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Aliases for ALG12 Gene

Aliases for ALG12 Gene

  • ALG12, Alpha-1,6-Mannosyltransferase 2 3
  • Asparagine-Linked Glycosylation 12 Homolog (Yeast, Alpha-1,6-Mannosyltransferase) 2 3
  • Dolichyl-P-Man:Man(7)GlcNAc(2)-PP-Dolichol Alpha-1,6-Mannosyltransferase 2 3
  • Dolichyl-P-Man:Man(7)GlcNAc(2)-PP-Dolichyl-Alpha-1,6-Mannosyltransferase 3 4
  • Asparagine-Linked Glycosylation Protein 12 Homolog 3 4
  • Dol-P-Man Dependent Alpha-1,6-Mannosyltransferase 2 3
  • Mannosyltransferase ALG12 Homolog 3 4
  • Membrane Protein SB87 3 4
  • HALG12 3 4
  • CDG1G 3 6
  • Asparagine-Linked Glycosylation 12, Alpha-1,6-Mannosyltransferase Homolog (S. Cerevisiae) 2
  • Asparagine-Linked Glycosylation 12 Homolog (S. Cerevisiae, Alpha-1,6-Mannosyltransferase) 3
  • Asparagine-Linked Glycosylation 12, Alpha-1,6-Mannosyltransferase Homolog 3
  • Dolichyl-P-Mannose:Man-7-GlcNAc-2-PP-Dolichyl-Alpha-6-Mannosyltransferase 3
  • Dol-P-Man:Man(7)GlcNAc(2)-PP-Dol Alpha-1,6-Mannosyltransferase 3
  • EC 2.4.1.260 4
  • PP14673 3
  • ECM39 3

External Ids for ALG12 Gene

Previous GeneCards Identifiers for ALG12 Gene

  • GC00U990901
  • GC22M048516
  • GC22M048617
  • GC22M048682
  • GC22M050296
  • GC22M033243
  • GC22M050297

Summaries for ALG12 Gene

Entrez Gene Summary for ALG12 Gene

  • This gene encodes a member of the glycosyltransferase 22 family. The encoded protein catalyzes the addition of the eighth mannose residue in an alpha-1,6 linkage onto the dolichol-PP-oligosaccharide precursor (dolichol-PP-Man(7)GlcNAc(2)) required for protein glycosylation. Mutations in this gene have been associated with congenital disorder of glycosylation type Ig (CDG-Ig)characterized by abnormal N-glycosylation. [provided by RefSeq, Jul 2008]

GeneCards Summary for ALG12 Gene

ALG12 (ALG12, Alpha-1,6-Mannosyltransferase) is a Protein Coding gene. Diseases associated with ALG12 include congenital disorder of glycosylation, type ig and alg12-congenital disorder of glycosylation. 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 alpha-1,6-mannosyltransferase activity and dol-P-Man:Man(7)GlcNAc(2)-PP-Dol alpha-1,6-mannosyltransferase activity.

UniProtKB/Swiss-Prot for ALG12 Gene

  • Adds the eighth mannose residue in an alpha-1,6 linkage onto the dolichol-PP-oligosaccharide precursor (dolichol-PP-Man(7)GlcNAc(2)) required for protein glycosylation

Gene Wiki entry for ALG12 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for ALG12 Gene

Genomics for ALG12 Gene

Regulatory Elements for ALG12 Gene

Genomic Location for ALG12 Gene

Start:
49,900,229 bp from pter
End:
49,918,458 bp from pter
Size:
18,230 bases
Orientation:
Minus strand

Genomic View for ALG12 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for ALG12 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for ALG12 Gene

Proteins for ALG12 Gene

  • Protein details for ALG12 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9BV10-ALG12_HUMAN
    Recommended name:
    Dol-P-Man:Man(7)GlcNAc(2)-PP-Dol alpha-1,6-mannosyltransferase
    Protein Accession:
    Q9BV10
    Secondary Accessions:
    • A6PWM1
    • Q4KMH4
    • Q8NG10
    • Q96AA4

    Protein attributes for ALG12 Gene

    Size:
    488 amino acids
    Molecular mass:
    54655 Da
    Quaternary structure:
    No Data Available
    SequenceCaution:
    • Sequence=AAM94900.1; Type=Frameshift; Positions=468; Evidence={ECO:0000305};

neXtProt entry for ALG12 Gene

Proteomics data for ALG12 Gene at MOPED

Post-translational modifications for ALG12 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for ALG12 Gene

ENSEMBL proteins:
Reactome Protein details:
REFSEQ proteins:

No data available for DME Specific Peptides for ALG12 Gene

Domains for ALG12 Gene

Gene Families for ALG12 Gene

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

Protein Domains for ALG12 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for ALG12 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q9BV10

UniProtKB/Swiss-Prot:

ALG12_HUMAN :
  • Q9BV10
Family:
  • Belongs to the glycosyltransferase 22 family.
genes like me logo Genes that share domains with ALG12: view

Function for ALG12 Gene

Molecular function for ALG12 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->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->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 + dolichyl phosphate
UniProtKB/Swiss-Prot Function: Adds the eighth mannose residue in an alpha-1,6 linkage onto the dolichol-PP-oligosaccharide precursor (dolichol-PP-Man(7)GlcNAc(2)) required for protein glycosylation

Enzyme Numbers (IUBMB) for ALG12 Gene

Gene Ontology (GO) - Molecular Function for ALG12 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000009 alpha-1,6-mannosyltransferase activity IC 12217961
GO:0000030 mannosyltransferase activity IBA --
GO:0016757 transferase activity, transferring glycosyl groups --
GO:0052917 dol-P-Man:Man(7)GlcNAc(2)-PP-Dol alpha-1,6-mannosyltransferase activity IEA --
genes like me logo Genes that share ontologies with ALG12: view

miRNA for ALG12 Gene

miRTarBase miRNAs that target ALG12

No data available for Phenotypes , Animal Models , Transcription Factor Targeting and HOMER Transcription for ALG12 Gene

Localization for ALG12 Gene

Subcellular locations from UniProtKB/Swiss-Prot for ALG12 Gene

Endoplasmic reticulum membrane; Multi-pass membrane protein.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for ALG12 Gene COMPARTMENTS Subcellular localization image for ALG12 gene
Compartment Confidence
endoplasmic reticulum 5
plasma membrane 3

Gene Ontology (GO) - Cellular Components for ALG12 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005783 endoplasmic reticulum NAS 12217961
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 ALG12: view

Pathways for ALG12 Gene

genes like me logo Genes that share pathways with ALG12: view

UniProtKB/Swiss-Prot Q9BV10-ALG12_HUMAN

  • Pathway: Protein modification; protein glycosylation

Gene Ontology (GO) - Biological Process for ALG12 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006457 protein folding NAS 12217961
GO:0006487 protein N-linked glycosylation IGI 12217961
GO:0006488 dolichol-linked oligosaccharide biosynthetic process TAS --
GO:0018279 protein N-linked glycosylation via asparagine TAS --
GO:0043687 post-translational protein modification TAS --
genes like me logo Genes that share ontologies with ALG12: view

Transcripts for ALG12 Gene

Unigene Clusters for ALG12 Gene

ALG12, alpha-1,6-mannosyltransferase:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for ALG12 Gene

ExUns: 1a · 1b ^ 2 ^ 3 ^ 4a · 4b ^ 5a · 5b ^ 6a · 6b ^ 7 ^ 8a · 8b · 8c ^ 9 ^ 10
SP1: -
SP2:
SP3:
SP4:
SP5:
SP6:

Relevant External Links for ALG12 Gene

GeneLoc Exon Structure for
ALG12
ECgene alternative splicing isoforms for
ALG12

Expression for ALG12 Gene

mRNA expression in normal human tissues for ALG12 Gene

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, MOPED, and MaxQB for ALG12 Gene

SOURCE GeneReport for Unigene cluster for ALG12 Gene Hs.526711

mRNA Expression by UniProt/SwissProt for ALG12 Gene

Q9BV10-ALG12_HUMAN
Tissue specificity: Expressed in fibroblasts
genes like me logo Genes that share expressions with ALG12: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery and mRNA differential expression in normal tissues for ALG12 Gene

Orthologs for ALG12 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for ALG12 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia ALG12 35
  • 98.84 (n)
  • 98.16 (a)
ALG12 36
  • 98 (a)
OneToOne
cow
(Bos Taurus)
Mammalia ALG12 35
  • 80.84 (n)
  • 80.29 (a)
ALG12 36
  • 80 (a)
OneToOne
dog
(Canis familiaris)
Mammalia ALG12 35
  • 81.97 (n)
  • 80.53 (a)
ALG12 36
  • 80 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Alg12 35
  • 80 (n)
  • 79.59 (a)
Alg12 16
Alg12 36
  • 80 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia ALG12 36
  • 64 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Alg12 35
  • 79.15 (n)
  • 79.84 (a)
chicken
(Gallus gallus)
Aves ALG12 35
  • 63.92 (n)
  • 67.63 (a)
ALG12 36
  • 69 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia ALG12 36
  • 67 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia alg12 35
  • 61.73 (n)
  • 64.4 (a)
Str.4593 35
zebrafish
(Danio rerio)
Actinopterygii alg12 35
  • 61.23 (n)
  • 60.52 (a)
alg12 36
  • 58 (a)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP000102 35
  • 55.17 (n)
  • 47.84 (a)
fruit fly
(Drosophila melanogaster)
Insecta CG8412 35
  • 55.45 (n)
  • 51.68 (a)
CG8412 36
  • 32 (a)
OneToOne
worm
(Caenorhabditis elegans)
Secernentea CELE_ZC513.5 35
  • 46.88 (n)
  • 40.89 (a)
ZC513.5 36
  • 35 (a)
OneToOne
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes ALG12 36
  • 30 (a)
OneToOne
ALG12 38
thale cress
(Arabidopsis thaliana)
eudicotyledons ALG12 35
  • 48.88 (n)
  • 44.14 (a)
rice
(Oryza sativa)
Liliopsida Os.38153 35
Os04g0544900 35
  • 49.59 (n)
  • 45.02 (a)
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.578 35
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 46 (a)
OneToOne
Species with no ortholog for ALG12:
  • A. gosspyii yeast (Ashbya gossypii)
  • 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)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • oppossum (Monodelphis domestica)
  • 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 ALG12 Gene

ENSEMBL:
Gene Tree for ALG12 (if available)
TreeFam:
Gene Tree for ALG12 (if available)

Paralogs for ALG12 Gene

No data available for Paralogs for ALG12 Gene

Variants for ALG12 Gene

Sequence variations from dbSNP and Humsavar for ALG12 Gene

SNP ID Clin Chr 22 pos Sequence Context AA Info Type MAF
rs1321 -- 49,903,787(-) TTATC(A/G)CTACC utr-variant-3-prime
rs16445 -- 49,903,387(+) CTCCC(-/CT)GAGAG utr-variant-3-prime
rs1140496 -- 49,903,391(-) CCCCT(C/T)TCAGG utr-variant-3-prime
rs3883952 -- 49,915,587(-) TTTTT(A/T)AAttt intron-variant
rs3922872 Benign, - 49,904,240(+) GTCAA(C/T)GTGCA reference, missense

Structural Variations from Database of Genomic Variants (DGV) for ALG12 Gene

Variant ID Type Subtype PubMed ID
dgv5046n71 CNV Loss 21882294
nsv915495 CNV Loss 21882294
dgv5049n71 CNV Loss 21882294
nsv471221 CNV Loss 18288195
nsv915506 CNV Loss 21882294
dgv5050n71 CNV Loss 21882294
nsv915508 CNV Loss 21882294
nsv915512 CNV Gain 21882294
dgv5051n71 CNV Loss 21882294
esv2724720 CNV Deletion 23290073
esv2724721 CNV Deletion 23290073
esv2669119 CNV Deletion 23128226

Relevant External Links for ALG12 Gene

HapMap Linkage Disequilibrium report
ALG12
Human Gene Mutation Database (HGMD)
ALG12
Locus Specific Mutation Databases (LSDB)
ALG12

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for ALG12 Gene

Disorders for ALG12 Gene

(1) OMIM Diseases for ALG12 Gene (607144)

UniProtKB/Swiss-Prot

ALG12_HUMAN
  • Congenital disorder of glycosylation 1G (CDG1G) [MIM:607143]: 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:11983712, ECO:0000269 PubMed:12736397, ECO:0000269 PubMed:17506107}. Note=The disease is caused by mutations affecting the gene represented in this entry.

(1) University of Copenhagen DISEASES for ALG12 Gene

Relevant External Links for ALG12

GeneTests
ALG12
GeneReviews
ALG12
genes like me logo Genes that share disorders with ALG12: view

Publications for ALG12 Gene

  1. ALG12 mannosyltransferase defect in congenital disorder of glycosylation type Ig. (PMID: 12217961) Grubenmann C.E. … Hennet T. (Hum. Mol. Genet. 2002) 3 4 23
  2. Congenital disorders of glycosylation type Ig is defined by a deficiency in dolichyl-P-mannose:Man7GlcNAc2-PP-dolichyl mannosyltransferase. (PMID: 11983712) Chantret I. … Moore S.E.H. (J. Biol. Chem. 2002) 2 3 4
  3. Deficiency of dolichyl-P-Man:Man7GlcNAc2-PP-dolichyl mannosyltransferase causes congenital disorder of glycosylation type Ig. (PMID: 12093361) Thiel C. … Koerner C. (Biochem. J. 2002) 3 4
  4. Abnormal glycosylation of red cell membrane band 3 in the congenital disorder of glycosylation Ig. (PMID: 12736397) Zdebska E. … Delaunay J. (Pediatr. Res. 2003) 3 4
  5. The DNA sequence of human chromosome 22. (PMID: 10591208) Dunham I. … Wright H. (Nature 1999) 3 4

Products for ALG12 Gene

Sources for ALG12 Gene

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