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Entry version 167 (08 May 2019)
Sequence version 2 (27 Sep 2017)
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Protein

Dolichyl pyrophosphate Man9GlcNAc2 alpha-1,3-glucosyltransferase

Gene

ALG6

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 first 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 Man9GlcNAc2-PP-Dol.

<p>This subsection of the <a href="http://www.uniprot.org/help/function_section">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_section">'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

GO - Biological processi

<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
2.4.1.267 2681

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-4724289 Defective ALG6 causes ALG6-CDG (CDG-1c)

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_and_taxonomy_section">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:
Dolichyl pyrophosphate Man9GlcNAc2 alpha-1,3-glucosyltransferase (EC:2.4.1.267)
Alternative name(s):
Asparagine-linked glycosylation protein 6 homolog
Dol-P-Glc:Man(9)GlcNAc(2)-PP-Dol alpha-1,3-glucosyltransferase
Dolichyl-P-Glc:Man9GlcNAc2-PP-dolichyl glucosyltransferase
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">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:ALG6
ORF Names:My046
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">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_and_taxonomy_section">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_and_taxonomy_section">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 lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">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_manual">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 1

Organism-specific databases

Human Gene Nomenclature Database

More...
HGNCi
HGNC:23157 ALG6

Online Mendelian Inheritance in Man (OMIM)

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MIMi
604566 gene

neXtProt; the human protein knowledge platform

More...
neXtProti
NX_Q9Y672

<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_location_section">'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
Transmembranei115 – 135HelicalSequence analysisAdd BLAST21
Transmembranei144 – 164HelicalSequence analysisAdd BLAST21
Transmembranei173 – 193HelicalSequence analysisAdd BLAST21
Transmembranei227 – 247HelicalSequence analysisAdd BLAST21
Transmembranei298 – 318HelicalSequence analysisAdd BLAST21
Transmembranei324 – 344HelicalSequence analysisAdd BLAST21
Transmembranei362 – 382HelicalSequence analysisAdd BLAST21
Transmembranei388 – 408HelicalSequence analysisAdd BLAST21
Transmembranei438 – 458HelicalSequence analysisAdd BLAST21
Transmembranei473 – 493HelicalSequence 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 1C (CDG1C)7 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:603147
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_022511131Y → H in CDG1C. 2 PublicationsCorresponds to variant dbSNP:rs35383149EnsemblClinVar.1
Natural variantiVAR_022512170S → I in CDG1C. 1 Publication1
Natural variantiVAR_022513227G → E in CDG1C. 1 PublicationCorresponds to variant dbSNP:rs372079206EnsemblClinVar.1
Natural variantiVAR_013441299Missing in CDG1C. 1 Publication1
Natural variantiVAR_022514308S → R in CDG1C. 1 Publication1
Natural variantiVAR_013443333A → V in CDG1C. 3 PublicationsCorresponds to variant dbSNP:rs121908443EnsemblClinVar.1
Natural variantiVAR_022515444Missing in CDG1C. 1 Publication1
Natural variantiVAR_013444478S → P in CDG1C. 1 PublicationCorresponds to variant dbSNP:rs121908444EnsemblClinVar.1

Keywords - Diseasei

Congenital disorder of glycosylation, Disease mutation

Organism-specific databases

DisGeNET

More...
DisGeNETi
29929

MalaCards human disease database

More...
MalaCardsi
ALG6
MIMi603147 phenotype

Open Targets

More...
OpenTargetsi
ENSG00000088035

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

More...
Orphaneti
79320 ALG6-CDG

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...
PharmGKBi
PA134925619

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...
BioMutai
ALG6

Domain mapping of disease mutations (DMDM)

More...
DMDMi
21263380

<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.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_00001741561 – 507Dolichyl pyrophosphate Man9GlcNAc2 alpha-1,3-glucosyltransferaseAdd BLAST507

Proteomic databases

Encyclopedia of Proteome Dynamics

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EPDi
Q9Y672

jPOST - Japan Proteome Standard Repository/Database

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jPOSTi
Q9Y672

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

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PaxDbi
Q9Y672

PeptideAtlas

More...
PeptideAtlasi
Q9Y672

PRoteomics IDEntifications database

More...
PRIDEi
Q9Y672

ProteomicsDB human proteome resource

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ProteomicsDBi
86610

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

More...
iPTMneti
Q9Y672

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

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PhosphoSitePlusi
Q9Y672

SwissPalm database of S-palmitoylation events

More...
SwissPalmi
Q9Y672

<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

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Bgeei
ENSG00000088035 Expressed in 205 organ(s), highest expression level in secondary oocyte

ExpressionAtlas, Differential and Baseline Expression

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ExpressionAtlasi
Q9Y672 baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

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Genevisiblei
Q9Y672 HS

Organism-specific databases

Human Protein Atlas

More...
HPAi
HPA062536

<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

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGrid)

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BioGridi
118970, 17 interactors

Protein interaction database and analysis system

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IntActi
Q9Y672, 1 interactor

STRING: functional protein association networks

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STRINGi
9606.ENSP00000360149

<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

Keywords - Domaini

Transmembrane, Transmembrane helix

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

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eggNOGi
KOG2575 Eukaryota
ENOG410XQK1 LUCA

Ensembl GeneTree

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GeneTreei
ENSGT00940000153733

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

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HOGENOMi
HOG000195048

InParanoid: Eukaryotic Ortholog Groups

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InParanoidi
Q9Y672

KEGG Orthology (KO)

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KOi
K03848

Database of Orthologous Groups

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OrthoDBi
595382at2759

Database for complete collections of gene phylogenies

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PhylomeDBi
Q9Y672

TreeFam database of animal gene trees

More...
TreeFami
TF314522

Family and domain databases

Integrated resource of protein families, domains and functional sites

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InterProi
View protein in InterPro
IPR039488 ALG6
IPR004856 Glyco_trans_ALG6/ALG8

The PANTHER Classification System

More...
PANTHERi
PTHR12413 PTHR12413, 1 hit
PTHR12413:SF1 PTHR12413:SF1, 1 hit

Pfam protein domain database

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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_length">length</a> and <a href="http://www.uniprot.org/help/sequences">molecular weight</a>.<p><a href='/help/sequences_section' target='_top'>More...</a></p>Sequence (1+)i

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences_section">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical_and_isoforms">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 has 1 described isoform and 7 potential isoforms that are computationally mapped.Show allAlign All

Q9Y672-1 [UniParc]FASTAAdd to basket
« Hide
        10         20         30         40         50
MEKWYLMTVV VLIGLTVRWT VSLNSYSGAG KPPMFGDYEA QRHWQEITFN
60 70 80 90 100
LPVKQWYFNS SDNNLQYWGL DYPPLTAYHS LLCAYVAKFI NPDWIALHTS
110 120 130 140 150
RGYESQAHKL FMRTTVLIAD LLIYIPAVVL YCCCLKEIST KKKIANALCI
160 170 180 190 200
LLYPGLILID YGHFQYNSVS LGFALWGVLG ISCDCDLLGS LAFCLAINYK
210 220 230 240 250
QMELYHALPF FCFLLGKCFK KGLKGKGFVL LVKLACIVVA SFVLCWLPFF
260 270 280 290 300
TEREQTLQVL RRLFPVDRGL FEDKVANIWC SFNVFLKIKD ILPRHIQLIM
310 320 330 340 350
SFCSTFLSLL PACIKLILQP SSKGFKFTLV SCALSFFLFS FQVHEKSILL
360 370 380 390 400
VSLPVCLVLS EIPFMSTWFL LVSTFSMLPL LLKDELLMPS VVTTMAFFIA
410 420 430 440 450
CVTSFSIFEK TSEEELQLKS FSISVRKYLP CFTFLSRIIQ YLFLISVITM
460 470 480 490 500
VLLTLMTVTL DPPQKLPDLF SVLVCFVSCL NFLFFLVYFN IIIMWDSKSG

RNQKKIS
Length:507
Mass (Da):58,121
Last modified:September 27, 2017 - 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:i8BAC4BA9B8E366B9
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 7 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
S4R350S4R350_HUMAN
Alpha-1,3-glucosyltransferase
ALG6
301Annotation 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>
A0A3B3IS62A0A3B3IS62_HUMAN
Alpha-1,3-glucosyltransferase
ALG6
173Annotation 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>
A0A3B3ITD6A0A3B3ITD6_HUMAN
Alpha-1,3-glucosyltransferase
ALG6
194Annotation 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>
A0A3B3ITI5A0A3B3ITI5_HUMAN
Alpha-1,3-glucosyltransferase
ALG6
230Annotation 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>
A2A2G4A2A2G4_HUMAN
Alpha-1,3-glucosyltransferase
ALG6
509Annotation 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>
R4GMS5R4GMS5_HUMAN
Dolichyl pyrophosphate Man9GlcNAc2 ...
ALG6
43Annotation score:

Annotation score:1 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>
A0A3B3ITL6A0A3B3ITL6_HUMAN
Dolichyl pyrophosphate Man9GlcNAc2 ...
ALG6
61Annotation score:

Annotation score:1 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 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 conflicti111F → L in AAG43163 (Ref. 2) Curated1
Sequence conflicti374T → P in AAG43163 (Ref. 2) Curated1
Sequence conflicti394T → P in AAG43163 (Ref. 2) Curated1
Sequence conflicti457T → A in AAG43163 (Ref. 2) Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_022511131Y → H in CDG1C. 2 PublicationsCorresponds to variant dbSNP:rs35383149EnsemblClinVar.1
Natural variantiVAR_022512170S → I in CDG1C. 1 Publication1
Natural variantiVAR_055493226K → N. Corresponds to variant dbSNP:rs35604168EnsemblClinVar.1
Natural variantiVAR_022513227G → E in CDG1C. 1 PublicationCorresponds to variant dbSNP:rs372079206EnsemblClinVar.1
Natural variantiVAR_013441299Missing in CDG1C. 1 Publication1
Natural variantiVAR_013442304S → F Common polymorphism; may act as disease modifier and exacerbate clinical severity in patients with a congenital disorder of glycosylation; slightly decreased function as shown by rescue experiments of defective glycosylation in an alg6-deficient S.cerevisiae strain. 4 PublicationsCorresponds to variant dbSNP:rs4630153EnsemblClinVar.1
Natural variantiVAR_022514308S → R in CDG1C. 1 Publication1
Natural variantiVAR_013443333A → V in CDG1C. 3 PublicationsCorresponds to variant dbSNP:rs121908443EnsemblClinVar.1
Natural variantiVAR_022515444Missing in CDG1C. 1 Publication1
Natural variantiVAR_013444478S → P in CDG1C. 1 PublicationCorresponds to variant dbSNP:rs121908444EnsemblClinVar.1

Sequence databases

Select the link destinations:

EMBL nucleotide sequence database

More...
EMBLi

GenBank nucleotide sequence database

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GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

More...
DDBJi
Links Updated
AF102851 mRNA Translation: AAD41466.1
AF063604 mRNA Translation: AAG43163.1
AK022700 mRNA Translation: BAG51104.1
AL592218 Genomic DNA No translation available.
AL049636 Genomic DNA No translation available.
CH471059 Genomic DNA Translation: EAX06571.1
BC001253 mRNA Translation: AAH01253.1

The Consensus CDS (CCDS) project

More...
CCDSi
CCDS30735.1

NCBI Reference Sequences

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RefSeqi
NP_037471.2, NM_013339.3

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...
Ensembli
ENST00000263440; ENSP00000263440; ENSG00000088035
ENST00000371108; ENSP00000360149; ENSG00000088035

Database of genes from NCBI RefSeq genomes

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GeneIDi
29929

KEGG: Kyoto Encyclopedia of Genes and Genomes

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KEGGi
hsa:29929

UCSC genome browser

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UCSCi
uc021oof.1 human

Keywords - Coding sequence diversityi

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
AF102851 mRNA Translation: AAD41466.1
AF063604 mRNA Translation: AAG43163.1
AK022700 mRNA Translation: BAG51104.1
AL592218 Genomic DNA No translation available.
AL049636 Genomic DNA No translation available.
CH471059 Genomic DNA Translation: EAX06571.1
BC001253 mRNA Translation: AAH01253.1
CCDSiCCDS30735.1
RefSeqiNP_037471.2, NM_013339.3

3D structure databases

Database of comparative protein structure models

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ModBasei
Search...

MobiDB: a database of protein disorder and mobility annotations

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MobiDBi
Search...

SWISS-MODEL Interactive Workspace

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SWISS-MODEL-Workspacei
Submit a new modelling project...

Protein-protein interaction databases

BioGridi118970, 17 interactors
IntActiQ9Y672, 1 interactor
STRINGi9606.ENSP00000360149

Protein family/group databases

CAZyiGT57 Glycosyltransferase Family 57

PTM databases

iPTMnetiQ9Y672
PhosphoSitePlusiQ9Y672
SwissPalmiQ9Y672

Polymorphism and mutation databases

BioMutaiALG6
DMDMi21263380

Proteomic databases

EPDiQ9Y672
jPOSTiQ9Y672
PaxDbiQ9Y672
PeptideAtlasiQ9Y672
PRIDEiQ9Y672
ProteomicsDBi86610

Protocols and materials databases

The DNASU plasmid repository

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DNASUi
29929
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000263440; ENSP00000263440; ENSG00000088035
ENST00000371108; ENSP00000360149; ENSG00000088035
GeneIDi29929
KEGGihsa:29929
UCSCiuc021oof.1 human

Organism-specific databases

Comparative Toxicogenomics Database

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CTDi
29929
DisGeNETi29929

GeneCards: human genes, protein and diseases

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GeneCardsi
ALG6

H-Invitational Database, human transcriptome db

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H-InvDBi
HIX0000661
HGNCiHGNC:23157 ALG6
HPAiHPA062536
MalaCardsiALG6
MIMi603147 phenotype
604566 gene
neXtProtiNX_Q9Y672
OpenTargetsiENSG00000088035
Orphaneti79320 ALG6-CDG
PharmGKBiPA134925619

GenAtlas: human gene database

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GenAtlasi
Search...

Phylogenomic databases

eggNOGiKOG2575 Eukaryota
ENOG410XQK1 LUCA
GeneTreeiENSGT00940000153733
HOGENOMiHOG000195048
InParanoidiQ9Y672
KOiK03848
OrthoDBi595382at2759
PhylomeDBiQ9Y672
TreeFamiTF314522

Enzyme and pathway databases

UniPathwayi
UPA00378

BRENDAi2.4.1.267 2681
ReactomeiR-HSA-446193 Biosynthesis of the N-glycan precursor (dolichol lipid-linked oligosaccharide, LLO) and transfer to a nascent protein
R-HSA-4724289 Defective ALG6 causes ALG6-CDG (CDG-1c)

Miscellaneous databases

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

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ChiTaRSi
ALG6 human

The Gene Wiki collection of pages on human genes and proteins

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GeneWikii
ALG6

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

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GenomeRNAii
29929

Protein Ontology

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PROi
PR:Q9Y672

The Stanford Online Universal Resource for Clones and ESTs

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SOURCEi
Search...

Gene expression databases

BgeeiENSG00000088035 Expressed in 205 organ(s), highest expression level in secondary oocyte
ExpressionAtlasiQ9Y672 baseline and differential
GenevisibleiQ9Y672 HS

Family and domain databases

InterProiView protein in InterPro
IPR039488 ALG6
IPR004856 Glyco_trans_ALG6/ALG8
PANTHERiPTHR12413 PTHR12413, 1 hit
PTHR12413:SF1 PTHR12413:SF1, 1 hit
PfamiView protein in Pfam
PF03155 Alg6_Alg8, 1 hit

ProtoNet; Automatic hierarchical classification of proteins

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ProtoNeti
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<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 nameiALG6_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: Q9Y672
Secondary accession number(s): B3KMU2, Q5SXR9, Q9H3I0
<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_and_isoforms">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: September 27, 2017
Last modified: May 8, 2019
This is version 167 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

Complete proteome, Reference proteome

Documents

  1. Human chromosome 1
    Human chromosome 1: entries, gene names and cross-references to MIM
  2. SIMILARITY comments
    Index of protein domains and families
  3. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  4. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  5. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  6. PATHWAY comments
    Index of metabolic and biosynthesis pathways
UniProt is an ELIXIR core data resource
Main funding by: National Institutes of Health

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