Property Summary

NCBI Gene PubMed Count 19
Grant Count 89
R01 Count 48
Funding $8,950,205.97
PubMed Score 54.02
PubTator Score 42.03

Knowledge Summary

Patent

No data available

Expression

  Differential Expression (2)

Disease log2 FC p
intraductal papillary-mucinous adenoma (... 1.100 0.004
active Crohn's disease 1.200 0.006

Synonym

Accession Q9BT22 B4DP08 Q6UVZ9 Q8N5Y4 Q9P2Y2
Symbols HMT1
MT-1
CDG1K
HMAT1
HMT-1
Mat-1
hMat-1

Gene

PANTHER Protein Class (2)

Gene RIF (5)

PMID Text
25649379 In title.
24157261 Was detected in the patient's ALG1-coding sequence.
22966035 Family study defining the phenotype of deficiency of beta-1,4 mannosyltransferase (MT-1) congenital disorder of glycosylation (CDG), due to ALG1 gene mutations. Four novel ALG1 mutations were identified.
20679665 DNA sequencing of ALG1 revealed nine different mutations, seven of which have not been previously reported. Clinical presentations of deficiency are severe, with dysmorphias, CNS involvement and ocular disturbances
20379614 Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)

AA Sequence

MAASCLVLLALCLLLPLLLLGGWKRWRRGRAARHVVAVVLGDVGRSPRMQYHALSLAMHGFSVTLLGFCN      1 - 70
SKPHDELLQNNRIQIVGLTELQSLAVGPRVFQYGVKVVLQAMYLLWKLMWREPGAYIFLQNPPGLPSIAV     71 - 140
CWFVGCLCGSKLVIDWHNYGYSIMGLVHGPNHPLVLLAKWYEKFFGRLSHLNLCVTNAMREDLADNWHIR    141 - 210
AVTVYDKPASFFKETPLDLQHRLFMKLGSMHSPFRARSEPEDPVTERSAFTERDAGSGLVTRLRERPALL    211 - 280
VSSTSWTEDEDFSILLAALEKFEQLTLDGHNLPSLVCVITGKGPLREYYSRLIHQKHFQHIQVCTPWLEA    281 - 350
EDYPLLLGSADLGVCLHTSSSGLDLPMKVVDMFGCCLPVCAVNFKCLHELVKHEENGLVFEDSEELAAQL    351 - 420
QMLFSNFPDPAGKLNQFRKNLRESQQLRWDESWVQTVLPLVMDT                              421 - 464
//

Text Mined References (23)

PMID Year Title
26931382 2016 ALG1-CDG: Clinical and Molecular Characterization of 39 Unreported Patients.
25649379 2015 Clinical utility gene card for: ALG1 defective congenital disorder of glycosylation.
24157261 2014 ALG1-CDG: a new case with early fatal outcome.
23186163 2013 Toward a comprehensive characterization of a human cancer cell phosphoproteome.
22966035 2012 Defining the phenotype in congenital disorder of glycosylation due to ALG1 mutations.
22359512 2012 Genome-wide association study identifies novel loci associated with circulating phospho- and sphingolipid concentrations.
21269460 2011 Initial characterization of the human central proteome.
20679665 2010 Guanosine diphosphate-mannose:GlcNAc2-PP-dolichol mannosyltransferase deficiency (congenital disorders of glycosylation type Ik): five new patients and seven novel mutations.
20379614 Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
19946888 2010 Defining the membrane proteome of NK cells.
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