ARID3A AT-rich interaction domain 3A [Homo sapiens (human)] - Gene

Summary

Official Symbol: ARID3Aprovided by HGNC
Official Full Name: AT-rich interaction domain 3Aprovided by HGNC
Primary source: HGNC:HGNC:3031
See related: Ensembl:ENSG00000116017 MIM:603265; AllianceGenome:HGNC:3031
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: DRIL1; DRIL3; BRIGHT; E2FBP1
Summary: 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 patterning, cell lineage gene regulation, cell cycle control, transcriptional regulation, and possibly in chromatin structure modification. [provided by RefSeq, Jul 2008]
Expression: Broad expression in placenta (RPKM 13.1), bone marrow (RPKM 2.3) and 16 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 19p13.3

Exon count:: 12

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	19	NC_000019.10 (925732..975939)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	19	NC_060943.1 (888464..938643)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	19	NC_000019.9 (926035..975939)

Chromosome 19 - NC_000019.10 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

ARID3A variant and the risk of primary biliary cholangitis in a Central European cohort.
Title: ARID3A variant and the risk of primary biliary cholangitis in a Central European cohort.
A regulatory variant at 19p13.3 is associated with primary biliary cholangitis risk and ARID3A expression.
Title: A regulatory variant at 19p13.3 is associated with primary biliary cholangitis risk and ARID3A expression.
Several genetic variants associated with systemic sclerosis in a Chinese Han population.
Title: Several genetic variants associated with systemic sclerosis in a Chinese Han population.
Hepatic ARID3A facilitates liver cancer malignancy by cooperating with CEP131 to regulate an embryonic stem cell-like gene signature.
Title: Hepatic ARID3A facilitates liver cancer malignancy by cooperating with CEP131 to regulate an embryonic stem cell-like gene signature.
ARID3A promotes the chemosensitivity of colon cancer by inhibiting AKR1C3.
Title: ARID3A promotes the chemosensitivity of colon cancer by inhibiting AKR1C3.
MiR-361-3p promotes tumorigenesis of osteosarcoma cells via targeting ARID3A.
Title: MiR-361-3p promotes tumorigenesis of osteosarcoma cells via targeting ARID3A.
The megakaryocytic transcription factor ARID3A suppresses leukemia pathogenesis.
Title: The megakaryocytic transcription factor ARID3A suppresses leukemia pathogenesis.
Deficiencies in the DNA Binding Protein ARID3a Alter Chromatin Structures Important for Early Human Erythropoiesis.
Title: Deficiencies in the DNA Binding Protein ARID3a Alter Chromatin Structures Important for Early Human Erythropoiesis.
ARID3A regulates autophagy related gene BECN1 expression and inhibits proliferation of osteosarcoma cells.
Title: ARID3A regulates autophagy related gene BECN1 expression and inhibits proliferation of osteosarcoma cells.
Distinct and overlapping roles of ARID3A and ARID3B in regulating E2Fdependent transcription via direct binding to E2F target genes.
Title: Distinct and overlapping roles of ARID3A and ARID3B in regulating E2F‑dependent transcription via direct binding to E2F target genes.

Submit: New GeneRIF Correction See all GeneRIFs (40)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

EBI GWAS Catalog

Description
A genome-wide association study of optic disc parameters. EBI GWAS Catalog EBI GWAS CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables DNA binding	IBA Inferred from Biological aspect of Ancestor more info
enables chromatin binding	IEA Inferred from Electronic Annotation more info
enables identical protein binding	IEA Inferred from Electronic Annotation more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables transcription coregulator activity	IEA Inferred from Electronic Annotation more info

Process	Evidence Code	Pubs
involved_in positive regulation of transcription by RNA polymerase II	IEA Inferred from Electronic Annotation more info
involved_in regulation of transcription by RNA polymerase II	IBA Inferred from Biological aspect of Ancestor more info

Component	Evidence Code	Pubs
located_in cytosol	IDA Inferred from Direct Assay more info
located_in membrane raft	IDA Inferred from Direct Assay more info	PubMed
located_in nucleoplasm	IDA Inferred from Direct Assay more info
located_in nucleoplasm	TAS Traceable Author Statement more info
is_active_in nucleus	IBA Inferred from Biological aspect of Ancestor more info

General protein information

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Preferred Names: AT-rich interactive domain-containing protein 3A

Names: 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 protein 1; dead ringer-like 1; dead ringer-like protein 1

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

NM_005224.3 → NP_005215.1 AT-rich interactive domain-containing protein 3A

See identical proteins and their annotated locations for NP_005215.1

Status: REVIEWED

Source sequence(s)

AC005379, AC005391, BC060828, U88047

Consensus CDS

CCDS12050.1

UniProtKB/Swiss-Prot

Q5I858, Q6P9C6, Q8IZA7, Q8N4Z3, Q99856

Related

ENSP00000263620.2, ENST00000263620.8

Conserved Domains (1) summary

smart00501
Location:239 → 331

BRIGHT; BRIGHT, ARID (A/T-rich interaction domain) domain

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

NC_000019.10 Reference GRCh38.p14 Primary Assembly

Range

925732..975939

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_017026445.2 → XP_016881934.1 AT-rich interactive domain-containing protein 3A isoform X1

UniProtKB/Swiss-Prot

Q5I858, Q6P9C6, Q8IZA7, Q8N4Z3, Q99856

Conserved Domains (1) summary

smart00501
Location:239 → 331

BRIGHT; BRIGHT, ARID (A/T-rich interaction domain) domain
XM_005259514.5 → XP_005259571.1 AT-rich interactive domain-containing protein 3A isoform X1

See identical proteins and their annotated locations for XP_005259571.1

UniProtKB/Swiss-Prot

Q5I858, Q6P9C6, Q8IZA7, Q8N4Z3, Q99856

Conserved Domains (1) summary

smart00501
Location:239 → 331

BRIGHT; BRIGHT, ARID (A/T-rich interaction domain) domain
XM_005259513.6 → XP_005259570.1 AT-rich interactive domain-containing protein 3A isoform X1

See identical proteins and their annotated locations for XP_005259570.1

UniProtKB/Swiss-Prot

Q5I858, Q6P9C6, Q8IZA7, Q8N4Z3, Q99856

Conserved Domains (1) summary

smart00501
Location:239 → 331

BRIGHT; BRIGHT, ARID (A/T-rich interaction domain) domain
XM_047438380.1 → XP_047294336.1 AT-rich interactive domain-containing protein 3A isoform X2
XM_047438381.1 → XP_047294337.1 AT-rich interactive domain-containing protein 3A isoform X3

Alternate T2T-CHM13v2.0

Genomic

NC_060943.1 Alternate T2T-CHM13v2.0

Range

888464..938643

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_054320138.1 → XP_054176113.1 AT-rich interactive domain-containing protein 3A isoform X1
XM_054320139.1 → XP_054176114.1 AT-rich interactive domain-containing protein 3A isoform X1
XM_054320137.1 → XP_054176112.1 AT-rich interactive domain-containing protein 3A isoform X1
XM_054320140.1 → XP_054176115.1 AT-rich interactive domain-containing protein 3A isoform X2
XM_054320142.1 → XP_054176117.1 AT-rich interactive domain-containing protein 3A isoform X4
XM_054320141.1 → XP_054176116.1 AT-rich interactive domain-containing protein 3A isoform X3