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Aliases for ALG11 Gene

Aliases for ALG11 Gene

  • ALG11, Alpha-1,2-Mannosyltransferase 2 3 5
  • GDP-Man:Man(3)GlcNAc(2)-PP-Dolichol Alpha-1,2-Mannosyltransferase 2 3
  • Asparagine-Linked Glycosylation Protein 11 Homolog 3 4
  • Glycolipid 2-Alpha-Mannosyltransferase 3 4
  • GT8 3 4
  • Asparagine-Linked Glycosylation 11 Homolog (S. Cerevisiae, Alpha-1,2-Mannosyltransferase) 2
  • Asparagine-Linked Glycosylation 11, Alpha-1,2-Mannosyltransferase Homolog (Yeast) 2
  • Asparagine-Linked Glycosylation 11, Alpha-1,2-Mannosyltransferase Homolog 3
  • GDP-Man:Man(3)GlcNAc(2)-PP-Dol Alpha-1,2-Mannosyltransferase 3
  • EC 2.4.1.131 4
  • EC 2.4.1 56
  • CDG1P 3

External Ids for ALG11 Gene

Previous GeneCards Identifiers for ALG11 Gene

  • GC13P051485
  • GC13P052587
  • GC13P033375

Summaries for ALG11 Gene

Entrez Gene Summary for ALG11 Gene

  • This gene encodes a GDP-Man:Man3GlcNAc2-PP-dolichol-alpha1,2-mannosyltransferase which is localized to the cytosolic side of the endoplasmic reticulum (ER) and catalyzes the transfer of the fourth and fifth mannose residue from GDP-mannose (GDP-Man) to Man3GlcNAc2-PP-dolichol and Man4GlcNAc2-PP-dolichol resulting in the production of Man5GlcNAc2-PP-dolichol. Mutations in this gene are associated with congenital disorder of glycosylation type Ip (CDGIP). This gene overlaps but is distinct from the UTP14, U3 small nucleolar ribonucleoprotein, homolog C (yeast) gene. A pseudogene of the GDP-Man:Man3GlcNAc2-PP-dolichol-alpha1,2-mannosyltransferase has been identified on chromosome 19. [provided by RefSeq, Aug 2010]

GeneCards Summary for ALG11 Gene

ALG11 (ALG11, Alpha-1,2-Mannosyltransferase) is a Protein Coding gene. Diseases associated with ALG11 include Congenital Disorder Of Glycosylation, Type Ip. 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 GDP-Man:Man3GlcNAc2-PP-Dol alpha-1,2-mannosyltransferase activity.

UniProtKB/Swiss-Prot for ALG11 Gene

  • Mannosyltransferase involved in the last steps of the synthesis of Man5GlcNAc(2)-PP-dolichol core oligosaccharide on the cytoplasmic face of the endoplasmic reticulum. Catalyzes the addition of the 4th and 5th mannose residues to the dolichol-linked oligosaccharide chain.

Gene Wiki entry for ALG11 Gene

Additional gene information for ALG11 Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for ALG11 Gene

Genomics for ALG11 Gene

GeneHancer (GH) Regulatory Elements for ALG11 Gene

Promoters and enhancers for ALG11 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
GH13I052009 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE 566.2 -0.6 -645 3.8 HDGF PKNOX1 FOXA2 ZFP64 ARID4B SIN3A DMAP1 ZNF2 ZBTB7B YY1 ATP7B ALG11 NEK3 TPTE2P2 INTS6 FABP5P2
GH13I052193 Promoter/Enhancer 2.1 FANTOM5 Ensembl ENCODE dbSUPER 54.8 +182.3 182273 2.7 MLX ZFP64 FEZF1 DMAP1 IRF4 YY1 SLC30A9 ZNF213 E2F8 ZNF143 MRPS31P5 ALG11 RPS4XP16 UTP14C SUGT1 CKAP2 INTS6 SERPINE3 INTS6-AS1 TPTE2P2
GH13I052650 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE 22.3 +640.2 640238 3.7 MLX ARNT ZFP64 ARID4B NEUROD1 SIN3A DMAP1 ZNF2 YY1 POLR2B ENSG00000273723 SUGT1 ALG11 CKAP2 TPTE2P2 UTP14C
GH13I051315 Enhancer 0.8 Ensembl ENCODE 35.6 -696.7 -696681 1.3 USF1 GFI1B ZSCAN4 MAX ZNF662 REST ZNF670 ZIC2 IKZF1 GLIS1 ALG11 INTS6 SERPINE3 UTP14C FAM124A RNASEH2B GC13P051260
GH13I052616 Promoter/Enhancer 1.8 FANTOM5 Ensembl ENCODE 13.1 +605.1 605142 2.1 PKNOX1 MLX ARNT ZFP64 ARID4B SIN3A DMAP1 ZNF2 IRF4 YY1 HNRNPA1L2 TPTE2P2 UTP14C ALG11 ENSG00000273784 MRPS31P4 ENSG00000273723
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around ALG11 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the ALG11 gene promoter:

Genomic Locations for ALG11 Gene

Genomic Locations for ALG11 Gene
chr13:52,012,387-52,029,664
(GRCh38/hg38)
Size:
17,278 bases
Orientation:
Plus strand
chr13:52,586,523-52,603,800
(GRCh37/hg19)

Genomic View for ALG11 Gene

Genes around ALG11 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
ALG11 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for ALG11 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for ALG11 Gene

Proteins for ALG11 Gene

  • Protein details for ALG11 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q2TAA5-ALG11_HUMAN
    Recommended name:
    GDP-Man:Man(3)GlcNAc(2)-PP-Dol alpha-1,2-mannosyltransferase
    Protein Accession:
    Q2TAA5
    Secondary Accessions:
    • A5PLP3
    • B4DKW9
    • Q5TAN9
    • Q6DKI6
    • Q96FI7

    Protein attributes for ALG11 Gene

    Size:
    492 amino acids
    Molecular mass:
    55651 Da
    Quaternary structure:
    No Data Available
    SequenceCaution:
    • Sequence=AAI11023.1; Type=Frameshift; Positions=16; Evidence={ECO:0000305};

neXtProt entry for ALG11 Gene

Selected DME Specific Peptides for ALG11 Gene

Q2TAA5:
  • CNAGGGGE
  • GGGGERVLW
  • MWNEHFGI

Post-translational modifications for ALG11 Gene

  • Glycosylation at Asn257 and posLast=273273

Other Protein References for ALG11 Gene

ENSEMBL proteins:
REFSEQ proteins:

Domains & Families for ALG11 Gene

Gene Families for ALG11 Gene

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

Protein Domains for ALG11 Gene

Suggested Antigen Peptide Sequences for ALG11 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q2TAA5

UniProtKB/Swiss-Prot:

ALG11_HUMAN :
  • Belongs to the glycosyltransferase group 1 family. Glycosyltransferase 4 subfamily.
Family:
  • Belongs to the glycosyltransferase group 1 family. Glycosyltransferase 4 subfamily.
genes like me logo Genes that share domains with ALG11: view

Function for ALG11 Gene

Molecular function for ALG11 Gene

UniProtKB/Swiss-Prot CatalyticActivity:
2 GDP-alpha-D-mannose + D-Man-alpha-(1->3)-(D-Man-alpha-(1->6))-D-Man-beta-(1->4)-D-GlcNAc-beta-(1->4)-D-GlcNAc-diphosphodolichol = 2 GDP + 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.
UniProtKB/Swiss-Prot Function:
Mannosyltransferase involved in the last steps of the synthesis of Man5GlcNAc(2)-PP-dolichol core oligosaccharide on the cytoplasmic face of the endoplasmic reticulum. Catalyzes the addition of the 4th and 5th mannose residues to the dolichol-linked oligosaccharide chain.

Enzyme Numbers (IUBMB) for ALG11 Gene

Gene Ontology (GO) - Molecular Function for ALG11 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004377 GDP-Man:Man3GlcNAc2-PP-Dol alpha-1,2-mannosyltransferase activity IBA --
GO:0016740 transferase activity IEA --
GO:0016757 transferase activity, transferring glycosyl groups IEA --
genes like me logo Genes that share ontologies with ALG11: view

Phenotypes for ALG11 Gene

genes like me logo Genes that share phenotypes with ALG11: view

Human Phenotype Ontology for ALG11 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 , miRNA , Transcription Factor Targets and HOMER Transcription for ALG11 Gene

Localization for ALG11 Gene

Subcellular locations from UniProtKB/Swiss-Prot for ALG11 Gene

Endoplasmic reticulum. 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 ALG11 gene
Compartment Confidence
endoplasmic reticulum 3

Gene Ontology (GO) - Cellular Components for ALG11 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005783 endoplasmic reticulum IEA --
GO:0005789 endoplasmic reticulum membrane IBA --
GO:0016020 membrane HDA,IEA 19946888
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with ALG11: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for ALG11 Gene

Pathways & Interactions for ALG11 Gene

genes like me logo Genes that share pathways with ALG11: view

Gene Ontology (GO) - Biological Process for ALG11 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006490 oligosaccharide-lipid intermediate biosynthetic process IBA --
GO:0033577 protein glycosylation in endoplasmic reticulum IBA --
GO:0097502 mannosylation IEA --
genes like me logo Genes that share ontologies with ALG11: view

No data available for SIGNOR curated interactions for ALG11 Gene

Drugs & Compounds for ALG11 Gene

(1) Drugs for ALG11 Gene - From: HMDB

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

(1) Additional Compounds for ALG11 Gene - From: HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
Guanosine diphosphate mannose
  • GDP Mannose
  • GDP-D-Mannose
  • GDP-Glucose
  • GDP-Mannose
  • Guanosine Diphosphate Mannose
3123-67-9
genes like me logo Genes that share compounds with ALG11: view

Transcripts for ALG11 Gene

Unigene Clusters for ALG11 Gene

ALG11, alpha-1,2-mannosyltransferase:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Alternative Splicing Database (ASD) splice patterns (SP) for ALG11 Gene

No ASD Table

Relevant External Links for ALG11 Gene

GeneLoc Exon Structure for
ALG11
ECgene alternative splicing isoforms for
ALG11

Expression for ALG11 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for ALG11 Gene

Protein differential expression in normal tissues from HIPED for ALG11 Gene

This gene is overexpressed in Nasal epithelium (49.9).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for ALG11 Gene



Protein tissue co-expression partners for ALG11 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of ALG11 Gene:

ALG11

SOURCE GeneReport for Unigene cluster for ALG11 Gene:

Hs.512963

Evidence on tissue expression from TISSUES for ALG11 Gene

  • Lung(4)
  • Skin(4)

Phenotype-based relationships between genes and organs from Gene ORGANizer for ALG11 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • digestive
  • nervous
  • skeletal muscle
Regions:
Head and neck:
  • brain
  • cranial nerve
  • ear
  • eye
  • head
Thorax:
  • esophagus
  • heart
Abdomen:
  • stomach
General:
  • blood vessel
  • peripheral nerve
  • peripheral nervous system
  • spinal cord
genes like me logo Genes that share expression patterns with ALG11: 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 ALG11 Gene

Orthologs for ALG11 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for ALG11 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia ALG11 34
  • 100 (a)
OneToOne
dog
(Canis familiaris)
Mammalia ALG11 34 33
  • 89.84 (n)
OneToOne
cow
(Bos Taurus)
Mammalia ALG11 33 34
  • 88.28 (n)
mouse
(Mus musculus)
Mammalia Alg11 16 34 33
  • 85.95 (n)
rat
(Rattus norvegicus)
Mammalia Alg11 33
  • 85.68 (n)
oppossum
(Monodelphis domestica)
Mammalia ALG11 34
  • 77 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia ALG11 34
  • 77 (a)
OneToOne
chicken
(Gallus gallus)
Aves ALG11 33 34
  • 72.93 (n)
lizard
(Anolis carolinensis)
Reptilia ALG11 34
  • 68 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia alg11 33
  • 67.64 (n)
zebrafish
(Danio rerio)
Actinopterygii alg11 33 34
  • 63.2 (n)
fruit fly
(Drosophila melanogaster)
Insecta CG11306 33 34
  • 54.22 (n)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP011324 33
  • 52.26 (n)
worm
(Caenorhabditis elegans)
Secernentea B0361.8 33 34
  • 52.14 (n)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes ALG11 33 34
  • 53.09 (n)
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0F03817g 33
  • 49.92 (n)
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_ADL235W 33
  • 46.81 (n)
thale cress
(Arabidopsis thaliana)
eudicotyledons LEW3 33
  • 52.97 (n)
rice
(Oryza sativa)
Liliopsida Os12g0583000 33
  • 52.56 (n)
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes alg11 33
  • 51.99 (n)
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 51 (a)
OneToOne
bread mold
(Neurospora crassa)
Ascomycetes NCU06779 33
  • 49.64 (n)
Species where no ortholog for ALG11 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 ALG11 Gene

ENSEMBL:
Gene Tree for ALG11 (if available)
TreeFam:
Gene Tree for ALG11 (if available)

Paralogs for ALG11 Gene

Pseudogenes.org Pseudogenes for ALG11 Gene

genes like me logo Genes that share paralogs with ALG11: view

No data available for Paralogs for ALG11 Gene

Variants for ALG11 Gene

Sequence variations from dbSNP and Humsavar for ALG11 Gene

SNP ID Clin Chr 13 pos Variation AA Info Type
rs115564351 uncertain-significance, Wilson disease, not specified 52,011,391(+) C/A upstream_transcript_variant
rs137988059 uncertain-significance, Congenital disorder of glycosylation 52,028,996(+) T/C 3_prime_UTR_variant, non_coding_transcript_variant
rs139798579 uncertain-significance, Congenital disorder of glycosylation, not specified 52,012,462(+) G/C coding_sequence_variant, missense_variant, non_coding_transcript_variant
rs144970453 uncertain-significance, Congenital disorder of glycosylation 52,029,543(+) A/G 3_prime_UTR_variant, non_coding_transcript_variant
rs147711581 uncertain-significance, Congenital disorder of glycosylation 52,024,759(+) A/G coding_sequence_variant, intron_variant, synonymous_variant

Structural Variations from Database of Genomic Variants (DGV) for ALG11 Gene

Variant ID Type Subtype PubMed ID
nsv1134309 CNV deletion 24896259
nsv1122820 CNV deletion 24896259
esv3892343 CNV gain 25118596
esv3383575 CNV duplication 20981092
dgv1652n100 CNV loss 25217958

Variation tolerance for ALG11 Gene

Residual Variation Intolerance Score: 30.1% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.35; 41.72% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for ALG11 Gene

Human Gene Mutation Database (HGMD)
ALG11
SNPedia medical, phenotypic, and genealogical associations of SNPs for
ALG11

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for ALG11 Gene

Disorders for ALG11 Gene

MalaCards: The human disease database

(1) MalaCards diseases for ALG11 Gene - From: HGMD, OMIM, ClinVar, GTR, Orphanet, Swiss-Prot, and GeneCards

Disorder Aliases PubMed IDs
congenital disorder of glycosylation, type ip
  • cdg1p
- elite association - COSMIC cancer census association via MalaCards
Search ALG11 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

ALG11_HUMAN
  • Congenital disorder of glycosylation 1P (CDG1P) [MIM:613661]: 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:20080937, ECO:0000269 PubMed:22213132}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Additional Disease Information for ALG11

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 ALG11: view

No data available for Genatlas for ALG11 Gene

Publications for ALG11 Gene

  1. A severe human metabolic disease caused by deficiency of the endoplasmatic mannosyltransferase hALG11 leads to congenital disorder of glycosylation-Ip. (PMID: 20080937) Rind N … Körner C (Human molecular genetics 2010) 2 3 4 58
  2. Improved diagnostics lead to identification of three new patients with congenital disorder of glycosylation-Ip. (PMID: 22213132) Thiel C … Körner C (Human mutation 2012) 3 4 58
  3. Architecture of the human interactome defines protein communities and disease networks. (PMID: 28514442) Huttlin EL … Harper JW (Nature 2017) 3 58
  4. The BioPlex Network: A Systematic Exploration of the Human Interactome. (PMID: 26186194) Huttlin EL … Gygi SP (Cell 2015) 3 58
  5. Cloning and transcriptional expression of mouse mannosyltransferase IV/V cDNA, which is involved in the synthesis of lipid-linked oligosaccharides. (PMID: 25036826) Nishimura Y … Nishikawa Y (Bioscience, biotechnology, and biochemistry 2014) 3 58

Products for ALG11 Gene

Sources for ALG11 Gene

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