ACTL7A (actin like 7A)

Gene
Gene miRNA Gene ontology Other IDs Protein Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
10881
Gene name Gene Name - the full gene name approved by the HGNC.
Actin like 7A
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
ACTL7A
Synonyms (NCBI Gene) Gene synonyms aliases
SPGF86
Chromosome Chromosome number
9
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
9q31.3
Summary Summary of gene provided in NCBI Entrez Gene.
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 feat
miRNA miRNA information provided by mirtarbase database.
Gene miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide all(1)
miRTarBase ID miRNA Experiments Reference
MIRT019146 hsa-miR-335-5p Microarray 18185580
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
Gene miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide all(31)
GO ID Ontology Definition Evidence Reference
GO:0001669 Component Acrosomal vesicle IDA 32923619
GO:0001669 Component Acrosomal vesicle IEA
GO:0001669 Component Acrosomal vesicle IMP 34727571
GO:0001673 Component Male germ cell nucleus IEA
GO:0001675 Process Acrosome assembly IEA
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene miRNA Gene ontology Other IDs Protein Associated diseases
MIM HGNC e!Ensembl
604303 161 ENSG00000187003
Protein
Gene miRNA Gene ontology Other IDs Protein Associated diseases
UniProt ID Q9Y615
Protein name Actin-like protein 7A (Actin-like-7-alpha)
Protein function Essential for normal spermatogenesis and male fertility. Required for normal sperm head morphology, acroplaxome formation, acrosome attachment, and acrosome granule stability. May anchor and stabilize acrosomal adherence to the acroplaxome at le
PDB 2XQN
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF16840 ACTL7A_N 1 → 65 Actin-like protein 7A N-terminus Domain
PF00022 Actin 66 → 435 Actin Family
Tissue specificity TISSUE SPECIFICITY: Strongly expressed in testis. Also expressed in other tissues. {ECO:0000269|PubMed:10373328}.
Sequence
Sequence length 435
Interactions View interactions
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Gene miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide Unknown Diseases (1)
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
Male infertility male infertility N/A N/A GenCC
Show/Hide Text Mining Associations (2)
Associations from Text Mining Disease associations identified through Pubtator
Disease Name Relationship Type References
Immunologic Deficiency Syndromes Associate 36742411
Infertility Associate 35532568