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Protein

Alpha-1,3/1,6-mannosyltransferase ALG2

Gene

ALG2

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 5 out of 5-Experimental evidence at protein leveli

Functioni

Mannosylates Man2GlcNAc2-dolichol diphosphate and Man1GlcNAc2-dolichol diphosphate to form Man3GlcNAc2-dolichol diphosphate.1 Publication

Catalytic activityi

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

Pathwayi: protein glycosylation

This protein is involved in the pathway protein glycosylation, which is part of Protein modification.
View all proteins of this organism that are known to be involved in the pathway protein glycosylation and in Protein modification.

GO - Molecular functioni

  • alpha-1,3-mannosyltransferase activity Source: UniProtKB
  • calcium-dependent protein binding Source: UniProtKB
  • GDP-Man:Man1GlcNAc2-PP-Dol alpha-1,3-mannosyltransferase activity Source: UniProtKB-EC
  • GDP-Man:Man2GlcNAc2-PP-dolichol alpha-1,6-mannosyltransferase activity Source: UniProtKB-EC
  • protein heterodimerization activity Source: UniProtKB
  • protein N-terminus binding Source: UniProtKB

GO - Biological processi

  • dolichol-linked oligosaccharide biosynthetic process Source: UniProtKB
  • protein glycosylation in endoplasmic reticulum Source: UniProtKB
  • response to calcium ion Source: UniProtKB

Keywordsi

Molecular functionGlycosyltransferase, Transferase

Enzyme and pathway databases

BRENDAi2.4.1.132. 2681.
ReactomeiR-HSA-446193. Biosynthesis of the N-glycan precursor (dolichol lipid-linked oligosaccharide, LLO) and transfer to a nascent protein.
UniPathwayiUPA00378.

Protein family/group databases

CAZyiGT4. Glycosyltransferase Family 4.

Names & Taxonomyi

Protein namesi
Recommended name:
Alpha-1,3/1,6-mannosyltransferase ALG2 (EC:2.4.1.132, EC:2.4.1.257)
Alternative name(s):
Asparagine-linked glycosylation protein 2 homolog
GDP-Man:Man(1)GlcNAc(2)-PP-Dol alpha-1,3-mannosyltransferase
GDP-Man:Man(1)GlcNAc(2)-PP-dolichol mannosyltransferase
GDP-Man:Man(2)GlcNAc(2)-PP-Dol alpha-1,6-mannosyltransferase
Gene namesi
Name:ALG2
ORF Names:UNQ666/PRO1298
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 9

Organism-specific databases

EuPathDBiHostDB:ENSG00000119523.9.
HGNCiHGNC:23159. ALG2.

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
Transmembranei85 – 105HelicalSequence analysisAdd BLAST21

Keywords - Cellular componenti

Membrane

Pathology & Biotechi

Involvement in diseasei

Congenital disorder of glycosylation 1I (CDG1I)1 Publication
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:607906
Myasthenic syndrome, congenital, 14 (CMS14)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA form of congenital myasthenic syndrome, a group of disorders characterized by failure of neuromuscular transmission, including pre-synaptic, synaptic, and post-synaptic disorders that are not of autoimmune origin. Clinical features are easy fatigability and muscle weakness. CMS14 is an autosomal recessive form characterized by onset of limb-girdle muscle weakness in early childhood. The disorder is slowly progressive, and some patients may become wheelchair-bound.
See also OMIM:616228
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_07333268V → G in CMS14; shows severely reduced expression of the mutant protein. 1 PublicationCorresponds to variant dbSNP:rs730882051Ensembl.1

Keywords - Diseasei

Congenital disorder of glycosylation, Congenital myasthenic syndrome, Disease mutation

Organism-specific databases

DisGeNETi85365.
GeneReviewsiALG2.
MalaCardsiALG2.
MIMi607906. phenotype.
616228. phenotype.
OpenTargetsiENSG00000119523.
Orphaneti79326. ALG2-CDG.
353327. Congenital myasthenic syndromes with glycosylation defect.
PharmGKBiPA134956849.

Polymorphism and mutation databases

BioMutaiALG2.
DMDMi46395991.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00000802601 – 416Alpha-1,3/1,6-mannosyltransferase ALG2Add BLAST416

Proteomic databases

EPDiQ9H553.
MaxQBiQ9H553.
PaxDbiQ9H553.
PeptideAtlasiQ9H553.
PRIDEiQ9H553.

PTM databases

iPTMnetiQ9H553.
PhosphoSitePlusiQ9H553.

Expressioni

Gene expression databases

BgeeiENSG00000119523.
CleanExiHS_ALG2.
ExpressionAtlasiQ9H553. baseline and differential.
GenevisibleiQ9H553. HS.

Organism-specific databases

HPAiHPA041512.
HPA041601.

Interactioni

GO - Molecular functioni

  • calcium-dependent protein binding Source: UniProtKB
  • protein heterodimerization activity Source: UniProtKB
  • protein N-terminus binding Source: UniProtKB

Protein-protein interaction databases

BioGridi124493. 19 interactors.
STRINGi9606.ENSP00000417764.

Structurei

3D structure databases

ProteinModelPortaliQ9H553.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Sequence similaritiesi

Keywords - Domaini

Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiKOG0853. Eukaryota.
COG0438. LUCA.
GeneTreeiENSGT00550000075033.
HOGENOMiHOG000177048.
HOVERGENiHBG009445.
InParanoidiQ9H553.
KOiK03843.
OMAiYMQCPVI.
OrthoDBiEOG091G0AE2.
PhylomeDBiQ9H553.
TreeFamiTF106000.

Family and domain databases

InterProiView protein in InterPro
IPR001296. Glyco_trans_1.
IPR028098. Glyco_trans_4-like_N.
PfamiView protein in Pfam
PF13439. Glyco_transf_4. 1 hit.
PF00534. Glycos_transf_1. 1 hit.

Sequences (2)i

Sequence statusi: Complete.

This entry describes 2 isoformsi produced by alternative splicing. AlignAdd to basket

Isoform 1 (identifier: Q9H553-1) [UniParc]FASTAAdd to basket

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide

        10         20         30         40         50
MAEEQGRERD SVPKPSVLFL HPDLGVGGAE RLVLDAALAL QARGCSVKIW
60 70 80 90 100
TAHYDPGHCF AESRELPVRC AGDWLPRGLG WGGRGAAVCA YVRMVFLALY
110 120 130 140 150
VLFLADEEFD VVVCDQVSAC IPVFRLARRR KKILFYCHFP DLLLTKRDSF
160 170 180 190 200
LKRLYRAPID WIEEYTTGMA DCILVNSQFT AAVFKETFKS LSHIDPDVLY
210 220 230 240 250
PSLNVTSFDS VVPEKLDDLV PKGKKFLLLS INRYERKKNL TLALEALVQL
260 270 280 290 300
RGRLTSQDWE RVHLIVAGGY DERVLENVEH YQELKKMVQQ SDLGQYVTFL
310 320 330 340 350
RSFSDKQKIS LLHSCTCVLY TPSNEHFGIV PLEAMYMQCP VIAVNSGGPL
360 370 380 390 400
ESIDHSVTGF LCEPDPVHFS EAIEKFIREP SLKATMGLAG RARVKEKFSP
410
EAFTEQLYRY VTKLLV
Length:416
Mass (Da):47,092
Last modified:March 1, 2001 - v1
Checksum:i778DB1FD069E7F29
GO
Isoform 2 (identifier: Q9H553-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-91: Missing.
     92-116: VRMVFLALYVLFLADEEFDVVVCDQ → MPLLKLVHGSPLVFGEKFKLFTL

Show »
Length:323
Mass (Da):37,017
Checksum:iC8506E37A7E15848
GO

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti178Q → R in BAC11449 (PubMed:12975309).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_04935111S → P. Corresponds to variant dbSNP:rs11545137Ensembl.1
Natural variantiVAR_07333268V → G in CMS14; shows severely reduced expression of the mutant protein. 1 PublicationCorresponds to variant dbSNP:rs730882051Ensembl.1
Natural variantiVAR_049352367V → A. Corresponds to variant dbSNP:rs35626507Ensembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_0131881 – 91Missing in isoform 2. 2 PublicationsAdd BLAST91
Alternative sequenceiVSP_01318992 – 116VRMVF…VVCDQ → MPLLKLVHGSPLVFGEKFKL FTL in isoform 2. 2 PublicationsAdd BLAST25

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AB161356 mRNA. Translation: BAD11905.1.
AY358697 mRNA. Translation: AAQ89060.1.
AK027417 mRNA. Translation: BAB55099.1.
AK074704 mRNA. Translation: BAC11150.1.
AK074988 mRNA. Translation: BAC11337.1.
AK075172 mRNA. Translation: BAC11449.1.
AL137067 Genomic DNA. No translation available.
BC017876 mRNA. Translation: AAH17876.1.
CCDSiCCDS6739.1. [Q9H553-1]
RefSeqiNP_149078.1. NM_033087.3. [Q9H553-1]
UniGeneiHs.40919.

Genome annotation databases

EnsembliENST00000319033; ENSP00000326609; ENSG00000119523. [Q9H553-2]
ENST00000476832; ENSP00000417764; ENSG00000119523. [Q9H553-1]
GeneIDi85365.
KEGGihsa:85365.
UCSCiuc004azf.4. human. [Q9H553-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Similar proteinsi

Entry informationi

Entry nameiALG2_HUMAN
AccessioniPrimary (citable) accession number: Q9H553
Secondary accession number(s): A2A2Y0, Q8NBX2, Q8NC39
Entry historyiIntegrated into UniProtKB/Swiss-Prot: April 13, 2004
Last sequence update: March 1, 2001
Last modified: September 27, 2017
This is version 147 of the entry and version 1 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

Documents

  1. Human chromosome 9
    Human chromosome 9: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. PATHWAY comments
    Index of metabolic and biosynthesis pathways
  6. SIMILARITY comments
    Index of protein domains and families