CleftGeneDB-Search

Gene: Asxl1

Basic information

Tag	Content
Uniprot ID	P59598
Entrez ID	228790
Genbank protein ID	BAC65695.1
Genbank nucleotide ID	NM_001039939.1
Ensembl protein ID	ENSMUSP00000105413
Ensembl nucleotide ID	ENSMUSG00000042548
Gene name	Polycomb group protein ASXL1
Gene symbol	Asxl1
Organism	Mus musculus
NCBI taxa ID	10090
Cleft type	CPO
Developmental stage
Data sources	Manually collected
Reference	24218140
Functional description	Probable Polycomb group (PcG) protein involved in transcriptional regulation mediated by ligand-bound retinoic acid receptors (RARs) and peroxisome proliferator-activated receptor gamma (PPARG) (PubMed:16606617). Acts as a coactivator of RARA and RXRA through association with NCOA1 (PubMed:16606617). Acts as a corepressor for PPARG and suppresses its adipocyte differentiation-inducing activity (PubMed:21047783). Non-catalytic component of the PR-DUB complex, a complex that specifically mediates deubiquitination of histone H2A monoubiquitinated at 'Lys-119' (H2AK119ub1) (By similarity). Acts as a sensor of N(6)-methyladenosine methylation on DNA (m6A): recognizes and binds m6A DNA, leading to its ubiquitination and degradation by TRIP12, thereby inactivating the PR-DUB complex and regulating Polycomb silencing (By similarity).
Sequence	MKDKQKRKKE RTWAEAARLV LENYSDAPMT PKQILQVIEA EGLKEMRSGT SPLACLNAML 60 HSNSRGGEGL FYKLPGRISL FTLKKDAVQW SRNAATVDGD EPEDSADVES CGSNEASTVS 120 GENDVSLDET SSNASCSTES QSRPLSNPRD SHRASSQANK QKKRTGVMLP RVVLTPLKVN 180 GAHVEPASGF SGRHADGESG SPSSSSSGSL ALGNSAIRGQ AEVTRDPAPL LRGFRKPATG 240 QMKRNRGEEV DFETPGSILV NTNLRALINS RTFHALPLHF QQQLLLLLPE VDRQVGTDGL 300 LRLSGSALNN EFFTHAAQSW RERLADGEFT HEMQVRLRQE MEKEKKVEQW KEKFFEDYYG 360 QKLGLTKEES LQQKEVQEEA KVKSGLCVSG ESVRPQRGPN TRQRDGHFKK RSRPDLRTRS 420 RRNIYKKQEP EQAGVAKDAS AAPDVSLSKD TKTDLAGVNS TPGPDVSSAT SGQEGPKCPS 480 EPVASQIQAE RDNLACASAS PDRIPTLPQD TVDQETKDQK RKSFEQEASA SFPEKKPRLE 540 DRQSFRNTIE SVHTEKPQPT KEEPKVPPIR IQLSRIKPPW VAKGRPTYQI CPRIVPITES 600 SCRGWTGART LADIKARALQ ARGARGYHCN RETATTAIGG GGGPGGGGSG AIDEGGGRDS 660 SSGDGSEACG HPEPRGAPST SGESASDLQR TQLLPPCPLN GEHTPAEAAM PRARREDSAS 720 LRKEESCLLK RVPGVLTSGL EDASQPPIAP TGDQPCQALP PLSSQTPVAE MLTEQPKLLL 780 DDRTECESSR EDQGPTIPSE SSSGRFPLGD LLGGGSDQAF DNMKEPVSMT PTFISELSLA 840 NYLQDRPDDD GLGLGATGLL IRESSRQEAL TEAFASGSPT SWVPILSNYE VIKTSDPESR 900 ENIPCPEPQD EKEWERAVPL IAATESVPQP ESCISHWTPP PAAVGSTGSD SEQVDLERLE 960 MNGISEAPSP HSESTDTASD SEGHLSEDSS EVDASEVTVV KGSLGGDEKQ DWDPSASLSK 1020 VNNDLSVLTR TGGVAASQSW VSRVCSVPHK IPDSLLLSST ECQPRSVCPL RPGSSVEVTN 1080 PLVMHLLHGN LPLEKVLPPG HRSSRLESSQ LPLREQSQDR GTLQGTGENN RLAARINPGS 1140 AQTLKESILA QSYGASAGLV RAMASKAPAM SQKIAKMVTS LDSQHPETEL TPSSGNLEEI 1200 DSKEHLSSFL CEEQKEGHSL SQGSDPGAAP GQCLGDHTTS KVPCFSSTNV SLSFGSEQTD 1260 GTLSDQNNAG GHEKKLFGPG NTVTTLQCPR SEEQTPLPAE VPPVFPSRKI EPSKNSVSGG 1320 VQTTRENRMP KPPPVSADSI KTEQTFLRDP IKADAENRKA AGYSSLELVG HLQGMPFVVD 1380 LPFWKLPREP GKGFSQPLEP SSIPSQLNIK QALYGKLSKL QLSPTSFNYS SSSATFPKGL 1440 AGGVVQLSHK ASFGTGHTAS LSLQMFADSS AVESISLQCA CSLKAMIMCQ GCGAFCHDDC 1500 IGPSKLCVLC LVVR 1514

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	ASXL1		A0A452G2F5		Capra hircus	Prediction	More>>
1:1 ortholog	ASXL1	171023	Q8IXJ9		Homo sapiens	Prediction	More>>
1:1 ortholog	Asxl1	228790	P59598	CPO	Mus musculus	Publication	More>>
1:1 ortholog	ASXL1		H2R3B7		Pan troglodytes	Prediction	More>>
1:1 ortholog	Asxl1		A0A0G2JU33		Rattus norvegicus	Prediction	More>>
1:1 ortholog	asxl1		F1RC47		Danio rerio	Prediction	More>>

Other genetic variants/mutations

ID	Variant	Type	Disease	Chromosome\Coordinate	Evidence
rs245381789	p.Asp226Asn	missense variant	-	NC_000068.7:g.153393459G>A	UniProt
rs221569447	p.Lys381Gln	missense variant	-	NC_000068.7:g.153397431A>C	UniProt
rs219633519	p.Thr461Pro	missense variant	-	NC_000068.7:g.153397671A>C	UniProt
rs28267861	p.Asp492Asn	missense variant	-	NC_000068.7:g.153397764G>A	UniProt
rs28267860	p.Ser523Pro	missense variant	-	NC_000068.7:g.153397857T>C	UniProt
rs33147334	p.Ser531Pro	missense variant	-	NC_000068.7:g.153397881T>C	UniProt
rs28267855	p.Arg715Lys	missense variant	-	NC_000068.7:g.153399672G>A	UniProt
rs28267854	p.Val827Ile	missense variant	-	NC_000068.7:g.153400007G>A	UniProt
rs28267853	p.Asp848Ala	missense variant	-	NC_000068.7:g.153400071A>C	UniProt
rs257109846	p.Gly855Arg	missense variant	-	NC_000068.7:g.153400091G>C	UniProt
rs215885701	p.Ser899Pro	missense variant	-	NC_000068.7:g.153400223T>C	UniProt
rs28267852	p.Asp1119His	missense variant	-	NC_000068.7:g.153400883G>C	UniProt
rs254125384	p.Gly1139Ala	missense variant	-	NC_000068.7:g.153400944G>C	UniProt
rs28267851	p.Ala1175Val	missense variant	-	NC_000068.7:g.153401052C>T	UniProt
rs28267850	p.Glu1187Val	missense variant	-	NC_000068.7:g.153401088A>T	UniProt
rs13476848	p.Thr1284Ala	missense variant	-	NC_000068.7:g.153401378A>G	UniProt
rs28267849	p.Asp1338Gly	missense variant	-	NC_000068.7:g.153401541A>G	UniProt
rs28267848	p.Lys1341Arg	missense variant	-	NC_000068.7:g.153401550A>G	UniProt
rs28267845	p.Ala1467Thr	missense variant	-	NC_000068.7:g.153401927G>A	UniProt

Gene Ontology (GO)/biological pathways

GO:Molecular Function

GO ID	GO Term	Evidence
GO:0003677	DNA binding	IEA
GO:0003682	chromatin binding	IBA
GO:0003713	transcription coactivator activity	IDA
GO:0005515	protein binding	IPI
GO:0042974	retinoic acid receptor binding	IDA
GO:0042975	peroxisome proliferator activated receptor binding	IDA
GO:0042975	peroxisome proliferator activated receptor binding	IBA
GO:0046872	metal ion binding	IEA

GO:Biological Process

GO ID	GO Term	Evidence
GO:0000902	cell morphogenesis	IMP
GO:0003007	heart morphogenesis	IMP
GO:0006351	transcription, DNA-templated	IEA
GO:0009887	animal organ morphogenesis	IMP
GO:0009887	animal organ morphogenesis	IBA
GO:0010888	negative regulation of lipid storage	IEA
GO:0030097	hemopoiesis	IMP
GO:0032526	response to retinoic acid	IDA
GO:0035359	negative regulation of peroxisome proliferator activated receptor signaling pathway	IDA
GO:0035522	monoubiquitinated histone H2A deubiquitination	ISS
GO:0035522	monoubiquitinated histone H2A deubiquitination	ISO
GO:0035564	regulation of kidney size	IMP
GO:0045599	negative regulation of fat cell differentiation	IDA
GO:0045944	positive regulation of transcription by RNA polymerase II	IDA
GO:0045944	positive regulation of transcription by RNA polymerase II	IBA
GO:0048386	positive regulation of retinoic acid receptor signaling pathway	IDA
GO:0048534	hematopoietic or lymphoid organ development	IMP
GO:0048538	thymus development	IMP
GO:0048539	bone marrow development	IMP
GO:0048872	homeostasis of number of cells	IMP
GO:0060348	bone development	IMP
GO:0060430	lung saccule development	IMP
GO:0072015	glomerular visceral epithelial cell development	IMP

GO:Cellular Component

GO ID	GO Term	Evidence
GO:0005634	nucleus	IDA
GO:0035517	PR-DUB complex	ISS
GO:0035517	PR-DUB complex	ISO
GO:0035517	PR-DUB complex	IBA
GO:0000790	nuclear chromatin	IBA

Reactome Pathway

Reactome ID	Reactome Term	Evidence
R-MMU-392499	Metabolism of proteins	IEA
R-MMU-5688426	Deubiquitination	IEA
R-MMU-5689603	UCH proteinases	IEA
R-MMU-597592	Post-translational protein modification	IEA

Functional annotations

Keywords

Keyword ID	Keyword Term
KW-0156	Chromatin regulator
KW-0479	Metal-binding
KW-0539	Nucleus
KW-0597	Phosphoprotein
KW-1185	Reference proteome
KW-0677	Repeat
KW-0678	Repressor
KW-0804	Transcription
KW-0805	Transcription regulation
KW-0832	Ubl conjugation
KW-0833	Ubl conjugation pathway
KW-0862	Zinc
KW-0863	Zinc-finger

Interpro

InterPro ID	InterPro Term
IPR026905	ASX-like_PHD
IPR024811	ASX/ASX-like
IPR028020	ASXH
IPR024815	ASXL1
IPR007759	HB1/Asxl_HTH

PROSITE

PROSITE ID	PROSITE Term
PS51916	DEUBAD
PS51913	HTH_HARE

Pfam

Pfam ID	Pfam Term
PF13919	ASXH
PF05066	HARE-HTH
PF13922	PHD_3

Gene: Asxl1

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