ACTL7A actin like 7A [Homo sapiens (human)] - Gene

Summary

Official Symbol: ACTL7Aprovided by HGNC
Official Full Name: actin like 7Aprovided by HGNC
Primary source: HGNC:HGNC:161
See related: Ensembl:ENSG00000187003 MIM:604303; AllianceGenome:HGNC:161
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: SPGF86
Summary: The protein encoded by this gene is a member of a family of actin-related proteins (ARPs) which share significant amino acid sequence identity to conventional actins. Both actins and ARPs have an actin fold, which is an ATP-binding cleft, as a common feature. The ARPs are involved in diverse cellular processes, including vesicular transport, spindle orientation, nuclear migration and chromatin remodeling. This gene (ACTL7A), and related gene, ACTL7B, are intronless, and are located approximately 4 kb apart in a head-to-head orientation within the familial dysautonomia candidate region on 9q31. Based on mutational analysis of the ACTL7A gene in patients with this disorder, it was concluded that it is unlikely to be involved in the pathogenesis of dysautonomia. The ACTL7A gene is expressed in a wide variety of adult tissues, however, its exact function is not known. [provided by RefSeq, Jul 2008]
Orthologs: mouse all
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Genomic context

Location:: 9q31.3

Exon count:: 1

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	9	NC_000009.12 (108862266..108863756)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	9	NC_060933.1 (121031393..121032883)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	9	NC_000009.11 (111624546..111626036)

Chromosome 9 - NC_000009.12 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?

A recessive ACTL7A founder variant leads to male infertility due to acrosome detachment in Pakistani Pashtuns.
Title: A recessive ACTL7A founder variant leads to male infertility due to acrosome detachment in Pakistani Pashtuns.
Novel variants in ACTL7A and PLCZ1 are associated with male infertility and total fertilization failure.
Title: Novel variants in ACTL7A and PLCZ1 are associated with male infertility and total fertilization failure.
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.
A novel homozygous mutation in ACTL7A leads to male infertility.
Title: A novel homozygous mutation in ACTL7A leads to male infertility.
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.
Molecular recognition of the Tes LIM2-3 domains by the actin-related protein Arp7A.
Title: Molecular recognition of the Tes LIM2-3 domains by the actin-related protein Arp7A.
The researchers found the 9q31 region is associated with adult height variation.
Title: Applying novel genome-wide linkage strategies to search for loci influencing type 2 diabetes and adult height in American Samoa.

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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 86 MedGen: CN372737 OMIM: 620499 GeneReviews: Not available	not available

EBI GWAS Catalog

Description
Novel breast cancer susceptibility locus at 9q31.2: results of a genome-wide association study. 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
enables structural constituent of cytoskeleton	TAS Traceable Author Statement more info	PubMed

Process	Evidence Code	Pubs
involved_in acrosome assembly	ISS Inferred from Sequence or Structural Similarity more info
involved_in cytoskeleton organization	IEA Inferred from Electronic Annotation more info
involved_in single fertilization	IEA Inferred from Electronic Annotation more info

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

General protein information

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Preferred Names: actin-like protein 7A

Names: actin-like 7-alpha; testicular secretory protein Li 3

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_006687.4 → NP_006678.1 actin-like protein 7A

See identical proteins and their annotated locations for NP_006678.1

Status: REVIEWED

Source sequence(s)

AL359692, BC014610, HY010941, HY195619

Consensus CDS

CCDS6772.1

UniProtKB/Swiss-Prot

B2RC83, Q5JSV0, Q9Y615

UniProtKB/TrEMBL

A0A140VK03

Related

ENSP00000334300.3, ENST00000333999.5

Conserved Domains (3) summary

smart00268
Location:69 → 435

ACTIN; Actin

pfam16840
Location:1 → 65

ACTL7A_N; Actin-like protein 7A N-terminus

cl17037
Location:67 → 435

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