Property Summary

NCBI Gene PubMed Count 21
PubMed Score 25.79
PubTator Score 27.78

Knowledge Summary

Patent

No data available

Expression

  Differential Expression (7)

Disease log2 FC p
glioblastoma 1.600 8.4e-03
atypical teratoid / rhabdoid tumor 1.200 1.5e-07
intraductal papillary-mucinous neoplasm ... 2.100 7.0e-03
lung cancer 1.500 1.1e-02
pilocytic astrocytoma 1.200 3.8e-06
acute myeloid leukemia -1.100 2.0e-02
ovarian cancer 1.600 6.3e-04

Protein-protein Interaction (2)

Gene RIF (3)

PMID Text
21899441 Five novel base substitutions in the hALG6 gene were also found: three in exon 5 (c.383T>C, c.390G>A, and c.429G>C) and two in a downstream intervening sequence (IVS5+17C/T and IVS5+34G/A).
16321363 Our findings extend the causes of CDG to larger DNA deletions and identify the first Japanese CDG-Ic mutation.
11875054 A frequent mild mutation in ALG6 may exacerbate the clinical severity of patients with congenital disorder of glycosylation Ia (CDG-Ia) caused by phosphomannomutase deficiency.

AA Sequence

MEKWYLMTVVVLIGLTVRWTVSLNSYSGAGKPPMFGDYEAQRHWQEITFNLPVKQWYFNSSDNNLQYWGL      1 - 70
DYPPLTAYHSLLCAYVAKFINPDWIALHTSRGYESQAHKLFMRTTVLIADLLIYIPAVVLYCCCLKEIST     71 - 140
KKKIANALCILLYPGLILIDYGHFQYNSVSLGFALWGVLGISCDCDLLGSLAFCLAINYKQMELYHALPF    141 - 210
FCFLLGKCFKKGLKGKGFVLLVKLACIVVASFVLCWLPFFTEREQTLQVLRRLFPVDRGLFEDKVANIWC    211 - 280
SFNVFLKIKDILPRHIQLIMSFCFTFLSLLPACIKLILQPSSKGFKFTLVSCALSFFLFSFQVHEKSILL    281 - 350
VSLPVCLVLSEIPFMSTWFLLVSTFSMLPLLLKDELLMPSVVTTMAFFIACVTSFSIFEKTSEEELQLKS    351 - 420
FSISVRKYLPCFTFLSRIIQYLFLISVITMVLLTLMTVTLDPPQKLPDLFSVLVCFVSCLNFLFFLVYFN    421 - 490
IIIMWDSKSGRNQKKIS                                                         491 - 507
//

Text Mined References (20)

PMID Year Title
21899441 2012 Frequency Determination of ?-1,3 Glucosyltransferase p.Y131H and p.F304S Polymorphisms in the Croatian Population Revealed Five Novel Single Nucleotide Polymorphisms in the hALG6 Gene.
19946888 2010 Defining the membrane proteome of NK cells.
16710414 2006 The DNA sequence and biological annotation of human chromosome 1.
16321363 2006 Congenital disorder of glycosylation Ic due to a de novo deletion and an hALG-6 mutation.
15489334 2004 The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
14702039 2004 Complete sequencing and characterization of 21,243 full-length human cDNAs.
14517965 2003 Identification of a frequent variant in ALG6, the cause of Congenital Disorder of Glycosylation-Ic.
12878157 2003 Redifferentiation of dedifferentiated chondrocytes and chondrogenesis of human bone marrow stromal cells via chondrosphere formation with expression profiling by large-scale cDNA analysis.
12477932 2002 Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.
12357336 2002 DHPLC analysis as a platform for molecular diagnosis of congenital disorders of glycosylation (CDG).
12200473 2002 Common origin and evolution of glycosyltransferases using Dol-P-monosaccharides as donor substrate.
11875054 2002 A frequent mild mutation in ALG6 may exacerbate the clinical severity of patients with congenital disorder of glycosylation Ia (CDG-Ia) caused by phosphomannomutase deficiency.
11558905 2001 The T911C (F304S) substitution in the human ALG6 gene is a common polymorphism and not a causal mutation of CDG-Ic.
11134235 2001 A broad spectrum of clinical presentations in congenital disorders of glycosylation I: a series of 26 cases.
11106564 2000 Reduced heparan sulfate accumulation in enterocytes contributes to protein-losing enteropathy in a congenital disorder of glycosylation.
10924277 2000 Analysis of multiple mutations in the hALG6 gene in a patient with congenital disorder of glycosylation Ic.
10914684 2000 Multi-allelic origin of congenital disorder of glycosylation (CDG)-Ic.
10359825 1999 A mutation in the human ortholog of the Saccharomyces cerevisiae ALG6 gene causes carbohydrate-deficient glycoprotein syndrome type-Ic.
9789065 1998 Carbohydrate-deficient glycoprotein syndrome type V: deficiency of dolichyl-P-Glc:Man9GlcNAc2-PP-dolichyl glucosyltransferase.
9710431 1998 A novel carbohydrate-deficient glycoprotein syndrome characterized by a deficiency in glucosylation of the dolichol-linked oligosaccharide.