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UniProtKB - Q92685 (ALG3_HUMAN)

Entry version 174 (10 Feb 2021)
Sequence version 1 (01 Feb 1997)
Previous versions | rss
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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:

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

<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		2.4.1.258, 2681

Pathway Commons web resource for biological pathway data

More...PathwayCommonsi		Q92685

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-4720475, Defective ALG3 causes ALG3-CDG (CDG-1d)

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

More...UniPathwayi		UPA00378

Protein family/group databases

Carbohydrate-Active enZymes

More...CAZyi		GT58, Glycosyltransferase Family 58

<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:
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
<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:ALG3
Synonyms:NOT, NOT56L
<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 3

Organism-specific databases

Human Gene Nomenclature Database

More...HGNCi		HGNC:23056, ALG3

Online Mendelian Inheritance in Man (OMIM)

More...MIMi		608750, gene

neXtProt; the human protein knowledge platform

More...neXtProti		NX_Q92685

Eukaryotic Pathogen, Vector and Host Database Resources

More...VEuPathDBi		HostDB:ENSG00000214160.9

<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>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

<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 1D (CDG1D)2 Publications
The disease is caused by variants affecting the gene represented in this entry.
Disease descriptionA form of congenital disorder of glycosylation, a multisystem disorder caused by a defect in glycoprotein biosynthesis and characterized by under-glycosylated serum glycoproteins. Congenital disorders of glycosylation result in a wide variety of clinical features, such as defects in the nervous system development, psychomotor retardation, dysmorphic features, hypotonia, coagulation disorders, and immunodeficiency. The broad spectrum of features reflects the critical role of N-glycoproteins during embryonic development, differentiation, and maintenance of cell functions.
Related information in 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_010306118G → D in CDG1D. 1 PublicationCorresponds to variant dbSNP:rs28940588EnsemblClinVar.1
Natural variantiVAR_037806171R → Q in CDG1D. 1 PublicationCorresponds to variant dbSNP:rs119103236EnsemblClinVar.1

Keywords - Diseasei

Congenital disorder of glycosylation, Disease variant

Organism-specific databases

DisGeNET

More...DisGeNETi		10195

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

More...GeneReviewsi		ALG3

MalaCards human disease database

More...MalaCardsi		ALG3
MIMi601110, phenotype

Open Targets

More...OpenTargetsi		ENSG00000214160

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

More...Orphaneti		79321, ALG3-CDG

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...PharmGKBi		PA134897460

Miscellaneous databases

Pharos NIH Druggable Genome Knowledgebase

More...Pharosi		Q92685, Tdark

Genetic variation databases

BioMuta curated single-nucleotide variation and disease association database

More...BioMutai		ALG3

Domain mapping of disease mutations (DMDM)

More...DMDMi		3024226

<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_00000805661 – 438Dol-P-Man:Man(5)GlcNAc(2)-PP-Dol alpha-1,3-mannosyltransferaseAdd BLAST438

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'PTM / Processing' section specifies the position and type of each modified residue excluding <a href="http://www.uniprot.org/manual/lipid">lipids</a>, <a href="http://www.uniprot.org/manual/carbohyd">glycans</a> and <a href="http://www.uniprot.org/manual/crosslnk">protein cross-links</a>.<p><a href='/help/mod_res' target='_top'>More...</a></p>Modified residuei13PhosphoserineCombined sources1

Keywords - PTMi

Phosphoprotein

Proteomic databases

Encyclopedia of Proteome Dynamics

More...EPDi		Q92685

jPOST - Japan Proteome Standard Repository/Database

More...jPOSTi		Q92685

MassIVE - Mass Spectrometry Interactive Virtual Environment

More...MassIVEi		Q92685

MaxQB - The MaxQuant DataBase

More...MaxQBi		Q92685

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

More...PaxDbi		Q92685

PeptideAtlas

More...PeptideAtlasi		Q92685

PRoteomics IDEntifications database

More...PRIDEi		Q92685

ProteomicsDB: a multi-organism proteome resource

More...ProteomicsDBi		75406 [Q92685-1]
75407 [Q92685-2]

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

More...iPTMneti		Q92685

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

More...PhosphoSitePlusi		Q92685

<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		ENSG00000214160, Expressed in right adrenal gland and 173 other tissues

ExpressionAtlas, Differential and Baseline Expression

More...ExpressionAtlasi		Q92685, baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

More...Genevisiblei		Q92685, HS

Organism-specific databases

Human Protein Atlas

More...HPAi		ENSG00000214160, Tissue enhanced (liver)

<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		115490, 26 interactors

Protein interaction database and analysis system

More...IntActi		Q92685, 31 interactors

Molecular INTeraction database

More...MINTi		Q92685

STRING: functional protein association networks

More...STRINGi		9606.ENSP00000380793

Miscellaneous databases

RNAct, Protein-RNA interaction predictions for model organisms.

More...RNActi		Q92685, protein

<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 glycosyltransferase 58 family.Curated

Keywords - Domaini

Transmembrane, Transmembrane helix

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...eggNOGi		KOG2762, Eukaryota

Ensembl GeneTree

More...GeneTreei		ENSGT00390000013904

InParanoid: Eukaryotic Ortholog Groups

More...InParanoidi		Q92685

Identification of Orthologs from Complete Genome Data

More...OMAi		AAHVYIY

Database of Orthologous Groups

More...OrthoDBi		774318at2759

Database for complete collections of gene phylogenies

More...PhylomeDBi		Q92685

TreeFam database of animal gene trees

More...TreeFami		TF105870

Family and domain databases

Integrated resource of protein families, domains and functional sites

More...InterProi		View protein in InterPro
IPR007873, Glycosyltransferase_ALG3

The PANTHER Classification System

More...PANTHERi		PTHR12646, PTHR12646, 1 hit

Pfam protein domain database

More...Pfami		View protein in Pfam
PF05208, ALG3, 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 5 potential isoforms that are computationally mapped.Show allAlign All

Isoform 1 (identifier: Q92685-1) [UniParc]FASTAAdd to basket

This isoform has been chosen as the <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
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
<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: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

Show »
Length:390
Mass (Da):44,370
Checksum:iCCE950E0FFA23449
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 5 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
C9J7S5C9J7S5_HUMAN
Dol-P-Man:Man(5)GlcNAc(2)-PP-Dol al...
ALG3
398Annotation 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>
H7C0X4H7C0X4_HUMAN
Dol-P-Man:Man(5)GlcNAc(2)-PP-Dol al...
ALG3
323Annotation 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>
F8WE30F8WE30_HUMAN
Dol-P-Man:Man(5)GlcNAc(2)-PP-Dol al...
ALG3
107Annotation 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>
H7BZZ2H7BZZ2_HUMAN
Dol-P-Man:Man(5)GlcNAc(2)-PP-Dol al...
ALG3
105Annotation 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>
F8WF93F8WF93_HUMAN
Dol-P-Man:Man(5)GlcNAc(2)-PP-Dol al...
ALG3
65Annotation 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>

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_037805107I → V. Corresponds to variant dbSNP:rs2233463EnsemblClinVar.1
Natural variantiVAR_010306118G → D in CDG1D. 1 PublicationCorresponds to variant dbSNP:rs28940588EnsemblClinVar.1
Natural variantiVAR_037806171R → Q in CDG1D. 1 PublicationCorresponds to variant dbSNP:rs119103236EnsemblClinVar.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_0427381 – 66MAAGL…HRVAY → MFPAQAKENAGFSGCGGD in isoform 2. 1 PublicationAdd BLAST66

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
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

The Consensus CDS (CCDS) project

More...CCDSi		CCDS46967.1 [Q92685-2]
CCDS46968.1 [Q92685-1]

NCBI Reference Sequences

More...RefSeqi		NP_001006942.1, NM_001006941.2 [Q92685-2]
NP_005778.1, NM_005787.5 [Q92685-1]

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...Ensembli		ENST00000397676; ENSP00000380793; ENSG00000214160 [Q92685-1]
ENST00000445626; ENSP00000402744; ENSG00000214160 [Q92685-2]

Database of genes from NCBI RefSeq genomes

More...GeneIDi		10195

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...KEGGi		hsa:10195

UCSC genome browser

More...UCSCi		uc003fne.3, human [Q92685-1]

Keywords - Coding sequence diversityi

Alternative splicing

<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
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]

3D structure databases

Database of comparative protein structure models

More...ModBasei		Search...

SWISS-MODEL Interactive Workspace

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

Protein-protein interaction databases

BioGRIDi115490, 26 interactors
IntActiQ92685, 31 interactors
MINTiQ92685
STRINGi9606.ENSP00000380793

Protein family/group databases

CAZyiGT58, Glycosyltransferase Family 58

PTM databases

iPTMnetiQ92685
PhosphoSitePlusiQ92685

Genetic variation databases

BioMutaiALG3
DMDMi3024226

Proteomic databases

EPDiQ92685
jPOSTiQ92685
MassIVEiQ92685
MaxQBiQ92685
PaxDbiQ92685
PeptideAtlasiQ92685
PRIDEiQ92685
ProteomicsDBi75406 [Q92685-1]
75407 [Q92685-2]

Protocols and materials databases

Antibodypedia a portal for validated antibodies

More...Antibodypediai		52417, 13 antibodies

The DNASU plasmid repository

More...DNASUi		10195

Genome annotation databases

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

Organism-specific databases

Comparative Toxicogenomics Database

More...CTDi		10195
DisGeNETi10195

GeneCards: human genes, protein and diseases

More...GeneCardsi		ALG3
GeneReviewsiALG3
HGNCiHGNC:23056, ALG3
HPAiENSG00000214160, Tissue enhanced (liver)
MalaCardsiALG3
MIMi601110, phenotype
608750, gene
neXtProtiNX_Q92685
OpenTargetsiENSG00000214160
Orphaneti79321, ALG3-CDG
PharmGKBiPA134897460
VEuPathDBiHostDB:ENSG00000214160.9

GenAtlas: human gene database

More...GenAtlasi		Search...

Phylogenomic databases

eggNOGiKOG2762, Eukaryota
GeneTreeiENSGT00390000013904
InParanoidiQ92685
OMAiAAHVYIY
OrthoDBi774318at2759
PhylomeDBiQ92685
TreeFamiTF105870

Enzyme and pathway databases

UniPathwayiUPA00378
BRENDAi2.4.1.258, 2681
PathwayCommonsiQ92685
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)

Miscellaneous databases

BioGRID ORCS database of CRISPR phenotype screens

More...BioGRID-ORCSi		10195, 25 hits in 883 CRISPR screens

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

More...ChiTaRSi		ALG3, human

The Gene Wiki collection of pages on human genes and proteins

More...GeneWikii		ALG3

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

More...GenomeRNAii		10195
PharosiQ92685, Tdark

Protein Ontology

More...PROi		PR:Q92685
RNActiQ92685, protein

The Stanford Online Universal Resource for Clones and ESTs

More...SOURCEi		Search...

Gene expression databases

BgeeiENSG00000214160, Expressed in right adrenal gland and 173 other tissues
ExpressionAtlasiQ92685, baseline and differential
GenevisibleiQ92685, HS

Family and domain databases

InterProiView protein in InterPro
IPR007873, Glycosyltransferase_ALG3
PANTHERiPTHR12646, PTHR12646, 1 hit
PfamiView protein in Pfam
PF05208, ALG3, 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 nameiALG3_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: Q92685
Secondary accession number(s): A8JZZ6, Q9BT71
<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: July 15, 1998
Last sequence update: February 1, 1997
Last modified: February 10, 2021
This is version 174 of the entry and version 1 of the sequence. See complete history.
<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 entries with genetic variants
    List of human entries with genetic variants
  2. Human variants curated from literature reports
    Index of human variants curated from literature reports
  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 chromosome 3
    Human chromosome 3: entries, gene names and cross-references to MIM
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