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MLLT6 MLLT6, PHD finger containing [ Homo sapiens (human) ]

Gene ID: 4302, updated on 4-Dec-2022

Summary

Official Symbol
MLLT6provided by HGNC
Official Full Name
MLLT6, PHD finger containingprovided by HGNC
Primary source
HGNC:HGNC:7138
See related
Ensembl:ENSG00000275023 MIM:600328; AllianceGenome:HGNC:7138
Gene type
protein coding
RefSeq status
VALIDATED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
AF17
Summary
Enables histone binding activity and nucleosome binding activity. Predicted to be involved in positive regulation of transcription by RNA polymerase II. Predicted to act upstream of or within several processes, including negative regulation of histone H3-K79 methylation; renal potassium excretion; and renal sodium excretion. Predicted to be active in nucleus. [provided by Alliance of Genome Resources, Apr 2022]
Expression
Ubiquitous expression in spleen (RPKM 30.7), ovary (RPKM 26.5) and 25 other tissues See more
Orthologs
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Genomic context

See MLLT6 in Genome Data Viewer
Location:
17q12
Exon count:
20
Annotation release Status Assembly Chr Location
110 current GRCh38.p14 (GCF_000001405.40) 17 NC_000017.11 (38705273..38729795)
110 current T2T-CHM13v2.0 (GCF_009914755.1) 17 NC_060941.1 (39568358..39592880)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 17 NC_000017.10 (36861526..36886048)

Chromosome 17 - NC_000017.11Genomic Context describing neighboring genes Neighboring gene Sharpr-MPRA regulatory region 4536 Neighboring gene uncharacterized LOC105371763 Neighboring gene microRNA 4734 Neighboring gene uncharacterized LOC124903993 Neighboring gene uncharacterized LOC105371762 Neighboring gene microRNA 4726 Neighboring gene control region 19 heart enhancer Neighboring gene RNA, 5S ribosomal pseudogene 440 Neighboring gene CDGSH iron sulfur domain 3 Neighboring gene polycomb group ring finger 2 Neighboring gene uncharacterized LOC100287808

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

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • FLJ23480

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables histone binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
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
PubMed 
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 histone H3-K79 methylation IEA
Inferred from Electronic Annotation
more info
 
involved_in negative regulation of histone H3-K79 methylation IEA
Inferred from Electronic Annotation
more info
 
involved_in negative regulation of urine volume IEA
Inferred from Electronic Annotation
more info
 
involved_in positive regulation of sodium ion transport IEA
Inferred from Electronic Annotation
more info
 
involved_in positive regulation of transcription by RNA polymerase II IEA
Inferred from Electronic Annotation
more info
 
involved_in regulation of DNA-templated transcription TAS
Traceable Author Statement
more info
PubMed 
involved_in regulation of transcription by RNA polymerase II IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
involved_in renal potassium excretion IEA
Inferred from Electronic Annotation
more info
 
involved_in renal sodium excretion IEA
Inferred from Electronic Annotation
more info
 
involved_in renal water absorption IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
is_active_in nucleus IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 

General protein information

Preferred Names
protein AF-17
Names
ALL1-fused gene from chromosome 17 protein
KMT2A-MLLT6 fusion protein
KMT2A/MLLT6 fusion
MLLT6, PHD finger domain containing
MLLT6/KMT2A fusion
Myeloid/lymphoid or mixed-lineage leukemia, translocated to, 6
myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog); translocated to, 6
myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 6
myeloid/lymphoid or mixed-lineage leukemia; translocated to, 6
trithorax homolog

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_005937.4NP_005928.2  protein AF-17

    See identical proteins and their annotated locations for NP_005928.2

    Status: VALIDATED

    Source sequence(s)
    AB209633, AC006449, KF456275
    Consensus CDS
    CCDS11327.1
    UniProtKB/Swiss-Prot
    P55198, Q9UF49
    UniProtKB/TrEMBL
    A0A087WW39
    Related
    ENSP00000479910.1, ENST00000621332.5
    Conserved Domains (2) summary
    cd15574
    Location:754
    PHD_AF10_AF17; PHD finger found in protein AF-10 and AF-17
    cd15709
    Location:61185
    ePHD_AF17; Extended PHD finger found in protein AF-17 and similar proteins

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 110 details...Open this link in a new tab

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000017.11 Reference GRCh38.p14 Primary Assembly

    Range
    38705273..38729795
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Reference GRCh38.p14 ALT_REF_LOCI_1

Genomic

  1. NT_187614.1 Reference GRCh38.p14 ALT_REF_LOCI_1

    Range
    2740592..2765114
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060941.1 Alternate T2T-CHM13v2.0

    Range
    39568358..39592880
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)