ARID1A Gene
protein-coding GIFtS: 55
GCID: GC01P027022
|
|
AT rich interactive domain 1A (SWI-like)(Previous names: SWI/SNF related, matrix associated, actin dependent regulator...)
(Previous symbols: C1orf4, SMARCF1)
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Aliases
for ARID1A gene
(According to
1HGNC,
2Entrez Gene,
3UniProtKB/Swiss-Prot,
4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc,
7Ensembl,
8DME,
9miRBase,
and/or 10fRNAdb)
About This Section
|
| Aliases |
|---|
| AT Rich Interactive Domain 1A (SWI-Like)1 2 | | SWI/SNF Complex Protein P2702 3 | | B1201 2 3 5 | | SWI/SNF-Related, Matrix-Associated, Actin-Dependent Regulator Of ChromatinSubfamily F Member 12 3 | | C1orf41 2 3 5 | | C10rf41 | | BAF2501 2 3 | | AT Rich Interactive Domain 1A (SWI- Like)1 | | SMARCF11 2 3 | | SWI/SNF Related, Matrix Associated, Actin Dependent Regulator Of Chromatin,Subfamily F, Member 11 | | BAF250a1 2 | | BM0292 | | P2701 2 | | ELD2 | | Osa Homolog 12 3 | | MRD142 | | OSA12 3 | | AT-Rich Interactive Domain-Containing Protein 1A2 | | ARID Domain-Containing Protein 1A2 3 | | Brain Protein 1202 | | BRG1-Associated Factor 250a2 3 | | Chromatin Remodeling Factor P2502 | | HELD1 | | OSA1 Nuclear Protein2 | | HOSA11 | | BAF250A3 | | SWI-Like Protein2 3 | | BRG1-Associated Factor 2503 |
Export aliases for ARID1A gene to outside databasesPrevious GC identifers: GC01P026627 GC01P026706 GC01P026895 GC01P025309 |
Summaries
for ARID1A gene(According to Entrez Gene,
Tocris Bioscience,
Wikipedia's
Gene Wiki,
PharmGKB,
UniProtKB/Swiss-Prot,
and/or
UniProtKB/TrEMBL)
About This Section
|
Entrez Gene summary for ARID1A:
This gene encodes a member of the SWI/SNF family, whose members have helicase and ATPase activities and are thought toregulate transcription of certain genes by altering the chromatin structure around those genes. The encoded protein ispart of the large ATP-dependent chromatin remodeling complex SNF/SWI, which is required for transcriptional activationof genes normally repressed by chromatin. It possesses at least two conserved domains that could be important for itsfunction. First, it has a DNA-binding domain that can specifically bind an AT-rich DNA sequence known to be recognizedby a SNF/SWI complex at the beta-globin locus. Second, the C-terminus of the protein can stimulate glucocorticoidreceptor-dependent transcriptional activation. It is thought that the protein encoded by this gene confers specificityto the SNF/SWI complex and may recruit the complex to its targets through either protein-DNA or protein-proteininteractions. Two transcript variants encoding different isoforms have been found for this gene. (provided by RefSeq,Jul 2008)
UniProtKB/Swiss-Prot: ARI1A_HUMAN, O14497Function: Involved in transcriptional activation and repression of select genes by chromatin remodeling (alteration ofDNA-nucleosome topology). Binds DNA non-specifically. Also involved in vitamin D-coupled transcription regulation viaits association with the WINAC complex, a chromatin-remodeling complex recruited by vitamin D receptor (VDR), which isrequired for the ligand-bound VDR-mediated transrepression of the CYP27B1 gene. Belongs to the neuralprogenitors-specific chromatin remodeling complex (npBAF complex) and the neuron-specific chromatin remodeling complex(nBAF complex). During neural development a switch from a stem/progenitor to a post-mitotic chromatin remodelingmechanism occurs as neurons exit the cell cycle and become committed to their adult state. The transition fromproliferating neural stem/progenitor cells to post-mitotic neurons requires a switch in subunit composition of thenpBAF and nBAF complexes. As neural progenitors exit mitosis and differentiate into neurons, npBAF complexes whichcontain ACTL6A/BAF53A and PHF10/BAF45A, are exchanged for homologous alternative ACTL6B/BAF53B and DPF1/BAF45B orDPF3/BAF45C subunits in neuron-specific complexes (nBAF). The npBAF complex is essential for theself-renewal/proliferative capacity of the multipotent neural stem cells. The nBAF complex along with CREST plays arole regulating the activity of genes essential for dendrite growth (By similarity)
Gene Wiki entry for ARID1A
|
Genomic Views
for ARID1A gene
(According to
GeneLoc and/or
HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to
UCSC (hg19) and
Ensembl (release 69),
Regulatory elements and Epigenetics data according to
QIAGEN,
SABiosciences, and/or
SwitchGear Genomics)
About This Section
| RefSeq DNA sequence:- NC_000001.10 NC_018912.1 NT_004610.19
Regulatory elements:
 SABiosciences Regulatory transcription factor binding sites in the ARID1A gene promoter:
E2F-4 E2F-3a AREB6 E2F-5 E2F p53 E2F-1 E2F-2 Pax-4a GATA-1
Other transcription factors
Search SABiosciences Chromatin IP Primers for ARID1A
Epigenetics:
| | QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat ARID1A |
Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track
Entrez Gene cytogenetic band: 1p35.3 Ensembl cytogenetic band: 1p36.11 HGNC cytogenetic band: 1p36.1-p35ARID1A Gene in genomic location: bands according to Ensembl, locations according to
 (and/or Entrez Gene and/or Ensembl if different)
GeneLoc information about chromosome 1 GeneLoc Exon Structure GeneLoc location for GC01P027022: view genomic region
(about GC identifiers)
Start:
|
27,022,522 bp from pter |
End:
|
27,108,601 bp from pter |
Size:
|
86,080 bases |
Orientation:
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plus strand |
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Proteins
for ARID1A gene
(According to
1UniProtKB,
HORDE,
neXtProt,
Ensembl,
and/or Reactome,
Modification sites according to 2PhosphoSitePlus,
Specific Peptides from DME,
Protein expression images according to data from SPIRE MOPED and PaxDb,
RefSeq according to NCBI,
PDB rendering according to OCA and/or Proteopedia,
Recombinant Proteins
from
EMD Millipore,
R&D Systems,
GenScript,
Enzo Life Sciences,
OriGene,
Novus Biologicals,
Sino Biological,
ProSpec, and/or
Uscn,
Biochemical Assays by
EMD Millipore,
R&D Systems,
OriGene,
GenScript,
Cell Signaling Technology,
Enzo Life Sciences, and/or
Uscn,
Ontologies according to Gene
Ontology Consortium 01 Mar 2013 and
Entrez Gene,
Antibodies by
EMD Millipore,
R&D Systems,
GenScript,
Cell Signaling Technology,
OriGene,
Novus Biologicals,
Thermo Fisher Scientific,
Abcam, and/or
Uscn)
About This Section
|
UniProtKB/Swiss-Prot: ARI1A_HUMAN, O14497 (See
protein sequence)Recommended Name: AT-rich interactive domain-containing protein 1A Size: 2285 amino acids; 242045 Da
Subunit: Component of SWI/SNF chromatin remodeling complexes, in some of which it can be mutually exclusive withARID1B/BAF250B. Component of the BAF (SWI/SNF-A) complex, which includes at least actin (ACTB), ARID1A, ARID1B/BAF250,SMARCA2, SMARCA4/BRG1/BAF190A, ACTL6A/BAF53, ACTL6B/BAF53B, SMARCE1/BAF57, SMARCC1/BAF155, SMARCC2/BAF170,SMARCB1/SNF5/INI1, and one or more of SMARCD1/BAF60A, SMARCD2/BAF60B, or SMARCD3/BAF60C. In muscle cells, the BAFcomplex also contains DPF3. Component of the SWI/SNF-B (PBAF) complex, at least composed of SMARCA4/BRG1/BAF190A,SMARCB1/BAF47, ACTL6A/BAF53A or ACTL6B/BAF53B, SMARCE1/BAF57, SMARCD1/BAF60A, SMARCD2/BAF60B, perhaps SMARCD3/BAF60C,SMARCC1/BAF155, SMARCC2/BAF170, PB1/BAF180, ARID2/BAF200, ARID1A/BAF250A or ARID1B/BAF250B and actin. Component of theSWI/SNF Brm complex, at least composed of SMARCA2/BRM/BAF190B, SMARCB1/BAF47, ACTL6A/BAF53A or ACTL6B/BAF53B,SMARCE1/BAF57, BAF60 (one or more of SMARCD1/BAF60A, SMARCD2/BAF60B, or SMARCD3/BAF60C), SMARCC1/BAF155,SMARCC2/BAF170, ARID1A/BAF250A, SIN3A, HDAC1, HDAC2, and RBAP4. Component of the SWI/SNF complex Brg1(I), at leastcomposed of SMARCA4/BRG1/BAF190A, SMARCB1/BAF47, ACTL6A/BAF53A or ACTL6B/BAF53B, SMARCE1/BAF57, BAF60 (one or more ofSMARCD1/BAF60A, SMARCD2/BAF60B, or SMARCD3/BAF60C), SMARCC1/BAF155, SMARCC2/BAF170, ARID1A/BAF250A, SIN3A, andprobably HDAC2 and RBAP4. Component of the SWI/SNF Brg1(II), at least composed of SMARCA4/BRG1/BAF190A, SMARCB1/BAF47,ACTL6A/BAF53A or ACTL6B/BAF53B, SMARCE1/BAF57, SMARCC1/BAF155, SMARCC2/BAF170, ARID1A/BAF250A and probably HDAC2 andRBAP4. Component of a SWI/SNF-like EPAFa complex, at least composed of SMARCA4/BRG1/BAF190A, SMARCB1/BAF47,ACTL6A/BAF53A, SMARCE1/BAF57, SMARCD1/BAF60A, SMARCC1/BAF155, SMARCC2/BAF170, BAF250A and MLLT1/ENL. Component of aSWI/SNF-like complex containing ARID1A/BAF250A and ARID1B/BAF250B. Interacts through its C-terminus withSMARCA2/BRM/BAF190B and SMARCA4/BRG1/BAF190A. Component of the WINAC complex, at least composed of SMARCA2, SMARCA4,SMARCB1, SMARCC1, SMARCC2, SMARCD1, SMARCE1, ACTL6A, BAZ1B/WSTF, ARID1A, SUPT16H, CHAF1A and TOP2B. Interacts withSMARCC1/BAF155. Component of neural progenitors-specific chromatin remodeling complex (npBAF complex) composed of atleast, ARID1A/BAF250A or ARID1B/BAF250B, SMARCD1/BAF60A, SMARCD3/BAF60C, SMARCA2/BRM/BAF190B, SMARCA4/BRG1/BAF190A,SMARCB1/BAF47, SMARCC1/BAF155, SMARCE1/BAF57, SMARCC2/BAF170, PHF10/BAF45A, ACTL6A/BAF53A and actin. Component ofneuron-specific chromatin remodeling complex (nBAF complex) composed of at least, ARID1A/BAF250A or ARID1B/BAF250B,SMARCD1/BAF60A, SMARCD3/BAF60C, SMARCA2/BRM/BAF190B, SMARCA4/BRG1/BAF190A, SMARCB1/BAF47, SMARCC1/BAF155,SMARCE1/BAF57, SMARCC2/BAF170, DPF1/BAF45B, DPF3/BAF45C, ACTL6B/BAF53B and actin (By similarity)
Subcellular location: Nucleus
Sequence caution: Sequence=AAF75765.1; Type=Frameshift; Positions=374; Sequence=AAG33967.1; Type=Frameshift;Positions=872, 885; Sequence=BAA23269.1; Type=Frameshift; Positions=Several; Sequence=BAA83073.1; Type=Erroneous genemodel prediction; Sequence=BAA83073.1; Type=Frameshift; Positions=Several;
1 PDB 3D structure from  and Proteopedia  for ARID1A:1RYU (3D)
Secondary accessions: D3DPL1 Q53FK9 Q5T0W1 Q5T0W2 Q5T0W3 Q8NFD6 Q96T89 Q9BY33 Q9HBJ5 Q9UPZ1Alternative splicing: 3 isoforms: O14497-1 O14497-2 O14497-3 Explore the universe of human proteins at neXtProt for ARID1A: NX_O14497
Post-translational modifications:
View modification sites using PhosphoSitePlus2View neXtProt modification sites for NX_O14497
ARID1A Protein expression data from MOPED and PaxDb: About this image 
REFSEQ proteins (2 alternative transcripts):
NP_006006.3 NP_624361.1
ENSEMBL proteins: ENSP00000320485 ENSP00000387636 ENSP00000432473 ENSP00000363267 ENSP00000390317 ENSP00000432368 ENSP00000436692 ENSP00000442437
Human Recombinant Protein Products:
Gene Ontology (GO): 5/7 cellular component terms (GO ID links to tree view) (see all 7): About this table
ARID1A for ontologies About GeneDecksing
ARID1A Antibody Products:
Assay Products for ARID1A: |
Protein
Domains /
Families
for ARID1A gene(According to InterPro, ProtoNet,
UniProtKB, and/or BLOCKS,
Sets of similar genes according to GeneDecks)
About This Section
|
ARID1A for domains About GeneDecksing
2 InterPro domains/families:Graphical View of Domain Structure for InterPro Entry O14497ProtoNet protein and cluster: O14497 1 Blocks protein family: IPB001606 ARID (AT-rich interaction domain) protein
UniProtKB/Swiss-Prot: ARI1A_HUMAN, O14497Similarity: Contains 1 ARID domain |
Function
for ARID1A gene
(According to 1UniProtKB,
Genatlas,
LifeMap Discovery™,
IUBMB, and/or
2DME,
Human phenotypes from GenomeRNAi,
Animal models from MGI Mar 06 2013,
bound targets from SABiosciences,
miRNA Gene Targets from miRTarBase
shRNA from
OriGene,
RNAi from
EMD Millipore,
siRNAs from
OriGene,
QIAGEN,
microRNA from QIAGEN,
Gene Editing from DNA2.0,
Clones from EMD Millipore,
OriGene,
SwitchGear Genomics,
GenScript,
Sino Biological,
DNA2.0,
and Vector BioLabs,
Cell Lines from GenScript,
LifeMap BioReagents,
In Situ Hybridization Assays from Advanced Cell Diagnostics,
Ontologies according to Gene Ontology Consortium 01 Mar 2013 via
Entrez Gene.)
About This Section
|
Function Summary:
UniProtKB/Swiss-Prot: ARI1A_HUMAN, O14497Function: Involved in transcriptional activation and repression of select genes by chromatin remodeling (alteration ofDNA-nucleosome topology). Binds DNA non-specifically. Also involved in vitamin D-coupled transcription regulation viaits association with the WINAC complex, a chromatin-remodeling complex recruited by vitamin D receptor (VDR), which isrequired for the ligand-bound VDR-mediated transrepression of the CYP27B1 gene. Belongs to the neuralprogenitors-specific chromatin remodeling complex (npBAF complex) and the neuron-specific chromatin remodeling complex(nBAF complex). During neural development a switch from a stem/progenitor to a post-mitotic chromatin remodelingmechanism occurs as neurons exit the cell cycle and become committed to their adult state. The transition fromproliferating neural stem/progenitor cells to post-mitotic neurons requires a switch in subunit composition of thenpBAF and nBAF complexes. As neural progenitors exit mitosis and differentiate into neurons, npBAF complexes whichcontain ACTL6A/BAF53A and PHF10/BAF45A, are exchanged for homologous alternative ACTL6B/BAF53B and DPF1/BAF45B orDPF3/BAF45C subunits in neuron-specific complexes (nBAF). The npBAF complex is essential for theself-renewal/proliferative capacity of the multipotent neural stem cells. The nBAF complex along with CREST plays arole regulating the activity of genes essential for dendrite growth (By similarity)
Clone
Products: |  | Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore | |  | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for ARID1A (see all 5)
OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for ARID1A (see all 2)
OriGene custom cloning services – gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling 
| |  | GenScript: all cDNA clones in your preferred vector (see all 2): ARID1A (NM_139135) | |  | Browse Sino Biological Human cDNA Clones | |  | DNA2.0 Custom Codon Optimized Gene
Synthesis Service for ARID1A | |  | Search Vector BioLabs for ready-to-use adenovirus/AAV for human, mouse, rat ARID1A |
In Situ Assay
Products: |
 | Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for ARID1A |
Gene Ontology (GO): 4 molecular function terms (GO ID links to tree view): About this table
ARID1A for ontologies About GeneDecksing
Animal Models:
Mouse knock-outs for ARID1A: Arid1atm2Zhwa Arid1atm1Zhwa Arid1atm1.2Zhwa
4 MGI mutant phenotypes (inferred from 5 alleles ) (MGI details for Arid1a):
ARID1A for phenotypes About GeneDecksing
|
Pathways & Interactions
for ARID1A gene
(Pathways according to
EMD Millipore,
R&D Systems,
Cell Signaling Technology,
KEGG,
PharmGKB,
BioSystems,
Reactome,
Tocris Bioscience,
GeneGo (Thomson Reuters),
QIAGEN,
and/or UniProtKB,
Sets of similar genes according to GeneDecks,
Interaction Networks according to
SABiosciences,
and/or STRING,
Interactions according to 1UniProtKB,
2MINT,
3I2D, and/or
4STRING,
with links to IntAct and
Ensembl,
Ontologies according to Gene Ontology Consortium 01 Mar 2013 via
Entrez Gene).
About This Section
|
Unified GeneCards pathways About this table
See pathways by source
| Super-pathway | contained gene-specific pathways |
|---|
| 1 | Development_Ligand-dependent activation of the ESR1/AP-1 pathway | | | 2 | AMPK Enzyme Complex Pathway | | | 3 | PEDF Induced Signaling | |
Pathway sources
See GeneCards unified pathways
Show all pathways
2 EMD Millipore Pathways for ARID1A
2 Downloadable PowerPoint Slides of QIAGEN Pathway Central Maps for ARID1A
2  GeneGo (Thomson Reuters) Pathways for ARID1A
ARID1A for pathways About GeneDecksing
Interactions:
Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for ARID1A
STRING Interaction
Network Preview (showing 5 interactants - click image to see 25)
5/782 Interacting proteins for ARID1A (O144971, 2, 3 ENSP000003204854) via UniProtKB, MINT, STRING, and/or I2D (see all 782)| Interactant | Interaction Details |
|---|
| GeneCard | External ID(s) |
|---|
| SMARCA2 | P515311, 2, 3, ENSP000002657734 | EBI-637887,EBI-679562 MINT-7945693 I2D:
score=4 STRING: ENSP00000265773 | | SMARCD1 | Q96GM52, 3, ENSP000003784144 | MINT-7945693 MINT-7947479 I2D:
score=3 STRING: ENSP00000378414 | | HDAC1 | Q135472, 3, ENSP000003626494 | MINT-7945693 MINT-7947479 I2D:
score=2 STRING: ENSP00000362649 | | ADNP | Q9H2P02, 3, ENSP000003429054 | MINT-7945693 MINT-7947479 I2D:
score=1 STRING: ENSP00000342905 | | SMARCB1 | Q128242, 3, ENSP000002631214 | MINT-7945693 MINT-7947479 I2D:
score=1 STRING: ENSP00000263121 |
About this table
Gene Ontology (GO): 5/12 biological process terms (GO ID links to tree view) (see all 12): About this table
ARID1A for ontologies About GeneDecksing
|
Drugs & Compounds
for ARID1A gene(Chemical Compounds according to UniProtKB, Enzo Life Sciences,
EMD Millipore, Tocris Bioscience
HMDB,
BitterDB, and/or
Novoseek, and Drugs according to
DrugBank,
Enzo Life Sciences, and/or
PharmGKB, with drugs/clinical trials/news
search links to CenterWatch)
About This Section
|
 Browse Tocris compounds for ARID1A
Search CenterWatch for drugs/clinical trials and news about ARID1A / ARI1A
|
Transcripts
for ARID1A gene(Secondary structures according to
fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene
(Build 235 Homo sapiens; Mar 10 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or
AceView,
transcript ids from Ensembl
with links to UCSC,
exon structure from GeneLoc,
alternative splicing isoforms according to ASD and/or
ECgene,
RNAi Products from
EMD Millipore,
siRNAs from
OriGene,
QIAGEN,
shRNA from
OriGene,
microRNA from QIAGEN,
Tagged/untagged cDNA clones from
OriGene,
SwitchGear Genomics,
GenScript,
DNA2.0,
Vector BioLabs,
Primers from
OriGene,
SABiosciences, and/or
QIAGEN
)
About This Section
|
REFSEQ mRNAs for ARID1A gene (3 alternative transcripts): NM_006015.4 NM_139135.2 NM_018450.4 Unigene Cluster for ARID1A: AT rich interactive domain 1A (SWI-like) Hs.468972 [show with all ESTs]Unigene Representative Sequence: NM_0060159 Ensembl transcripts including schematic representations, and UCSC links where relevant: ENST00000324856(uc001bmt.1 uc001bmu.1 uc001bmv.1 uc001bmx.1 uc009vsm.1 uc009vsn.1)
ENST00000457599 ENST00000524572 ENST00000374152(uc001bmw.1) ENST00000430291
ENST00000430799 ENST00000466382 ENST00000532781 ENST00000540690
Clone
Products: | | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for ARID1A (see all 5)
OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for ARID1A (see all 2)
OriGene custom cloning services – gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling
| | | GenScript: all cDNA clones in your preferred vector (see all 2): ARID1A (NM_139135) | | | DNA2.0 Custom Codon Optimized Gene
Synthesis Service for ARID1A | | | Search Vector BioLabs for ready-to-use adenovirus/AAV for human, mouse, rat ARID1A |
Additional cDNA sequence: AB001895.1 AB210022.1 AF219114.1 AF231056.1 AF265208.1 AF268913.1 AF521670.1 AK027442.1 AK027655.1 AK074940.1 AK223275.1 AK308363.1 BC112895.1 20 DOTS entries: DT.80101892 DT.100820491 DT.95099951 DT.100820498 DT.95374384 DT.95306771 DT.92002745 DT.121415986 DT.91909049 DT.95125016 DT.75100076 DT.91762934 DT.92424902 DT.95125881 DT.95137717 DT.95153174 DT.95251905 DT.95316675 DT.100872497 DT.121415980 24/408 AceView cDNA sequences (see all 408): AW193067 BQ020715 BX442771 BE251304 BE263188 AF521670 AI693846 W68669 BQ676377 AA365243 CA424717 BU675355 BE382339 NM_139135 W07419 BF329923 BQ001162 T89199 AK027442 AW364066 AW592462 W57548 AA385744 BU619128
GeneLoc Exon Structure
5/13 Alternative Splicing Database (ASD) splice patterns (SP) for ARID1A (see all 13) About this scheme
| ExUns: | 1 | ^ | 2 | ^ | 3 | ^ | 4a | · | 4b | ^ | 5 | ^ | 6a | · | 6b | ^ | 7 | ^ | 8a | · | 8b | ^ | 9 | ^ | 10 | ^ | 11 | ^ | 12 | ^ | 13 | ^ | 14a | · | 14b | ^ | 15a | · | 15b | · | 15c | ^ | 16 | ^ | 17a | · | 17b | ^ | 18 | ^ | 19a | · |
|---|
|
| SP1: | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | |
| SP2: | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | |
| SP3: | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | |
| SP4: | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | |
| SP5: | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | |
| ExUns: | 19b | · | 19c | · | 19d | ^ | 20 | ^ | 21 | ^ | 22a | · | 22b | ^ | 23 | ^ | 24 |
|---|
|
| SP1: | | | | | | | | | | | | | | | | | | | |
| SP2: | | | | | | | | | | | | | | | | | | | |
| SP3: | | | | | | | | | | | | | | | | | | | |
| SP4: | | | | | | | | | | | | | | | | | | | |
| SP5: | | | | | | | | | | | | | | | | | | |
ECgene alternative splicing isoforms for ARID1A
|
Expression
for ARID1A gene
(RNA expression data according to
H-InvDB,
NONCODE,
miRBase, and
RNAdb,
Expression images according to data from
BioGPS,
Illumina Human BodyMap, and
CGAP
SAGE,
Sets of similar genes according to GeneDecks,
in vivo and in vitro expression data from LifeMap Discovery™,
plus additional links to
Genevestigator, and/or
SOURCE, and/or
BioGPS, and/or
UniProtKB,
PCR Arrays from
SABiosciences,
Primers from
OriGene,
SABiosciences, and/or
QIAGEN,
In Situ Hybridization Assays from Advanced Cell Diagnostics)
About This Section
| ARID1A expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: TGTGAACCTA
About this image
See ARID1A Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for ARID1A
SOURCE GeneReport for Unigene cluster: Hs.468972
UniProtKB/Swiss-Prot: ARI1A_HUMAN, O14497Tissue specificity: Highly expressed in spleen, thymus, prostate, testis, ovary, small intestine, colon, and PBL, andat a much lower level in heart, brain, placenta, lung, liver, skeletal muscle, kidney, and pancreas
SABiosciences Expression via Pathway-Focused PCR Arrays including ARID1A: | Polycomb & Trithorax Complexes in human mouse rat | | Epigenetic Chromatin Remodeling Factors in human mouse rat |
Primer
Products: | | OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for ARID1A
Browse OriGene validated miRNA SYBR primer pairs
| | | SABiosciences RT2 qPCR Primer Assay in human, mouse, rat ARID1A | | | QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat ARID1A | | | QIAGEN QuantiFast Probe-based Assays in human, mouse, rat ARID1A | In Situ
Assay Products: |
| Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for ARID1A |
Orthologs
for ARID1A gene
(Orthologs according to
1,2HomoloGene (2older version, for species not in 1newer version),
3euGenes,
4SGD
,
5MGI Mar 06 2013,
with possible further links to
Flybase
and/or
WormBase,
and/or
6Ensembl pan taxonomic compara ,
Gene Trees according to Ensembl and
TreeFam)
About This Section
|
This gene was present in the common ancestor of animals.
Orthologs for ARID1A gene from 6/23 species (see all 23) About this table
| Organism |
Taxonomic
classification |
Gene |
Description |
Human
Similarity |
Orthology
Type |
Details |
chicken
(Gallus gallus) |
Aves |
ARID1A1 |
AT rich interactive domain 1A (SWI-like) |
72.2(n)
76.93(a) |
|
419542 XM_417693.3 XP_417693.3 |
lizard
(Anolis carolinensis) |
Reptilia |
ARID1A6 |
-- |
84(a) |
1 ↔ 1 |
GL343488.1(48289-103487) |
African clawed frog
(Xenopus laevis) |
Amphibia |
BX843931.12 |
-- |
78.58(n) |
|
BX843931.1 |
zebrafish
(Danio rerio) |
Actinopterygii |
Dr.269312 |
Transcribed sequence with weak similarity to protein more |
84.69(n) |
|
CB357397.1 |
fruit fly
(Drosophila melanogaster) |
Insecta |
osa1 |
CG7467-PA |
44.84(n)
35.25(a) |
|
42130 NM_206506.1 NP_996228.1 |
worm
(Caenorhabditis elegans) |
Secernentea |
let-5266 |
LEThal family member (let-526) |
17(a) |
1 → many |
I(5301521-5310729) |
ENSEMBL Gene Tree for ARID1A (if available)
TreeFam Gene Tree for ARID1A (if available) |
Paralogs
for ARID1A gene(Paralogs according to
1HomoloGene,
2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
About This Section
| Paralogs for ARID1A gene
- ARID1B2 ARID3C2 ARID3A2 ARID3B2
2 SIMAP similar genes for ARID1A using alignment to 8 protein entries: ARI1A_HUMAN (see all proteins):ARID1A variant protein ARID1B
ARID1A for paralogs About GeneDecksing
|
Genomic Variants
for ARID1A gene(SNPs/Variants according to the
1NCBI SNP Database,
2Ensembl,
3PupaSUITE,
UniProtKB, and
DNA2.0,
Linkage Disequilibrium by HapMap,
Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene
Mutation Database (HGMD) and the Locus Specific Mutation
Databases (LSDB), Blood group antigen gene mutations by BGMUT,
Resequencing Primers from QIAGEN,
Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
About This Section
|
| Genomic Data | Transcription Related Data | Allele Frequencies | | SNP ID | Valid | Clinical
significance | Chr 1 pos | Sequence | # | AA
Chg | Type | More | # | Allele
freq | Pop | Total
sample | More |
|---|
HapMap Linkage Disequilibrium report for ARID1A (27022522 - 27108601 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV) variations for ARID1A: --
Human Gene Mutation Database (HGMD): ARID1A
Locus Specific Mutation Databases (LSDB): ARID1A
| 5/10 SABiosciences Cancer Mutation PCR Assays for ARID1A (see all 10): |
| 1 SABiosciences qBiomarker Copy Number PCR Array containing ARID1A: |
| | QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing ARID1A |
|
Disorders
/ Diseases
for ARID1A gene
(in which this Gene is Involved, According to MalaCards,
OMIM, UniProtKB,
the University of Copenhagen DISEASES
database,
Genatlas, GeneTests,
GAD,
HuGE Navigator,
and/or TGDB.)
About This Section
|
ARID1A for disorders About GeneDecksing
OMIM gene information: 603024
OMIM disorders: --
UniProtKB/Swiss-Prot: ARI1A_HUMAN, O14497
Defects in ARID1A are the cause of mental retardation autosomal dominant type 14 (MRD14) [MIM:614607]. Adisease characterized by multiple congenital anomalies and mental retardation. Mental retardation is defined bysignificantly below average general intellectual functioning associated with impairments in adaptative behavior andmanifested during the developmental period. MRD14 patients manifest developmental delay, abnormal corpus callosum,absent/hypoplastic fifth finger/toenails, sparse scalp hair, long eyelashes, and a coarse facial appearance with widemouth, thick lips, and abnormal ears
18  diseases for ARID1A: About MalaCardscoffin-siris syndrome papillary cystadenoma glucocorticoid resistance adenofibroma
acute lymphoblastic leukemia lymphoblastic leukemia fanconi's anemia williams syndrome
cystadenoma anemia ovarian carcinoma endometriosis
gastric cancer leukemia carcinoma neuroblastoma
prostatitis neuronitis
3 diseases from the University of Copenhagen DISEASES database for ARID1A:Endometriosis Coffin-Siris syndrome Adenofibroma Export disorders for ARID1A gene to outside databases
|
Publications
for ARID1A gene (in
PubMed.
Associations of this gene to articles via
1Entrez Gene,
2UniProtKB/Swiss-Prot,
3HGNC,
4GAD,
5PharmGKB,
6HMDB,
7DrugBank,
8UniProtKB/TrEMBL,
9 Novoseek, and/or
10fRNAdb)
About This Section
|
PubMed articles for ARID1A gene, integrated from 9 sources (see all 98):
(articles sorted by number of sources associating them with ARID1A) | |  | Utopia: connect your pdf to the dynamic
world of online information |
- Molecular cloning and expression of a novel human cDNA containing CAG repeats. (PubMed id 9434167)1, 2, 3 Takeuchi T.... Ohtsuki Y. (1997)
- Characterization of mammalian orthologues of the Drosophila osa gene: cDNA cloning, expression, chromosomal localization, and direct physical interaction with Brahma chromatin-remodeling complex. (PubMed id 11318604)1, 2, 9 Kozmik Z.... Vlcek C. (2001)
- The human SWI-SNF complex protein p270 is an ARID family member with non-sequence-specific DNA binding activity. (PubMed id 10757798)1, 2, 9 Dallas P.B....Moran E. (2000)
- Somatic mutations in the chromatin remodeling gene ARID1A occur in several tumor types. (PubMed id 22009941)1, 2 Jones S....Papadopoulos N. (2012)
- The DNA sequence and biological annotation of human chromosome 1. (PubMed id 16710414)1, 2 Gregory S.G.... Bentley D.R. (2006)
- Global, in vivo, and site-specific phosphorylation dynamics in signaling networks. (PubMed id 17081983)1, 2 Olsen J.V....Mann M. (2006)
- Two related ARID family proteins are alternative subunits of human SWI/SNF complexes. (PubMed id 15170388)1, 2 Wang X.... Moran E. (2004)
- Structure and DNA-binding sites of the SWI1 AT-rich interaction domain (ARID) suggest determinants for sequence-specific DNA recognition. (PubMed id 14722072)1, 2 Kim S.... Chen Y. (2004)
- Novel SWI/SNF chromatin-remodeling complexes contain a mixed-lineage leukemia chromosomal translocation partner. (PubMed id 12665591)1, 2 Nie Z.... Wang W. (2003)
- Recent advances in understanding chromatin remodeling by SWI/SNF complexes. (PubMed id 12672490)1, 2 Martens J.A. and Winston F. (2003)
|
External Searches for ARID1A gene
(in PubMed,
OMIM, and NCBI Bookshelf)
About This Section
|
|
Genome Databases showing ARID1A gene
(According to
Entrez Gene,
HGNC,
AceView,
euGenes,
Ensembl,
miRBase,
ECgene,
Kegg,
and/or
H-InvDB)
About This Section
|
|
Other Databases showing ARID1A gene
(According to HUGE)
About This Section
| -- |
Specialized Databases showing ARID1A gene(According to PharmGKB,
ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
About This Section
|
| Name | Description |
| PharmGKB entry for ARID1A | Pharmacogenomics, SNPs, Pathways |
|
| | |
About This Section
| Patent Information for ARID1A gene:
Search GeneIP for patents involving ARID1A
GeneCards and IP:
Japan Patent Office Licenses GeneCards European Patent Office Licenses GeneCards Improving the IP Search
|
Products
for ARID1A gene(Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Uscn, Thermo Fisher Scientific, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript and LifeMap BioReagents, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or
Enzo Life Sciences),
In Situ Hybridization Assays from
Advanced Cell Diagnostics
About This Section
|
 | |
 | |
 |
| | |  | Browse OriGene Antibodies | | OriGene shRNA RFP for ARID1A | | | OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for ARID1A | | OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for ARID1A | | | OriGene Protein Over-expression Lysate for ARID1A | | Browse OriGene Fluorogenic Cell Assay Kits | | | OriGene siRNA for ARID1A | | OriGene 3'-UTR Clone for ARID1A | | | OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for ARID1A | | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for ARID1A | | | Browse OriGene GFP tagged cDNA clones in CMV expression vector | | Browse OriGene MicroRNA Expression Plasmids | | | Browse OriGene basic RS shRNAs | | Browse OriGene validated miRNA SYBR primer pairs | | | Browse OriGene full length recombinant human proteins expressed in human HEK293 cells | | OriGene custom cloning services - gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling | | | OriGene Custom Antibody Services for ARID1A | | OriGene Custom Protein Services for ARID1A | | | OriGene Custom Immunoassay Development | | |
| |
 |
 |
| | | QIAGEN Custom miScript Target Protector blocks miRNA-binding site of in human, mouse, rat ARID1A | | | QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing ARID1A | | | QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat ARID1A | | | QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat ARID1A | | | QIAGEN QuantiFast Probe-based Assays in human, mouse, rat ARID1A | | | QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat ARID1A |
| |
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| | | | Search Tocris compounds for ARID1A |
| |  |  |  |  | | | | |
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| | | | | Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for ARID1A |
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| | | Search Vector BioLabs for ready-to-use adenovirus/AAV for human, mouse, rat ARID1A |
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