Actl7a actin-like 7a [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Actl7aprovided by MGI
Official Full Name: actin-like 7aprovided by MGI
Primary source: MGI:MGI:1343051
See related: Ensembl:ENSMUSG00000070979 AllianceGenome:MGI:1343051
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: Tact2
Summary: Involved in acrosome assembly and fertilization. Located in acrosomal vesicle; male germ cell nucleus; and motile cilium. Colocalizes with Golgi apparatus. Human ortholog(s) of this gene implicated in male infertility and spermatogenic failure 86. Orthologous to human ACTL7A (actin like 7A). [provided by Alliance of Genome Resources, Nov 2024]
Orthologs: human all
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Genomic context

Location:: 4 B3; 4 31.66 cM

Exon count:: 1

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	4	NC_000070.7 (56743422..56744925)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	4	NC_000070.6 (56743422..56744925)

Chromosome 4 - NC_000070.7 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?

Loss of ACTL7A causes small head sperm by defective acrosome-acroplaxome-manchette complex.
Title: Loss of ACTL7A causes small head sperm by defective acrosome-acroplaxome-manchette complex.
Testis-specific actin-like 7A (ACTL7A) is an indispensable protein for subacrosomal-associated F-actin formation, acrosomal anchoring, and male fertility.
Title: Testis-specific actin-like 7A (ACTL7A) is an indispensable protein for subacrosomal-associated F-actin formation, acrosomal anchoring, and male fertility.
Pathogenic variant in ACTL7A causes severe teratozoospermia characterized by bubble-shaped acrosomes and male infertility.
Title: Pathogenic variant in ACTL7A causes severe teratozoospermia characterized by bubble-shaped acrosomes and male infertility.
ACTL7a is an essential component of capacitation in mouse spermatozoa.
Title: Dynamic alterations in the expression and localization of ACTL7a during capacitation in mouse spermatozoa.
Anti-ACTL7a antibodies may cause infertility in mice because the in vitro treatment of mouse spermatozoa with ACTL7a antibody-containing serum markedly reduced the fertilizing potential of the spermatozoa.
Title: Anti-ACTL7a antibodies: a cause of infertility.
results suggest that T-ACTINs play important roles in sperm function and in the specific morphogenesis of spermatozoa during spermiogenesis
Title: Novel actin-like proteins T-ACTIN 1 and T-ACTIN 2 are differentially expressed in the cytoplasm and nucleus of mouse haploid germ cells.

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Variation

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Alleles

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

Endonuclease-mediated (2) 1 citation

General gene information

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Markers

AI507594 (e-PCR)
- UniSTS:164238

Actl7a (e-PCR), detects polymorphism
- UniSTS:141018

Gene Ontology Provided by MGI

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

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

Component	Evidence Code	Pubs
colocalizes_with Golgi apparatus	IDA Inferred from Direct Assay more info	PubMed
located_in acrosomal vesicle	IMP Inferred from Mutant Phenotype more info	PubMed
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 cytoplasm	IBA Inferred from Biological aspect of Ancestor more info
located_in cytoplasm	IDA Inferred from Direct Assay more info	PubMed
located_in cytoskeleton	IEA Inferred from Electronic Annotation more info
located_in male germ cell nucleus	IDA Inferred from Direct Assay more info	PubMed
located_in motile cilium	IDA Inferred from Direct Assay more info	PubMed
is_active_in nucleus	IBA Inferred from Biological aspect of Ancestor more info
located_in nucleus	IDA Inferred from Direct Assay more info	PubMed
part_of protein-containing complex	IEA Inferred from Electronic Annotation more info
part_of protein-containing complex	ISO Inferred from Sequence Orthology more info

General protein information

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Preferred Names: actin-like protein 7A

Names: T-actin-2; actin-like Tact2; actin-like-7-alpha; t-actin 2; testis-specific actin-2

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_009611.3 → NP_033741.1 actin-like protein 7A

See identical proteins and their annotated locations for NP_033741.1

Status: VALIDATED

Source sequence(s)

AB023063, BC049610

Consensus CDS

CCDS18197.1

UniProtKB/Swiss-Prot

A2AMK4, Q9D9P4, Q9JMI5, Q9QY84

Related

ENSMUSP00000092692.5, ENSMUST00000095079.6

Conserved Domains (3) summary

smart00268
Location:74 → 440

ACTIN; Actin

pfam16840
Location:6 → 70

ACTL7A_N; Actin-like protein 7A N-terminus

cl17037
Location:72 → 440

NBD_sugar-kinase_HSP70_actin; Nucleotide-Binding Domain of the sugar kinase/HSP70/actin superfamily