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Aliases for ALG3 Gene

Aliases for ALG3 Gene

  • ALG3, Alpha-1,3- Mannosyltransferase 2 3 5
  • Asparagine-Linked Glycosylation 3 Homolog (Yeast, Alpha-1,3-Mannosyltransferase) 2 3
  • Dolichyl-Phosphate-Mannose--Glycolipid Alpha-Mannosyltransferase 3 4
  • Dol-P-Man:Man(5)GlcNAc(2)-PP-Dol Alpha-1,3-Mannosyltransferase 2 3
  • Dolichyl-P-Man:Man(5)GlcNAc(2)-PP-Dolichyl Mannosyltransferase 3 4
  • Carbohydrate Deficient Glycoprotein Syndrome Type IV 2 3
  • Dol-P-Man-Dependent Alpha(1-3)-Mannosyltransferase 3 4
  • Asparagine-Linked Glycosylation Protein 3 Homolog 3 4
  • Not56-Like Protein 3 4
  • NOT56L 3 4
  • Not 3 4
  • Asparagine-Linked Glycosylation 3, Alpha-1,3- Mannosyltransferase Homolog (S. Cerevisiae) 2
  • Asparagine-Linked Glycosylation 3 Homolog (S. Cerevisiae, Alpha-1,3-Mannosyltransferase) 3
  • Asparagine-Linked Glycosylation 3, Alpha-1,3- Mannosyltransferase Homolog 3
  • Dol-P-Man Dependent Alpha-1,3- Mannosyltransferase 2
  • EC 2.4.1.130 56
  • EC 2.4.1.258 4
  • D16Ertd36e 3
  • CDG1D 3
  • CDGS4 3
  • CDGS6 3
  • Not56 3

External Ids for ALG3 Gene

Previous GeneCards Identifiers for ALG3 Gene

  • GC03M185281
  • GC03M185442
  • GC03M183960
  • GC03M181367

Summaries for ALG3 Gene

Entrez Gene Summary for ALG3 Gene

  • This gene encodes a member of the ALG3 family. The encoded protein catalyses the addition of the first dol-P-Man derived mannose in an alpha 1,3 linkage to Man5GlcNAc2-PP-Dol. Defects in this gene have been associated with congenital disorder of glycosylation type Id (CDG-Id) characterized by abnormal N-glycosylation. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2008]

GeneCards Summary for ALG3 Gene

ALG3 (ALG3, Alpha-1,3- Mannosyltransferase) is a Protein Coding gene. Diseases associated with ALG3 include Congenital Disorder Of Glycosylation, Type Id and Congenital Disorder Of Glycosylation, Type In. 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 hexosyl groups and dol-P-Man:Man(5)GlcNAc(2)-PP-Dol alpha-1,3-mannosyltransferase activity.

UniProtKB/Swiss-Prot for ALG3 Gene

  • Adds the first Dol-P-Man derived mannose in an alpha-1,3 linkage to Man5GlcNAc2-PP-Dol.

Gene Wiki entry for ALG3 Gene

Additional gene information for ALG3 Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for ALG3 Gene

Genomics for ALG3 Gene

GeneHancer (GH) Regulatory Elements for ALG3 Gene

Promoters and enhancers for ALG3 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
GH03I184247 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE 550.8 +0.2 223 2.7 MLX ARNT ARID4B SIN3A DMAP1 ZNF2 YY1 POLR2B CBX5 ZNF213 ALG3 EEF1AKMT4-ECE2 EEF1AKMT4 ECE2 POLR2H RPS3P3 PARL VWA5B2 DVL3 EIF2B5
GH03I184171 Promoter/Enhancer 2.4 EPDnew Ensembl ENCODE dbSUPER 10.5 +74.4 74386 8 HDGF ARID4B NEUROD1 SIN3A DMAP1 YY1 POLR2B ZNF766 ZNF143 FOS AP2M1 VWA5B2 ABCF3 EIF2B5 DVL3 ALG3 ECE2 EEF1AKMT4-ECE2 EEF1AKMT4 MIR1224
GH03I184184 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE dbSUPER 10.8 +63.5 63451 3.6 HDGF PKNOX1 ARID4B SIN3A FEZF1 DMAP1 YY1 SLC30A9 POLR2B ZNF766 ABCF3 VWA5B2 POLR2H EIF2B5 ECE2 EEF1AKMT4-ECE2 EEF1AKMT4 ALG3 MIR1224 CAMK2N2
GH03I184154 Promoter/Enhancer 2.2 EPDnew Ensembl ENCODE dbSUPER 10.6 +93.2 93151 4.2 HDGF FOXA2 ARID4B SIN3A DMAP1 SLC30A9 ZNF121 GLIS2 ELK1 ZNF143 DVL3 EIF2B5 RPS3P3 POLR2H ALG3 EEF1AKMT4 EEF1AKMT4-ECE2 ECE2 ABCF3 CAMK2N2
GH03I184015 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE 9.7 +232.5 232546 3.6 HDGF PKNOX1 SMAD1 ARNT ARID4B SIN3A FEZF1 ZNF2 YY1 POLR2B ABCC5 YEATS2 HTR3C EIF2B5 AP2M1 ALG3 CAMK2N2 ECE2 EEF1AKMT4-ECE2 EEF1AKMT4
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around ALG3 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the ALG3 gene promoter:

Genomic Locations for ALG3 Gene

Genomic Locations for ALG3 Gene
chr3:184,242,301-184,249,548
(GRCh38/hg38)
Size:
7,248 bases
Orientation:
Minus strand
chr3:183,960,089-183,967,336
(GRCh37/hg19)

Genomic View for ALG3 Gene

Genes around ALG3 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
ALG3 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for ALG3 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for ALG3 Gene

Proteins for ALG3 Gene

  • Protein details for ALG3 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q92685-ALG3_HUMAN
    Recommended name:
    Dol-P-Man:Man(5)GlcNAc(2)-PP-Dol alpha-1,3-mannosyltransferase
    Protein Accession:
    Q92685
    Secondary Accessions:
    • A8JZZ6
    • Q9BT71

    Protein attributes for ALG3 Gene

    Size:
    438 amino acids
    Molecular mass:
    50126 Da
    Quaternary structure:
    No Data Available

    Alternative splice isoforms for ALG3 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for ALG3 Gene

Selected DME Specific Peptides for ALG3 Gene

Q92685:
  • VLRLFND
  • WTVNWRF
  • RSLHYQF
  • TGPLVYP

Post-translational modifications for ALG3 Gene

Domains & Families for ALG3 Gene

Gene Families for ALG3 Gene

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

Protein Domains for ALG3 Gene

InterPro:
Blocks:
ProtoNet:

Graphical View of Domain Structure for InterPro Entry

Q92685

UniProtKB/Swiss-Prot:

ALG3_HUMAN :
  • Belongs to the glycosyltransferase 58 family.
Family:
  • Belongs to the glycosyltransferase 58 family.
genes like me logo Genes that share domains with ALG3: view

Function for ALG3 Gene

Molecular function for ALG3 Gene

UniProtKB/Swiss-Prot CatalyticActivity:
Dolichyl beta-D-mannosyl phosphate + D-Man-alpha-(1->2)-D-Man-alpha-(1->2)-D-Man-alpha-(1->3)-(D-Man-alpha-(1->6))-D-Man-beta-(1->4)-D-GlcNAc-beta-(1->4)-D-GlcNAc-diphosphodolichol = D-Man-alpha-(1->2)-D-Man-alpha-(1->2)-D-Man-alpha-(1->3)-(D-Man-alpha-(1->3)-D-Man-alpha-(1->6))-D-Man-beta-(1->4)-D-GlcNAc-beta-(1->4)-D-GlcNAc-diphosphodolichol + dolichyl phosphate.
UniProtKB/Swiss-Prot Function:
Adds the first Dol-P-Man derived mannose in an alpha-1,3 linkage to Man5GlcNAc2-PP-Dol.

Enzyme Numbers (IUBMB) for ALG3 Gene

Gene Ontology (GO) - Molecular Function for ALG3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000033 alpha-1,3-mannosyltransferase activity TAS --
GO:0005515 protein binding IPI 25910212
GO:0016740 transferase activity IEA --
GO:0016757 transferase activity, transferring glycosyl groups IEA --
GO:0016758 transferase activity, transferring hexosyl groups IEA --
genes like me logo Genes that share ontologies with ALG3: view

Phenotypes for ALG3 Gene

genes like me logo Genes that share phenotypes with ALG3: view

Human Phenotype Ontology for ALG3 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Model Products

CRISPR Products

Inhibitory RNA Products

No data available for Phenotypes From GWAS Catalog , Animal Models , Transcription Factor Targets and HOMER Transcription for ALG3 Gene

Localization for ALG3 Gene

Subcellular locations from UniProtKB/Swiss-Prot for ALG3 Gene

Endoplasmic reticulum membrane; Multi-pass 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 ALG3 gene
Compartment Confidence
endoplasmic reticulum 5
golgi apparatus 3

Gene Ontology (GO) - Cellular Components for ALG3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005783 endoplasmic reticulum IEA --
GO:0005789 endoplasmic reticulum membrane TAS,IEA --
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with ALG3: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for ALG3 Gene

Pathways & Interactions for ALG3 Gene

genes like me logo Genes that share pathways with ALG3: view

UniProtKB/Swiss-Prot Q92685-ALG3_HUMAN

  • Pathway: Protein modification; protein glycosylation.

Gene Ontology (GO) - Biological Process for ALG3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006486 protein glycosylation IEA,NAS 10581255
GO:0006488 dolichol-linked oligosaccharide biosynthetic process TAS --
GO:0097502 mannosylation IEA --
genes like me logo Genes that share ontologies with ALG3: view

No data available for SIGNOR curated interactions for ALG3 Gene

Drugs & Compounds for ALG3 Gene

(1) Drugs for ALG3 Gene - From: HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
mannose Investigational Pharma 0

(3) Additional Compounds for ALG3 Gene - From: HMDB and Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
Dolichol-20
  • Dolichol
  • Dolichol (C100)
  • Dolichol 20
  • Dolichol phosphate
  • Dolichyl phosphate
2067-66-5
Dolichyl phosphate D-mannose
  • Dolichol phosphate mannose
  • Dolichyl D-mannosyl phosphate
  • Dolichyl phosphate D-mannose
  • DPM
908211-94-9
genes like me logo Genes that share compounds with ALG3: view

Transcripts for ALG3 Gene

Unigene Clusters for ALG3 Gene

ALG3, alpha-1,3- mannosyltransferase:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Alternative Splicing Database (ASD) splice patterns (SP) for ALG3 Gene

No ASD Table

Relevant External Links for ALG3 Gene

GeneLoc Exon Structure for
ALG3
ECgene alternative splicing isoforms for
ALG3

Expression for ALG3 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for ALG3 Gene

Protein differential expression in normal tissues from HIPED for ALG3 Gene

This gene is overexpressed in Liver (13.6), Islet of Langerhans (13.5), and Liver, secretome (9.7).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for ALG3 Gene



NURSA nuclear receptor signaling pathways regulating expression of ALG3 Gene:

ALG3

SOURCE GeneReport for Unigene cluster for ALG3 Gene:

Hs.478481

Evidence on tissue expression from TISSUES for ALG3 Gene

  • Nervous system(4.6)

Phenotype-based relationships between genes and organs from Gene ORGANizer for ALG3 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • digestive
  • immune
  • integumentary
  • nervous
  • skeletal muscle
  • skeleton
Organs:
Head and neck:
  • brain
  • cerebellum
  • cranial nerve
  • ear
  • eye
  • eyelid
  • face
  • head
  • mouth
  • nose
  • outer ear
  • pharynx
  • skull
Thorax:
  • chest wall
  • esophagus
  • heart
Abdomen:
  • abdominal wall
  • intestine
  • large intestine
  • small intestine
  • stomach
Limb:
  • ankle
  • digit
  • elbow
  • finger
  • foot
  • hand
  • hip
  • knee
  • lower limb
  • nail
  • shoulder
  • toe
  • upper limb
  • wrist
General:
  • blood
  • blood vessel
  • peripheral nervous system
  • skin
  • spinal cord
  • white blood cell
genes like me logo Genes that share expression patterns with ALG3: view

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , Protein tissue co-expression partners and mRNA Expression by UniProt/SwissProt for ALG3 Gene

Orthologs for ALG3 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for ALG3 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia ALG3 33
  • 97.1 (n)
dog
(Canis familiaris)
Mammalia ALG3 33 34
  • 92.47 (n)
cow
(Bos Taurus)
Mammalia ALG3 33 34
  • 92.31 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia ALG3 34
  • 89 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Alg3 33 16 34
  • 86.76 (n)
rat
(Rattus norvegicus)
Mammalia Alg3 33
  • 85.77 (n)
oppossum
(Monodelphis domestica)
Mammalia ALG3 34
  • 82 (a)
OneToOne
chicken
(Gallus gallus)
Aves ALG3 33 34
  • 74.06 (n)
lizard
(Anolis carolinensis)
Reptilia ALG3 34
  • 71 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia alg3 33
  • 64.9 (n)
zebrafish
(Danio rerio)
Actinopterygii alg3 34 33
  • 64.04 (n)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta l(2)not 33 34
  • 59.22 (n)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP007168 33
  • 57.95 (n)
worm
(Caenorhabditis elegans)
Secernentea K09E4.2 33 34
  • 53.96 (n)
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_AGL299C 33
  • 53.03 (n)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes ALG3 33 34
  • 48.39 (n)
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0E20747g 33
  • 43.19 (n)
thale cress
(Arabidopsis thaliana)
eudicotyledons ALG3 33
  • 50.33 (n)
rice
(Oryza sativa)
Liliopsida Os01g0172000 33
  • 51.18 (n)
Os.16184 33
sea squirt
(Ciona savignyi)
Ascidiacea CSA.5078 34
  • 55 (a)
OneToOne
bread mold
(Neurospora crassa)
Ascomycetes NCU06552 33
  • 50.73 (n)
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes alg3 33
  • 42.61 (n)
Species where no ortholog for ALG3 was found in the sources mined by GeneCards:
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • Alicante grape (Vitis vinifera)
  • 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)
  • rainbow trout (Oncorhynchus mykiss)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • 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 ALG3 Gene

ENSEMBL:
Gene Tree for ALG3 (if available)
TreeFam:
Gene Tree for ALG3 (if available)

Paralogs for ALG3 Gene

Pseudogenes.org Pseudogenes for ALG3 Gene

genes like me logo Genes that share paralogs with ALG3: view

No data available for Paralogs for ALG3 Gene

Variants for ALG3 Gene

Sequence variations from dbSNP and Humsavar for ALG3 Gene

SNP ID Clin Chr 03 pos Variation AA Info Type
rs119103236 pathogenic, Congenital disorder of glycosylation type 1D, Congenital disorder of glycosylation 1D (CDG1D) [MIM:601110] 184,245,291(-) C/A/T coding_sequence_variant, missense_variant, non_coding_transcript_variant
rs119103237 pathogenic, Congenital disorder of glycosylation type 1D 184,245,798(-) A/G coding_sequence_variant, intron_variant, missense_variant, non_coding_transcript_variant
rs119103238 pathogenic, Congenital disorder of glycosylation type 1D 184,245,333(-) A/G/T coding_sequence_variant, missense_variant, non_coding_transcript_variant
rs142901178 uncertain-significance, Congenital disorder of glycosylation 184,243,946(-) G/A coding_sequence_variant, non_coding_transcript_variant, synonymous_variant
rs186599528 uncertain-significance, Congenital disorder of glycosylation 184,242,362(-) G/A 3_prime_UTR_variant, non_coding_transcript_variant

Structural Variations from Database of Genomic Variants (DGV) for ALG3 Gene

Variant ID Type Subtype PubMed ID
nsv528639 CNV loss 19592680
nsv592666 CNV loss 21841781
nsv829812 CNV loss 17160897

Variation tolerance for ALG3 Gene

Residual Variation Intolerance Score: 58.3% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.32; 41.34% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for ALG3 Gene

Human Gene Mutation Database (HGMD)
ALG3
SNPedia medical, phenotypic, and genealogical associations of SNPs for
ALG3

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for ALG3 Gene

Disorders for ALG3 Gene

MalaCards: The human disease database

(2) MalaCards diseases for ALG3 Gene - From: HGMD, OMIM, ClinVar, GTR, Orphanet, Swiss-Prot, DISEASES, and GeneCards

- elite association - COSMIC cancer census association via MalaCards
Search ALG3 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

ALG3_HUMAN
  • Congenital disorder of glycosylation 1D (CDG1D) [MIM:601110]: 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:10581255, ECO:0000269 PubMed:15840742}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Additional Disease Information for ALG3

genes like me logo Genes that share disorders with ALG3: view

No data available for Genatlas for ALG3 Gene

Publications for ALG3 Gene

  1. Carbohydrate deficient glycoprotein syndrome type IV: deficiency of dolichyl-P-Man:Man(5)GlcNAc(2)-PP-dolichyl mannosyltransferase. (PMID: 10581255) Körner C … von Figura K (The EMBO journal 1999) 3 4 22 58
  2. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4 58
  3. An activated 5' cryptic splice site in the human ALG3 gene generates a premature termination codon insensitive to nonsense-mediated mRNA decay in a new case of congenital disorder of glycosylation type Id (CDG-Id). (PMID: 15108280) Denecke J … Marquardt T (Human mutation 2004) 3 22 58
  4. Will an electric current replace the syringe for anesthesia? (PMID: 1058125) Jerrold LE (Dental student 1975) 2 3 58
  5. Architecture of the human interactome defines protein communities and disease networks. (PMID: 28514442) Huttlin EL … Harper JW (Nature 2017) 3 58

Products for ALG3 Gene

Sources for ALG3 Gene

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