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MLLT10 MLLT10 histone lysine methyltransferase DOT1L cofactor [ Homo sapiens (human) ]

Gene ID: 8028, updated on 5-Mar-2024

Summary

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Official Symbol
MLLT10provided by HGNC
Official Full Name
MLLT10 histone lysine methyltransferase DOT1L cofactorprovided by HGNC
Primary source
HGNC:HGNC:16063
See related
Ensembl:ENSG00000078403 MIM:602409; AllianceGenome:HGNC:16063
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
AF10
Summary
This gene encodes a transcription factor and has been identified as a partner gene involved in several chromosomal rearrangements resulting in various leukemias. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2010]
Expression
Broad expression in testis (RPKM 40.9), ovary (RPKM 8.6) and 23 other tissues See more
Orthologs
mouse all
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Genomic context

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Location:
10p12.31
Exon count:
30
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 10 NC_000010.11 (21533756..21743630)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 10 NC_060934.1 (21552866..21762703)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 10 NC_000010.10 (21822685..22032559)

Chromosome 10 - NC_000010.11Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 2188 Neighboring gene ReSE screen-validated silencer GRCh37_chr10:21793394-21793626 Neighboring gene MIR1915 host gene Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 2189 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr10:21814003-21814646 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr10:21814647-21815290 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 2191 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 2192 Neighboring gene ReSE screen-validated silencer GRCh37_chr10:21816390-21816548 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr10:21817867-21818510 Neighboring gene microRNA 1915 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr10:21822730-21823443 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 2196 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 2197 Neighboring gene H3K27ac hESC enhancer GRCh37_chr10:21824159-21824871 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr10:21825135-21825648 Neighboring gene ReSE screen-validated silencer GRCh37_chr10:21840002-21840186 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr10:21844418-21845000 Neighboring gene SKI/DACH domain containing 1 Neighboring gene solute carrier family 4 member 8 pseudogene Neighboring gene RNA, U6 small nuclear 306, pseudogene Neighboring gene heterogeneous nuclear ribonucleoprotein R pseudogene 1 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr10:21952461-21953111 Neighboring gene H3K27ac hESC enhancer GRCh37_chr10:21954039-21954538 Neighboring gene Sharpr-MPRA regulatory region 7684 Neighboring gene RNA, U6 small nuclear 1141, pseudogene Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:21999974-22000474 Neighboring gene NANOG hESC enhancer GRCh37_chr10:22015451-22015952 Neighboring gene uncharacterized LOC107984214 Neighboring gene H3K27ac hESC enhancer GRCh37_chr10:22036939-22037438 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr10:22039902-22041101 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr10:22041514-22042174 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr10:22042835-22043494 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr10:22043495-22044154 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr10:22045403-22046279 Neighboring gene NANOG hESC enhancer GRCh37_chr10:22085326-22085864 Neighboring gene DnaJ heat shock protein family (Hsp40) member C1 Neighboring gene RN7SK pseudogene 219 Neighboring gene Sharpr-MPRA regulatory region 11860 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr10:22099351-22100550 Neighboring gene MPRA-validated peak900 silencer Neighboring gene MPRA-validated peak901 silencer Neighboring gene NANOG hESC enhancer GRCh37_chr10:22157554-22158082 Neighboring gene MPRA-validated peak902 silencer Neighboring gene ATAC-STARR-seq lymphoblastoid active region 3123 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:22220654-22221154 Neighboring gene RN7SK pseudogene 37

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • 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

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Related articles in PubMed

  1. A JAK/STAT-mediated inflammatory signaling cascade drives oncogenesis in AF10-rearranged AML. Chen BR, et al. Blood, 2021 Jun 17. PMID 33690798, Free PMC Article
  2. MLLT10 in benign and malignant hematopoiesis. Deutsch JL, et al. Exp Hematol, 2020 Jul. PMID 32569758
  3. Brain tumor risk according to germ-line variation in the MLLT10 locus. Egan KM, et al. Eur J Hum Genet, 2015 Jan. PMID 24755950, Free PMC Article
  4. Cytogenetic and molecular evidence of marrow involvement in extramedullary acute myeloid leukaemia. Lillington DM, et al. Br J Haematol, 2000 Sep. PMID 10997963
  5. Biochemical analyses of the AF10 protein: the extended LAP/PHD-finger mediates oligomerisation. Linder B, et al. J Mol Biol, 2000 Jun 2. PMID 10860745

See all (64) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. AF10 (MLLT10) prevents somatic cell reprogramming through regulation of DOT1L-mediated H3K79 methylation.
    Title: AF10 (MLLT10) prevents somatic cell reprogramming through regulation of DOT1L-mediated H3K79 methylation.
  2. A JAK/STAT-mediated inflammatory signaling cascade drives oncogenesis in AF10-rearranged AML.
    Title: A JAK/STAT-mediated inflammatory signaling cascade drives oncogenesis in AF10-rearranged AML.
  3. The role of the PZP domain of AF10 in acute leukemia driven by AF10 translocations.
    Title: The role of the PZP domain of AF10 in acute leukemia driven by AF10 translocations.
  4. MLLT10 in benign and malignant hematopoiesis.
    Title: MLLT10 in benign and malignant hematopoiesis.
  5. the oligomerization ability of the DOT1L-AF10 complex is essential for MLL1-AF10's leukemogenic function
    Title: A higher-order configuration of the heterodimeric DOT1L-AF10 coiled-coil domains potentiates their leukemogenenic activity.
  6. In vitro, the overexpression of MLLT10 promoted colorectal cancer (CRC) cell migration and invasion, while after MLLT10 was knocked down, the opposite results were observed. In lung metastasis sites, the knockdown of MLLT10 in SW620 cells significantly inhibited Vimentin expression, whereas the E-Cadherin was increased. These results indicate that MLLT10 regulates the metastasis of CRC cells via EMT.
    Title: MLLT10 promotes tumor migration, invasion, and metastasis in human colorectal cancer.
  7. In a retroviral transduction/transplantation mouse model, mice transplanted with MLL/AF10(OM-LZ) cells harboring PTPN11(wt) developed myelomonocytic leukemia. Those transplanted with cells harboring PTPN11(G503A) -induced monocytic leukemia in a shorter latency. Adding PTPN11(G503A) to MLL/AF10 affected cell proliferation, chemo-resistance, differentiation, in vivo BM recruitment/clonal expansion and faster progression.
    Title: Cooperation of MLL/AF10(OM-LZ) with PTPN11 activating mutation induced monocytic leukemia with a shorter latency in a mouse bone marrow transplantation model.
  8. Our results provide evidence for new loci influencing abdominal visceral (BBS9, ADCY8, KCNK9) and subcutaneous (MLLT10/DNAJC1/EBLN1) fat, and confirmed a locus (THNSL2) previously reported to be associated with abdominal fat in women
    Title: Genome-wide association studies suggest sex-specific loci associated with abdominal and visceral fat.
  9. The PZP domain of AF10 senses unmodified H3K27 to regulate DOT1L-mediated methylation of H3K79.
    Title: The PZP Domain of AF10 Senses Unmodified H3K27 to Regulate DOT1L-Mediated Methylation of H3K79.
  10. we report that variants at the MLLT10 locus are unlikely to alter risk of glioma, and they have no prognostic value among patients with high-grade tumors (glioblastoma).
    Title: Brain tumor risk according to germ-line variation in the MLLT10 locus.
Submit: New GeneRIF Correction See all GeneRIFs (25)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

EBI GWAS Catalog

Description
Common variation at 10p12.31 near MLLT10 influences meningioma risk.
EBI GWAS Catalog
GWAS meta-analysis and replication identifies three new susceptibility loci for ovarian cancer.
EBI GWAS Catalog
Large-scale genotyping identifies 41 new loci associated with breast cancer risk.
EBI GWAS Catalog

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Clone Names

  • MGC75086, DKFZp686E10210

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables DNA binding IEA
Inferred from Electronic Annotation
more info
  
enables chromatin binding IDA
Inferred from Direct Assay
more info
 PubMed 
enables histone binding IBA
Inferred from Biological aspect of Ancestor
more info
  
enables histone binding IPI
Inferred from Physical Interaction
more info
 PubMed 
enables metal ion binding IEA
Inferred from Electronic Annotation
more info
  
enables nucleosome binding IBA
Inferred from Biological aspect of Ancestor
more info
  
enables nucleosome binding IDA
Inferred from Direct Assay
more info
 PubMed 
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
Process Evidence Code Pubs
involved_in positive regulation of transcription by RNA polymerase II IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in regulation of transcription by RNA polymerase II IBA
Inferred from Biological aspect of Ancestor
more info
  
Component Evidence Code Pubs
located_in nucleoplasm IDA
Inferred from Direct Assay
more info
  
is_active_in nucleus IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in nucleus IDA
Inferred from Direct Assay
more info
 PubMed 
part_of protein-containing complex IDA
Inferred from Direct Assay
more info
 PubMed 

General protein information

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Preferred Names
protein AF-10
Names
ALL1-fused gene from chromosome 10 protein
myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 10
myeloid/lymphoid or mixed-lineage leukemia; translocated to, 10
type I AF10 protein
type III AF10 protein
type IV AF10 protein

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.

Genomic

  1. NG_027818.2 RefSeqGene

    Range
    5061..214459
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001195626.3 → NP_001182555.1  protein AF-10 isoform c

    See identical proteins and their annotated locations for NP_001182555.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) differs in the 5' UTR and contains multiple differences in the coding region, compared to variant 1. The resulting protein (isoform c) is longer than isoform a.
    Source sequence(s)
    AL161799, AL357372, AL358780, AL359697
    Consensus CDS
    CCDS55708.1
    UniProtKB/Swiss-Prot
    B1ANA8, P55197, Q5JT37, Q5VX90, Q66K63
    Related
    ENSP00000307411.7, ENST00000307729.12
    Conserved Domains (3) summary
    sd00025
    Location:66 → 85
    zf-RanBP2; RanBP2-type Zn finger [structural motif]
    cd15574
    Location:24 → 71
    PHD_AF10_AF17; PHD finger found in protein AF-10 and AF-17
    cd15708
    Location:78 → 206
    ePHD_AF10; Extended PHD finger found in protein AF-10 and similar proteins

  2. NM_001195627.2 → NP_001182556.1  protein AF-10 isoform d

    See identical proteins and their annotated locations for NP_001182556.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (4) has multiple differences in the coding region, compared to variant 1, one of which results in a translational frameshift and early stop codon. The resulting protein (isoform d) has a distinct C-terminus and is shorter than isoform a.
    Source sequence(s)
    BC032532, BC080577, BC094844
    Consensus CDS
    CCDS55706.1
    UniProtKB/Swiss-Prot
    P55197
    Related
    ENSP00000366295.2, ENST00000377091.7
    Conserved Domains (1) summary
    cd15574
    Location:24 → 71
    PHD_AF10_AF17; PHD finger found in protein AF-10 and AF-17

  3. NM_001195628.2 → NP_001182557.1  protein AF-10 isoform e

    See identical proteins and their annotated locations for NP_001182557.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (6) differs in the 5' UTR and has multiple differences in the coding region, compared to variant 1, one of which results in a translational frameshift and early stop codon. The resulting protein (isoform e) has a distinct C-terminus and is shorter than isoform a. Variants 5, 6, and 7 all encode the same isoform (e).
    Source sequence(s)
    BC032532, BC052798, BC094844
    Consensus CDS
    CCDS55707.1
    UniProtKB/Swiss-Prot
    P55197
    Related
    ENSP00000498595.1, ENST00000652497.1
    Conserved Domains (1) summary
    cd15574
    Location:24 → 71
    PHD_AF10_AF17; PHD finger found in protein AF-10 and AF-17

  4. NM_001195630.2 → NP_001182559.1  protein AF-10 isoform e

    See identical proteins and their annotated locations for NP_001182559.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (5) has multiple differences in the coding region, compared to variant 1, one of which results in a translational frameshift and early stop codon. The resulting protein (isoform e) has a distinct C-terminus and is shorter than isoform a. Variants 5, 6, and 7 all encode the same isoform (e).
    Source sequence(s)
    BC032532, BC094844
    Consensus CDS
    CCDS55707.1
    UniProtKB/Swiss-Prot
    P55197
    Related
    ENSP00000366304.3, ENST00000377100.8
    Conserved Domains (1) summary
    cd15574
    Location:24 → 71
    PHD_AF10_AF17; PHD finger found in protein AF-10 and AF-17

  5. NM_001324296.2 → NP_001311225.1  protein AF-10 isoform e

    Status: REVIEWED

    Description
    Transcript Variant: This variant (7), as well as variants 5 and 6, encodes isoform e.
    Source sequence(s)
    AL358780
    Consensus CDS
    CCDS55707.1
    UniProtKB/Swiss-Prot
    P55197
    Conserved Domains (1) summary
    cd15574
    Location:24 → 71
    PHD_AF10_AF17; PHD finger found in protein AF-10 and AF-17

  6. NM_001324297.2 → NP_001311226.1  protein AF-10 isoform f

    Status: REVIEWED

    Source sequence(s)
    AL161799, AL357372, AL358780, AL359697
    UniProtKB/TrEMBL
    Q5HYC6, Q5JT35
    Related
    ENSP00000408281.2, ENST00000438473.6

  7. NM_004641.4 → NP_004632.1  protein AF-10 isoform a

    See identical proteins and their annotated locations for NP_004632.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) encodes isoform a.
    Source sequence(s)
    AB209755, BC032532, BX640774, U13948
    Consensus CDS
    CCDS7135.1
    UniProtKB/Swiss-Prot
    P55197
    UniProtKB/TrEMBL
    Q59EQ6, Q6N002
    Related
    ENSP00000366272.3, ENST00000377072.8
    Conserved Domains (3) summary
    sd00025
    Location:66 → 85
    zf-RanBP2; RanBP2-type Zn finger [structural motif]
    cd15574
    Location:24 → 71
    PHD_AF10_AF17; PHD finger found in protein AF-10 and AF-17
    cd15708
    Location:78 → 206
    ePHD_AF10; Extended PHD finger found in protein AF-10 and similar proteins

RNA

  1. NR_136736.2 RNA Sequence

    Status: REVIEWED

    Source sequence(s)
    AB209755, AL358780, AL359697
    Related
    ENST00000651298.1

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000010.11 Reference GRCh38.p14 Primary Assembly

    Range
    21533756..21743630
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060934.1 Alternate T2T-CHM13v2.0

    Range
    21552866..21762703
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

  1. NM_001009569.1: Suppressed sequence

    Description
    NM_001009569.1: This RefSeq was permanently suppressed because currently there is insufficient support for the transcript and the protein.
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
P55197.2 GenPept UniProtKB/Swiss-Prot:P55197

Gene LinkOut

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