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Aliases for MECOM Gene

Aliases for MECOM Gene

  • MDS1 And EVI1 Complex Locus 2 3 5
  • Ecotropic Virus Integration Site 1 Protein Homolog 3 4
  • Myelodysplasia Syndrome-Associated Protein 1 3 4
  • PR Domain 3 2 3
  • EVI1 3 4
  • MDS1 3 4
  • MDS1 And EVI1 Complex Locus Protein MDS1 3
  • Ecotropic Viral Integration Site 1 2
  • Myelodysplasia Syndrome 1 Protein 4
  • Myelodysplasia Syndrome 1 2
  • AML1-EVI-1 Fusion Protein 3
  • Zinc Finger Protein Evi1 3
  • Oncogene EVI1 3
  • AML1-EVI-1 3
  • MDS1-EVI1 3
  • RUSAT2 3
  • PRDM3 3
  • EVI-1 4

External Ids for MECOM Gene

Previous HGNC Symbols for MECOM Gene

  • MDS1
  • EVI1

Previous GeneCards Identifiers for MECOM Gene

  • GC03M170284
  • GC03M168802
  • GC03M166172

Summaries for MECOM Gene

Entrez Gene Summary for MECOM Gene

  • 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]

GeneCards Summary for MECOM Gene

MECOM (MDS1 And EVI1 Complex Locus) is a Protein Coding gene. Diseases associated with MECOM include Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia and Acute Myeloid Leukemia With Inv3(P21;Q26.2) Or T(3;3)(P21;Q26.2). Among its related pathways are NF-kappaB Signaling and Pathways in cancer. GO annotations related to this gene include nucleic acid binding and protein homodimerization activity. An important paralog of this gene is PRDM16.

UniProtKB/Swiss-Prot for MECOM Gene

  • Functions as a transcriptional regulator binding to DNA sequences in the promoter region of target genes and regulating positively or negatively their expression. Oncogene which plays a role in development, cell proliferation and differentiation. May also play a role in apoptosis through regulation of the JNK and TGF-beta signaling. Involved in hematopoiesis.

Gene Wiki entry for MECOM Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for MECOM Gene

Genomics for MECOM Gene

Regulatory Elements for MECOM Gene

Enhancers for MECOM Gene
GeneHancer Identifier Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

Enhancers around MECOM on UCSC Golden Path with GeneCards custom track

Promoters for MECOM Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around MECOM on UCSC Golden Path with GeneCards custom track

Genomic Location for MECOM Gene

Chromosome:
3
Start:
169,083,499 bp from pter
End:
169,663,786 bp from pter
Size:
580,288 bases
Orientation:
Minus strand

Genomic View for MECOM Gene

Genes around MECOM on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
MECOM Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for MECOM Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for MECOM Gene

Proteins for MECOM Gene

  • Protein details for MECOM Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q03112-EVI1_HUMAN
    Recommended name:
    MDS1 and EVI1 complex locus protein EVI1
    Protein Accession:
    Q03112
    Secondary Accessions:
    • A1L4F3
    • A8KA00
    • B7Z8W7
    • B7ZLQ3
    • B7ZLQ4
    • C9JAK0
    • D3DNP7
    • Q16122
    • Q5HYI1
    • Q6MZS6
    • Q8NEI5
    • Q99917

    Protein attributes for MECOM Gene

    Size:
    1051 amino acids
    Molecular mass:
    118276 Da
    Quaternary structure:
    • Homooligomer. Interacts with SUV39H1 (via SET domain); enhances MECOM transcriptional repression activity (By similarity). Interacts with CTBP1. Interacts with SMAD3 (via MH2 domain); the interaction is direct. Interacts with SMAD4; through interaction with SMAD3. Interacts with CREBBP, KAT2B and histone deacetylases. Interacts with MAPK8 and MAPK9; inhibits JNK signaling.
    SequenceCaution:
    • Sequence=AAB29907.1; Type=Erroneous initiation; Evidence={ECO:0000305}; Sequence=AAB37456.1; Type=Miscellaneous discrepancy; Note=Probable cloning artifact.; Evidence={ECO:0000305}; Sequence=AAI30521.1; Type=Erroneous initiation; Evidence={ECO:0000305}; Sequence=BAH14103.1; Type=Miscellaneous discrepancy; Note=Aberrant splicing.; Evidence={ECO:0000305};

    Alternative splice isoforms for MECOM Gene

  • Protein details for MECOM Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q13465-MDS1_HUMAN
    Recommended name:
    MDS1 and EVI1 complex locus protein MDS1
    Protein Accession:
    Q13465
    Secondary Accessions:
    • Q13466
    • Q6FH90

    Protein attributes for MECOM Gene

    Size:
    169 amino acids
    Molecular mass:
    18696 Da
    Quaternary structure:
    No Data Available

    Alternative splice isoforms for MECOM Gene

neXtProt entry for MECOM Gene

Proteomics data for MECOM Gene at MOPED

Post-translational modifications for MECOM Gene

No data available for DME Specific Peptides for MECOM Gene

Domains & Families for MECOM Gene

Gene Families for MECOM Gene

Protein Domains for MECOM Gene

Graphical View of Domain Structure for InterPro Entry

Q03112

UniProtKB/Swiss-Prot:

MDS1_HUMAN :
  • Both zinc finger regions are required for the transcriptional activation of PBX1.
  • Contains 10 C2H2-type zinc fingers.
Domain:
  • Both zinc finger regions are required for the transcriptional activation of PBX1.
Similarity:
  • Contains 10 C2H2-type zinc fingers.
genes like me logo Genes that share domains with MECOM: view

Function for MECOM Gene

Molecular function for MECOM Gene

UniProtKB/Swiss-Prot Function:
Functions as a transcriptional regulator binding to DNA sequences in the promoter region of target genes and regulating positively or negatively their expression. Oncogene which plays a role in development, cell proliferation and differentiation. May also play a role in apoptosis through regulation of the JNK and TGF-beta signaling. Involved in hematopoiesis.

Gene Ontology (GO) - Molecular Function for MECOM Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0042803 NOT protein homodimerization activity IDA 15897867
genes like me logo Genes that share ontologies with MECOM: view
genes like me logo Genes that share phenotypes with MECOM: view

Human Phenotype Ontology for MECOM Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for MECOM Gene

MGI Knock Outs for MECOM:

Animal Model Products

CRISPR Products

miRNA for MECOM Gene

miRTarBase miRNAs that target MECOM

Transcription Factor Targets for MECOM Gene

Selected GeneGlobe predicted Target genes for MECOM

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) and HOMER Transcription for MECOM Gene

Localization for MECOM Gene

Subcellular locations from UniProtKB/Swiss-Prot for MECOM Gene

Nucleus. Nucleus speckle.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for MECOM Gene COMPARTMENTS Subcellular localization image for MECOM gene
Compartment Confidence
cytosol 5
nucleus 5
golgi apparatus 4
extracellular 3
cytoskeleton 1
plasma membrane 1

Gene Ontology (GO) - Cellular Components for MECOM Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IDA 15897867
GO:0005654 nucleoplasm IDA --
GO:0005737 cytoplasm IDA --
genes like me logo Genes that share ontologies with MECOM: view

Pathways & Interactions for MECOM Gene

genes like me logo Genes that share pathways with MECOM: view

Pathways by source for MECOM Gene

1 Cell Signaling Technology pathway for MECOM Gene
1 GeneGo (Thomson Reuters) pathway for MECOM Gene

SIGNOR curated interactions for MECOM Gene

Inactivates:

Gene Ontology (GO) - Biological Process for MECOM Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006325 chromatin organization TAS --
GO:0006355 regulation of transcription, DNA-templated IEA,TAS 8643684
GO:0006915 apoptotic process IEA --
GO:0030154 cell differentiation IEA --
GO:0034968 histone lysine methylation TAS --
genes like me logo Genes that share ontologies with MECOM: view

Drugs & Compounds for MECOM Gene

(1) Drugs for MECOM Gene - From: Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
genes like me logo Genes that share compounds with MECOM: view

Transcripts for MECOM Gene

Unigene Clusters for MECOM Gene

MDS1 and EVI1 complex locus:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for MECOM Gene

ExUns: 1 ^ 2a · 2b · 2c ^ 3a · 3b · 3c ^ 4 ^ 5 ^ 6 ^ 7 ^ 8a · 8b · 8c ^ 9a · 9b · 9c ^ 10a · 10b ^ 11 ^ 12a · 12b ^ 13 ^ 14 ^ 15 ^ 16 ^
SP1: - - -
SP2: -
SP3: -
SP4: - - - - - - - -
SP5: - - - - - -
SP6: - - - - -
SP7: - - - -
SP8: - -
SP9: -
SP10:

ExUns: 17 ^ 18 ^ 19 ^ 20 ^ 21
SP1:
SP2:
SP3:
SP4:
SP5:
SP6:
SP7:
SP8:
SP9:
SP10:

Relevant External Links for MECOM Gene

GeneLoc Exon Structure for
MECOM
ECgene alternative splicing isoforms for
MECOM

Expression for MECOM Gene

mRNA expression in normal human tissues for MECOM Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for MECOM Gene

This gene is overexpressed in Stomach (x6.4).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MOPED, and MaxQB for MECOM Gene



SOURCE GeneReport for Unigene cluster for MECOM Gene Hs.744090

genes like me logo Genes that share expression patterns with MECOM: view

Primer Products

No data available for Protein differential expression in normal tissues , mRNA Expression by UniProt/SwissProt and Protein tissue co-expression partners for MECOM Gene

Orthologs for MECOM Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for MECOM Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia MECOM 35
  • 94.19 (n)
  • 96.85 (a)
MECOM 36
  • 97 (a)
OneToOne
dog
(Canis familiaris)
Mammalia MECOM 35
  • 95.4 (n)
  • 97.44 (a)
MECOM 36
  • 96 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Mecom 35
  • 88.29 (n)
  • 92.36 (a)
Mecom 16
Mecom 36
  • 92 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia MECOM 35
  • 99.76 (n)
  • 99.91 (a)
MECOM 36
  • 100 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia MECOM 36
  • 87 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia MECOM 36
  • 92 (a)
OneToOne
chicken
(Gallus gallus)
Aves MECOM 35
  • 84.92 (n)
  • 89.91 (a)
MECOM 36
  • 76 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia MECOM 36
  • 86 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia LOC100496511 35
  • 74.78 (n)
  • 77.18 (a)
Str.12493 35
zebrafish
(Danio rerio)
Actinopterygii mecom 35
  • 65.52 (n)
  • 69.28 (a)
mecom 36
  • 66 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta ham 36
  • 27 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea egl-43 36
  • 30 (a)
OneToMany
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes MSN2 36
  • 17 (a)
ManyToMany
MSN4 36
  • 16 (a)
ManyToMany
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.322 35
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 37 (a)
OneToMany
Species with no ortholog for MECOM:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rat (Rattus norvegicus)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for MECOM Gene

ENSEMBL:
Gene Tree for MECOM (if available)
TreeFam:
Gene Tree for MECOM (if available)

Paralogs for MECOM Gene

Paralogs for MECOM Gene

genes like me logo Genes that share paralogs with MECOM: view

Variants for MECOM Gene

Sequence variations from dbSNP and Humsavar for MECOM Gene

SNP ID Clin Chr 03 pos Sequence Context AA Info Type
rs34896995 - 169,122,674(-) TGATC(A/G)GTGTC reference, missense
rs7622799 - 169,381,204(+) ACTGG(A/G)GTCTT intron-variant, reference, missense
rs15214 -- 169,499,307(+) AGAGA(A/G)AAATC intron-variant
rs718370 -- 169,636,617(+) GAACC(C/T)TTAGA intron-variant
rs721806 -- 169,556,994(+) AGGGG(C/T)TAAAA intron-variant

Structural Variations from Database of Genomic Variants (DGV) for MECOM Gene

Variant ID Type Subtype PubMed ID
nsv7356 OTHER Inversion 18451855
esv272132 CNV Insertion 20981092
esv272478 CNV Insertion 20981092
esv2726180 CNV Deletion 23290073
esv2726181 CNV Deletion 23290073
esv2726182 CNV Deletion 23290073
esv2594592 CNV Deletion 19546169
nsv877975 CNV Gain 21882294
nsv528819 CNV Loss 19592680
nsv4108 CNV Insertion 18451855
nsv829791 CNV Loss 17160897
nsv829792 CNV Loss 17160897
esv271921 CNV Insertion 20981092
esv2726183 CNV Deletion 23290073
esv2726184 CNV Deletion 23290073
esv2726186 CNV Deletion 23290073
nsv508965 CNV Insertion 20534489
nsv4109 CNV Insertion 18451855
esv2844 CNV Deletion 18987735
esv7580 CNV Loss 19470904
esv2674789 CNV Deletion 23128226
esv2726187 CNV Deletion 23290073
esv268746 CNV Insertion 20981092
nsv4111 CNV Loss 18451855
esv275118 CNV Loss 21479260
esv24422 CNV Gain 19812545
esv2422204 CNV Deletion 17116639
esv2676634 CNV Deletion 23128226

Variation tolerance for MECOM Gene

Residual Variation Intolerance Score: 38.5% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 6.42; 77.17% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for MECOM Gene

Human Gene Mutation Database (HGMD)
MECOM

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for MECOM Gene

Disorders for MECOM Gene

MalaCards: The human disease database

(15) MalaCards diseases for MECOM Gene - From: Orphanet, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
radioulnar synostosis with amegakaryocytic thrombocytopenia
  • thrombocytopenia, congenital, with radioulnar synostosis
acute myeloid leukemia with inv3(p21;q26.2) or t(3;3)(p21;q26.2)
  • aml with inv3(p21;q26.2) or t(3;3)(p21;q26.2)
myeloid leukemia
  • leukemia myelogenous
leukemia
pallister-hall syndrome
  • hypothalamic hamartoblastoma, hypopituitarism, imperforate anus, and postaxial polydactyly
- elite association - COSMIC cancer census association via MalaCards
Search MECOM in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

MDS1_HUMAN
  • Note=A chromosomal aberration involving EVI1 is a cause of chronic myelogenous leukemia (CML). Translocation t(3;21)(q26;q22) with RUNX1/AML1. {ECO:0000269 PubMed:8313895}.
  • Note=A chromosomal aberration involving MDS1 is found in a form of acute myeloid leukemia (AML). Translocation t(3;21) with AML1. {ECO:0000269 PubMed:8643684}.

Relevant External Links for MECOM

Genetic Association Database (GAD)
MECOM
Human Genome Epidemiology (HuGE) Navigator
MECOM
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
MECOM
genes like me logo Genes that share disorders with MECOM: view

No data available for Genatlas for MECOM Gene

Publications for MECOM Gene

  1. Intergenic splicing of MDS1 and EVI1 occurs in normal tissues as well as in myeloid leukemia and produces a new member of the PR domain family. (PMID: 8643684) Fears S. … Nucifora G. (Proc. Natl. Acad. Sci. U.S.A. 1996) 2 3 4 67
  2. EVI-1 interacts with histone methyltransferases SUV39H1 and G9a for transcriptional repression and bone marrow immortalization. (PMID: 19776757) Goyama S. … Kurokawa M. (Leukemia 2010) 3 23
  3. Genomic instability and myelodysplasia with monosomy 7 consequent to EVI1 activation after gene therapy for chronic granulomatous disease. (PMID: 20098431) Stein S. … Grez M. (Nat. Med. 2010) 3 23
  4. Inducible expression of EVI1 in human myeloid cells causes phenotypes consistent with its role in myelodysplastic syndromes. (PMID: 19605700) Konrad T.A. … Wieser R. (J. Leukoc. Biol. 2009) 3 23
  5. Expression and prognostic significance of different mRNA 5'-end variants of the oncogene EVI1 in 266 patients with de novo AML: EVI1 and MDS1/EVI1 overexpression both predict short remission duration. (PMID: 18181178) Haas K. … Wieser R. (Genes Chromosomes Cancer 2008) 3 23

Products for MECOM Gene

Sources for MECOM Gene

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