|
gptkbp:instanceOf
|
gptkb:gene
|
|
gptkbp:alternativeSplicing
|
yes
|
|
gptkbp:associatedWith
|
gptkb:cancer
gptkb:Lynch_syndrome
gptkb:hereditary_nonpolyposis_colorectal_cancer
gptkb:endometrial_cancer
gastric cancer
sebaceous skin tumors
|
|
gptkbp:biologicalProcess
|
DNA binding
ATPase activity
forms heterodimer with PMS2
|
|
gptkbp:discoveredIn
|
1993
|
|
gptkbp:encodes
|
MutL homolog 1 protein
|
|
gptkbp:Entrez_Gene_ID
|
4292
|
|
gptkbp:expressedIn
|
various tissues
|
|
gptkbp:geneType
|
protein-coding
|
|
gptkbp:hasTranscriptVariant
|
multiple
|
|
gptkbp:HGNC_ID
|
7127
|
|
https://www.w3.org/2000/01/rdf-schema#label
|
MLH1 gene
|
|
gptkbp:interactsWith
|
gptkb:MSH2
gptkb:MSH6
gptkb:PMS2
gptkb:Request_for_Comments
gptkb:MLH3
gptkb:MSH3
gptkb:PCNA
gptkb:EXO1
gptkb:DNA_polymerase_delta
PMS1
|
|
gptkbp:involvedIn
|
DNA mismatch repair
|
|
gptkbp:length
|
756 amino acids
57,000 base pairs (approximate)
|
|
gptkbp:locatedOnChromosome
|
gptkb:chromosome_3
3p22.2
|
|
gptkbp:methylationStatus
|
promoter hypermethylation leads to gene silencing
|
|
gptkbp:mutationAssociatedWith
|
nonsense
missense
increased cancer risk
frameshift
splice site
|
|
gptkbp:OMIM
|
120436
|
|
gptkbp:orthologInC._elegans
|
mlh-1
|
|
gptkbp:orthologInDrosophila
|
gptkb:Mlh1
|
|
gptkbp:orthologInMouse
|
gptkb:Mlh1
|
|
gptkbp:orthologInYeast
|
gptkb:MLH1
|
|
gptkbp:pathway
|
Mismatch repair pathway
Cell cycle regulation
|
|
gptkbp:proteinFamily
|
ATPase domain
MutL domain
|
|
gptkbp:UniProtID
|
P40692
|
|
gptkbp:bfsParent
|
gptkb:DNA_mismatch_repair_protein_MLH1
gptkb:Turcot_syndrome
|
|
gptkbp:bfsLayer
|
7
|