• Gene id: 10880

Gene Summary

• Gene Symbol: ACTL7B   Gene   UCSC   Ensembl
• Aliases: Tact1
• Gene name: actin like 7B
• Alternate names: actin-like protein 7B, actin-like 7-beta, testis tissue sperm-binding protein Li 43a,
• Gene location: 9q31.3 (108855985: 108854587)     Exons: 1     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: 604304

Protein Summary

• Protein general information: Q9Y614  
  • Name: Actin like protein 7B (Actin like 7 beta)
  • Length: 415  
  • Mass: 45234
  • Tissue specificity: Detected only in the testis and, to a lesser extent, in the prostate. {ECO
• Sequence:

  MATRNSPMPLGTAQGDPGEAGTRPGPDASLRDTGAATQLKMKPRKVHKIKAVIIDLGSQYCKCGYAGEPRPTYFI
  SSTVGKRCPEAADAGDTRKWTLVGHELLNTEAPLKLVNPLKHGIVVDWDCVQDIWEYIFRTAMKILPEEHAVLVS
  DPPLSPSSNREKYAELMFETFGIPAMHVTSQSLLSIYSYGKTSGLVVESGHGVSHVVPISEGDVLPGLTSRADYA
  GGDLTNYLMQLLNEAGHAFTDDHLHIIEHIKKKCCYAAFLPEEELGLVPEELRVDYELPDGKLITIGQERFRCSE
  MLFQPSLAGSTQPGLPELTAACLGRCQDTGFKEEMAANVLLCGGCTMLDGFPERFQRELSLLCPGDSPAVAAAPE
  RKTSVWTGGSILASLQAFQQLWVSKEEFEERGSVAIYSKC

• Structural information:
  • Interpro: IPR004000  IPR027680  
  • STRING: ENSP00000363799
• Other Databases: GeneCards:  ACTL7B  Malacards:  ACTL7B

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:0005737	cytoplasm	IEA	cellular component
GO:0005856	cytoskeleton	IEA	cellular component
GO:0005200	structural constituent of cytoskeleton	TAS	molecular function
GO:0015629	actin cytoskeleton	TAS	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0005856	cytoskeleton	IEA	cellular component
GO:0007010	cytoskeleton organization	IEA	biological process

Diseases

Associated diseases	References
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Hypospermatogenesis	MIK: 28361989
Spermatogenic defects	MIK: 31037746
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
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