• Gene id: 1820

Gene Summary

• Gene Symbol: ARID3A   Gene   UCSC   Ensembl
• Aliases: BRIGHT, DRIL1, DRIL3, E2FBP1
• Gene name: AT-rich interaction domain 3A
• Alternate names: AT-rich interactive domain-containing protein 3A, ARID domain-containing 3A, ARID domain-containing protein 3A, AT rich interactive domain 3A (BRIGHT- like) protein, AT rich interactive domain 3A (BRIGHT-like), B-cell regulator of IgH transcription, E2F-binding,
• Gene location: 19p13.3 (925732: 975938)     Exons: 13     NC_000019.10
• Gene summary(Entrez): This gene encodes a member of the ARID (AT-rich interaction domain) family of DNA binding proteins. It was found by homology to the Drosophila dead ringer gene, which is important for normal embryogenesis. Other ARID family members have roles in embryonic
• OMIM: 603265

Protein Summary

• Protein general information: Q99856  
  • Name: AT rich interactive domain containing protein 3A (ARID domain containing protein 3A) (B cell regulator of IgH transcription) (Bright) (Dead ringer like protein 1) (E2F binding protein 1)
  • Length: 593  
  • Mass: 62889
  • Tissue specificity: Widely expressed, with highest expression in skeletal muscle, thalamus, and colon.
• Sequence:

  MKLQAVMETLLQRQQRARQELEARQQLPPDPPAAPPGRARAAPDEDREPESARMQRAQMAALAAMRAAAAGLGHP
  ASPGGSEDGPPGSEEEDAAREGTPGSPGRGREGPGEEHFEDMASDEDMKPKWEEEEMEEDLGEDEEEEEEDYEDE
  EEEEDEEGLGPPGPASLGTTALFPRKAQPPQAFRGDGVPRVLGGQERPGPGPAHPGGAAHVAPQLQPPDHGDWTY
  EEQFKQLYELDGDPKRKEFLDDLFSFMQKRGTPVNRIPIMAKQVLDLFMLYVLVTEKGGLVEVINKKLWREITKG
  LNLPTSITSAAFTLRTQYMKYLYPYECEKRGLSNPNELQAAIDSNRREGRRQSFGGSLFAYSPGGAHGMLSSPKL
  PVSSLGLAASTNGSSITPAPKIKKEEDSAIPITVPGRLPVSLAGHPVVAAQAAAVQAAAAQAAVAAQAAALEQLR
  EKLESAEPPEKKMALVADEQQRLMQRALQQNFLAMAAQLPMSIRINSQASESRQDSAVNLTGTNGSNSISMSVEI
  NGIMYTGVLFAQPPAPTPTSAPNKGGGGGGGSSSNAGGRGGNTGTSGGQAGPAGLSTPSTSTSNNSLP

• Structural information:
  • Protein Domains: (238..33-)
    (/note="ARID-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00355-)
    (444..54-)
    (/note="REKLES-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00819"-)
  • Interpro: IPR001606  IPR036431  IPR023334  
  • Prosite: PS51011 PS51486
  • PDB: 2KK0 4LJX
  • PDBsum: 2KK0 4LJX
  • STRING: ENSP00000263620
• Other Databases: GeneCards:  ARID3A  Malacards:  ARID3A

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0001228	DNA-binding transcription activator activity, RNA polymerase II-specific	IBA	molecular function
GO:0005634	nucleus	IBA	cellular component
GO:0000977	RNA polymerase II transcription regulatory region sequence-specific DNA binding	IBA	molecular function
GO:0003677	DNA binding	IEA	molecular function
GO:0003677	DNA binding	IEA	molecular function
GO:0005737	cytoplasm	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0045121	membrane raft	IDA	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0006977	DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest	TAS	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0045944	positive regulation of transcription by RNA polymerase II	IEA	biological process
GO:0042802	identical protein binding	IEA	molecular function
GO:0006355	regulation of transcription, DNA-templated	IEA	biological process
GO:0005634	nucleus	IEA	cellular component
GO:0003677	DNA binding	IEA	molecular function
GO:0000977	RNA polymerase II transcription regulatory region sequence-specific DNA binding	IEA	molecular function
GO:0003700	DNA-binding transcription factor activity	IEA	molecular function
GO:0003682	chromatin binding	IEA	molecular function
GO:0001228	DNA-binding transcription activator activity, RNA polymerase II-specific	IEA	molecular function
GO:0005634	nucleus	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0005654	nucleoplasm	IDA	cellular component
GO:0005829	cytosol	IDA	cellular component

Diseases

Associated diseases	References
Cryptorchidism	MIK: 28606200
Spermatogenic defects	MIK: 31037746
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq
31037746	Spermatogenic defects			28 men with azoospermia	Male infertility	Microarray