CXXC1 - CXXC finger protein 1 Gene

Homo sapiens

Also known as CFP1; CGBP; SPP1; PCCX1; PHF18; hCGBP; ZCGPC1; HsT2645; 2410002I16Rik; 5830420C16Rik

Gene ID: 30827 | Gene type: protein coding

About CXXC1

Cytogenetic location: 18q21.1 Genomic coordinates (GRCh38): 18:50,282,347-50,287,692 (from NCBI)

This gene has 18 transcripts (splice variants), 189 orthologues and 1 paralogue. Ubiquitous expression in bone marrow (RPKM 16.4), lymph node (RPKM 14.4) and 25 other tissues.

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 vertebrate development. [provided by RefSeq, Sep 2015]

CXXC1 Products(2)

mRNA	Protein	Name
NM_001101654.2	NP_001095124.1	CXXC-type zinc finger protein 1 isoform 1
NM_014593.4	NP_055408.2	CXXC-type zinc finger protein 1 isoform 2

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	Reference	Source
enables protein binding	IPI IPI: Inferred from physical interaction	17998332	GOA
enables unmethylated CpG binding	IDA IDA: Inferred from direct assay	10688657	GOA

Biological Process GO Annotation	Evidence	Reference	Source
involved in positive regulation of DNA-templated transcription	IDA IDA: Inferred from direct assay	10688657	GOA
involved in regulation of DNA-templated transcription	IDA IDA: Inferred from direct assay	10688657	GOA

Cellular Component GO Annotation	Evidence	Reference	Source
part of Set1C/COMPASS complex	IDA IDA: Inferred from direct assay	17998332	GOA
part of Set1C/COMPASS complex	IPI IPI: Inferred from physical interaction	23508102	GOA
part of histone methyltransferase complex	IDA IDA: Inferred from direct assay	17355966	GOA
located in nucleus	IDA IDA: Inferred from direct assay	10688657	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

CXXC1 Protein Structure

PHD

zf-CXXC

zf-CpG_bind_C

0
200
400
600
656 a.a.

Protein Preferred Names

Protein Names

CXXC-type zinc finger protein 1

CXXC finger 1 (PHD domain)

Related Diseases

Diseases

Alias

Gait Apraxia

Male Infertility

Infertility, Male	Infertility Male
Male Sterility	Absolute Infertility

Microcephaly

Microencephaly	Microcephalus
Microcephalic	Nanocephaly
Congenital Microcephaly	Brain Hypoplasia
Brain Nondevelopment	Cephalic Hypoplasia
Undeveloped Cerebrum	Undeveloped Brain
Micrencephalon	Micrencephaly

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS03413	CXXC1 Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Felis catus	CXXC1	VGNC	VGNC:61304
Macaca mulatta	CXXC1	VGNC	VGNC:71517
Mus musculus	CXXC1	MGD	MGI:1921572
Rattus norvegicus	CXXC1	RGD	RGD:1310755
Bos taurus	CXXC1	VGNC	VGNC:27859

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