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Aliases for ALG9 Gene

Aliases for ALG9 Gene

  • ALG9, Alpha-1,2-Mannosyltransferase 2 3
  • DIBD1 3 4 6
  • 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
  • CDG1L 3 6
  • 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-1,2-Mannosyltransferase Homolog 3
  • Loss Of Heterozygosity, 11, Chromosomal Region 1 Gene J Product 3
  • Alpha-1,2-Mannosyltransferase ALG9 3
  • EC 2.4.1.259 4
  • EC 2.4.1.261 4
  • LOH11CR1J 3

External Ids for ALG9 Gene

Previous Symbols for ALG9 Gene

  • DIBD1

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 and bipolar disorder. Among its related pathways are Biosynthesis of the N-glycan precursor (dolichol lipid-linked oligosaccharide, LLO) and transfer to a nascent protein and Biosynthesis of the N-glycan precursor (dolichol lipid-linked oligosaccharide, LLO) and transfer to a nascent protein. GO annotations related to this gene include dol-P-Man:Man(8)GlcNAc(2)-PP-Dol alpha-1,2-mannosyltransferase activity and dol-P-Man:Man(6)GlcNAc(2)-PP-Dol alpha-1,2-mannosyltransferase activity.

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

Genomic Location for ALG9 Gene

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

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for ALG9 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for ALG9 Gene

Regulatory Elements 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

  • Modification sites at PhosphoSitePlus
  • Ubiquitination at Lys49, Lys63, and Lys470
  • Glycosylation at Asn77 and Asn593

No data available for DME Specific Peptides for ALG9 Gene

Domains for ALG9 Gene

Gene Families for ALG9 Gene

HGNC:
  • DOLPM :Dolichyl D-mannosyl phosphate dependent mannosyltransferases

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
Family:
  • Belongs to the glycosyltransferase 22 family.:
    • Q9H6U8
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

Gene Ontology (GO) - Molecular Function for ALG9 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000030 mannosyltransferase activity IBA --
GO:0016757 transferase activity, transferring glycosyl groups --
GO:0052918 dol-P-Man:Man(8)GlcNAc(2)-PP-Dol alpha-1,2-mannosyltransferase activity IEA --
GO:0052926 dol-P-Man:Man(6)GlcNAc(2)-PP-Dol alpha-1,2-mannosyltransferase activity IEA --
genes like me logo Genes that share ontologies with ALG9: view

miRNA for ALG9 Gene

miRTarBase miRNAs that target ALG9

No data available for Phenotypes , Animal Models , Transcription Factor Targeting 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 5
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:0005783 endoplasmic reticulum IBA --
GO:0005789 endoplasmic reticulum membrane TAS --
GO:0016020 membrane IDA 19946888
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with ALG9: view

Pathways 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:0006488 dolichol-linked oligosaccharide biosynthetic process TAS --
GO:0018279 protein N-linked glycosylation via asparagine TAS --
GO:0043687 post-translational protein modification TAS --
GO:0044267 cellular protein metabolic process TAS --
GO:0097502 mannosylation IEA --
genes like me logo Genes that share ontologies 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

Integrated Proteomics: protein expression 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 expressions with ALG9: view

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
chimpanzee
(Pan troglodytes)
Mammalia ALG9 35
  • 99.7 (n)
  • 99.55 (a)
ALG9 36
  • 100 (a)
OneToOne
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
oppossum
(Monodelphis domestica)
Mammalia ALG9 36
  • 76 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia ALG9 36
  • 57 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Alg9 35
  • 88.77 (n)
  • 94.34 (a)
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)
alg9 36
  • 54 (a)
OneToOne
zgc63820 35
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)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes ALG9 35
  • 49.01 (n)
  • 38.09 (a)
ALG9 36
  • 25 (a)
OneToOne
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0D19404g 35
  • 49.35 (n)
  • 43.32 (a)
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)
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 intestinalis)
Ascidiacea Cin.14006 35
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

Selected SIMAP similar genes for ALG9 Gene using alignment to 5 proteins:

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

No data available for Paralogs for ALG9 Gene

Variants for ALG9 Gene

Sequence variations from dbSNP and Humsavar for ALG9 Gene

SNP ID Clin Chr 11 pos Sequence Context AA Info Type MAF
rs170666 -- 111,804,616(+) acact(A/T)agaaa intron-variant
rs170667 -- 111,826,322(+) tcgag(A/G)ctgca intron-variant
rs170668 -- 111,827,864(+) tctgt(A/C)tccaa intron-variant
rs172948 -- 111,821,668(+) tctcg(C/T)tctgt intron-variant
rs172949 -- 111,804,116(+) tgaca(G/T)agtaa intron-variant

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

Relevant External Links for ALG9 Gene

HapMap Linkage Disequilibrium report
ALG9
Human Gene Mutation Database (HGMD)
ALG9
Locus Specific Mutation Databases (LSDB)
ALG9

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

Disorders for ALG9 Gene

(1) OMIM Diseases for ALG9 Gene (606941)

UniProtKB/Swiss-Prot

ALG9_HUMAN
  • 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.
  • 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.

(1) University of Copenhagen DISEASES for ALG9 Gene

(4) Novoseek inferred disease relationships for ALG9 Gene

Disease -log(P) Hits PubMed IDs
congenital disorders 83 1
hepatomegaly 61.9 2
developmental delay 59.8 2
bipolar disorder 49.2 3

Relevant External Links for ALG9

GeneTests
ALG9
GeneReviews
ALG9
Genetic Association Database (GAD)
ALG9
Human Genome Epidemiology (HuGE) Navigator
ALG9
genes like me logo Genes that share disorders with ALG9: view

Publications for ALG9 Gene

  1. 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 4 23
  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 4 23
  3. 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
  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 4 23
  5. Towards a catalog of human genes and proteins: sequencing and analysis of 500 novel complete protein coding human cDNAs. (PMID: 11230166) Wiemann S. … Poustka A. (Genome Res. 2001) 3 4

Products for ALG9 Gene

Sources for ALG9 Gene

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