MECOM - MDS1 and EVI1 complex locus Gene

Also Known as EVI1; MDS1; KMT8E; PRDM3; RUSAT2; MDS1-EVI1; AML1-EVI-1

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 2122

About MECOM

Cytogenetic location: 3q26.2 Genomic coordinates (GRCh38): 3:169,083,507-169,663,712 (from NCBI)

This gene has 20 transcripts (splice variants), 207 orthologues, 1 paralogue and is associated with 95 phenotypes. Broad expression in stomach (RPKM 15.9), kidney (RPKM 12.6) and 18 other tissues.

Summary

The protein encoded by this gene is a transcriptional regulator and oncoprotein that may be involved in hematopoiesis, Apoptosis, development, and cell differentiation and proliferation. The encoded protein can interact with CTBP1, SMAD3, CREBBP, KAT2B, MAPK8, and MAPK9. This gene can undergo translocation with the AML1 gene, resulting in overexpression of this gene and the onset of leukemia. Several transcript variants encoding a few different isoforms have been found for this gene. [provided by RefSeq, Mar 2011]

MECOM Products (16)

mRNA	Protein	Name
NM_001105077.4	NP_001098547.3	histone-lysine N-methyltransferase MECOM isoform a
NM_001105078.4	NP_001098548.2	histone-lysine N-methyltransferase MECOM isoform b
NM_001163999.2	NP_001157471.1	histone-lysine N-methyltransferase MECOM isoform d
NM_001164000.2	NP_001157472.1	histone-lysine N-methyltransferase MECOM isoform e
NM_001205194.2	NP_001192123.1	histone-lysine N-methyltransferase MECOM isoform b
NM_001366466.2	NP_001353395.1	histone-lysine N-methyltransferase MECOM isoform f
NM_001366467.2	NP_001353396.1	histone-lysine N-methyltransferase MECOM isoform g
NM_001366468.2	NP_001353397.1	histone-lysine N-methyltransferase MECOM isoform g
NM_001366469.2	NP_001353398.1	histone-lysine N-methyltransferase MECOM isoform b
NM_001366470.2	NP_001353399.1	histone-lysine N-methyltransferase MECOM isoform d
NM_001366471.2	NP_001353400.1	histone-lysine N-methyltransferase MECOM isoform e
NM_001366472.2	NP_001353401.1	histone-lysine N-methyltransferase MECOM isoform e
NM_001366473.2	NP_001353402.1	histone-lysine N-methyltransferase MECOM isoform h
NM_001366474.2	NP_001353403.1	histone-lysine N-methyltransferase MECOM isoform i
NM_004991.4	NP_004982.2	histone-lysine N-methyltransferase MECOM isoform c
NM_005241.4	NP_005232.2	histone-lysine N-methyltransferase MECOM isoform b

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	Références	Source
enables DNA-binding transcription factor activity	IDA IDA: Inferred from direct assay	19767769	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	10856240	GOA
NOT enables protein homodimerization activity	IDA IDA: Inferred from direct assay	15897867	GOA
enables protein homodimerization activity	IDA IDA: Inferred from direct assay	15897867	GOA

Biological Process GO Annotation	Evidence	Références	Source
involved in negative regulation of DNA-templated transcription	IDA IDA: Inferred from direct assay	10856240	GOA
involved in negative regulation of JNK cascade	IMP IMP: Inferred from mutant phenotype	10856240	GOA
involved in negative regulation of programmed cell death	IMP IMP: Inferred from mutant phenotype	10856240	GOA
NOT involved in negative regulation of transforming growth factor beta receptor signaling pathway	IDA IDA: Inferred from direct assay	15897867	GOA
involved in positive regulation of DNA-templated transcription	IDA IDA: Inferred from direct assay	11568182	GOA
involved in regulation of cell cycle	IDA IDA: Inferred from direct assay	11568182	GOA

Cellular Component GO Annotation	Evidence	Références	Source
part of histone deacetylase complex	IDA IDA: Inferred from direct assay	11568182	GOA
located in nuclear speck	IDA IDA: Inferred from direct assay	11568182	GOA
located in nucleus	IDA IDA: Inferred from direct assay	15897867	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

MECOM Protein Structure

zf-C2H2

zf-H2C2_2

zf-C2H2

zf-H2C2_2

0
200
400
600
800
1000
1051 a.a.

Protein Preferred Names	Protein Names
histone-lysine N-methyltransferase MECOM	AML1-EVI-1 fusion protein

MECOM Protein-protein interaction Information

Type	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	Références
Intra	MECOM	Q03112	RABGAP1L	Homo sapiens	Q5R372-2	Y2H Array	25814554
Intra	MECOM	Q03112	RABGAP1L	Homo sapiens	Q5R372-2	Lumier	25814554
Intra	MECOM	Q03112	RABGAP1L	Homo sapiens	Q5R372-2	Validated Y2H	25814554
Cross	MECOM	Q03112	Ctbp2	Mus musculus	P56546	Y2H	11328817
Cross	MECOM	Q03112	Ctbp2	Mus musculus	P56546	Anti Tag CoIP	11328817
Cross	MECOM	Q03112	Ctbp2	Mus musculus	P56546	Y2H	17635584
Intra	MECOM	Q03112	UXT	Homo sapiens	Q9UBK9	Y2H	17635584
Intra	MECOM	Q03112	UXT	Homo sapiens	Q9UBK9	Pull Down	17635584
Intra	MECOM	Q03112	RBBP4	Homo sapiens	Q09028	X-Ray Diffraction	30462309
Intra	MECOM	Q03112	RBBP4	Homo sapiens	Q09028	Anti Bait CoIP	30462309
Intra	MECOM	Q03112	FOS	Homo sapiens	P01100	Anti Bait CoIP	22308434

Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases	Alias
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 2	RUSAT2 Radioulnar Synostosis And Amegakaryocytic Thrombocytopenia 2
Radioulnar Synostosis	Radio-Ulnar Synostosis Type 1
Acute Myeloid Leukemia With Inv3(P21;Q26.2) Or T(3;3)(P21;Q26.2)	Aml With Inv(3)(Q21q26.2) Or T(3 3)(Q21 Q26.2) Acute Myeloid Leukemia With Inv(3)(Q21q26.2) Or T(3 3)(Q21 Q26.2) Aml With Inv3(P21 Q26.2) Or T(3 3)(P21 Q26.2) Aml With Inv3(Q21 Q26.2) Or T(3 3)(Q21 Q26.2) Acute Myeloid Leukemia With Inv3(Q21 Q26.2) Or T(3 3)(Q21 Q26.2)
Radioulnar Synostosis, Nonsyndromic	RUS Radioulnar Synostosis, Nonsyndromic, Susceptibility To Radioulnar Synostosis, Non-Syndromic
Radio-Ulnar Synostosis-Amegakaryocytic Thrombocytopenia Syndrome	Atrus Syndrome
Hepatocellular Carcinoma	Liver Cancer Primary Liver Cancer HCC Hepatoma Malignant Neoplasm Of Liver Liver Neoplasms Cancer, Hepatocellular Liver Cell Carcinoma Lcc Hepatoblastoma, Somatic Hepatic Cancer Primary Malignant Neoplasm Of Liver Rare Tumor Of Liver And Intrahepatic Biliary Tract Hepatocellular Carcinoma, Somatic Hepatocellular Carcinoma, Childhood Type, Somatic Hepatocellular Cancer, Somatic Ca Liver - Primary Hepatic Neoplasm Malignant Hepato-Biliary Neoplasm Malignant Neoplasm Of Liver, Not Specified As Primary Or Secondary Malignant Neoplasm Of Liver, Primary Malignant Tumor Of Liver Neoplasm Of Liver Non-Resectable Primary Hepatic Malignant Neoplasm Resectable Malignant Neoplasm Of Liver Resectable Malignant Neoplasm Of The Liver Primary Liver Carcinoma Primary Malignant Liver Neoplasm Primary Cancer Of Liver Primary Tumor Of The Liver Rare Tumor Of Liver And Ibt Hepatocellular Cancer Neoplasm Of The Liver Carcinoma, Hepatocellular Hepatomas Liver Neoplasm Liver Carcinoma Liver And Intrahepatic Biliary Tract Carcinoma Malignant Hepatobiliary Neoplasm Adult Primary Hepatocellular Carcinoma Hepatoblastoma Carcinoma Of Liver Malignant Liver Tumour Malignant Hepatic Tumour
Dyskeratosis Congenita, Autosomal Dominant 1	DKCA1 Dyskeratosis Congenita, Scoggins Type Autosomal Dominant Dyskeratosis Congenita 1 Dyskeratosis Congenita, Autosomal Dominant, Type 1 Dyskeratosis Congenita, Autosomal Dominant
Myelodysplastic Syndrome	Myelodysplastic Syndromes Myelodysplasia MDS Myelodysplastic Syndrome Included Myelodysplastic Syndrome, Susceptibility To, Included Myelodysplastic Syndrome, Somatic Myelodysplastic Syndrome, Susceptibility To
Leukemia	Leukemias Leukaemia, Unspecified, Without Mention Of Remission Aleukemic Leukaemia Chronic Leukaemia Subacute Leukaemia Leukaemia Disorder Leukaemia Nos
Thrombocytopenia	Low Platelet Count Low Platelets Decreased Platelets Platelet Dysfunction Nos
Dyskeratosis Congenita	Dyskeratosis Congenita Autosomal Dominant Dc Dkc Zinsser-Engman-Cole Syndrome Dyskeratosis Congenita, Autosomal Dominant Autosomal Dominant Dyskeratosis Congenita Dkca Dyskeratosis Congenita Scoggins Type Zinsser-Cole-Engman Syndrome X-Linked Dyskeratosis Congenita Hoyeraal-Hreidarsson Syndrome
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
Synostosis
Thrombocytopenia 2	THC2 Thrombocytopenia, Autosomal Dominant, 2 Thrombocytopenia Autosomal Dominant 2 Thrombocytopenia-2
Premature Menopause	Primary Ovarian Insufficiency Premature Ovarian Failure Hypergonadotropic Hypogonadism Premature Ovarian Insufficiency Menopause - Premature Menopause Praecox Menopause Premature Menopause, Premature Female Hypergonadotropic Hypogonadism Hypergonadotrophic Ovarian Failure Primary Female Hypogonadism Pof - [Premature Ovarian Failure] Ovarian Failure Ovarian Secretion Suppression Ovary Hyposecretion Ovary Secretion Deficiency Premature Menopause Nos
Granulomatous Disease, Chronic, X-Linked	CGDX Chronic Granulomatous Disease, X-Linked X-Linked Chronic Granulomatous Disease Cgd Cytochrome B-Negative Granulomatous Disease, Chronic, X-Linked Cdgx X-Linked Chronic Cytochrome B-Negative Granulomatous Disease Chronic Granulomatous Disease Cytochrome B-Negative X-Linked Chronic Granulomatous Disease Cytochrome B-Positive X-Linked Granulomatous Disease, Chronic, X-Linked, Variant
Pancytopenia
Phagocyte Bactericidal Dysfunction	Phagocytic Dysfunction
Brachyolmia Type 4 With Mild Epiphyseal And Metaphyseal Changes	Spondyloepimetaphyseal Dysplasia, Pakistani Type Spondyloepimetaphyseal Dysplasia, Papss2 Type BCYM4 Semd, Pakistani Type Spondylodysplasia And Premature Pubarche Brachyolmia 4 With Mild Epiphyseal And Metaphyseal Changes Spondyloepimetaphyseal Dysplasia Pakistani Type Semd Pakistani Type Spondylometaepiphyseal Dysplasia Pakistani Type Brachyolmia, Type 4, With Mild Epiphyseal And Metaphyseal Changes
Hematologic Cancer	Hematologic Neoplasm Hematologic Neoplasms Hematologic Malignancies Blood Cancer Hematologic Malignancy Hematological Tumors Hematopoietic And Lymphoid System Tumor Hematopoietic Cancer Hematopoietic Neoplasm Hematopoietic Tumors Malignant Hematopoietic Neoplasm Liquid Tumor Hematopoietic Neoplasms
Leukemia, Chronic Myeloid	Chronic Myeloid Leukemia Chronic Myelogenous Leukemia CML Chronic Granulocytic Leukemia Leukemia, Philadelphia Chromosome-Positive, Resistant To Imatinib Chronic Myeloid Leukaemia Chronic Granulocytic Leukaemia Chronic Myelogenous Leukaemia Myeloid Leukemia, Chronic Leukemia, Chronic Myelogenous Leukemia, Chronic Myeloid, Philadelphia Chromosome Positive, Somatic Cml - Chronic Myelogenous Leukemia Cgl Chronic Myelocytic Leukemia Leukemia, Chronic Myeloid, Atypical ACML Atypical Chronic Myeloid Leukemia Bcr-Abl1 Negative Myeloid Leukemia Chronic Leukemia, Myeloid, Chronic Leukemia, Myeloid, Chronic, Atypical, Bcr-Abl Negative Cml- [Chronic Myeloid Leukaemia] Cgl - [Chronic Granulocytic Leukaemia] Chronic Myelocytic Leukaemia
Amegakaryocytic Thrombocytopenia, Congenital	Congenital Amegakaryocytic Thrombocytopenia CAMT Thrombocytopenia, Congenital Amegakaryocytic Congenital Amegakaryocytic Thrombocytopenic Purpura Thrombocytopenia Congenital Amegakaryocytic Thrombocytopenia, Amegakaryocytic, Congenital
Severe Combined Immunodeficiency, X-Linked	X-Linked Severe Combined Immunodeficiency SCIDX1 XSCID Scidx X-Linked Scid X-Scid Severe Combined Immunodeficiency, X-Linked, T Cell-Negative, B Cell-Positive, Nk Cell-Negative Scid, X-Linked Immunodeficiency 4 Imd4 Gamma Chain Deficiency Scid-X1 X-Linked Combined Immunodeficiency Diseases Thymic Epithelial Hypoplasia Severe Combined Immunodeficiency T- B+ Due To Gamma Chain Deficiency Severe Combined Immunodeficiency T- B+, X-Linked Il2rg Scid, T- B+ Nk- T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency T-B+ Scid Due To Gamma Chain Deficiency T-B+ Severe Combined Immunodeficiency, X-Linked Severe Combined Immunodeficiency X-Linked T-Cell-Negative/B-Cell-Positive/Nk-Cell-Negative Agammaglobulinemia Swiss Type Scid X-Linked Severe Combined Immunodeficiency X-Linked T Cell-Negative/B Cell-Positive/Nk Cell-Negative Severe Combined Immunodeficiency X-Linked T-Cell Negative/B-Cell Positive/Nk-Cell Negative Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency
Ovarian Cancer	Ovarian Carcinoma Ovarian Neoplasm Malignant Tumour Of Ovary Cancer Of The Ovary Epithelial Ovarian Cancer Neoplasm Of Ovary Ovarian Neoplasms Ovarian Cancers Malignant Neoplasm Of Ovary Primary Malignant Neoplasm Of Ovary Ovarian Cancer, Somatic Malignant Ovarian Tumor Ovary Neoplasm Primary Ovarian Cancer Tumor Of The Ovary Malignant Neoplasm Of The Ovary Malignant Tumor Of The Ovary Ovarian Malignant Tumor OC Ovarian Carcinomas Cancer, Ovarian Cancer Of Ovary Ovary Cancer Ca Ovary
Chronic Granulomatous Disease	Cgd Granulomatous Disease, Chronic Autosomal Recessive Chronic Granulomatous Disease X-Linked Chronic Granulomatous Disease Bridges-Good Syndrome Congenital Dysphagocytosis Quie Syndrome Chronic Septic Granulomatosis Chronic Granulomatous Disorder Granulomatous Disease Chronic Granulomatous Disease, Chronic, X-Linked
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

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 (1)

Cat. No.	Nom du produit	Effect	Pureté	Rare Diseases
HY-RS08275	MECOM Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Mus musculus	MECOM	MGD	MGI:95457
Bos taurus	MECOM	VGNC	VGNC:31343
Rattus norvegicus	MECOM	RGD	RGD:1310997
Canis familiaris	MECOM	VGNC	VGNC:43114
Macaca mulatta	MECOM	VGNC	VGNC:74635
Felis catus	MECOM	VGNC	VGNC:63429
Others	MECOM	NCBI