ARID1A - AT-rich interaction domain 1A Gene

Also Known as ELD; B120; CSS2; OSA1; P270; hELD; BM029; MRD14; hOSA1; BAF250; C1orf4; BAF250a; SMARCF1

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 8289

About ARID1A

Cytogenetic location: 1p36.11 Genomic coordinates (GRCh38): 1:26,696,015-26,782,104 (from NCBI)

This gene has 16 transcripts (splice variants), 287 orthologues, 1 paralogue and is associated with 186 phenotypes. Ubiquitous expression in spleen (RPKM 14.3), lymph node (RPKM 13.2) and 25 other tissues.

Summary

This gene encodes a member of the SWI/SNF family, whose members have helicase and ATPase activities and are thought to regulate transcription of certain genes by altering the chromatin structure around those genes. The encoded protein is part of the large ATP-dependent chromatin remodeling complex SNF/SWI, which is required for transcriptional activation of genes normally repressed by chromatin. It possesses at least two conserved domains that could be important for its function. First, it has a DNA-binding domain that can specifically bind an AT-rich DNA sequence known to be recognized by a SNF/SWI complex at the beta-globin locus. Second, the C-terminus of the protein can stimulate glucocorticoid receptor-dependent transcriptional activation. It is thought that the protein encoded by this gene confers specificity to the SNF/SWI complex and may recruit the complex to its targets through either protein-DNA or protein-protein interactions. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]

ARID1A Products (2)

mRNA	Protein	Name
NM_006015.6	NP_006006.3	AT-rich interactive domain-containing protein 1A isoform a
NM_139135.4	NP_624361.1	AT-rich interactive domain-containing protein 1A isoform b

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	References	Source
enables DNA binding	IDA IDA: Inferred from direct assay	23129809	GOA
enables nuclear receptor binding	IPI IPI: Inferred from physical interaction	17363140	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	11780067	GOA
enables transcription coactivator activity	IDA IDA: Inferred from direct assay	12200431	GOA

Biological Process GO Annotation	Evidence	References	Source
involved in chromatin remodeling	IDA IDA: Inferred from direct assay	11726552	GOA
involved in nucleosome disassembly	IDA IDA: Inferred from direct assay	8895581	GOA
involved in positive regulation of DNA-templated transcription	IDA IDA: Inferred from direct assay	12200431	GOA

Cellular Component GO Annotation	Evidence	References	Source
part of SWI/SNF complex	IDA IDA: Inferred from direct assay	8804307	GOA
located in chromatin	IDA IDA: Inferred from direct assay	17363140	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

ARID1A Protein Structure

ARID

BAF250_C

0
400
800
1200
1600
2000
2285 a.a.

Protein Preferred Names	Protein Names
AT-rich interactive domain-containing protein 1A	ARID domain-containing protein 1A

ARID1A Protein-protein interaction Information

Type	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	References
Intra	ARID1A	O14497	HIC1	Homo sapiens	Q14526	Anti Bait CoIP	19486893
Intra	ARID1A	O14497	SMARCA4	Homo sapiens	P51532	Anti Tag CoIP	12200431
Intra	ARID1A	O14497	SMARCA4	Homo sapiens	P51532	CoIP	11988099
Intra	ARID1A	O14497	SMARCA4	Homo sapiens	P51532	Anti Bait CoIP	23540691
Intra	ARID1A	O14497	SMARCA4	Homo sapiens	P51532	Anti Tag CoIP	34591612
Intra	ARID1A	O14497	SMARCA4	Homo sapiens	P51532	Anti Bait CoIP	31759698
Intra	ARID1A	O14497	SMARCA4	Homo sapiens	P51532	CoIP	11780067
Intra	ARID1A	O14497	SMARCA4	Homo sapiens	P51532	Pull Down	12200431
Intra	ARID1A	O14497	SMARCA4	Homo sapiens	P51532	Anti Tag CoIP	35271311
Intra	ARID1A	O14497	SMARCD2	Homo sapiens	Q92925	Anti Tag CoIP	34591612
Intra	ARID1A	O14497	SMARCD2	Homo sapiens	Q92925	Anti Tag CoIP	35271311
Intra	ARID1A	O14497	SMARCA2	Homo sapiens	P51531	Anti Tag CoIP	34591612
Intra	ARID1A	O14497	SMARCA2	Homo sapiens	P51531	Anti Bait CoIP	12200431
Intra	ARID1A	O14497	SMARCA2	Homo sapiens	P51531	Anti Tag CoIP	35271311
Intra	ARID1A	O14497	SMARCA2	Homo sapiens	P51531	Pull Down	12200431

Cross: Cross-species interaction Intra: Intraspecies interaction

ARID1A Antibodies

Cat. No.	Product Name	Application	Reactivity
HY-P81413	ARID1A Antibody (YA1158)	IHC-P	Human
HY-P81413A	ARID1A Antibody (YA1158)(PBS only)	IHC-P	Human

Related Diseases

Diseases	Alias
Coffin-Siris Syndrome 2	CSS2 Mrd14 Mental Retardation, Autosomal Dominant 14 Autosomal Dominant Mental Retardation 14 Coffin-Siris Syndrome, Type 2
Coffin-Siris Syndrome 1	Coffin-Siris Syndrome Fifth Digit Syndrome Css CSS1 Mrd12 Mental Retardation, Autosomal Dominant 12 Hhid Dwarfism-Onychodysplasia Hypertrichosis, Hyperkeratosis, Mental Retardation, And Distinctive Facial Features Autosomal Dominant Mental Retardation 12 Short Stature-Onychodysplasia. Intellectual Disability With Absent Fifth Fingernail And Terminal Phalanx Mental Retardation With Hypoplastic Fifth Fingernails And Toenails Short Stature-Onychodysplasia Coffin-Siris Syndrome, Type 1 Mental Retardation, Autosomal Dominant, Type 12
Hydrops Fetalis, Nonimmune	Hydrops Fetalis Non-Immune Hydrops Fetalis NIHF Familial Non-Immune Hydrops Fetalis Hydrops Fetalis Nonimmune Idiopathic Hydrops Fetalis Hb Bart'S Hydrops Fetalis Alpha-Thalassemia Hydrops Fetalis Alpha-Thalassemia Major Hemoglobin Bart'S Hydrops Fetalis Homozygous Alpha0-Thalassemia Fetal Anasarca Fetal Hydrops Generalized Fetal Edema Hf Non-Immune Hf Non-Immune Fetal Edema Non-Immune Fetal Hydrops Hydrops Fetalis, Non-Immune Hemoglobin Bart'S Hydrops Syndrome
Colorectal Cancer	Colon Cancer Colorectal Carcinoma Colon Carcinoma Colorectal Cancer, Susceptibility To Carcinoma Of Colon CRC Colorectal Cancer With Chromosomal Instability, Somatic Colon Cancer, Somatic Colon Cancer, Susceptibility To Colonic Neoplasms Colorectal Neoplasms Colorectal Cancer, Somatic Colon Cancer, Advanced, Somatic Colonic Carcinoma Colorectal Carcinomas Colon Cancers Colorectal Cancers Cancer, Colorectal, Somatic Cancer, Colon Cancer, Colorectal, Susceptibility To Colorectal Neoplasm Colonic Neoplasm Malignant Tumor Of Colon
Periventricular Leukomalacia	Leukomalacia, Periventricular Pvl Leukomalacia Periventricular
Cerebellar Hypoplasia/Atrophy, Epilepsy, And Global Developmental Delay	CHEGDD
Endometrioid Ovary Carcinoma	Endometrioid Carcinoma Of Ovary Endometrioid Carcinoma Ovary Ovarian Endometrioid Carcinoma Malignant Ovarian Endometrioid Tumor Ovarian Endometrioid Tumor
Uterine Corpus Endometrial Carcinoma
Endocervical Adenocarcinoma	Endocervical Carcinoma
Clear Cell Adenofibroma	Cystadenofibroma
Ovarian Clear Cell Carcinoma	Clear-Cell Ovarian Carcinoma
Female Reproductive Endometrioid Cancer	Endometrioid Tumor Endometrioid Neoplasm Female Reproductive Endometrioid Neoplasm
Endometrial Hyperplasia
Ovarian Small Cell Carcinoma	Small Cell Carcinoma Of The Ovary Scco Small Cell Ovarian Carcinoma
Endometriosis Of Ovary	Ovarian Endometriosis
Microcephaly	Microencephaly Microcephalus Microcephalic Nanocephaly Congenital Microcephaly Brain Hypoplasia Brain Nondevelopment Cephalic Hypoplasia Undeveloped Cerebrum Undeveloped Brain Micrencephalon Micrencephaly
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1	Eec Syndrome Rudiger Syndrome 1 Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip-Palate Syndrome 1 EEC1 Eec Syndrome 1 Eec Syndrome-1 Walker-Clodius Syndrome Ectrodactyly-Ectodermal Dysplasia-Cleft Lip/Palate Syndrome Eec Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip-Palate Syndrome Ectrodactyly-Ectodermal Dysplasia-Clefting Syndrome Ectrodactyly-Cleft Lip/Palate Syndrome Ectrodactyly-Ectodermal Dysplasia-Cleft Lip/Cleft Palate Ectrodactyly-Ectodermal Dysplasia-Clefting Syndrome Ectrodactyly, Ectodermal Dysplasia, Clefting Syndrome Ectrodactyly-Cleft Lip-Palate Syndrome Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome
Ovarian Clear Cell Adenocarcinoma
Mixed Cell Type Cancer	Malignant Mixed Neoplasm Malignant Mixed Tumor Mixed Neoplasm Mixed Tumor, Malignant Malignant Mixed Cancer Mixed Tumor Malignant Mixed Tumor, Not Otherwise Specified Mixed Salivary Gland Tumor Mixed Tumor, Not Otherwise Specified
Hypertrichosis
Bile Duct Cancer	Bile Duct Carcinoma Extrahepatic Bile Duct Carcinoma Carcinoma Of Extrahepatic Bile Duct Extrahepatic Bile Duct Cancer Bile Duct Neoplasms Bile Duct Tumor Ca Extrahepatic Bile Ducts Malignant Neoplasm Of The Extrahepatic Bile Duct Bile Duct Extrahepatic Carcinoma Malignant Tumor Of Extrahepatic Bile Duct
Cervical Squamous Cell Carcinoma	Squamous Cell Carcinoma Of The Cervix Uteri Squamous Cell Carcinoma Of Cervix
Serous Cystadenocarcinoma	Serous Adenocarcinoma Cystadenocarcinoma, Serous Serous Carcinoma Cystadenocarcinoma Serous
Adenofibroma
Small Intestine Cancer	Small Intestine Carcinoma Cancer Of The Small Bowel Small Bowel Cancer Small Intestinal Carcinoma Malignant Neoplasms Of The Small Intestine Small Bowel Tumors Malignant Tumor Of Small Intestine Neoplasm Of Small Intestine
Bladder Urothelial Carcinoma	Bladder Transitional Cell Carcinoma Transitional Cell Carcinoma Of Bladder Transitional Cell Carcinoma Of The Bladder Urinary Bladder Urothelial Carcinoma Urothelial Bladder Carcinoma Carcinoma Transitional Cell Bladder Tcc - [Transitional Cell Carcinoma] Of Bladder
Autosomal Dominant Intellectual Developmental Disorder	Autosomal Dominant Mental Retardation Autosomal Dominant Non-Syndromic Mental Retardation Autosomal Dominant Non-Syndromic Intellectual Disability Mental Retardation, Autosomal Dominant
Ovary Adenocarcinoma	Ovarian Adenocarcinoma Adenocarcinoma Of The Ovary Ovarian Adenoacanthoma Adenocarcinoma Of Ovary
Ovarian Carcinosarcoma	Ovarian Malignant Mixed Mullerian Tumor Mmmt Of The Ovary Malignant Mixed Mullerian Tumor Of The Ovary Ovarian Malignant Mixed Epithelial Mesenchymal Tumor Ovarian Malignant Mesodermal Mixed Tumor Ovarian Mmmt Malignant Mixed Müllerian Tumor Of The Ovary Ovarian Malignant Mixed Müllerian Tumor Carcinosarcoma Of Ovary
Uterine Body Mixed Cancer	Malignant Mixed Tumor Of Corpus Uteri Malignant Mixed Tumor, Not Otherwise Specified
Uterine Corpus Cancer	Corpus Uteri Cancer Malignant Uterine Corpus Neoplasm
Clark-Baraitser Syndrome	CLABARS Baraitser Syndrome Autosomal Dominant Intellectual Disability 49 Mental Retardation, Autosomal Dominant 49, Formerly Mrd49, Formerly Intellectual Developmental Disorder, Autosomal Dominant 49 Autosomal Dominant Mental Retardation 49 Intellectual Disability, Tall Stature, Obesity, Macrocephaly And Typical Facial Features Mrd49 Progeria Short Stature Pigmented Nevi
Medullary Colon Carcinoma
Small-Cell Carcinoma Of The Ovary Of Hypercalcemic Type	Hypercalcemic Type Ovarian Small Cell Carcinoma Small Cell Carcinoma Of The Ovary, Hypercalcemic Type Ovarian Small Cell Carcinoma, Hypercalcemic Type
Adenoid Cystic Carcinoma	Adenocystic Carcinoma Cribriform Carcinoma Cylindroma Carcinoma Adenoid Cystic Carcinoma, Adenoid Cystic Adenoid Cystic Carcinoma Of Salivary Gland Eccrine Dermal Cylindroma Carcinoma, Cribriform
Rhabdoid Cancer	Rhabdoid Tumor Malignant Rhabdoid Tumor Malignant Rhabdoid Tumour Rhabdoid Sarcoma Rhabdoid Tumor Predisposition Syndrome 1 Rhabdoid Tumor Predisposition Syndrome 2 Atypical Teratoid Rhabdoid Tumor Brain Tumor, Posterior Fossa, Of Infancy, Familial Atypical Teratoid/Rhabdoid Tumor
Endometrial Serous Adenocarcinoma	Uterine Serous Carcinoma Uterine Corpus Serous Adenocarcinoma Uterine Papillary Serous Carcinoma
Malignant Ovarian Surface Epithelial-Stromal Neoplasm	Malignant Ovarian Surface Epithelial-Stromal Tumor
Clear Cell Adenocarcinoma	Mesonephroma Water-Clear Cell Adenocarcinoma Adenocarcinoma, Clear Cell Malignant Mesonephroma Mesonephroid Clear Cell Carcinoma Mesonephroma, Malignant Water-Clear Cell Carcinoma Wolffian Duct Neoplasm Adenocarcinoma Clear Cell Mesonephric Tumor
Neurilemmomatosis	Schwannomatosis Neurofibromatosis Type 3 Nf3 Neurilemmomatosis Congenital Cutaneous Neurinomatosis Congenital Cutaneous Neurilemmomatosis Multiple Neurilemmomas Multiple Schwannomas Neurilemmomatosis, Congenital Cutaneous Schwannomatosis 1 Neurofibromatosis 3 Mixed Central And Peripheral Neurofibromatosis Nf3 - [Neurofibromatosis Type 3]
Mismatch Repair Cancer Syndrome	Turcot Syndrome Brain Tumor-Polyposis Syndrome 1 Btp1 Syndrome Btps1 Childhood Cancer Syndrome Cmmr-D Syndrome Cmmrds Constitutional Mismatch Repair Deficiency Syndrome Mmr Deficiency Cancer Syndrome, Mismatch Repair Malignant Childhood Neoplasm
Spinal Meningioma	Spinal Cord Meningioma Meningioma, Spine Meningioma Meningioma, Benign, No Icd-O Subtype
Spinal Canal And Spinal Cord Meningioma
Intrahepatic Cholangiocarcinoma	Cholangiocarcinoma Intrahepatic Bile Duct Carcinoma Peripheral Cholangiocarcinoma Peripheral Intrahepatic Cholangiocarcinoma Adenocarcinoma Of Intra-Hepatic Bile Ducts Cholangiocarcinoma, Unspecified Site Cholangiocarcinoma Of Liver
Bartholin'S Gland Adenoid Cystic Carcinoma	Bartholin Gland Adenoid Cystic Carcinoma
Colon Adenocarcinoma	Adenocarcinoma Of Colon Adenocarcinoma Of The Colon Colonic Adenocarcinoma
Uterine Carcinosarcoma	Carcinosarcoma Of The Corpus Uteri Mixed Mullerian Sarcoma Of Uterus Malignant Mixed Müllerian Tumor Of The Corpus Uteri Malignant Mixed Müllerian Tumor Of Corpus Uteri Mixed Müllerian Cancer Of Corpus Uteri Malignant Mixed Mullerian Tumor Of The Corpus Uteri Mixed Mullerian Cancer Of Corpus Uteri Uterine Corpus Carcinosarcoma
Cystadenocarcinoma
Gallbladder Cancer	Gallbladder Carcinoma Gallbladder Neoplasm Malignant Neoplasm Of Gallbladder Malignant Tumour Of Gallbladder Gallbladder Ca Localized Malignant Gallbladder Neoplasm Malignant Tumor Of The Gallbladder Tumor Of The Gallbladder Cancer Of The Gallbladder Carcinoma Gallbladder Carcinoma Of Gallbladder Gallbladder Neoplasms Malignant Neoplasm Of Gallbladder Localized Cancer Of Gallbladder Primary Malignant Neoplasm Of Gallbladder
Uterine Benign Neoplasm
Reproductive Organ Benign Neoplasm
Ovary Epithelial Cancer	Ovarian Surface Epithelial-Stromal Tumor Epithelial Tumor Of Ovary
Fanconi Anemia, Complementation Group A	Fanconi Anemia Fanconi Pancytopenia Fanconi Anemia Complementation Group A FANCA Fa Fanconi Panmyelopathy Fanconi'S Anemia Fanconi Anaemia Fanconi'S Anaemia Fanconi Hypoplastic Anemia Estren-Dameshek Variant Of Fanconi Anemia Estren-Dameshek Variant Of Fanconi Pancytopenia Fanconi Anemia Estren-Dameshek Variant Fanconis Anemia
Endocervical Carcinoma	Carcinoma Of Endocervix Carcinoma Of The Endocervix
Lynch Syndrome	Hereditary Nonpolyposis Colon Cancer Hereditary Nonpolyposis Colorectal Cancer Hereditary Nonpolyposis Colorectal Carcinoma Hereditary Nonpolyposis Colorectal Neoplasms Familial Nonpolyposis Colon Cancer Hnpcc Coca 1 Hereditary Defective Mismatch Repair Syndrome Hereditary Non-Polyposis Colon Cancer Hereditary Non-Polyposis Colon Cancer Syndrome Hereditary Non-Polyposis Colorectal Cancer Hereditary Non-Polyposis Colorectal Cancer Syndrome Hereditary Nonpolyposis Colon Cancer Syndrome Hereditary Nonpolyposis Colorectal Cancer Syndrome Hereditary Nonpolyposis Colorectal Neoplasm Hnpcc - Hereditary Nonpolyposis Colon Cancer Cancer Family Syndrome Familial Nonpolyposis Colorectal Cancer Colon Cancer, Familial Nonpolyposis Colorectal Neoplasms, Hereditary Nonpolyposis Cancer, Colorectal, Nonpolyposis, Hereditary Colorectal Cancer, Hereditary Nonpolyposis, Type 1
Ovarian Seromucinous Carcinoma	Mixed Epithelial Carcinoma Of Ovary Ovary Mixed Epithelial Carcinoma
Ovarian Cystadenocarcinoma	Cystadenocarcinoma Of Ovary Cystadenocarcinoma Of The Ovary
Neural Tube Defects	Spina Bifida Neural Tube Defect NTD Neural Tube Defects, Susceptibility To Spinal Dysraphism Spina Bifida, Susceptibility To Rachischisis Cleft Spine Open Spine Hydrocele Spinalis Neural Tube Defect Nos Sb - [Spina Bifida] Spinal Hernia Nos Spinal Fissure Nos
Breast Juvenile Papillomatosis	Juvenile Papillomatosis Of The Breast
Papillary Adenofibroma
Fallopian Tube Endometrioid Adenocarcinoma	Endometrioid Carcinoma Of The Fallopian Tube Fallopian Tube Endometrioid Cancer Fallopian Tube Endometrioid Neoplasm Fallopian Tube Endometrioid Tumor
Salpingitis Isthmica Nodosa
Renal Cell Carcinoma, Nonpapillary	Renal Cell Carcinoma RCC Nonpapillary Renal Cell Carcinoma Clear Cell Renal Cell Carcinoma Hypernephroma Adenocarcinoma Of Kidney Renal Carcinoma, Chromophobe, Somatic Clear Cell Carcinoma Of Kidney Clear-Cell Metastatic Renal Cell Carcinoma Clear Cell Renal Carcinoma Renal Cell Carcinoma, Somatic Conventional Renal Cell Carcinoma Conventional Renal Cell Carcinoma Renal Clear Cell Carcinoma Ccrcc Hereditary Clear Cell Renal Cell Carcinoma Carcinoma, Renal Cell Renal Cell Carcinoma, Clear Cell, Somatic Renal Cell Carcinoma, Clear Cell Clear Cell Kidney Carcinoma Clear Cell Rcc Cystic-Multilocular Variant Clear Cell Renal Cell Adenocarcinoma Hereditary Clear Cell Renal Cell Adenocarcinoma Common Renal Cell Carcinoma Crcc Renal Cell Carcinoma Non-Papillary Carcinoma Renal Cell Renal Cell Cancer Carcinoma, Renal Cell, Nonpapillary
Hereditary Breast Ovarian Cancer Syndrome	Hereditary Breast And Ovarian Cancer Syndrome Brca1- And Brca2-Associated Hereditary Breast And Ovarian Cancer Breast And/Or Ovarian Cancer Breast And Ovarian Cancer Syndrome Hboc Syndrome Hereditary Breast And Ovarian Cancer Brca1- Brca2-Associated Hboc

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (4)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-114268	BRD-K98645985	Inhibitor	99.70%	Unkown
HY-RS00966	ARID1A Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS17472	Arid1a Mouse Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS23930	Arid1a Rat Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Mus musculus	ARID1A	MGD	MGI:1935147
Rattus norvegicus	ARID1A	RGD	RGD:1310500
Bos taurus	ARID1A	VGNC	VGNC:26123
Canis familiaris	ARID1A	VGNC	VGNC:38093
Felis catus	ARID1A	VGNC	VGNC:59911
Macaca mulatta	ARID1A	VGNC	VGNC:69822
Others	ARID1A	NCBI