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Entry version 168 (16 Oct 2019)
Sequence version 2 (30 Aug 2005)
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Protein

Chitobiosyldiphosphodolichol beta-mannosyltransferase

Gene

ALG1

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

Participates in the formation of the lipid-linked precursor oligosaccharide for N-glycosylation. Involved in assembling the dolichol-pyrophosphate-GlcNAc2-Man5 intermediate on the cytoplasmic surface of the ER.2 Publications

<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
2.4.1.142 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-4549380 Defective ALG1 causes ALG1-CDG (CDG-1k)

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

More...
UniPathwayi
UPA00378

Protein family/group databases

Carbohydrate-Active enZymes

More...
CAZyi
GT33 Glycosyltransferase Family 33

<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:
Chitobiosyldiphosphodolichol beta-mannosyltransferase (EC:2.4.1.142)
Alternative name(s):
Asparagine-linked glycosylation protein 1 homolog
Beta-1,4-mannosyltransferase
GDP-Man:GlcNAc2-PP-dolichol mannosyltransferase
GDP-mannose-dolichol diphosphochitobiose mannosyltransferase
Mannosyltransferase-1
Short name:
MT-1
Short name:
hMat-1
<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:ALG1
Synonyms:HMAT1, HMT1
ORF Names:PSEC0061, UNQ861/PRO1870
<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 16

Organism-specific databases

Human Gene Nomenclature Database

More...
HGNCi
HGNC:18294 ALG1

Online Mendelian Inheritance in Man (OMIM)

More...
MIMi
605907 gene

neXtProt; the human protein knowledge platform

More...
neXtProti
NX_Q9BT22

<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 subcellular compartment where each non-membrane region of a membrane-spanning protein is found.<p><a href='/help/topo_dom' target='_top'>More...</a></p>Topological domaini1 – 2CytoplasmicSequence analysis2
<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>Transmembranei3 – 23Helical; Signal-anchor for type II membrane proteinSequence analysisAdd BLAST21
Topological domaini24 – 464LumenalSequence analysisAdd BLAST441

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 1K (CDG1K)4 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.
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_07718750Q → R in CDG1K; decreased function in protein glycosylation as shown by rescue assays in an ALG1-deficient yeast strain. 1 PublicationCorresponds to variant dbSNP:rs794726944EnsemblClinVar.1
Natural variantiVAR_07718871S → F in CDG1K; decreased function in protein glycosylation as shown by rescue assays in an ALG1-deficient yeast strain. 1 PublicationCorresponds to variant dbSNP:rs200605408Ensembl.1
Natural variantiVAR_07718974H → L in CDG1K; decreased function in protein glycosylation as shown by rescue assays in an ALG1-deficient yeast strain. 1 PublicationCorresponds to variant dbSNP:rs201337379Ensembl.1
Natural variantiVAR_07719088L → V in CDG1K; decreased function in protein glycosylation as shown by rescue assays in an ALG1-deficient yeast strain. 1 PublicationCorresponds to variant dbSNP:rs794727301Ensembl.1
Natural variantiVAR_07719198P → L in CDG1K; decreased function in protein glycosylation as shown by rescue assays in an ALG1-deficient yeast strain. 1 Publication1
Natural variantiVAR_077192114L → F in CDG1K; decreased function in protein glycosylation as shown by rescue assays in an ALG1-deficient yeast strain. 1 Publication1
Natural variantiVAR_023364150S → R in CDG1K; decreased function in protein glycosylation as shown by rescue assays in an ALG1-deficient yeast strain. 2 PublicationsCorresponds to variant dbSNP:rs121908340EnsemblClinVar.1
Natural variantiVAR_077193209I → S in CDG1K; decreased function in protein glycosylation as shown by rescue assays in an ALG1-deficient yeast strain. 1 Publication1
Natural variantiVAR_023365258S → L in CDG1K; decreased function in protein glycosylation as shown by rescue assays in an ALG1-deficient yeast strain. 4 PublicationsCorresponds to variant dbSNP:rs28939378EnsemblClinVar.1
Natural variantiVAR_077194276R → W in CDG1K; decreased function in protein glycosylation as shown by rescue assays in an ALG1-deficient yeast strain. 1 PublicationCorresponds to variant dbSNP:rs151173406EnsemblClinVar.1
Natural variantiVAR_077195281V → F in CDG1K; decreased function in protein glycosylation as shown by rescue assays in an ALG1-deficient yeast strain. 1 PublicationCorresponds to variant dbSNP:rs553396382Ensembl.1
Natural variantiVAR_077196289D → G in CDG1K; decreased function in protein glycosylation as shown by rescue assays in an ALG1-deficient yeast strain. 1 PublicationCorresponds to variant dbSNP:rs1180515976Ensembl.1
Natural variantiVAR_077197291D → V in CDG1K; decreased function in protein glycosylation as shown by rescue assays in an ALG1-deficient yeast strain. 1 PublicationCorresponds to variant dbSNP:rs192564717Ensembl.1
Natural variantiVAR_023366342Q → P in CDG1K; decreased function in protein glycosylation as shown by rescue assays in an ALG1-deficient yeast strain. 1 PublicationCorresponds to variant dbSNP:rs267606651EnsemblClinVar.1
Natural variantiVAR_077198353Y → D in CDG1K; decreased function in protein glycosylation as shown by rescue assays in an ALG1-deficient yeast strain. 1 Publication1
Natural variantiVAR_077199358G → R in CDG1K; decreased function in protein glycosylation as shown by rescue assays in an ALG1-deficient yeast strain. 1 PublicationCorresponds to variant dbSNP:rs886042742EnsemblClinVar.1
Natural variantiVAR_077200359S → L in CDG1K; decreased function in protein glycosylation as shown by rescue assays in an ALG1-deficient yeast strain. 1 PublicationCorresponds to variant dbSNP:rs1299775990Ensembl.1
Natural variantiVAR_077201360A → V in CDG1K; decreased function in protein glycosylation as shown by rescue assays in an ALG1-deficient yeast strain. 1 PublicationCorresponds to variant dbSNP:rs398124348EnsemblClinVar.1
Natural variantiVAR_077202363G → A in CDG1K; decreased function in protein glycosylation as shown by rescue assays in an ALG1-deficient yeast strain. 1 Publication1
Natural variantiVAR_077203366L → Q in CDG1K; decreased function in protein glycosylation as shown by rescue assays in an ALG1-deficient yeast strain. 1 Publication1
Natural variantiVAR_077204367H → Q in CDG1K; decreased function in protein glycosylation as shown by rescue assays in an ALG1-deficient yeast strain. 1 Publication1
Natural variantiVAR_077205382M → K in CDG1K; decreased function in protein glycosylation as shown by rescue assays in an ALG1-deficient yeast strain. 1 Publication1
Natural variantiVAR_077206384G → R in CDG1K; decreased function in protein glycosylation as shown by rescue assays in an ALG1-deficient yeast strain. 1 PublicationCorresponds to variant dbSNP:rs1057520122EnsemblClinVar.1
Natural variantiVAR_077207388P → S in CDG1K; decreased function in protein glycosylation as shown by rescue assays in an ALG1-deficient yeast strain. 1 PublicationCorresponds to variant dbSNP:rs398124349EnsemblClinVar.1
Natural variantiVAR_049350438R → W in CDG1K; decreased function in protein glycosylation as shown by rescue assays in an ALG1-deficient yeast strain. 1 PublicationCorresponds to variant dbSNP:rs16835020Ensembl.1

Keywords - Diseasei

Congenital disorder of glycosylation, Disease mutation

Organism-specific databases

DisGeNET

More...
DisGeNETi
56052

MalaCards human disease database

More...
MalaCardsi
ALG1
MIMi608540 phenotype

Open Targets

More...
OpenTargetsi
ENSG00000033011

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

More...
Orphaneti
79327 ALG1-CDG

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...
PharmGKBi
PA134979319

Miscellaneous databases

Pharos NIH Druggable Genome Knowledgebase

More...
Pharosi
Q9BT22

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...
BioMutai
ALG1

Domain mapping of disease mutations (DMDM)

More...
DMDMi
73921663

<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_00000802491 – 464Chitobiosyldiphosphodolichol beta-mannosyltransferaseAdd BLAST464

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 residuei242PhosphoserineCombined sources1

Keywords - PTMi

Phosphoprotein

Proteomic databases

Encyclopedia of Proteome Dynamics

More...
EPDi
Q9BT22

jPOST - Japan Proteome Standard Repository/Database

More...
jPOSTi
Q9BT22

MassIVE - Mass Spectrometry Interactive Virtual Environment

More...
MassIVEi
Q9BT22

MaxQB - The MaxQuant DataBase

More...
MaxQBi
Q9BT22

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

More...
PaxDbi
Q9BT22

PeptideAtlas

More...
PeptideAtlasi
Q9BT22

PRoteomics IDEntifications database

More...
PRIDEi
Q9BT22

ProteomicsDB: a multi-organism proteome resource

More...
ProteomicsDBi
4740
78943 [Q9BT22-1]

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

More...
iPTMneti
Q9BT22

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

More...
PhosphoSitePlusi
Q9BT22

SwissPalm database of S-palmitoylation events

More...
SwissPalmi
Q9BT22

<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
ENSG00000033011 Expressed in 128 organ(s), highest expression level in right adrenal gland

ExpressionAtlas, Differential and Baseline Expression

More...
ExpressionAtlasi
Q9BT22 baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

More...
Genevisiblei
Q9BT22 HS

Organism-specific databases

Human Protein Atlas

More...
HPAi
HPA060392

<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)

More...
BioGridi
121033, 17 interactors

Protein interaction database and analysis system

More...
IntActi
Q9BT22, 10 interactors

Molecular INTeraction database

More...
MINTi
Q9BT22

STRING: functional protein association networks

More...
STRINGi
9606.ENSP00000262374

<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

Signal-anchor, Transmembrane, Transmembrane helix

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...
eggNOGi
KOG2941 Eukaryota
COG0438 LUCA

Ensembl GeneTree

More...
GeneTreei
ENSGT00390000008647

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

More...
HOGENOMi
HOG000216716

InParanoid: Eukaryotic Ortholog Groups

More...
InParanoidi
Q9BT22

KEGG Orthology (KO)

More...
KOi
K03842

Identification of Orthologs from Complete Genome Data

More...
OMAi
PLKVLWQ

Database of Orthologous Groups

More...
OrthoDBi
816895at2759

Database for complete collections of gene phylogenies

More...
PhylomeDBi
Q9BT22

TreeFam database of animal gene trees

More...
TreeFami
TF314121

Family and domain databases

Integrated resource of protein families, domains and functional sites

More...
InterProi
View protein in InterPro
IPR026051 ALG1-like
IPR001296 Glyco_trans_1

The PANTHER Classification System

More...
PANTHERi
PTHR13036 PTHR13036, 1 hit

Pfam protein domain database

More...
Pfami
View protein in Pfam
PF00534 Glycos_transf_1, 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>. 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_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 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.<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 3 potential isoforms that are computationally mapped.Show allAlign All

Isoform 1 (identifier: Q9BT22-1) [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
MAASCLVLLA LCLLLPLLLL GGWKRWRRGR AARHVVAVVL GDVGRSPRMQ
60 70 80 90 100
YHALSLAMHG FSVTLLGFCN SKPHDELLQN NRIQIVGLTE LQSLAVGPRV
110 120 130 140 150
FQYGVKVVLQ AMYLLWKLMW REPGAYIFLQ NPPGLPSIAV CWFVGCLCGS
160 170 180 190 200
KLVIDWHNYG YSIMGLVHGP NHPLVLLAKW YEKFFGRLSH LNLCVTNAMR
210 220 230 240 250
EDLADNWHIR AVTVYDKPAS FFKETPLDLQ HRLFMKLGSM HSPFRARSEP
260 270 280 290 300
EDPVTERSAF TERDAGSGLV TRLRERPALL VSSTSWTEDE DFSILLAALE
310 320 330 340 350
KFEQLTLDGH NLPSLVCVIT GKGPLREYYS RLIHQKHFQH IQVCTPWLEA
360 370 380 390 400
EDYPLLLGSA DLGVCLHTSS SGLDLPMKVV DMFGCCLPVC AVNFKCLHEL
410 420 430 440 450
VKHEENGLVF EDSEELAAQL QMLFSNFPDP AGKLNQFRKN LRESQQLRWD
460
ESWVQTVLPL VMDT
Length:464
Mass (Da):52,518
Last modified:August 30, 2005 - 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:i83F55FD12CFDDBE9
GO
Isoform 2 (identifier: Q9BT22-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-111: Missing.

Note: No experimental confirmation available.
Show »
Length:353
Mass (Da):40,338
Checksum:i118C424301EABD77
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 3 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
K7EPU3K7EPU3_HUMAN
Chitobiosyldiphosphodolichol beta-m...
ALG1
184Annotation 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>
K7EID2K7EID2_HUMAN
Chitobiosyldiphosphodolichol beta-m...
ALG1
167Annotation 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>
K7EQK1K7EQK1_HUMAN
Chitobiosyldiphosphodolichol beta-m...
ALG1
84Annotation 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>

<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 AAQ89432 differs from that shown. Reason: Erroneous initiation.Curated

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_07718750Q → R in CDG1K; decreased function in protein glycosylation as shown by rescue assays in an ALG1-deficient yeast strain. 1 PublicationCorresponds to variant dbSNP:rs794726944EnsemblClinVar.1
Natural variantiVAR_07718871S → F in CDG1K; decreased function in protein glycosylation as shown by rescue assays in an ALG1-deficient yeast strain. 1 PublicationCorresponds to variant dbSNP:rs200605408Ensembl.1
Natural variantiVAR_07718974H → L in CDG1K; decreased function in protein glycosylation as shown by rescue assays in an ALG1-deficient yeast strain. 1 PublicationCorresponds to variant dbSNP:rs201337379Ensembl.1
Natural variantiVAR_07719088L → V in CDG1K; decreased function in protein glycosylation as shown by rescue assays in an ALG1-deficient yeast strain. 1 PublicationCorresponds to variant dbSNP:rs794727301Ensembl.1
Natural variantiVAR_07719198P → L in CDG1K; decreased function in protein glycosylation as shown by rescue assays in an ALG1-deficient yeast strain. 1 Publication1
Natural variantiVAR_077192114L → F in CDG1K; decreased function in protein glycosylation as shown by rescue assays in an ALG1-deficient yeast strain. 1 Publication1
Natural variantiVAR_023364150S → R in CDG1K; decreased function in protein glycosylation as shown by rescue assays in an ALG1-deficient yeast strain. 2 PublicationsCorresponds to variant dbSNP:rs121908340EnsemblClinVar.1
Natural variantiVAR_077193209I → S in CDG1K; decreased function in protein glycosylation as shown by rescue assays in an ALG1-deficient yeast strain. 1 Publication1
Natural variantiVAR_023365258S → L in CDG1K; decreased function in protein glycosylation as shown by rescue assays in an ALG1-deficient yeast strain. 4 PublicationsCorresponds to variant dbSNP:rs28939378EnsemblClinVar.1
Natural variantiVAR_038425267S → N Polymorphism; no effect on function in protein glycosylation. 2 PublicationsCorresponds to variant dbSNP:rs17849848EnsemblClinVar.1
Natural variantiVAR_077194276R → W in CDG1K; decreased function in protein glycosylation as shown by rescue assays in an ALG1-deficient yeast strain. 1 PublicationCorresponds to variant dbSNP:rs151173406EnsemblClinVar.1
Natural variantiVAR_077195281V → F in CDG1K; decreased function in protein glycosylation as shown by rescue assays in an ALG1-deficient yeast strain. 1 PublicationCorresponds to variant dbSNP:rs553396382Ensembl.1
Natural variantiVAR_077196289D → G in CDG1K; decreased function in protein glycosylation as shown by rescue assays in an ALG1-deficient yeast strain. 1 PublicationCorresponds to variant dbSNP:rs1180515976Ensembl.1
Natural variantiVAR_077197291D → V in CDG1K; decreased function in protein glycosylation as shown by rescue assays in an ALG1-deficient yeast strain. 1 PublicationCorresponds to variant dbSNP:rs192564717Ensembl.1
Natural variantiVAR_038426325L → M1 PublicationCorresponds to variant dbSNP:rs17852920Ensembl.1
Natural variantiVAR_023366342Q → P in CDG1K; decreased function in protein glycosylation as shown by rescue assays in an ALG1-deficient yeast strain. 1 PublicationCorresponds to variant dbSNP:rs267606651EnsemblClinVar.1
Natural variantiVAR_077198353Y → D in CDG1K; decreased function in protein glycosylation as shown by rescue assays in an ALG1-deficient yeast strain. 1 Publication1
Natural variantiVAR_077199358G → R in CDG1K; decreased function in protein glycosylation as shown by rescue assays in an ALG1-deficient yeast strain. 1 PublicationCorresponds to variant dbSNP:rs886042742EnsemblClinVar.1
Natural variantiVAR_077200359S → L in CDG1K; decreased function in protein glycosylation as shown by rescue assays in an ALG1-deficient yeast strain. 1 PublicationCorresponds to variant dbSNP:rs1299775990Ensembl.1
Natural variantiVAR_077201360A → V in CDG1K; decreased function in protein glycosylation as shown by rescue assays in an ALG1-deficient yeast strain. 1 PublicationCorresponds to variant dbSNP:rs398124348EnsemblClinVar.1
Natural variantiVAR_077202363G → A in CDG1K; decreased function in protein glycosylation as shown by rescue assays in an ALG1-deficient yeast strain. 1 Publication1
Natural variantiVAR_077203366L → Q in CDG1K; decreased function in protein glycosylation as shown by rescue assays in an ALG1-deficient yeast strain. 1 Publication1
Natural variantiVAR_077204367H → Q in CDG1K; decreased function in protein glycosylation as shown by rescue assays in an ALG1-deficient yeast strain. 1 Publication1
Natural variantiVAR_077205382M → K in CDG1K; decreased function in protein glycosylation as shown by rescue assays in an ALG1-deficient yeast strain. 1 Publication1
Natural variantiVAR_077206384G → R in CDG1K; decreased function in protein glycosylation as shown by rescue assays in an ALG1-deficient yeast strain. 1 PublicationCorresponds to variant dbSNP:rs1057520122EnsemblClinVar.1
Natural variantiVAR_077207388P → S in CDG1K; decreased function in protein glycosylation as shown by rescue assays in an ALG1-deficient yeast strain. 1 PublicationCorresponds to variant dbSNP:rs398124349EnsemblClinVar.1
Natural variantiVAR_023367429D → E Polymorphism; no effect on function in protein glycosylation as shown by rescue assays in an ALG1-deficient yeast strain. 1 PublicationCorresponds to variant dbSNP:rs9745522Ensembl.1
Natural variantiVAR_049350438R → W in CDG1K; decreased function in protein glycosylation as shown by rescue assays in an ALG1-deficient yeast strain. 1 PublicationCorresponds to variant dbSNP:rs16835020Ensembl.1
Natural variantiVAR_038427455Q → R1 PublicationCorresponds to variant dbSNP:rs17856919Ensembl.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_0569311 – 111Missing in isoform 2. 1 PublicationAdd BLAST111

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
AB019038 mRNA Translation: BAA90748.1
AK298144 mRNA Translation: BAG60420.1
AK075373 mRNA Translation: BAC11576.1
AC026458 Genomic DNA No translation available.
BC004402 mRNA Translation: AAH04402.1
BC031095 mRNA Translation: AAH31095.1
AY359073 mRNA Translation: AAQ89432.1 Different initiation.

The Consensus CDS (CCDS) project

More...
CCDSi
CCDS10528.1 [Q9BT22-1]
CCDS81946.1 [Q9BT22-2]

NCBI Reference Sequences

More...
RefSeqi
NP_001317433.1, NM_001330504.1 [Q9BT22-2]
NP_061982.3, NM_019109.4 [Q9BT22-1]
XP_016878947.1, XM_017023458.1 [Q9BT22-2]

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...
Ensembli
ENST00000262374; ENSP00000262374; ENSG00000033011 [Q9BT22-1]
ENST00000544428; ENSP00000440019; ENSG00000033011 [Q9BT22-2]
ENST00000588623; ENSP00000468118; ENSG00000033011 [Q9BT22-2]

Database of genes from NCBI RefSeq genomes

More...
GeneIDi
56052

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...
KEGGi
hsa:56052

UCSC genome browser

More...
UCSCi
uc002cyj.4 human [Q9BT22-1]

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
AB019038 mRNA Translation: BAA90748.1
AK298144 mRNA Translation: BAG60420.1
AK075373 mRNA Translation: BAC11576.1
AC026458 Genomic DNA No translation available.
BC004402 mRNA Translation: AAH04402.1
BC031095 mRNA Translation: AAH31095.1
AY359073 mRNA Translation: AAQ89432.1 Different initiation.
CCDSiCCDS10528.1 [Q9BT22-1]
CCDS81946.1 [Q9BT22-2]
RefSeqiNP_001317433.1, NM_001330504.1 [Q9BT22-2]
NP_061982.3, NM_019109.4 [Q9BT22-1]
XP_016878947.1, XM_017023458.1 [Q9BT22-2]

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

BioGridi121033, 17 interactors
IntActiQ9BT22, 10 interactors
MINTiQ9BT22
STRINGi9606.ENSP00000262374

Protein family/group databases

CAZyiGT33 Glycosyltransferase Family 33

PTM databases

iPTMnetiQ9BT22
PhosphoSitePlusiQ9BT22
SwissPalmiQ9BT22

Polymorphism and mutation databases

BioMutaiALG1
DMDMi73921663

Proteomic databases

EPDiQ9BT22
jPOSTiQ9BT22
MassIVEiQ9BT22
MaxQBiQ9BT22
PaxDbiQ9BT22
PeptideAtlasiQ9BT22
PRIDEiQ9BT22
ProteomicsDBi4740
78943 [Q9BT22-1]

Protocols and materials databases

The DNASU plasmid repository

More...
DNASUi
56052

Genome annotation databases

EnsembliENST00000262374; ENSP00000262374; ENSG00000033011 [Q9BT22-1]
ENST00000544428; ENSP00000440019; ENSG00000033011 [Q9BT22-2]
ENST00000588623; ENSP00000468118; ENSG00000033011 [Q9BT22-2]
GeneIDi56052
KEGGihsa:56052
UCSCiuc002cyj.4 human [Q9BT22-1]

Organism-specific databases

Comparative Toxicogenomics Database

More...
CTDi
56052
DisGeNETi56052

GeneCards: human genes, protein and diseases

More...
GeneCardsi
ALG1
HGNCiHGNC:18294 ALG1
HPAiHPA060392
MalaCardsiALG1
MIMi605907 gene
608540 phenotype
neXtProtiNX_Q9BT22
OpenTargetsiENSG00000033011
Orphaneti79327 ALG1-CDG
PharmGKBiPA134979319

GenAtlas: human gene database

More...
GenAtlasi
Search...

Phylogenomic databases

eggNOGiKOG2941 Eukaryota
COG0438 LUCA
GeneTreeiENSGT00390000008647
HOGENOMiHOG000216716
InParanoidiQ9BT22
KOiK03842
OMAiPLKVLWQ
OrthoDBi816895at2759
PhylomeDBiQ9BT22
TreeFamiTF314121

Enzyme and pathway databases

UniPathwayiUPA00378
BRENDAi2.4.1.142 2681
ReactomeiR-HSA-446193 Biosynthesis of the N-glycan precursor (dolichol lipid-linked oligosaccharide, LLO) and transfer to a nascent protein
R-HSA-4549380 Defective ALG1 causes ALG1-CDG (CDG-1k)

Miscellaneous databases

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

More...
ChiTaRSi
ALG1 human

The Gene Wiki collection of pages on human genes and proteins

More...
GeneWikii
ALG1

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

More...
GenomeRNAii
56052
PharosiQ9BT22

Protein Ontology

More...
PROi
PR:Q9BT22

The Stanford Online Universal Resource for Clones and ESTs

More...
SOURCEi
Search...

Gene expression databases

BgeeiENSG00000033011 Expressed in 128 organ(s), highest expression level in right adrenal gland
ExpressionAtlasiQ9BT22 baseline and differential
GenevisibleiQ9BT22 HS

Family and domain databases

InterProiView protein in InterPro
IPR026051 ALG1-like
IPR001296 Glyco_trans_1
PANTHERiPTHR13036 PTHR13036, 1 hit
PfamiView protein in Pfam
PF00534 Glycos_transf_1, 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 nameiALG1_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: Q9BT22
Secondary accession number(s): B4DP08
, Q6UVZ9, Q8N5Y4, Q9P2Y2
<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: August 30, 2005
Last sequence update: August 30, 2005
Last modified: October 16, 2019
This is version 168 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. SIMILARITY comments
    Index of protein domains and families
  2. PATHWAY comments
    Index of metabolic and biosynthesis pathways
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. Human chromosome 16
    Human chromosome 16: entries, gene names and cross-references to MIM
  6. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
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