ACTL9 actin like 9 [Homo sapiens (human)] - Gene

Summary

Official Symbol: ACTL9provided by HGNC
Official Full Name: actin like 9provided by HGNC
Primary source: HGNC:HGNC:28494
See related: Ensembl:ENSG00000181786 MIM:619251; AllianceGenome:HGNC:28494
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: HSD21; SPGF53
Summary: Predicted to enable protein kinase binding activity. Predicted to be a structural constituent of postsynaptic actin cytoskeleton. Involved in acrosome assembly and fertilization. Located in acrosomal vesicle; perinuclear theca; and sperm head. Implicated in spermatogenic failure 53. [provided by Alliance of Genome Resources, Nov 2024]
Orthologs: mouse all
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Genomic context

Location:: 19p13.2

Exon count:: 1

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	19	NC_000019.10 (8697400..8698795, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	19	NC_060943.1 (8692998..8694393, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	19	NC_000019.9 (8807750..8809145, complement)

Chromosome 19 - NC_000019.10 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?

Identification of a new mutation in the ACTL9 gene in men with unexplained infertility.
Title: Identification of a new mutation in the ACTL9 gene in men with unexplained infertility.
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.
KIF3A and OVOL1, but not ACTL9, are involved in the development of Atopic dermatitis in the Chinese pediatric population.
Title: Correlation of KIF3A and OVOL1, but not ACTL9, with atopic dermatitis in Chinese pediatric patients.
Association of KIF3A, but not OVOL1 and ACTL9, with atopic eczema in Italian patients
Title: Association of KIF3A, but not OVOL1 and ACTL9, with atopic eczema in Italian patients.

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Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description	Tests
Spermatogenic failure 53 MedGen: C5543253 OMIM: 619258 GeneReviews: Not available	Compare labs

EBI GWAS Catalog

Description
Meta-analysis of genome-wide association studies identifies three new risk loci for atopic dermatitis. EBI GWAS Catalog EBI GWAS CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Gene Ontology Provided by GOA

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	IDA Inferred from Direct Assay more info	PubMed
involved_in postsynaptic actin cytoskeleton organization	IEA Inferred from Electronic Annotation more info
involved_in single fertilization	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
located_in acrosomal vesicle	IDA Inferred from Direct Assay more info	PubMed
is_active_in actin cytoskeleton	IBA Inferred from Biological aspect of Ancestor more info
located_in perinuclear theca	IDA Inferred from Direct Assay more info	PubMed
located_in sperm head	IDA Inferred from Direct Assay more info	PubMed

General protein information

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Preferred Names: actin-like protein 9

Names: testicular tissue protein Li 15; testicular tissue protein Li 9

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.