Atmin ATM interactor [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Atminprovided by MGI
Official Full Name: ATM interactorprovided by MGI
Primary source: MGI:MGI:2682328
See related: Ensembl:ENSMUSG00000047388 AllianceGenome:MGI:2682328
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: gpg6; Asciz; mKIAA0431
Summary: Enables DNA-binding transcription activator activity, RNA polymerase II-specific and transcription cis-regulatory region binding activity. Involved in positive regulation of transcription by RNA polymerase II. Acts upstream of or within motile cilium assembly; positive regulation of gene expression; and positive regulation of non-motile cilium assembly. Predicted to be located in nuclear body. Predicted to be active in nucleus. Is expressed in several structures, including central nervous system; heart; liver; lung; and retina. Orthologous to human ATMIN (ATM interactor). [provided by Alliance of Genome Resources, Apr 2022]
Expression: Ubiquitous expression in testis adult (RPKM 16.7), cerebellum adult (RPKM 10.6) and 28 other tissues See more
Orthologs: human all
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Genomic context

Location:: 8 E1; 8 63.37 cM

Exon count:: 4

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	8	NC_000074.7 (117670132..117687184)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	8	NC_000074.6 (116943383..116960445)

Chromosome 8 - NC_000074.7 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?

Heterozygous Atmin deletion significantly increased tumor cell proliferation, tumor burden, and tumor grade in the LSL-KRasG12D; Trp53 F/F (KP) mouse model of lung adenocarcinoma, identifying ATMIN as a haploinsufficient tumor suppressor. ATMIN-deficient KP lung tumor cells showed increased survival in response to replication stress and consequently accumulated DNA damage.
Title: ATMIN Is a Tumor Suppressor Gene in Lung Adenocarcinoma.
This work indicates a novel role for non-canonical Wnt/planar cell polarity signalling in Autosomal Recessive Polycystic Kidney Disease and suggests ATMIN as a modulator of PKHD1.
Title: Atmin modulates Pkhd1 expression and may mediate Autosomal Recessive Polycystic Kidney Disease (ARPKD) through altered non-canonical Wnt/Planar Cell Polarity (PCP) signalling.
ASCIZ/ATMIN is dispensable for ATM activation, and contradict the previously reported dependence of ATM on ASCIZ/ATMIN.
Title: ASCIZ/ATMIN is dispensable for ATM signaling in response to replication stress.
oncogenic MYC expression, which is synthetic lethal with Dynll1 deletion in B-2 cells, did not further reduce B-1a cell numbers in Dynll1-defcient mice. we found that the ASCIZ-DYNLL1 axis was also required for the early-juvenile development of aggressive MYC-driven and p53-deficient B cell lymphomas.
Title: Dynein light chain regulates adaptive and innate B cell development by distinctive genetic mechanisms.
ATMIN, therefore, has multiple roles in different cell types, and its absence results in perturbed hematopoiesis, especially during stress conditions and aging.
Title: Perturbed hematopoiesis in mice lacking ATMIN.
ASCIZ and its target DYNLL1 are essential for the development and expansion of MYC-driven B cell lymphoma.
Title: The Transcription Factor ASCIZ and Its Target DYNLL1 Are Essential for the Development and Expansion of MYC-Driven B Cell Lymphoma.
These results reveal a new requirement for ATMIN-dependent ATM signaling in TP53-deficient glioblastoma multiforme, indicating a pro-tumorigenic role for ATM in the context of these tumors.
Title: Inactivation of the ATMIN/ATM pathway protects against glioblastoma formation.
findings reveal a novel model for an intestinal bowel disease phenotype that occurs upon combined loss of the DNA repair cofactors ATMIN and NBS1
Title: DNA Repair Cofactors ATMIN and NBS1 Are Required to Suppress T Cell Activation.
Results show that Atmin is critical for normal kidney development through Wnt signaling pathway modifications.
Title: Atmin mediates kidney morphogenesis by modulating Wnt signaling.
ATMIN has a role in lung morphogenesis and ciliogenesis through transcriptional regulation
Title: ATMIN is a transcriptional regulator of both lung morphogenesis and ciliogenesis.

Submit: New GeneRIF Correction See all GeneRIFs (22)

Variation

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Alleles

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

Targeted (4) 1 citation
Chemically induced (ENU) (2) 1 citation
Endonuclease-mediated (1)

General gene information

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Markers

NoName (e-PCR)
- UniSTS:236013

NoName (e-PCR)
- UniSTS:236014

Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables DNA-binding transcription activator activity, RNA polymerase II-specific	IDA Inferred from Direct Assay more info	PubMed
enables DNA-binding transcription factor activity, RNA polymerase II-specific	IBA Inferred from Biological aspect of Ancestor more info
enables dynein complex binding	ISO Inferred from Sequence Orthology more info
enables metal ion binding	IEA Inferred from Electronic Annotation more info
enables transcription cis-regulatory region binding	IBA Inferred from Biological aspect of Ancestor more info
enables transcription cis-regulatory region binding	IDA Inferred from Direct Assay more info	PubMed

Process	Evidence Code	Pubs
acts_upstream_of_or_within DNA damage response	IEA Inferred from Electronic Annotation more info
acts_upstream_of_or_within motile cilium assembly	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of DNA-templated transcription	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of DNA-templated transcription	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within positive regulation of gene expression	IDA Inferred from Direct Assay more info	PubMed
acts_upstream_of_or_within positive regulation of non-motile cilium assembly	IGI Inferred from Genetic Interaction more info	PubMed
acts_upstream_of_or_within positive regulation of non-motile cilium assembly	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of transcription by RNA polymerase II	IDA Inferred from Direct Assay more info	PubMed
involved_in regulation of transcription by RNA polymerase II	IBA Inferred from Biological aspect of Ancestor more info

Component	Evidence Code	Pubs
located_in nuclear body	ISO Inferred from Sequence Orthology more info
is_active_in nucleus	IBA Inferred from Biological aspect of Ancestor more info

General protein information

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Preferred Names: ATM interactor

Names: ASCIZ; ATM/ATR-substrate CHEK2-interacting zinc finger protein; ATM/ATR-substrate CHK2-interacting zinc finger protein

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.