:0006508	Process	Proteolysis	IEA
GO:0008233	Function	Peptidase activity	IEA
GO:0008234	Function	Cysteine-type peptidase activity	IEA
GO:0016020	Component	Membrane	IEA
GO:0016740	Function	Transferase activity	IEA
GO:0016757	Function	Glycosyltransferase activity	IEA
GO:0016758	Function	Hexosyltransferase activity	IEA
GO:0016787	Function	Hydrolase activity	IEA
GO:0043541	Component	UDP-N-acetylglucosamine transferase complex	IDA	36200043
GO:0043541	Component	UDP-N-acetylglucosamine transferase complex	IDA	36200043
GO:0098554	Component	Cytoplasmic side of endoplasmic reticulum membrane	IGI	16100110

MIM	HGNC	e!Ensembl
300776	30881	ENSG00000101901

Q9NP73

Protein name

UDP-N-acetylglucosamine transferase subunit ALG13 (EC 2.4.1.141) (Asparagine-linked glycosylation 13 homolog) (Glycosyltransferase 28 domain-containing protein 1)

Protein function

Catalytic subunit of the UDP-N-acetylglucosamine transferase complex that operates in the biosynthetic pathway of dolichol-linked oligosaccharides, the glycan precursors employed in protein asparagine (N)-glycosylation. The assembly of dolichol-

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF04101	Glyco_tran_28_C	3 → 133	Glycosyltransferase family 28 C-terminal domain	Domain
PF02338	OTU	237 → 348	OTU-like cysteine protease	Family

Sequence

MKCVFVTVGTTSFDDLIACVSAPDSLQKIESLGYNRLILQIGRGTVVPEPFSTESFTLDV
YRYKDSLKEDIQKADLVISHAGAGSCLETLEKGKPLVVVINEKLMNNHQLELAKQLHKEG
HLFYCTCRVLTCPGQAKSIASAPGKCQDSAALTSTAFSGLDFGLLSGYLHKQALVTATHP
TCTLLFPSCHAFFPLPLTPTLYKMHKGWKNYCSQKSLNEASMDEYLGSLGLFRKLTAKDA
SCLFRAISEQLFCSQVHHLEIRKACVSYMRENQQTFESYVEGSFEKYLERLGDPKESAGQ
LEIRALSLIYNRDFILYRFPGKPPTYVTDNGYEDKILLCYSSSGHYDSVYSKQFQSSAAV
CQAVLYEILYKDVFVVDEEELKTAIKLFRSGSKKNRNNAVTGSEDAHTDYKSSNQNRMEE
WGACYNAENIPEGYNKGTEETKSPENPSKMPFPYKVLKALDPEIYRNVEFDVWLDSRKEL
QKSDYMEYAGRQYYLGDKCQVCLESEGRYYNAHIQEVGNENNSVTVFIEELAEKHVVPLA
NLKPVTQVMSVPAWNAMPSRKGRGYQKMPGGYVPEIVISEMDIKQQKKMFKKIRGKEVYM
TMAYGKGDPLLPPRLQHSMHYGHDPPMHYSQTAGNVMSNEHFHPQHPSPRQGRGYGMPRN
SSRFINRHNMPGPKVDFYPGPGKRCCQSYDNFSYRSRSFRRSHRQMSCVNKESQYGFTPG
NGQMPRGLEETITFYEVEEGDETAYPTLPNHGGPSTMVPATSGYCVGRRGHSSGKQTLNL
EEGNGQSENGRYHEEYLYRAEPDYETSGVYSTTASTANLSLQDRKSCSMSPQDTVTSYNY
PQKMMGNIAAVAASCANNVPAPVLSNGAAANQAISTTSVSSQNAIQPLFVSPPTHGRPVI
ASPSYPCHSAIPHAGASLPPPPPPPPPPPPPPPPPPPPPPPPPPPALDVGETSNLQPPPP
LPPPPYSCDPSGSDLPQDTKVLQYYFNLGLQCYYHSYWHSMVYVPQMQQQLHVENYPVYT
EPPLVDQTVPQCYSEVRREDGIQAEASANDTFPNADSSSVPHGAVYYPVMSDPYGQPPLP
GFDSCLPVVPDYSCVPPWHPVGTAYGGSSQIHGAINPGPIGCIAPSPPASHYVPQGM

Sequence length

1137

Interactions

View interactions

	KEGG		Reactome
	N-Glycan biosynthesis Various types of N-glycan biosynthesis Metabolic pathways		Biosynthesis of the N-glycan precursor (dolichol lipid-linked oligosaccharide, LLO) and transfer to a nascent protein Defective ALG14 causes congenital myasthenic syndrome (ALG14-CMS)

1139

Show/Hide Causal Diseases (9)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
ALG13-related disorder	Likely pathogenic; Pathogenic	rs398122394	RCV003925015
Congenital disorder of glycosylation	Likely pathogenic	rs2147626590, rs1569508922	RCV001543374 RCV001543373
Developmental and epileptic encephalopathy, 36	Likely pathogenic; Pathogenic	rs1945385727, rs2147624939, rs2525054281, rs867599353, rs398122394	RCV002221292 RCV002249246 RCV003444180 RCV000032994 RCV000056321 RCV001089751
Hypotonia	Likely pathogenic; Pathogenic	rs398122394	RCV001849307
Intellectual disability	Likely pathogenic; Pathogenic	rs398122394	RCV001249505
Microcephaly	Likely pathogenic; Pathogenic	rs1157517282, rs398122394	RCV001849838 RCV001849307
Neurodevelopmental delay	Likely pathogenic; Pathogenic	rs1945385727, rs398122394	RCV001849835 RCV001849307
Rare genetic intellectual disability	Likely pathogenic; Pathogenic	rs398122394	RCV001256982
Seizure	Likely pathogenic; Pathogenic	rs2525558778, rs398122394	RCV004579660 RCV001263094

Show/Hide Unknown Diseases (32)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Acute myeloid leukemia	Uncertain significance; Benign	rs779911093, rs146925326	RCV005922884 RCV005895216
Adrenocortical carcinoma, hereditary	Benign	rs146925326	RCV005895220
Cervical cancer	Benign	rs146925326	RCV005895221
Cholangiocarcinoma	Likely benign	rs147250361	RCV005905354
Chronic lymphocytic leukemia/small lymphocytic lymphoma	Benign	rs146925326	RCV005895236
Clear cell carcinoma of kidney	Benign	rs146925326	RCV005895223
Colon adenocarcinoma	Benign	rs146925326	RCV005895215
Colorectal cancer	Benign	rs146925326	RCV005895226
Developmental and epileptic encephalopathy	Uncertain significance	rs1944088858, rs1392307065	RCV005361788 RCV005356282
Developmental and epileptic encephalopathy, 1	Likely benign; Conflicting classifications of pathogenicity	rs199505558, rs753556936	RCV002508941 RCV000714743
Epileptic encephalopathy	Uncertain significance	rs1057518808	RCV000415213
Familial cancer of breast	Benign; Likely benign; Conflicting classifications of pathogenicity	rs146925326, rs147250361, rs371428241	RCV005895214 RCV005905352 RCV005913523
Familial pancreatic carcinoma	Benign	rs146925326	RCV005895225
Focal segmental glomerulosclerosis	Uncertain significance	rs397518473	RCV000074395
Gastric cancer	Benign; Likely benign	rs146925326, rs780688383	RCV005895228 RCV005898060
Hepatocellular carcinoma	Benign	rs146925326	RCV005895217
Hereditary ataxia	Conflicting classifications of pathogenicity	rs778296473	RCV005626857
Lung cancer	Benign	rs146925326	RCV005895234
Lymphoma	Benign	rs146925326	RCV005895229
Malignant lymphoma, large B-cell, diffuse	Benign; Likely benign	rs780688383	RCV005898059
Malignant tumor of esophagus	Benign; Likely benign	rs146925326, rs780688383, rs147250361	RCV005895218 RCV005898058 RCV005905353
Melanoma	Benign	rs146925326	RCV005895233
Nonpapillary renal cell carcinoma	Likely benign; Uncertain significance; Benign	rs372176416, rs374692571, rs2148514658, rs2525841278, rs763832124, rs146925326	RCV005912668 RCV005912874 RCV005924046 RCV005928591 RCV005928762 RCV005895219
Ovarian cancer	Benign	rs146925326	RCV005895222
Ovarian serous cystadenocarcinoma	Benign; Likely benign	rs146925326, rs772039609	RCV005895230 RCV005897984
Sarcoma	Benign; Likely benign	rs146925326, rs2525632225	RCV005895227 RCV005934728
See cases	Uncertain significance	rs2148263704	RCV002252460
SUDDEN INFANT DEATH SYNDROME	Uncertain significance	rs964205254	RCV001787409
Thymoma	Benign	rs146925326	RCV005895231
Thyroid cancer, nonmedullary, 1	Likely benign; Uncertain significance; Benign	rs775320246, rs1934600580, rs369867857, rs146925326, rs972892187	RCV005912903 RCV005925501 RCV005926671 RCV005895232 RCV005900299
Uterine corpus endometrial carcinoma	Benign	rs146925326	RCV005895235
Uveal melanoma	Benign	rs146925326	RCV005895224

Show/Hide Text Mining Associations (22)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
Azoospermia Nonobstructive	Associate	36017582
Brain Diseases	Associate	23934111, 27476654, 29190809, 33734437, 37469072, 39311797
Cataract congenital with microcornea or slight microphthalmia	Associate	33734437
Congenital Disorders of Glycosylation	Associate	33407696, 35327592, 37469072, 39311797
Developmental Disabilities	Associate	33734437, 37469072
Drug Resistant Epilepsy	Associate	39311797
Endocrine System Diseases	Associate	37469072
Epilepsy	Associate	29190809
Glycogen Storage Disease XIV	Associate	33734437
Hypersensitivity Immediate	Associate	35327592
Infections	Associate	39311797
Intellectual Disability	Associate	33734437, 37469072, 39311797
Iridogoniodysgenesis and skeletal anomalies	Associate	39311797
Leiomyoma	Associate	21685710
Movement Disorders	Associate	39311797
Neoplasms	Associate	24912852
Neurologic Manifestations	Associate	39311797
Osteoporosis	Associate	27856519
Osteoporotic Fractures	Associate	27856519
Spasm	Associate	37583270
Spasms Infantile	Associate	33734437, 37583270, 39311797
Vision Disorders	Associate	37469072

ALG13 (ALG13 UDP-N-acetylglucosaminyltransferase subunit)