Property Summary

NCBI Gene PubMed Count 21
Grant Count 8
R01 Count 8
Funding $737,433.5
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 0.008
atypical teratoid / rhabdoid tumor 1.200 0.000
intraductal papillary-mucinous neoplasm ... 2.100 0.007
lung cancer 1.500 0.011
pilocytic astrocytoma 1.200 0.000
acute myeloid leukemia -1.100 0.020
ovarian cancer 1.600 0.001

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
//

Publication (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).
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