• Gene id: 51412

Gene Summary

• Gene Symbol: ACTL6B   Gene   UCSC   Ensembl
• Aliases: ACTL6, BAF53B, EIEE76, IDDSSAD, arpNalpha
• Gene name: actin like 6B
• Alternate names: actin-like protein 6B, 53 kDa BRG1-associated factor B, BRG1-associated factor 53B, actin-related protein Baf53b, hArpN alpha,
• Gene location: 7q22.1 (100656447: 100643096)     Exons: 14     NC_000007.14
• 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: 606671

Protein Summary

• Protein general information: O94805  
  • Name: Actin like protein 6B (53 kDa BRG1 associated factor B) (Actin related protein Baf53b) (ArpNalpha) (BRG1 associated factor 53B) (BAF53B)
  • Length: 426  
  • Mass: 46877
• Sequence:

  MSGGVYGGDEVGALVFDIGSFSVRAGYAGEDCPKADFPTTVGLLAAEEGGGLELEGDKEKKGKIFHIDTNALHVP
  RDGAEVMSPLKNGMIEDWECFRAILDHTYSKHVKSEPNLHPVLMSEAPWNTRAKREKLTELMFEQYNIPAFFLCK
  TAVLTAFANGRSTGLVLDSGATHTTAIPVHDGYVLQQGIVKSPLAGDFISMQCRELFQEMAIDIIPPYMIAAKEP
  VREGAPPNWKKKEKLPQVSKSWHNYMCNEVIQDFQASVLQVSDSPYDEQVAAQMPTVHYEMPNGYNTDYGAERLR
  IPEGLFDPSNVKGLSGNTMLGVGHVVTTSIGMCDIDIRPGLYGSVIVTGGNTLLQGFTDRLNRELSQKTPPSMRL
  KLIASNSTMERKFSPWIGGSILASLGTFQQMWISKQEYEEGGKQCVERKCP

• Structural information:
  • Interpro: IPR004000  IPR004001  
  • Prosite: PS00432
  • STRING: ENSP00000160382
• Other Databases: GeneCards:  ACTL6B  Malacards:  ACTL6B

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0003682	chromatin binding	IBA	molecular function
GO:0006357	regulation of transcription by RNA polymerase II	IBA	biological process
GO:0016514	SWI/SNF complex	IBA	cellular component
GO:0035267	NuA4 histone acetyltransferase complex	IBA	cellular component
GO:0007399	nervous system development	IBA	biological process
GO:0043044	ATP-dependent chromatin remodeling	IBA	biological process
GO:0043967	histone H4 acetylation	IBA	biological process
GO:0042551	neuron maturation	IMP	biological process
GO:0016358	dendrite development	IMP	biological process
GO:0071565	nBAF complex	ISS	cellular component
GO:0006325	chromatin organization	IEA	biological process
GO:0007399	nervous system development	IEA	biological process
GO:0005634	nucleus	IEA	cellular component
GO:0005200	structural constituent of cytoskeleton	TAS	molecular function
GO:0021510	spinal cord development	IEA	biological process
GO:0016514	SWI/SNF complex	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0071565	nBAF complex	IEA	cellular component
GO:0007399	nervous system development	IEA	biological process
GO:0003713	transcription coactivator activity	NAS	molecular function
GO:0016514	SWI/SNF complex	IDA	cellular component
GO:0006357	regulation of transcription by RNA polymerase II	NAS	biological process
GO:0006338	chromatin remodeling	IDA	biological process
GO:0005634	nucleus	IEA	cellular component
GO:1903508	positive regulation of nucleic acid-templated transcription	IEA	biological process
GO:0007010	cytoskeleton organization	IEA	biological process
GO:0005634	nucleus	IDA	cellular component
GO:0016514	SWI/SNF complex	ISS	cellular component
GO:0006325	chromatin organization	NAS	biological process

KEGG pathways

Pathway id	Pathway name
hsa04714	Thermogenesis
hsa05225	Hepatocellular carcinoma

Diseases

Associated diseases	References
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Cryptorchidism	MIK: 28606200
Hypospermatogenesis	MIK: 28361989

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq
28361989	Hypospermatogenesis			6 (3 controls, 3 Klienfelter syndrome	Male infertility	Microarray