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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 58
  • 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 N-Glycan biosynthesis 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 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

Regulatory Elements for ALG1 Gene

Enhancers for ALG1 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH16H004211 1.8 FANTOM5 Ensembl ENCODE dbSUPER 11.6 -816.6 -816617 11 HDGF PKNOX1 ATF1 FOXA2 YBX1 FEZF1 ZNF121 GLIS2 ATF7 FOS ZNF597 CREBBP SRL ZNF500 ZNF263 ZNF200 ZNF174 ALG1 ADCY9 LINC01569
GH16H004666 0.7 dbSUPER 20.4 -366.4 -366403 1 SMARCA5 ZNF146 ZNF521 MTA2 ZNF837 INSM2 YBX1 ZNF311 RAD21 ZSCAN23 ZNF500 MGRN1 ALG1 EEF2KMT ANKS3 MIR6769A ENSG00000278700
GH16H004252 1.4 ENCODE dbSUPER 9.9 -780.3 -780312 1 HDGF PKNOX1 ARNT ARID4B SIN3A DMAP1 ZNF2 YY1 ZNF766 CBX5 CREBBP ZNF500 ZNF263 ENSG00000261938 ZNF597 UBN1 ZNF75A LINC01569 ANKS3 CDIP1
GH16H004692 1.3 ENCODE dbSUPER 10.5 -339.7 -339738 4 HDGF PKNOX1 ATF1 ARNT ZNF493 ARID4B SIN3A DMAP1 YY1 ELK1 ZNF500 CREBBP MGRN1 EEF2KMT UBN1 ANKS3 ALG1 GLYR1 HMOX2 NUDT16L1
GH16H004845 1.1 ENCODE 10.5 -186.4 -186373 3 HDGF PKNOX1 MLX ZFP64 ARID4B SIN3A DMAP1 YY1 ZNF207 ZNF143 SEPT12 ROGDI LOC102724927 ALG1 UBN1 ENSG00000267077 SMIM22 GLYR1 PIR33451
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around ALG1 on UCSC Golden Path with GeneCards custom track

Promoters for ALG1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000082894 -160 1201 FOXA2 MLX ARNT ZFP64 ARID4B SIN3A FEZF1 DMAP1 YY1 ZNF766

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

Selected DME Specific Peptides for ALG1 Gene

Q9BT22:
  • DEDFSILL
  • PALLVSST

Post-translational modifications for ALG1 Gene

  • Ubiquitination at Lys223 and Lys236
  • Modification sites at PhosphoSitePlus

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

Clone Products

  • Applied Biological Materials Clones for ALG1
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

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 IDA,IEA 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 IEA,TAS --
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

Clone Products

  • Applied Biological Materials Clones for ALG1
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

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
Organs:
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 34 33
  • 99.07 (n)
OneToOne
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 16 34 33
  • 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 Sequence Context AA Info Type
rs121908340 Pathogenic, Congenital disorder of glycosylation 1K (CDG1K) [MIM:608540] 5,075,447(+) GGAAG(C/G)AAGCT nc-transcript-variant, reference, missense
rs151173406 Pathogenic, Congenital disorder of glycosylation 1K (CDG1K) [MIM:608540] 5,078,842(+) GTGAG(C/T)GGCCA nc-transcript-variant, reference, missense
rs16835020 Congenital disorder of glycosylation 1K (CDG1K) [MIM:608540] 5,084,798(-) CTTCC(A/G)GAACT nc-transcript-variant, reference, missense, utr-variant-3-prime
rs200605408 Congenital disorder of glycosylation 1K (CDG1K) [MIM:608540] 5,072,954(+) AGACT(C/T)CAAAC nc-transcript-variant, reference, missense, utr-variant-5-prime
rs201337379 Congenital disorder of glycosylation 1K (CDG1K) [MIM:608540] 5,072,963(+) ACCCC(A/C/T)TGATG nc-transcript-variant, reference, missense, utr-variant-5-prime

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
esv2760069 CNV gain+loss 17122850
esv34300 CNV gain 17911159
esv3581945 CNV loss 25503493
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

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

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

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

Disorder Aliases PubMed IDs
congenital disorder of glycosylation, type ik
  • carbohydrate deficient glycoprotein syndrome type ik
alg1-congenital disorder of glycosylation
  • carbohydrate deficient glycoprotein syndrome type ik
walker-warburg syndrome
  • cerebroocular dysplasia-muscular dystrophy syndrome
- 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.

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. 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 60
  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 60
  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 60
  4. ALG1-CDG: Clinical and Molecular Characterization of 39 Unreported Patients. (PMID: 26931382) Ng BG … Freeze HH (Human mutation 2016) 3 4 60
  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 45 60

Products for ALG1 Gene

Sources for ALG1 Gene

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