• Gene id: 86

Gene Summary

• Gene Symbol: ACTL6A   Gene   UCSC   Ensembl
• Aliases: ACTL6, ARPN-BETA, Arp4, BAF53A, INO80K
• Gene name: actin like 6A
• Alternate names: actin-like protein 6A, 53 kDa BRG1-associated factor A, BAF complex 53 kDa subunit, BAF53, BRG1-associated factor 53A, INO80 complex subunit K, actin-related protein 4, actin-related protein Baf53a, arpNbeta, hArpN beta,
• Gene location: 3q26.33 (179562879: 179588406)     Exons: 14     NC_000003.12
• Gene summary(Entrez): This gene encodes a family member 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 feature. The ARPs are invo
• OMIM: 604958

SNPs

rs879253743

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000002.12   g.100975538C>A
NC_000002.12   g.100975538C>G
NC_000002.11   g.101592000C>A
NC_000002.11   g.101592000C>G
NG_023259.1   g.160388C>A
NG_023259.1   g.160388C>G
NM_002518.4   c.1363C>A
NM_002518.4   c.1363C>G
NM_002518.3   c.1363C>A
NM_002518.3   c.1363C>G
XM  

rs757326350

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000012.12   g.18688215T>A
NC_000012.12   g.18688215T>C
NC_000012.11   g.18841149T>A
NC_000012.11   g.18841149T>C
NG_050635.1   g.450251T>A
NG_050635.1   g.450251T>C
NG_052826.1   g.54845A>T
NG_052826.1   g.54845A>G
NM_033123.4   c.1465A>T
NM_033123.4   c.1465A>G
NM_0  

rs587777160

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000020.11   g.440344C>T
NC_000020.10   g.420988C>T
NG_034082.1   g.27210G>A
NM_144628.3   c.672G>A
NM_144628.4   c.672G>A
NM_144628.2   c.672G>A
NR_111901.1   n.820G>A
XM_006723540.3   c.486G>A
XM_005260661.1   c.672G>A
XM_017027645.1   c.486G>A
NP_653229.1   p.Trp224T

rs587777159

Strand:    Allele origin:   Allele change:   Mutation type: delins

NC_000020.11   g.442029_442030del
NC_000020.10   g.422673_422674del
NG_034082.1   g.25525_25526del
NM_144628.3   c.352_353del
NM_144628.4   c.352_353del
NM_144628.2   c.352_353del
NR_111901.1   n.500_501del
XM_006723540.3   c.166_167del
XM_005260661.1   c.352_353del
X  

rs587777158

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000020.11   g.445095G>A
NC_000020.10   g.425739G>A
NG_034082.1   g.22459C>T
NM_144628.3   c.292C>T
NM_144628.4   c.292C>T
NM_144628.2   c.292C>T
NR_111901.1   n.440C>T
XM_006723540.3   c.106C>T
XM_005260661.1   c.292C>T
XM_017027645.1   c.106C>T
NP_653229.1   p.Gln98Te

rs587777157

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000020.11   g.447946G>A
NC_000020.10   g.428590G>A
NG_034082.1   g.19608C>T
NM_144628.3   c.199C>T
NM_144628.4   c.199C>T
NM_144628.2   c.199C>T
NR_111901.1   n.347C>T
XM_005260661.1   c.199C>T
NP_653229.1   p.Arg67Ter
XP_005260718.1   p.Arg67Ter|SEQ=[G/A]|GENE=TBC1D

rs17431717

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000012.12   g.120474407G>A
NC_000012.11   g.120912210G>A|SEQ=[G/A]|GENE=DYNLL1

rs17115149

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000010.11   g.102837961G>A
NC_000010.11   g.102837961G>T
NC_000010.10   g.104597718G>A
NC_000010.10   g.104597718G>T
NG_007955.1   g.4573C>T
NG_007955.1   g.4573C>A
NG_055002.1   g.689G>A
NG_055002.1   g.689G>T|SEQ=[G/A/T]|GENE=CYP17A1

rs11677854

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000002.12   g.48664148C>T
NC_000002.11   g.48891287C>T
NG_033050.2   g.139224C>T
NG_033050.1   g.139224C>T|SEQ=[C/T]|GENE=GTF2A1L
STON1-GTF2A1L   286749

rs10849753

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000012.12   g.120473010C>A
NC_000012.12   g.120473010C>T
NC_000012.11   g.120910813C>A
NC_000012.11   g.120910813C>T|SEQ=[C/A/T]|GENE=DYNLL1

rs4804490

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000019.10   g.10156335C>A
NC_000019.9   g.10267011C>A
NG_028016.3   g.79952G>T|SEQ=[C/A]|GENE=DNMT1

rs12348

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000009.12   g.25677217T>C
NC_000009.12   g.25677217T>G
NC_000009.11   g.25677215T>C
NC_000009.11   g.25677215T>G
NG_012031.1   g.6642A>G
NG_012031.1   g.6642A>C
NM_001004125.2   c.*466A>G
NM_001004125.2   c.*466A>C|SEQ=[T/C/G]|GENE=TUSC1

rs7371084

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000002.12   g.48712814T>C
NC_000002.11   g.48939953T>C
NG_033050.2   g.187890T>C
NG_033050.1   g.187890T>C
NG_008193.2   g.47928A>G
NG_008193.1   g.47928A>G|SEQ=[T/C]|GENE=LHCGR
STON1-GTF2A1L   286749

rs5498

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000019.10   g.10285007A>G
NC_000019.9   g.10395683A>G
NG_012083.1   g.19167A>G
NM_000201.3   c.1405A>G
NM_000201.2   c.1405A>G
NG_007728.1   g.3034A>G
NP_000192.2   p.Lys469Glu|SEQ=[A/G]|GENE=ICAM1
ICAM4   3386

rs68073206

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000002.12   g.48721568A>C
NC_000002.11   g.48948707A>C
NG_033050.2   g.196644A>C
NG_033050.1   g.196644A>C
NG_008193.2   g.39174T>G
NG_008193.1   g.39174T>G|SEQ=[A/C]|GENE=LHCGR
STON1-GTF2A1L   286749

rs12470652

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000002.12   g.48694299T>C
NC_000002.11   g.48921438T>C
NG_033050.2   g.169375T>C
NG_033050.1   g.169375T>C
NG_008193.2   g.66443A>G
NG_008193.1   g.66443A>G
NM_000233.4   c.872A>G
NM_000233.3   c.872A>G
XM_005264309.3   c.-69A>G
XM_017004089.1   c.617A>G
XM_017004090  

rs2293275

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000002.12   g.48694236T>C
NC_000002.12   g.48694236T>G
NC_000002.11   g.48921375T>C
NC_000002.11   g.48921375T>G
NG_033050.2   g.169312T>C
NG_033050.2   g.169312T>G
NG_033050.1   g.169312T>C
NG_033050.1   g.169312T>G
NG_008193.2   g.66506A>G
NG_008193.2   g.66506A>C
  

rs4919686

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000010.11   g.102832492A>C
NC_000010.10   g.104592249A>C
NG_007955.1   g.10042T>G|SEQ=[A/C]|GENE=CYP17A1
CYP17A1-AS1   102724307

rs13447352

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000024.10   g.20587967A>C
NC_000024.9   g.22749853A>C|SEQ=[A/C]|GENE=EIF1AY

rs189037

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000011.10   g.108223106G>A
NC_000011.9   g.108093833G>A
NG_009830.1   g.5275G>A
NM_000051.4   c.-111G>A
NM_000051.3   c.-111G>A
NM_001351834.2   c.-199G>A
NM_001351834.1   c.-199G>A
NM_001351835.1   c.-111G>A
XM_011542844.3   c.-1133G>A
XM_011542842.3   c.-111G>A
XM_  

rs4597581

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000002.12   g.48731456A>G
NC_000002.11   g.48958595A>G
NG_033050.2   g.206532A>G
NG_033050.1   g.206532A>G
NG_008193.2   g.29286T>C
NG_008193.1   g.29286T>C|SEQ=[A/G]|GENE=LHCGR
STON1-GTF2A1L   286749

rs4953617

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000002.12   g.48726070C>G
NC_000002.12   g.48726070C>T
NC_000002.11   g.48953209C>G
NC_000002.11   g.48953209C>T
NG_033050.2   g.201146C>G
NG_033050.2   g.201146C>T
NG_033050.1   g.201146C>G
NG_033050.1   g.201146C>T
NG_008193.2   g.34672G>C
NG_008193.2   g.34672G>A
  

rs16999593

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000019.10   g.10180505T>C
NC_000019.9   g.10291181T>C
NG_028016.3   g.55782A>G
NM_001379.4   c.290A>G
NM_001379.3   c.290A>G
NM_001379.2   c.290A>G
NM_001130823.3   c.290A>G
NM_001130823.2   c.290A>G
NM_001130823.1   c.290A>G
NM_001318730.2   c.290A>G
NM_001318730.1  

rs2228612

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000019.10   g.10162696T>A
NC_000019.10   g.10162696T>C
NC_000019.10   g.10162696T>G
NC_000019.9   g.10273372T>A
NC_000019.9   g.10273372T>C
NC_000019.9   g.10273372T>G
NG_028016.3   g.73591A>T
NG_028016.3   g.73591A>G
NG_028016.3   g.73591A>C
NM_001379.4   c.931A>T
N  

rs2228611

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000019.10   g.10156401T>A
NC_000019.10   g.10156401T>C
NC_000019.9   g.10267077T>A
NC_000019.9   g.10267077T>C
NG_028016.3   g.79886A>T
NG_028016.3   g.79886A>G
NM_001379.4   c.1341A>T
NM_001379.4   c.1341A>G
NM_001379.3   c.1341A>T
NM_001379.3   c.1341A>G
NM_001379.  

rs2976084

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000003.12   g.75456899G>A
NC_000003.12   g.75456899G>T
NC_000003.11   g.75506050G>A
NC_000003.11   g.75506050G>T
NG_025593.1   g.34405C>T
NG_025593.1   g.34405C>A
NR_151706.1   n.721G>A
NR_151706.1   n.721G>T|SEQ=[G/A/T]|GENE=LINC02018

Protein Summary

• Protein general information: O96019  
  • Name: Actin like protein 6A (53 kDa BRG1 associated factor A) (Actin related protein Baf53a) (ArpNbeta) (BRG1 associated factor 53A) (BAF53A) (INO80 complex subunit K)
  • Length: 429  
  • Mass: 47461
• Sequence:

  MSGGVYGGDEVGALVFDIGSYTVRAGYAGEDCPKVDFPTAIGMVVERDDGSTLMEIDGDKGKQGGPTYYIDTNAL
  RVPRENMEAISPLKNGMVEDWDSFQAILDHTYKMHVKSEASLHPVLMSEAPWNTRAKREKLTELMFEHYNIPAFF
  LCKTAVLTAFANGRSTGLILDSGATHTTAIPVHDGYVLQQGIVKSPLAGDFITMQCRELFQEMNIELVPPYMIAS
  KEAVREGSPANWKRKEKLPQVTRSWHNYMCNCVIQDFQASVLQVSDSTYDEQVAAQMPTVHYEFPNGYNCDFGAE
  RLKIPEGLFDPSNVKGLSGNTMLGVSHVVTTSVGMCDIDIRPGLYGSVIVAGGNTLIQSFTDRLNRELSQKTPPS
  MRLKLIANNTTVERRFSSWIGGSILASLGTFQQMWISKQEYEEGGKQCVERKCP

• Structural information:
  • Interpro: IPR004000  IPR004001  
  • Prosite: PS00432
  • DIP: 27565
  • STRING: ENSP00000397552
• Other Databases: GeneCards:  ACTL6A  Malacards:  ACTL6A

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0035267	NuA4 histone acetyltransferase complex	IBA	cellular component
GO:0016514	SWI/SNF complex	IBA	cellular component
GO:0006357	regulation of transcription by RNA polymerase II	IBA	biological process
GO:0003682	chromatin binding	IBA	molecular function
GO:0043967	histone H4 acetylation	IBA	biological process
GO:0043044	ATP-dependent chromatin remodeling	IBA	biological process
GO:0007399	nervous system development	IBA	biological process
GO:0016514	SWI/SNF complex	IDA	cellular component
GO:0031011	Ino80 complex	IDA	cellular component
GO:0031011	Ino80 complex	IDA	cellular component
GO:0005634	nucleus	IDA	cellular component
GO:0071564	npBAF complex	ISS	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0006281	DNA repair	IEA	biological process
GO:0006325	chromatin organization	IEA	biological process
GO:0040008	regulation of growth	IEA	biological process
GO:0007399	nervous system development	IEA	biological process
GO:0006974	cellular response to DNA damage stimulus	IEA	biological process
GO:0006310	DNA recombination	IEA	biological process
GO:0005634	nucleus	IEA	cellular component
GO:0003682	chromatin binding	TAS	molecular function
GO:0006338	chromatin remodeling	TAS	biological process
GO:0007165	signal transduction	TAS	biological process
GO:0016579	protein deubiquitination	TAS	biological process
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005886	plasma membrane	IDA	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0001825	blastocyst formation	IEA	biological process
GO:0003682	chromatin binding	IEA	molecular function
GO:0016514	SWI/SNF complex	IEA	cellular component
GO:0071564	npBAF complex	IEA	cellular component
GO:0021510	spinal cord development	IEA	biological process
GO:0005634	nucleus	IEA	cellular component
GO:0006338	chromatin remodeling	IEA	biological process
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:0071564	npBAF complex	IDA	cellular component
GO:0003407	neural retina development	IEP	biological process
GO:0006357	regulation of transcription by RNA polymerase II	NAS	biological process
GO:0006338	chromatin remodeling	IC	biological process
GO:0006338	chromatin remodeling	IDA	biological process
GO:0005634	nucleus	IEA	cellular component
GO:0005654	nucleoplasm	IDA	cellular component
GO:1903508	positive regulation of nucleic acid-templated transcription	IEA	biological process
GO:0035267	NuA4 histone acetyltransferase complex	IDA	cellular component
GO:0035267	NuA4 histone acetyltransferase complex	IDA	cellular component
GO:0016514	SWI/SNF complex	IDA	cellular component
GO:0043968	histone H2A acetylation	IDA	biological process
GO:0043967	histone H4 acetylation	IDA	biological process
GO:0000978	RNA polymerase II cis-regulatory region sequence-specific DNA binding	HDA	contributes to
GO:0043044	ATP-dependent chromatin remodeling	HDA	biological process
GO:0000790	nuclear chromatin	HDA	cellular component
GO:0032991	protein-containing complex	HDA	cellular component
GO:0031492	nucleosomal DNA binding	HDA	contributes to

KEGG pathways

Pathway id	Pathway name
hsa04714	Thermogenesis
hsa05225	Hepatocellular carcinoma

Diseases

Associated diseases	References
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)
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
28361989	Hypospermatogenesis			6 (3 controls, 3 Klienfelter syndrome	Male infertility	Microarray
31037746	Spermatogenic defects			28 men with azoospermia	Male infertility	Microarray