MLLT1 - MLLT1 super elongation complex subunit Gene

Also Known as ENL; LTG19; YEATS1

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 4298

About MLLT1

Cytogenetic location: 19p13.3 Genomic coordinates (GRCh38): 19:6,210,381-6,279,975 (from NCBI)

This gene has 3 transcripts (splice variants), 222 orthologues, 2 paralogues and is associated with 62 phenotypes. Ubiquitous expression in placenta (RPKM 30.6), ovary (RPKM 14.0) and 25 other tissues.

Summary

Predicted to be involved in regulation of transcription, DNA-templated. Predicted to act upstream of or within negative regulation of protein kinase activity. Located in cytosol; fibrillar center; and nucleoplasm. Part of transcription elongation factor complex. [provided by Alliance of Genome Resources, Apr 2022]

MLLT1 Products (1)

mRNA	Protein	Name
NM_005934.4	NP_005925.2	protein ENL

Gene Ontology

Molecular Function
Cellular Component

Molecular Function GO Annotation	Evidence	References	Source
enables protein binding	IPI IPI: Inferred from physical interaction	20153263	GOA

Cellular Component GO Annotation	Evidence	References	Source
part of transcription elongation factor complex	IDA IDA: Inferred from direct assay	22195968	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

MLLT1 Protein Structure

YEATS

0
100
200
300
400
500
559 a.a.

Protein Preferred Names	Protein Names
protein ENL	CTC-503J8.6

MLLT1 Protein-protein interaction Information

Type	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	References
Intra	MLLT1	Q03111	DOT1L	Homo sapiens	Q8TEK3	Anti Tag CoIP	20153263
Intra	MLLT1	Q03111	DOT1L	Homo sapiens	Q8TEK3	Anti Tag CoIP	20203130
Intra	MLLT1	Q03111	YIF1A	Homo sapiens	O95070	Y2H Array	32296183
Intra	MLLT1	Q03111	YIF1A	Homo sapiens	O95070	Y2H Prey Pooling	32296183
Intra	MLLT1	Q03111	AFF4	Homo sapiens	Q9UHB7	Anti Bait CoIP	20153263
Intra	MLLT1	Q03111	AFF4	Homo sapiens	Q9UHB7	Anti Tag CoIP	20153263
Intra	MLLT1	Q03111	AFF4	Homo sapiens	Q9UHB7	Anti Tag CoIP	33961781

Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases	Alias
Cerebral Atrophy
Borderline Leprosy	Midborderline Leprosy Borderline Or Dimorphous Leprosy Leprosy, Borderline
Hypertelorism	Eyes Wide Apart Eyes Widely Set Hypertelorism Of Orbit Ocular Hypertelorism Orbital Separation Excessive
Leukemia	Leukemias Leukaemia, Unspecified, Without Mention Of Remission Aleukemic Leukaemia Chronic Leukaemia Subacute Leukaemia Leukaemia Disorder Leukaemia Nos
West Syndrome	Infantile Spasms Infantile Spasms Syndrome Infantile Spasm X-Linked Infantile Spasm Syndrome X-Linked Infantile Spasms Epileptic Encephalopathy, Early Infantile, 1 Is Tonic Spasms With Clustering, Arrest Of Psychomotor Development And Hypsarrhythmia On Eeg West'S Syndrome Spasms, Infantile Is -[Infantile Spasm] Salaam Spasm Salaam Tic
Acute Leukemia	Stem Cell Leukaemia Stem Cell Leukemia Acute Leukemias Acute Undifferentiated Leukemia Undifferentiated Leukemia Acute Leukaemia Of Unspecified Cell Type Without Mention Of Remission Blast Cell Leukaemia Blast Leukaemia Blastic Leukaemia Undifferentiated Leukaemia
Hypotonia
Leprosy 3	Leprosy Leprosy, Susceptibility To, 3 Hansen'S Disease Leprosy, Susceptibility To Hansen Disease Infection Due To Mycobacterium Leprae LPRS3 Leprosy, Type 3 Anaesthesia Leprosy Anaesthetic Leprosy Maculoanaesthetic Leprosy Macular Leprosy Leprosy Unspecified
Coffin-Siris Syndrome 4	CSS4 Mrd16 Mental Retardation, Autosomal Dominant 16 Autosomal Dominant Mental Retardation 16 Coffin-Siris Syndrome, Type 4
Myeloid Leukemia	Myeloid Leukaemia Leukaemia Myelogenous Leukemia Myelogenous Myeloid Granulocytic Leukaemia Myeloid Granulocytic Leukemia Non-Lymphocytic Leukemia Leukemia, Myeloid Granulocytic Leukaemia Myelogenous Leukaemia Myeloid Leukaemia, Unspecified, Without Mention Of Remission
Ureteral Lymphoma	Lymphoma Of Ureter Ureter Lymphoma
Paranasal Sinus Lymphoma	Lymphoma Of Accessory Sinus Lymphoma Of Paranasal Sinus
Lepromatous Leprosy	Leprosy, Lepromatous Type L Leprosy Leprosy Lepromatous
Childhood Leukemia
Chronic Dacryocystitis
Neonatal Leukemia
Tuberculoid Leprosy	Smooth Leprosy Type T Leprosy Leprosy Tuberculoid Leprosy, Tuberculoid
Macular Dystrophy, Patterned, 3	Martinique Crinkled Retinal Pigment Epitheliopathy Patterned Macular Dystrophy 3 MDPT3 Mcrpe
Acute Biphenotypic Leukemia	Mixed Phenotype Acute Leukemia Acute Leukemia Of Ambiguous Lineage Acute Undifferentiated Leukemia Acute Leukemia Of Indeterminate Lineage Hybrid Acute Leukemia Mixed Lineage Acute Leukemia All With Myeloid Markers Aml With Lymphoid Markers Acute Leukemia Of Undetermined Lineage Bal Biphenotypic Acute Leukemia Undifferentiated Acute Leukemia Mpal Acute Myeloid Leukemia, Minimal Differentiation, Fab M0 Leukemia, Biphenotypic, Acute
Leukemia, Acute Myeloid	Acute Myeloid Leukemia Leukemia, Acute Myelogenous Acute Myelogenous Leukemia AML Leukemia, Acute Myeloid, Susceptibility To Acute Myeloblastic Leukemia Leukemia, Acute Myeloid, Reduced Survival In, Somatic Acute Myeloid Leukaemia Leukemia, Myelocytic, Acute Therapy Related Acute Myeloid Leukemia And Myelodysplastic Syndrome Secondary Aml Acute Myelocytic Leukemia Acute Myeloid Leukemia, Somatic Leukemia, Acute Myeloid, Somatic Myeloid Leukemia, Acute, M4/M4eo Subtype, Somatic Acute Myeloblastic Leukaemia Acute Myelogenous Leukaemia Aml - Acute Myeloid Leukemia Acute Myeloid Leukemia With Cebpa Somatic Mutations Aml With Cebpa Somatic Mutations Inherited Acute Myeloid Leukemia Familial Aml Inherited Aml Pure Familial Aml Pure Familial Acute Myeloid Leukemia Secondary Acute Myeloid Leukemia Therapy-Related Aml And Myelodysplastic Syndrome Acute Myeloid Leukemia, Secondary Acute Non-Lymphoblastic Leukemia Acute Non-Lymphocytic Leukemia Acute Biphenotypic Leukemia Acute Undifferentiated Leukemia Acute Myeloblastic Leukaemia With Multilineage Dysplasia Acute Myeloid Leukaemia With Multilineage Dysplasia Without Mention Of Remission Acute Myeloid Leukaemia With Myelodysplasia-Related Features
Acute Promyelocytic Leukemia	Leukemia, Acute Promyelocytic Acute Myeloblastic Leukemia Type 3 Aml M3 APL Leukemia, Acute Promyelocytic, Somatic Aml With T(15 17)(Q22 Q12) (Pml/Raralpha) And Variants Apml Acute Myeloblastic Leukemia 3 Acute Myeloid Leukemia With T(15 17)(Q22 Q12) (Pml/Raralpha) And Variants Acute Myeloblastic Leukaemia Type 3 Acute Myeloid Leukaemia M3 Acute Myeloid Leukemia M3 Acute Promyelocytic Leukaemia M3 Anll Myeloid Leukemia, Acute, M3 Leukemia Promyelocytic Acute Leukemia, Promyelocytic, Acute Leukemia, Acute, Promyelocytic

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (7)

Cat. No.	상품명	효과	Purity	Rare Diseases
HY-112804	SGC-iMLLT	Inhibitor	99.33%	Unkown
HY-155412	PFI-6		99.91%	Unkown
HY-160287	NVS MLLT-1	Inhibitor	99.79%	Unkown
HY-181834	PROTAC MLLT1 Degrader-1	Degrader	/	Unkown
HY-184342	SYC-2863		/	Unkown
HY-RS08493	MLLT1 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-176821	PFI-6N		/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Felis catus	MLLT1	VGNC	VGNC:68270
Bos taurus	MLLT1	VGNC	VGNC:31501
Macaca mulatta	MLLT1	VGNC	VGNC:74881
Rattus norvegicus	MLLT1	RGD	RGD:1588581
Mus musculus	MLLT1	MGD	MGI:1927238
Canis familiaris	MLLT1	VGNC	VGNC:43260
Others	MLLT1	NCBI