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  5. Alpha-1,2-mannosyltransferase ALG9

Tbio Alpha-1,2-mannosyltransferase ALG9

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

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]

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Property Summary

NCBI Gene PubMed Count 18
PubMed Score 0.71
PubTator Score 16.27

Knowledge Summary

Patent

No data available

TINX Plot

  Disease Sources (5)

Disease Target Count P-value
ovarian cancer 8492 3.06252547020301E-7
osteosarcoma 7933 2.78318164259897E-5
group 3 medulloblastoma 2254 9.89353389373913E-4
invasive ductal carcinoma 2950 0.0122296991112029
subependymal giant cell astrocytoma 2287 0.0148133378833951
pancreatic ductal adenocarcinoma liver metastasis 1795 0.024859941376134
Disease Target Count Z-score Confidence
Congenital disorder of glycosylation 53 4.166 2.1

Expression

  Differential Expression (6)

Disease log2 FC p
osteosarcoma -2.102 0.000
pancreatic ductal adenocarcinoma liver m... -1.083 0.025
group 3 medulloblastoma 1.200 0.001
subependymal giant cell astrocytoma -1.068 0.015
invasive ductal carcinoma -1.100 0.012
ovarian cancer -1.800 0.000

Synonym

Accession Q9H6U8 Q6ZMD5 Q7Z4R4 Q96GS7 Q96PB9 Q9H068
Symbols CDG1L
DIBD1
GIKANIS
LOH11CR1J

Gene

ALG9

PANTHER Protein Class (2)

 GO Function (4)

 GO Component (4)

 GO Process (2)

 Compartment GO Term (22)

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 OMIM Term (2)

 HCA RNA Cell Line (56)

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Pathway (8)

 UniProt Keyword (14)

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Gene RIF (3)

PMID Text
25966638 Our study shows that some pathogenic variants in ALG9 can present as a lethal skeletal dysplasia with visceral malformations as the most severe phenotype
19451548 Due to the ALG9 deficiency, cells accumulated the lipid-linked oligosaccharides Man(6)GlcNAc(2)-PP-dolichol and Man(8)GlcNAc(2)-PP-dolichol.
16859551 Observational study of gene-disease association. (HuGE Navigator)

AA Sequence 

MASRGARQRLKGSGASSGDTAPAADKLRELLGSREAGGAEHRTELSGNKAGQVWAPEGSTAFKCLLSARL      1 - 70
CAALLSNISDCDETFNYWEPTHYLIYGEGFQTWEYSPAYAIRSYAYLLLHAWPAAFHARILQTNKILVFY     71 - 140
FLRCLLAFVSCICELYFYKAVCKKFGLHVSRMMLAFLVLSTGMFCSSSAFLPSSFCMYTTLIAMTGWYMD    141 - 210
KTSIAVLGVAAGAILGWPFSAALGLPIAFDLLVMKHRWKSFFHWSLMALILFLVPVVVIDSYYYGKLVIA    211 - 280
PLNIVLYNVFTPHGPDLYGTEPWYFYLINGFLNFNVAFALALLVLPLTSLMEYLLQRFHVQNLGHPYWLT    281 - 350
LAPMYIWFIIFFIQPHKEERFLFPVYPLICLCGAVALSALQKCYHFVFQRYRLEHYTVTSNWLALGTVFL    351 - 420
FGLLSFSRSVALFRGYHGPLDLYPEFYRIATDPTIHTVPEGRPVNVCVGKEWYRFPSSFLLPDNWQLQFI    421 - 490
PSEFRGQLPKPFAEGPLATRIVPTDMNDQNLEEPSRYIDISKCHYLVDLDTMRETPREPKYSSNKEEWIS    491 - 560
LAYRPFLDASRSSKLLRAFYVPFLSDQYTVYVNYTILKPRKAKQIRKKSGG                       561 - 611
//

Text Mined References (17)

PMID Year Title
26871637 2016 Widespread Expansion of Protein Interaction Capabilities by Alternative Splicing.
25966638 2016 A novel phenotype in N-glycosylation disorders: Gillessen-Kaesbach-Nishimura skeletal dysplasia due to pathogenic variants in ALG9.
19946888 2010 Defining the membrane proteome of NK cells.
19451548 2009 Quality control of glycoproteins bearing truncated glycans in an ALG9-defective (CDG-IL) patient.
16859551 2006 Common variations in ALG9 are not associated with bipolar I disorder: a family-based study.
16381901 2006 The LIFEdb database in 2006.
16344560 2006 Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes.
15945070 2005 CDG-IL: an infant with a novel mutation in the ALG9 gene and additional phenotypic features.
15489336 2004 From ORFeome to biology: a functional genomics pipeline.
15489334 2004 The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
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