• Gene id: 10881

Gene Summary

• Gene Symbol: ACTL7A   Gene   UCSC   Ensembl
• Gene name: actin like 7A
• Alternate names: actin-like protein 7A, actin-like 7-alpha, testicular secretory protein Li 3,
• Gene location: 9q31.3 (108862265: 108863755)     Exons: 9     NC_000009.12
• Gene summary(Entrez): 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
• OMIM: 604303

Protein Summary

• Protein general information: Q9Y615  
  • Name: Actin like protein 7A (Actin like 7 alpha)
  • Length: 435  
  • Mass: 48644
  • Tissue specificity: Strongly expressed in testis. Also expressed in other tissues. {ECO
• Sequence:

  MWAPPAAIMGDGPTKKVGNQAPLQTQALQTASLRDGPAKRAVWVRHTSSEPQEPTESKAAKERPKQEVTKAVVVD
  LGTGYCKCGFAGLPRPTHKISTTVGKPYMETAKTGDNRKETFVGQELNNTNVHLKLVNPLRHGIIVDWDTVQDIW
  EYLFRQEMKIAPEEHAVLVSDPPLSPHTNREKYAEMLFEAFNTPAMHIAYQSRLSMYSYGRTSGLVVEVGHGVSY
  VVPIYEGYPLPSITGRLDYAGSDLTAYLLGLLNSAGNEFTQDQMGIVEDIKKKCCFVALDPIEEKKVPLSEHTIR
  YVLPDGKEIQLCQERFLCSEMFFKPSLIKSMQLGLHTQTVSCLNKCDIALKRDLMGNILLCGGSTMLSGFPNRLQ
  KELSSMCPNDTPQVNVLPERDSAVWTGGSILASLQGFQPLWVHRFEYEEHGPFFLYRRCF

• Structural information:
  • Interpro: IPR004000  IPR027679  IPR031769  
  • PDB: 2XQN
  • PDBsum: 2XQN
  • STRING: ENSP00000334300
• Other Databases: GeneCards:  ACTL7A  Malacards:  ACTL7A

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0015629	actin cytoskeleton	IBA	cellular component
GO:0005737	cytoplasm	IBA	cellular component
GO:0005634	nucleus	IBA	cellular component
GO:0032991	protein-containing complex	IDA	cellular component
GO:0005794	Golgi apparatus	ISS	colocalizes with
GO:0005737	cytoplasm	ISS	cellular component
GO:0005794	Golgi apparatus	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0005856	cytoskeleton	IEA	cellular component
GO:0005200	structural constituent of cytoskeleton	TAS	molecular function
GO:0005856	cytoskeleton	TAS	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0032991	protein-containing complex	IEA	cellular component
GO:0005794	Golgi apparatus	IEA	cellular component
GO:0001673	male germ cell nucleus	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0031514	motile cilium	IEA	cellular component
GO:0005794	Golgi apparatus	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0005856	cytoskeleton	IEA	cellular component
GO:0007010	cytoskeleton organization	IEA	biological process
GO:0005634	nucleus	HDA	cellular component

Diseases

Associated diseases	References
Male infertility	PMID:26957350
bladder urothelial carcinoma	PMID:29058301
Hypospermatogenesis	MIK: 28361989
Non obstructive azoospermia	MIK: 24012201
Sertoli cell only syndrome	MIK: 23869807
Spermatogenic defects	MIK: 31037746
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
24012201	Non obstructive azoospermia			31 (4 controls, 27 cases)	Male infertility	GSE45885 analyzed by GEO2R (cutoff 1.5 fold)
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
23869807	Non obstructive azoospermia, Sertoli cell only syndrome			20 (4 controls, 16 cases)	Male infertility	GSE45887 analyzed by GEO2R (cutoff 1.5 fold)
28361989	Hypospermatogenesis			6 (3 controls, 3 Klienfelter syndrome	Male infertility	Microarray
31037746	Spermatogenic defects			16 (1 control, 15 cases)	Male infertility	GSE6023 analyzed using GEO2R