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Protein

Dol-P-Man:Man(5)GlcNAc(2)-PP-Dol alpha-1,3-mannosyltransferase

Gene

ALG3

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

Functioni

Adds the first Dol-P-Man derived mannose in an alpha-1,3 linkage to Man5GlcNAc2-PP-Dol.1 Publication

Caution

Catalytic activityi

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.

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

GO - Biological processi

  • dolichol-linked oligosaccharide biosynthetic process Source: Reactome
  • protein glycosylation Source: UniProtKB

Keywordsi

Molecular functionGlycosyltransferase, Transferase

Enzyme and pathway databases

BRENDAi2.4.1.258 2681
ReactomeiR-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)
UniPathwayiUPA00378

Protein family/group databases

CAZyiGT58 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
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 3

Organism-specific databases

EuPathDBiHostDB:ENSG00000214160.9
HGNCiHGNC:23056 ALG3
MIMi608750 gene
neXtProtiNX_Q92685

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
Transmembranei41 – 61HelicalSequence analysisAdd BLAST21
Transmembranei95 – 115HelicalSequence analysisAdd BLAST21
Transmembranei123 – 143HelicalSequence analysisAdd BLAST21
Transmembranei149 – 169HelicalSequence analysisAdd BLAST21
Transmembranei172 – 192HelicalSequence analysisAdd BLAST21
Transmembranei203 – 223HelicalSequence analysisAdd BLAST21
Transmembranei231 – 251HelicalSequence analysisAdd BLAST21
Transmembranei289 – 309HelicalSequence analysisAdd BLAST21
Transmembranei332 – 352HelicalSequence analysisAdd BLAST21
Transmembranei356 – 376HelicalSequence analysisAdd BLAST21
Transmembranei407 – 427HelicalSequence analysisAdd BLAST21

Keywords - Cellular componenti

Endoplasmic reticulum, Membrane

Pathology & Biotechi

Involvement in diseasei

Congenital disorder of glycosylation 1D (CDG1D)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:601110
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_010306118G → D in CDG1D. 1 PublicationCorresponds to variant dbSNP:rs28940588Ensembl.1
Natural variantiVAR_037806171R → Q in CDG1D. 1 PublicationCorresponds to variant dbSNP:rs119103236Ensembl.1

Keywords - Diseasei

Congenital disorder of glycosylation, Disease mutation

Organism-specific databases

DisGeNETi10195
GeneReviewsiALG3
MalaCardsiALG3
MIMi601110 phenotype
OpenTargetsiENSG00000214160
Orphaneti79321 ALG3-CDG
PharmGKBiPA134897460

Polymorphism and mutation databases

BioMutaiALG3
DMDMi3024226

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00000805661 – 438Dol-P-Man:Man(5)GlcNAc(2)-PP-Dol alpha-1,3-mannosyltransferaseAdd BLAST438

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei13PhosphoserineCombined sources1

Keywords - PTMi

Phosphoprotein

Proteomic databases

EPDiQ92685
MaxQBiQ92685
PaxDbiQ92685
PeptideAtlasiQ92685
PRIDEiQ92685

PTM databases

iPTMnetiQ92685
PhosphoSitePlusiQ92685

Expressioni

Gene expression databases

BgeeiENSG00000214160
CleanExiHS_ALG3
ExpressionAtlasiQ92685 baseline and differential
GenevisibleiQ92685 HS

Organism-specific databases

HPAiHPA045103

Interactioni

Binary interactionsi

WithEntry#Exp.IntActNotes
CREB3O43889-23EBI-2848814,EBI-625022

Protein-protein interaction databases

BioGridi11549016 interactors.
IntActiQ92685 6 interactors.
MINTiQ92685
STRINGi9606.ENSP00000380793

Structurei

3D structure databases

ProteinModelPortaliQ92685
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Sequence similaritiesi

Belongs to the glycosyltransferase 58 family.Curated

Keywords - Domaini

Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiKOG2762 Eukaryota
ENOG410XSN8 LUCA
GeneTreeiENSGT00390000013904
HOGENOMiHOG000237555
HOVERGENiHBG002070
InParanoidiQ92685
KOiK03845
OMAiTKKVPPY
OrthoDBiEOG091G0FWS
PhylomeDBiQ92685
TreeFamiTF105870

Family and domain databases

InterProiView protein in InterPro
IPR007873 Glycosyltransferase_ALG3
PANTHERiPTHR12646 PTHR12646, 1 hit
PfamiView protein in Pfam
PF05208 ALG3, 1 hit

Sequences (2)i

Sequence statusi: Complete.

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

Isoform 1 (identifier: Q92685-1) [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
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
Length:438
Mass (Da):50,126
Last modified:February 1, 1997 - v1
Checksum:i687FC8E4A588FD9C
GO
Isoform 2 (identifier: Q92685-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-66: MAAGLRKRGR...TFWVIHRVAY → MFPAQAKENAGFSGCGGD

Note: No experimental confirmation available.
Show »
Length:390
Mass (Da):44,370
Checksum:iCCE950E0FFA23449
GO

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_037805107I → V. Corresponds to variant dbSNP:rs2233463Ensembl.1
Natural variantiVAR_010306118G → D in CDG1D. 1 PublicationCorresponds to variant dbSNP:rs28940588Ensembl.1
Natural variantiVAR_037806171R → Q in CDG1D. 1 PublicationCorresponds to variant dbSNP:rs119103236Ensembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_0427381 – 66MAAGL…HRVAY → MFPAQAKENAGFSGCGGD in isoform 2. 1 PublicationAdd BLAST66

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
CCDSiCCDS46967.1 [Q92685-2]
CCDS46968.1 [Q92685-1]
RefSeqiNP_001006942.1, NM_001006941.2 [Q92685-2]
NP_005778.1, NM_005787.5 [Q92685-1]
UniGeneiHs.478481

Genome annotation databases

EnsembliENST00000397676; ENSP00000380793; ENSG00000214160 [Q92685-1]
ENST00000445626; ENSP00000402744; ENSG00000214160 [Q92685-2]
GeneIDi10195
KEGGihsa:10195
UCSCiuc003fne.3 human [Q92685-1]

Keywords - Coding sequence diversityi

Alternative splicing

Similar proteinsi

Entry informationi

Entry nameiALG3_HUMAN
AccessioniPrimary (citable) accession number: Q92685
Secondary accession number(s): A8JZZ6, Q9BT71
Entry historyiIntegrated into UniProtKB/Swiss-Prot: July 15, 1998
Last sequence update: February 1, 1997
Last modified: April 25, 2018
This is version 155 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