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    MECOM MDS1 and EVI1 complex locus [ Homo sapiens (human) ]

    Gene ID: 2122, updated on 20-Apr-2019

    Summary

    Official Symbol
    MECOMprovided by HGNC
    Official Full Name
    MDS1 and EVI1 complex locusprovided by HGNC
    Primary source
    HGNC:HGNC:3498
    See related
    Ensembl:ENSG00000085276 MIM:165215
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    EVI1; MDS1; KMT8E; PRDM3; RUSAT2; MDS1-EVI1; AML1-EVI-1
    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]
    Expression
    Broad expression in stomach (RPKM 15.9), kidney (RPKM 12.6) and 18 other tissues See more
    Orthologs

    Genomic context

    See MECOM in Genome Data Viewer
    Location:
    3q26.2
    Exon count:
    22
    Annotation release Status Assembly Chr Location
    109 current GRCh38.p12 (GCF_000001405.38) 3 NC_000003.12 (169083499..169663781, complement)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 3 NC_000003.11 (168801287..169381563, complement)

    Chromosome 3 - NC_000003.12Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC107986051 Neighboring gene long intergenic non-protein coding RNA 1997 Neighboring gene VISTA enhancer hs1433 Neighboring gene uncharacterized LOC105374206 Neighboring gene uncharacterized LOC105374205 Neighboring gene ribosomal protein L22 pseudogene 1 Neighboring gene RNA, U6 small nuclear 637, pseudogene Neighboring gene succinate dehydrogenase complex subunit D pseudogene 3

    Genomic regions, transcripts, and products

    Expression

    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    Phenotypes

    Associated conditions

    Description Tests
    Radioulnar synostosis with amegakaryocytic thrombocytopenia 2
    MedGen: C4225221 OMIM: 616738 GeneReviews: Not available
    Compare labs

    NHGRI GWAS Catalog

    Description
    A genome-wide association study of aging.
    NHGRI GWA Catalog
    A genome-wide association study of nasopharyngeal carcinoma identifies three new susceptibility loci.
    NHGRI GWA Catalog
    Gene-Smoking Interactions Identify Several Novel Blood Pressure Loci in the Framingham Heart Study.
    NHGRI GWA Catalog
    Genetic variants in novel pathways influence blood pressure and cardiovascular disease risk.
    NHGRI GWA Catalog
    Genome-wide analysis of polymorphisms associated with cytokine responses in smallpox vaccine recipients.
    NHGRI GWA Catalog
    Genome-wide association and large-scale follow up identifies 16 new loci influencing lung function.
    NHGRI GWA Catalog
    Genome-wide association studies of serum magnesium, potassium, and sodium concentrations identify six Loci influencing serum magnesium levels.
    NHGRI GWA Catalog
    Genome-wide association study identifies eight loci associated with blood pressure.
    NHGRI GWA Catalog
    Genome-wide association study identifies six new loci influencing pulse pressure and mean arterial pressure.
    NHGRI GWA Catalog
    Genome-wide association study of blood pressure and hypertension.
    NHGRI GWA Catalog
    Genome-wide joint meta-analysis of SNP and SNP-by-smoking interaction identifies novel loci for pulmonary function.
    NHGRI GWA Catalog
    Meta-analysis identifies a MECOM gene as a novel predisposing factor of osteoporotic fracture.
    NHGRI GWA Catalog
    Meta-analysis identifies multiple loci associated with kidney function-related traits in east Asian populations.
    NHGRI GWA Catalog
    The CCND1 c.870G>A polymorphism is a risk factor for t(11;14)(q13;q32) multiple myeloma.
    NHGRI GWA Catalog

    HIV-1 interactions

    Replication interactions

    Interaction Pubs
    Knockdown of MDS1 and EVI1 complex locus (MECOM) by siRNA inhibits HIV-1 replication in HeLa P4/R5 cells PubMed

    Go to the HIV-1, Human Interaction Database

    Pathways from BioSystems

    • Chromatin modifying enzymes, organism-specific biosystem (from REACTOME)
      Chromatin modifying enzymes, organism-specific biosystemEukaryotic DNA is associated with histone proteins and organized into a complex nucleoprotein structure called chromatin. This structure decreases the accessibility of DNA but also helps to protect i...
    • Chromatin organization, organism-specific biosystem (from REACTOME)
      Chromatin organization, organism-specific biosystemChromatin organization refers to the composition and conformation of complexes between DNA, protein and RNA. It is determined by processes that result in the specification, formation or maintenance o...
    • Chronic myeloid leukemia, organism-specific biosystem (from KEGG)
      Chronic myeloid leukemia, organism-specific biosystemChronic myeloid leukemia (CML) is a clonal myeloproliferative disorder of a pluripotent stem cell. The natural history of CML has a triphasic clinical course comprising of an initial chronic phase (C...
    • Chronic myeloid leukemia, conserved biosystem (from KEGG)
      Chronic myeloid leukemia, conserved biosystemChronic myeloid leukemia (CML) is a clonal myeloproliferative disorder of a pluripotent stem cell. The natural history of CML has a triphasic clinical course comprising of an initial chronic phase (C...
    • MAPK signaling pathway, organism-specific biosystem (from KEGG)
      MAPK signaling pathway, organism-specific biosystemThe mitogen-activated protein kinase (MAPK) cascade is a highly conserved module that is involved in various cellular functions, including cell proliferation, differentiation and migration. Mammals e...
    • MAPK signaling pathway, conserved biosystem (from KEGG)
      MAPK signaling pathway, conserved biosystemThe mitogen-activated protein kinase (MAPK) cascade is a highly conserved module that is involved in various cellular functions, including cell proliferation, differentiation and migration. Mammals e...
    • PKMTs methylate histone lysines, organism-specific biosystem (from REACTOME)
      PKMTs methylate histone lysines, organism-specific biosystemLysine methyltransferases (KMTs) and arginine methyltransferases (RMTs) have a common mechanism of catalysis. Both families transfer a methyl group from a common donor, S-adenosyl-L-methionine (SAM),...
    • Pathways in cancer, organism-specific biosystem (from KEGG)
      Pathways in cancer, organism-specific biosystem
      Pathways in cancer

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Homology

    Clone Names

    • MGC97004, MGC163392

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    DNA binding ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    DNA-binding transcription factor activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    DNA-binding transcription factor activity, RNA polymerase II-specific ISA
    Inferred from Sequence Alignment
    more info
     
    histone methyltransferase activity (H3-K9 specific) ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    metal ion binding IEA
    Inferred from Electronic Annotation
    more info
     
    protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Process Evidence Code Pubs
    apoptotic process IEA
    Inferred from Electronic Annotation
    more info
     
    cell differentiation IEA
    Inferred from Electronic Annotation
    more info
     
    hematopoietic stem cell proliferation ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    heterochromatin organization ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    histone H3-K9 methylation IEA
    Inferred from Electronic Annotation
    more info
     
    negative regulation of JNK cascade IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    negative regulation of programmed cell death IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    negative regulation of transcription, DNA-templated IDA
    Inferred from Direct Assay
    more info
    PubMed 
    positive regulation of transcription, DNA-templated IDA
    Inferred from Direct Assay
    more info
    PubMed 
    regulation of cell cycle IDA
    Inferred from Direct Assay
    more info
    PubMed 
    regulation of transcription by RNA polymerase II IEA
    Inferred from Electronic Annotation
    more info
     
    Component Evidence Code Pubs
    cytosol TAS
    Traceable Author Statement
    more info
     
    colocalizes_with histone deacetylase complex IDA
    Inferred from Direct Assay
    more info
    PubMed 
    nuclear speck IDA
    Inferred from Direct Assay
    more info
    PubMed 
    nucleoplasm TAS
    Traceable Author Statement
    more info
     
    nucleus IDA
    Inferred from Direct Assay
    more info
    PubMed 

    General protein information

    Preferred Names
    histone-lysine N-methyltransferase MECOM; MDS1 and EVI1 complex locus protein EVI1
    Names
    AML1-EVI-1 fusion protein
    MDS1 and EVI1 complex locus protein MDS1
    PR domain 3
    ecotropic virus integration site 1 protein homolog
    myelodysplasia syndrome-associated protein 1
    oncogene EVI1
    zinc finger protein Evi1
    NP_001098547.3
    NP_001098548.2
    NP_001157471.1
    NP_001157472.1
    NP_001192123.1
    NP_004982.2
    NP_005232.2
    XP_005247270.1
    XP_005247271.1
    XP_005247272.1
    XP_005247276.1
    XP_005247277.1
    XP_005247278.1
    XP_005247280.1
    XP_005247281.1
    XP_005247282.1
    XP_005247283.1
    XP_011510848.1
    XP_016861363.1
    XP_016861364.1
    XP_016861365.1
    XP_016861366.1
    XP_016861367.1
    XP_024309162.1

    NCBI Reference Sequences (RefSeq)

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    Genomic

    1. NG_028279.2 RefSeqGene

      Range
      5001..585277
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001105077.3NP_001098547.3  histone-lysine N-methyltransferase MECOM isoform a

      See identical proteins and their annotated locations for NP_001098547.3

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) encodes isoform a.
      Source sequence(s)
      AA043944, AC078985, BC130520, BX647613
      Consensus CDS
      CCDS54670.1
      UniProtKB/Swiss-Prot
      Q03112
      Related
      ENSP00000264674.3, ENST00000264674.7
      Conserved Domains (5) summary
      smart00317
      Location:872
      SET; SET (Su(var)3-9, Enhancer-of-zeste, Trithorax) domain
      sd00017
      Location:800820
      ZF_C2H2; C2H2 Zn finger [structural motif]
      pfam00096
      Location:798820
      zf-C2H2; Zinc finger, C2H2 type
      pfam13465
      Location:812836
      zf-H2C2_2; Zinc-finger double domain
      pfam15909
      Location:228309
      zf-C2H2_8; C2H2-type zinc ribbon
    2. NM_001105078.3NP_001098548.2  histone-lysine N-methyltransferase MECOM isoform b

      See identical proteins and their annotated locations for NP_001098548.2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3, also known as EVI1_1b) differs in the 5' UTR, lacks a portion of the 5' coding region, initiates translation at a downstream start codon, and uses an alternate in-frame splice site in the central coding region, compared to variant 1. The encoded isoform (b) is shorter at the N-terminus compared to isoform a. Variants 2, 3, and 7 all encode the same isoform.
      Source sequence(s)
      AA043944, AC078985, AK292865, BX484790, BX647613
      Consensus CDS
      CCDS3205.1
      UniProtKB/Swiss-Prot
      Q03112
      Related
      ENSP00000419995.1, ENST00000468789.5
      Conserved Domains (6) summary
      PHA00733
      Location:689785
      PHA00733; hypothetical protein
      COG5189
      Location:114207
      SFP1; Putative transcriptional repressor regulating G2/M transition [Transcription / Cell division and chromosome partitioning]
      sd00017
      Location:735755
      ZF_C2H2; C2H2 Zn finger [structural motif]
      pfam00096
      Location:733755
      zf-C2H2; Zinc finger, C2H2 type
      pfam13465
      Location:747771
      zf-H2C2_2; Zinc-finger double domain
      pfam15909
      Location:163247
      zf-C2H2_8; C2H2-type zinc ribbon
    3. NM_001163999.1NP_001157471.1  histone-lysine N-methyltransferase MECOM isoform d

      See identical proteins and their annotated locations for NP_001157471.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (5) lacks a portion of the 5' UTR and 5' coding region, initiates translation at a downstream start codon, and lacks an alternate in-frame exon in the central coding region, compared to variant 1. The encoded isoform (d) is shorter than isoform a.
      Source sequence(s)
      AA043944, AC078985, BC143952, BX647613
      UniProtKB/Swiss-Prot
      Q03112
      Conserved Domains (4) summary
      PHA00733
      Location:658777
      PHA00733; hypothetical protein
      sd00017
      Location:727747
      ZF_C2H2; C2H2 Zn finger [structural motif]
      pfam13465
      Location:739763
      zf-H2C2_2; Zinc-finger double domain
      pfam15909
      Location:164248
      zf-C2H2_8; C2H2-type zinc ribbon
    4. NM_001164000.1NP_001157472.1  histone-lysine N-methyltransferase MECOM isoform e

      Status: REVIEWED

      Description
      Transcript Variant: This variant (6, also known as EVI1_1a) differs in the 5' UTR, lacks a portion of the 5' coding region, initiates translation at a downstream start codon, and uses an alternate in-frame splice site and lacks an alternate in-frame exon in the central coding region, compared to variant 1. The encoded isoform (e) is shorter than isoform a.
      Source sequence(s)
      AA043944, AC078985, BX640908, BX647613
      Consensus CDS
      CCDS54669.1
      UniProtKB/Swiss-Prot
      Q03112
      Related
      ENSP00000419770.1, ENST00000464456.5
      Conserved Domains (5) summary
      PHA00733
      Location:657776
      PHA00733; hypothetical protein
      COG5189
      Location:114207
      SFP1; Putative transcriptional repressor regulating G2/M transition [Transcription / Cell division and chromosome partitioning]
      sd00017
      Location:726746
      ZF_C2H2; C2H2 Zn finger [structural motif]
      pfam13465
      Location:738762
      zf-H2C2_2; Zinc-finger double domain
      pfam15909
      Location:163247
      zf-C2H2_8; C2H2-type zinc ribbon
    5. NM_001205194.1NP_001192123.1  histone-lysine N-methyltransferase MECOM isoform b

      See identical proteins and their annotated locations for NP_001192123.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (7) differs in the 5' UTR and coding sequence compared to variant 1. The encoded isoform (b) is shorter at the N-terminus compared to isoform a. Variants 2, 3, and 7 all encode the same isoform.
      Source sequence(s)
      AA043944, BC130520, BX647613, DC347146, DC348381, GQ352634
      Consensus CDS
      CCDS3205.1
      UniProtKB/Swiss-Prot
      Q03112
      UniProtKB/TrEMBL
      C7FEN9
      Conserved Domains (6) summary
      PHA00733
      Location:689785
      PHA00733; hypothetical protein
      COG5189
      Location:114207
      SFP1; Putative transcriptional repressor regulating G2/M transition [Transcription / Cell division and chromosome partitioning]
      sd00017
      Location:735755
      ZF_C2H2; C2H2 Zn finger [structural motif]
      pfam00096
      Location:733755
      zf-C2H2; Zinc finger, C2H2 type
      pfam13465
      Location:747771
      zf-H2C2_2; Zinc-finger double domain
      pfam15909
      Location:163247
      zf-C2H2_8; C2H2-type zinc ribbon
    6. NM_001366466.1NP_001353395.1  histone-lysine N-methyltransferase MECOM isoform f

      Status: REVIEWED

      Source sequence(s)
      AC078985, AK308404, AL700380, DC417787
      Conserved Domains (6) summary
      PHA00733
      Location:845964
      PHA00733; hypothetical protein
      smart00317
      Location:80196
      SET; SET (Su(var)3-9, Enhancer-of-zeste, Trithorax) domain
      COG5189
      Location:302395
      SFP1; Putative transcriptional repressor regulating G2/M transition [Transcription / Cell division and chromosome partitioning]
      sd00017
      Location:914934
      ZF_C2H2; C2H2 Zn finger [structural motif]
      pfam13465
      Location:926950
      zf-H2C2_2; Zinc-finger double domain
      pfam15909
      Location:351435
      zf-C2H2_8; C2H2-type zinc ribbon
    7. NM_001366467.1NP_001353396.1  histone-lysine N-methyltransferase MECOM isoform g

      Status: REVIEWED

      Source sequence(s)
      AC078985, AK025934
      Conserved Domains (5) summary
      PHA00733
      Location:690786
      PHA00733; hypothetical protein
      sd00017
      Location:736756
      ZF_C2H2; C2H2 Zn finger [structural motif]
      pfam00096
      Location:734756
      zf-C2H2; Zinc finger, C2H2 type
      pfam13465
      Location:748772
      zf-H2C2_2; Zinc-finger double domain
      pfam15909
      Location:164248
      zf-C2H2_8; C2H2-type zinc ribbon
    8. NM_001366468.1NP_001353397.1  histone-lysine N-methyltransferase MECOM isoform g

      Status: REVIEWED

      Source sequence(s)
      AC078985, CN272058, DA229108, DB222598
      Conserved Domains (5) summary
      PHA00733
      Location:690786
      PHA00733; hypothetical protein
      sd00017
      Location:736756
      ZF_C2H2; C2H2 Zn finger [structural motif]
      pfam00096
      Location:734756
      zf-C2H2; Zinc finger, C2H2 type
      pfam13465
      Location:748772
      zf-H2C2_2; Zinc-finger double domain
      pfam15909
      Location:164248
      zf-C2H2_8; C2H2-type zinc ribbon
    9. NM_001366469.1NP_001353398.1  histone-lysine N-methyltransferase MECOM isoform b

      Status: REVIEWED

      Source sequence(s)
      AC078985, AK025934
      Conserved Domains (6) summary
      PHA00733
      Location:689785
      PHA00733; hypothetical protein
      COG5189
      Location:114207
      SFP1; Putative transcriptional repressor regulating G2/M transition [Transcription / Cell division and chromosome partitioning]
      sd00017
      Location:735755
      ZF_C2H2; C2H2 Zn finger [structural motif]
      pfam00096
      Location:733755
      zf-C2H2; Zinc finger, C2H2 type
      pfam13465
      Location:747771
      zf-H2C2_2; Zinc-finger double domain
      pfam15909
      Location:163247
      zf-C2H2_8; C2H2-type zinc ribbon
    10. NM_001366470.1NP_001353399.1  histone-lysine N-methyltransferase MECOM isoform d

      Status: REVIEWED

      Source sequence(s)
      AC078985, BC031019
      Conserved Domains (4) summary
      PHA00733
      Location:658777
      PHA00733; hypothetical protein
      sd00017
      Location:727747
      ZF_C2H2; C2H2 Zn finger [structural motif]
      pfam13465
      Location:739763
      zf-H2C2_2; Zinc-finger double domain
      pfam15909
      Location:164248
      zf-C2H2_8; C2H2-type zinc ribbon
    11. NM_001366471.1NP_001353400.1  histone-lysine N-methyltransferase MECOM isoform e

      Status: REVIEWED

      Source sequence(s)
      AC078985, AF487422, DA450456
      Conserved Domains (5) summary
      PHA00733
      Location:657776
      PHA00733; hypothetical protein
      COG5189
      Location:114207
      SFP1; Putative transcriptional repressor regulating G2/M transition [Transcription / Cell division and chromosome partitioning]
      sd00017
      Location:726746
      ZF_C2H2; C2H2 Zn finger [structural motif]
      pfam13465
      Location:738762
      zf-H2C2_2; Zinc-finger double domain
      pfam15909
      Location:163247
      zf-C2H2_8; C2H2-type zinc ribbon
    12. NM_001366472.1NP_001353401.1  histone-lysine N-methyltransferase MECOM isoform e

      Status: REVIEWED

      Source sequence(s)
      AC078985
      Conserved Domains (5) summary
      PHA00733
      Location:657776
      PHA00733; hypothetical protein
      COG5189
      Location:114207
      SFP1; Putative transcriptional repressor regulating G2/M transition [Transcription / Cell division and chromosome partitioning]
      sd00017
      Location:726746
      ZF_C2H2; C2H2 Zn finger [structural motif]
      pfam13465
      Location:738762
      zf-H2C2_2; Zinc-finger double domain
      pfam15909
      Location:163247
      zf-C2H2_8; C2H2-type zinc ribbon
    13. NM_001366473.1NP_001353402.1  histone-lysine N-methyltransferase MECOM isoform h

      Status: REVIEWED

      Source sequence(s)
      AC078985, AL700380, BC031019, BG427944, DB225328, DC417787
      Conserved Domains (4) summary
      smart00317
      Location:80196
      SET; SET (Su(var)3-9, Enhancer-of-zeste, Trithorax) domain
      COG5048
      Location:289631
      COG5048; FOG: Zn-finger [General function prediction only]
      sd00017
      Location:590610
      ZF_C2H2; C2H2 Zn finger [structural motif]
      pfam13465
      Location:630656
      zf-H2C2_2; Zinc-finger double domain
    14. NM_001366474.1NP_001353403.1  histone-lysine N-methyltransferase MECOM isoform i

      Status: REVIEWED

      Source sequence(s)
      AC078985, BF035536, BG427944, BX482681, DA588194, DA738166, DT219127
      Conserved Domains (4) summary
      PHA00733
      Location:333452
      PHA00733; hypothetical protein
      COG5048
      Location:101443
      COG5048; FOG: Zn-finger [General function prediction only]
      sd00017
      Location:402422
      ZF_C2H2; C2H2 Zn finger [structural motif]
      pfam13465
      Location:414438
      zf-H2C2_2; Zinc-finger double domain
    15. NM_004991.3NP_004982.2  histone-lysine N-methyltransferase MECOM isoform c

      Status: REVIEWED

      Description
      Transcript Variant: This variant (4, also known as MDS1/EVI1) differs in the 5' UTR and 5' coding region, and uses an alternate in-frame splice site in the central coding region, compared to variant 1. The encoded isoform (c) has a distinct N-terminus and is longer than isoform a. There are no publicly available full-length transcripts representing this variant, but it is supported by cloning evidence in PMID:11050005.
      Source sequence(s)
      AA043944, AK304098, AL700380, BC130520, BX647613, CR541866, DC348381
      UniProtKB/Swiss-Prot
      Q03112, Q13465
      Related
      ENSP00000498411.1, ENST00000651503.1
      Conserved Domains (5) summary
      smart00317
      Location:80196
      SET; SET (Su(var)3-9, Enhancer-of-zeste, Trithorax) domain
      sd00017
      Location:923943
      ZF_C2H2; C2H2 Zn finger [structural motif]
      pfam00096
      Location:921943
      zf-C2H2; Zinc finger, C2H2 type
      pfam13465
      Location:935959
      zf-H2C2_2; Zinc-finger double domain
      pfam15909
      Location:351432
      zf-C2H2_8; C2H2-type zinc ribbon
    16. NM_005241.3NP_005232.2  histone-lysine N-methyltransferase MECOM isoform b

      See identical proteins and their annotated locations for NP_005232.2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2, also known as EVI1_1c) lacks a portion of the 5' UTR and 5' coding region, initiates translation at a downstream start codon, and uses an alternate in-frame splice site in the central coding region, compared to variant 1. The encoded isoform (b) is shorter at the N-terminus compared to isoform a. Variants 2, 3, and 7 all encode the same isoform.
      Source sequence(s)
      AA043944, AC078985, BC130520, BX647613, X54989
      Consensus CDS
      CCDS3205.1
      UniProtKB/Swiss-Prot
      Q03112
      Related
      ENSP00000486104.1, ENST00000628990.2
      Conserved Domains (6) summary
      PHA00733
      Location:689785
      PHA00733; hypothetical protein
      COG5189
      Location:114207
      SFP1; Putative transcriptional repressor regulating G2/M transition [Transcription / Cell division and chromosome partitioning]
      sd00017
      Location:735755
      ZF_C2H2; C2H2 Zn finger [structural motif]
      pfam00096
      Location:733755
      zf-C2H2; Zinc finger, C2H2 type
      pfam13465
      Location:747771
      zf-H2C2_2; Zinc-finger double domain
      pfam15909
      Location:163247
      zf-C2H2_8; C2H2-type zinc ribbon

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p12 Primary Assembly

    Genomic

    1. NC_000003.12 Reference GRCh38.p12 Primary Assembly

      Range
      169083499..169663781 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_005247225.4XP_005247282.1  MDS1 and EVI1 complex locus protein EVI1 isoform X11

      Conserved Domains (5) summary
      smart00317
      Location:80196
      SET; SET (Su(var)3-9, Enhancer-of-zeste, Trithorax) domain
      COG5048
      Location:289640
      COG5048; FOG: Zn-finger [General function prediction only]
      sd00017
      Location:599619
      ZF_C2H2; C2H2 Zn finger [structural motif]
      pfam00096
      Location:597619
      zf-C2H2; Zinc finger, C2H2 type
      pfam13465
      Location:611635
      zf-H2C2_2; Zinc-finger double domain
    2. XM_005247224.3XP_005247281.1  MDS1 and EVI1 complex locus protein EVI1 isoform X10

      Conserved Domains (5) summary
      smart00317
      Location:80196
      SET; SET (Su(var)3-9, Enhancer-of-zeste, Trithorax) domain
      COG5048
      Location:289641
      COG5048; FOG: Zn-finger [General function prediction only]
      sd00017
      Location:600620
      ZF_C2H2; C2H2 Zn finger [structural motif]
      pfam00096
      Location:598620
      zf-C2H2; Zinc finger, C2H2 type
      pfam13465
      Location:612636
      zf-H2C2_2; Zinc-finger double domain
    3. XM_005247214.3XP_005247271.1  MDS1 and EVI1 complex locus protein EVI1 isoform X2

      Conserved Domains (6) summary
      PHA00733
      Location:846965
      PHA00733; hypothetical protein
      smart00317
      Location:80196
      SET; SET (Su(var)3-9, Enhancer-of-zeste, Trithorax) domain
      sd00017
      Location:915935
      ZF_C2H2; C2H2 Zn finger [structural motif]
      pfam00096
      Location:913935
      zf-C2H2; Zinc finger, C2H2 type
      pfam13465
      Location:927951
      zf-H2C2_2; Zinc-finger double domain
      pfam15909
      Location:352433
      zf-C2H2_8; C2H2-type zinc ribbon
    4. XM_005247213.3XP_005247270.1  MDS1 and EVI1 complex locus protein EVI1 isoform X1

      Conserved Domains (5) summary
      smart00317
      Location:80196
      SET; SET (Su(var)3-9, Enhancer-of-zeste, Trithorax) domain
      sd00017
      Location:924944
      ZF_C2H2; C2H2 Zn finger [structural motif]
      pfam00096
      Location:922944
      zf-C2H2; Zinc finger, C2H2 type
      pfam13465
      Location:936960
      zf-H2C2_2; Zinc-finger double domain
      pfam15909
      Location:352433
      zf-C2H2_8; C2H2-type zinc ribbon
    5. XM_005247215.3XP_005247272.1  MDS1 and EVI1 complex locus protein EVI1 isoform X3

      UniProtKB/TrEMBL
      E7EQ57
      Related
      ENSP00000417899.1, ENST00000494292.6
      Conserved Domains (6) summary
      PHA00733
      Location:845964
      PHA00733; hypothetical protein
      smart00317
      Location:80196
      SET; SET (Su(var)3-9, Enhancer-of-zeste, Trithorax) domain
      COG5189
      Location:302395
      SFP1; Putative transcriptional repressor regulating G2/M transition [Transcription / Cell division and chromosome partitioning]
      sd00017
      Location:914934
      ZF_C2H2; C2H2 Zn finger [structural motif]
      pfam13465
      Location:926950
      zf-H2C2_2; Zinc-finger double domain
      pfam15909
      Location:351435
      zf-C2H2_8; C2H2-type zinc ribbon
    6. XM_017005877.1XP_016861366.1  MDS1 and EVI1 complex locus protein EVI1 isoform X12

    7. XM_005247226.3XP_005247283.1  MDS1 and EVI1 complex locus protein EVI1 isoform X13

      Conserved Domains (4) summary
      smart00317
      Location:80196
      SET; SET (Su(var)3-9, Enhancer-of-zeste, Trithorax) domain
      COG5048
      Location:289631
      COG5048; FOG: Zn-finger [General function prediction only]
      sd00017
      Location:590610
      ZF_C2H2; C2H2 Zn finger [structural motif]
      pfam13465
      Location:630656
      zf-H2C2_2; Zinc-finger double domain
    8. XM_011512546.2XP_011510848.1  MDS1 and EVI1 complex locus protein EVI1 isoform X4

      Conserved Domains (5) summary
      smart00317
      Location:280
      SET; SET (Su(var)3-9, Enhancer-of-zeste, Trithorax) domain
      sd00017
      Location:808828
      ZF_C2H2; C2H2 Zn finger [structural motif]
      pfam00096
      Location:806828
      zf-C2H2; Zinc finger, C2H2 type
      pfam13465
      Location:820844
      zf-H2C2_2; Zinc-finger double domain
      pfam15909
      Location:236317
      zf-C2H2_8; C2H2-type zinc ribbon
    9. XM_005247223.3XP_005247280.1  MDS1 and EVI1 complex locus protein EVI1 isoform X7

      UniProtKB/Swiss-Prot
      Q03112
      Conserved Domains (6) summary
      PHA00733
      Location:689785
      PHA00733; hypothetical protein
      COG5189
      Location:114207
      SFP1; Putative transcriptional repressor regulating G2/M transition [Transcription / Cell division and chromosome partitioning]
      sd00017
      Location:735755
      ZF_C2H2; C2H2 Zn finger [structural motif]
      pfam00096
      Location:733755
      zf-C2H2; Zinc finger, C2H2 type
      pfam13465
      Location:747771
      zf-H2C2_2; Zinc-finger double domain
      pfam15909
      Location:163247
      zf-C2H2_8; C2H2-type zinc ribbon
    10. XM_017005876.2XP_016861365.1  MDS1 and EVI1 complex locus protein EVI1 isoform X9

      UniProtKB/Swiss-Prot
      Q03112
      Conserved Domains (4) summary
      PHA00733
      Location:658777
      PHA00733; hypothetical protein
      sd00017
      Location:727747
      ZF_C2H2; C2H2 Zn finger [structural motif]
      pfam13465
      Location:739763
      zf-H2C2_2; Zinc-finger double domain
      pfam15909
      Location:164248
      zf-C2H2_8; C2H2-type zinc ribbon
    11. XM_005247219.3XP_005247276.1  MDS1 and EVI1 complex locus protein EVI1 isoform X6

      UniProtKB/Swiss-Prot
      Q03112
      UniProtKB/TrEMBL
      A0A0C3SFZ7
      Conserved Domains (5) summary
      PHA00733
      Location:690786
      PHA00733; hypothetical protein
      sd00017
      Location:736756
      ZF_C2H2; C2H2 Zn finger [structural motif]
      pfam00096
      Location:734756
      zf-C2H2; Zinc finger, C2H2 type
      pfam13465
      Location:748772
      zf-H2C2_2; Zinc-finger double domain
      pfam15909
      Location:164248
      zf-C2H2_8; C2H2-type zinc ribbon
    12. XM_005247221.2XP_005247278.1  MDS1 and EVI1 complex locus protein EVI1 isoform X6

      See identical proteins and their annotated locations for XP_005247278.1

      UniProtKB/Swiss-Prot
      Q03112
      UniProtKB/TrEMBL
      A0A0C3SFZ7
      Related
      ENSP00000420048.1, ENST00000472280.5
      Conserved Domains (5) summary
      PHA00733
      Location:690786
      PHA00733; hypothetical protein
      sd00017
      Location:736756
      ZF_C2H2; C2H2 Zn finger [structural motif]
      pfam00096
      Location:734756
      zf-C2H2; Zinc finger, C2H2 type
      pfam13465
      Location:748772
      zf-H2C2_2; Zinc-finger double domain
      pfam15909
      Location:164248
      zf-C2H2_8; C2H2-type zinc ribbon
    13. XM_005247220.2XP_005247277.1  MDS1 and EVI1 complex locus protein EVI1 isoform X6

      UniProtKB/Swiss-Prot
      Q03112
      UniProtKB/TrEMBL
      A0A0C3SFZ7
      Conserved Domains (5) summary
      PHA00733
      Location:690786
      PHA00733; hypothetical protein
      sd00017
      Location:736756
      ZF_C2H2; C2H2 Zn finger [structural motif]
      pfam00096
      Location:734756
      zf-C2H2; Zinc finger, C2H2 type
      pfam13465
      Location:748772
      zf-H2C2_2; Zinc-finger double domain
      pfam15909
      Location:164248
      zf-C2H2_8; C2H2-type zinc ribbon
    14. XM_017005874.1XP_016861363.1  MDS1 and EVI1 complex locus protein EVI1 isoform X5

      UniProtKB/Swiss-Prot
      Q03112
      Conserved Domains (5) summary
      smart00317
      Location:872
      SET; SET (Su(var)3-9, Enhancer-of-zeste, Trithorax) domain
      sd00017
      Location:800820
      ZF_C2H2; C2H2 Zn finger [structural motif]
      pfam00096
      Location:798820
      zf-C2H2; Zinc finger, C2H2 type
      pfam13465
      Location:812836
      zf-H2C2_2; Zinc-finger double domain
      pfam15909
      Location:228309
      zf-C2H2_8; C2H2-type zinc ribbon
    15. XM_017005878.2XP_016861367.1  MDS1 and EVI1 complex locus protein EVI1 isoform X14

      Conserved Domains (4) summary
      PHA00733
      Location:333452
      PHA00733; hypothetical protein
      COG5048
      Location:101443
      COG5048; FOG: Zn-finger [General function prediction only]
      sd00017
      Location:402422
      ZF_C2H2; C2H2 Zn finger [structural motif]
      pfam13465
      Location:414438
      zf-H2C2_2; Zinc-finger double domain
    16. XM_017005875.1XP_016861364.1  MDS1 and EVI1 complex locus protein EVI1 isoform X8

      UniProtKB/Swiss-Prot
      Q03112
      Related
      ENSP00000420466.1, ENST00000460814.5
      Conserved Domains (5) summary
      PHA00733
      Location:657776
      PHA00733; hypothetical protein
      COG5189
      Location:114207
      SFP1; Putative transcriptional repressor regulating G2/M transition [Transcription / Cell division and chromosome partitioning]
      sd00017
      Location:726746
      ZF_C2H2; C2H2 Zn finger [structural motif]
      pfam13465
      Location:738762
      zf-H2C2_2; Zinc-finger double domain
      pfam15909
      Location:163247
      zf-C2H2_8; C2H2-type zinc ribbon
    17. XM_024453394.1XP_024309162.1  MDS1 and EVI1 complex locus protein EVI1 isoform X8

      Conserved Domains (5) summary
      PHA00733
      Location:657776
      PHA00733; hypothetical protein
      COG5189
      Location:114207
      SFP1; Putative transcriptional repressor regulating G2/M transition [Transcription / Cell division and chromosome partitioning]
      sd00017
      Location:726746
      ZF_C2H2; C2H2 Zn finger [structural motif]
      pfam13465
      Location:738762
      zf-H2C2_2; Zinc-finger double domain
      pfam15909
      Location:163247
      zf-C2H2_8; C2H2-type zinc ribbon
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