Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	86
Gene name	Actin like 6A
Gene symbol	ACTL6A
Synonyms (NCBI Gene)	ACTL6ARPN-BETAArp4BAF53AINO80KSMARCN1
Chromosome	3
Chromosome location	3q26.33
Summary	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

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SNP ID	Visualize variation	Clinical significance	Consequence
rs868064163	C>T	Likely-pathogenic	Missense variant, coding sequence variant

Show/Hide all (68)

miRTarBase ID	miRNA	Experiments	Reference
MIRT030402	hsa-miR-24-3p	Microarray	19748357
MIRT031321	hsa-miR-18a-5p	Sequencing	20371350
MIRT050215	hsa-miR-25-3p	CLASH	23622248
MIRT053344	hsa-miR-206	Luciferase reporter assayWestern blot	23728344
MIRT053344	hsa-miR-206	Luciferase reporter assayWestern blot	23728344
MIRT735900	hsa-miR-216a-3p	Luciferase reporter assayWestern blottingqRT-PCR	32401366
MIRT763977	hsa-miR-1303	CLIP-seq
MIRT763978	hsa-miR-3121-3p	CLIP-seq
MIRT763979	hsa-miR-3123	CLIP-seq
MIRT763980	hsa-miR-3925-5p	CLIP-seq
MIRT763981	hsa-miR-4766-5p	CLIP-seq
MIRT763982	hsa-miR-548p	CLIP-seq
MIRT763983	hsa-miR-3168	CLIP-seq
MIRT763984	hsa-miR-374c	CLIP-seq
MIRT763985	hsa-miR-3923	CLIP-seq
MIRT763986	hsa-miR-4277	CLIP-seq
MIRT763987	hsa-miR-4490	CLIP-seq
MIRT763988	hsa-miR-655	CLIP-seq
MIRT763989	hsa-miR-1200	CLIP-seq
MIRT763990	hsa-miR-3074-5p	CLIP-seq
MIRT763991	hsa-miR-4324	CLIP-seq
MIRT763992	hsa-miR-4426	CLIP-seq
MIRT763993	hsa-miR-4647	CLIP-seq
MIRT763994	hsa-miR-4662b	CLIP-seq
MIRT763995	hsa-miR-496	CLIP-seq
MIRT763996	hsa-miR-544b	CLIP-seq
MIRT2166642	hsa-miR-18a	CLIP-seq
MIRT2166643	hsa-miR-18b	CLIP-seq
MIRT763983	hsa-miR-3168	CLIP-seq
MIRT2166644	hsa-miR-320a	CLIP-seq
MIRT2166645	hsa-miR-320b	CLIP-seq
MIRT2166646	hsa-miR-320c	CLIP-seq
MIRT2166647	hsa-miR-320d	CLIP-seq
MIRT763986	hsa-miR-4277	CLIP-seq
MIRT2166648	hsa-miR-4422	CLIP-seq
MIRT2166649	hsa-miR-4429	CLIP-seq
MIRT763987	hsa-miR-4490	CLIP-seq
MIRT2166650	hsa-miR-4735-3p	CLIP-seq
MIRT763977	hsa-miR-1303	CLIP-seq
MIRT2469069	hsa-miR-2054	CLIP-seq
MIRT2469070	hsa-miR-300	CLIP-seq
MIRT2469071	hsa-miR-302a	CLIP-seq
MIRT2469072	hsa-miR-302b	CLIP-seq
MIRT2469073	hsa-miR-302c	CLIP-seq
MIRT2469074	hsa-miR-302d	CLIP-seq
MIRT2469075	hsa-miR-302e	CLIP-seq
MIRT763978	hsa-miR-3121-3p	CLIP-seq
MIRT763979	hsa-miR-3123	CLIP-seq
MIRT2469076	hsa-miR-3163	CLIP-seq
MIRT2469077	hsa-miR-340	CLIP-seq
MIRT2469078	hsa-miR-3662	CLIP-seq
MIRT2469079	hsa-miR-372	CLIP-seq
MIRT2469080	hsa-miR-373	CLIP-seq
MIRT2469081	hsa-miR-381	CLIP-seq
MIRT763980	hsa-miR-3925-5p	CLIP-seq
MIRT2469082	hsa-miR-4666-3p	CLIP-seq
MIRT2469083	hsa-miR-4729	CLIP-seq
MIRT2469084	hsa-miR-4789-5p	CLIP-seq
MIRT2469085	hsa-miR-498	CLIP-seq
MIRT2469086	hsa-miR-519a	CLIP-seq
MIRT2469087	hsa-miR-519b-3p	CLIP-seq
MIRT2469088	hsa-miR-519c-3p	CLIP-seq
MIRT2469089	hsa-miR-520a-3p	CLIP-seq
MIRT2469090	hsa-miR-520b	CLIP-seq
MIRT2469091	hsa-miR-520c-3p	CLIP-seq
MIRT2469092	hsa-miR-520d-3p	CLIP-seq
MIRT2469093	hsa-miR-520e	CLIP-seq
MIRT763982	hsa-miR-548p	CLIP-seq

Show/Hide all (86)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000723	Process	Telomere maintenance	IEA
GO:0000723	Process	Telomere maintenance	ISO
GO:0000776	Component	Kinetochore	NAS	11078522
GO:0000785	Component	Chromatin	HDA	16217013
GO:0000785	Component	Chromatin	NAS	12192000, 29374058
GO:0000786	Component	Nucleosome	IDA	27153538
GO:0000786	Component	Nucleosome	NAS	16634648
GO:0001825	Process	Blastocyst formation	IEA
GO:0003407	Process	Neural retina development	IEP	18816825
GO:0003682	Function	Chromatin binding	IBA
GO:0003682	Function	Chromatin binding	IEA
GO:0003682	Function	Chromatin binding	TAS	9845365
GO:0003713	Function	Transcription coactivator activity	NAS	8804307
GO:0005515	Function	Protein binding	IPI	18026119, 27705803, 28514442, 28533407, 28649782, 33961781, 35140242, 35271311
GO:0005634	Component	Nucleus	IDA	18026119
GO:0005634	Component	Nucleus	IEA
GO:0005654	Component	Nucleoplasm	IDA
GO:0005654	Component	Nucleoplasm	IEA
GO:0005654	Component	Nucleoplasm	TAS
GO:0005886	Component	Plasma membrane	IDA
GO:0006275	Process	Regulation of DNA replication	IMP	25016522
GO:0006281	Process	DNA repair	IEA
GO:0006282	Process	Regulation of DNA repair	IEA
GO:0006282	Process	Regulation of DNA repair	ISO
GO:0006310	Process	DNA recombination	IEA
GO:0006325	Process	Chromatin organization	IEA
GO:0006338	Process	Chromatin remodeling	HDA	16217013
GO:0006338	Process	Chromatin remodeling	IBA
GO:0006338	Process	Chromatin remodeling	IC	18816825
GO:0006338	Process	Chromatin remodeling	IDA	11726552, 21303910
GO:0006338	Process	Chromatin remodeling	IEA
GO:0006338	Process	Chromatin remodeling	IEA
GO:0006338	Process	Chromatin remodeling	NAS	10078207, 16634648, 29374058
GO:0006338	Process	Chromatin remodeling	TAS	9845365
GO:0006355	Process	Regulation of DNA-templated transcription	NAS	16634648
GO:0006357	Process	Regulation of transcription by RNA polymerase II	IBA
GO:0006357	Process	Regulation of transcription by RNA polymerase II	NAS	8804307, 11263494, 17340523, 18809673, 29374058
GO:0006974	Process	DNA damage response	IEA
GO:0007165	Process	Signal transduction	TAS	9845365
GO:0007399	Process	Nervous system development	IBA
GO:0007399	Process	Nervous system development	IEA
GO:0008284	Process	Positive regulation of cell population proliferation	NAS	29374058
GO:0016363	Component	Nuclear matrix	NAS	9128241
GO:0016514	Component	SWI/SNF complex	IBA
GO:0016514	Component	SWI/SNF complex	IDA	8804307, 8895581, 11078522, 29374058
GO:0016514	Component	SWI/SNF complex	IEA
GO:0016514	Component	SWI/SNF complex	NAS	8804307
GO:0016586	Component	RSC-type complex	NAS	8804307
GO:0021510	Process	Spinal cord development	IEA
GO:0030071	Process	Regulation of mitotic metaphase/anaphase transition	NAS	23698369, 25066234
GO:0031011	Component	Ino80 complex	IDA	18026119, 21303910
GO:0031492	Function	Nucleosomal DNA binding	HDA	16217013
GO:0032991	Component	Protein-containing complex	HDA	16217013
GO:0033044	Process	Regulation of chromosome organization	IEA
GO:0033044	Process	Regulation of chromosome organization	IMP	26340092
GO:0035060	Component	Brahma complex	NAS	8804307
GO:0035267	Component	NuA4 histone acetyltransferase complex	IBA
GO:0035267	Component	NuA4 histone acetyltransferase complex	IDA	10966108, 14966270, 27153538
GO:0042981	Process	Regulation of apoptotic process	NAS	14966270
GO:0045582	Process	Positive regulation of T cell differentiation	NAS	12110891
GO:0045596	Process	Negative regulation of cell differentiation	NAS	30510198
GO:0045597	Process	Positive regulation of cell differentiation	NAS	11790558
GO:0045663	Process	Positive regulation of myoblast differentiation	NAS	11175787, 15985610
GO:0045739	Process	Positive regulation of DNA repair	IEA
GO:0045739	Process	Positive regulation of DNA repair	ISO
GO:0045893	Process	Positive regulation of DNA-templated transcription	IMP	27641337
GO:0045893	Process	Positive regulation of DNA-templated transcription	NAS	27153538
GO:0045995	Process	Regulation of embryonic development	IEA
GO:0045995	Process	Regulation of embryonic development	ISO
GO:0048731	Process	System development	IEA
GO:0051726	Process	Regulation of cell cycle	IMP	26340092, 27153538
GO:0060382	Process	Regulation of DNA strand elongation	IMP	25016522
GO:0070316	Process	Regulation of G0 to G1 transition	NAS	11790558
GO:0071564	Component	NpBAF complex	IDA	18816825
GO:0071564	Component	NpBAF complex	IEA
GO:0071564	Component	NpBAF complex	ISS
GO:0071564	Component	NpBAF complex	NAS	8804307
GO:0140288	Component	GBAF complex	NAS	29374058
GO:1902459	Process	Positive regulation of stem cell population maintenance	NAS	19279220, 30510198
GO:1904507	Process	Positive regulation of telomere maintenance in response to DNA damage	IEA
GO:1904507	Process	Positive regulation of telomere maintenance in response to DNA damage	ISO
GO:1905168	Process	Positive regulation of double-strand break repair via homologous recombination	IDA	27153538
GO:2000045	Process	Regulation of G1/S transition of mitotic cell cycle	NAS	10778858
GO:2000779	Process	Regulation of double-strand break repair	NAS	14966270
GO:2000781	Process	Positive regulation of double-strand break repair	NAS	16932743, 25066234
GO:2000819	Process	Regulation of nucleotide-excision repair	NAS	12215535

MIM	HGNC	e!Ensembl
604958	24124	ENSG00000136518

O96019

Protein 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)

Protein function

Involved in transcriptional activation and repression of select genes by chromatin remodeling (alteration of DNA-nucleosome topology). Component of SWI/SNF chromatin remodeling complexes that carry out key enzymatic activities, changing chromati

PDB

6LTJ , 7VDV , 7Y8R , 8QR1 , 8X15 , 8X19 , 8X1C , 8XVG , 8XVT , 9C4B , 9C57 , 9C62 , 9C6N

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF00022	Actin	8 → 429	Actin	Family

Sequence

MSGGVYGGDEVGALVFDIGSYTVRAGYAGEDCPKVDFPTAIGMVVERDDGSTLMEIDGDK
GKQGGPTYYIDTNALRVPRENMEAISPLKNGMVEDWDSFQAILDHTYKMHVKSEASLHPV
LMSEAPWNTRAKREKLTELMFEHYNIPAFFLCKTAVLTAFANGRSTGLILDSGATHTTAI
PVHDGYVLQQGIVKSPLAGDFITMQCRELFQEMNIELVPPYMIASKEAVREGSPANWKRK
EKLPQVTRSWHNYMCNCVIQDFQASVLQVSDSTYDEQVAAQMPTVHYEFPNGYNCDFGAE
RLKIPEGLFDPSNVKGLSGNTMLGVSHVVTTSVGMCDIDIRPGLYGSVIVAGGNTLIQSF
TDRLNRELSQKTPPSMRLKLIANNTTVERRFSSWIGGSILASLGTFQQMWISKQEYEEGG
KQCVERKCP

Sequence length

429

Interactions

View interactions

	KEGG		Reactome
	ATP-dependent chromatin remodeling Thermogenesis Hepatocellular carcinoma		RMTs methylate histone arginines UCH proteinases DNA Damage Recognition in GG-NER RUNX1 interacts with co-factors whose precise effect on RUNX1 targets is not known

Show/Hide Unknown Diseases (9)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
ACTL6A-related BAFopathy	Uncertain significance; Conflicting classifications of pathogenicity	rs2108360189, rs199792283, rs868064163	RCV001533036 RCV001533038 RCV001533037
ACTL6A-related disorder	Likely benign	rs149451650	RCV003906568
ACTL6A-related intellectual disability, autosomal dominant	Conflicting classifications of pathogenicity	rs868064163	RCV005253032
BAFopathy	Conflicting classifications of pathogenicity	rs868064163	RCV004586856
Delayed speech and language development	Uncertain significance	rs1035631360, rs1553778576	RCV000656493 RCV000656494
Familial pancreatic carcinoma	Benign	rs73883564	RCV005927701
Familial thoracic aortic aneurysm and aortic dissection	Conflicting classifications of pathogenicity	rs201010303	RCV005626761
Global developmental delay	Uncertain significance	rs1035631360, rs1553778576	RCV000656493 RCV000656494
Ovarian serous cystadenocarcinoma	Benign	rs73883564	RCV005927702

Show/Hide Text Mining Associations (21)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
Anemia Aplastic	Associate	29596882
Breast Neoplasms	Associate	38358781
Carcinoma Hepatocellular	Associate	30348114
Carcinoma Non Small Cell Lung	Associate	33896314
Carcinoma Squamous Cell	Associate	34687603
Coffin Siris syndrome	Associate	34906496
Colorectal Neoplasms	Associate	30348114, 36526622
Depressive Disorder Major	Associate	37098514
DNA Virus Infections	Associate	34898277
Glioma	Associate	29039584
Intellectual Disability	Associate	28649782
Kidney Diseases	Associate	31912158
Language Development Disorders	Associate	28649782
Learning Disabilities	Associate	28649782
Leukemia Promyelocytic Acute	Stimulate	30448346
Neoplasm Metastasis	Associate	30348114, 36768349
Neoplasms	Associate	29039584, 30348114, 31504061, 32170768, 36526622, 36768349, 36773604
Neoplasms	Stimulate	33896314
Ovarian Neoplasms	Associate	36768349
Sleep Apnea Obstructive	Associate	37244148
Stomach Neoplasms	Associate	37443154

ACTL6A (actin like 6A)