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  2. CXXC1 - CXXC finger protein 1 Gene

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

CXXC1 Protein Structure

PHD

PHD: PHD-finger (28 - 76)

zf-CXXC

zf-CXXC: CXXC zinc finger domain (163 - 208)

zf-CpG_bind_C

zf-CpG_bind_C: CpG binding protein zinc finger C terminal domain (400 - 636)

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  • 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

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