ACTL7A (actin like 7A)

Gene

• Entrez ID: 10881
• Gene name: Actin like 7A
• Gene symbol: ACTL7A
• Synonyms (NCBI Gene): SPGF86
• Chromosome: 9
• Chromosome location: 9q31.3
• 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 feat

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT019146	hsa-miR-335-5p	Microarray	18185580

Gene ontology (GO)

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
GO:0001675	Process	Acrosome assembly	ISS
GO:0005200	Function	Structural constituent of cytoskeleton	TAS	10373328
GO:0005515	Function	Protein binding	IPI	21278383, 33626338, 38573307
GO:0005634	Component	Nucleus	HDA	21630459
GO:0005634	Component	Nucleus	IBA
GO:0005634	Component	Nucleus	IEA
GO:0005634	Component	Nucleus	ISS
GO:0005737	Component	Cytoplasm	IBA
GO:0005737	Component	Cytoplasm	IEA
GO:0005737	Component	Cytoplasm	ISS
GO:0005794	Component	Golgi apparatus	IEA
GO:0005794	Component	Golgi apparatus	IEA
GO:0005794	Component	Golgi apparatus	ISS
GO:0005856	Component	Cytoskeleton	IEA
GO:0005856	Component	Cytoskeleton	TAS	10373328
GO:0007010	Process	Cytoskeleton organization	IEA
GO:0007283	Process	Spermatogenesis	IEA
GO:0007286	Process	Spermatid development	IEA
GO:0007286	Process	Spermatid development	ISS
GO:0007338	Process	Single fertilization	IEA
GO:0009566	Process	Fertilization	IEA
GO:0009566	Process	Fertilization	ISS
GO:0030154	Process	Cell differentiation	IEA
GO:0031410	Component	Cytoplasmic vesicle	IEA
GO:0031514	Component	Motile cilium	IEA
GO:0032991	Component	Protein-containing complex	IDA	21278383

Other IDs

• MIM: 604303
• HGNC: 161
• e!Ensembl: ENSG00000187003

Protein

• 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:

  MWAPPAAIMGDGPTKKVGNQAPLQTQALQTASLRDGPAKRAVWVRHTSSEPQEPTESKAA
  KERPKQEVTKAVVVDLGTGYCKCGFAGLPRPTHKISTTVGKPYMETAKTGDNRKETFVGQ
  ELNNTNVHLKLVNPLRHGIIVDWDTVQDIWEYLFRQEMKIAPEEHAVLVSDPPLSPHTNR
  EKYAEMLFEAFNTPAMHIAYQSRLSMYSYGRTSGLVVEVGHGVSYVVPIYEGYPLPSITG
  RLDYAGSDLTAYLLGLLNSAGNEFTQDQMGIVEDIKKKCCFVALDPIEEKKVPLSEHTIR
  YVLPDGKEIQLCQERFLCSEMFFKPSLIKSMQLGLHTQTVSCLNKCDIALKRDLMGNILL
  CGGSTMLSGFPNRLQKELSSMCPNDTPQVNVLPERDSAVWTGGSILASLQGFQPLWVHRF
  EYEEHGPFFLYRRCF

• Sequence length: 435

Associated diseases

Evidence Score:

• ★☆☆☆☆  Gene-disease association found in Text Mining only
• ★★☆☆☆  Found in Text Mining and Unknown/Other Associations
• ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources
• ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants)
• ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Causal
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Male infertility with normal semen parameters	Pathogenic	rs745719906	RCV001845046	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Spermatogenic failure 86	Pathogenic	rs371671871, rs755704105, rs779515458, rs2537830634, rs2537831762	RCV003325422 RCV003325423 RCV003325424 RCV003325425 RCV003325426	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
MALE INFERTILITY	—	Disgenet, GenCC Disgenet, GenCC	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Bipolar Disorder	Bipolar Disorder	GWASCAT_DG	29064472		★☆☆☆☆ Found in Text Mining only
Dysautonomia, Familial	Dysautonomia	BEFREE	10373328		★☆☆☆☆ Found in Text Mining only
Infertility	Infertility	Pubtator	35532568	Associate	★☆☆☆☆ Found in Text Mining only
Schizoaffective Disorder	Schizoaffective Disorder	GWASCAT_DG	29064472		★☆☆☆☆ Found in Text Mining only
Schizophrenia	Schizophrenia	GWASCAT_DG	29064472		★☆☆☆☆ Found in Text Mining only