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	440138
Gene name	ALG11 alpha-1,2-mannosyltransferase
Gene symbol	ALG11
Synonyms (NCBI Gene)	CDG1PGT8
Chromosome	13
Chromosome location	13q14.3
Summary	This gene encodes a GDP-Man:Man3GlcNAc2-PP-dolichol-alpha1,2-mannosyltransferase which is localized to the cytosolic side of the endoplasmic reticulum (ER) and catalyzes the transfer of the fourth and fifth mannose residue from GDP-mannose (GDP-Man) to Ma

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SNP ID	Visualize variation	Clinical significance	Consequence
rs267606652	T>C	Pathogenic	Coding sequence variant, missense variant, intron variant

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miRTarBase ID	miRNA	Experiments
MIRT2473099	hsa-miR-4452	CLIP-seq
MIRT2473100	hsa-miR-4699-3p	CLIP-seq
MIRT2473101	hsa-miR-493	CLIP-seq
MIRT2473099	hsa-miR-4452	CLIP-seq
MIRT2473100	hsa-miR-4699-3p	CLIP-seq

Show/Hide all (17)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000026	Function	Alpha-1,2-mannosyltransferase activity	TAS
GO:0004377	Function	GDP-Man:Man(3)GlcNAc(2)-PP-Dol alpha-1,2-mannosyltransferase activity	IBA
GO:0004377	Function	GDP-Man:Man(3)GlcNAc(2)-PP-Dol alpha-1,2-mannosyltransferase activity	IDA	20080937
GO:0004377	Function	GDP-Man:Man(3)GlcNAc(2)-PP-Dol alpha-1,2-mannosyltransferase activity	IEA
GO:0005515	Function	Protein binding	IPI	33961781
GO:0005783	Component	Endoplasmic reticulum	IEA
GO:0005789	Component	Endoplasmic reticulum membrane	IBA
GO:0005789	Component	Endoplasmic reticulum membrane	IDA	20080937
GO:0005789	Component	Endoplasmic reticulum membrane	IEA
GO:0005789	Component	Endoplasmic reticulum membrane	TAS
GO:0006487	Process	Protein N-linked glycosylation	IMP	20080937
GO:0006488	Process	Dolichol-linked oligosaccharide biosynthetic process	IBA
GO:0006488	Process	Dolichol-linked oligosaccharide biosynthetic process	IMP	20080937
GO:0016020	Component	Membrane	HDA	19946888
GO:0016020	Component	Membrane	IEA
GO:0016740	Function	Transferase activity	IEA
GO:0016757	Function	Glycosyltransferase activity	IEA

MIM	HGNC	e!Ensembl
613666	32456	ENSG00000253710

Q2TAA5

Protein name

GDP-Man:Man(3)GlcNAc(2)-PP-Dol alpha-1,2-mannosyltransferase (EC 2.4.1.131) (Asparagine-linked glycosylation protein 11 homolog) (Glycolipid 2-alpha-mannosyltransferase)

Protein function

GDP-Man:Man(3)GlcNAc(2)-PP-Dol alpha-1,2-mannosyltransferase that operates in the biosynthetic pathway of dolichol-linked oligosaccharides, the glycan precursors employed in protein asparagine (N)-glycosylation. The assembly of dolichol-linked o

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF15924	ALG11_N	62 → 269	ALG11 mannosyltransferase N-terminus	Family
PF00534	Glycos_transf_1	293 → 470	Glycosyl transferases group 1	Family

Sequence

MAAGERSWCLCKLLRFFYSLFFPGLIVCGTLCVCLVIVLWGIRLLLQRKKKLVSTSKNGK
NQMVIAFFHPYCNAGGGGERVLWCALRALQKKYPEAVYVVYTGDVNVNGQQILEGAFRRF
NIRLIHPVQFVFLRKRYLVEDSLYPHFTLLGQSLGSIFLGWEALMQCVPDVYIDSMGYAF
TLPLFKYIGGCQVGSYVHYPTISTDMLSVVKNQNIGFNNAAFITRNPFLSKVKLIYYYLF
AFIYGLVGSCSDVVMVNSSWTLNHILSLWKVGNCTNIVYPPCDVQTFLDIPLHEKKMTPG
HLLVSVGQFRPEKNHPLQIRAFAKLLNKKMVESPPSLKLVLIGGCRNKDDELRVNQLRRL
SEDLGVQEYVEFKINIPFDELKNYLSEATIGLHTMWNEHFGIGVVECMAAGTIILAHNSG
GPKLDIVVPHEGDITGFLAESEEDYAETIAHILSMSAEKRLQIRKSARASVSRFSDQEFE
VTFLSSVEKLFK

Sequence length

492

Interactions

View interactions

	KEGG		Reactome
	N-Glycan biosynthesis Various types of N-glycan biosynthesis Metabolic pathways		Defective ALG11 causes ALG11-CDG (CDG-1p)

136

Show/Hide Causal Diseases (3)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
ALG11-congenital disorder of glycosylation	Likely pathogenic; Pathogenic	rs921941078, rs2140840645, rs748982784, rs267606652, rs1204420316, rs1291722156, rs387907180, rs387907181, rs387907182, rs387907184, rs1064795802, rs1064795803	RCV001330082 RCV001580273 RCV003634014 RCV000000004 RCV004595725 RCV004595726 RCV000024339 RCV000024340 RCV000024341 RCV000024343 RCV001200937 RCV001200938
ALG11-related disorder	Likely pathogenic; Pathogenic	rs387907180, rs387907181	RCV004758599 RCV004758600
Seizure	Pathogenic	rs2547343671	RCV004585210

Show/Hide Unknown Diseases (16)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Acute myeloid leukemia	Benign	rs17480245	RCV005889899
Adrenocortical carcinoma, hereditary	Benign	rs17480245	RCV005889901
Cervical cancer	Benign	rs17480245	RCV005889902
Cholangiocarcinoma	Benign	rs17480245	RCV005889909
Colon adenocarcinoma	Uncertain significance	rs139798579	RCV005893239
Colorectal cancer	Benign	rs17480245	RCV005889903
Congenital disorder of glycosylation	Uncertain significance	rs886050315	RCV000336422
Gastric cancer	Benign	rs17480245	RCV005889904
Lung cancer	Benign	rs17480245	RCV005889910
Melanoma	Benign	rs17480245	RCV005889908
Nonpapillary renal cell carcinoma	Benign	rs17480245	RCV005889900
Ovarian serous cystadenocarcinoma	Benign	rs17480245	RCV005889905
Papillary renal cell carcinoma type 1	Uncertain significance	rs139798579	RCV005893240
Thymoma	Benign	rs17480245	RCV005889906
Thyroid cancer, nonmedullary, 1	Benign	rs17480245	RCV005889907
Uterine corpus endometrial carcinoma	Benign	rs17480245	RCV005889911

Show/Hide Text Mining Associations (7)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
Chordoma	Associate	24503940
Congenital Disorders of Glycosylation	Associate	30676690, 30770273, 34440401
Epilepsy	Associate	30676690
Fetal Diseases	Associate	30770273
Glycogen Storage Disease XIV	Associate	30676690, 38256263
Microcephaly	Associate	30770273
Psychomotor Disorders	Associate	30676690

ALG11 (ALG11 alpha-1,2-mannosyltransferase)