UniProtKB - Q9BVK2 (ALG8_HUMAN)
Protein
Probable dolichyl pyrophosphate Glc1Man9GlcNAc2 alpha-1,3-glucosyltransferase
Gene
ALG8
Organism
Homo sapiens (Human)
Status
Functioni
Adds the second glucose residue to the lipid-linked oligosaccharide precursor for N-linked glycosylation. Transfers glucose from dolichyl phosphate glucose (Dol-P-Glc) onto the lipid-linked oligosaccharide Glc1Man9GlcNAc2-PP-Dol before it is transferred to the nascent peptide (By similarity). Required for PKD1/Polycystin-1 maturation and localization to the plasma membrane of the primary cilia (By similarity).By similarity
Catalytic activityi
- α-D-Glc-(1→3)-α-D-Man-(1→2)-α-D-Man-(1→2)-α-D-Man-(1→3)-[α-D-Man-(1→2)-α-D-Man-(1→3)-[α-D-Man-(1→2)-α-D-Man-(1→6)]-α-D-Man-(1→6)]-β-D-Man-(1→4)-β-D-GlcNAc-(1→4)-α-D-GlcNAc-diphosphodolichol + dolichyl β-D-glucosyl phosphate = α-D-Glc-(1→3)-α-D-Glc-(1→3)-α-D-Man-(1→2)-α-D-Man-(1→2)-α-D-Man-(1→3)-[α-D-Man-(1→2)-α-D-Man-(1→3)-[α-D-Man-(1→2)-α-D-Man-(1→6)]-α-D-Man-(1→6)]-β-D-Man-(1→4)-β-D-GlcNAc-(1→4)-α-D-GlcNAc-diphosphodolichol + dolichyl phosphate + H+By similarityEC:2.4.1.265By similarity
: 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
- dolichyl-phosphate-glucose-glycolipid alpha-glucosyltransferase activity Source: Reactome
- dolichyl pyrophosphate Glc1Man9GlcNAc2 alpha-1,3-glucosyltransferase activity Source: GO_Central
GO - Biological processi
- dolichol-linked oligosaccharide biosynthetic process Source: Reactome
- oligosaccharide-lipid intermediate biosynthetic process Source: GO_Central
- protein N-linked glycosylation Source: UniProtKB
- protein N-linked glycosylation via asparagine Source: UniProtKB
Keywordsi
Molecular function | Glycosyltransferase, Transferase |
Enzyme and pathway databases
BRENDAi | 2.4.1.265, 2681 |
PathwayCommonsi | Q9BVK2 |
Reactomei | R-HSA-446193, Biosynthesis of the N-glycan precursor (dolichol lipid-linked oligosaccharide, LLO) and transfer to a nascent protein R-HSA-4724325, Defective ALG8 causes ALG8-CDG (CDG-1h) |
UniPathwayi | UPA00378 |
Protein family/group databases
CAZyi | GT57, Glycosyltransferase Family 57 |
Names & Taxonomyi
Protein namesi | Recommended name: Probable dolichyl pyrophosphate Glc1Man9GlcNAc2 alpha-1,3-glucosyltransferaseBy similarity (EC:2.4.1.265By similarity)Alternative name(s): Asparagine-linked glycosylation protein 8 homolog Dol-P-Glc:Glc(1)Man(9)GlcNAc(2)-PP-dolichyl alpha-1,3-glucosyltransferaseBy similarity Dolichyl-P-Glc:Glc1Man9GlcNAc2-PP-dolichyl glucosyltransferaseBy similarity |
Gene namesi | ORF Names:HUSSY-02 |
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
EuPathDBi | HostDB:ENSG00000159063.12 |
HGNCi | HGNC:23161, ALG8 |
MIMi | 608103, gene |
neXtProti | NX_Q9BVK2 |
Subcellular locationi
Endoplasmic reticulum
- Endoplasmic reticulum membrane By similarity; Multi-pass membrane protein By similarity
Endoplasmic reticulum
- endoplasmic reticulum membrane Source: GO_Central
Other locations
- integral component of membrane Source: UniProtKB-KW
Topology
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Transmembranei | 4 – 24 | HelicalSequence analysisAdd BLAST | 21 | |
Transmembranei | 103 – 122 | HelicalSequence analysisAdd BLAST | 20 | |
Transmembranei | 143 – 163 | HelicalSequence analysisAdd BLAST | 21 | |
Transmembranei | 188 – 208 | HelicalSequence analysisAdd BLAST | 21 | |
Transmembranei | 238 – 258 | HelicalSequence analysisAdd BLAST | 21 | |
Transmembranei | 334 – 354 | HelicalSequence analysisAdd BLAST | 21 | |
Transmembranei | 368 – 388 | HelicalSequence analysisAdd BLAST | 21 | |
Transmembranei | 389 – 409 | HelicalSequence analysisAdd BLAST | 21 | |
Transmembranei | 427 – 449 | HelicalSequence analysisAdd BLAST | 23 | |
Transmembranei | 461 – 481 | HelicalSequence analysisAdd BLAST | 21 | |
Transmembranei | 488 – 508 | HelicalSequence analysisAdd BLAST | 21 |
Keywords - Cellular componenti
Endoplasmic reticulum, MembranePathology & Biotechi
Involvement in diseasei
Congenital disorder of glycosylation 1H (CDG1H)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.
Related information in OMIMFeature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_023480 | 47 | T → P in CDG1H. 1 PublicationCorresponds to variant dbSNP:rs121908293EnsemblClinVar. | 1 | |
Natural variantiVAR_023482 | 275 | G → D in CDG1H. 1 PublicationCorresponds to variant dbSNP:rs121908294EnsemblClinVar. | 1 |
Polycystic liver disease 3 with or without kidney cysts (PCLD3)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA form of polycystic liver disease, an autosomal dominant hepatobiliary disease characterized by overgrowth of biliary epithelium and supportive connective tissue, resulting in multiple liver cysts. PCLD3 patients may also develop kidney cysts that usually do not result in clinically significant renal disease.
Related information in OMIMFeature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_080918 | 179 – 526 | Missing in PCLD3. 1 PublicationAdd BLAST | 348 | |
Natural variantiVAR_080919 | 364 – 526 | Missing in PCLD3. 1 PublicationAdd BLAST | 163 |
Keywords - Diseasei
Congenital disorder of glycosylation, Disease mutationOrganism-specific databases
DisGeNETi | 79053 |
GeneReviewsi | ALG8 |
MalaCardsi | ALG8 |
MIMi | 608104, phenotype 617874, phenotype |
OpenTargetsi | ENSG00000159063 |
Orphaneti | 79325, ALG8-CDG |
PharmGKBi | PA134942124 |
Miscellaneous databases
Pharosi | Q9BVK2, Tbio |
Polymorphism and mutation databases
BioMutai | ALG8 |
DMDMi | 143811361 |
PTM / Processingi
Molecule processing
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
ChainiPRO_0000174162 | 1 – 526 | Probable dolichyl pyrophosphate Glc1Man9GlcNAc2 alpha-1,3-glucosyltransferaseAdd BLAST | 526 |
Proteomic databases
EPDi | Q9BVK2 |
jPOSTi | Q9BVK2 |
MassIVEi | Q9BVK2 |
MaxQBi | Q9BVK2 |
PaxDbi | Q9BVK2 |
PeptideAtlasi | Q9BVK2 |
PRIDEi | Q9BVK2 |
ProteomicsDBi | 79213 [Q9BVK2-1] 937 |
PTM databases
iPTMneti | Q9BVK2 |
PhosphoSitePlusi | Q9BVK2 |
SwissPalmi | Q9BVK2 |
Expressioni
Gene expression databases
Bgeei | ENSG00000159063, Expressed in right testis and 226 other tissues |
ExpressionAtlasi | Q9BVK2, baseline and differential |
Genevisiblei | Q9BVK2, HS |
Organism-specific databases
HPAi | ENSG00000159063, Low tissue specificity |
Interactioni
Binary interactionsi
Hide detailsQ9BVK2
Protein-protein interaction databases
BioGRIDi | 122511, 43 interactors |
IntActi | Q9BVK2, 40 interactors |
STRINGi | 9606.ENSP00000299626 |
Miscellaneous databases
RNActi | Q9BVK2, protein |
Family & Domainsi
Sequence similaritiesi
Belongs to the ALG6/ALG8 glucosyltransferase family.Curated
Keywords - Domaini
Transmembrane, Transmembrane helixPhylogenomic databases
eggNOGi | KOG2576, Eukaryota |
GeneTreei | ENSGT00940000153733 |
HOGENOMi | CLU_022045_2_0_1 |
InParanoidi | Q9BVK2 |
OMAi | DVHRNWL |
PhylomeDBi | Q9BVK2 |
TreeFami | TF315002 |
Family and domain databases
InterProi | View protein in InterPro IPR039487, ALG8 IPR004856, Glyco_trans_ALG6/ALG8 |
PANTHERi | PTHR12413, PTHR12413, 1 hit PTHR12413:SF2, PTHR12413:SF2, 1 hit |
Pfami | View protein in Pfam PF03155, Alg6_Alg8, 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 14 potential isoforms that are computationally mapped.Show allAlign All
Isoform 1 (identifier: Q9BVK2-1) [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
MAALTIATGT GNWFSALALG VTLLKCLLIP TYHSTDFEVH RNWLAITHSL
60 70 80 90 100
PISQWYYEAT SEWTLDYPPF FAWFEYILSH VAKYFDQEML NVHNLNYSSS
110 120 130 140 150
RTLLFQRFSV IFMDVLFVYA VRECCKCIDG KKVGKELTEK PKFILSVLLL
160 170 180 190 200
WNFGLLIVDH IHFQYNGFLF GLMLLSIARL FQKRHMEGAF LFAVLLHFKH
210 220 230 240 250
IYLYVAPAYG VYLLRSYCFT ANKPDGSIRW KSFSFVRVIS LGLVVFLVSA
260 270 280 290 300
LSLGPFLALN QLPQVFSRLF PFKRGLCHAY WAPNFWALYN ALDKVLSVIG
310 320 330 340 350
LKLKFLDPNN IPKASMTSGL VQQFQHTVLP SVTPLATLIC TLIAILPSIF
360 370 380 390 400
CLWFKPQGPR GFLRCLTLCA LSSFMFGWHV HEKAILLAIL PMSLLSVGKA
410 420 430 440 450
GDASIFLILT TTGHYSLFPL LFTAPELPIK ILLMLLFTIY SISSLKTLFR
460 470 480 490 500
KEKPLFNWME TFYLLGLGPL EVCCEFVFPF TSWKVKYPFI PLLLTSVYCA
510 520
VGITYAWFKL YVSVLIDSAI GKTKKQ
Computationally mapped potential isoform sequencesi
There are 14 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basketH0YCV0 | H0YCV0_HUMAN | Alpha-1,3-glucosyltransferase | ALG8 | 228 | Annotation score: | ||
H0YD42 | H0YD42_HUMAN | Alpha-1,3-glucosyltransferase | ALG8 | 157 | Annotation score: | ||
H0YDD3 | H0YDD3_HUMAN | Alpha-1,3-glucosyltransferase | ALG8 | 226 | Annotation score: | ||
H0YDQ1 | H0YDQ1_HUMAN | Alpha-1,3-glucosyltransferase | ALG8 | 87 | Annotation score: | ||
H0YDV4 | H0YDV4_HUMAN | Alpha-1,3-glucosyltransferase | ALG8 | 197 | Annotation score: | ||
E9PK79 | E9PK79_HUMAN | Alpha-1,3-glucosyltransferase | ALG8 | 242 | Annotation score: | ||
E9PKA5 | E9PKA5_HUMAN | Alpha-1,3-glucosyltransferase | ALG8 | 172 | Annotation score: | ||
E9PNE2 | E9PNE2_HUMAN | Alpha-1,3-glucosyltransferase | ALG8 | 236 | Annotation score: | ||
E9PP96 | E9PP96_HUMAN | Alpha-1,3-glucosyltransferase | ALG8 | 282 | Annotation score: | ||
H0YEE0 | H0YEE0_HUMAN | Alpha-1,3-glucosyltransferase | ALG8 | 281 | Annotation score: | ||
There are more potential isoformsShow all |
Sequence cautioni
The sequence CAA12176 differs from that shown. Reason: Erroneous initiation. Extended N-terminus.Curated
Experimental Info
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Sequence conflicti | 478 | F → Y in CAA12176 (PubMed:11124703).Curated | 1 | |
Sequence conflicti | 503 | I → V in AAH01133 (Ref. 3) Curated | 1 |
Natural variant
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_023480 | 47 | T → P in CDG1H. 1 PublicationCorresponds to variant dbSNP:rs121908293EnsemblClinVar. | 1 | |
Natural variantiVAR_080918 | 179 – 526 | Missing in PCLD3. 1 PublicationAdd BLAST | 348 | |
Natural variantiVAR_023481 | 222 | N → S2 PublicationsCorresponds to variant dbSNP:rs665278EnsemblClinVar. | 1 | |
Natural variantiVAR_023482 | 275 | G → D in CDG1H. 1 PublicationCorresponds to variant dbSNP:rs121908294EnsemblClinVar. | 1 | |
Natural variantiVAR_080919 | 364 – 526 | Missing in PCLD3. 1 PublicationAdd BLAST | 163 | |
Natural variantiVAR_031596 | 439 | I → T. Corresponds to variant dbSNP:rs17825668EnsemblClinVar. | 1 |
Alternative sequence
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Alternative sequenceiVSP_046291 | 451 – 526 | KEKPL…KTKKQ → RSFTLVAQAGVQWHDLS in isoform 2. CuratedAdd BLAST | 76 |
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi Links Updated | AJ224875 mRNA Translation: CAA12176.1 Different initiation. AP002520 Genomic DNA No translation available. CH471076 Genomic DNA Translation: EAW75050.1 BC001133 mRNA Translation: AAH01133.1 |
CCDSi | CCDS41692.1 [Q9BVK2-2] CCDS8258.1 [Q9BVK2-1] |
RefSeqi | NP_001007028.1, NM_001007027.2 [Q9BVK2-2] NP_076984.2, NM_024079.4 [Q9BVK2-1] |
Genome annotation databases
Ensembli | ENST00000299626; ENSP00000299626; ENSG00000159063 [Q9BVK2-1] ENST00000376156; ENSP00000365326; ENSG00000159063 [Q9BVK2-2] ENST00000615266; ENSP00000480742; ENSG00000159063 [Q9BVK2-2] |
GeneIDi | 79053 |
KEGGi | hsa:79053 |
UCSCi | uc001oyz.2, human [Q9BVK2-1] |
Keywords - Coding sequence diversityi
Alternative splicing, PolymorphismSimilar proteinsi
Cross-referencesi
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi Links Updated | AJ224875 mRNA Translation: CAA12176.1 Different initiation. AP002520 Genomic DNA No translation available. CH471076 Genomic DNA Translation: EAW75050.1 BC001133 mRNA Translation: AAH01133.1 |
CCDSi | CCDS41692.1 [Q9BVK2-2] CCDS8258.1 [Q9BVK2-1] |
RefSeqi | NP_001007028.1, NM_001007027.2 [Q9BVK2-2] NP_076984.2, NM_024079.4 [Q9BVK2-1] |
3D structure databases
SMRi | Q9BVK2 |
ModBasei | Search... |
Protein-protein interaction databases
BioGRIDi | 122511, 43 interactors |
IntActi | Q9BVK2, 40 interactors |
STRINGi | 9606.ENSP00000299626 |
Protein family/group databases
CAZyi | GT57, Glycosyltransferase Family 57 |
PTM databases
iPTMneti | Q9BVK2 |
PhosphoSitePlusi | Q9BVK2 |
SwissPalmi | Q9BVK2 |
Polymorphism and mutation databases
BioMutai | ALG8 |
DMDMi | 143811361 |
Proteomic databases
EPDi | Q9BVK2 |
jPOSTi | Q9BVK2 |
MassIVEi | Q9BVK2 |
MaxQBi | Q9BVK2 |
PaxDbi | Q9BVK2 |
PeptideAtlasi | Q9BVK2 |
PRIDEi | Q9BVK2 |
ProteomicsDBi | 79213 [Q9BVK2-1] 937 |
Protocols and materials databases
Antibodypediai | 31296, 110 antibodies |
DNASUi | 79053 |
Genome annotation databases
Ensembli | ENST00000299626; ENSP00000299626; ENSG00000159063 [Q9BVK2-1] ENST00000376156; ENSP00000365326; ENSG00000159063 [Q9BVK2-2] ENST00000615266; ENSP00000480742; ENSG00000159063 [Q9BVK2-2] |
GeneIDi | 79053 |
KEGGi | hsa:79053 |
UCSCi | uc001oyz.2, human [Q9BVK2-1] |
Organism-specific databases
CTDi | 79053 |
DisGeNETi | 79053 |
EuPathDBi | HostDB:ENSG00000159063.12 |
GeneCardsi | ALG8 |
GeneReviewsi | ALG8 |
HGNCi | HGNC:23161, ALG8 |
HPAi | ENSG00000159063, Low tissue specificity |
MalaCardsi | ALG8 |
MIMi | 608103, gene 608104, phenotype 617874, phenotype |
neXtProti | NX_Q9BVK2 |
OpenTargetsi | ENSG00000159063 |
Orphaneti | 79325, ALG8-CDG |
PharmGKBi | PA134942124 |
GenAtlasi | Search... |
Phylogenomic databases
eggNOGi | KOG2576, Eukaryota |
GeneTreei | ENSGT00940000153733 |
HOGENOMi | CLU_022045_2_0_1 |
InParanoidi | Q9BVK2 |
OMAi | DVHRNWL |
PhylomeDBi | Q9BVK2 |
TreeFami | TF315002 |
Enzyme and pathway databases
UniPathwayi | UPA00378 |
BRENDAi | 2.4.1.265, 2681 |
PathwayCommonsi | Q9BVK2 |
Reactomei | R-HSA-446193, Biosynthesis of the N-glycan precursor (dolichol lipid-linked oligosaccharide, LLO) and transfer to a nascent protein R-HSA-4724325, Defective ALG8 causes ALG8-CDG (CDG-1h) |
Miscellaneous databases
BioGRID-ORCSi | 79053, 120 hits in 851 CRISPR screens |
ChiTaRSi | ALG8, human |
GeneWikii | ALG8 |
GenomeRNAii | 79053 |
Pharosi | Q9BVK2, Tbio |
PROi | PR:Q9BVK2 |
RNActi | Q9BVK2, protein |
SOURCEi | Search... |
Gene expression databases
Bgeei | ENSG00000159063, Expressed in right testis and 226 other tissues |
ExpressionAtlasi | Q9BVK2, baseline and differential |
Genevisiblei | Q9BVK2, HS |
Family and domain databases
InterProi | View protein in InterPro IPR039487, ALG8 IPR004856, Glyco_trans_ALG6/ALG8 |
PANTHERi | PTHR12413, PTHR12413, 1 hit PTHR12413:SF2, PTHR12413:SF2, 1 hit |
Pfami | View protein in Pfam PF03155, Alg6_Alg8, 1 hit |
ProtoNeti | Search... |
MobiDBi | Search... |
Entry informationi
Entry namei | ALG8_HUMAN | |
Accessioni | Q9BVK2Primary (citable) accession number: Q9BVK2 Secondary accession number(s): A6NDW6, O60860 | |
Entry historyi | Integrated into UniProtKB/Swiss-Prot: | May 27, 2002 |
Last sequence update: | April 3, 2007 | |
Last modified: | December 2, 2020 | |
This is version 174 of the entry and version 2 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 polymorphisms and disease mutations
Index of human polymorphisms and disease mutations - 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 11
Human chromosome 11: entries, gene names and cross-references to MIM - Human entries with polymorphisms or disease mutations
List of human entries with polymorphisms or disease mutations