Mll1
Gene Detail

Symbol Name ID

Mll1 myeloid/lymphoid or mixed-lineage leukemia 1 MGI:96995

Synonyms

All1, ALL-1, Cxxc7, HTRX1, KMT2A, Mll, trithorax Drosophila

Feature Type

protein coding gene

Genetic Map

Chromosome 9

24.84 cM
Detailed Genetic Map ± 1 cM


Mapping data(4)

Sequence Map

Chr9:44803355-44881296 bp, - strand From VEGA annotation of GRCm38   77942 bp   ±  kb flank VEGA Genome Browser | Ensembl Genome Browser | UCSC Browser | NCBI Map Viewer

Mouse Genome Browser

Vertebrate homology

HomoloGene:4338  Vertebrate Homology Class
1 human; 1 mouse; 1 rat; 1 chimpanzee; 1 rhesus macaque; 1 dog; 1 chicken; 1 zebrafish

Protein SuperFamily: protein methyltransferase, trithorax protein type
Gene Tree: Mll1

Human homologs

Human Homolog		MLL, myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila)
NCBI Gene ID		4297
neXtProt AC		NX_Q03164
Human Synonyms		ALL-1, CXXC7, HRX, HTRX1, KMT2A, MLL1A, MLL/GAS7, TET1-MLL, TRX1, WDSTS
Human Chr (Location)		11q23; chr11:118307205-118397539 (+)  GRCh37.p10
Disease Associations		(2) Diseases Associated with Human MLL

Alleles and phenotypes

All alleles(26) : Targeted(18) Gene trapped(8)
 

Homozygotes for targeted null mutations die at embryonic day 11.5-14.5 with edematous bodies, petechiae, and hematopoietic insufficiency. Heterozygotes show reduced growth, hematopoietic abnormalities, and homeotic transformations of the axial skeleton.

 
Human Diseases Modeled Using Mouse Mll1 (2)    Alleles Annotated to Human Diseases(3)    Phenotype Images(2)

Gene Ontology (GO) classifications

All GO classifications: (40 annotations)

Process	anterior/posterior pattern specification, chromatin modification, ...
Component	histone methyltransferase complex, MLL1 complex, ...
Function	chromatin binding, DNA binding, ...

External Resources: FuncBase

Expression

Literature Summary: (10 records)
Data Summary: Results (148)    Tissues (144)    Images (8)
Theiler Stages: 17, 21, 22, 23, 24, 26, 28

Assay Type	Results
RNA in situ	148

cDNA source data(150)
External Resources: Allen Institute   GEO   ArrayExpress

Molecular reagents

All nucleic(157) Genomic(3) cDNA(152) Primer pair(2)
Microarray probesets(5)

Other database links

VEGA Gene Model	OTTMUSG00000021055 (Evidence)
Ensembl Gene Model	ENSMUSG00000002028 (Evidence)
Entrez Gene	214162 (Evidence)
UniGene	2389
DFCI	TC1601045, TC1601677, TC1625385, TC1652043, TC1716680
DoTS	DT.101248196, DT.493452, DT.97368145
NIA Mouse Gene Index	U030785
EC	2.1.1.43
Consensus CDS Project	CCDS40603.1
International Mouse Knockout Project Status	Mll1

Sequences

Length	Strain/Species
genomic	OTTMUSG00000021055	VEGA Gene Model | MGI Sequence Detail	77942	C57BL/6J
transcript	OTTMUST00000049805	VEGA | MGI Sequence Detail	16470	Not Applicable
polypeptide	OTTMUSP00000023134	VEGA | MGI Sequence Detail	3966	Not Applicable

All sequences(45) RefSeq(2) UniProt(4)

Polymorphisms

RFLP(1) : SNPs(489 from dbSNP Build 128)

Protein-related information

Resource	ID	Description
InterPro	IPR017956	AT hook, DNA-binding motif
InterPro	IPR001487	Bromodomain
InterPro	IPR003889	FY-rich, C-terminal
InterPro	IPR003888	FY-rich, N-terminal
InterPro	IPR016569	Methyltransferase, trithorax
InterPro	IPR003616	Post-SET domain
InterPro	IPR001214	SET domain
InterPro	IPR002857	Zinc finger, CXXC-type
InterPro	IPR011011	Zinc finger, FYVE/PHD-type
InterPro	IPR019787	Zinc finger, PHD-finger
InterPro	IPR001965	Zinc finger, PHD-type
InterPro	IPR019786	Zinc finger, PHD-type, conserved site
InterPro	IPR013083	Zinc finger, RING/FYVE/PHD-type
Protein Ontology	PR:000010445	histone-lysine N-methyltransferase HRX

References

(Earliest) J:34109 Tkachuk DC, et al., Involvement of a homolog of Drosophila trithorax by 11q23 chromosomal translocations in acute leukemias. Cell. 1992 Nov 13;71(4):691-700
(Latest) J:189329 Takacova S, et al., DNA damage response and inflammatory signaling limit the MLL-ENL-induced leukemogenesis in vivo. Cancer Cell. 2012 Apr 17;21(4):517-31
All references(99)

Other accession IDs

MGD-MRK-12254, MGD-MRK-1281