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UniProtKB - Q9BVK2 (ALG8_HUMAN)

Entry version 173 (07 Oct 2020)
Sequence version 2 (03 Apr 2007)
Previous versions | rss
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Protein

Probable dolichyl pyrophosphate Glc1Man9GlcNAc2 alpha-1,3-glucosyltransferase

Gene

ALG8

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score:

Annotation score:5 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>-Experimental evidence at protein leveli <p>This indicates the type of evidence that supports the existence of the protein. Note that the 'protein existence' evidence does not give information on the accuracy or correctness of the sequence(s) displayed.<p><a href='/help/protein_existence' target='_top'>More...</a></p>

<p>This section provides any useful information about the protein, mostly biological knowledge.<p><a href='/help/function_section' target='_top'>More...</a></p>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

<p>This subsection of the <a href="http://www.uniprot.org/help/function%5Fsection">Function</a> section describes the catalytic activity of an enzyme, i.e. a chemical reaction that the enzyme catalyzes.<p><a href='/help/catalytic_activity' target='_top'>More...</a></p>Catalytic activityi

<p>This subsection of the <a href="http://www.uniprot.org/help/function%5Fsection">'Function'</a> section describes the metabolic pathway(s) associated with a protein.<p><a href='/help/pathway' target='_top'>More...</a></p>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.

<p>The <a href="http://www.geneontology.org/">Gene Ontology (GO)</a> project provides a set of hierarchical controlled vocabulary split into 3 categories:<p><a href='/help/gene_ontology' target='_top'>More...</a></p>GO - Molecular functioni

Complete GO annotation on QuickGO ...

GO - Biological processi

Complete GO annotation on QuickGO ...

<p>UniProtKB Keywords constitute a <a href="http://www.uniprot.org/keywords">controlled vocabulary</a> with a hierarchical structure. Keywords summarise the content of a UniProtKB entry and facilitate the search for proteins of interest.<p><a href='/help/keywords' target='_top'>More...</a></p>Keywordsi

Molecular functionGlycosyltransferase, Transferase

Enzyme and pathway databases

BRENDA Comprehensive Enzyme Information System

More...BRENDAi		2.4.1.265, 2681

Pathway Commons web resource for biological pathway data

More...PathwayCommonsi		Q9BVK2

Reactome - a knowledgebase of biological pathways and processes

More...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)

UniPathway: a resource for the exploration and annotation of metabolic pathways

More...UniPathwayi		UPA00378

Protein family/group databases

Carbohydrate-Active enZymes

More...CAZyi		GT57, Glycosyltransferase Family 57

<p>This section provides information about the protein and gene name(s) and synonym(s) and about the organism that is the source of the protein sequence.<p><a href='/help/names_and_taxonomy_section' target='_top'>More...</a></p>Names & Taxonomyi

<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section provides an exhaustive list of all names of the protein, from commonly used to obsolete, to allow unambiguous identification of a protein.<p><a href='/help/protein_names' target='_top'>More...</a></p>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
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section indicates the name(s) of the gene(s) that code for the protein sequence(s) described in the entry. Four distinct tokens exist: 'Name', 'Synonyms', 'Ordered locus names' and 'ORF names'.<p><a href='/help/gene_name' target='_top'>More...</a></p>Gene namesi
Name:ALG81 PublicationImported
ORF Names:HUSSY-02
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section provides information on the name(s) of the organism that is the source of the protein sequence.<p><a href='/help/organism-name' target='_top'>More...</a></p>OrganismiHomo sapiens (Human)
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section shows the unique identifier assigned by the NCBI to the source organism of the protein. This is known as the 'taxonomic identifier' or 'taxid'.<p><a href='/help/taxonomic_identifier' target='_top'>More...</a></p>Taxonomic identifieri9606 [NCBI]
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section contains the taxonomic hierarchical classification lineage of the source organism. It lists the nodes as they appear top-down in the taxonomic tree, with the more general grouping listed first.<p><a href='/help/taxonomic_lineage' target='_top'>More...</a></p>Taxonomic lineageiEukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section is present for entries that are part of a <a href="http://www.uniprot.org/proteomes">proteome</a>, i.e. of a set of proteins thought to be expressed by organisms whose genomes have been completely sequenced.<p><a href='/help/proteomes_manual' target='_top'>More...</a></p>Proteomesi
  • UP000005640 <p>A UniProt <a href="http://www.uniprot.org/manual/proteomes%5Fmanual">proteome</a> can consist of several components.<br></br>The component name refers to the genomic component encoding a set of proteins.<p><a href='/help/proteome_component' target='_top'>More...</a></p> Componenti: Chromosome 11

Organism-specific databases

Eukaryotic Pathogen Database Resources

More...EuPathDBi		HostDB:ENSG00000159063.12

Human Gene Nomenclature Database

More...HGNCi		HGNC:23161, ALG8

Online Mendelian Inheritance in Man (OMIM)

More...MIMi		608103, gene

neXtProt; the human protein knowledge platform

More...neXtProti		NX_Q9BVK2

<p>This section provides information on the location and the topology of the mature protein in the cell.<p><a href='/help/subcellular_location_section' target='_top'>More...</a></p>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 & Seán O’Donoghue; Source: COMPARTMENTS

Topology

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/subcellular%5Flocation%5Fsection">'Subcellular location'</a> section describes the extent of a membrane-spanning region of the protein. It denotes the presence of both alpha-helical transmembrane regions and the membrane spanning regions of beta-barrel transmembrane proteins.<p><a href='/help/transmem' target='_top'>More...</a></p>Transmembranei4 – 24HelicalSequence analysisAdd BLAST21
Transmembranei103 – 122HelicalSequence analysisAdd BLAST20
Transmembranei143 – 163HelicalSequence analysisAdd BLAST21
Transmembranei188 – 208HelicalSequence analysisAdd BLAST21
Transmembranei238 – 258HelicalSequence analysisAdd BLAST21
Transmembranei334 – 354HelicalSequence analysisAdd BLAST21
Transmembranei368 – 388HelicalSequence analysisAdd BLAST21
Transmembranei389 – 409HelicalSequence analysisAdd BLAST21
Transmembranei427 – 449HelicalSequence analysisAdd BLAST23
Transmembranei461 – 481HelicalSequence analysisAdd BLAST21
Transmembranei488 – 508HelicalSequence analysisAdd BLAST21

Keywords - Cellular componenti

Endoplasmic reticulum, Membrane

<p>This section provides information on the disease(s) and phenotype(s) associated with a protein.<p><a href='/help/pathology_and_biotech_section' target='_top'>More...</a></p>Pathology & Biotechi

<p>This subsection of the 'Pathology and Biotech' section provides information on the disease(s) associated with genetic variations in a given protein. The information is extracted from the scientific literature and diseases that are also described in the <a href="http://www.ncbi.nlm.nih.gov/sites/entrez?db=omim">OMIM</a> database are represented with a <a href="http://www.uniprot.org/diseases">controlled vocabulary</a> in the following way:<p><a href='/help/involvement_in_disease' target='_top'>More...</a></p>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 OMIM
Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Sequence' section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_02348047T → P in CDG1H. 1 PublicationCorresponds to variant dbSNP:rs121908293EnsemblClinVar.1
Natural variantiVAR_023482275G → 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 OMIM
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_080918179 – 526Missing in PCLD3. 1 PublicationAdd BLAST348
Natural variantiVAR_080919364 – 526Missing in PCLD3. 1 PublicationAdd BLAST163

Keywords - Diseasei

Congenital disorder of glycosylation, Disease mutation

Organism-specific databases

DisGeNET

More...DisGeNETi		79053

GeneReviews a resource of expert-authored, peer-reviewed disease descriptions.

More...GeneReviewsi		ALG8

MalaCards human disease database

More...MalaCardsi		ALG8
MIMi608104, phenotype
617874, phenotype

Open Targets

More...OpenTargetsi		ENSG00000159063

Orphanet; a database dedicated to information on rare diseases and orphan drugs

More...Orphaneti		79325, ALG8-CDG

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...PharmGKBi		PA134942124

Miscellaneous databases

Pharos NIH Druggable Genome Knowledgebase

More...Pharosi		Q9BVK2, Tbio

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...BioMutai		ALG8

Domain mapping of disease mutations (DMDM)

More...DMDMi		143811361

<p>This section describes post-translational modifications (PTMs) and/or processing events.<p><a href='/help/ptm_processing_section' target='_top'>More...</a></p>PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'PTM / Processing' section describes the extent of a polypeptide chain in the mature protein following processing or proteolytic cleavage.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_00001741621 – 526Probable dolichyl pyrophosphate Glc1Man9GlcNAc2 alpha-1,3-glucosyltransferaseAdd BLAST526

Proteomic databases

Encyclopedia of Proteome Dynamics

More...EPDi		Q9BVK2

jPOST - Japan Proteome Standard Repository/Database

More...jPOSTi		Q9BVK2

MassIVE - Mass Spectrometry Interactive Virtual Environment

More...MassIVEi		Q9BVK2

MaxQB - The MaxQuant DataBase

More...MaxQBi		Q9BVK2

PaxDb, a database of protein abundance averages across all three domains of life

More...PaxDbi		Q9BVK2

PeptideAtlas

More...PeptideAtlasi		Q9BVK2

PRoteomics IDEntifications database

More...PRIDEi		Q9BVK2

ProteomicsDB: a multi-organism proteome resource

More...ProteomicsDBi		79213 [Q9BVK2-1]
937

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

More...iPTMneti		Q9BVK2

Comprehensive resource for the study of protein post-translational modifications (PTMs) in human, mouse and rat.

More...PhosphoSitePlusi		Q9BVK2

SwissPalm database of S-palmitoylation events

More...SwissPalmi		Q9BVK2

<p>This section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms.<p><a href='/help/expression_section' target='_top'>More...</a></p>Expressioni

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...Bgeei		ENSG00000159063, Expressed in right testis and 226 other tissues

ExpressionAtlas, Differential and Baseline Expression

More...ExpressionAtlasi		Q9BVK2, baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

More...Genevisiblei		Q9BVK2, HS

Organism-specific databases

Human Protein Atlas

More...HPAi		ENSG00000159063, Low tissue specificity

<p>This section provides information on the quaternary structure of a protein and on interaction(s) with other proteins or protein complexes.<p><a href='/help/interaction_section' target='_top'>More...</a></p>Interactioni

<p>This subsection of the '<a href="http://www.uniprot.org/help/interaction%5Fsection">Interaction</a>' section provides information about binary protein-protein interactions. The data presented in this section are a quality-filtered subset of binary interactions automatically derived from the <a href="https://www.ebi.ac.uk/intact/">IntAct database</a>. It is updated at every <a href="http://www.uniprot.org/help/synchronization">UniProt release</a>.<p><a href='/help/binary_interactions' target='_top'>More...</a></p>Binary interactionsi

Hide details

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGRID)

More...BioGRIDi		122511, 41 interactors

Protein interaction database and analysis system

More...IntActi		Q9BVK2, 40 interactors

STRING: functional protein association networks

More...STRINGi		9606.ENSP00000299626

Miscellaneous databases

RNAct, Protein-RNA interaction predictions for model organisms.

More...RNActi		Q9BVK2, protein

<p>This section provides information on the tertiary and secondary structure of a protein.<p><a href='/help/structure_section' target='_top'>More...</a></p>Structurei

3D structure databases

SWISS-MODEL Repository - a database of annotated 3D protein structure models

More...SMRi		Q9BVK2

Database of comparative protein structure models

More...ModBasei		Search...

<p>This section provides information on sequence similarities with other proteins and the domain(s) present in a protein.<p><a href='/help/family_and_domains_section' target='_top'>More...</a></p>Family & Domainsi

<p>This subsection of the 'Family and domains' section provides information about the sequence similarity with other proteins.<p><a href='/help/sequence_similarities' target='_top'>More...</a></p>Sequence similaritiesi

Belongs to the ALG6/ALG8 glucosyltransferase family.Curated

Keywords - Domaini

Transmembrane, Transmembrane helix

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...eggNOGi		KOG2576, Eukaryota

Ensembl GeneTree

More...GeneTreei		ENSGT00940000153733

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

More...HOGENOMi		CLU_022045_2_0_1

InParanoid: Eukaryotic Ortholog Groups

More...InParanoidi		Q9BVK2

KEGG Orthology (KO)

More...KOi		K03849

Identification of Orthologs from Complete Genome Data

More...OMAi		DVHRNWL

Database for complete collections of gene phylogenies

More...PhylomeDBi		Q9BVK2

TreeFam database of animal gene trees

More...TreeFami		TF315002

Family and domain databases

Integrated resource of protein families, domains and functional sites

More...InterProi		View protein in InterPro
IPR039487, ALG8
IPR004856, Glyco_trans_ALG6/ALG8

The PANTHER Classification System

More...PANTHERi		PTHR12413, PTHR12413, 1 hit
PTHR12413:SF2, PTHR12413:SF2, 1 hit

Pfam protein domain database

More...Pfami		View protein in Pfam
PF03155, Alg6_Alg8, 1 hit

<p>This section displays by default the canonical protein sequence and upon request all isoforms described in the entry. It also includes information pertinent to the sequence(s), including <a href="http://www.uniprot.org/help/sequence%5Flength">length</a> and <a href="http://www.uniprot.org/help/sequences">molecular weight</a>. The information is filed in different subsections. The current subsections and their content are listed below:<p><a href='/help/sequences_section' target='_top'>More...</a></p>Sequences (2+)i

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences%5Fsection">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical%5Fand%5Fisoforms">canonical sequence</a> displayed by default in the entry is complete or not.<p><a href='/help/sequence_status' target='_top'>More...</a></p>Sequence statusi: Complete.

This entry describes 2 <p>This subsection of the 'Sequence' section lists the alternative protein sequences (isoforms) that can be generated from the same gene by a single or by the combination of up to four biological events (alternative promoter usage, alternative splicing, alternative initiation and ribosomal frameshifting). Additionally, this section gives relevant information on each alternative protein isoform. This section is only present in reviewed entries, i.e. in UniProtKB/Swiss-Prot.<p><a href='/help/alternative_products' target='_top'>More...</a></p> isoformsi produced by alternative splicing. AlignAdd to basket

This 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 <div> <p><b>What is the canonical sequence?</b><p><a href='/help/canonical_and_isoforms' target='_top'>More...</a></p>canonicali 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
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
Length:526
Mass (Da):60,088
Last modified:April 3, 2007 - v2
<p>The checksum is a form of redundancy check that is calculated from the sequence. It is useful for tracking sequence updates.</p> <p>It should be noted that while, in theory, two different sequences could have the same checksum value, the likelihood that this would happen is extremely low.</p> <p>However UniProtKB may contain entries with identical sequences in case of multiple genes (paralogs).</p> <p>The checksum is computed as the sequence 64-bit Cyclic Redundancy Check value (CRC64) using the generator polynomial: x<sup>64</sup> + x<sup>4</sup> + x<sup>3</sup> + x + 1. The algorithm is described in the ISO 3309 standard. </p> <p class="publication">Press W.H., Flannery B.P., Teukolsky S.A. and Vetterling W.T.<br /> <strong>Cyclic redundancy and other checksums</strong><br /> <a href="http://www.nrbook.com/b/bookcpdf.php">Numerical recipes in C 2nd ed., pp896-902, Cambridge University Press (1993)</a>)</p> Checksum:i71589A4EC09C3BE7
GO
Isoform 2 (identifier: Q9BVK2-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     451-526: KEKPLFNWME...DSAIGKTKKQ → RSFTLVAQAGVQWHDLS

Show »
Length:467
Mass (Da):53,181
Checksum:iC790C4A6964929BF
GO

<p>In eukaryotic reference proteomes, unreviewed entries that are likely to belong to the same gene are computationally mapped, based on gene identifiers from Ensembl, EnsemblGenomes and model organism databases.<p><a href='/help/gene_centric_isoform_mapping' target='_top'>More...</a></p>Computationally mapped potential isoform sequencesi

There are 14 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
H0YCV0H0YCV0_HUMAN
Alpha-1,3-glucosyltransferase
ALG8
228Annotation score:

Annotation score:3 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
H0YD42H0YD42_HUMAN
Alpha-1,3-glucosyltransferase
ALG8
157Annotation score:

Annotation score:3 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
H0YDD3H0YDD3_HUMAN
Alpha-1,3-glucosyltransferase
ALG8
226Annotation score:

Annotation score:3 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
H0YDQ1H0YDQ1_HUMAN
Alpha-1,3-glucosyltransferase
ALG8
87Annotation score:

Annotation score:3 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
H0YDV4H0YDV4_HUMAN
Alpha-1,3-glucosyltransferase
ALG8
197Annotation score:

Annotation score:3 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
E9PK79E9PK79_HUMAN
Alpha-1,3-glucosyltransferase
ALG8
242Annotation score:

Annotation score:2 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
E9PKA5E9PKA5_HUMAN
Alpha-1,3-glucosyltransferase
ALG8
172Annotation score:

Annotation score:2 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
E9PNE2E9PNE2_HUMAN
Alpha-1,3-glucosyltransferase
ALG8
236Annotation score:

Annotation score:2 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
E9PP96E9PP96_HUMAN
Alpha-1,3-glucosyltransferase
ALG8
282Annotation score:

Annotation score:2 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
H0YEE0H0YEE0_HUMAN
Alpha-1,3-glucosyltransferase
ALG8
281Annotation score:

Annotation score:2 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
There are more potential isoformsShow all

<p>This subsection of the 'Sequence' section reports difference(s) between the protein sequence shown in the UniProtKB entry and other available protein sequences derived from the same gene.<p><a href='/help/sequence_caution' target='_top'>More...</a></p>Sequence cautioni

The sequence CAA12176 differs from that shown. Reason: Erroneous initiation. Extended N-terminus.Curated

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Sequence' section reports difference(s) between the canonical sequence (displayed by default in the entry) and the different sequence submissions merged in the entry. These various submissions may originate from different sequencing projects, different types of experiments, or different biological samples. Sequence conflicts are usually of unknown origin.<p><a href='/help/conflict' target='_top'>More...</a></p>Sequence conflicti478F → Y in CAA12176 (PubMed:11124703).Curated1
Sequence conflicti503I → V in AAH01133 (Ref. 3) Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_02348047T → P in CDG1H. 1 PublicationCorresponds to variant dbSNP:rs121908293EnsemblClinVar.1
Natural variantiVAR_080918179 – 526Missing in PCLD3. 1 PublicationAdd BLAST348
Natural variantiVAR_023481222N → S2 PublicationsCorresponds to variant dbSNP:rs665278EnsemblClinVar.1
Natural variantiVAR_023482275G → D in CDG1H. 1 PublicationCorresponds to variant dbSNP:rs121908294EnsemblClinVar.1
Natural variantiVAR_080919364 – 526Missing in PCLD3. 1 PublicationAdd BLAST163
Natural variantiVAR_031596439I → T. Corresponds to variant dbSNP:rs17825668EnsemblClinVar.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Sequence' section describes the sequence of naturally occurring alternative protein isoform(s). The changes in the amino acid sequence may be due to alternative splicing, alternative promoter usage, alternative initiation, or ribosomal frameshifting.<p><a href='/help/var_seq' target='_top'>More...</a></p>Alternative sequenceiVSP_046291451 – 526KEKPL…KTKKQ → RSFTLVAQAGVQWHDLS in isoform 2. CuratedAdd BLAST76

Sequence databases

Select the link destinations:

EMBL nucleotide sequence database

More...EMBLi

GenBank nucleotide sequence database

More...GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

More...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

The Consensus CDS (CCDS) project

More...CCDSi		CCDS41692.1 [Q9BVK2-2]
CCDS8258.1 [Q9BVK2-1]

NCBI Reference Sequences

More...RefSeqi		NP_001007028.1, NM_001007027.2 [Q9BVK2-2]
NP_076984.2, NM_024079.4 [Q9BVK2-1]

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...Ensembli		ENST00000299626; ENSP00000299626; ENSG00000159063 [Q9BVK2-1]
ENST00000376156; ENSP00000365326; ENSG00000159063 [Q9BVK2-2]
ENST00000615266; ENSP00000480742; ENSG00000159063 [Q9BVK2-2]

Database of genes from NCBI RefSeq genomes

More...GeneIDi		79053

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...KEGGi		hsa:79053

UCSC genome browser

More...UCSCi		uc001oyz.2, human [Q9BVK2-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

<p>This section provides links to proteins that are similar to the protein sequence(s) described in this entry at different levels of sequence identity thresholds (100%, 90% and 50%) based on their membership in UniProt Reference Clusters (<a href="http://www.uniprot.org/help/uniref">UniRef</a>).<p><a href='/help/similar_proteins_section' target='_top'>More...</a></p>Similar proteinsi

<p>This section is used to point to information related to entries and found in data collections other than UniProtKB.<p><a href='/help/cross_references_section' target='_top'>More...</a></p>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
CCDSiCCDS41692.1 [Q9BVK2-2]
CCDS8258.1 [Q9BVK2-1]
RefSeqiNP_001007028.1, NM_001007027.2 [Q9BVK2-2]
NP_076984.2, NM_024079.4 [Q9BVK2-1]

3D structure databases

SMRiQ9BVK2
ModBaseiSearch...

Protein-protein interaction databases

BioGRIDi122511, 41 interactors
IntActiQ9BVK2, 40 interactors
STRINGi9606.ENSP00000299626

Protein family/group databases

CAZyiGT57, Glycosyltransferase Family 57

PTM databases

iPTMnetiQ9BVK2
PhosphoSitePlusiQ9BVK2
SwissPalmiQ9BVK2

Polymorphism and mutation databases

BioMutaiALG8
DMDMi143811361

Proteomic databases

EPDiQ9BVK2
jPOSTiQ9BVK2
MassIVEiQ9BVK2
MaxQBiQ9BVK2
PaxDbiQ9BVK2
PeptideAtlasiQ9BVK2
PRIDEiQ9BVK2
ProteomicsDBi79213 [Q9BVK2-1]
937

Protocols and materials databases

Antibodypedia a portal for validated antibodies

More...Antibodypediai		31296, 110 antibodies

The DNASU plasmid repository

More...DNASUi		79053

Genome annotation databases

EnsembliENST00000299626; ENSP00000299626; ENSG00000159063 [Q9BVK2-1]
ENST00000376156; ENSP00000365326; ENSG00000159063 [Q9BVK2-2]
ENST00000615266; ENSP00000480742; ENSG00000159063 [Q9BVK2-2]
GeneIDi79053
KEGGihsa:79053
UCSCiuc001oyz.2, human [Q9BVK2-1]

Organism-specific databases

Comparative Toxicogenomics Database

More...CTDi		79053
DisGeNETi79053
EuPathDBiHostDB:ENSG00000159063.12

GeneCards: human genes, protein and diseases

More...GeneCardsi		ALG8
GeneReviewsiALG8
HGNCiHGNC:23161, ALG8
HPAiENSG00000159063, Low tissue specificity
MalaCardsiALG8
MIMi608103, gene
608104, phenotype
617874, phenotype
neXtProtiNX_Q9BVK2
OpenTargetsiENSG00000159063
Orphaneti79325, ALG8-CDG
PharmGKBiPA134942124

GenAtlas: human gene database

More...GenAtlasi		Search...

Phylogenomic databases

eggNOGiKOG2576, Eukaryota
GeneTreeiENSGT00940000153733
HOGENOMiCLU_022045_2_0_1
InParanoidiQ9BVK2
KOiK03849
OMAiDVHRNWL
PhylomeDBiQ9BVK2
TreeFamiTF315002

Enzyme and pathway databases

UniPathwayiUPA00378
BRENDAi2.4.1.265, 2681
PathwayCommonsiQ9BVK2
ReactomeiR-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 ORCS database of CRISPR phenotype screens

More...BioGRID-ORCSi		79053, 121 hits in 879 CRISPR screens

ChiTaRS: a database of human, mouse and fruit fly chimeric transcripts and RNA-sequencing data

More...ChiTaRSi		ALG8, human

The Gene Wiki collection of pages on human genes and proteins

More...GeneWikii		ALG8

Database of phenotypes from RNA interference screens in Drosophila and Homo sapiens

More...GenomeRNAii		79053
PharosiQ9BVK2, Tbio

Protein Ontology

More...PROi		PR:Q9BVK2
RNActiQ9BVK2, protein

The Stanford Online Universal Resource for Clones and ESTs

More...SOURCEi		Search...

Gene expression databases

BgeeiENSG00000159063, Expressed in right testis and 226 other tissues
ExpressionAtlasiQ9BVK2, baseline and differential
GenevisibleiQ9BVK2, HS

Family and domain databases

InterProiView protein in InterPro
IPR039487, ALG8
IPR004856, Glyco_trans_ALG6/ALG8
PANTHERiPTHR12413, PTHR12413, 1 hit
PTHR12413:SF2, PTHR12413:SF2, 1 hit
PfamiView protein in Pfam
PF03155, Alg6_Alg8, 1 hit

ProtoNet; Automatic hierarchical classification of proteins

More...ProtoNeti		Search...

MobiDB: a database of protein disorder and mobility annotations

More...MobiDBi		Search...

<p>This section provides general information on the entry.<p><a href='/help/entry_information_section' target='_top'>More...</a></p>Entry informationi

<p>This subsection of the 'Entry information' section provides a mnemonic identifier for a UniProtKB entry, but it is not a stable identifier. Each reviewed entry is assigned a unique entry name upon integration into UniProtKB/Swiss-Prot.<p><a href='/help/entry_name' target='_top'>More...</a></p>Entry nameiALG8_HUMAN
<p>This subsection of the 'Entry information' section provides one or more accession number(s). These are stable identifiers and should be used to cite UniProtKB entries. Upon integration into UniProtKB, each entry is assigned a unique accession number, which is called 'Primary (citable) accession number'.<p><a href='/help/accession_numbers' target='_top'>More...</a></p>AccessioniPrimary (citable) accession number: Q9BVK2
Secondary accession number(s): A6NDW6, O60860
<p>This subsection of the 'Entry information' section shows the date of integration of the entry into UniProtKB, the date of the last sequence update and the date of the last annotation modification ('Last modified'). The version number for both the entry and the <a href="http://www.uniprot.org/help/canonical%5Fand%5Fisoforms">canonical sequence</a> are also displayed.<p><a href='/help/entry_history' target='_top'>More...</a></p>Entry historyiIntegrated into UniProtKB/Swiss-Prot: May 27, 2002
Last sequence update: April 3, 2007
Last modified: October 7, 2020
This is version 173 of the entry and version 2 of the sequence. See complete history.
<p>This subsection of the 'Entry information' section indicates whether the entry has been manually annotated and reviewed by UniProtKB curators or not, in other words, if the entry belongs to the Swiss-Prot section of UniProtKB (<strong>reviewed</strong>) or to the computer-annotated TrEMBL section (<strong>unreviewed</strong>).<p><a href='/help/entry_status' target='_top'>More...</a></p>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.

<p>This section contains any relevant information that doesn't fit in any other defined sections<p><a href='/help/miscellaneous_section' target='_top'>More...</a></p>Miscellaneousi

Keywords - Technical termi

Reference proteome

Documents

  1. Human chromosome 11
    Human chromosome 11: entries, gene names and cross-references to MIM
  2. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  3. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  4. PATHWAY comments
    Index of metabolic and biosynthesis pathways
  5. SIMILARITY comments
    Index of protein domains and families
  6. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
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