CDA cytidine deaminase [Homo sapiens (human)] - Gene

Summary

Official Symbol: CDAprovided by HGNC
Official Full Name: cytidine deaminaseprovided by HGNC
Primary source: HGNC:HGNC:1712
See related: Ensembl:ENSG00000158825 MIM:123920; AllianceGenome:HGNC:1712
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: CDD
Summary: This gene encodes an enzyme involved in pyrimidine salvaging. The encoded protein forms a homotetramer that catalyzes the irreversible hydrolytic deamination of cytidine and deoxycytidine to uridine and deoxyuridine, respectively. It is one of several deaminases responsible for maintaining the cellular pyrimidine pool. Mutations in this gene are associated with decreased sensitivity to the cytosine nucleoside analogue cytosine arabinoside used in the treatment of certain childhood leukemias. [provided by RefSeq, Jul 2008]
Expression: Biased expression in bone marrow (RPKM 57.6), esophagus (RPKM 22.6) and 8 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 1p36.12

Exon count:: 4

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	1	NC_000001.11 (20589097..20618903)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	1	NC_060925.1 (20414048..20443922)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	1	NC_000001.10 (20915590..20945396)

Chromosome 1 - NC_000001.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Cytidine Deaminase Resolves Replicative Stress and Protects Pancreatic Cancer from DNA-Targeting Drugs.
Title: Cytidine Deaminase Resolves Replicative Stress and Protects Pancreatic Cancer from DNA-Targeting Drugs.
Upregulation of cytidine deaminase in NAT1 knockout breast cancer cells.
Title: Upregulation of cytidine deaminase in NAT1 knockout breast cancer cells.
Seven-membered ring nucleobases as inhibitors of human cytidine deaminase and APOBEC3A.
Title: Seven-membered ring nucleobases as inhibitors of human cytidine deaminase and APOBEC3A.
A decrease in NAMPT activity impairs basal PARP-1 activity in cytidine deaminase deficient-cells, independently of NAD(.)
Title: A decrease in NAMPT activity impairs basal PARP-1 activity in cytidine deaminase deficient-cells, independently of NAD().
MUC1 oncoprotein mitigates ER stress via CDA-mediated reprogramming of pyrimidine metabolism.
Title: MUC1 oncoprotein mitigates ER stress via CDA-mediated reprogramming of pyrimidine metabolism.
Results of gemcitabine-induced neutropenia using a competing risk model in a prospective randomized clinical study has proposed a potentially novel mechanism of the protective effect of the CDA rs2072671 variant.
Title: An initial genetic analysis of gemcitabine-induced high-grade neutropenia in pancreatic cancer patients in CALGB 80303 (Alliance).
data indicate that dominant negative effect of JP41 mutation on class-switch recombination (CSR) is likely due to the depletion of the CSR-specific RNA-binding proteins from WT activation-induced cytidine deaminase
Title: Depletion of recombination-specific cofactors by the C-terminal mutant of the activation-induced cytidine deaminase causes the dominant negative effect on class switch recombination.
SNPs in CDA and CES2 were associated with benefit from the addition of capecitabine to chemotherapy in metastatic breast cancer patients
Title: Single-nucleotide polymorphisms in the genes of CES2, CDA and enzymatic activity of CDA for prediction of the efficacy of capecitabine-containing chemotherapy in patients with metastatic breast cancer.
The observed incomplete sister chromatid disjunction may be due to the accumulation of unreplicated DNA during mitosis in CDA-deficient cells, as reflected in the changes in centromeric DNA structure associated with the decrease in basal PARP-1 activity.
Title: Cytidine deaminase deficiency impairs sister chromatid disjunction by decreasing PARP-1 activity.
Intracerebral microdialysis revealed that clonal NSC line to stably express cytosine deaminase (CD-NSCs) produced 5-FU locally in the brain in a 5-FC dose-dependent manner. Collectively, our results from this first-in-human study demonstrate initial safety and proof of concept regarding the ability of NSCs to target brain tumors and locally produce chemotherapy.
Title: Neural Stem Cell-Based Anticancer Gene Therapy: A First-in-Human Study in Recurrent High-Grade Glioma Patients.

Submit: New GeneRIF Correction See all GeneRIFs (69)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

GDB:435475 (e-PCR)
- UniSTS:157231

AL009683 (e-PCR)
- UniSTS:69451

D13S1652 (e-PCR)
- UniSTS:20354

SHGC-74413 (e-PCR)
- UniSTS:74177

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables cytidine deaminase activity	IBA Inferred from Biological aspect of Ancestor more info
enables cytidine deaminase activity	IDA Inferred from Direct Assay more info	PubMed
enables identical protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables nucleoside binding	IDA Inferred from Direct Assay more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein homodimerization activity	IDA Inferred from Direct Assay more info	PubMed
enables zinc ion binding	IBA Inferred from Biological aspect of Ancestor more info
enables zinc ion binding	IDA Inferred from Direct Assay more info	PubMed

Process	Evidence Code	Pubs
involved_in UMP salvage	IEA Inferred from Electronic Annotation more info
involved_in cell surface receptor signaling pathway	NAS Non-traceable Author Statement more info	PubMed
involved_in cellular response to external biotic stimulus	IEA Inferred from Electronic Annotation more info
involved_in cytidine deamination	IBA Inferred from Biological aspect of Ancestor more info
involved_in cytidine deamination	IDA Inferred from Direct Assay more info	PubMed
involved_in cytosine metabolic process	TAS Traceable Author Statement more info	PubMed
involved_in negative regulation of cell growth	IDA Inferred from Direct Assay more info	PubMed
involved_in negative regulation of nucleotide metabolic process	IDA Inferred from Direct Assay more info	PubMed
involved_in pyrimidine-containing compound salvage	NAS Non-traceable Author Statement more info	PubMed
involved_in response to cycloheximide	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
is_active_in cytosol	IBA Inferred from Biological aspect of Ancestor more info
located_in cytosol	IDA Inferred from Direct Assay more info	PubMed
located_in cytosol	NAS Non-traceable Author Statement more info	PubMed
located_in cytosol	TAS Traceable Author Statement more info
located_in extracellular region	TAS Traceable Author Statement more info
located_in ficolin-1-rich granule lumen	TAS Traceable Author Statement more info
located_in secretory granule lumen	TAS Traceable Author Statement more info
located_in tertiary granule lumen	TAS Traceable Author Statement more info

General protein information

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Preferred Names: cytidine deaminase

Names: cytidine aminohydrolase; cytosine nucleoside deaminase; small cytidine deaminase

NP_001776.1

EC 3.5.4.5

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.