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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

MLL5 Gene

protein-coding   GIFtS: 53
GCID: GC07P104654

myeloid/lymphoid or mixed-lineage leukemia 5 (trithorax...

 Explore 9 diseases affiliated with
MLL5 via our new
 Human Malady Compendium 
Biological research products
for MLL5
    

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section

Aliases
Myeloid/Lymphoid Or Mixed-Lineage Leukemia 5 (Trithorax Homolog,
Drosophila)1 2
     Myeloid/Lymphoid Or Mixed-Lineage Leukemia Protein 52 3
KMT2E1 2 3     Histone-Lysine N-Methyltransferase MLL52
HDCMC04P1 2     EC 2.1.1.433
Lysine N-Methyltransferase 2E2 3     

External Ids:    HGNC: 185411   Entrez Gene: 559042   Ensembl: ENSG000000054837   OMIM: 6084445   UniProtKB: Q8IZD23   

Export aliases for MLL5 gene to outside databases

Previous GC identifers: GC07P103138 GC07P104201 GC07P104215 GC07P104248 GC07P104441 GC07P099014


(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary for MLL5:
This gene is a member of the myeloid/lymphoid or mixed-lineage leukemia (MLL) family and encodes a protein with an
N-terminal PHD zinc finger and a central SET domain. Overexpression of the protein inhibits cell cycle progression.
Alternate transcriptional splice variants have been characterized. (provided by RefSeq, Jul 2008)

UniProtKB/Swiss-Prot: MLL5_HUMAN, Q8IZD2
Function: Histone methyltransferase that specifically mono- and dimethylates 'Lys-4' of histone H3 (H3K4me1 and
H3K4me2). H3 'Lys-4' methylation represents a specific tag for epigenetic transcriptional activation. Key regulator of
hematopoiesis involved in terminal myeloid differentiation and in the regulation of hematopoietic stem cell (HSCs)
self-renewal by a mechanism that involves DNA methylation. Plays an essential role in retinoic-acid-induced
granulopoiesis by acting as a coactivator of RAR-alpha (RARA) in target gene promoters. Also acts as an important cell
cycle regulator, participating in cell cycle regulatory network machinery at multiple cell cycle stages. Required to
suppress inappropriate expression of S-phase-promoting genes and maintain expression of determination genes in
quiescent cells. Overexpression inhibits cell cycle progression, while knockdown induces cell cycle arrest at both the
G1 and G2/M phases




(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000007.13  NC_018918.1  NT_007933.15  NT_079596.2  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the MLL5 gene promoter:
         E2F-4   E2F-3a   E2F-5   Pax-5   E2F-2   NF-kappaB   E2F-1   E2F   HOXA5   NF-kappaB1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmids (see all 9): MLL5 promoter sequence
   Search SABiosciences Chromatin IP Primers for MLL5

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat MLL5


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 7q22.1   Ensembl cytogenetic band:  7q22.3   HGNC cytogenetic band: 7q22.1

MLL5 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
MLL5 gene location

GeneLoc information about chromosome 7         GeneLoc Exon Structure

GeneLoc location for GC07P104654:  view genomic region     (about GC identifiers)

Start:
104,654,626 bp from pter      End:
104,754,808 bp from pter
Size:
100,183 bases      Orientation:
plus strand

1 alternative location:
Chr7+,CRA_TCAG 104,015,330-104,115,205     

(According to 1UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to 2PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section

UniProtKB/Swiss-Prot: MLL5_HUMAN, Q8IZD2 (See protein sequence)
Recommended Name: Histone-lysine N-methyltransferase MLL5  
Size: 1858 amino acids; 204965 Da
Subunit: Component of the MLL5-L complex, at least composed of MLL5, STK38, PPP1CA, PPP1CB, PPP1CC, HCFC1, ACTB and
OGT. Interacts with RARA
Subcellular location: Nucleus speckle. Note=Absent from the nucleolus
Sequence caution: Sequence=AAH01296.1; Type=Miscellaneous discrepancy; Note=Contaminating sequence. Potential poly-A
sequence starting in position 492; Sequence=AAH40004.1; Type=Miscellaneous discrepancy; Note=Contaminating sequence.
Potential poly-A sequence starting in position 227; Sequence=AAH53906.1; Type=Miscellaneous discrepancy;
Note=Contaminating sequence. Potential poly-A sequence starting in position 227; Sequence=AAI42988.1;
Type=Miscellaneous discrepancy; Note=Contaminating sequence. Potential poly-A sequence starting in position 492;
1 PDB 3D structure from and Proteopedia for MLL5:
2LV9 (3D)    
Secondary accessions: B6ZDE4 B6ZDM3 Q6P5Y2 Q6PKG4 Q6T316 Q86TI3 Q86W12 Q86WG0 Q86WL2 Q8IV78 Q8IWR5
Q8NFF8 Q9NWE7
Alternative splicing: 7 isoforms:  Q8IZD2-1   Q8IZD2-2   Q8IZD2-3   Q8IZD2-4   Q8IZD2-5   Q8IZD2-6   Q8IZD2-7   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for MLL5: NX_Q8IZD2

Post-translational modifications:

  • O-glycosylation at Thr-440 in the SET domain by OGT is essential for the histone methyltransferase and the coactivator
  • activity toward RARA in granulopoiesis. The absence of Thr-440 glycosylation in assays done in vitro may explain why
    some authors did not detected any histone methyltransferase activity for this protein1
  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_Q8IZD2

  • MLL5 Protein expression data from MOPED and PaxDb:    About this image 
    MLL5 Protein Expression
    REFSEQ proteins (2 alternative transcripts): 
    NP_061152.3  NP_891847.1  

    ENSEMBL proteins: 
     ENSP00000312379   ENSP00000335398   ENSP00000419883   ENSP00000420415   ENSP00000417888  
     ENSP00000420206   ENSP00000417193   ENSP00000419525   ENSP00000417156   ENSP00000335599  
     ENSP00000257745   ENSP00000333986  

    Human Recombinant Protein Products for MLL5: 
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    Novus Biologicals MLL5 Lysates
    Browse Sino Biological Recombinant Proteins
    Browse ProSpec Recombinant Proteins
    Uscn Proteins for MLL5

    Gene Ontology (GO): 2 cellular component terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0016607nuclear speck IEA--
    GO:0070688MLL5-L complex IDA19377461

    MLL5 for ontologies           About GeneDecksing



    MLL5 Antibody Products: 
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    Search ThermoFisher Antibodies for MLL5

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    Browse R&D Systems for biochemical assays
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    Uscn ELISAs and CLIAs for MLL5


    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section

    MLL5 for domains           About GeneDecksing

    5/6 InterPro domains/families (see all 6):
     IPR001214 SET_dom
     IPR001965 Znf_PHD
     IPR013083 Znf_RING/FYVE/PHD
     IPR019786 Zinc_finger_PHD-type_CS
     IPR011011 Znf_FYVE_PHD

    Graphical View of Domain Structure for InterPro Entry Q8IZD2

    ProtoNet protein and cluster: Q8IZD2

    1 Blocks protein family: IPB001214 Nuclear protein SET

    UniProtKB/Swiss-Prot: MLL5_HUMAN, Q8IZD2
    Similarity: Belongs to the histone-lysine methyltransferase family. TRX/MLL subfamily
    Similarity: Contains 1 PHD-type zinc finger
    Similarity: Contains 1 SET domain


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, Sirion Biotech, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, Sirion Biotech, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
    About This Section

    Molecular Function:

         UniProtKB/Swiss-Prot Summary: MLL5_HUMAN, Q8IZD2
    Function: Histone methyltransferase that specifically mono- and dimethylates 'Lys-4' of histone H3 (H3K4me1 and
    H3K4me2). H3 'Lys-4' methylation represents a specific tag for epigenetic transcriptional activation. Key regulator of
    hematopoiesis involved in terminal myeloid differentiation and in the regulation of hematopoietic stem cell (HSCs)
    self-renewal by a mechanism that involves DNA methylation. Plays an essential role in retinoic-acid-induced
    granulopoiesis by acting as a coactivator of RAR-alpha (RARA) in target gene promoters. Also acts as an important cell
    cycle regulator, participating in cell cycle regulatory network machinery at multiple cell cycle stages. Required to
    suppress inappropriate expression of S-phase-promoting genes and maintain expression of determination genes in
    quiescent cells. Overexpression inhibits cell cycle progression, while knockdown induces cell cycle arrest at both the
    G1 and G2/M phases
    Catalytic activity: S-adenosyl-L-methionine + L-lysine-[histone] = S-adenosyl-L-homocysteine +
    N(6)-methyl-L-lysine-[histone]

         Enzyme Number (IUBMB): EC 2.1.1.431

         Gene Ontology (GO): 5 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003713transcription coactivator activity IMP19377461
    GO:0005515protein binding IPI--
    GO:0008270zinc ion binding IEA--
    GO:0019899enzyme binding IPI19377461
    GO:0042800histone methyltransferase activity (H3-K4 specific) IDA19377461
         
    MLL5 for ontologies           About GeneDecksing


    Phenotypes:
         2 GenomeRNAi human phenotypes for MLL5:
     Cell division defect  Increased 8N DNA content 

         10 MGI mutant phenotypes (inferred from 4 alleles(MGI details for Mll5):
     adipose tissue  cellular  endocrine/exocrine gland  growth/size  hematopoietic system 
     immune system  mortality/aging  no phenotypic analysis  reproductive system  vision/eye 

    MLL5 for phenotypes           About GeneDecksing

    Animal Models:
         Mouse knock-outs for MLL5: Mll5tm1Nik Mll5tm1.1Hjf Mll5tm1Apa
       inGenious Targeting Laboratory - Customizable classic, inducible, and humanized mouse model solutions for MLL5 

    miRNA
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    hsa-miR-323-3p hsa-miR-3673 hsa-miR-892b hsa-miR-429 hsa-miR-520d-5p hsa-miR-548k hsa-miR-16-1* hsa-miR-888*
    SwitchGear 3'UTR luciferase reporter plasmidMLL5 3' UTR sequence
    Inhib. RNA
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    Gene Editing
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    In Situ Assay
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for MLL5


    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene).
    About This Section

    Unified GeneCards pathways  About this table 
    See pathways by source

    Super-pathwaycontained gene-specific pathways
    1Lysine degradation
    Lysine degradation1.00

    Pathway sources
    See GeneCards unified pathways
    Show all pathways



    1         Kegg Pathway  (Kegg details for MLL5):
        Lysine degradation


    MLL5 for pathways           About GeneDecksing

    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for MLL5

    STRING Interaction Network Preview (showing 5 interactants - click image to see 14)

    5/16 Interacting proteins for MLL5 (Q8IZD21, 3 ENSP000002577454) via UniProtKB, MINT, STRING, and/or I2D (see all 16)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    TP53P046371, 3, ENSP000002693054EBI-2815322,EBI-366083 I2D: score=2 STRING: ENSP00000269305
    OGTO152941, ENSP000003628244EBI-2815322,EBI-539828 STRING: ENSP00000362824
    RARAP102761, ENSP000002540664EBI-2815322,EBI-413374 STRING: ENSP00000254066
    CDK1P064933I2D: score=1 
    MYBP102423I2D: score=1 
    About this table

    Gene Ontology (GO): 5/11 biological process terms (GO ID links to tree view) (see all 11):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0002446neutrophil mediated immunity ISS--
    GO:0006306DNA methylation ISS--
    GO:0006351transcription, DNA-dependent IEA--
    GO:0007050cell cycle arrest IEA--
    GO:0030218erythrocyte differentiation ISS--

    MLL5 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section
    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for MLL5

    1 HMDB Compound for MLL5    About this table
    CompoundSynonyms CAS #PubMed Ids
    S-Adenosylmethionine(3S)-5'-[(3-amino-3-carboxypropyl)methylsulfonio]-5'-deoxyadenosine (see all 16)29908-03-0--
    Search CenterWatch for drugs/clinical trials and news about MLL5 

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 235 Homo sapiens; Mar 10 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, Sirion Biotech, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for MLL5 gene (3 alternative transcripts): 
    NM_018682.3  NM_182931.2  NM_032187.1  

    Unigene Cluster for MLL5:

    Myeloid/lymphoid or mixed-lineage leukemia 5 (trithorax homolog, Drosophila)
    Hs.592262  [show with all ESTs]
    Unigene Representative Sequence: AY147037
    17 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000311117(uc003vcm.3 uc010ljc.3) ENST00000334884(uc010lje.1 uc010ljg.3)
    ENST00000478990 ENST00000480368 ENST00000495267 ENST00000476671(uc003vcl.3 uc003vco.1 uc010ljd.1)
    ENST00000474203 ENST00000482560 ENST00000485619 ENST00000468607 ENST00000496191
    ENST00000479838 ENST00000478079 ENST00000473063 ENST00000334877(uc010ljh.1)
    ENST00000257745(uc010ljf.1) ENST00000334914(uc010lja.1 uc010ljb.1)


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    8/32 QIAGEN miScript miRNA Assays for microRNAs that regulate MLL5 (see all 32):
    hsa-miR-323-3p hsa-miR-3673 hsa-miR-892b hsa-miR-429 hsa-miR-520d-5p hsa-miR-548k hsa-miR-16-1* hsa-miR-888*
    SwitchGear 3'UTR luciferase reporter plasmidMLL5 3' UTR sequence
    Inhib. RNA
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    Sirion Biotech Custom design and validation of potent shRNA sequences against MLL5 
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    Additional cDNA sequence: 

    AF067804.1 AF519459.1 AK000940.1 AY113691.1 AY147037.1 AY157990.1 AY195568.1 AY195569.1 
    AY211524.1 AY211525.1 AY222296.1 AY234382.1 AY438698.1 AY438699.1 BC001296.2 BC009061.1 
    BC016382.1 BC024658.1 BC040004.1 BC053906.1 BC062583.1 BC142987.1 

    24/40 DOTS entries (see all 40):

    DT.432386  DT.100826379  DT.100826386  DT.438802  DT.91744219  DT.100677445  DT.92431870  DT.100826383 
    DT.92049253  DT.101964660  DT.101983981  DT.75107219  DT.40246346  DT.100014365  DT.100826378  DT.100826380 
    DT.40107704  DT.95189368  DT.100029257  DT.100826381  DT.100826387  DT.111791  DT.121104592  DT.121104639 

    24/332 AceView cDNA sequences (see all 332):

    AY195568 AY157990 AI889066 BM828190 AU118478 BM720064 CD678360 BE044400 
    BI038002 BQ669579 AI522222 AA284354 AI359982 AA598873 N51350 AI204939 
    CB163402 H88527 CD671479 AA972166 Z39065 AY195569 AI362678 BF057819 

    GeneLoc Exon Structure

    5/14 Alternative Splicing Database (ASD) splice patterns (SP) for MLL5 (see all 14)    About this scheme

    ExUns: 1a · 1b · 1c · 1d · 1e · 1f · 1g ^ 2 ^ 3 ^ 4 ^ 5a · 5b · 5c ^ 6a · 6b · 6c ^ 7a · 7b · 7c ^ 8 ^ 9a · 9b ^ 10a · 10b ^ 11 ^ 12 ^
    SP1:                                                  -     -                 -                                   -                                             
    SP2:                                                                                                                                                            
    SP3:                                            -     -     -                 -                                   -                                             
    SP4:                                      -     -     -     -     -           -                                   -                                             
    SP5:                                -     -     -     -     -                 -                                   -                                             

    ExUns: 13 ^ 14 ^ 15 ^ 16 ^ 17 ^ 18 ^ 19a · 19b · 19c ^ 20 ^ 21a · 21b ^ 22 ^ 23 ^ 24 ^ 25 ^ 26 ^ 27 ^ 28 ^ 29
    SP1:                                                                                                                        
    SP2:                                                                    -     -                                             
    SP3:                                                                                                                        
    SP4:                                                                                                                        
    SP5:                                                                                                                        


    ECgene alternative splicing isoforms for MLL5

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    MLL5 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: TTAATAAATC
    MLL5 Expression
    About this image
    See MLL5 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for MLL5

    SOURCE GeneReport for Unigene cluster: Hs.592262

    UniProtKB/Swiss-Prot: MLL5_HUMAN, Q8IZD2
    Tissue specificity: Widely expressed in both adult and fetal tissues. Highest levels of expression observed in fetal
    thymus and kidney and in adult hematopoietic tissues, jejunum and cerebellum

        SABiosciences Expression via Pathway-Focused PCR Arrays including MLL5: 
              Epigenetic Chromatin Modification Enzymes in human mouse rat
              Polycomb & Trithorax Complexes in human mouse rat

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    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
    About This Section

    This gene was present in the common ancestor of animals.

    Orthologs for MLL5 gene from 6/18 species (see all 18)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    chicken
    (Gallus gallus)
    Aves MLL51 myeloid/lymphoid or mixed-lineage leukemia 5 (trithorax more 80.9(n)
    83.67(a)
      417712  XM_003640341.1  XP_003640389.1 
    lizard
    (Anolis carolinensis)
    Reptilia MLL56
    --
    81(a)
    1 ↔ 1
    5(96423199-96481891)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia Str.47492 Transcribed sequence with weak similarity to protein more 79.2(n)    BQ388536.1 
    zebrafish
    (Danio rerio)
    Actinopterygii wufc74b022 wufc74b02 78.7(n)   325395  BC057445.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta CG90076
    --
    11(a)
    1 → many
    3L(13995227-14013248)
    worm
    (Caenorhabditis elegans)
    Secernentea set-266
    set-96
    (see all 4)
    SET (trithorax/polycomb) domain containing family ...
    SET (trithorax/polycomb) domain containing family ...
    (see all 4)
    9(a)
    9(a)
    (see all 4)
    many ↔ many
    many ↔ many
    (see all 4)
    IV(16647092-16655800)
    IV(4307752-4317253)


    ENSEMBL Gene Tree for MLL5 (if available)
    TreeFam Gene Tree for MLL5 (if available) 

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for MLL5 gene
    SETD52  
    18/20 SIMAP similar genes for MLL5 using alignment to 10 protein entries:     MLL5_HUMAN (see all proteins) (see all similar genes):
    NEK4    UTY    SLMO1    UBE2V2    COQ5    KIAA0101
    GNB2L1    CLTA    AAMDC    CCDC122    GEMIN6    ATF1
    NCKAP1L    ADCK1    HC6    DKFZp686A20205    ASH1L    DYNC2LI1

    MLL5 for paralogs           About GeneDecksing



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/1745 NCBI SNPs in MLL5 are shown (see all 1745    About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 7 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs69508941,2
    C,F,H--104652671(+) AGGAAG/AAGTCT 3 -- us2k1 nc-transcript-varianttrp321Minor allele frequency- A:0.27NS EA NA WA CSA 2348
    rs772050341,2
    C,F--104652735(+) GTGTTC/TCTGGG 3 -- nc-transcript-variantus2k11Minor allele frequency- T:0.09WA 118
    rs1464465141,2
    --104652888(+) GAGGCC/TCTCAA 3 -- nc-transcript-variantus2k10--------
    rs1848282771,2
    --104652946(+) CATAAA/GTATAC 3 -- nc-transcript-variantus2k10--------
    rs1894383811,2
    --104652960(+) GCGGGC/GAGAAA 3 -- nc-transcript-variantus2k10--------
    rs1408463061,2
    --104652971(+) GGCAGA/GTAAGA 3 -- us2k1 nc-transcript-variant0--------
    rs1181874121,2
    F--104653027(+) GAGGAC/GTGTCC 3 -- nc-transcript-variantus2k11Minor allele frequency- G:0.03EA 120
    rs1813498721,2
    --104653067(+) TGTTCA/TGCCGT 3 -- nc-transcript-variantus2k10--------
    rs1836108381,2
    --104653081(+) GGGGAA/GGGGAA 3 -- us2k1 nc-transcript-variant0--------
    rs1883334041,2
    --104653110(+) TCTTCC/GTCTTC 3 -- us2k1 nc-transcript-variant0--------

    HapMap Linkage Disequilibrium report for MLL5 (104654626 - 104754808 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
    Database of Genomic Variants (DGV): 2 variations for MLL5
         1 CNV: 8577
         1 Indel: 59372
    Human Gene Mutation Database (HGMD): MLL5

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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section

    MLL5 for disorders           About GeneDecksing

    OMIM gene information: 608444    OMIM disorders: --

    9 diseases for MLL5:    About MalaCards
    leukemia    acute myeloid leukemia    myeloid leukemia    myeloid malignancy
    myelodysplastic syndrome    hematopoiesis    homocysteine    cervical cancer
    cervicitis


    Export disorders for MLL5 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
    About This Section

    PubMed articles for MLL5 gene, integrated from 9 sources (see all 20):
    (articles sorted by number of sources associating them with MLL5)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. MLL 5 protein forms intranuclear foci, and overexpression inhibits cell cycle progression. (PubMed id 14718661)1, 2, 9 Deng L.-W.... Strominger J.L. (2004)
    2. GlcNAcylation of a histone methyltransferase in retinoic-acid-induced granulopoiesis. (PubMed id 19377461)1, 2 Fujiki R.... Kato S. (2009)
    3. RNA interference against mixed lineage leukemia 5 resulted in cell cycle arrest. (PubMed id 18573682)1, 2 Cheng F.... Deng L.-W. (2008)
    4. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (2004)
    5. MLL5, a homolog of Drosophila trithorax located within a segment of chromosome band 7q22 implicated in myeloid leukemia. (PubMed id 12101424)1, 2 Emerling B.M.... Shannon K.M. (2002)
    6. Monosomy 7 and 7q--associated with myeloid malignancy. (PubMed id 9218106)1, 3 Johnson E. and Cotter F.E. (1997)
    7. Myelodysplastic syndromes: the pediatric point of view. (PubMed id 7672722)1, 3 Locatelli F....Severi F. (1995)
    8. Prognostic importance of histone methyltransferase ML L5 expression in acute myeloid leukemia. (PubMed id 21205756)1 Damm F....Heuser M. (2011)
    9. A novel MLL5 isoform that is essential to activate E6 and E7 transcription in HPV16/18-associated cervical cancers. (PubMed id 21908553)1 Yew C.W....Deng L.W. (2011)
    10. Camptothecin-induced downregulation of MLL5 contribut es to the activation of tumor suppressor p53. (PubMed id 21423215)1 Cheng F....Deng L.W. (2011)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 55904 HGNC: 18541 AceView: MLL5 Ensembl:ENSG00000005483 euGenes: HUgn55904
    ECgene: MLL5 Kegg: 55904 H-InvDB: MLL5

    (According to HUGE)
    About This Section
      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for MLL5 Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for MLL5 Genetics and Cytogenetics in Oncology and Haematology

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for MLL5 gene:
    Search GeneIP for patents involving MLL5

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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