Gene/Proteome Database (LMPD)

LMPD ID
LMP012351
Gene ID
10195
Species
Homo sapiens (Human)
Gene Name
ALG3, alpha-1,3- mannosyltransferase
Gene Symbol
ALG3
Synonyms
CDG1D; CDGS4; Not56; NOT56L; D16Ertd36e;
Chromosome
3
Map Location
3q27.1
EC Number
2.4.1.258
Summary
This gene encodes a member of the ALG3 family. The encoded protein catalyses the addition of the first dol-P-Man derived mannose in an alpha 1,3 linkage to Man5GlcNAc2-PP-Dol. Defects in this gene have been associated with congenital disorder of glycosylation type Id (CDG-Id) characterized by abnormal N-glycosylation. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2008]
Orthologs
View orthologs and multiple alignments for ALG3

Proteins

dol-P-Man:Man(5)GlcNAc(2)-PP-Dol alpha-1,3-mannosyltransferase isoform a
Refseq ID NP_005778
Protein GI 5031953
UniProt ID Q92685
mRNA ID NM_005787
Length 438
MAAGLRKRGRSGSAAQAEGLCKQWLQRAWQERRLLLREPRYTLLVAACLCLAEVGITFWVIHRVAYTEIDWKAYMAEVEGVINGTYDYTQLQGDTGPLVYPAGFVYIFMGLYYATSRGTDIRMAQNIFAVLYLATLLLVFLIYHQTCKVPPFVFFFMCCASYRVHSIFVLRLFNDPVAMVLLFLSINLLLAQRWGWGCCFFSLAVSVKMNVLLFAPGLLFLLLTQFGFRGALPKLGICAGLQVVLGLPFLLENPSGYLSRSFDLGRQFLFHWTVNWRFLPEALFLHRAFHLALLTAHLTLLLLFALCRWHRTGESILSLLRDPSKRKVPPQPLTPNQIVSTLFTSNFIGICFSRSLHYQFYVWYFHTLPYLLWAMPARWLTHLLRLLVLGLIELSWNTYPSTSCSSAALHICHAVILLQLWLGPQPFPKSTQHSKKAH
dol-P-Man:Man(5)GlcNAc(2)-PP-Dol alpha-1,3-mannosyltransferase isoform d
Refseq ID NP_001006942
Protein GI 55743086
UniProt ID Q92685
mRNA ID NM_001006941
Length 390
MFPAQAKENAGFSGCGGDTEIDWKAYMAEVEGVINGTYDYTQLQGDTGPLVYPAGFVYIFMGLYYATSRGTDIRMAQNIFAVLYLATLLLVFLIYHQTCKVPPFVFFFMCCASYRVHSIFVLRLFNDPVAMVLLFLSINLLLAQRWGWGCCFFSLAVSVKMNVLLFAPGLLFLLLTQFGFRGALPKLGICAGLQVVLGLPFLLENPSGYLSRSFDLGRQFLFHWTVNWRFLPEALFLHRAFHLALLTAHLTLLLLFALCRWHRTGESILSLLRDPSKRKVPPQPLTPNQIVSTLFTSNFIGICFSRSLHYQFYVWYFHTLPYLLWAMPARWLTHLLRLLVLGLIELSWNTYPSTSCSSAALHICHAVILLQLWLGPQPFPKSTQHSKKAH

Gene Information

Entrez Gene ID
10195
Gene Name
ALG3, alpha-1,3- mannosyltransferase
Gene Symbol
ALG3
Species
Homo sapiens

Gene Ontology (GO Annotations)

GO ID Source Type Description
GO:0005789 IDA:UniProtKB C endoplasmic reticulum membrane
GO:0016021 IEA:UniProtKB-KW C integral component of membrane
GO:0000033 IDA:UniProtKB F alpha-1,3-mannosyltransferase activity
GO:0052925 IEA:UniProtKB-EC F dol-P-Man:Man(5)GlcNAc(2)-PP-Dol alpha-1,3-mannosyltransferase activity
GO:0044267 TAS:Reactome P cellular protein metabolic process
GO:0006488 TAS:Reactome P dolichol-linked oligosaccharide biosynthetic process
GO:0097502 IDA:GOC P mannosylation
GO:0043687 TAS:Reactome P post-translational protein modification
GO:0018279 TAS:Reactome P protein N-linked glycosylation via asparagine
GO:0006486 NAS:UniProtKB P protein glycosylation

KEGG Pathway Links

KEGG Pathway ID Description
hsa01100 Metabolic pathways
hsa00510 N-Glycan biosynthesis
ko00510 N-Glycan biosynthesis
M00055 N-glycan precursor biosynthesis

BIOCYC Pathway Links

BIOCYC Pathway ID Description
MANNOSYL-CHITO-DOLICHOL-BIOSYNTHESIS dolichyl-diphosphooligosaccharide biosynthesis

REACTOME Pathway Links

REACTOME Pathway ID Description
REACT_22426 Asparagine N-linked glycosylation
REACT_22433 Biosynthesis of the N-glycan precursor (dolichol lipid-linked oligosaccharide, LLO) and transfer to a nascent protein
REACT_17015 Metabolism of proteins
REACT_22161 Post-translational protein modification

Domain Information

InterPro Annotations

Accession Description
IPR007873 Glycosyltransferase, ALG3

UniProt Annotations

Entry Information

Gene Name
ALG3, alpha-1,3- mannosyltransferase
UniProt ID
Q92685
Species
Human

Comments

Comment Type Description
Alternative Products Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=Q92685-1; Sequence=Displayed; Name=2; IsoId=Q92685-2; Sequence=VSP_042738; Note=No experimental confirmation available.;
Catalytic Activity Dolichyl beta-D-mannosyl phosphate + 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 = D-Man-alpha-(1->2)-D-Man-alpha-(1->2)-D-Man- alpha-(1->3)-(D-Man-alpha-(1->3)-D-Man-alpha-(1->6))-D-Man-beta- (1->4)-D-GlcNAc-beta-(1->4)-D-GlcNAc-diphosphodolichol + dolichyl phosphate.
Disease Congenital disorder of glycosylation 1D (CDG1D) [MIM:601110]: 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. {ECO:0000269|PubMed:10581255, ECO:0000269|PubMed:15840742}. Note=The disease is caused by mutations affecting the gene represented in this entry.
Function Adds the first Dol-P-Man derived mannose in an alpha-1,3 linkage to Man5GlcNAc2-PP-Dol
Pathway Protein modification; protein glycosylation.
Similarity Belongs to the glycosyltransferase 58 family
Subcellular Location Endoplasmic reticulum membrane {ECO:0000305}; Multi-pass membrane protein
Web Resource Name=GGDB; Note=GlycoGene database; URL="http://jcggdb.jp/rcmg/ggdb/Homolog?cat=symbol&symbol=ALG3";

Identical and Related Proteins

Unique RefSeq proteins for LMP012351 (as displayed in Record Overview)

Protein GI Database Accession Length Protein Name
5031953 RefSeq NP_005778 438 dol-P-Man:Man(5)GlcNAc(2)-PP-Dol alpha-1,3-mannosyltransferase isoform a
55743086 RefSeq NP_001006942 390 dol-P-Man:Man(5)GlcNAc(2)-PP-Dol alpha-1,3-mannosyltransferase isoform d

Identical Sequences to LMP012351 proteins

Reference Database Accession Length Protein Name

Related Sequences to LMP012351 proteins

Reference Database Accession Length Protein Name