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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 61
  • 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. Among its related pathways are Transport to the Golgi and subsequent modification and Metabolism of proteins. 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

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

Genomics for ALG3 Gene

Regulatory Elements for ALG3 Gene

Enhancers for ALG3 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
GH03G184171 1.6 Ensembl ENCODE dbSUPER 10.5 +74.4 74387 8.0 HDGF CREB3L1 AGO1 ARID4B SIN3A DMAP1 YY1 ZNF766 ZNF143 FOS VWA5B2 ABCF3 EIF2B5 DVL3 ECE2 ALG3 MIR1224 CAMK2N2 AP2M1
GH03G184764 1.4 Ensembl ENCODE dbSUPER 11.9 -516.2 -516231 2.9 HDGF PKNOX1 ATF1 ARNT GTF3C2 SMARCA4 PBX2 KDM1A CTCF KLF1 POLR2H EIF2B5 RPS3P3 ALG3 LINC01840 MAGEF1 EPHB3 PIR43404 LINC02069
GH03G184184 1.4 ENCODE dbSUPER 10.8 +63.5 63451 3.6 HDGF PKNOX1 CREB3L1 AGO1 WRNIP1 ARID4B SIN3A FEZF1 DMAP1 YY1 VWA5B2 POLR2H ABCF3 EIF2B5 ALG3 ECE2 MIR1224 CAMK2N2 PSMD2 EIF4G1
GH03G184154 1.3 ENCODE dbSUPER 10.6 +93.2 93152 4.2 HDGF ARID4B SIN3A DMAP1 SLC30A9 ZNF143 KLF13 SP3 SP5 MXD4 EIF2B5 ALG3 ECE2 ABCF3 CAMK2N2 PSMD2 VWA5B2 MIR1224 EIF4G1 SNORD66
GH03G184015 1.4 Ensembl ENCODE 9.7 +232.5 232546 3.6 HDGF PKNOX1 CREB3L1 ARNT AGO1 WRNIP1 ARID4B SIN3A FEZF1 ZNF2 ABCC5 HTR3C EIF2B5 AP2M1 ALG3 CAMK2N2 ECE2 ABCC5-AS1
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around ALG3 on UCSC Golden Path with GeneCards custom track

Promoters for ALG3 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000162900 248 2601 HNRNPUL1 PKNOX1 MLX CREB3L1 ARNT AGO1 WRNIP1 ARID4B SIN3A DMAP1

Genomic Location for ALG3 Gene

Chromosome:
3
Start:
184,242,301 bp from pter
End:
184,249,548 bp from pter
Size:
7,248 bases
Orientation:
Minus strand

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

  • Ubiquitination at posLast=2222
  • Modification sites at PhosphoSitePlus

Domains & Families for ALG3 Gene

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

Clone Products

  • Applied Biological Materials Clones for ALG3

No data available for 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 --
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with ALG3: view

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 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

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

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
D-Mannose
  • (+)-mannose
  • (+-)-mannose
  • Carubinose
  • D(+)-Mannose
  • D-Mannopyranose
3458-28-4
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

Clone Products

  • Applied Biological Materials Clones for ALG3

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 34
  • 97.1 (n)
dog
(Canis familiaris)
Mammalia ALG3 34 35
  • 92.47 (n)
cow
(Bos Taurus)
Mammalia ALG3 35 34
  • 92.31 (n)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia ALG3 35
  • 89 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Alg3 16 35 34
  • 86.76 (n)
rat
(Rattus norvegicus)
Mammalia Alg3 34
  • 85.77 (n)
oppossum
(Monodelphis domestica)
Mammalia ALG3 35
  • 82 (a)
OneToOne
chicken
(Gallus gallus)
Aves ALG3 34 35
  • 74.06 (n)
lizard
(Anolis carolinensis)
Reptilia ALG3 35
  • 71 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia alg3 34
  • 64.9 (n)
zebrafish
(Danio rerio)
Actinopterygii alg3 34 35
  • 64.04 (n)
fruit fly
(Drosophila melanogaster)
Insecta l(2)not 34 35
  • 59.22 (n)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP007168 34
  • 57.95 (n)
worm
(Caenorhabditis elegans)
Secernentea K09E4.2 34 35
  • 53.96 (n)
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_AGL299C 34
  • 53.03 (n)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes ALG3 34 35
  • 48.39 (n)
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0E20747g 34
  • 43.19 (n)
thale cress
(Arabidopsis thaliana)
eudicotyledons ALG3 34
  • 50.33 (n)
rice
(Oryza sativa)
Liliopsida Os01g0172000 34
  • 51.18 (n)
Os.16184 34
sea squirt
(Ciona savignyi)
Ascidiacea CSA.5078 35
  • 55 (a)
OneToOne
bread mold
(Neurospora crassa)
Ascomycetes NCU06552 34
  • 50.73 (n)
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes alg3 34
  • 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 Sequence Context AA Info Type
rs119103236 Pathogenic, Congenital disorder of glycosylation 1D (CDG1D) [MIM:601110] 184,245,291(-) GCTGC(A/G/T)GCTCT nc-transcript-variant, reference, missense
rs28940588 Pathogenic, Congenital disorder of glycosylation 1D (CDG1D) [MIM:601110] 184,245,559(-) CCGAG(A/G)CACTG nc-transcript-variant, reference, missense
rs119103237 Pathogenic 184,245,798(-) TTGAC(C/T)GGAAG intron-variant, nc-transcript-variant, reference, missense
rs119103238 Pathogenic 184,245,333(-) CTTCA(A/C/T)GTGCT nc-transcript-variant, reference, missense
rs387906273 Pathogenic 184,248,776(-) GTGGG(C/T)ATCAC intron-variant, nc-transcript-variant, upstream-variant-2KB, reference, synonymous-codon

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)

Relevant External Links 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

(1) MalaCards diseases for ALG3 Gene - From: OMIM, ClinVar, Orphanet, Swiss-Prot, and GeneCards

Disorder Aliases PubMed IDs
congenital disorder of glycosylation, type id
  • alg3-cdg
- 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.

Relevant External Links for ALG3

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
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) Koerner C. … von Figura K. (EMBO J. 1999) 3 4 22 64
  2. 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. (Hum. Mutat. 2004) 3 22 64
  3. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard D.S. … Malek J. (Genome Res. 2004) 3 4 64
  4. Will an electric current replace the syringe for anesthesia? (PMID: 1058125) Jerrold L.E. (Dent Stud 1975) 2 3 64
  5. Widespread macromolecular interaction perturbations in human genetic disorders. (PMID: 25910212) Sahni N. … Vidal M. (Cell 2015) 3 64

Products for ALG3 Gene

Sources for ALG3 Gene

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