Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	30827
Gene name	CXXC finger protein 1
Gene symbol	CXXC1
Synonyms (NCBI Gene)	2410002I16Rik5830420C16RikCFP1CGBPHsT2645PCCX1PHF18SPP1ZCGPC1hCGBP
Chromosome	18
Chromosome location	18q21.1
Summary	This gene encodes a protein that functions as a transcriptional activator that binds specifically to non-methylated CpG motifs through its CXXC domain. The protein is a component of the SETD1 complex, regulates gene expression and is essential for vertebr

Show/Hide all (27)

miRTarBase ID	miRNA	Experiments	Reference
MIRT022879	hsa-miR-124-3p	Microarray	18668037
MIRT042903	hsa-miR-324-3p	CLASH	23622248
MIRT2208102	hsa-miR-361-3p	CLIP-seq
MIRT2208103	hsa-miR-4270	CLIP-seq
MIRT2208104	hsa-miR-4441	CLIP-seq
MIRT2208105	hsa-miR-602	CLIP-seq
MIRT2511663	hsa-miR-1	CLIP-seq
MIRT2511664	hsa-miR-1299	CLIP-seq
MIRT2511665	hsa-miR-1909	CLIP-seq
MIRT2511666	hsa-miR-206	CLIP-seq
MIRT2208102	hsa-miR-361-3p	CLIP-seq
MIRT2511667	hsa-miR-3673	CLIP-seq
MIRT2511668	hsa-miR-3936	CLIP-seq
MIRT2208105	hsa-miR-602	CLIP-seq
MIRT2511669	hsa-miR-613	CLIP-seq
MIRT2511670	hsa-miR-615-5p	CLIP-seq
MIRT2511671	hsa-miR-875-3p	CLIP-seq
MIRT2511663	hsa-miR-1	CLIP-seq
MIRT2511664	hsa-miR-1299	CLIP-seq
MIRT2511665	hsa-miR-1909	CLIP-seq
MIRT2511666	hsa-miR-206	CLIP-seq
MIRT2208102	hsa-miR-361-3p	CLIP-seq
MIRT2511667	hsa-miR-3673	CLIP-seq
MIRT2511668	hsa-miR-3936	CLIP-seq
MIRT2208105	hsa-miR-602	CLIP-seq
MIRT2511669	hsa-miR-613	CLIP-seq
MIRT2511671	hsa-miR-875-3p	CLIP-seq

Show/Hide all (26)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000987	Function	Cis-regulatory region sequence-specific DNA binding	IEA
GO:0003677	Function	DNA binding	IEA
GO:0005515	Function	Protein binding	IPI	17998332, 21653829, 23870121, 25416956, 26496610, 32296183, 33961781
GO:0005634	Component	Nucleus	IDA	10688657
GO:0005634	Component	Nucleus	IEA
GO:0005654	Component	Nucleoplasm	IDA
GO:0005654	Component	Nucleoplasm	TAS
GO:0005829	Component	Cytosol	IDA
GO:0006325	Process	Chromatin organization	IEA
GO:0006355	Process	Regulation of DNA-templated transcription	IDA	10688657
GO:0008270	Function	Zinc ion binding	IEA
GO:0016363	Component	Nuclear matrix	IEA
GO:0016607	Component	Nuclear speck	IDA
GO:0016607	Component	Nuclear speck	IEA
GO:0031981	Component	Nuclear lumen	IEA
GO:0035097	Component	Histone methyltransferase complex	IDA	17355966
GO:0045322	Function	Unmethylated CpG binding	IDA	10688657
GO:0045322	Function	Unmethylated CpG binding	IEA
GO:0045893	Process	Positive regulation of DNA-templated transcription	IBA
GO:0045893	Process	Positive regulation of DNA-templated transcription	IDA	10688657
GO:0046872	Function	Metal ion binding	IEA
GO:0048188	Component	Set1C/COMPASS complex	IBA
GO:0048188	Component	Set1C/COMPASS complex	IDA	17998332, 18838538
GO:0048188	Component	Set1C/COMPASS complex	IEA
GO:0048188	Component	Set1C/COMPASS complex	IPI	23508102
GO:0140002	Function	Histone H3K4me3 reader activity	IEA

MIM	HGNC	e!Ensembl
609150	24343	ENSG00000154832

Q9P0U4

Protein name

CXXC-type zinc finger protein 1 (CpG-binding protein) (PHD finger and CXXC domain-containing protein 1)

Protein function

Transcriptional activator that exhibits a unique DNA binding specificity for CpG unmethylated motifs with a preference for CpGG.

PDB

3QMB , 3QMC , 3QMD , 3QMG , 3QMH , 3QMI

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF00628	PHD	28 → 76	PHD-finger	Domain
PF02008	zf-CXXC	160 → 208	CXXC zinc finger domain	Domain
PF12269	zf-CpG_bind_C	400 → 636	CpG binding protein zinc finger C terminal domain	Domain

Tissue specificity

TISSUE SPECIFICITY: Ubiquitous.

Sequence

MEGDGSDPEPPDAGEDSKSENGENAPIYCICRKPDINCFMIGCDNCNEWFHGDCIRITEK
MAKAIREWYCRECREKDPKLEIRYRHKKSRERDGNERDSSEPRDEGGGRKRPVPDPDLQR
RAGSGTGVGAMLARGSASPHKSSPQPLVATPSQHHQQQQQQIKRSARMCGECEACRRTED
CGHCDFCRDMKKFGGPNKIRQKCRLRQCQLRARESYKYFPSSLSPVTPSESLPRPRRPLP
TQQQPQPSQKLGRIREDEGAVASSTVKEPPEATATPEPLSDEDLPLDPDLYQDFCAGAFD
DHGLPWMSDTEESPFLDPALRKRAVKVKHVKRREKKSEKKKEERYKRHRQKQKHKDKWKH
PERADAKDPASLPQCLGPGCVRPAQPSSKYCSDDCGMKLAANRIYEILPQRIQQWQQSPC
IAEEHGKKLLERIRREQQSARTRLQEMERRFHELEAIILRAKQQAVREDEESNEGDSDDT
DLQIFCVSCGHPINPRVALRHMERCYAKYESQTSFGSMYPTRIEGATRLFCDVYNPQSKT
YCKRLQVLCPEHSRDPKVPADEVCGCPLVRDVFELTGDFCRLPKRQCNRHYCWEKLRRAE
VDLERVRVWYKLDELFEQERNVRTAMTNRAGLLALMLHQTIQHDPLTTDLRSSADR

Sequence length

656

Interactions

View interactions

	Reactome
			XBP1(S) activates chaperone genes

Evidence Score: ★☆☆☆☆ Gene-disease association found in Text Mining only ★★☆☆☆ Found in Text Mining and Unknown/Other Associations ★★★☆☆ Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆ ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★ ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Show/Hide Unknown Diseases (2)

Phenotype Name	Clinical Significance	Source	Evidence Score
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
CHRONIC LYMPHOCYTIC LEUKEMIA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DEFICIENCY ANEMIA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (5)

Disease Name	Relationship Type	References	Evidence Score
Associations from Text MiningDisease associations identified through Pubtator
Adenocarcinoma of Lung	Associate	37735441	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinogenesis	Associate	37735441	★★★★★ ★☆☆☆☆ Found in Text Mining only
Neoplasms	Associate	37735441	★★★★★ ★☆☆☆☆ Found in Text Mining only
Osteoporosis	Associate	26719974	★★★★★ ★☆☆☆☆ Found in Text Mining only
Ovarian Neoplasms	Associate	35864225	★★★★★ ★☆☆☆☆ Found in Text Mining only

CXXC1 (CXXC finger protein 1)