MLL1

GPTKB entity

Statements (56)
Predicate Object
gptkbp:instanceOf gptkb:protein
gptkb:gene
gptkbp:alternativeName gptkb:HRX
ALL-1
TRX2
Myeloid/lymphoid or mixed-lineage leukemia protein 1
gptkbp:amendedBy histone H3 lysine 4 (H3K4)
gptkbp:associatedWith gptkb:acute_myeloid_leukemia
leukemia
gptkbp:domain SET domain
CXXC domain
FYRC domain
FYRN domain
PHD finger
AT hook
gptkbp:Entrez_Gene_ID 4297
gptkbp:enzymeCommissionNumber 2.1.1.354
gptkbp:expressedIn gptkb:nucleus
gptkbp:formsFusionGeneWith gptkb:ENL
gptkb:CBP
gptkb:ELL
AF4
AF10
AF6
AF9
Septin 6
gptkbp:fullName Mixed-lineage leukemia protein 1
gptkbp:function regulation of gene expression
histone methyltransferase
gptkbp:gene gptkb:KMT2A
MLL
gptkbp:HGNC_ID 7132
https://www.w3.org/2000/01/rdf-schema#label MLL1
gptkbp:interactsWith gptkb:ASH2L
gptkb:DPY30
gptkb:RBBP5
gptkb:WDR5
gptkb:MEN1
gptkbp:involvedIn embryonic development
hematopoiesis
transcriptional regulation
gptkbp:locatedOnChromosome gptkb:11q23
chromosome 11
gptkbp:mutationAssociatedWith leukemia
translocation
deletion
point mutation
gptkbp:OMIM 159555
gptkbp:orthologInMouse Mll1
gptkbp:UniProtID Q03164
gptkbp:bfsParent gptkb:ASH2L
gptkb:RBBP5
gptkb:WDR5
gptkb:Trithorax-group_(TrxG)_protein_family
gptkb:Trithorax-group_proteins
gptkbp:bfsLayer 8