CleftGeneDB-Search

Gene: GSKIP

Basic information

Tag	Content
Uniprot ID	Q9P0R6; B3KSZ0; Q9BST1; Q9NWK0;
Entrez ID	51527
Genbank protein ID	AAH04818.1; BAG52902.1; EAW81634.1; AAF36130.1; BAA91380.1;
Genbank nucleotide ID	NM_016472.4; NM_001271904.1; NM_001271906.1; XM_017021365.1; NM_001271905.1;
Ensembl protein ID	ENSP00000451188; ENSP00000450420; ENSP00000412315; ENSP00000451384;
Ensembl nucleotide ID	ENSG00000100744
Gene name	GSK3B-interacting protein
Gene symbol	GSKIP
Organism	Homo sapiens
NCBI taxa ID	9606
Cleft type
Developmental stage
Data sources	Homology search
Reference
Functional description	A-kinase anchoring protein for GSK3B and PKA that regulates or facilitates their kinase activity towards their targets (PubMed:27484798, PubMed:25920809, PubMed:16981698). The ternary complex enhances Wnt-induced signaling by facilitating the GSK3B- and PKA-induced phosphorylation of beta-catenin leading to beta-catenin degradation and stabilization respectively (PubMed:27484798, PubMed:16981698). Upon cAMP activation, the ternary complex contributes to neuroprotection against oxidative stress-induced apoptosis by facilitating the PKA-induced phosphorylation of DML1 and PKA-induced inactivation of GSK3B (PubMed:25920809). During neurite outgrowth promotes neuron proliferation; while increases beta-catenin-induced transcriptional activity through GSK3B kinase activity inhibition, reduces N-cadherin level to promote cell cycle progression (PubMed:19830702).
Sequence	METDCNPMEL SSMSGFEEGS ELNGFEGTDM KDMRLEAEAV VNDVLFAVNN MFVSKSLRCA 60 DDVAYINVET KERNRYCLEL TEAGLKVVGY AFDQVDDHLQ TPYHETVYSL LDTLSPAYRE 120 AFGNALLQRL EALKRDGQS 139

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.

Gene expression information

Gene expression in different tissues (GTEx V7)

Gene expression in different tissues (ENCODE)

Protein structural annotations

3D structure in PDB database

PDB ID
1SGO

Protein disorder information

Orthologous information

Relation	Gene symbol	Entrez ID	UniProt ID	Cleft type	Species	Evidence	Details
1:1 ortholog	GSKIP	616052	Q0P5A3		Bos taurus	Prediction	More>>
1:1 ortholog	GSKIP	611079	E2RIF8		Canis lupus familiaris	Prediction	More>>
1:1 ortholog	GSKIP	102175902	A0A452EEJ4		Capra hircus	Prediction	More>>
1:1 ortholog	GSKIP	51527	Q9P0R6		Homo sapiens	Prediction	More>>
1:1 ortholog	Gskip	66787	Q8BGR8	CPO	Mus musculus	Publication	More>>
1:1 ortholog	GSKIP	453144	H2Q8W2		Pan troglodytes	Prediction	More>>
1:1 ortholog	GSKIP	100154584	A0A481B832		Sus scrofa	Prediction	More>>
1:1 ortholog	Gskip	362778	A0A0H2UHD3		Rattus norvegicus	Prediction	More>>
1:1 ortholog	gskip		F1R0B7		Danio rerio	Prediction	More>>

Other genetic variants/mutations

ID	Variant	Type	Disease	Chromosome\Coordinate	Evidence
rs1481122907	p.Thr3Lys	missense variant	-	NC_000014.9:g.96382255C>A	gnomAD
rs1271761626	p.Thr3Ala	missense variant	-	NC_000014.9:g.96382254A>G	gnomAD
rs1190934517	p.Asn6Ser	missense variant	-	NC_000014.9:g.96382264A>G	gnomAD
rs562745853	p.Ser11Arg	missense variant	-	NC_000014.9:g.96382280C>A	1000Genomes,ExAC,TOPMed,gnomAD
rs1373390496	p.Ser12Asn	missense variant	-	NC_000014.9:g.96382282G>A	TOPMed
rs530300010	p.Ser12Gly	missense variant	-	NC_000014.9:g.96382281A>G	1000Genomes,ExAC,TOPMed,gnomAD
rs1169380126	p.Met13Val	missense variant	-	NC_000014.9:g.96382284A>G	gnomAD
NCI-TCGA novel	p.Ser14Pro	missense variant	-	NC_000014.9:g.96382287T>C	NCI-TCGA
COSM6141694	p.Ser20Leu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000014.9:g.96382306C>T	NCI-TCGA Cosmic
rs762200712	p.Gly24Ser	missense variant	-	NC_000014.9:g.96382317G>A	ExAC,TOPMed,gnomAD
rs983244395	p.Glu26Val	missense variant	-	NC_000014.9:g.96382324A>T	TOPMed
rs1187096597	p.Glu26Ter	stop gained	-	NC_000014.9:g.96382323G>T	TOPMed
rs1294989957	p.Thr28Ser	missense variant	-	NC_000014.9:g.96382329A>T	gnomAD
rs373317656	p.Asp29Tyr	missense variant	-	NC_000014.9:g.96382332G>T	ESP,ExAC,TOPMed,gnomAD
rs1229910752	p.Met30Val	missense variant	-	NC_000014.9:g.96382335A>G	gnomAD
rs1175518747	p.Lys31Thr	missense variant	-	NC_000014.9:g.96382339A>C	TOPMed
rs760855629	p.Arg34Ser	missense variant	-	NC_000014.9:g.96382349G>T	ExAC,TOPMed,gnomAD
rs762900253	p.Glu36Lys	missense variant	-	NC_000014.9:g.96382353G>A	ExAC,TOPMed,gnomAD
rs763962704	p.Ala37Gly	missense variant	-	NC_000014.9:g.96382357C>G	ExAC,gnomAD
rs1260460042	p.Glu38Gln	missense variant	-	NC_000014.9:g.96382359G>C	gnomAD
rs757002877	p.Ala39Thr	missense variant	-	NC_000014.9:g.96382362G>A	ExAC,gnomAD
rs767262215	p.Ala39Val	missense variant	-	NC_000014.9:g.96382363C>T	ExAC,gnomAD
rs1309454795	p.Val41Ile	missense variant	-	NC_000014.9:g.96382368G>A	gnomAD
rs1255762375	p.Asn42His	missense variant	-	NC_000014.9:g.96382371A>C	gnomAD
rs755542637	p.Leu45Val	missense variant	-	NC_000014.9:g.96382380C>G	ExAC,TOPMed,gnomAD
rs779558584	p.Ala47Thr	missense variant	-	NC_000014.9:g.96382386G>A	ExAC,gnomAD
rs772300147	p.Asn49Ser	missense variant	-	NC_000014.9:g.96382393A>G	ExAC,TOPMed,gnomAD
rs889035292	p.Met51Thr	missense variant	-	NC_000014.9:g.96382399T>C	TOPMed,gnomAD
rs1486992897	p.Met51Leu	missense variant	-	NC_000014.9:g.96382398A>C	gnomAD
NCI-TCGA novel	p.Val53Ile	missense variant	-	NC_000014.9:g.96382404G>A	NCI-TCGA
rs773521710	p.Ser54Leu	missense variant	-	NC_000014.9:g.96382408C>T	ExAC,TOPMed,gnomAD
rs1352086785	p.Ser54Pro	missense variant	-	NC_000014.9:g.96382407T>C	gnomAD
NCI-TCGA novel	p.Leu57ThrTyrCysLeuAlaProTrpAspTyrSer	insertion	-	NC_000014.9:g.96382418_96382419insACATACTGCTTAGCTCCATGGGATTACAGT	NCI-TCGA
rs771137320	p.Arg58Trp	missense variant	-	NC_000014.9:g.96382419C>T	ExAC,TOPMed,gnomAD
rs149577622	p.Arg58Leu	missense variant	-	NC_000014.9:g.96382420G>T	ESP,ExAC,TOPMed,gnomAD
rs149577622	p.Arg58Gln	missense variant	-	NC_000014.9:g.96382420G>A	ESP,ExAC,TOPMed,gnomAD
rs755565686	p.Ala60Val	missense variant	-	NC_000014.9:g.96382426C>T	ExAC,TOPMed,gnomAD
rs1244757719	p.Asp62His	missense variant	-	NC_000014.9:g.96382431G>C	gnomAD
rs1157217305	p.Val63Met	missense variant	-	NC_000014.9:g.96382434G>A	TOPMed
rs1253781118	p.Asn67Lys	missense variant	-	NC_000014.9:g.96382448T>G	TOPMed
rs761719148	p.Thr70Ala	missense variant	-	NC_000014.9:g.96382455A>G	ExAC,gnomAD
rs1158277308	p.Thr70Ile	missense variant	-	NC_000014.9:g.96382456C>T	gnomAD
rs767244629	p.Asn74Lys	missense variant	-	NC_000014.9:g.96382469C>G	ExAC,TOPMed,gnomAD
rs1364373990	p.Asn74Asp	missense variant	-	NC_000014.9:g.96382467A>G	gnomAD
rs750181117	p.Thr81Ser	missense variant	-	NC_000014.9:g.96382489C>G	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Glu82Asp	missense variant	-	NC_000014.9:g.96382493A>C	NCI-TCGA
rs755731284	p.Ala83Pro	missense variant	-	NC_000014.9:g.96382494G>C	ExAC,gnomAD
rs1344313578	p.Tyr90His	missense variant	-	NC_000014.9:g.96385532T>C	gnomAD
rs190255432	p.Asp93Glu	missense variant	-	NC_000014.9:g.96385543C>A	1000Genomes,ExAC,gnomAD
NCI-TCGA novel	p.Asp97Tyr	missense variant	-	NC_000014.9:g.96385553G>T	NCI-TCGA
rs1364427821	p.His98Arg	missense variant	-	NC_000014.9:g.96385557A>G	TOPMed,gnomAD
COSM1477890	p.Leu99Ile	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000014.9:g.96385559T>A	NCI-TCGA Cosmic
rs375705512	p.Thr101Ile	missense variant	-	NC_000014.9:g.96385566C>T	ESP,TOPMed,gnomAD
rs1268177362	p.Pro102Ser	missense variant	-	NC_000014.9:g.96385568C>T	gnomAD
rs1354192277	p.Pro102Leu	missense variant	-	NC_000014.9:g.96385569C>T	TOPMed
rs752203816	p.His104Arg	missense variant	-	NC_000014.9:g.96385575A>G	ExAC,gnomAD
rs1201732024	p.Thr106Arg	missense variant	-	NC_000014.9:g.96385581C>G	gnomAD
rs778275720	p.Tyr108Asn	missense variant	-	NC_000014.9:g.96385586T>A	ExAC,gnomAD
rs1405000367	p.Pro116Leu	missense variant	-	NC_000014.9:g.96385611C>T	gnomAD
rs757608565	p.Ala117Thr	missense variant	-	NC_000014.9:g.96385613G>A	ExAC,TOPMed,gnomAD
rs781445114	p.Arg119Gln	missense variant	-	NC_000014.9:g.96385620G>A	ExAC,gnomAD
rs1295946209	p.Asn124Lys	missense variant	-	NC_000014.9:g.96385636C>G	TOPMed,gnomAD
rs746062504	p.Leu127Arg	missense variant	-	NC_000014.9:g.96385644T>G	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Leu127Ile	missense variant	-	NC_000014.9:g.96385643C>A	NCI-TCGA
rs769952250	p.Gln128Arg	missense variant	-	NC_000014.9:g.96385647A>G	ExAC,gnomAD
NCI-TCGA novel	p.Gln128Ter	stop gained	-	NC_000014.9:g.96385646C>T	NCI-TCGA
rs780009662	p.Ala132Val	missense variant	-	NC_000014.9:g.96385659C>T	ExAC,gnomAD
COSM1300941	p.Leu133Phe	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000014.9:g.96385663G>C	NCI-TCGA Cosmic
rs1490502014	p.Arg135Gly	missense variant	-	NC_000014.9:g.96385667A>G	gnomAD
rs1490502014	p.Arg135Ter	stop gained	-	NC_000014.9:g.96385667A>T	gnomAD
rs749319245	p.Arg135Thr	missense variant	-	NC_000014.9:g.96385668G>C	ExAC,gnomAD
rs1240441946	p.Asp136Glu	missense variant	-	NC_000014.9:g.96385672T>G	gnomAD
rs1187323833	p.Gly137Ala	missense variant	-	NC_000014.9:g.96385674G>C	gnomAD
rs199588276	p.Gly137Arg	missense variant	-	NC_000014.9:g.96385673G>A	ESP,ExAC,TOPMed,gnomAD
rs958375813	p.Gln138Ter	stop gained	-	NC_000014.9:g.96385676C>T	gnomAD
rs773187816	p.Ser139Thr	missense variant	-	NC_000014.9:g.96385679T>A	ExAC,gnomAD

Disease or phenotype associated information

Disease ID	Disease Name	Disease Type	Source
C0023466	Leukemia, Monocytic, Chronic	disease	CTD_human
C0023470	Myeloid Leukemia	disease	CTD_human
C0027022	Myeloproliferative disease	group	CTD_human

Gene Ontology (GO)/biological pathways

GO:Molecular Function

GO ID	GO Term	Evidence
GO:0004860	protein kinase inhibitor activity	IMP
GO:0004860	protein kinase inhibitor activity	IDA
GO:0005515	protein binding	IPI
GO:0019901	protein kinase binding	IPI
GO:0034237	protein kinase A regulatory subunit binding	IPI
GO:0051018	protein kinase A binding	IPI
GO:0008013	beta-catenin binding	IDA

GO:Biological Process

GO ID	GO Term	Evidence
GO:0006469	negative regulation of protein kinase activity	IMP
GO:0008631	intrinsic apoptotic signaling pathway in response to oxidative stress	IMP
GO:0030111	regulation of Wnt signaling pathway	IMP
GO:0090263	positive regulation of canonical Wnt signaling pathway	IDA

GO:Cellular Component

GO ID	GO Term	Evidence
GO:0005634	nucleus	IDA
GO:0005737	cytoplasm	IDA

Reactome Pathway

Reactome ID	Reactome Term	Evidence

Drugs and compounds information

ID	Drug Name	Action	PubMed
C111118	2',3,3',4',5-pentachloro-4-hydroxybiphenyl	2',3,3',4',5-pentachloro-4-hydroxybiphenyl results in decreased expression of GSKIP mRNA	19114083
D000082	Acetaminophen	Acetaminophen results in increased expression of GSKIP mRNA	22230336
D001280	Atrazine	Atrazine results in decreased expression of GSKIP mRNA	22378314
C006780	bisphenol A	bisphenol A results in increased expression of GSKIP mRNA	25181051
C006780	bisphenol A	bisphenol A results in increased methylation of GSKIP gene	28505145
C074702	chromium hexavalent ion	chromium hexavalent ion affects the expression of GSKIP mRNA	28472532
C480342	clothianidin	clothianidin results in increased expression of GSKIP mRNA	29044138
D019327	Copper Sulfate	Copper Sulfate results in increased expression of GSKIP mRNA	19549813
C009160	cyclonite	cyclonite results in decreased expression of GSKIP mRNA	20965580
C000944	dicrotophos	dicrotophos results in decreased expression of GSKIP mRNA	28302478
D000431	Ethanol	Ethanol results in increased expression of GSKIP mRNA	30319688
C039281	furan	furan results in increased expression of GSKIP mRNA	26194646
D007213	Indomethacin	Indomethacin results in increased expression of GSKIP mRNA	28201806
C561695	(+)-JQ1 compound	(+)-JQ1 compound results in increased expression of GSKIP mRNA	23430699
D019344	Lactic Acid	Lactic Acid results in decreased expression of GSKIP mRNA	30851411
C025340	manganese chloride	manganese chloride results in increased expression of GSKIP mRNA	28801915
D037742	Nanotubes, Carbon	Nanotubes, Carbon analog results in increased expression of GSKIP mRNA	25620056
D037742	Nanotubes, Carbon	Nanotubes, Carbon results in increased expression of GSKIP mRNA	25620056
D011794	Quercetin	Quercetin results in increased expression of GSKIP mRNA	30152185
D012822	Silicon Dioxide	Silicon Dioxide analog results in decreased expression of GSKIP mRNA	25895662
C017947	sodium arsenite	sodium arsenite results in increased expression of GSKIP mRNA	29361514
D018038	Sodium Selenite	Sodium Selenite results in increased expression of GSKIP mRNA	18175754
D013749	Tetrachlorodibenzodioxin	Tetrachlorodibenzodioxin affects the expression of GSKIP mRNA	22298810
D013749	Tetrachlorodibenzodioxin	Tetrachlorodibenzodioxin results in decreased expression of GSKIP mRNA	21724226
C012589	trichostatin A	trichostatin A affects the expression of GSKIP mRNA	28542535
D014520	Urethane	Urethane results in increased expression of GSKIP mRNA	28818685

Functional annotations

Keywords

Keyword ID	Keyword Term
KW-0002	3D-structure
KW-0963	Cytoplasm
KW-0539	Nucleus
KW-1185	Reference proteome

Interpro

InterPro ID	InterPro Term
IPR037395	GSKIP
IPR007967	GSKIP_dom
IPR023231	GSKIP_dom_sf

PROSITE

PROSITE ID	PROSITE Term

Pfam

Pfam ID	Pfam Term
PF05303	DUF727

Gene: GSKIP

Basic information

Gene expression information

Gene expression in different tissues (GTEx V7)

Gene expression in different tissues (ENCODE)

Protein structural annotations

3D structure in PDB database

Protein disorder information

Orthologous information

Other genetic variants/mutations

Disease or phenotype associated information

Gene Ontology (GO)/biological pathways

GO:Molecular Function

GO:Biological Process

GO:Cellular Component

Reactome Pathway

Drugs and compounds information

Functional annotations

Keywords

Interpro

PROSITE

Pfam

Protein-protein interaction

Protein-miRNA interaction