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Category Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21

GIFtS
-

CXXC1 Gene

protein-coding GIFtS: 56
GCID: GC18M047808

CXXC finger protein 1

(Previous name: CXXC finger 1 (PHD domain) )

Explore 9 diseases affiliated with
CXXC1 via

MalaCards

our new
Human Malady Compendium

(According to ¹HGNC, ²Entrez Gene,
³UniProtKB/Swiss-Prot, ⁴UniProtKB/TrEMBL, ⁵OMIM, ⁶GeneLoc, ⁷Ensembl, ⁸DME, ⁹miRBase, and/or ¹⁰fRNAdb)
About This Section

Aliases
CXXC Finger Protein 1¹ ²		HCGBP¹
CFP1¹ ² ³		CXXC-Type Zinc Finger Protein 1² ³
CGBP¹ ² ³		PHD Finger And CXXC Domain-Containing Protein 1² ³
PCCX1¹ ² ³		2410002I16Rik²
PHF18¹ ² ³		5830420C16Rik²
HsT2645¹ ²		CpG Binding Protein²
SPP1¹ ²		CpG-Binding Protein²
ZCGPC1¹ ²		DNA-Binding Protein With PHD Finger And CXXC Domain²
CXXC Finger 1 (PHD Domain)¹ ²		Zinc Finger, CpG Binding-Type Containing 1²

External Ids:	HGNC: 24343¹	Entrez Gene: 30827²	Ensembl: ENSG00000154832⁷	OMIM: 609150⁵	UniProtKB: Q9P0U4³

Export aliases for CXXC1 gene to outside databases

Previous GC identifers: GC18M046061 GC18M046062 GC18M044663

(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary for CXXC1:

Proteins that contain a CXXC motif within their DNA-binding domain, such as CXXC1, recognize CpG sequences and regulate

gene expression (Carlone and Skalnik, 2001 (PubMed 11604496)).(supplied by OMIM, Mar 2008)

UniProtKB/Swiss-Prot: CXXC1_HUMAN, Q9P0U4

Function: Transcriptional activator that exhibits a unique DNA binding specificity for CpG unmethylated motifs with a

preference for CpGG

Gene Wiki entry for CXXC1

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section

RefSeq DNA sequence:

NC_000018.9 NC_018929.1 NT_010966.14

Regulatory elements:

SABiosciences Regulatory transcription factor binding sites in the CXXC1 gene promoter:
STAT1 p53 STAT1alpha
Other transcription factors

Browse SwitchGear Promoter luciferase reporter plasmids

Search SABiosciences Chromatin IP Primers for CXXC1

Epigenetics:

QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat CXXC1

Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 18q12 Ensembl cytogenetic band: 18q21.1 HGNC cytogenetic band: 18q12

CXXC1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
CXXC1 gene location

GeneLoc information about chromosome 18 GeneLoc Exon Structure

GeneLoc location for GC18M047808: view genomic region (about GC identifiers)

Start:	47,808,713 bp from pter	End:	47,814,692 bp from pter
Size:	5,980 bases	Orientation:	minus strand

(According to ¹UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to ²PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section

UniProtKB/Swiss-Prot: CXXC1_HUMAN, Q9P0U4 (See protein sequence)

Recommended Name: CpG-binding protein

Size: 656 amino acids; 75712 Da

Subunit: Component of the SET1 complex, at least composed of the catalytic subunit (SETD1A or SETD1B), WDR5, WDR82,

RBBP5, ASH2L/ASH2, CXXC1/CFP1 HCFC1 and DPY30. Interacts with SETD1A

Subcellular location: Nucleus speckle. Note=Associated with euchromatin. During mitosis, excluded from condensed

chromosomes

6 PDB 3D structures from and Proteopedia for CXXC1:

3QMB (3D)

3QMC (3D)

3QMD (3D)

3QMG (3D)

3QMH (3D)

3QMI (3D)

Secondary accessions: B2RC03 Q8N2W4 Q96BC8 Q9P2V7

Alternative splicing: 2 isoforms: Q9P0U4-1 Q9P0U4-2

Explore the universe of human proteins at neXtProt for CXXC1: NX_Q9P0U4

Post-translational modifications:

May be regulated by proteolysis¹

View modification sites using PhosphoSitePlus²

View neXtProt modification sites for NX_Q9P0U4

CXXC1 Protein expression data from MOPED and PaxDb: About this image

REFSEQ proteins (2 alternative transcripts):

NP_001095124.1 NP_055408.2

ENSEMBL proteins:

ENSP00000390475 ENSP00000285106 ENSP00000467634 ENSP00000465849 ENSP00000468038

ENSP00000465284

Reactome Protein details: Q9P0U4
Human Recombinant Protein Products:

	Browse Purified and Recombinant Proteins at EMD Millipore
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	GenScript Custom Purified and Recombinant Proteins Services for CXXC1
	Novus Biologicals CXXC1 Lysate
	Browse Sino Biological Recombinant Proteins
	Browse ProSpec Recombinant Proteins
	Uscn Proteins for CXXC1

Gene Ontology (GO): 5/6 cellular component terms (GO ID links to tree view) (see all 6): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005634	nucleus	IDA	10688657
GO:0005654	nucleoplasm	TAS	--
GO:0016363	nuclear matrix	IEA	--
GO:0016607	nuclear speck	IDA	--
GO:0035097	histone methyltransferase complex	IDA	17355966

CXXC1 for ontologies About GeneDecksing

CXXC1 Antibody Products:

	EMD Millipore Mono- and Polyclonal Antibodies for the study of CXXC1
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	GenScript Custom Superior Antibodies Services for CXXC1
	Novus Biologicals CXXC1 Antibodies
	Search for Antibodies for CXXC1 at Abcam
	Uscn Antibodies for CXXC1
	ThermoFisher Antibodies for CXXC1

Assay Products for CXXC1:

	Browse Kits and Assays available from EMD Millipore
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	Browse R&D Systems for biochemical assays
	GenScript Custom Assay Services for CXXC1
	Browse Enzo Life Sciences for kits & assays
	Uscn ELISAs and CLIAs for CXXC1

(According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
About This Section

CXXC1 for domains About GeneDecksing

5/7 InterPro domains/families (see all 7):

IPR001965 Znf_PHD

IPR013083 Znf_RING/FYVE/PHD

IPR002857 Znf_CXXC

IPR022056 CpG-bd_C

IPR019786 Zinc_finger_PHD-type_CS

Graphical View of Domain Structure for InterPro Entry Q9P0U4

ProtoNet protein and cluster: Q9P0U4

2 Blocks protein families:

IPB001965 Zn-finger-like

IPB002857 Zn-finger

UniProtKB/Swiss-Prot: CXXC1_HUMAN, Q9P0U4

Domain: The acidic domain carries the potential to activate transcription

Similarity: Contains 1 CXXC-type zinc finger

Similarity: Contains 1 PHD-type zinc finger

(According to ¹UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or ²DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
bound targets from SABiosciences, miRNA Gene Targets from miRTarBase shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
About This Section

Function Summary:

UniProtKB/Swiss-Prot: CXXC1_HUMAN, Q9P0U4

Function: Transcriptional activator that exhibits a unique DNA binding specificity for CpG unmethylated motifs with a

preference for CpGG

miRNA Products:		miRTarBase miRNAs that target CXXC1: hsa-mir-299-5p (MIRT004565)

		OriGene 3'-UTR Clone (see all 2): CXXC1 Browse MicroRNA Expression Plasmids
		QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat CXXC1
		6 QIAGEN miScript miRNA Assays for microRNAs that regulate CXXC1:
		hsa-miR-495 hsa-miR-3673 hsa-miR-7-1* hsa-miR-7-2* hsa-miR-590-3p hsa-miR-4282
		SwitchGear 3'UTR luciferase reporter plasmid: CXXC1 3' UTR sequence

Inhib. RNA Products:		Browse for Gene Knock-down Tools from EMD Millipore
		OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for CXXC1 (see all 7) OriGene shRNA RFP: CXXC1 OriGene siRNA: CXXC1
		QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat CXXC1

Gene Editing
Products:

DNA2.0 Custom Protein Engineering Service for CXXC1

Clone Products:		Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore
		OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for CXXC1 (see all 4) OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for CXXC1 (see all 3) OriGene custom cloning services � gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
		GenScript: all cDNA clones in your preferred vector (see all 2): CXXC1 (NM_001101654)
		Browse Sino Biological Human cDNA Clones
		DNA2.0 Custom Codon Optimized Gene Synthesis Service for CXXC1
		Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat CXXC1

Cell Line Products:		GenScript Custom overexpressing Cell Line Services for CXXC1
		Search LifeMap BioReagents cell lines for CXXC1

In Situ Assay
Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for CXXC1

Gene Ontology (GO): 4 molecular function terms (GO ID links to tree view): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005515	protein binding	IPI	17998332
GO:0008270	zinc ion binding	IEA	--
GO:0042800	contributes to histone methyltransferase activity (H3-K4 specific)	IDA	17355966
GO:0045322	unmethylated CpG binding	IDA	10688657

CXXC1 for ontologies           About GeneDecksing

Animal Models:
     Mouse knock-out Cxxc1^tm1Skk for CXXC1
     2 MGI mutant phenotypes (inferred from 1 allele) (MGI details for Cxxc1):

embryogenesis

mortality/aging

CXXC1 for phenotypes About GeneDecksing

(Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to ¹UniProtKB, ²MINT, ³I2D, and/or ⁴STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene).
About This Section

Unified GeneCards pathways About this table

See pathways by source

Super-pathway

contained gene-specific pathways

Activation of Chaperone Genes by XBP1(S)

	Activation of Chaperone Genes by XBP1(S)	1.00			Unfolded Protein Response	0.71
	Activation of Chaperones by IRE1alpha	0.94

Expression of CXXC1

Expression of CXXC1

1.00

Asparagine N-linked glycosylation

Metabolism of proteins

0.15

Pathway sources
See GeneCards unified pathways
Show all pathways

5 Reactome Pathways for CXXC1

	Activation of Chaperone Genes by XBP1(S)
	Metabolism of proteins
	Activation of Chaperones by IRE1alpha
	Expression of CXXC1
	Unfolded Protein Response

CXXC1 for pathways About GeneDecksing

Interactions:

SABiosciences Gene Network Central^TM Interacting Genes and Proteins Network for CXXC1

STRING Interaction Network Preview (showing 5 interactants - click image to see 23)

5/46 Interacting proteins for CXXC1 (Q9P0U4³ ENSP00000390475⁴) via UniProtKB, MINT, STRING, and/or I2D (see all 46)

Interactant		Interaction Details
GeneCard	External ID(s)	Interaction Details
HIST2H4A	P62805³, ENSP00000358162⁴	I2D: score=1 STRING: ENSP00000358162
HIST1H4A	P62805³	I2D: score=1
HIST1H4B	P62805³	I2D: score=1
HIST1H4C	P62805³	I2D: score=1
HIST1H4D	P62805³	I2D: score=1

About this table

Gene Ontology (GO): 5/6 biological process terms (GO ID links to tree view) (see all 6): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0006351	transcription, DNA-dependent	IEA	--
GO:0006355	regulation of transcription, DNA-dependent	IDA	10688657
GO:0006987	activation of signaling protein activity involved in unfolded protein response	TAS	--
GO:0030968	endoplasmic reticulum unfolded protein response	TAS	--
GO:0045893	positive regulation of transcription, DNA-dependent	IDA	10688657

CXXC1 for ontologies About GeneDecksing

(Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
About This Section

CXXC1 for compounds About GeneDecksing

Browse Small Molecules at EMD Millipore

Browse drugs & compounds from Enzo Life Sciences

Browse Tocris compounds for CXXC1
1 Novoseek chemical compound relationship for CXXC1 gene About this table

Compound	-log (P-Val)	Hits	PubMed IDs for Articles with Shared Sentences (# sentences)
cytosine	48.8	1	16253997 (1)

Search CenterWatch for drugs/clinical trials and news about CXXC1

(Secondary structures according to fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 235 Homo sapiens; Mar 10 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
RNAi Products from EMD Millipore,
siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
About This Section

REFSEQ mRNAs for CXXC1 gene (2 alternative transcripts):

NM_001101654.1 NM_014593.3

Unigene Cluster for CXXC1:

CXXC finger protein 1

Hs.180933 [show with all ESTs]

Unigene Representative Sequence: NM_001101654

17 Ensembl transcripts including schematic representations, and UCSC links where relevant:

ENST00000412036(uc002ler.4 uc002leq.4 uc010doy.3) ENST00000285106(uc002lep.4)

ENST00000589940 ENST00000590901 ENST00000587342 ENST00000587170 ENST00000586144

ENST00000586568 ENST00000586502 ENST00000590234 ENST00000591190 ENST00000591474

ENST00000592078 ENST00000589548 ENST00000586837 ENST00000586365 ENST00000587396

miRNA Products:		OriGene 3'-UTR Clone (see all 2): CXXC1 Browse OriGene MicroRNA Expression Plasmids
		QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat CXXC1
		6 QIAGEN miScript miRNA Assays for microRNAs that regulate CXXC1:
		hsa-miR-495 hsa-miR-3673 hsa-miR-7-1* hsa-miR-7-2* hsa-miR-590-3p hsa-miR-4282
		SwitchGear 3'UTR luciferase reporter plasmid: CXXC1 3' UTR sequence

Inhib. RNA Products:		Browse for Gene Knock-down Tools from EMD Millipore
		OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for CXXC1 (see all 7) OriGene shRNA RFP: CXXC1 OriGene siRNA: CXXC1
		QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat CXXC1

Clone Products:		OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for CXXC1 (see all 4) OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for CXXC1 (see all 3) OriGene custom cloning services � gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
		GenScript: all cDNA clones in your preferred vector (see all 2): CXXC1 (NM_001101654)
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		QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat CXXC1
		QIAGEN QuantiFast Probe-based Assays in human, mouse, rat CXXC1

Additional cDNA sequence:

AB031069.1 AF149758.1 AK294645.1 AK314886.1 AL136862.1 BC002504.2 BC009188.2 BC014940.2

BC015733.1 BC029922.1 BX647189.1

10 DOTS entries:

DT.451915 DT.100788557 DT.95160890 DT.100788556 DT.95160891 DT.92440142 DT.100654108 DT.95160879

DT.441093 DT.92440140

24/247 AceView cDNA sequences (see all 247):

BU846496 AA569384 BI767555 CD723125 BE563006 CF141129 AI131133 AL136862

AA236925 AI339596 CA487361 BI918104 AW402704 AA825495 AI365458 AA412234

BM703125 BM824876 AA338532 AA769524 AA644225 AI676109 BM476063 AI040474

GeneLoc Exon Structure

5/13 Alternative Splicing Database (ASD) splice patterns (SP) for CXXC1 (see all 13) About this scheme

ExUns:	1a	·	1b	·	1c	·	1d	^	2a	·	2b	^	3a	·	3b	^	4	^	5a	·	5b	^	6	^	7a	·	7b	^	8	^	9a	·	9b	^	10a	·	10b	^	11	^	12a	·	12b	^	13a	·	13b	·	13c	^	14	^
SP1:									-		-		-																								-												-
SP2:									-		-		-																																				-
SP3:									-				-
SP4:													-
SP5:									-		-		-

ExUns:	15a	·	15b	·	15c	·	15d	·	15e	^	16	^	17a	·	17b	·	17c
SP1:	-		-				-		-
SP2:	-		-				-		-
SP3:
SP4:
SP5:

ECgene alternative splicing isoforms for CXXC1

(RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
About This Section

CXXC1 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: TTCAGTGCCT

About this image
See CXXC1 Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for CXXC1

SOURCE GeneReport for Unigene cluster: Hs.180933

UniProtKB/Swiss-Prot: CXXC1_HUMAN, Q9P0U4

Tissue specificity: Ubiquitous

SABiosciences Expression via Pathway-Focused PCR Arrays including CXXC1:

Parkinson's Disease in human mouse rat

Epigenetic Chromatin Modification Enzymes in human mouse rat

Polycomb & Trithorax Complexes in human mouse rat

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		QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat CXXC1
		QIAGEN QuantiFast Probe-based Assays in human, mouse, rat CXXC1

In Situ
Assay Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for CXXC1

(Orthologs according to ^1,2HomoloGene (²older version, for species not in ¹newer version), ³euGenes, ⁴SGD , ⁵MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or ⁶Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
About This Section

This gene was present in the common ancestor of animals.

Orthologs for CXXC1 gene from 6/23 species (see all 23) About this table

Organism	Taxonomic classification	Gene	Description	Human Similarity	Orthology Type	Details
mouse (Mus musculus)	Mammalia	Cxxc1^{1 , 5}	CXXC finger 1 (PHD domain)^{1, 5}	89.58(n)¹ 96.8(a)¹		18 (50.70 cM)⁵ 74322¹ NM_028868.3¹ NP_083144.1¹ 74216212⁵
lizard (Anolis carolinensis)	Reptilia	CXXC1⁶	--	74(a)	1 ↔ 1	2(69146186-69172992)
African clawed frog (Xenopus laevis)	Amphibia	Xl.15518²	Xenopus laevis transcribed sequence with moderate similarity to protein refNP_055408.1 (H.sapiens) CpG binding protein; DNA-binding protein with PHD finger and CXXC domain [Homo sapiens] less	80.9(n)		48046101
zebrafish (Danio rerio)	Actinopterygii	zgc55527²	hypothetical protein MGC55527	78.96(n)		393304 BC052918.1
fruit fly (Drosophila melanogaster)	Insecta	CG17446¹	CG17446	50.61(n) 43.88(a)		31880 NM_132328.2 NP_572556.1
worm (Caenorhabditis elegans)	Secernentea	F52B11.1⁶	Protein F52B11.1, isoform b	20(a)	1 ↔ 1	IV(14077416-14083534)

ENSEMBL Gene Tree for CXXC1 (if available)
TreeFam Gene Tree for CXXC1 (if available)

(Paralogs according to ¹HomoloGene,
²Ensembl, and ³SIMAP, Pseudogenes according to ⁴Pseudogene.org Build 68)
About This Section

Paralogs for CXXC1 gene

MBD1²

2 SIMAP similar genes for CXXC1 using alignment to 5 protein entries: CXXC1_HUMAN (see all proteins):

FBXL19 PHF8

CXXC1 for paralogs About GeneDecksing

1 Pseudogenes.org Pseudogene for CXXC1
PGOHUM00000241737

(SNPs/Variants according to the ¹NCBI SNP Database, ²Ensembl, ³PupaSUITE, UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
About This Section

SNP ID	Valid	Clinical significance	Chr 18 pos	Sequence	#	AA Chg	Type	More	#	Allele freq	Pop	Total sample	More
Genomic Data					Transcription Related Data				Allele Frequencies
				--	--	--		--	--
rs200467893^1,2		--	47810197(+)	`GGAATA/GGAAGG`	2	--	int¹		0	--	--	--	--
rs149380758^1,2	C,	--	47810247(+)	`TGCTGC/TGCCCC`	2	--	int¹		0	--	--	--	--
rs200057339^1,2		--	47810248(+)	`GCTGCG/TCCCCT`	2	--	int¹		0	--	--	--	--
rs3819217^1,2	C,F,A,H,	--	47810251(-)	`AGCAGG/CGGCGC`	2	--	int¹		13		NS EA NA CSA WA EU	2089
rs7228084^1,2	C,F,A,H,	--	47810351(+)	`AGGCGG/AGTGCG`	4	/T	syn¹ ese³		22		NA NS EA WA CSA EU	6550
rs146287219^1,2	C,F,	--	47810387(+)	`CGTTCG/AAGCAG`	4	/L	syn¹		1		NA	4492
rs201144899^1,2		--	47810479(+)	`GCAGGA/GAAGGT`	2	--	int¹		0	--	--	--	--
rs190911438^1,2	C,	--	47810499(+)	`CAGAAA/TGAGTG`	2	--	int¹		0	--	--	--	--
rs200106709^1,2		--	47810510(+)	`AGGTGA/TTCAGT`	2	--	int¹		0	--	--	--	--
rs182681150^1,2	C,	--	47810511(+)	`GGTGAC/TCAGTA`	2	--	int¹		0	--	--	--	--

HapMap Linkage Disequilibrium report for CXXC1 (47808713 - 47814692 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV) variations for CXXC1: --

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(in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
About This Section

CXXC1 for disorders           About GeneDecksing

OMIM gene information: 609150    OMIM disorders: --

9 diseases for CXXC1:    About MalaCards

klatskin's tumor intellectual disability chronic lymphocytic leukemia lymphocytic leukemia

parkinson's disease colon cancer leukemia lung cancer

ataxia

2 diseases from the University of Copenhagen DISEASES database for CXXC1:

Rett syndrome Klatskin's tumor

Export disorders for CXXC1 gene to outside databases

(in PubMed. Associations of this gene to articles via ¹Entrez Gene, ²UniProtKB/Swiss-Prot, ³HGNC, ⁴GAD, ⁵PharmGKB, ⁶HMDB, ⁷DrugBank, ⁸UniProtKB/TrEMBL, ⁹ Novoseek, and/or ¹⁰fRNAdb)
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PubMed articles for CXXC1 gene, integrated from 9 sources (see all 41):
(articles sorted by number of sources associating them with CXXC1)

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Cloning of a mammalian transcriptional activator that binds unmethylated CpG motifs and shares a CXXC domain with DNA methyltransferase, human trithorax, and methyl-CpG binding domain protein 1. (PubMed id 10688657)^{1, 2, 3, 9} Voo K.S.... Skalnik D.G. (2000)
PCCX1, a novel DNA-binding protein with PHD finger and CXXC domain, is regulated by proteolysis. (PubMed id 10799292)^{1, 2, 3, 9} Fujino T.... Takano T. (2000)
CpG-binding protein is a nuclear matrix- and euchromatin-associated protein localized to nuclear speckles containing human trithorax. Identification of nuclear matrix targeting signals. (PubMed id 12200428)^{1, 2, 9} Lee J.-H. and Skalnik D.G. (2002)
CpG-binding protein (CXXC finger protein 1) is a component of the mammalian Set1 histone H3-Lys4 methyltransferase complex, the analogue of the yeast Set1/COMPASS complex. (PubMed id 16253997)^{1, 2, 9} Lee J.-H. and Skalnik D.G. (2005)
The structural basis for selective binding of non-methylated CpG islands by the CFP1 CXXC domain. (PubMed id 21407193)^{1, 2} Xu C.... Min J. (2011)
Wdr82 is a C-terminal domain-binding protein that recruits the Setd1A Histone H3-Lys4 methyltransferase complex to transcription start sites of transcribed human genes. (PubMed id 17998332)^{1, 2} Lee J.H. and Skalnik D.G. (2008)
Molecular regulation of H3K4 trimethylation by Wdr82, a component of human Set1/COMPASS. (PubMed id 18838538)^{1, 2} Wu M....Shilatifard A. (2008)
Identification and characterization of the human Set1B histone H3- Lys4 methyltransferase complex. (PubMed id 17355966)^{1, 2} Lee J.-H.... Skalnik D.G. (2007)
The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)^{1, 2} Gerhard D.S....Malek J. (2004)
Towards a catalog of human genes and proteins: sequencing and analysis of 500 novel complete protein coding human cDNAs. (PubMed id 11230166)^{1, 2} Wiemann S.... Poustka A. (2001)

(in PubMed, OMIM, and NCBI Bookshelf)
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		AND	OR
Aliases
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(According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
About This Section

Entrez Gene: 30827	HGNC: 24343	AceView: CXXC1	Ensembl:ENSG00000154832	euGenes: HUgn30827
ECgene: CXXC1	H-InvDB: CXXC1

(According to HUGE)
About This Section

(According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
About This Section

Name	Description
PharmGKB entry for CXXC1	Pharmacogenomics, SNPs, Pathways

Intellectual Property for CXXC1 gene
(Patent information from GeneIP, Licensable technologies from WIS Yeda, Salk, Tufts, IP news from LifeMap Sciences, Inc.)

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Patent Information for CXXC1 gene:
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GeneCards and IP:
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