Format

Send to:

Choose Destination

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

Gene ID: 8028, updated on 26-Apr-2019

Summary

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
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

Genomic context

See MLLT10 in Genome Data Viewer
Location:
10p12.31
Exon count:
39
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 10 NC_000010.11 (21524616..21743630)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 10 NC_000010.10 (21813540..22032559)

Chromosome 10 - NC_000010.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105376445 Neighboring gene MIR1915 host gene Neighboring gene microRNA 1915 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 RNA, U6 small nuclear 1141, pseudogene Neighboring gene uncharacterized LOC107984214 Neighboring gene Sharpr-MPRA regulatory region 12954 Neighboring gene DnaJ heat shock protein family (Hsp40) member C1 Neighboring gene RN7SK pseudogene 219

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
Acute myeloid leukemia Compare labs

NHGRI GWAS Catalog

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

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • MGC75086, DKFZp686E10210

Gene Ontology Provided by GOA

Function Evidence Code Pubs
DNA binding IEA
Inferred from Electronic Annotation
more info
 
DNA-binding transcription factor activity NAS
Non-traceable Author Statement
more info
PubMed 
chromatin binding IDA
Inferred from Direct Assay
more info
PubMed 
histone binding IPI
Inferred from Physical Interaction
more info
PubMed 
metal ion binding IEA
Inferred from Electronic Annotation
more info
 
nucleosome binding IDA
Inferred from Direct Assay
more info
PubMed 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
positive regulation of transcription by RNA polymerase II IDA
Inferred from Direct Assay
more info
PubMed 
Component Evidence Code Pubs
cytosol IDA
Inferred from Direct Assay
more info
 
nucleoplasm IDA
Inferred from Direct Assay
more info
 
nucleus IDA
Inferred from Direct Assay
more info
PubMed 
protein-containing complex IDA
Inferred from Direct Assay
more info
PubMed 

General protein information

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)

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
    5001..214459
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001195626.2NP_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, AL358780, AL359697, BC129946
    Consensus CDS
    CCDS55708.1
    UniProtKB/Swiss-Prot
    P55197
    UniProtKB/TrEMBL
    Q59EQ6, Q6N002
    Related
    ENSP00000366258.4, ENST00000377059.7
    Conserved Domains (3) summary
    sd00025
    Location:6685
    zf-RanBP2; RanBP2-type Zn finger [structural motif]
    cd15574
    Location:2471
    PHD_AF10_AF17; PHD finger found in protein AF-10 and AF-17
    cd15708
    Location:78206
    ePHD_AF10; Extended PHD finger found in protein AF-10 and similar proteins
  2. NM_001195627.1NP_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:2471
    PHD_AF10_AF17; PHD finger found in protein AF-10 and AF-17
  3. NM_001195628.1NP_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:2471
    PHD_AF10_AF17; PHD finger found in protein AF-10 and AF-17
  4. NM_001195630.1NP_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:2471
    PHD_AF10_AF17; PHD finger found in protein AF-10 and AF-17
  5. NM_001324296.1NP_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:2471
    PHD_AF10_AF17; PHD finger found in protein AF-10 and AF-17
  6. NM_001324297.1NP_001311226.1  protein AF-10 isoform f

    Status: REVIEWED

    Source sequence(s)
    AL161799, AL357372, AL358780, AL359697
  7. NM_004641.3NP_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:6685
    zf-RanBP2; RanBP2-type Zn finger [structural motif]
    cd15574
    Location:2471
    PHD_AF10_AF17; PHD finger found in protein AF-10 and AF-17
    cd15708
    Location:78206
    ePHD_AF10; Extended PHD finger found in protein AF-10 and similar proteins

RNA

  1. NR_136736.1 RNA Sequence

    Status: REVIEWED

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

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_000010.11 Reference GRCh38.p12 Primary Assembly

    Range
    21524616..21743630
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_024448182.1XP_024303950.1  protein AF-10 isoform X1

    Conserved Domains (3) summary
    sd00025
    Location:6685
    zf-RanBP2; RanBP2-type Zn finger [structural motif]
    cd15574
    Location:2471
    PHD_AF10_AF17; PHD finger found in protein AF-10 and AF-17
    cd15708
    Location:78206
    ePHD_AF10; Extended PHD finger found in protein AF-10 and similar proteins
  2. XM_024448200.1XP_024303968.1  protein AF-10 isoform X10

    Conserved Domains (1) summary
    cl22851
    Location:187
    PHD_SF; PHD finger superfamily
  3. XM_024448198.1XP_024303966.1  protein AF-10 isoform X10

    Conserved Domains (1) summary
    cl22851
    Location:187
    PHD_SF; PHD finger superfamily
  4. XM_024448181.1XP_024303949.1  protein AF-10 isoform X1

    Conserved Domains (3) summary
    sd00025
    Location:6685
    zf-RanBP2; RanBP2-type Zn finger [structural motif]
    cd15574
    Location:2471
    PHD_AF10_AF17; PHD finger found in protein AF-10 and AF-17
    cd15708
    Location:78206
    ePHD_AF10; Extended PHD finger found in protein AF-10 and similar proteins
  5. XM_024448194.1XP_024303962.1  protein AF-10 isoform X10

    Conserved Domains (1) summary
    cl22851
    Location:187
    PHD_SF; PHD finger superfamily
  6. XM_024448197.1XP_024303965.1  protein AF-10 isoform X10

    Conserved Domains (1) summary
    cl22851
    Location:187
    PHD_SF; PHD finger superfamily
  7. XM_024448195.1XP_024303963.1  protein AF-10 isoform X10

    Conserved Domains (1) summary
    cl22851
    Location:187
    PHD_SF; PHD finger superfamily
  8. XM_024448199.1XP_024303967.1  protein AF-10 isoform X10

    Conserved Domains (1) summary
    cl22851
    Location:187
    PHD_SF; PHD finger superfamily
  9. XM_024448180.1XP_024303948.1  protein AF-10 isoform X1

    Conserved Domains (3) summary
    sd00025
    Location:6685
    zf-RanBP2; RanBP2-type Zn finger [structural motif]
    cd15574
    Location:2471
    PHD_AF10_AF17; PHD finger found in protein AF-10 and AF-17
    cd15708
    Location:78206
    ePHD_AF10; Extended PHD finger found in protein AF-10 and similar proteins
  10. XM_024448188.1XP_024303956.1  protein AF-10 isoform X5

    Conserved Domains (3) summary
    sd00025
    Location:6685
    zf-RanBP2; RanBP2-type Zn finger [structural motif]
    cd15574
    Location:2471
    PHD_AF10_AF17; PHD finger found in protein AF-10 and AF-17
    cd15708
    Location:78203
    ePHD_AF10; Extended PHD finger found in protein AF-10 and similar proteins
  11. XM_024448179.1XP_024303947.1  protein AF-10 isoform X1

    Conserved Domains (3) summary
    sd00025
    Location:6685
    zf-RanBP2; RanBP2-type Zn finger [structural motif]
    cd15574
    Location:2471
    PHD_AF10_AF17; PHD finger found in protein AF-10 and AF-17
    cd15708
    Location:78206
    ePHD_AF10; Extended PHD finger found in protein AF-10 and similar proteins
  12. XM_024448191.1XP_024303959.1  protein AF-10 isoform X8

    Conserved Domains (3) summary
    sd00025
    Location:6685
    zf-RanBP2; RanBP2-type Zn finger [structural motif]
    cd15574
    Location:2471
    PHD_AF10_AF17; PHD finger found in protein AF-10 and AF-17
    cd15708
    Location:78206
    ePHD_AF10; Extended PHD finger found in protein AF-10 and similar proteins
  13. XM_024448189.1XP_024303957.1  protein AF-10 isoform X6

    Related
    ENSP00000307411.7, ENST00000307729.12
    Conserved Domains (3) summary
    sd00025
    Location:6685
    zf-RanBP2; RanBP2-type Zn finger [structural motif]
    cd15574
    Location:2471
    PHD_AF10_AF17; PHD finger found in protein AF-10 and AF-17
    cd15708
    Location:78206
    ePHD_AF10; Extended PHD finger found in protein AF-10 and similar proteins
  14. XM_024448204.1XP_024303972.1  protein AF-10 isoform X14

  15. XM_024448205.1XP_024303973.1  protein AF-10 isoform X15

  16. XM_024448184.1XP_024303952.1  protein AF-10 isoform X3

    Conserved Domains (3) summary
    sd00025
    Location:6685
    zf-RanBP2; RanBP2-type Zn finger [structural motif]
    cd15574
    Location:2471
    PHD_AF10_AF17; PHD finger found in protein AF-10 and AF-17
    cd15708
    Location:78206
    ePHD_AF10; Extended PHD finger found in protein AF-10 and similar proteins
  17. XM_024448183.1XP_024303951.1  protein AF-10 isoform X2

    Conserved Domains (3) summary
    sd00025
    Location:6685
    zf-RanBP2; RanBP2-type Zn finger [structural motif]
    cd15574
    Location:2471
    PHD_AF10_AF17; PHD finger found in protein AF-10 and AF-17
    cd15708
    Location:78206
    ePHD_AF10; Extended PHD finger found in protein AF-10 and similar proteins
  18. XM_024448186.1XP_024303954.1  protein AF-10 isoform X4

    Conserved Domains (3) summary
    sd00025
    Location:6685
    zf-RanBP2; RanBP2-type Zn finger [structural motif]
    cd15574
    Location:2471
    PHD_AF10_AF17; PHD finger found in protein AF-10 and AF-17
    cd15708
    Location:78206
    ePHD_AF10; Extended PHD finger found in protein AF-10 and similar proteins
  19. XM_024448190.1XP_024303958.1  protein AF-10 isoform X7

    Conserved Domains (3) summary
    sd00025
    Location:6685
    zf-RanBP2; RanBP2-type Zn finger [structural motif]
    cd15574
    Location:2471
    PHD_AF10_AF17; PHD finger found in protein AF-10 and AF-17
    cd15708
    Location:78206
    ePHD_AF10; Extended PHD finger found in protein AF-10 and similar proteins
  20. XM_024448187.1XP_024303955.1  protein AF-10 isoform X5

    Conserved Domains (3) summary
    sd00025
    Location:6685
    zf-RanBP2; RanBP2-type Zn finger [structural motif]
    cd15574
    Location:2471
    PHD_AF10_AF17; PHD finger found in protein AF-10 and AF-17
    cd15708
    Location:78203
    ePHD_AF10; Extended PHD finger found in protein AF-10 and similar proteins
  21. XM_024448206.1XP_024303974.1  protein AF-10 isoform X16

    Conserved Domains (2) summary
    cd15574
    Location:2471
    PHD_AF10_AF17; PHD finger found in protein AF-10 and AF-17
    cd15708
    Location:78206
    ePHD_AF10; Extended PHD finger found in protein AF-10 and similar proteins
  22. XM_024448192.1XP_024303960.1  protein AF-10 isoform X9

    Conserved Domains (1) summary
    cd15708
    Location:3128
    ePHD_AF10; Extended PHD finger found in protein AF-10 and similar proteins
  23. XM_024448202.1XP_024303970.1  protein AF-10 isoform X12

    Conserved Domains (1) summary
    cl22851
    Location:187
    PHD_SF; PHD finger superfamily
  24. XM_024448193.1XP_024303961.1  protein AF-10 isoform X9

    Conserved Domains (1) summary
    cd15708
    Location:3128
    ePHD_AF10; Extended PHD finger found in protein AF-10 and similar proteins
  25. XM_024448201.1XP_024303969.1  protein AF-10 isoform X11

  26. XM_024448203.1XP_024303971.1  protein AF-10 isoform X13

    Related
    ENSP00000408281.2, ENST00000438473.6

RNA

  1. XR_002957016.1 RNA Sequence

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.
Support Center