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Aliases for ALG9 Gene

Aliases for ALG9 Gene

  • ALG9, Alpha-1,2-Mannosyltransferase 2 3 5
  • Dolichyl-P-Man:Man(6)GlcNAc(2)-PP-Dolichol Alpha-1,2-Mannosyltransferase 2 3
  • Dolichyl-P-Man:Man(8)GlcNAc(2)-PP-Dolichol Alpha-1,2-Mannosyltransferase 2 3
  • Dol-P-Man:Man(6)GlcNAc(2)-PP-Dol Alpha-1,2-Mannosyltransferase 3 4
  • Dol-P-Man:Man(8)GlcNAc(2)-PP-Dol Alpha-1,2-Mannosyltransferase 3 4
  • Dol-P-Man Dependent Alpha-1,2-Mannosyltransferase 2 3
  • Asparagine-Linked Glycosylation Protein 9 Homolog 3 4
  • Disrupted In Bipolar Affective Disorder 1 2 3
  • Disrupted In Bipolar Disorder Protein 1 3 4
  • DIBD1 3 4
  • Asparagine-Linked Glycosylation 9, Alpha- 1,2-Mannosyltransferase Homolog (S. Cerevisiae, Alpha- 1,2-Mannosyltransferase) 2
  • Asparagine-Linked Glycosylation 9 Homolog (S. Cerevisiae, Alpha- 1,2-Mannosyltransferase) 3
  • Asparagine-Linked Glycosylation 9, Alpha-1,2-Mannosyltransferase Homolog (S. Cerevisiae) 2
  • Asparagine-Linked Glycosylation 9 Homolog (Yeast, Alpha- 1,2-Mannosyltransferase) 3
  • Asparagine-Linked Glycosylation 9 Homolog (Yeast, Alpha 1,2 Mannosyltransferase) 2
  • Asparagine-Linked Glycosylation 9 Alpha-12-Mannosyltransferase-Like Protein 3
  • Asparagine-Linked Glycosylation 9, Alpha-1,2-Mannosyltransferase Homolog 3
  • Loss Of Heterozygosity, 11, Chromosomal Region 1 Gene J Product 3
  • EC 2.4.1.259 4
  • EC 2.4.1.261 4
  • LOH11CR1J 3
  • CDG1L 3

External Ids for ALG9 Gene

Previous HGNC Symbols for ALG9 Gene

  • DIBD1

Previous GeneCards Identifiers for ALG9 Gene

  • GC11M111162
  • GC11M111652

Summaries for ALG9 Gene

Entrez Gene Summary for ALG9 Gene

  • This gene encodes an alpha-1,2-mannosyltransferase enzyme that functions in lipid-linked oligosaccharide assembly. Mutations in this gene result in congenital disorder of glycosylation type Il. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2008]

GeneCards Summary for ALG9 Gene

ALG9 (ALG9, Alpha-1,2-Mannosyltransferase) is a Protein Coding gene. Diseases associated with ALG9 include Congenital Disorder Of Glycosylation, Type Il. Among its related pathways are Transport to the Golgi and subsequent modification and Metabolism. GO annotations related to this gene include transferase activity, transferring glycosyl groups and dol-P-Man:Man(8)GlcNAc(2)-PP-Dol alpha-1,2-mannosyltransferase activity. An important paralog of this gene is ENSG00000258529.

UniProtKB/Swiss-Prot for ALG9 Gene

  • Catalyzes the transfer of mannose from Dol-P-Man to lipid-linked oligosaccharides.

Gene Wiki entry for ALG9 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for ALG9 Gene

Genomics for ALG9 Gene

Regulatory Elements for ALG9 Gene

Enhancers for ALG9 Gene
GeneHancer Identifier Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

Enhancers around ALG9 on UCSC Golden Path with GeneCards custom track

Promoters for ALG9 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around ALG9 on UCSC Golden Path with GeneCards custom track

Genomic Location for ALG9 Gene

Chromosome:
11
Start:
111,782,195 bp from pter
End:
111,871,581 bp from pter
Size:
89,387 bases
Orientation:
Minus strand

Genomic View for ALG9 Gene

Genes around ALG9 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
ALG9 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for ALG9 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for ALG9 Gene

Proteins for ALG9 Gene

  • Protein details for ALG9 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9H6U8-ALG9_HUMAN
    Recommended name:
    Alpha-1,2-mannosyltransferase ALG9
    Protein Accession:
    Q9H6U8
    Secondary Accessions:
    • Q6ZMD5
    • Q7Z4R4
    • Q96GS7
    • Q96PB9
    • Q9H068

    Protein attributes for ALG9 Gene

    Size:
    611 amino acids
    Molecular mass:
    69863 Da
    Quaternary structure:
    No Data Available

    Alternative splice isoforms for ALG9 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for ALG9 Gene

Proteomics data for ALG9 Gene at MOPED

Post-translational modifications for ALG9 Gene

  • Ubiquitination at Lys 49, Lys 63, and Lys 470
  • Glycosylation at Asn 77 and Asn 593
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for ALG9 Gene

Domains & Families for ALG9 Gene

Protein Domains for ALG9 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for ALG9 Gene

Graphical View of Domain Structure for InterPro Entry

Q9H6U8

UniProtKB/Swiss-Prot:

ALG9_HUMAN :
  • Belongs to the glycosyltransferase 22 family.
Family:
  • Belongs to the glycosyltransferase 22 family.
genes like me logo Genes that share domains with ALG9: view

Function for ALG9 Gene

Molecular function for ALG9 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->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->2)-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 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->2)-D-Man-alpha-(1->3)-(D-Man-alpha-(1->6))-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->2)-D-Man-alpha-(1->3)-(D-Man-alpha-(1->2)-D-Man-alpha-(1->6))-D-Man-alpha-(1->6)]-D-Man-beta-(1->4)-D-GlcNAc-beta-(1->4)-D-GlcNAc-diphosphodolichol + dolichyl phosphate.
UniProtKB/Swiss-Prot Function:
Catalyzes the transfer of mannose from Dol-P-Man to lipid-linked oligosaccharides.

Enzyme Numbers (IUBMB) for ALG9 Gene

Phenotypes for ALG9 Gene

genes like me logo Genes that share phenotypes with ALG9: view

Human Phenotype Ontology for ALG9 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Model Products

  • Taconic Biosciences Mouse Models for ALG9

miRNA for ALG9 Gene

miRTarBase miRNAs that target ALG9

Flow Cytometry Products

No data available for Gene Ontology (GO) - Molecular Function , Animal Models , Transcription Factor Targets and HOMER Transcription for ALG9 Gene

Localization for ALG9 Gene

Subcellular locations from UniProtKB/Swiss-Prot for ALG9 Gene

Endoplasmic reticulum membrane; Multi-pass membrane protein.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for ALG9 Gene COMPARTMENTS Subcellular localization image for ALG9 gene
Compartment Confidence
endoplasmic reticulum 4
cytosol 3
extracellular 1
nucleus 1
peroxisome 1
plasma membrane 1

Gene Ontology (GO) - Cellular Components for ALG9 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0016020 membrane IDA 19946888
genes like me logo Genes that share ontologies with ALG9: view

Pathways & Interactions for ALG9 Gene

genes like me logo Genes that share pathways with ALG9: view

UniProtKB/Swiss-Prot Q9H6U8-ALG9_HUMAN

  • Pathway: Protein modification; protein glycosylation.

Gene Ontology (GO) - Biological Process for ALG9 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006486 protein glycosylation IEA --
GO:0008152 metabolic process IEA --
GO:0043687 post-translational protein modification TAS --
genes like me logo Genes that share ontologies with ALG9: view

No data available for SIGNOR curated interactions for ALG9 Gene

Drugs & Compounds for ALG9 Gene

(2) Additional Compounds for ALG9 Gene - From: HMDB

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 ALG9: view

Transcripts for ALG9 Gene

Unigene Clusters for ALG9 Gene

ALG9, alpha-1,2-mannosyltransferase:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for ALG9 Gene

ExUns: 1a · 1b · 1c ^ 2a · 2b · 2c ^ 3 ^ 4a · 4b ^ 5 ^ 6 ^ 7a · 7b · 7c ^ 8 ^ 9 ^ 10 ^ 11 ^ 12a · 12b ^ 13a · 13b ^ 14a · 14b ^ 15 ^ 16 ^
SP1: -
SP2: - - - - -
SP3: - - -
SP4: - - -
SP5:
SP6: -
SP7: -
SP8: -
SP9:
SP10:
SP11:
SP12:

ExUns: 17a · 17b · 17c ^ 18 ^ 19a · 19b · 19c ^ 20
SP1:
SP2:
SP3:
SP4:
SP5:
SP6:
SP7: -
SP8:
SP9:
SP10: -
SP11: - - -
SP12:

Relevant External Links for ALG9 Gene

GeneLoc Exon Structure for
ALG9
ECgene alternative splicing isoforms for
ALG9

Expression for ALG9 Gene

mRNA expression in normal human tissues for ALG9 Gene

Protein differential expression in normal tissues from HIPED for ALG9 Gene

This gene is overexpressed in Pancreas (16.9), Testis (14.0), Placenta (10.3), and Retina (7.4).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MOPED, and MaxQB for ALG9 Gene



SOURCE GeneReport for Unigene cluster for ALG9 Gene Hs.745155

mRNA Expression by UniProt/SwissProt for ALG9 Gene

Q9H6U8-ALG9_HUMAN
Tissue specificity: Ubiquitously expressed; with highest levels in heart, liver and pancreas.
genes like me logo Genes that share expression patterns with ALG9: view

Protein tissue co-expression partners for ALG9 Gene

- Elite partner

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery and mRNA differential expression in normal tissues for ALG9 Gene

Orthologs for ALG9 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for ALG9 Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia ALG9 35
  • 92.19 (n)
  • 95.9 (a)
ALG9 36
  • 69 (a)
OneToOne
dog
(Canis familiaris)
Mammalia ALG9 35
  • 92.3 (n)
  • 96.07 (a)
ALG9 36
  • 70 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Alg9 35
  • 87.77 (n)
  • 94.41 (a)
Alg9 16
Alg9 36
  • 69 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia ALG9 35
  • 99.7 (n)
  • 99.55 (a)
ALG9 36
  • 100 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Alg9 35
  • 88.77 (n)
  • 94.34 (a)
oppossum
(Monodelphis domestica)
Mammalia ALG9 36
  • 76 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia ALG9 36
  • 57 (a)
OneToOne
chicken
(Gallus gallus)
Aves ALG9 35
  • 75.89 (n)
  • 82.82 (a)
ALG9 36
  • 61 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia ALG9 36
  • 44 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia alg9 35
  • 73.47 (n)
  • 78.55 (a)
zebrafish
(Danio rerio)
Actinopterygii alg9 35
  • 70.3 (n)
  • 76.34 (a)
zgc63820 35
alg9 36
  • 54 (a)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP003601 35
  • 48.98 (n)
  • 43.13 (a)
fruit fly
(Drosophila melanogaster)
Insecta CG11851 35
  • 50.75 (n)
  • 43.95 (a)
CG11851 36
  • 30 (a)
OneToOne
worm
(Caenorhabditis elegans)
Secernentea C14A4.3 35
  • 48.99 (n)
  • 40.52 (a)
C14A4.3 36
  • 29 (a)
OneToOne
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_ABL185C 35
  • 46.16 (n)
  • 40.65 (a)
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0D19404g 35
  • 49.35 (n)
  • 43.32 (a)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes ALG9 35
  • 49.01 (n)
  • 38.09 (a)
ALG9 36
  • 25 (a)
OneToOne
thale cress
(Arabidopsis thaliana)
eudicotyledons AT1G16900 35
  • 45.42 (n)
  • 35.19 (a)
rice
(Oryza sativa)
Liliopsida Os01g0209000 35
  • 46.33 (n)
  • 38.45 (a)
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.14006 35
bread mold
(Neurospora crassa)
Ascomycetes NCU04454 35
  • 50 (n)
  • 40.8 (a)
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes alg9 35
  • 46.75 (n)
  • 40.64 (a)
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 36 (a)
OneToOne
Species with no ortholog for ALG9:
  • 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 ALG9 Gene

ENSEMBL:
Gene Tree for ALG9 (if available)
TreeFam:
Gene Tree for ALG9 (if available)

Paralogs for ALG9 Gene

Paralogs for ALG9 Gene

(1) SIMAP similar genes for ALG9 Gene using alignment to 5 proteins:

genes like me logo Genes that share paralogs with ALG9: view

Variants for ALG9 Gene

Sequence variations from dbSNP and Humsavar for ALG9 Gene

SNP ID Clin Chr 11 pos Sequence Context AA Info Type
VAR_023410 Congenital disorder of glycosylation 1L (CDG1L)
rs10502151 - 111,853,410(+) AAAGA(C/T)ATTAT nc-transcript-variant, reference, missense
VAR_023412 -
VAR_023413 Congenital disorder of glycosylation 1L (CDG1L)
rs36111204 - 111,857,609(+) AAGAG(C/G)TGCAC nc-transcript-variant, reference, missense

Structural Variations from Database of Genomic Variants (DGV) for ALG9 Gene

Variant ID Type Subtype PubMed ID
nsv832269 CNV Loss 17160897
nsv492 CNV Insertion 18451855

Variation tolerance for ALG9 Gene

Residual Variation Intolerance Score: 43.8% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 9.17; 87.90% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for ALG9 Gene

Human Gene Mutation Database (HGMD)
ALG9

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for ALG9 Gene

Disorders for ALG9 Gene

MalaCards: The human disease database

(1) MalaCards diseases for ALG9 Gene - From: OMIM, ClinVar, Swiss-Prot, and GeneCards

Disorder Aliases PubMed IDs
congenital disorder of glycosylation, type il
  • congenital disorder of glycosylation 1l
- elite association - COSMIC cancer census association via MalaCards
Search ALG9 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

ALG9_HUMAN
  • Congenital disorder of glycosylation 1L (CDG1L) [MIM:608776]: 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:15148656, ECO:0000269 PubMed:15945070}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Note=A chromosomal aberration involving ALG9 is found in a family with bipolar affective disorder. Translocation t(9;11)(p24;q23). However, common variations in ALG9 do not play a major role in predisposition to bipolar affective disorder. {ECO:0000269 PubMed:12030331}.

Relevant External Links for ALG9

Genetic Association Database (GAD)
ALG9
Human Genome Epidemiology (HuGE) Navigator
ALG9
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
ALG9
genes like me logo Genes that share disorders with ALG9: view

No data available for Genatlas for ALG9 Gene

Publications for ALG9 Gene

  1. Common variations in ALG9 are not associated with bipolar I disorder: a family-based study. (PMID: 16859551) Baysal B.E. … Nimgaonkar V.L. (Behav. Brain Funct. 2006) 3 4 23 48 67
  2. Identification and functional analysis of a defect in the human ALG9 gene: definition of congenital disorder of glycosylation type IL. (PMID: 15148656) Frank C.G. … Hennet T. (Am. J. Hum. Genet. 2004) 2 3 23
  3. A mannosyltransferase gene at 11q23 is disrupted by a translocation breakpoint that co-segregates with bipolar affective disorder in a small family. (PMID: 12030331) Baysal B.E. … Detera-Wadleigh S.D. (Neurogenetics 2002) 2 3 23
  4. CDG-IL: an infant with a novel mutation in the ALG9 gene and additional phenotypic features. (PMID: 15945070) Weinstein M. … Poplawski N. (Am. J. Med. Genet. A 2005) 3 23
  5. Widespread Expansion of Protein Interaction Capabilities by Alternative Splicing. (PMID: 26871637) Yang X. … Vidal M. (Cell 2016) 3

Products for ALG9 Gene

Sources for ALG9 Gene

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