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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 56
  • 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
  • Chitobiosyldiphosphodolichol Beta-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 of proteins and Transport to the Golgi and subsequent modification. Gene Ontology (GO) annotations related to this gene include transferase activity, transferring glycosyl groups and chitobiosyldiphosphodolichol beta-mannosyltransferase activity. An important paralog of this gene is ALG1L2.

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

Additional gene information for ALG1 Gene

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

Genomics for ALG1 Gene

GeneHancer (GH) Regulatory Elements for ALG1 Gene

Promoters and enhancers for ALG1 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH16I005032 Promoter/Enhancer 2.5 EPDnew Ensembl ENCODE dbSUPER 550.8 +1.1 1088 5 FOXA2 MLX ARNT ZFP64 ARID4B SIN3A FEZF1 DMAP1 YY1 ZNF766 NAGPA ALG1 ZNF500 C16orf89 CDIP1 PPL NAGPA-AS1
GH16I004692 Promoter/Enhancer 2.2 EPDnew Ensembl ENCODE dbSUPER 10.5 -339.7 -339737 4.3 HDGF PKNOX1 SMAD1 ATF1 ARNT ZNF493 ARID4B SIN3A DMAP1 ZNF48 NUDT16L1 ZNF500 MGRN1 EEF2KMT CREBBP UBN1 ANKS3 ALG1 GLYR1 HMOX2
GH16I004845 Promoter/Enhancer 2 EPDnew Ensembl ENCODE 10.5 -186.4 -186373 3.2 HDGF PKNOX1 CLOCK FOXA2 MLX ZFP64 ARID4B SIN3A DMAP1 YY1 UBN1 GLYR1 SEPT12 ROGDI LOC102724927 ALG1 ENSG00000267077 SMIM22 PIR33451
GH16I004211 Enhancer 1.6 FANTOM5 Ensembl ENCODE dbSUPER 11.6 -816.6 -816616 11 HDGF PKNOX1 ATF1 FOXA2 YBX1 FEZF1 ZNF121 GLIS2 ATF7 FOS SRL ZNF597 ZNF200 UBN1 ZNF263 ALG1 ADCY9 CREBBP ZNF500 LINC01569
GH16I004252 Promoter/Enhancer 1.8 Ensembl ENCODE dbSUPER 9.9 -780.3 -780311 1.7 HDGF PKNOX1 FOXA2 ARNT ARID4B SIN3A DMAP1 ZNF2 YY1 POLR2B LINC01569 LOC105371063 CREBBP ZNF500 ZNF263 ENSG00000261938 ZNF597 ZNF75A UBN1 ANKS3
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around ALG1 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the ALG1 gene promoter:

Genomic Locations for ALG1 Gene

Genomic Locations for ALG1 Gene
chr16:5,033,960-5,087,379
(GRCh38/hg38)
Size:
53,420 bases
Orientation:
Plus strand
chr16:5,083,703-5,137,380
(GRCh37/hg19)

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

Selected DME Specific Peptides for ALG1 Gene

Q9BT22:
  • DEDFSILL
  • PALLVSST

Post-translational modifications for ALG1 Gene

  • Ubiquitination at Lys223 and Lys236

Domains & Families for ALG1 Gene

Gene Families for ALG1 Gene

HGNC:
Human Protein Atlas (HPA):
  • Disease related genes
  • Enzymes
  • Potential drug targets
  • Predicted intracellular proteins
  • Predicted membrane proteins
  • Predicted secreted proteins

Protein Domains for ALG1 Gene

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

Phenotypes From GWAS Catalog for ALG1 Gene

Gene Ontology (GO) - Molecular Function for ALG1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000030 mannosyltransferase activity TAS 10704531
GO:0004578 chitobiosyldiphosphodolichol beta-mannosyltransferase activity TAS --
GO:0016740 transferase activity IEA --
GO:0016757 transferase activity, transferring glycosyl groups IEA --
genes like me logo Genes that share ontologies with ALG1: view
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 Models for ALG1 Gene

MGI Knock Outs for ALG1:
  • Alg1 tm1b(KOMP)Wtsi

Animal Model Products

CRISPR Products

miRNA for ALG1 Gene

miRTarBase miRNAs that target ALG1

Inhibitory RNA Products

No data available for 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
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for ALG1 gene
Compartment Confidence
endoplasmic reticulum 5
plasma membrane 2
extracellular 1
peroxisome 1
lysosome 1
golgi apparatus 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Endoplasmic reticulum (2)
  • Nucleoli fibrillar center (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for ALG1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005783 endoplasmic reticulum TAS 10704531
GO:0005789 endoplasmic reticulum membrane TAS --
GO:0016020 membrane IEA,HDA 19946888
GO:0016021 integral component of membrane IEA --
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 TAS,IEA --
GO:0006488 dolichol-linked oligosaccharide biosynthetic process TAS --
GO:0097502 mannosylation IEA --
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

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

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

(6) 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:

CRISPR Products

Inhibitory RNA Products

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 from GTEx, Illumina, BioGPS, and CGAP SAGE 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, MaxQB, and MOPED for ALG1 Gene



Protein tissue co-expression partners for ALG1 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of ALG1 Gene:

ALG1

SOURCE GeneReport for Unigene cluster for ALG1 Gene:

Hs.592086

Evidence on tissue expression from TISSUES for ALG1 Gene

  • Nervous system(4.8)

Phenotype-based relationships between genes and organs from Gene ORGANizer for ALG1 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • digestive
  • endocrine
  • immune
  • integumentary
  • lymphatic
  • nervous
  • reproductive
  • skeletal muscle
  • skeleton
  • urinary
Regions:
Head and neck:
  • brain
  • chin
  • ear
  • eye
  • face
  • head
  • jaw
  • lip
  • mandible
  • maxilla
  • mouth
  • pituitary gland
  • skull
Thorax:
  • breast
  • heart
  • heart valve
Abdomen:
  • kidney
  • liver
  • spleen
Pelvis:
  • ovary
  • penis
  • placenta
  • prostate
  • testicle
  • ureter
  • urinary bladder
  • uterus
  • vagina
  • vulva
Limb:
  • ankle
  • digit
  • elbow
  • finger
  • foot
  • hand
  • hip
  • knee
  • lower limb
  • shoulder
  • toe
  • upper limb
  • wrist
General:
  • blood
  • blood vessel
  • hair
  • peripheral nerve
  • peripheral nervous system
  • skin
genes like me logo Genes that share expression patterns with ALG1: view

Primer 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 33 34
  • 99.07 (n)
dog
(Canis familiaris)
Mammalia ALG1 33
  • 84.2 (n)
-- 34
  • 82 (a)
OneToMany
cow
(Bos Taurus)
Mammalia ALG1 33 34
  • 84.05 (n)
mouse
(Mus musculus)
Mammalia Alg1 33 16 34
  • 82.28 (n)
oppossum
(Monodelphis domestica)
Mammalia -- 34
  • 71 (a)
OneToMany
chicken
(Gallus gallus)
Aves ALG1 33
  • 65.83 (n)
-- 34
  • 63 (a)
OneToMany
lizard
(Anolis carolinensis)
Reptilia -- 34
  • 62 (a)
OneToMany
tropical clawed frog
(Silurana tropicalis)
Amphibia alg1 33
  • 62.89 (n)
zebrafish
(Danio rerio)
Actinopterygii alg1 33 34
  • 62.72 (n)
-- 33
fruit fly
(Drosophila melanogaster)
Insecta CG18012 33 34
  • 54.54 (n)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP003551 33
  • 51.14 (n)
worm
(Caenorhabditis elegans)
Secernentea T26A5.4 33 34
  • 47.43 (n)
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_ADL338C 33
  • 46.46 (n)
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0B09405g 33
  • 46.24 (n)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes ALG1 33 34 36
  • 44.11 (n)
thale cress
(Arabidopsis thaliana)
eudicotyledons AT1G16570 33
  • 48.17 (n)
Alicante grape
(Vitis vinifera)
eudicotyledons Vvi.5786 33
rice
(Oryza sativa)
Liliopsida Os03g0180700 33
  • 50.35 (n)
bread mold
(Neurospora crassa)
Ascomycetes NCU07261 33
  • 49.7 (n)
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes alg1 33
  • 46.79 (n)
Species where no ortholog for ALG1 was found in the sources mined by GeneCards:
  • 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:

Pseudogenes.org Pseudogenes for ALG1 Gene

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 Variation AA Info Type
rs1051082443 uncertain-significance, Congenital disorder of glycosylation type 1K 5,071,991(+) C/T 5_prime_UTR_variant, coding_sequence_variant, genic_upstream_transcript_variant, missense_variant, non_coding_transcript_variant, upstream_transcript_variant
rs112668461 benign, likely-benign, not specified, not provided 5,077,459(+) T/G coding_sequence_variant, missense_variant, non_coding_transcript_variant
rs121908340 pathogenic, Congenital disorder of glycosylation type 1K, Congenital disorder of glycosylation 1K (CDG1K) [MIM:608540] 5,075,447(+) C/G coding_sequence_variant, missense_variant, non_coding_transcript_variant
rs12921879 benign, not specified, Congenital disorder of glycosylation type 1K 5,078,856(+) G/C coding_sequence_variant, non_coding_transcript_variant, synonymous_variant
rs151173406 pathogenic, Congenital disorder of glycosylation type 1K, Congenital disorder of glycosylation 1K (CDG1K) [MIM:608540] 5,078,842(+) C/T coding_sequence_variant, missense_variant, non_coding_transcript_variant

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

Variant ID Type Subtype PubMed ID
esv3637713 CNV gain 21293372
esv3637714 CNV gain 21293372
esv3637718 CNV loss 21293372
nsv1038475 CNV gain 25217958
nsv1039432 CNV loss 25217958
nsv1042612 CNV loss 25217958
nsv1046986 CNV gain 25217958
nsv1052766 CNV loss 25217958
nsv1722 CNV deletion 18451855
nsv428318 CNV gain 18775914
nsv457360 CNV loss 19166990
nsv482188 CNV gain 20164927
nsv482189 CNV gain 20164927
nsv571303 CNV loss 21841781
nsv571304 CNV loss 21841781
nsv817715 CNV gain 17921354
nsv952909 CNV deletion 24416366
nsv977106 CNV duplication 23825009
esv3581945 CNV loss 25503493
esv34300 CNV gain 17911159
esv2760069 CNV gain+loss 17122850
esv25186 CNV gain 19812545
esv2422516 CNV deletion 17116639

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)

Additional Variant Information for ALG1 Gene

Human Gene Mutation Database (HGMD)
ALG1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
ALG1

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

Disorders for ALG1 Gene

MalaCards: The human disease database

(4) MalaCards diseases for ALG1 Gene - From: HGMD, OMIM, ClinVar, GTR, Orphanet, Swiss-Prot, DISEASES, and GeneCards

- 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 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. {ECO:0000269 PubMed:14709599, ECO:0000269 PubMed:14973778, ECO:0000269 PubMed:14973782, ECO:0000269 PubMed:26931382}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Additional Disease Information for ALG1

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

No data available for Genatlas for ALG1 Gene

Publications for ALG1 Gene

  1. Congenital disorder of glycosylation type Ik (CDG-Ik): a defect of mannosyltransferase I. (PMID: 14973782) Kranz C … Marquardt T (American journal of human genetics 2004) 2 3 4 22 58
  2. 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 22 58
  3. Deficiency of the first mannosylation step in the N-glycosylation pathway causes congenital disorder of glycosylation type Ik. (PMID: 14709599) Grubenmann CE … Hennet T (Human molecular genetics 2004) 3 4 22 58
  4. ALG1-CDG: Clinical and Molecular Characterization of 39 Unreported Patients. (PMID: 26931382) Ng BG … Freeze HH (Human mutation 2016) 3 4 58
  5. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose JE … Uhl GR (Molecular medicine (Cambridge, Mass.) 2010) 3 44 58

Products for ALG1 Gene

Sources for ALG1 Gene

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