|
gptkbp:instanceOf
|
gptkb:gene
|
|
gptkbp:alias
|
gptkb:CRC
gptkb:COCA1
hMLH1
|
|
gptkbp:alternativeSplicing
|
yes
|
|
gptkbp:associatedWith
|
gptkb:cancer
gptkb:Lynch_syndrome
gptkb:hereditary_nonpolyposis_colorectal_cancer
gptkb:endometrial_cancer
colorectal cancer
small intestine cancer
gastric cancer
|
|
gptkbp:clinicalTrialPhase
|
genetic testing for Lynch syndrome
|
|
gptkbp:conservedIn
|
MutL central domain
|
|
gptkbp:discoveredBy
|
Richard D. Kolodner
|
|
gptkbp:encodes
|
gptkb:DNA_mismatch_repair_protein_MLH1
|
|
gptkbp:Entrez_Gene_ID
|
4292
|
|
gptkbp:expressedIn
|
gptkb:endometrium
gptkb:testis
colon
|
|
gptkbp:fullName
|
MutL homolog 1
|
|
gptkbp:function
|
DNA mismatch repair
|
|
gptkbp:geneType
|
protein-coding
|
|
gptkbp:GO
|
GO:0006298
|
|
gptkbp:HGNC_ID
|
7127
|
|
gptkbp:interactsWith
|
gptkb:MSH2
gptkb:PMS2
gptkb:EXO1
|
|
gptkbp:length
|
756 amino acids
|
|
gptkbp:locatedOnChromosome
|
gptkb:chromosome_3
3p22.2
|
|
gptkbp:molecularWeight
|
84 kDa
|
|
gptkbp:mutationAssociatedWith
|
nonsense
missense
increased cancer risk
frameshift
splice site
|
|
gptkbp:OMIM
|
120436
|
|
gptkbp:organism
|
gptkb:Homo_sapiens
|
|
gptkbp:orthologIn
|
gptkb:Mus_musculus
gptkb:Drosophila_melanogaster
|
|
gptkbp:pathway
|
gptkb:DNA_repair_pathway
|
|
gptkbp:PDB
|
3NA3
|
|
gptkbp:proteinFamily
|
MutL family
|
|
gptkbp:regulates
|
epigenetic silencing
promoter methylation
|
|
gptkbp:UniProtID
|
P40692
|
|
gptkbp:bfsParent
|
gptkb:MLH1
gptkb:MLH1_gene
|
|
gptkbp:bfsLayer
|
8
|
|
https://www.w3.org/2000/01/rdf-schema#label
|
Mlh1
|