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Protein

GDP-Man:Man(3)GlcNAc(2)-PP-Dol alpha-1,2-mannosyltransferase

Gene

ALG11

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -Experimental evidence at protein leveli

Functioni

Mannosyltransferase involved in the last steps of the synthesis of Man5GlcNAc2-PP-dolichol core oligosaccharide on the cytoplasmic face of the endoplasmic reticulum. Catalyzes the addition of the 4th and 5th mannose residues to the dolichol-linked oligosaccharide chain.1 Publication

Catalytic activityi

2 GDP-alpha-D-mannose + D-Man-alpha-(1->3)-(D-Man-alpha-(1->6))-D-Man-beta-(1->4)-D-GlcNAc-beta-(1->4)-D-GlcNAc-diphosphodolichol = 2 GDP + D-Man-alpha-(1->2)-D-Man-alpha-(1->2)-D-Man-alpha-(1->3)-(D-Man-alpha-(1->6))-D-Man-beta-(1->4)-D-GlcNAc-beta-(1->4)-D-GlcNAc-diphosphodolichol.1 Publication

GO - Molecular functioni

GO - Biological processi

Keywordsi

Molecular functionGlycosyltransferase, Transferase

Enzyme and pathway databases

BRENDAi2.4.1.131 2681
ReactomeiR-HSA-446193 Biosynthesis of the N-glycan precursor (dolichol lipid-linked oligosaccharide, LLO) and transfer to a nascent protein
R-HSA-4551295 Defective ALG11 causes ALG11-CDG (CDG-1p)

Protein family/group databases

CAZyiGT4 Glycosyltransferase Family 4

Names & Taxonomyi

Protein namesi
Recommended name:
GDP-Man:Man(3)GlcNAc(2)-PP-Dol alpha-1,2-mannosyltransferase (EC:2.4.1.131)
Alternative name(s):
Asparagine-linked glycosylation protein 11 homolog
Glycolipid 2-alpha-mannosyltransferase
Gene namesi
Name:ALG11
Synonyms:GT8
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 13

Organism-specific databases

EuPathDBiHostDB:ENSG00000253710.2
HGNCiHGNC:32456 ALG11
MIMi613666 gene
neXtProtiNX_Q2TAA5

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Topology

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Transmembranei20 – 40HelicalSequence analysisAdd BLAST21
Transmembranei234 – 254HelicalSequence analysisAdd BLAST21

Keywords - Cellular componenti

Endoplasmic reticulum, Membrane

Pathology & Biotechi

Involvement in diseasei

Congenital disorder of glycosylation 1P (CDG1P)2 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA form of congenital disorder of glycosylation, a multisystem disorder caused by a defect in glycoprotein biosynthesis and characterized by under-glycosylated serum glycoproteins. Congenital disorders of glycosylation result in a wide variety of clinical features, such as defects in the nervous system development, psychomotor retardation, dysmorphic features, hypotonia, coagulation disorders, and immunodeficiency. The broad spectrum of features reflects the critical role of N-glycoproteins during embryonic development, differentiation, and maintenance of cell functions.
See also OMIM:613661
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_06490886L → S in CDG1P; does not affect subcellular localization; results in the accumulation of under-glycosylated proteins. 1 PublicationCorresponds to variant dbSNP:rs267606652EnsemblClinVar.1
Natural variantiVAR_068070279Y → S in CDG1P. 1 PublicationCorresponds to variant dbSNP:rs387907181EnsemblClinVar.1
Natural variantiVAR_068071318Q → P in CDG1P. 1 PublicationCorresponds to variant dbSNP:rs387907184EnsemblClinVar.1
Natural variantiVAR_068072381L → S in CDG1P. 1 PublicationCorresponds to variant dbSNP:rs387907182EnsemblClinVar.1
Natural variantiVAR_068073398E → K in CDG1P. 1 PublicationCorresponds to variant dbSNP:rs387907183EnsemblClinVar.1

Mutagenesis

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Mutagenesisi86L → A: Does not affect function. 1 Publication1
Mutagenesisi86L → P: Loss of function. 1 Publication1

Keywords - Diseasei

Congenital disorder of glycosylation, Disease mutation

Organism-specific databases

DisGeNETi440138
GeneReviewsiALG11
MalaCardsiALG11
MIMi613661 phenotype
OpenTargetsiENSG00000253710
Orphaneti280071 ALG11-CDG

Polymorphism and mutation databases

BioMutaiALG11
DMDMi156631015

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00002956161 – 492GDP-Man:Man(3)GlcNAc(2)-PP-Dol alpha-1,2-mannosyltransferaseAdd BLAST492

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Glycosylationi257N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi273N-linked (GlcNAc...) asparagineSequence analysis1

Keywords - PTMi

Glycoprotein

Proteomic databases

EPDiQ2TAA5
MaxQBiQ2TAA5
PaxDbiQ2TAA5
PeptideAtlasiQ2TAA5
PRIDEiQ2TAA5

PTM databases

iPTMnetiQ2TAA5
PhosphoSitePlusiQ2TAA5

Expressioni

Gene expression databases

BgeeiENSG00000253710
CleanExiHS_ALG11
ExpressionAtlasiQ2TAA5 baseline and differential

Organism-specific databases

HPAiHPA047214

Interactioni

Protein-protein interaction databases

BioGridi136328, 12 interactors
STRINGi9606.ENSP00000430236

Structurei

3D structure databases

ProteinModelPortaliQ2TAA5
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Sequence similaritiesi

Keywords - Domaini

Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiKOG1387 Eukaryota
COG0438 LUCA
GeneTreeiENSGT00550000075118
HOGENOMiHOG000209670
HOVERGENiHBG057178
InParanoidiQ2TAA5
KOiK03844
OMAiYTGDHEV
OrthoDBiEOG091G0803
PhylomeDBiQ2TAA5
TreeFamiTF313056

Family and domain databases

CDDicd03806 GT1_ALG11_like, 1 hit
InterProiView protein in InterPro
IPR038013 ALG11
IPR031814 ALG11_N
IPR001296 Glyco_trans_1
PfamiView protein in Pfam
PF15924 ALG11_N, 1 hit
PF00534 Glycos_transf_1, 1 hit

Sequencei

Sequence statusi: Complete.

Q2TAA5-1 [UniParc]FASTAAdd to basket

« Hide

        10         20         30         40         50
MAAGERSWCL CKLLRFFYSL FFPGLIVCGT LCVCLVIVLW GIRLLLQRKK
60 70 80 90 100
KLVSTSKNGK NQMVIAFFHP YCNAGGGGER VLWCALRALQ KKYPEAVYVV
110 120 130 140 150
YTGDVNVNGQ QILEGAFRRF NIRLIHPVQF VFLRKRYLVE DSLYPHFTLL
160 170 180 190 200
GQSLGSIFLG WEALMQCVPD VYIDSMGYAF TLPLFKYIGG CQVGSYVHYP
210 220 230 240 250
TISTDMLSVV KNQNIGFNNA AFITRNPFLS KVKLIYYYLF AFIYGLVGSC
260 270 280 290 300
SDVVMVNSSW TLNHILSLWK VGNCTNIVYP PCDVQTFLDI PLHEKKMTPG
310 320 330 340 350
HLLVSVGQFR PEKNHPLQIR AFAKLLNKKM VESPPSLKLV LIGGCRNKDD
360 370 380 390 400
ELRVNQLRRL SEDLGVQEYV EFKINIPFDE LKNYLSEATI GLHTMWNEHF
410 420 430 440 450
GIGVVECMAA GTIILAHNSG GPKLDIVVPH EGDITGFLAE SEEDYAETIA
460 470 480 490
HILSMSAEKR LQIRKSARAS VSRFSDQEFE VTFLSSVEKL FK
Length:492
Mass (Da):55,651
Last modified:July 24, 2007 - v2
Checksum:i1B3B0789030777FC
GO

Sequence cautioni

The sequence AAI11023 differs from that shown. Reason: Frameshift at position 16.Curated

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti96A → V in AAI42999 (PubMed:15489334).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_06490886L → S in CDG1P; does not affect subcellular localization; results in the accumulation of under-glycosylated proteins. 1 PublicationCorresponds to variant dbSNP:rs267606652EnsemblClinVar.1
Natural variantiVAR_055902108N → S. Corresponds to variant dbSNP:rs17480245EnsemblClinVar.1
Natural variantiVAR_068070279Y → S in CDG1P. 1 PublicationCorresponds to variant dbSNP:rs387907181EnsemblClinVar.1
Natural variantiVAR_068071318Q → P in CDG1P. 1 PublicationCorresponds to variant dbSNP:rs387907184EnsemblClinVar.1
Natural variantiVAR_068072381L → S in CDG1P. 1 PublicationCorresponds to variant dbSNP:rs387907182EnsemblClinVar.1
Natural variantiVAR_068073398E → K in CDG1P. 1 PublicationCorresponds to variant dbSNP:rs387907183EnsemblClinVar.1

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AK296747 mRNA Translation: BAG59331.1
AL139082 Genomic DNA No translation available.
BC073862 mRNA Translation: AAH73862.1
BC010857 mRNA Translation: AAH10857.3
BC111022 mRNA Translation: AAI11023.1 Sequence problems.
BC142998 mRNA Translation: AAI42999.1
CCDSiCCDS31977.1
RefSeqiNP_001004127.2, NM_001004127.2
UniGeneiHs.512963
Hs.732220

Genome annotation databases

EnsembliENST00000521508; ENSP00000430236; ENSG00000253710
GeneIDi440138
KEGGihsa:440138
UCSCiuc001vga.4 human

Keywords - Coding sequence diversityi

Polymorphism

Similar proteinsi

Entry informationi

Entry nameiALG11_HUMAN
AccessioniPrimary (citable) accession number: Q2TAA5
Secondary accession number(s): A5PLP3
, B4DKW9, Q5TAN9, Q6DKI6, Q96FI7
Entry historyiIntegrated into UniProtKB/Swiss-Prot: July 24, 2007
Last sequence update: July 24, 2007
Last modified: May 23, 2018
This is version 112 of the entry and version 2 of the sequence. See complete history.
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

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