Mael maelstrom spermatogenic transposon silencer [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Maelprovided by MGI
Official Full Name: maelstrom spermatogenic transposon silencerprovided by MGI
Primary source: MGI:MGI:2138453
See related: Ensembl:ENSMUSG00000040629 AllianceGenome:MGI:2138453
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: 4933405K18Rik
Summary: Predicted to enable sequence-specific DNA binding activity. Involved in DNA methylation involved in gamete generation; gene silencing by RNA; and piRNA metabolic process. Acts upstream of or within several processes, including intrinsic apoptotic signaling pathway in response to DNA damage; male gamete generation; and negative regulation of macromolecule metabolic process. Located in several cellular components, including chromosome; cytoplasmic ribonucleoprotein granule; and perinuclear region of cytoplasm. Is expressed in brain; early conceptus; and genitourinary system. Orthologous to human MAEL (maelstrom spermatogenic transposon silencer). [provided by Alliance of Genome Resources, Apr 2022]
Expression: Restricted expression toward testis adult (RPKM 282.2) See more
Orthologs: human all
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Genomic context

Location:: 1 H2.3; 1 73.56 cM

Exon count:: 12

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	1	NC_000067.7 (166028954..166066313, complement)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	1	NC_000067.6 (166201385..166238744, complement)

Chromosome 1 - NC_000067.7 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?

MAEL HMG-box domain may contribute to MAEL function in selective processing of retrotransposon RNA into piRNAs.
Title: A unique HMG-box domain of mouse Maelstrom binds structured RNA but not double stranded DNA.
an important role for Mael in early oogenesis and during germ-cell differentiation from embryonic stem cells
Title: Role of Mael in early oogenesis and during germ-cell differentiation from embryonic stem cells in mice in vitro.
Authors provide evidence of functional significance of these complexes in Mael129 knockout mice that exhibit spermiogenic arrest with acrosome and flagellum malformation.
Title: Reduced pachytene piRNAs and translation underlie spermiogenic arrest in Maelstrom mutant mice.
This study demonstrates that MAEL, a nuage component, is indispensable for the silencing of transposable elements (TEs) and identifies the initiation of meiosis as an important step in (TE) control in the male germline.
Title: Mouse maelstrom, a component of nuage, is essential for spermatogenesis and transposon repression in meiosis.

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Variation

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Alleles

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

Endonuclease-mediated (2)
Targeted (1) 1 citation

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

AU019877 (e-PCR)
- UniSTS:178504

D1Mit401 (e-PCR), detects polymorphism
- UniSTS:128763

Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables DNA binding	IEA Inferred from Electronic Annotation more info
enables RNA binding	IEA Inferred from Electronic Annotation more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables sequence-specific DNA binding	IBA Inferred from Biological aspect of Ancestor more info

Process	Evidence Code	Pubs
acts_upstream_of_or_within DNA damage response	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of apoptotic process	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within cell differentiation	IEA Inferred from Electronic Annotation more info
acts_upstream_of_or_within cell morphogenesis	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of ectopic germ cell programmed cell death	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within fertilization	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of gene expression	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within homologous chromosome pairing at meiosis	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within intrinsic apoptotic signaling pathway in response to DNA damage	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in male meiotic nuclear division	IBA Inferred from Biological aspect of Ancestor more info
acts_upstream_of_or_within male meiotic nuclear division	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within meiotic cell cycle	IEA Inferred from Electronic Annotation more info
acts_upstream_of_or_within multicellular organism development	IEA Inferred from Electronic Annotation more info
involved_in negative regulation of DNA-templated transcription	IBA Inferred from Biological aspect of Ancestor more info
acts_upstream_of_or_within negative regulation of apoptotic process	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within negative regulation of developmental process	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within negative regulation of gene expression	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within negative regulation of reproductive process	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within negative regulation of transcription by RNA polymerase II	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in piRNA processing	IBA Inferred from Biological aspect of Ancestor more info
involved_in piRNA processing	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in regulation of miRNA-mediated gene silencing	IEA Inferred from Electronic Annotation more info
acts_upstream_of_or_within regulation of organ growth	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in regulatory ncRNA-mediated gene silencing	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in siRNA-mediated retrotransposon silencing by heterochromatin formation	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in spermatogenesis	IBA Inferred from Biological aspect of Ancestor more info
acts_upstream_of_or_within spermatogenesis	IMP Inferred from Mutant Phenotype more info	PubMed

Component	Evidence Code	Pubs
is_active_in P granule	IBA Inferred from Biological aspect of Ancestor more info
located_in P granule	IDA Inferred from Direct Assay more info	PubMed
NOT located_in XY body	IDA Inferred from Direct Assay more info	PubMed
located_in XY body	IDA Inferred from Direct Assay more info	PubMed
located_in autosome	IDA Inferred from Direct Assay more info	PubMed
part_of chromatin	IDA Inferred from Direct Assay more info	PubMed
located_in chromatoid body	IDA Inferred from Direct Assay more info	PubMed
located_in cytoplasm	IDA Inferred from Direct Assay more info	PubMed
located_in cytosol	TAS Traceable Author Statement more info
located_in male germ cell nucleus	IDA Inferred from Direct Assay more info	PubMed
located_in nucleoplasm	TAS Traceable Author Statement more info
is_active_in nucleus	IBA Inferred from Biological aspect of Ancestor more info
located_in perinuclear region of cytoplasm	IDA Inferred from Direct Assay more info	PubMed
located_in piP-body	IDA Inferred from Direct Assay more info	PubMed

General protein information

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Preferred Names: protein maelstrom homolog

Names: maelstrom 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_175296.4 → NP_780505.1 protein maelstrom homolog

See identical proteins and their annotated locations for NP_780505.1

Status: VALIDATED

Source sequence(s)

AC034122

Consensus CDS

CCDS15448.1

UniProtKB/Swiss-Prot

Q8BVN9

UniProtKB/TrEMBL

A0A0A6YWQ9

Related

ENSMUSP00000045828.4, ENSMUST00000038782.4

Conserved Domains (2) summary

pfam09011
Location:5 → 72

HMG_box_2; HMG-box domain

pfam13017
Location:130 → 326

Maelstrom; piRNA pathway germ-plasm component