CleftGeneDB-Search

Gene: Arid5b

Basic information

Tag	Content
Uniprot ID	Q8BM75; E9Q523; Q8C0E0; Q8K4G8; Q8K4L9; Q9CU78; Q9JIX4;
Entrez ID	71371
Genbank protein ID	BAB30727.1; BAC28778.1; BAC27467.1; AAM93282.1; AAM93269.1; AAF89682.1;
Genbank nucleotide ID	NM_023598.2
Ensembl protein ID	ENSMUSP00000151227; ENSMUSP00000151665;
Ensembl nucleotide ID	ENSMUSG00000019947
Gene name	AT-rich interactive domain-containing protein 5B
Gene symbol	Arid5b
Organism	Mus musculus
NCBI taxa ID	10090
Cleft type	CPO
Developmental stage
Data sources	Manually collected
Reference	17143286
Functional description	Transcription coactivator that binds to the 5'-AATA[CT]-3' core sequence and plays a key role in adipogenesis and liver development. Acts by forming a complex with phosphorylated PHF2, which mediates demethylation at Lys-337, leading to target the PHF2-ARID5B complex to target promoters, where PHF2 mediates demethylation of dimethylated 'Lys-9' of histone H3 (H3K9me2), followed by transcription activation of target genes. The PHF2-ARID5B complex acts as a coactivator of HNF4A in liver (By similarity). Required for adipogenesis: regulates triglyceride metabolism in adipocytes by regulating expression of adipogenic genes. Overexpression leads to induction of smooth muscle marker genes, suggesting that it may also act as a regulator of smooth muscle cell differentiation and proliferation.
Sequence	MEPNSLQWVG SPCGLHGPYI FYKAFQFHLE GKPRILSLGD FFFVRCTPKD PICIAELQLL 60 WEERTSRQLL SSSKLYFLPE DTPQGRNSDH GEDEVIAVSE KVIVKLEDLV KWAHSDFSKW 120 RCGLRATPVK TEAFGRNGQK EALLRYRQST LNSGLNFKDV LKEKADLGED EEETNVIVLS 180 YPQYCRYRSM LKRIQDKPSS ILTDQFALAL GGIAVVSRNP QILYCRDTFD HPTLIENESV 240 CDEFAPNLKG RPRKKKTCPQ RRDSFSGSKD PNNNCDGKVI SKVKGEARSA LTKPKNNHNN 300 CKKTSNEEKP KLSIGEECRA DEQAFLVALY KYMKERKTPI ERIPYLGFKQ INLWTMFQAA 360 QKLGGYETIT ARRQWKHIYD ELGGNPGSTS AATCTRRHYE RLILPYERFI KGEEDKPLPP 420 IKPRKQENNT QENENKTKVS GNKRIKQEMA KNKKEKENTP KPQDTSEVSS EQRKEEETLN 480 HKSAPEPLPA PEVKGKPEGH KDLGARAPVS RADPEKANET DQGSNSEKEA EEMGDKGLAP 540 LLPSPPLPPE KDSAPTPGAG KQPLASPSTQ MDSKQEAKPC CFTESPEKDL QGAPFSSFSA 600 TKPPLTSQNE AEEEQLPATA NYIANCTVKV DQLGSDDIHT ALKQTPKVLV VQSFDMFKDK 660 DLTGPMNENH GLNYTPLLYS RGNPGIMSPL AKKKLLSQVS GASLSSSYPY GSPPPLISKK 720 KLIAREDLCS GLSQGHHSQS SDHTAVSRPS VIQHVQSFKN KASEDRKSIN DIFKHDKLSR 780 SDAHRCGFSK HQLGSLADSY ILKQETQEGK DKLLEKRAVS HAHVPSFLAD FYSSPHLHSL 840 YRHTEHHLHN EQSSKYAARD AYQESENGAF LSHKHPEKIH VNYLASLHLQ DKKVAAAEAS 900 TDDQPTDLSL PKNPHKLTSK VLGLAHSTSG SQEIKGASQF QVVSNQSRDC HPKACRVSPM 960 TMSGPKKYPE SLARSGKPHQ VRLENFRKME GMVHPILHRK MSPQNIGAAR PIKRSLEDLD 1020 LVIAGKKARA VSPLDPAKEA SGKEKASEQE SEGNKGAYGG HSGAASEGHK LPLSTPIFPG 1080 LYSGSLCNSG LNSRLPAGYS HSLQYLKNQT VLSPLMQPLA FHSLVMQRGI FTSPTNSQQL 1140 YRHLAAATPV GSSYGDLLHN SIYPLAGINP QAAFPSSQLS SVHPSTKL 1188

Abbreviation :
CLO : cleft lip only. CPO : cleft palate only. CLP : cleft lip and palate. CL/P : cleft lip with/without cleft palate.
For humans: CL/P, CLO, CPO, and CLP. For mice: CLO, CLP, and CPO.

Protein structural annotations

3D structure in PDB database

There is no related protein structure for this gene.

Protein disorder information

Orthologous information

Relation	Gene symbol	Entrez ID	UniProt ID	Cleft type	Species	Evidence	Details
1:1 ortholog	ARID5B	479217	J9NV13		Canis lupus familiaris	Prediction	More>>
1:1 ortholog	ARID5B	102169735	A0A452F8Y8		Capra hircus	Prediction	More>>
1:1 ortholog	ARID5B	84159	Q14865		Homo sapiens	Prediction	More>>
1:1 ortholog	Arid5b	71371	Q8BM75	CPO	Mus musculus	Publication	More>>
1:1 ortholog	ARID5B	745725	K7DSK8		Pan troglodytes	Prediction	More>>
1:1 ortholog	ARID5B	100352095	G1U8W9		Oryctolagus cuniculus	Prediction	More>>
1:1 ortholog	arid5b		E7F888		Danio rerio	Prediction	More>>

Other genetic variants/mutations

ID	Variant	Type	Disease	Chromosome\Coordinate	Evidence
rs29713139	p.Ala113Val	missense variant	-	NC_000076.6:g.68243168G>A	UniProt
rs29340774	p.Lys474Glu	missense variant	-	NC_000076.6:g.68098651T>C	UniProt
rs29363880	p.Asn480Ser	missense variant	-	NC_000076.6:g.68098632T>C	UniProt
rs1132462986	p.Met666Val	missense variant	-	NC_000076.6:g.68098075T>C	UniProt
rs1132633221	p.Leu793His	missense variant	-	NC_000076.6:g.68097693A>T	UniProt
rs1132302232	p.Ala797Thr	missense variant	-	NC_000076.6:g.68097682C>T	UniProt
rs1133822556	p.Asp798Tyr	missense variant	-	NC_000076.6:g.68097679C>A	UniProt
rs29708124	p.Ala869Ser	missense variant	-	NC_000076.6:g.68097466C>A	UniProt
rs50617431	p.Ser872Tyr	missense variant	-	NC_000076.6:g.68097456G>T	UniProt
rs46314633	p.His875Asn	missense variant	-	NC_000076.6:g.68097448G>T	UniProt
rs1134357854	p.Pro911Ser	missense variant	-	NC_000076.6:g.68097340G>A	UniProt
rs29380667	p.Thr928Ala	missense variant	-	NC_000076.6:g.68097289T>C	UniProt
rs46056561	p.Ala937Thr	missense variant	-	NC_000076.6:g.68097262C>T	UniProt
rs47950696	p.Pro995Ser	missense variant	-	NC_000076.6:g.68097088G>A	UniProt
rs29336984	p.Gly1056Ser	missense variant	-	NC_000076.6:g.68096905C>T	UniProt

Gene Ontology (GO)/biological pathways

GO:Molecular Function

GO ID	GO Term	Evidence
GO:0000977	RNA polymerase II regulatory region sequence-specific DNA binding	ISO
GO:0001227	DNA-binding transcription repressor activity, RNA polymerase II-specific	ISO
GO:0003677	DNA binding	ISO
GO:0003713	transcription coactivator activity	ISS
GO:0003713	transcription coactivator activity	ISO
GO:0044212	transcription regulatory region DNA binding	ISS
GO:0044212	transcription regulatory region DNA binding	ISO
GO:0044212	transcription regulatory region DNA binding	IBA

GO:Biological Process

GO ID	GO Term	Evidence
GO:0000122	negative regulation of transcription by RNA polymerase II	ISO
GO:0001822	kidney development	IMP
GO:0006357	regulation of transcription by RNA polymerase II	IBA
GO:0006807	nitrogen compound metabolic process	IMP
GO:0008584	male gonad development	IMP
GO:0008585	female gonad development	IMP
GO:0009791	post-embryonic development	IMP
GO:0010761	fibroblast migration	IMP
GO:0030325	adrenal gland development	IMP
GO:0035264	multicellular organism growth	IMP
GO:0045444	fat cell differentiation	IMP
GO:0048008	platelet-derived growth factor receptor signaling pathway	IMP
GO:0048468	cell development	IMP
GO:0048644	muscle organ morphogenesis	IMP
GO:0048705	skeletal system morphogenesis	IMP
GO:0051091	positive regulation of DNA-binding transcription factor activity	ISO
GO:0051091	positive regulation of DNA-binding transcription factor activity	IMP
GO:0060021	roof of mouth development	IMP
GO:0060325	face morphogenesis	IMP
GO:0060612	adipose tissue development	IMP
GO:0060613	fat pad development	IMP
GO:1903508	positive regulation of nucleic acid-templated transcription	IEA
GO:1990830	cellular response to leukemia inhibitory factor	IEP

GO:Cellular Component

GO ID	GO Term	Evidence
GO:0005634	nucleus	IBA

Reactome Pathway

Reactome ID	Reactome Term	Evidence
R-MMU-3214842	HDMs demethylate histones	IEA
R-MMU-3247509	Chromatin modifying enzymes	IEA
R-MMU-4839726	Chromatin organization	IEA

Functional annotations

Keywords

Keyword ID	Keyword Term
KW-0010	Activator
KW-0025	Alternative splicing
KW-0903	Direct protein sequencing
KW-0238	DNA-binding
KW-1017	Isopeptide bond
KW-0488	Methylation
KW-0539	Nucleus
KW-0597	Phosphoprotein
KW-1185	Reference proteome
KW-0804	Transcription
KW-0805	Transcription regulation
KW-0832	Ubl conjugation

Interpro

InterPro ID	InterPro Term
IPR030408	ARID5B
IPR001606	ARID_dom
IPR036431	ARID_dom_sf
IPR043151	BAH_sf

PROSITE

PROSITE ID	PROSITE Term
PS51011	ARID

Pfam

Pfam ID	Pfam Term
PF01388	ARID

Gene: Arid5b

Basic information

Protein structural annotations

3D structure in PDB database

There is no related protein structure for this gene.

Protein disorder information

Orthologous information

Other genetic variants/mutations

Gene Ontology (GO)/biological pathways

GO:Molecular Function

GO:Biological Process

GO:Cellular Component

Reactome Pathway

Functional annotations

Keywords

Interpro

PROSITE

Pfam

Protein-protein interaction

Protein-miRNA interaction