CXXC1 (CXXC finger protein 1)

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
miRNA miRNA information provided by mirtarbase database.
27
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
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
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
26
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
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
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
MIM HGNC e!Ensembl
609150 24343 ENSG00000154832
Protein Protein information from UniProt database.
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
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
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
  Reactome
    XBP1(S) activates chaperone genes
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
2
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
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)
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.
Phenotype Name Clinical Significance Source Evidence Score
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 (845)
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
ABLEPHARON-MACROSTOMIA SYNDROME Ablepharon macrostomia syndrome BEFREE 30165389
★★★★★
★☆☆☆☆
Found in Text Mining only
Acoustic Neuroma Acoustic Neuroma BEFREE 23354516
★★★★★
★☆☆☆☆
Found in Text Mining only
Acute Coronary Syndrome Coronary Syndrome BEFREE 22711477, 30914768, 31530226
★★★★★
★☆☆☆☆
Found in Text Mining only
Acute encephalopathy Encephalopathy BEFREE 31787380
★★★★★
★☆☆☆☆
Found in Text Mining only
Acute Kidney Insufficiency Acute Kidney Insufficiency CTD_human_DG 11274264, 20623750
★★★★★
★☆☆☆☆
Found in Text Mining only
Acute lymphocytic leukemia Lymphocytic Leukemia BEFREE 17312329, 23589674, 28326824, 29641359
★★★★★
★☆☆☆☆
Found in Text Mining only
Acute monocytic leukemia Monocytic Leukemia BEFREE 19805619, 25591760, 29340063
★★★★★
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma Adenocarcinoma BEFREE 11520606, 15136764, 16424021, 17493236, 25915587, 26700622, 9311587
★★★★★
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma Adenocarcinoma LHGDN 17493236
★★★★★
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma Adenocarcinoma CTD_human_DG 20495387, 21552421
★★★★★
★☆☆☆☆
Found in Text Mining only