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Aliases for ALG1 Gene

Aliases for ALG1 Gene

  • ALG1, Chitobiosyldiphosphodolichol Beta-Mannosyltransferase 2 3 5
  • Asparagine-Linked Glycosylation 1 Homolog (Yeast, Beta-1,4-Mannosyltransferase) 2 3
  • GDP-Mannose-Dolichol Diphosphochitobiose Mannosyltransferase 3 4
  • Asparagine-Linked Glycosylation Protein 1 Homolog 3 4
  • GDP-Man:GlcNAc2-PP-Dolichol Mannosyltransferase 3 4
  • Beta-1,4-Mannosyltransferase 3 4
  • Mannosyltransferase-1 3 4
  • EC 2.4.1.142 4 63
  • HMat-1 3 4
  • HMAT1 3 4
  • HMT1 3 4
  • MT-1 3 4
  • Asparagine-Linked Glycosylation 1, Beta-1,4-Mannosyltransferase Homolog (S. Cerevisiae) 2
  • Asparagine-Linked Glycosylation 1, Beta-1,4-Mannosyltransferase Homolog 3
  • Beta-1,4 Mannosyltransferase 3
  • CDG1K 3
  • HMT-1 3
  • Mat-1 3

External Ids for ALG1 Gene

Previous GeneCards Identifiers for ALG1 Gene

  • GC16P005122
  • GC16P005061
  • GC16P005121

Summaries for ALG1 Gene

Entrez Gene Summary for ALG1 Gene

  • The enzyme encoded by this gene catalyzes the first mannosylation step in the biosynthesis of lipid-linked oligosaccharides. This gene is mutated in congenital disorder of glycosylation type Ik. [provided by RefSeq, Dec 2008]

GeneCards Summary for ALG1 Gene

ALG1 (ALG1, Chitobiosyldiphosphodolichol Beta-Mannosyltransferase) is a Protein Coding gene. Diseases associated with ALG1 include congenital disorder of glycosylation, type ik and alg1-congenital disorder of glycosylation. Among its related pathways are Metabolism and Transport to the Golgi and subsequent modification. GO annotations related to this gene include transferase activity, transferring glycosyl groups and chitobiosyldiphosphodolichol beta-mannosyltransferase activity. An important paralog of this gene is ALG1L.

UniProtKB/Swiss-Prot for ALG1 Gene

  • Participates in the formation of the lipid-linked precursor oligosaccharide for N-glycosylation. Involved in assembling the dolichol-pyrophosphate-GlcNAc(2)-Man(5) intermediate on the cytoplasmic surface of the ER.

Gene Wiki entry for ALG1 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for ALG1 Gene

Genomics for ALG1 Gene

Regulatory Elements for ALG1 Gene

Promoters for ALG1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around ALG1 on UCSC Golden Path with GeneCards custom track

Genomic Location for ALG1 Gene

Chromosome:
16
Start:
5,033,960 bp from pter
End:
5,087,379 bp from pter
Size:
53,420 bases
Orientation:
Plus strand

Genomic View for ALG1 Gene

Genes around ALG1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
ALG1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for ALG1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for ALG1 Gene

Proteins for ALG1 Gene

  • Protein details for ALG1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9BT22-ALG1_HUMAN
    Recommended name:
    Chitobiosyldiphosphodolichol beta-mannosyltransferase
    Protein Accession:
    Q9BT22
    Secondary Accessions:
    • B4DP08
    • Q6UVZ9
    • Q8N5Y4
    • Q9P2Y2

    Protein attributes for ALG1 Gene

    Size:
    464 amino acids
    Molecular mass:
    52518 Da
    Quaternary structure:
    No Data Available
    SequenceCaution:
    • Sequence=AAQ89432.1; Type=Erroneous initiation; Evidence={ECO:0000305};

    Alternative splice isoforms for ALG1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for ALG1 Gene

Proteomics data for ALG1 Gene at MOPED

Selected DME Specific Peptides for ALG1 Gene

Post-translational modifications for ALG1 Gene

  • Ubiquitination at Lys 223 and Lys 236
  • Modification sites at PhosphoSitePlus

Other Protein References for ALG1 Gene

Antibody Products

Domains & Families for ALG1 Gene

Gene Families for ALG1 Gene

Protein Domains for ALG1 Gene

InterPro:
Blocks:
ProtoNet:

Graphical View of Domain Structure for InterPro Entry

Q9BT22

UniProtKB/Swiss-Prot:

ALG1_HUMAN :
  • Belongs to the glycosyltransferase group 1 family. Glycosyltransferase 33 subfamily.
Family:
  • Belongs to the glycosyltransferase group 1 family. Glycosyltransferase 33 subfamily.
genes like me logo Genes that share domains with ALG1: view

Function for ALG1 Gene

Molecular function for ALG1 Gene

UniProtKB/Swiss-Prot CatalyticActivity:
GDP-mannose + chitobiosyldiphosphodolichol = GDP + beta-1,4-D-mannosylchitobiosyldiphosphodolichol.
UniProtKB/Swiss-Prot Function:
Participates in the formation of the lipid-linked precursor oligosaccharide for N-glycosylation. Involved in assembling the dolichol-pyrophosphate-GlcNAc(2)-Man(5) intermediate on the cytoplasmic surface of the ER.

Enzyme Numbers (IUBMB) for ALG1 Gene

genes like me logo Genes that share phenotypes with ALG1: view

Human Phenotype Ontology for ALG1 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Model Products

miRNA for ALG1 Gene

miRTarBase miRNAs that target ALG1

No data available for Gene Ontology (GO) - Molecular Function , Animal Models , Transcription Factor Targets and HOMER Transcription for ALG1 Gene

Localization for ALG1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for ALG1 Gene

Endoplasmic reticulum membrane; Single-pass type II membrane protein.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for ALG1 Gene COMPARTMENTS Subcellular localization image for ALG1 gene
Compartment Confidence
endoplasmic reticulum 5
plasma membrane 2
extracellular 1
golgi apparatus 1
lysosome 1
peroxisome 1
vacuole 1

Gene Ontology (GO) - Cellular Components for ALG1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0016020 membrane IDA 19946888
genes like me logo Genes that share ontologies with ALG1: view

Pathways & Interactions for ALG1 Gene

genes like me logo Genes that share pathways with ALG1: view

UniProtKB/Swiss-Prot Q9BT22-ALG1_HUMAN

  • Pathway: Protein modification; protein glycosylation.

Gene Ontology (GO) - Biological Process for ALG1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006486 protein glycosylation IEA,TAS --
GO:0008152 metabolic process IEA --
GO:0043687 post-translational protein modification TAS --
genes like me logo Genes that share ontologies with ALG1: view

No data available for SIGNOR curated interactions for ALG1 Gene

Drugs & Compounds for ALG1 Gene

(2) Drugs for ALG1 Gene - From: Novoseek and HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Guanosine diphosphate Experimental Pharma 0

(7) Additional Compounds for ALG1 Gene - From: HMDB and Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
(N-Acetylglucosaminyl)2-diphosphodolichol
  • Chitobiosyldiphosphodolichol
  • N,N'-Diacetylchitobiosyldiphosphodolichol
  • [N-acetyl-b-D-glucosaminyl-(1->4)- N-acetyl-D-glucosaminyl]diphosphodolichol
  • [N-acetyl-beta-D-glucosaminyl-(1->4)- N-acetyl-D-glucosaminyl]diphosphodolichol
  • [N-acetyl-beta-delta-glucosaminyl-(1->4)- N-acetyl-delta-glucosaminyl]diphosphodolichol
Beta-1,4-D-Mannosylchitobiosyldiphosphodolichol
  • b-(1->4)-D-Mannosylchitobiosyldiphosphodolichol
  • b-1,4-D-Mannosylchitobiosyldiphosphodolichol
  • beta-(1->4)-D-Mannosylchitobiosyldiphosphodolichol
  • beta-(1->4)-delta-Mannosylchitobiosyldiphosphodolichol
  • beta-1,4-delta-Mannosylchitobiosyldiphosphodolichol
Guanosine diphosphate mannose
  • GDP Mannose
  • GDP-D-Mannose
  • GDP-Glucose
  • GDP-Mannose
  • Guanosine Diphosphate Mannose
3123-67-9
N,N'-Diacetylchitobiosyldiphosphodolichol
  • Chitobiosyldiphosphodolichol
  • N,N'-Diacetylchitobiosyldiphosphodolichol
genes like me logo Genes that share compounds with ALG1: view

Transcripts for ALG1 Gene

Unigene Clusters for ALG1 Gene

ALG1, chitobiosyldiphosphodolichol beta-mannosyltransferase:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for ALG1 Gene

ExUns: 1 ^ 2 ^ 3a · 3b ^ 4 ^ 5a · 5b · 5c ^ 6a · 6b ^ 7 ^ 8a · 8b ^ 9 ^ 10 ^ 11
SP1: - - - -
SP2: -
SP3: - -
SP4: - - - - -
SP5: - - -
SP6: - -

Relevant External Links for ALG1 Gene

GeneLoc Exon Structure for
ALG1
ECgene alternative splicing isoforms for
ALG1

Expression for ALG1 Gene

mRNA expression in normal human tissues for ALG1 Gene

Protein differential expression in normal tissues from HIPED for ALG1 Gene

This gene is overexpressed in Peripheral blood mononuclear cells (10.4), Adrenal (9.1), and Bone (7.9).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MOPED, and MaxQB for ALG1 Gene



SOURCE GeneReport for Unigene cluster for ALG1 Gene Hs.592086

genes like me logo Genes that share expression patterns with ALG1: view

Protein tissue co-expression partners for ALG1 Gene

- Elite partner

Primer Products

In Situ Assay Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues and mRNA Expression by UniProt/SwissProt for ALG1 Gene

Orthologs for ALG1 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for ALG1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia ALG1 36
  • 99 (a)
OneToOne
ALG1 35
  • 99.07 (n)
  • 98.92 (a)
cow
(Bos Taurus)
Mammalia ALG1 36
  • 82 (a)
OneToMany
ALG1 35
  • 84.05 (n)
  • 83.07 (a)
dog
(Canis familiaris)
Mammalia ALG1 35
  • 84.2 (n)
  • 81.68 (a)
-- 36
  • 82 (a)
OneToMany
mouse
(Mus musculus)
Mammalia Alg1 16
Alg1 35
  • 82.28 (n)
  • 80.48 (a)
Alg1 36
  • 77 (a)
OneToMany
oppossum
(Monodelphis domestica)
Mammalia -- 36
  • 71 (a)
OneToMany
chicken
(Gallus gallus)
Aves ALG1 35
  • 65.83 (n)
  • 66.29 (a)
-- 36
  • 63 (a)
OneToMany
lizard
(Anolis carolinensis)
Reptilia -- 36
  • 62 (a)
OneToMany
tropical clawed frog
(Silurana tropicalis)
Amphibia alg1 35
  • 62.89 (n)
  • 63.88 (a)
zebrafish
(Danio rerio)
Actinopterygii -- 35
alg1 35
  • 62.72 (n)
  • 62.64 (a)
alg1 36
  • 57 (a)
OneToMany
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP003551 35
  • 51.14 (n)
  • 46.35 (a)
fruit fly
(Drosophila melanogaster)
Insecta CG18012 36
  • 44 (a)
OneToMany
CG18012 35
  • 54.54 (n)
  • 46.95 (a)
worm
(Caenorhabditis elegans)
Secernentea T26A5.4 36
  • 36 (a)
OneToMany
T26A5.4 35
  • 47.43 (n)
  • 44.5 (a)
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_ADL338C 35
  • 46.46 (n)
  • 37.34 (a)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes ALG1 35
  • 44.11 (n)
  • 39.6 (a)
ALG1 36
  • 35 (a)
OneToMany
ALG1 38
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0B09405g 35
  • 46.24 (n)
  • 40 (a)
Alicante grape
(Vitis vinifera)
eudicotyledons Vvi.5786 35
thale cress
(Arabidopsis thaliana)
eudicotyledons AT1G16570 35
  • 48.17 (n)
  • 45.2 (a)
rice
(Oryza sativa)
Liliopsida Os03g0180700 35
  • 50.35 (n)
  • 45.01 (a)
bread mold
(Neurospora crassa)
Ascomycetes NCU07261 35
  • 49.7 (n)
  • 44.73 (a)
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes alg1 35
  • 46.79 (n)
  • 41.37 (a)
Species with no ortholog for ALG1:
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • platypus (Ornithorhynchus anatinus)
  • rainbow trout (Oncorhynchus mykiss)
  • rat (Rattus norvegicus)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for ALG1 Gene

ENSEMBL:
Gene Tree for ALG1 (if available)
TreeFam:
Gene Tree for ALG1 (if available)

Paralogs for ALG1 Gene

Paralogs for ALG1 Gene

(3) SIMAP similar genes for ALG1 Gene using alignment to 5 proteins:

genes like me logo Genes that share paralogs with ALG1: view

Variants for ALG1 Gene

Sequence variations from dbSNP and Humsavar for ALG1 Gene

SNP ID Clin Chr 16 pos Sequence Context AA Info Type
rs121908340 Congenital disorder of glycosylation 1K (CDG1K) 5,075,447(+) GGAAG(C/G)AAGCT nc-transcript-variant, reference, missense
rs28939378 Congenital disorder of glycosylation 1K (CDG1K) 5,078,789(+) GCGGT(C/T)GGCCT nc-transcript-variant, reference, missense
VAR_023366 Congenital disorder of glycosylation 1K (CDG1K)
VAR_023367 -
rs17849848 - 5,078,816(+) TGGGA(A/G)CGGGC nc-transcript-variant, reference, missense

Structural Variations from Database of Genomic Variants (DGV) for ALG1 Gene

Variant ID Type Subtype PubMed ID
esv2422516 CNV Deletion 17116639
esv25186 CNV Gain 19812545
nsv905254 CNV Loss 21882294
dgv795e1 CNV Complex 17122850
nsv457360 CNV Loss 19166990
esv34300 CNV Gain 17911159
dgv796e1 CNV Complex 17122850
nsv817715 CNV Gain 17921354
nsv428318 CNV Gain 18775914
nsv1722 CNV Loss 18451855
nsv482188 CNV Gain 20164927
nsv482189 CNV Gain 20164927

Variation tolerance for ALG1 Gene

Residual Variation Intolerance Score: 98% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 6.07; 75.28% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for ALG1 Gene

HapMap Linkage Disequilibrium report
ALG1
Human Gene Mutation Database (HGMD)
ALG1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for ALG1 Gene

Disorders for ALG1 Gene

MalaCards: The human disease database

(7) MalaCards diseases for ALG1 Gene - From: OMIM, ClinVar, GeneTests, Swiss-Prot, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
congenital disorder of glycosylation, type ik
  • cdg1k
alg1-congenital disorder of glycosylation
  • carbohydrate deficient glycoprotein syndrome type ik
shaheen syndrome
  • shns
spinocerebellar ataxia 40
  • spinocerebellar ataxia type 40
muscular dystrophy-dystroglycanopathy , type a, 9
  • muscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies a9
- elite association - COSMIC cancer census association via MalaCards
Search ALG1 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

ALG1_HUMAN
  • Congenital disorder of glycosylation 1K (CDG1K) [MIM:608540]: 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. {ECO:0000269 PubMed:14709599, ECO:0000269 PubMed:14973778, ECO:0000269 PubMed:14973782}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for ALG1

Genetic Association Database (GAD)
ALG1
Human Genome Epidemiology (HuGE) Navigator
ALG1
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
ALG1
genes like me logo Genes that share disorders with ALG1: view

No data available for Genatlas for ALG1 Gene

Publications for ALG1 Gene

  1. Cloning of the human cDNA which can complement the defect of the yeast mannosyltransferase I-deficient mutant alg 1. (PMID: 10704531) Takahashi T. … Nishikawa Y. (Glycobiology 2000) 2 3 4 23 67
  2. Deficiency of the first mannosylation step in the N-glycosylation pathway causes congenital disorder of glycosylation type Ik. (PMID: 14709599) Grubenmann C.E. … Hennet T. (Hum. Mol. Genet. 2004) 3 23
  3. Congenital disorder of glycosylation type Ik (CDG-Ik): a defect of mannosyltransferase I. (PMID: 14973782) Kranz C. … Marquardt T. (Am. J. Hum. Genet. 2004) 3 23
  4. hnRNPA1 couples nuclear export and translation of specific mRNAs downstream of FGF-2/S6K2 signalling. (PMID: 25324306) Roy R. … Pardo O.E. (Nucleic Acids Res. 2014) 3
  5. ALG1-CDG: a new case with early fatal outcome. (PMID: 24157261) Rohlfing A.K. … Marquardt T. (Gene 2014) 3

Products for ALG1 Gene

Sources for ALG1 Gene

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