UCK2 uridine-cytidine kinase 2 [Homo sapiens (human)] - Gene

Summary

Official Symbol: UCK2provided by HGNC
Official Full Name: uridine-cytidine kinase 2provided by HGNC
Primary source: HGNC:HGNC:12562
See related: Ensembl:ENSG00000143179 MIM:609329; AllianceGenome:HGNC:12562
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: UK; UMPK; TSA903
Summary: This gene encodes a pyrimidine ribonucleoside kinase. The encoded protein (EC 2.7.1.48) catalyzes phosphorylation of uridine and cytidine to uridine monophosphate (UMP) and cytidine monophosphate (CMP), respectively.[provided by RefSeq, Oct 2010]
Expression: Ubiquitous expression in colon (RPKM 6.8), small intestine (RPKM 6.1) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 1q24.1

Exon count:: 8

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	1	NC_000001.11 (165827614..165911618)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	1	NC_060925.1 (165173785..165257744)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	1	NC_000001.10 (165796851..165880855)

Chromosome 1 - NC_000001.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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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?

Cytotoxic Flavokawain B Inhibits the Growth and Metastasis of Hepatocellular Carcinoma through UCK2 Modulation of the STAT3/Hif-1alpha/VEGF Signalling Pathway.
Title: Cytotoxic Flavokawain B Inhibits the Growth and Metastasis of Hepatocellular Carcinoma through UCK2 Modulation of the STAT3/Hif-1α/VEGF Signalling Pathway.
Targeting uridine-cytidine kinase 2 induced cell cycle arrest through dual mechanism and could improve the immune response of hepatocellular carcinoma.
Title: Targeting uridine-cytidine kinase 2 induced cell cycle arrest through dual mechanism and could improve the immune response of hepatocellular carcinoma.
survival analysis showed that only high methylation of cg0927774 was associated with better OS and RFS of HCC patients. Based on the findings above, we infer that UCK2 upregulation might be a valuable prognostic marker in hepatocellular carcinoma. The methylation of status cg0927774 might play a critical role in its expression
Title: UCK2 upregulation might serve as an indicator of unfavorable prognosis of hepatocellular carcinoma.
Lung cancer patients with high UCK2 expression had poorer first progression survival and overall survival than patients with low UCK2 expression. Cytology experiments show that knockdown of UCK2 could suppress the proliferation and migration of lung cancer cells. Study indicated that UCK2 might be a potential early diagnostic and prognostic biomarker for lung cancer.
Title: Uridine-cytidine kinase 2 (UCK2): A potential diagnostic and prognostic biomarker for lung cancer.
High UCK2 expression is associated with hepatocellular carcinoma aggressiveness.
Title: Uridine-cytidine kinase 2 upregulation predicts poor prognosis of hepatocellular carcinoma and is associated with cancer aggressiveness.
Knockdown of endogenous UCK2 as well as overexpression of UCK1 resulted in decreased metabolism of uridine and cytidine and protected neuroblastoma cells from 3-deazauridine-induced toxicity. Subcellular localization studies showed that UCK1-GFP and UCK2-GFP were localized in the cell nucleus and cytosol, respectively.
Title: The pivotal role of uridine-cytidine kinases in pyrimidine metabolism and activation of cytotoxic nucleoside analogues in neuroblastoma.
accumulation of RX-3117 nucleotides correlated with UCK2 expression.
Title: The Cytidine Analog Fluorocyclopentenylcytosine (RX-3117) Is Activated by Uridine-Cytidine Kinase 2.
UCK1 and 2 are both expressed in several neuroblastoma cell lines, including four MYCN single copy cell lines and five MYCN amplified cell lines
Title: Purification, activity, and expression levels of two uridine-cytidine kinase isoforms in neuroblastoma cell lines.
Testicular germ cell tumor susceptibility associated with the UCK2 locus on chromosome 1q23.
Title: Testicular germ cell tumor susceptibility associated with the UCK2 locus on chromosome 1q23.
The mechanism of phosphate transfer in UCK2 is shown to be concerted, and is accompanied by concerted proton transfer from the 5'-hydroxyl to a conserved active site aspartic acid that serves as a catalytic base
Title: Quantum mechanics/molecular mechanics investigation of the mechanism of phosphate transfer in human uridine-cytidine kinase 2.

Submit: New GeneRIF Correction See all GeneRIFs (15)

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

EBI GWAS Catalog

Description
A genome-wide association study of testicular germ cell tumor. EBI GWAS Catalog EBI GWAS CatalogPubMed
Identification of nine new susceptibility loci for testicular cancer, including variants near DAZL and PRDM14. EBI GWAS Catalog EBI GWAS CatalogPubMed
Meta-analysis identifies four new loci associated with testicular germ cell tumor. EBI GWAS Catalog EBI GWAS CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

HIV-1 interactions

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Protein interactions

Protein	Gene	Interaction	Pubs
nucleocapsid	gag	HIV-1 NC upregulates uridine-cytidine kinase 2 in HEK 293T cells	PubMed

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Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

G19886 (e-PCR)
- UniSTS:40974

A002B18 (e-PCR)
- UniSTS:40975

AL033853 (e-PCR)
- UniSTS:93729

AL009583 (e-PCR)
- UniSTS:4905

AL009830 (e-PCR)
- UniSTS:76089

G15718 (e-PCR)
- UniSTS:65620

RH64600 (e-PCR)
- UniSTS:72824

RH79046 (e-PCR)
- UniSTS:33434

SHGC-35183 (e-PCR)
- UniSTS:56221

D1S1625 (e-PCR)
- UniSTS:416

RH80936 (e-PCR)
- UniSTS:85482

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables ATP binding	IEA Inferred from Electronic Annotation more info
enables cytidine kinase activity	IDA Inferred from Direct Assay more info	PubMed
enables identical protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables uridine kinase activity	IDA Inferred from Direct Assay more info	PubMed

Process	Evidence Code	Pubs
involved_in CMP biosynthetic process	IEA Inferred from Electronic Annotation more info
involved_in CTP salvage	IDA Inferred from Direct Assay more info	PubMed
involved_in CTP salvage	IEA Inferred from Electronic Annotation more info
involved_in UMP salvage	IDA Inferred from Direct Assay more info	PubMed
involved_in UMP salvage	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
is_active_in cytoplasm	IBA Inferred from Biological aspect of Ancestor more info
located_in cytosol	TAS Traceable Author Statement more info

General protein information

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Preferred Names: uridine-cytidine kinase 2

Names: cytidine monophosphokinase 2; testis-specific protein TSA903; uridine kinase; uridine monophosphate kinase; uridine monophosphokinase 2

NP_001350497.1

EC 2.7.1.48

NP_036606.2

EC 2.7.1.48

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.

mRNA and Protein(s)

NM_001363568.2 → NP_001350497.1 uridine-cytidine kinase 2 isoform 2

Status: REVIEWED

Source sequence(s)

AL358115, AL451074

Consensus CDS

CCDS86027.1

UniProtKB/TrEMBL

A0A2R8Y653

Related

ENSP00000494961.1, ENST00000642653.1

Conserved Domains (1) summary

cd02023
Location:13 → 207

UMPK; Uridine monophosphate kinase (UMPK, EC 2.7.1.48), also known as uridine kinase or uridine-cytidine kinase (UCK), catalyzes the reversible phosphoryl transfer from ATP to uridine or cytidine to yield UMP or CMP. In the primidine nucleotide-salvage pathway, ...
NM_012474.5 → NP_036606.2 uridine-cytidine kinase 2 isoform 1

See identical proteins and their annotated locations for NP_036606.2

Status: REVIEWED

Source sequence(s)

AL358115, BC002906, BM714864, DR762696

Consensus CDS

CCDS1252.1

UniProtKB/Swiss-Prot

Q5VV91, Q7KZV3, Q92528, Q96KG5, Q9BU42, Q9BZX2

Related

ENSP00000356853.4, ENST00000367879.9

Conserved Domains (1) summary

cd02023
Location:22 → 228

UMPK; Uridine monophosphate kinase (UMPK, EC 2.7.1.48), also known as uridine kinase or uridine-cytidine kinase (UCK), catalyzes the reversible phosphoryl transfer from ATP to uridine or cytidine to yield UMP or CMP. In the primidine nucleotide-salvage pathway, ...