• Gene id: 2122

Gene Summary

• Gene Symbol: MECOM   Gene   UCSC   Ensembl
• Aliases: AML1-EVI-1, EVI1, KMT8E, MDS1, MDS1-EVI1, PRDM3, RUSAT2
• Gene name: MDS1 and EVI1 complex locus
• Alternate names: histone-lysine N-methyltransferase MECOM, AML1-EVI-1 fusion protein, MDS1 and EVI1 complex locus protein EVI1, MDS1 and EVI1 complex locus protein MDS1, PR domain 3, ecotropic virus integration site 1 protein homolog, myelodysplasia syndrome-associated protein ,
• Gene location: 3q26.2 (169663780: 169083498)     Exons: 23     NC_000003.12
• Gene summary(Entrez): 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, M
• OMIM: 613018

Protein Summary

• Protein general information: Q03112  
  • Name: Histone lysine N methyltransferase MECOM (EC 2.1.1. ) (Ecotropic virus integration site 1 protein homolog) (EVI 1) (MDS1 and EVI1 complex locus protein) (Myelodysplasia syndrome 1 protein) (Myelodysplasia syndrome associated protein 1)
  • Length: 1230  
  • Mass: 138136
• Sequence:

  MRSKGRARKLATNNECVYGNYPEIPLEEMPDADGVASTPSLNIQEPCSPATSSEAFTPKEGSPYKAPIYIPDDIP
  IPAEFELRESNMPGAGLGIWTKRKIEVGEKFGPYVGEQRSNLKDPSYGWEILDEFYNVKFCIDASQPDVGSWLKY
  IRFAGCYDQHNLVACQINDQIFYRVVADIAPGEELLLFMKSEDYPHETMAPDIHEERQYRCEDCDQLFESKAELA
  DHQKFPCSTPHSAFSMVEEDFQQKLESENDLQEIHTIQECKECDQVFPDLQSLEKHMLSHTEEREYKCDQCPKAF
  NWKSNLIRHQMSHDSGKHYECENCAKVFTDPSNLQRHIRSQHVGARAHACPECGKTFATSSGLKQHKHIHSSVKP
  FICEVCHKSYTQFSNLCRHKRMHADCRTQIKCKDCGQMFSTTSSLNKHRRFCEGKNHFAAGGFFGQGISLPGTPA
  MDKTSMVNMSHANPGLADYFGANRHPAGLTFPTAPGFSFSFPGLFPSGLYHRPPLIPASSPVKGLSSTEQTNKSQ
  SPLMTHPQILPATQDILKALSKHPSVGDNKPVELQPERSSEERPFEKISDQSESSDLDDVSTPSGSDLETTSGSD
  LESDIESDKEKFKENGKMFKDKVSPLQNLASINNKKEYSNHSIFSPSLEEQTAVSGAVNDSIKAIASIAEKYFGS
  TGLVGLQDKKVGALPYPSMFPLPFFPAFSQSMYPFPDRDLRSLPLKMEPQSPGEVKKLQKGSSESPFDLTTKRKD
  EKPLTPVPSKPPVTPATSQDQPLDLSMGSRSRASGTKLTEPRKNHVFGGKKGSNVESRPASDGSLQHARPTPFFM
  DPIYRVEKRKLTDPLEALKEKYLRPSPGFLFHPQMSAIENMAEKLESFSALKPEASELLQSVPSMFNFRAPPNAL
  PENLLRKGKERYTCRYCGKIFPRSANLTRHLRTHTGEQPYRCKYCDRSFSISSNLQRHVRNIHNKEKPFKCHLCD
  RCFGQQTNLDRHLKKHENGNMSGTATSSPHSELESTGAILDDKEDAYFTEIRNFIGNSNHGSQSPRNVEERMNGS
  HFKDEKALVTSQNSDLLDDEEVEDEVLLDEEDEDNDITGKTGKEPVTSNLHEGNPEDDYEETSALEMSCKTSPVR
  YKEEEYKSGLSALDHIRHFTDSLKMRKMEDNQYSEAELSSFSTSHVPEELKQPLHRKSKSQAYAMMLSLSDKESL
  HSTSHSSSNVWHSMARAAAESSAIQSISHV

• Structural information:
  • Protein Domains: (78..19-)
    (/note="SET-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00190"-)
  • Interpro: IPR001214  IPR036236  IPR013087  
  • Prosite: PS50280 PS00028 PS50157
  • PDB: 6BW3
  • PDBsum: 6BW3
  • DIP: 38639
  • STRING: ENSP00000264674
• Other Databases: GeneCards:  MECOM  Malacards:  MECOM

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0000118	histone deacetylase complex	IBA	colocalizes with
GO:0005634	nucleus	IBA	cellular component
GO:0010468	regulation of gene expression	IBA	biological process
GO:0030097	hemopoiesis	IBA	biological process
GO:0045944	positive regulation of transcription by RNA polymerase II	IBA	biological process
GO:0051726	regulation of cell cycle	IDA	biological process
GO:0045893	positive regulation of transcription, DNA-templated	IDA	biological process
GO:0045893	positive regulation of transcription, DNA-templated	IDA	biological process
GO:0045892	negative regulation of transcription, DNA-templated	IDA	biological process
GO:0045892	negative regulation of transcription, DNA-templated	IDA	biological process
GO:0003700	DNA-binding transcription factor activity	IDA	molecular function
GO:0000118	histone deacetylase complex	IDA	colocalizes with
GO:0016607	nuclear speck	IDA	cellular component
GO:0005634	nucleus	IDA	cellular component
GO:0071425	hematopoietic stem cell proliferation	ISS	biological process
GO:0043069	negative regulation of programmed cell death	IMP	biological process
GO:0046329	negative regulation of JNK cascade	IMP	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0003677	DNA binding	ISS	molecular function
GO:0016740	transferase activity	IEA	molecular function
GO:0030154	cell differentiation	IEA	biological process
GO:0046872	metal ion binding	IEA	molecular function
GO:0032259	methylation	IEA	biological process
GO:0005634	nucleus	IEA	cellular component
GO:0007275	multicellular organism development	IEA	biological process
GO:0003677	DNA binding	IEA	molecular function
GO:0006915	apoptotic process	IEA	biological process
GO:0008168	methyltransferase activity	IEA	molecular function
GO:0005737	cytoplasm	IEA	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0016607	nuclear speck	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0016607	nuclear speck	IDA	cellular component
GO:0051567	histone H3-K9 methylation	IEA	biological process
GO:0046974	histone methyltransferase activity (H3-K9 specific)	ISS	molecular function
GO:0070828	heterochromatin organization	ISS	biological process

KEGG pathways

Pathway id	Pathway name
hsa05200	Pathways in cancer
hsa04010	MAPK signaling pathway
hsa05220	Chronic myeloid leukemia

Diseases

Associated diseases	References
Chronic myeloid leukemia	KEGG:H00004
Radioulnar synostosis with amegakaryocytic thrombocytopenia	KEGG:H00867
Chronic myeloid leukemia	KEGG:H00004
Radioulnar synostosis with amegakaryocytic thrombocytopenia	KEGG:H00867
Myeloid neoplasm	PMID:9044825
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Cryptorchidism	MIK: 28606200
Spermatogenic defects	MIK: 31037746

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq
31037746	Spermatogenic defects			28 men with azoospermia	Male infertility	Microarray