Asz1 ankyrin repeat, SAM and basic leucine zipper domain containing 1 [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Asz1provided by MGI
Official Full Name: ankyrin repeat, SAM and basic leucine zipper domain containing 1provided by MGI
Primary source: MGI:MGI:1921318
See related: Ensembl:ENSMUSG00000010796 AllianceGenome:MGI:1921318
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: Gasz; ORF3; 4933400N19Rik
Summary: Involved in gamete generation and piRNA metabolic process. Located in pi-body. Is expressed in genitourinary system and limb mesenchyme. Orthologous to human ASZ1 (ankyrin repeat, SAM and basic leucine zipper domain containing 1). [provided by Alliance of Genome Resources, Apr 2022]
Expression: Biased expression in bladder adult (RPKM 3.4), testis adult (RPKM 3.0) and 1 other tissue See more
Orthologs: human all
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Genomic context

Location:: 6 A2; 6 8.09 cM

Exon count:: 15

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	6	NC_000072.7 (18050963..18109060, complement)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	6	NC_000072.6 (18050964..18109061, complement)

Chromosome 6 - NC_000072.7 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?

Disruption of piRNA machinery by deletion of ASZ1/GASZ results in the expression of aberrant chimeric transcripts in gonocytes.
Title: Disruption of piRNA machinery by deletion of ASZ1/GASZ results in the expression of aberrant chimeric transcripts in gonocytes.
GASZ interacts with itself at the outer membrane of mitochondria and promotes mitofusion in a mitofusin/MFN-dependent manner. GASZ contains a functional mitochondrial targeting signal .
Title: GASZ and mitofusin-mediated mitochondrial functions are crucial for spermatogenesis.
Data reveal a potential role of GASZ during embryonic germ cell development and provide a powerful in vitro system for dissecting the molecular pathways in early germ cell formation during embryogenesis.
Title: GASZ promotes germ cell derivation from embryonic stem cells.
GASZ is essential for meiosis and suppression of retrotransposon expression in the male germ cells.
Title: GASZ is essential for male meiosis and suppression of retrotransposon expression in the male germline.

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Variation

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Alleles

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

Targeted (1) 1 citation

General gene information

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Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
acts_upstream_of_or_within cell differentiation	IEA Inferred from Electronic Annotation more info
involved_in germ cell development	NAS Non-traceable Author Statement more info	PubMed
involved_in 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
acts_upstream_of_or_within regulatory ncRNA-mediated gene silencing	IEA Inferred from Electronic Annotation more info
involved_in retrotransposon silencing	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in spermatogenesis	IMP Inferred from Mutant Phenotype more info	PubMed

Component	Evidence Code	Pubs
located_in cytoplasm	IDA Inferred from Direct Assay more info	PubMed
located_in cytosol	TAS Traceable Author Statement more info
is_active_in pi-body	IBA Inferred from Biological aspect of Ancestor more info
located_in pi-body	IDA Inferred from Direct Assay more info	PubMed

General protein information

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Preferred Names: ankyrin repeat, SAM and basic leucine zipper domain-containing protein 1

Names: germ cell-specific ankyrin, SAM and basic leucine zipper domain containing 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.

mRNA and Protein(s)

NM_023729.3 → NP_076218.3 ankyrin repeat, SAM and basic leucine zipper domain-containing protein 1

See identical proteins and their annotated locations for NP_076218.3

Status: VALIDATED

Source sequence(s)

AF459789, BB020038, BC058859, BG088136

Consensus CDS

CCDS19929.1

UniProtKB/Swiss-Prot

G3X8S0, Q6PD92, Q8VD46, Q9JKQ7

Related

ENSMUSP00000010940.5, ENSMUST00000010940.11

Conserved Domains (6) summary

cd09521
Location:273 → 333

SAM_ASZ1; SAM domain of ASZ1 subfamily

cd00204
Location:77 → 202

ANK; ankyrin repeats; ankyrin repeats mediate protein-protein interactions in very diverse families of proteins. The number of ANK repeats in a protein can range from 2 to over 20 (ankyrins, for example). ANK repeats may occur in combinations with other ...

pfam12796
Location:83 → 179

Ank_2; Ankyrin repeats (3 copies)

pfam13637
Location:47 → 99

Ank_4; Ankyrin repeats (many copies)

pfam13857
Location:168 → 222

Ank_5; Ankyrin repeats (many copies)

sd00045
Location:151 → 179

ANK; ANK repeat [structural motif]

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_000072.7 Reference GRCm39 C57BL/6J

Range

18050963..18109060 complement

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_006505176.3 → XP_006505239.1 ankyrin repeat, SAM and basic leucine zipper domain-containing protein 1 isoform X1

See identical proteins and their annotated locations for XP_006505239.1

Conserved Domains (3) summary

cd09521
Location:124 → 184

SAM_ASZ1; SAM domain of ASZ1 subfamily

sd00045
Location:2 → 30

ANK; ANK repeat [structural motif]

pfam12796
Location:4 → 85

Ank_2; Ankyrin repeats (3 copies)
XM_006505178.3 → XP_006505241.1 ankyrin repeat, SAM and basic leucine zipper domain-containing protein 1 isoform X1

See identical proteins and their annotated locations for XP_006505241.1

Conserved Domains (3) summary

cd09521
Location:124 → 184

SAM_ASZ1; SAM domain of ASZ1 subfamily

sd00045
Location:2 → 30

ANK; ANK repeat [structural motif]

pfam12796
Location:4 → 85

Ank_2; Ankyrin repeats (3 copies)