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

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 regulation of transcription by RNA polymerase II. Predicted to act upstream of or within several processes, including renal potassium excretion; renal sodium excretion; and renal water absorption. Predicted to be active in nucleus. [provided by Alliance of Genome Resources, Dec 2024]
Expression: Ubiquitous expression in spleen (RPKM 30.7), ovary (RPKM 26.5) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 17q12

Exon count:: 20

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	17	NC_000017.11 (38705273..38729795)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	17	NC_060941.1 (39568358..39592880)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	17	NC_000017.10 (36861526..36886048)

Chromosome 17 - NC_000017.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

MLLT6 maintains PD-L1 expression and mediates tumor immune resistance.
Title: MLLT6 maintains PD-L1 expression and mediates tumor immune resistance.
AF17 competes with AF9 to bind Dot1a, decreases Dot1a nuclear expression by possibly facilitating its nuclear export, and relieves Dot1a.AF9-mediated repression of alpha-ENaC and other target genes.
Title: AF17 competes with AF9 for binding to Dot1a to up-regulate transcription of epithelial Na+ channel alpha.
In the Acute Myeloid Leukemia patients, detected MLL rearrangements consisting of MLL/AF6, MLL/AF9, MLL/AF17 , MLL/ELL and MLL partial tandem duplication. MLL rearrangement include chromosome translocation and partial tandem duplication.
Title: [Application of reverse transcription-multiplex nested PCR to detect MLL rearrangement in AML-M4/M5].

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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

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

RH91164 (e-PCR)
- UniSTS:84360

RH41914 (e-PCR)
- UniSTS:9931

RH45610 (e-PCR)
- UniSTS:22769

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
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 chromatin organization	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
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

General protein information

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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)

NM_005937.4 → NP_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, Q59F28, Q96IU3, Q9H5F6, Q9UF49

Related

ENSP00000479910.1, ENST00000621332.5

Conserved Domains (2) summary

cd15574
Location:7 → 54

PHD_AF10_AF17; PHD finger found in protein AF-10 and AF-17

cd15709
Location:61 → 185

ePHD_AF17; Extended PHD finger found in protein AF-17 and similar proteins