|
gptkbp:instanceOf
|
gptkb:gene
|
|
gptkbp:alternativeSplicing
|
yes
|
|
gptkbp:associatedWith
|
gptkb:Lynch_syndrome
gptkb:hereditary_nonpolyposis_colorectal_cancer
gptkb:endometrial_cancer
|
|
gptkbp:biologicalProcess
|
DNA repair
cell cycle regulation
mismatch repair
ATP binding
protein binding
|
|
gptkbp:clinicalTrialPhase
|
genetic sequencing
immunohistochemistry
|
|
gptkbp:discoveredBy
|
gptkb:Richard_Kolodner
|
|
gptkbp:encodes
|
gptkb:DNA_mismatch_repair_protein_MLH1
|
|
gptkbp:Entrez_Gene_ID
|
4292
ENSG00000076242
|
|
gptkbp:expressedIn
|
gptkb:endometrium
gptkb:cancer
gptkb:kidney
gptkb:testis
brain
liver
spleen
colon
pancreas
|
|
gptkbp:firstDescribed
|
1993
|
|
gptkbp:fullName
|
gptkb:mutL_homolog_1
|
|
gptkbp:function
|
DNA mismatch repair
|
|
gptkbp:HGNC_ID
|
7127
|
|
gptkbp:interactsWith
|
gptkb:MSH2
gptkb:MSH6
gptkb:PMS2
gptkb:MLH3
gptkb:PCNA
gptkb:EXO1
|
|
gptkbp:length
|
756 amino acids
|
|
gptkbp:locatedOnChromosome
|
gptkb:chromosome_3
3p22.2
|
|
gptkbp:methylationStatus
|
hypermethylation leads to gene silencing
|
|
gptkbp:mutationAssociatedWith
|
nonsense
missense
frameshift
splice site
|
|
gptkbp:numberOfExons
|
19
|
|
gptkbp:OMIM
|
120436
|
|
gptkbp:orthologInMouse
|
gptkb:Mlh1
|
|
gptkbp:orthologInYeast
|
gptkb:MLH1
|
|
gptkbp:pathway
|
DNA damage response
Mismatch repair pathway
|
|
gptkbp:proteinFamily
|
gptkb:MutL/HexB_family
|
|
gptkbp:referenceGenome
|
gptkb:GRCh38
|
|
gptkbp:UniProtID
|
P40692
|
|
gptkbp:bfsParent
|
gptkb:chromosome_3
gptkb:HNPCR
gptkb:FANCJ
gptkb:Lynch_syndrome
gptkb:hereditary_nonpolyposis_colorectal_cancer
gptkb:chromosome_3_(human)
|
|
gptkbp:bfsLayer
|
7
|
|
https://www.w3.org/2000/01/rdf-schema#label
|
MLH1
|