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    kmt2a lysine (K)-specific methyltransferase 2A [ Danio rerio (zebrafish) ]

    Gene ID: 557048, updated on 2-Nov-2024

    Summary

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    Official Symbol
    kmt2aprovided by ZNC
    Official Full Name
    lysine (K)-specific methyltransferase 2Aprovided by ZNC
    Primary source
    ZFIN:ZDB-GENE-080521-3
    See related
    Ensembl:ENSDARG00000004537 AllianceGenome:ZFIN:ZDB-GENE-080521-3
    Gene type
    protein coding
    RefSeq status
    PROVISIONAL
    Organism
    Danio rerio
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Actinopterygii; Neopterygii; Teleostei; Ostariophysi; Cypriniformes; Danionidae; Danioninae; Danio
    Also known as
    mll; im:7148357
    Summary
    Predicted to enable histone H3K4 methyltransferase activity. Acts upstream of or within glial cell development; nucleate erythrocyte development; and paraxial mesoderm development. Predicted to be located in nucleus. Predicted to be part of histone methyltransferase complex. Is expressed in several structures, including blastoderm; blastodisc; intermediate cell mass of mesoderm; nervous system; and renal system. Human ortholog(s) of this gene implicated in acute myeloid leukemia; cervical cancer; myelofibrosis; and non-Hodgkin lymphoma. Orthologous to human KMT2A (lysine methyltransferase 2A). [provided by Alliance of Genome Resources, Nov 2024]
    Orthologs
    human mouse all
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    Genomic context

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    See kmt2a in Genome Data Viewer
    Location:
    chromosome: 15
    Exon count:
    35
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCz11 (GCF_000002035.6) 15 NC_007126.7 (23379390..23420096, complement)
    105 previous assembly GRCz10 (GCF_000002035.5) 15 NC_007126.6 (23444235..23484973, complement)

    Chromosome 15 - NC_007126.7Genomic Context describing neighboring genes Neighboring gene ring finger protein 26 Neighboring gene C1q and TNF related 5 Neighboring gene ubiquitination factor E4A (UFD2 homolog, yeast) Neighboring gene 5-phosphohydroxy-L-lysine phospho-lyase

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: Sequencing the Zebrafish transcriptome from a range of tissues and developmental stages Sequencing the Zebrafish transcriptome from a range of tissues and developmental stages
    • Description: Sequencing the Zebrafish transcriptome from a range of tissues and developmental stages
    • BioProject: PRJEB1986
    • Analysis date: Fri Dec 8 19:48:10 2017

    Bibliography

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    Related articles in PubMed

    1. mll ortholog containing functional domains of human MLL is expressed throughout the zebrafish lifespan and in haematopoietic tissues. Robinson BW, et al. Br J Haematol, 2011 Feb. PMID 21155757, Free PMC Article
    2. The 8-oxoguanine DNA glycosylase 1 (ogg1) decreases the vulnerability of the developing brain to DNA damage. Gu A, et al. DNA Repair (Amst), 2013 Dec. PMID 24075420
    3. The epigenetic factor Kmt2a/Mll1 regulates neural progenitor proliferation and neuronal and glial differentiation. Huang YC, et al. Dev Neurobiol, 2015 May. PMID 25284327
    4. Human MLL-AF9 Overexpression Induces Aberrant Hematopoietic Expansion in Zebrafish. Tan J, et al. Biomed Res Int, 2018. PMID 30003105, Free PMC Article
    5. Isoflucypram cardiovascular toxicity in zebrafish (Danio rerio). Chen X, et al. Sci Total Environ, 2021 Sep 15. PMID 33991914

    See all (16) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. revealed a novel function of Kmt2a in cell proliferation and differentiation
      Title: The epigenetic factor Kmt2a/Mll1 regulates neural progenitor proliferation and neuronal and glial differentiation.
    2. Zebrafish mll plays essential roles in hematopoiesis.
      Title: Zebrafish mll gene is essential for hematopoiesis.
    Submit: New GeneRIF Correction

    General gene information

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    Markers

    Homology

    Gene Ontology Provided by ZFIN

    Function Evidence Code Pubs
    enables DNA binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables histone H3K4 methyltransferase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables histone H3K4 methyltransferase activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables histone H3K4 monomethyltransferase activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables metal ion binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables methyltransferase activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables transferase activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables zinc ion binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    Process Evidence Code Pubs
    acts_upstream_of_or_within chromatin organization IEA
    Inferred from Electronic Annotation
    more info
    		  
    acts_upstream_of_or_within glial cell development IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    acts_upstream_of_or_within hemopoiesis IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    acts_upstream_of_or_within methylation IEA
    Inferred from Electronic Annotation
    more info
    		  
    acts_upstream_of_or_within neurogenesis IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    acts_upstream_of_or_within nucleate erythrocyte development IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    acts_upstream_of_or_within paraxial mesoderm development IGI
    Inferred from Genetic Interaction
    more info
    		 PubMed 
    involved_in positive regulation of DNA-templated transcription IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    acts_upstream_of_or_within regulation of DNA-templated transcription IEA
    Inferred from Electronic Annotation
    more info
    		  
    Component Evidence Code Pubs
    part_of histone methyltransferase complex IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    part_of histone methyltransferase complex IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in nucleus IEA
    Inferred from Electronic Annotation
    more info
    		  

    General protein information

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    Preferred Names
    histone-lysine N-methyltransferase 2A
    Names
    mixed-lineage leukemia-like protein
    myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila)
    myeloid/lymphoid or mixed-lineage leukemia protein
    NP_001103749.1
    XP_005157640.1

    NCBI Reference Sequences (RefSeq)

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    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.

    mRNA and Protein(s)

    1. NM_001110279.1 → NP_001103749.1  histone-lysine N-methyltransferase 2A

      See identical proteins and their annotated locations for NP_001103749.1

      Status: PROVISIONAL

      Source sequence(s)
      EU179544
      UniProtKB/TrEMBL
      A8VKP8
      Related
      ENSDARP00000123761.1, ENSDART00000148840.2
      Conserved Domains (11) summary
      cd05493
      Location:1841 → 1971
      Bromo_ALL-1; Bromodomain, ALL-1 like proteins. ALL-1 is a vertebrate homologue of Drosophila trithorax and is often affected in chromosomal rearrangements that are linked to acute leukemias, such as acute lymphocytic leukemia (ALL). Bromodomains are found in many ...
      smart00542
      Location:3918 → 4001
      FYRC; FY-rich domain, C-terminal region
      smart00317
      Location:4080 → 4200
      SET; SET (Su(var)3-9, Enhancer-of-zeste, Trithorax) domain
      smart00508
      Location:4202 → 4218
      PostSET; Cysteine-rich motif following a subset of SET domains
      COG2940
      Location:4059 → 4218
      SET; SET domain-containing protein (function unknown) [General function prediction only]
      pfam02008
      Location:1312 → 1359
      zf-CXXC; CXXC zinc finger domain
      cd15590
      Location:1675 → 1724
      PHD2_KMT2A; PHD finger 2 found in histone-lysine N-methyltransferase 2A (KMT2A)
      cd15592
      Location:1762 → 1818
      PHD3_KMT2A; PHD finger 3 found in histone-lysine N-methyltransferase 2A (KMT2A)
      cd15693
      Location:2066 → 2178
      ePHD_KMT2A; Extended PHD finger found in histone-lysine N-methyltransferase 2A (KMT2A)
      pfam05964
      Location:2220 → 2266
      FYRN; F/Y-rich N-terminus
      cl22851
      Location:1627 → 1673
      PHD_SF; PHD finger superfamily

    RefSeqs of Annotated Genomes: GCF_000002035.6-RS_2024_08

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

    Reference GRCz11 Primary Assembly

    Genomic

    1. NC_007126.7 Reference GRCz11 Primary Assembly

      Range
      23379390..23420096 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_005157583.5 → XP_005157640.1  histone-lysine N-methyltransferase 2A isoform X1

      UniProtKB/TrEMBL
      A0A8M2B3W9, F1QL52
      Related
      ENSDARP00000095298.3, ENSDART00000104525.5
      Conserved Domains (11) summary
      cd05493
      Location:1841 → 1971
      Bromo_ALL-1; Bromodomain, ALL-1 like proteins. ALL-1 is a vertebrate homologue of Drosophila trithorax and is often affected in chromosomal rearrangements that are linked to acute leukemias, such as acute lymphocytic leukemia (ALL). Bromodomains are found in many ...
      smart00542
      Location:3919 → 4002
      FYRC; FY-rich domain, C-terminal region
      smart00317
      Location:4081 → 4201
      SET; SET (Su(var)3-9, Enhancer-of-zeste, Trithorax) domain
      smart00508
      Location:4203 → 4219
      PostSET; Cysteine-rich motif following a subset of SET domains
      COG2940
      Location:4060 → 4219
      SET; SET domain-containing protein (function unknown) [General function prediction only]
      pfam02008
      Location:1312 → 1359
      zf-CXXC; CXXC zinc finger domain
      cd15588
      Location:1627 → 1673
      PHD1_KMT2A; PHD finger 1 found in histone-lysine N-methyltransferase 2A (KMT2A)
      cd15590
      Location:1675 → 1724
      PHD2_KMT2A; PHD finger 2 found in histone-lysine N-methyltransferase 2A (KMT2A)
      cd15592
      Location:1762 → 1818
      PHD3_KMT2A; PHD finger 3 found in histone-lysine N-methyltransferase 2A (KMT2A)
      cd15693
      Location:2066 → 2178
      ePHD_KMT2A; Extended PHD finger found in histone-lysine N-methyltransferase 2A (KMT2A)
      pfam05964
      Location:2220 → 2266
      FYRN; F/Y-rich N-terminus
    Nucleotide Protein
    Heading Accession and Version

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