Actl9 actin-like 9 [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Actl9provided by MGI
Official Full Name: actin-like 9provided by MGI
Primary source: MGI:MGI:1916731
See related: Ensembl:ENSMUSG00000092519 AllianceGenome:MGI:1916731
Gene type: protein coding
RefSeq status: PROVISIONAL
Organism: Mus musculus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as: 1700029I08Rik
Summary: Involved in acrosome assembly and fertilization. Predicted to be located in acrosomal vesicle; perinuclear theca; and sperm head. Predicted to be active in actin cytoskeleton. Human ortholog(s) of this gene implicated in spermatogenic failure 53. Orthologous to human ACTL9 (actin like 9). [provided by Alliance of Genome Resources, Dec 2024]
Orthologs: human all
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Genomic context

Location:: 17 B1; 17 17.98 cM

Exon count:: 1

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	17	NC_000083.7 (33651873..33653242)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	17	NC_000083.6 (33432899..33434268)

Chromosome 17 - NC_000083.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Homozygous pathogenic variants in ACTL9 cause fertilization failure and male infertility in humans and mice.
Title: Homozygous pathogenic variants in ACTL9 cause fertilization failure and male infertility in humans and mice.

Submit: New GeneRIF Correction

Variation

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Alleles

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

Endonuclease-mediated (5) 1 citation

General gene information

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Markers

AV259599 (e-PCR)
- UniSTS:180996

NoName (e-PCR)
- UniSTS:492876

Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables molecular_function	ND No biological Data available more info

Process	Evidence Code	Pubs
involved_in acrosome assembly	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in acrosome assembly	ISO Inferred from Sequence Orthology more info
involved_in fertilization	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in fertilization	ISO Inferred from Sequence Orthology more info
involved_in single fertilization	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
located_in acrosomal vesicle	ISO Inferred from Sequence Orthology more info
located_in acrosomal vesicle	ISS Inferred from Sequence or Structural Similarity more info
is_active_in actin cytoskeleton	IBA Inferred from Biological aspect of Ancestor more info
located_in perinuclear theca	ISO Inferred from Sequence Orthology more info
located_in perinuclear theca	ISS Inferred from Sequence or Structural Similarity more info
located_in sperm head	ISO Inferred from Sequence Orthology more info
located_in sperm head	ISS Inferred from Sequence or Structural Similarity more info

General protein information

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Preferred Names: actin-like protein 9

Names: actin-like 7A; actin-like 7-alpha

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.