Mllt6 myeloid/lymphoid or mixed-lineage leukemia; translocated to, 6 [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Mllt6provided by MGI
Official Full Name: myeloid/lymphoid or mixed-lineage leukemia; translocated to, 6provided by MGI
Primary source: MGI:MGI:1935145
See related: Ensembl:ENSMUSG00000038437 AllianceGenome:MGI:1935145
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Mus musculus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as: Af17
Summary: Predicted to enable histone binding activity and nucleosome binding activity. Acts upstream of or within several processes, including renal potassium excretion; renal sodium excretion; and renal water absorption. Predicted to be active in nucleus. Is expressed in several structures, including early conceptus; forelimb bud; genitourinary system; nervous system; and sensory organ. Orthologous to human MLLT6 (MLLT6, PHD finger containing). [provided by Alliance of Genome Resources, Dec 2024]
Expression: Ubiquitous expression in spleen adult (RPKM 32.0), lung adult (RPKM 28.2) and 25 other tissues See more
Orthologs: human all
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Genomic context

Location:: 11 D; 11 61.05 cM

Exon count:: 21

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	11	NC_000077.7 (97553948..97576287)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	11	NC_000077.6 (97663122..97685461)

Chromosome 11 - NC_000077.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: Mouse ENCODE transcriptome data
Description: RNA profiling data sets generated by the Mouse ENCODE project.
BioProject: PRJNA66167
Publication: PMID 25409824
Analysis date: n/a

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

AF17 promotes Dot1a nuclear export and upregulates basal, but not aldosterone-stimulated ENaC expression, leading to an increase in ENaC-mediated Na(+) transport in renal collecting duct cells
Title: AF17 facilitates Dot1a nuclear export and upregulates ENaC-mediated Na+ transport in renal collecting duct cells.
Af17 deficiency increases sodium excretion and decreases blood pressure. Af17 ss a potential locus for the maintenance of sodium and blood pressure homeostasis.
Title: Af17 deficiency increases sodium excretion and decreases blood pressure.
Af17 may be dispensable for normal embryogenesis, hematopoiesis, and animal survival.
Title: Widely expressed Af17 is likely not required for embryogenesis, hematopoiesis, and animal survival.
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.
located within a 185-kb contig surrounding a transgene on chromosome 11
Title: Mutagenic transgene insertion into a region of high gene density and multiple linkage disruptions on mouse chromosome 11.

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Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics (MGI)

Endonuclease-mediated (2)
Gene trapped (1)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

D10Mit157.2 (e-PCR), detects polymorphism
- UniSTS:126061

AI315037 (e-PCR)
- UniSTS:160151

Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables histone binding	IBA Inferred from Biological aspect of Ancestor more info
enables histone binding	ISO Inferred from Sequence Orthology more info
enables nucleosome binding	IBA Inferred from Biological aspect of Ancestor more info
enables nucleosome binding	ISO Inferred from Sequence Orthology more info

Process	Evidence Code	Pubs
acts_upstream_of_or_within chromatin organization	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within negative regulation of urine volume	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within positive regulation of sodium ion transport	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within positive regulation of transcription by RNA polymerase II	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in regulation of transcription by RNA polymerase II	IBA Inferred from Biological aspect of Ancestor more info
acts_upstream_of_or_within renal potassium excretion	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within renal sodium excretion	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within renal system process	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within renal water absorption	IMP Inferred from Mutant Phenotype more info	PubMed

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: myeloid/lymphoid or mixed lineage-leukemia translocation to 6 homolog; myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 6

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_139311.3 → NP_647472.2 protein AF-17

See identical proteins and their annotated locations for NP_647472.2

Status: VALIDATED

Source sequence(s)

AL596123

Consensus CDS

CCDS25323.1

UniProtKB/TrEMBL

B1AR09, Q8VHB4

Related

ENSMUSP00000045445.6, ENSMUST00000044730.12

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

RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

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

Reference GRCm39 C57BL/6J

Genomic

NC_000077.7 Reference GRCm39 C57BL/6J

Range

97553948..97576287

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_006533332.3 → XP_006533395.1 protein AF-17 isoform X1

UniProtKB/TrEMBL

B1AR10, Q8VHB4

Related

ENSMUSP00000103212.3, ENSMUST00000107586.3

Conserved Domains (4) 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

pfam10500
Location:229 → 329

SR-25; Nuclear RNA-splicing-associated protein

cl23880
Location:737 → 763

HALZ; Homeobox associated leucine zipper
XM_006533335.3 → XP_006533398.1 protein AF-17 isoform X3

Conserved Domains (4) 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

pfam10500
Location:229 → 329

SR-25; Nuclear RNA-splicing-associated protein

cl23880
Location:737 → 763

HALZ; Homeobox associated leucine zipper
XM_006533333.3 → XP_006533396.1 protein AF-17 isoform X2

UniProtKB/TrEMBL

Q8VHB4

Conserved Domains (4) summary

cd15574
Location:7 → 54

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

cd15709
Location:61 → 184

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

pfam10500
Location:228 → 328

SR-25; Nuclear RNA-splicing-associated protein

cl23880
Location:736 → 762

HALZ; Homeobox associated leucine zipper
XM_036156705.1 → XP_036012598.1 protein AF-17 isoform X4

Conserved Domains (3) 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

cd20901
Location:719 → 773

CC_AF10; coiled coil domain of ALL1-Fused gene from chromosome 10 protein (AF10) and similar proteins