UniProtKB - Q92685 (ALG3_HUMAN)
Protein
Dol-P-Man:Man(5)GlcNAc(2)-PP-Dol alpha-1,3-mannosyltransferase
Gene
ALG3
Organism
Homo sapiens (Human)
Status
Functioni
Adds the first Dol-P-Man derived mannose in an alpha-1,3 linkage to Man5GlcNAc2-PP-Dol.1 Publication
Catalytic activityi
- α-D-Man-(1→2)-α-D-Man-(1→2)-α-D-Man-(1→3)-[α-D-Man-(1→6)]-β-D-Man-(1→4)-β-D-GlcNAc-(1→4)-α-D-GlcNAc-diphosphodolichol + dolichyl β-D-mannosyl phosphate = α-D-Man-(1→2)-α-D-Man-(1→2)-α-D-Man-(1→3)-[α-D-Man-(1→3)-α-D-Man-(1→6)]-β-D-Man-(1→4)-β-D-GlcNAc-(1→4)-α-D-GlcNAc-diphosphodolichol + dolichyl phosphate + H+EC:2.4.1.258
: protein glycosylation Pathwayi
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
- dol-P-Man:Man(5)GlcNAc(2)-PP-Dol alpha-1,3-mannosyltransferase activity Source: GO_Central
GO - Biological processi
- dolichol-linked oligosaccharide biosynthetic process Source: Reactome
- protein glycosylation Source: GO_Central
Keywordsi
Molecular function | Glycosyltransferase, Transferase |
Enzyme and pathway databases
BRENDAi | 2.4.1.258, 2681 |
PathwayCommonsi | Q92685 |
Reactomei | R-HSA-446193, Biosynthesis of the N-glycan precursor (dolichol lipid-linked oligosaccharide, LLO) and transfer to a nascent protein R-HSA-4720475, Defective ALG3 causes ALG3-CDG (CDG-1d) |
UniPathwayi | UPA00378 |
Protein family/group databases
CAZyi | GT58, Glycosyltransferase Family 58 |
Names & Taxonomyi
Protein namesi | Recommended name: Dol-P-Man:Man(5)GlcNAc(2)-PP-Dol alpha-1,3-mannosyltransferase (EC:2.4.1.258)Alternative name(s): Asparagine-linked glycosylation protein 3 homolog Dol-P-Man-dependent alpha(1-3)-mannosyltransferase Dolichyl-P-Man:Man(5)GlcNAc(2)-PP-dolichyl mannosyltransferase Dolichyl-phosphate-mannose--glycolipid alpha-mannosyltransferase Not56-like protein |
Gene namesi | Name:ALG3 Synonyms:NOT, NOT56L |
Organismi | Homo sapiens (Human) |
Taxonomic identifieri | 9606 [NCBI] |
Taxonomic lineagei | Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo |
Proteomesi |
|
Organism-specific databases
HGNCi | HGNC:23056, ALG3 |
MIMi | 608750, gene |
neXtProti | NX_Q92685 |
VEuPathDBi | HostDB:ENSG00000214160.9 |
Subcellular locationi
Endoplasmic reticulum
- Endoplasmic reticulum membrane Curated; Multi-pass membrane protein Curated
Endoplasmic reticulum
- endoplasmic reticulum Source: GO_Central
- endoplasmic reticulum membrane Source: UniProtKB
Other locations
- integral component of membrane Source: UniProtKB-KW
Topology
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Transmembranei | 41 – 61 | HelicalSequence analysisAdd BLAST | 21 | |
Transmembranei | 95 – 115 | HelicalSequence analysisAdd BLAST | 21 | |
Transmembranei | 123 – 143 | HelicalSequence analysisAdd BLAST | 21 | |
Transmembranei | 149 – 169 | HelicalSequence analysisAdd BLAST | 21 | |
Transmembranei | 172 – 192 | HelicalSequence analysisAdd BLAST | 21 | |
Transmembranei | 203 – 223 | HelicalSequence analysisAdd BLAST | 21 | |
Transmembranei | 231 – 251 | HelicalSequence analysisAdd BLAST | 21 | |
Transmembranei | 289 – 309 | HelicalSequence analysisAdd BLAST | 21 | |
Transmembranei | 332 – 352 | HelicalSequence analysisAdd BLAST | 21 | |
Transmembranei | 356 – 376 | HelicalSequence analysisAdd BLAST | 21 | |
Transmembranei | 407 – 427 | HelicalSequence analysisAdd BLAST | 21 |
Keywords - Cellular componenti
Endoplasmic reticulum, MembranePathology & Biotechi
Involvement in diseasei
Congenital disorder of glycosylation 1D (CDG1D)2 Publications
The disease is caused by variants 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.
Related information in OMIMFeature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_010306 | 118 | G → D in CDG1D. 1 PublicationCorresponds to variant dbSNP:rs28940588EnsemblClinVar. | 1 | |
Natural variantiVAR_037806 | 171 | R → Q in CDG1D. 1 PublicationCorresponds to variant dbSNP:rs119103236EnsemblClinVar. | 1 |
Keywords - Diseasei
Congenital disorder of glycosylation, Disease variantOrganism-specific databases
DisGeNETi | 10195 |
GeneReviewsi | ALG3 |
MalaCardsi | ALG3 |
MIMi | 601110, phenotype |
OpenTargetsi | ENSG00000214160 |
Orphaneti | 79321, ALG3-CDG |
PharmGKBi | PA134897460 |
Miscellaneous databases
Pharosi | Q92685, Tdark |
Genetic variation databases
BioMutai | ALG3 |
DMDMi | 3024226 |
PTM / Processingi
Molecule processing
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
ChainiPRO_0000080566 | 1 – 438 | Dol-P-Man:Man(5)GlcNAc(2)-PP-Dol alpha-1,3-mannosyltransferaseAdd BLAST | 438 |
Amino acid modifications
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Modified residuei | 13 | PhosphoserineCombined sources | 1 |
Keywords - PTMi
PhosphoproteinProteomic databases
EPDi | Q92685 |
jPOSTi | Q92685 |
MassIVEi | Q92685 |
MaxQBi | Q92685 |
PaxDbi | Q92685 |
PeptideAtlasi | Q92685 |
PRIDEi | Q92685 |
ProteomicsDBi | 75406 [Q92685-1] 75407 [Q92685-2] |
PTM databases
iPTMneti | Q92685 |
PhosphoSitePlusi | Q92685 |
Expressioni
Gene expression databases
Bgeei | ENSG00000214160, Expressed in right adrenal gland and 173 other tissues |
ExpressionAtlasi | Q92685, baseline and differential |
Genevisiblei | Q92685, HS |
Organism-specific databases
HPAi | ENSG00000214160, Tissue enhanced (liver) |
Interactioni
Binary interactionsi
Hide detailsQ92685
Protein-protein interaction databases
BioGRIDi | 115490, 26 interactors |
IntActi | Q92685, 31 interactors |
MINTi | Q92685 |
STRINGi | 9606.ENSP00000380793 |
Miscellaneous databases
RNActi | Q92685, protein |
Family & Domainsi
Sequence similaritiesi
Belongs to the glycosyltransferase 58 family.Curated
Keywords - Domaini
Transmembrane, Transmembrane helixPhylogenomic databases
eggNOGi | KOG2762, Eukaryota |
GeneTreei | ENSGT00390000013904 |
InParanoidi | Q92685 |
OMAi | AAHVYIY |
OrthoDBi | 774318at2759 |
PhylomeDBi | Q92685 |
TreeFami | TF105870 |
Family and domain databases
InterProi | View protein in InterPro IPR007873, Glycosyltransferase_ALG3 |
PANTHERi | PTHR12646, PTHR12646, 1 hit |
Pfami | View protein in Pfam PF05208, ALG3, 1 hit |
s (2+)i Sequence
Sequence statusi: Complete.
This entry describes 2 produced by isoformsialternative splicing. AlignAdd to basketThis entry has 2 described isoforms and 5 potential isoforms that are computationally mapped.Show allAlign All
Isoform 1 (identifier: Q92685-1) [UniParc]FASTAAdd to basket
This isoform has been chosen as the sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry. canonicali
10 20 30 40 50
MAAGLRKRGR SGSAAQAEGL CKQWLQRAWQ ERRLLLREPR YTLLVAACLC
60 70 80 90 100
LAEVGITFWV IHRVAYTEID WKAYMAEVEG VINGTYDYTQ LQGDTGPLVY
110 120 130 140 150
PAGFVYIFMG LYYATSRGTD IRMAQNIFAV LYLATLLLVF LIYHQTCKVP
160 170 180 190 200
PFVFFFMCCA SYRVHSIFVL RLFNDPVAMV LLFLSINLLL AQRWGWGCCF
210 220 230 240 250
FSLAVSVKMN VLLFAPGLLF LLLTQFGFRG ALPKLGICAG LQVVLGLPFL
260 270 280 290 300
LENPSGYLSR SFDLGRQFLF HWTVNWRFLP EALFLHRAFH LALLTAHLTL
310 320 330 340 350
LLLFALCRWH RTGESILSLL RDPSKRKVPP QPLTPNQIVS TLFTSNFIGI
360 370 380 390 400
CFSRSLHYQF YVWYFHTLPY LLWAMPARWL THLLRLLVLG LIELSWNTYP
410 420 430
STSCSSAALH ICHAVILLQL WLGPQPFPKS TQHSKKAH
Computationally mapped potential isoform sequencesi
There are 5 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basketC9J7S5 | C9J7S5_HUMAN | Dol-P-Man:Man(5)GlcNAc(2)-PP-Dol al... | ALG3 | 398 | Annotation score: | ||
H7C0X4 | H7C0X4_HUMAN | Dol-P-Man:Man(5)GlcNAc(2)-PP-Dol al... | ALG3 | 323 | Annotation score: | ||
F8WE30 | F8WE30_HUMAN | Dol-P-Man:Man(5)GlcNAc(2)-PP-Dol al... | ALG3 | 107 | Annotation score: | ||
H7BZZ2 | H7BZZ2_HUMAN | Dol-P-Man:Man(5)GlcNAc(2)-PP-Dol al... | ALG3 | 105 | Annotation score: | ||
F8WF93 | F8WF93_HUMAN | Dol-P-Man:Man(5)GlcNAc(2)-PP-Dol al... | ALG3 | 65 | Annotation score: |
Natural variant
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_037805 | 107 | I → V. Corresponds to variant dbSNP:rs2233463EnsemblClinVar. | 1 | |
Natural variantiVAR_010306 | 118 | G → D in CDG1D. 1 PublicationCorresponds to variant dbSNP:rs28940588EnsemblClinVar. | 1 | |
Natural variantiVAR_037806 | 171 | R → Q in CDG1D. 1 PublicationCorresponds to variant dbSNP:rs119103236EnsemblClinVar. | 1 |
Alternative sequence
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Alternative sequenceiVSP_042738 | 1 – 66 | MAAGL…HRVAY → MFPAQAKENAGFSGCGGD in isoform 2. 1 PublicationAdd BLAST | 66 |
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi Links Updated | Y09022 mRNA Translation: CAA70220.1 AK289361 mRNA Translation: BAF82050.1 AC061705 Genomic DNA No translation available. BC002839 mRNA Translation: AAH02839.1 BC004313 mRNA Translation: AAH04313.1 |
CCDSi | CCDS46967.1 [Q92685-2] CCDS46968.1 [Q92685-1] |
RefSeqi | NP_001006942.1, NM_001006941.2 [Q92685-2] NP_005778.1, NM_005787.5 [Q92685-1] |
Genome annotation databases
Ensembli | ENST00000397676; ENSP00000380793; ENSG00000214160 [Q92685-1] ENST00000445626; ENSP00000402744; ENSG00000214160 [Q92685-2] |
GeneIDi | 10195 |
KEGGi | hsa:10195 |
UCSCi | uc003fne.3, human [Q92685-1] |
Keywords - Coding sequence diversityi
Alternative splicingSimilar proteinsi
Cross-referencesi
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi Links Updated | Y09022 mRNA Translation: CAA70220.1 AK289361 mRNA Translation: BAF82050.1 AC061705 Genomic DNA No translation available. BC002839 mRNA Translation: AAH02839.1 BC004313 mRNA Translation: AAH04313.1 |
CCDSi | CCDS46967.1 [Q92685-2] CCDS46968.1 [Q92685-1] |
RefSeqi | NP_001006942.1, NM_001006941.2 [Q92685-2] NP_005778.1, NM_005787.5 [Q92685-1] |
3D structure databases
ModBasei | Search... |
SWISS-MODEL-Workspacei | Submit a new modelling project... |
Protein-protein interaction databases
BioGRIDi | 115490, 26 interactors |
IntActi | Q92685, 31 interactors |
MINTi | Q92685 |
STRINGi | 9606.ENSP00000380793 |
Protein family/group databases
CAZyi | GT58, Glycosyltransferase Family 58 |
PTM databases
iPTMneti | Q92685 |
PhosphoSitePlusi | Q92685 |
Genetic variation databases
BioMutai | ALG3 |
DMDMi | 3024226 |
Proteomic databases
EPDi | Q92685 |
jPOSTi | Q92685 |
MassIVEi | Q92685 |
MaxQBi | Q92685 |
PaxDbi | Q92685 |
PeptideAtlasi | Q92685 |
PRIDEi | Q92685 |
ProteomicsDBi | 75406 [Q92685-1] 75407 [Q92685-2] |
Protocols and materials databases
Antibodypediai | 52417, 13 antibodies |
DNASUi | 10195 |
Genome annotation databases
Ensembli | ENST00000397676; ENSP00000380793; ENSG00000214160 [Q92685-1] ENST00000445626; ENSP00000402744; ENSG00000214160 [Q92685-2] |
GeneIDi | 10195 |
KEGGi | hsa:10195 |
UCSCi | uc003fne.3, human [Q92685-1] |
Organism-specific databases
CTDi | 10195 |
DisGeNETi | 10195 |
GeneCardsi | ALG3 |
GeneReviewsi | ALG3 |
HGNCi | HGNC:23056, ALG3 |
HPAi | ENSG00000214160, Tissue enhanced (liver) |
MalaCardsi | ALG3 |
MIMi | 601110, phenotype 608750, gene |
neXtProti | NX_Q92685 |
OpenTargetsi | ENSG00000214160 |
Orphaneti | 79321, ALG3-CDG |
PharmGKBi | PA134897460 |
VEuPathDBi | HostDB:ENSG00000214160.9 |
GenAtlasi | Search... |
Phylogenomic databases
eggNOGi | KOG2762, Eukaryota |
GeneTreei | ENSGT00390000013904 |
InParanoidi | Q92685 |
OMAi | AAHVYIY |
OrthoDBi | 774318at2759 |
PhylomeDBi | Q92685 |
TreeFami | TF105870 |
Enzyme and pathway databases
UniPathwayi | UPA00378 |
BRENDAi | 2.4.1.258, 2681 |
PathwayCommonsi | Q92685 |
Reactomei | R-HSA-446193, Biosynthesis of the N-glycan precursor (dolichol lipid-linked oligosaccharide, LLO) and transfer to a nascent protein R-HSA-4720475, Defective ALG3 causes ALG3-CDG (CDG-1d) |
Miscellaneous databases
BioGRID-ORCSi | 10195, 25 hits in 883 CRISPR screens |
ChiTaRSi | ALG3, human |
GeneWikii | ALG3 |
GenomeRNAii | 10195 |
Pharosi | Q92685, Tdark |
PROi | PR:Q92685 |
RNActi | Q92685, protein |
SOURCEi | Search... |
Gene expression databases
Bgeei | ENSG00000214160, Expressed in right adrenal gland and 173 other tissues |
ExpressionAtlasi | Q92685, baseline and differential |
Genevisiblei | Q92685, HS |
Family and domain databases
InterProi | View protein in InterPro IPR007873, Glycosyltransferase_ALG3 |
PANTHERi | PTHR12646, PTHR12646, 1 hit |
Pfami | View protein in Pfam PF05208, ALG3, 1 hit |
ProtoNeti | Search... |
MobiDBi | Search... |
Entry informationi
Entry namei | ALG3_HUMAN | |
Accessioni | Q92685Primary (citable) accession number: Q92685 Secondary accession number(s): A8JZZ6, Q9BT71 | |
Entry historyi | Integrated into UniProtKB/Swiss-Prot: | July 15, 1998 |
Last sequence update: | February 1, 1997 | |
Last modified: | February 10, 2021 | |
This is version 174 of the entry and version 1 of the sequence. See complete history. | ||
Entry statusi | Reviewed (UniProtKB/Swiss-Prot) | |
Annotation program | Chordata Protein Annotation Program | |
Disclaimer | Any 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
Reference proteomeDocuments
- Human entries with genetic variants
List of human entries with genetic variants - Human variants curated from literature reports
Index of human variants curated from literature reports - MIM cross-references
Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot - PATHWAY comments
Index of metabolic and biosynthesis pathways - SIMILARITY comments
Index of protein domains and families - Human chromosome 3
Human chromosome 3: entries, gene names and cross-references to MIM