UCK1 uridine-cytidine kinase 1 [Homo sapiens (human)] - Gene

Summary

Official Symbol: UCK1provided by HGNC
Official Full Name: uridine-cytidine kinase 1provided by HGNC
Primary source: HGNC:HGNC:14859
See related: Ensembl:ENSG00000130717 MIM:609328; AllianceGenome:HGNC:14859
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: URK1
Summary: This gene encodes a uridine-cytidine kinase that catalyzes the phosphorylation of uridine and cytidine to uridine monophosphate (UMP) and cytidine monophosphate (CMP) but not the phosphorylation of deoxyribonucleosides or purine ribonucleosides. This enzyme can also phosphorylate uridine and cytidine analogs and uses both ATP and GTP as a phosphate donor. Alternative splicing results in multiple splice variants encoding distinct isoforms. [provided by RefSeq, May 2012]
Expression: Ubiquitous expression in kidney (RPKM 13.1), ovary (RPKM 12.4) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 9q34.13

Exon count:: 8

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	9	NC_000009.12 (131523801..131531263, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	9	NC_060933.1 (143736763..143744224, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	9	NC_000009.11 (134399188..134406650, complement)

Chromosome 9 - NC_000009.12 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 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?

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.
Results from a study on gene expression variability markers in early-stage human embryos shows that UCK1 is a putative expression variability marker for the 3-day, 8-cell embryo stage.
Title: Variability of Gene Expression Identifies Transcriptional Regulators of Early Human Embryonic Development.
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.
ribavirin is a potential substrate of UCK-1, and RMP formed could be chemically coupled to AsOR to form a conjugate for liver specific targeting.
Title: Human uridine-cytidine kinase phosphorylation of ribavirin: a convenient method for activation of ribavirin for conjugation to proteins.

Submit: New GeneRIF Correction

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

RH104256 (e-PCR)
- UniSTS:98581

RH16428 (e-PCR)
- UniSTS:4174

D9S1959 (e-PCR)
- UniSTS:70990

SHGC-132019 (e-PCR)
- UniSTS:170605

NIB247 (e-PCR)
- UniSTS:63615

A004N19 (e-PCR)
- UniSTS:27282

A004H35 (e-PCR)
- UniSTS:63708

D9S2067 (e-PCR)
- UniSTS:43485

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 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
involved_in phosphorylation	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 1

Names: cytidine monophosphokinase 1; uridine monophosphokinase 1

NP_001129426.1

EC 2.7.1.48

NP_001248379.1

EC 2.7.1.48

NP_001248380.1

EC 2.7.1.48

NP_001305448.1

EC 2.7.1.48

NP_113620.1

EC 2.7.1.48

XP_054219900.1

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_001135954.3 → NP_001129426.1 uridine-cytidine kinase 1 isoform b

See identical proteins and their annotated locations for NP_001129426.1

Status: REVIEWED

Description

Transcript Variant: This variant (2) lacks an exon in the 3' coding region which results in a frameshift and an early stop codon, compared to variant 1. This variant encodes isoform b which has a shorter and distinct C-terminus, compared to isoform a.

Source sequence(s)

AL358781

Consensus CDS

CCDS48046.1

UniProtKB/TrEMBL

A0A024R8E7

Related

ENSP00000361282.3, ENST00000372208.7

Conserved Domains (2) summary

COG0572
Location:22 → 169

Udk; Uridine kinase [Nucleotide transport and metabolism]

cd02023
Location:25 → 169

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_001261450.3 → NP_001248379.1 uridine-cytidine kinase 1 isoform c

See identical proteins and their annotated locations for NP_001248379.1

Status: REVIEWED

Description

Transcript Variant: This variant (3) uses an alternate splice site in the 5' coding region, compared to variant 1, that results in a protein (isoform c) with a shorter N-terminus, compared to isoform c.

Source sequence(s)

AL358781

Consensus CDS

CCDS59151.1

UniProtKB/TrEMBL

A0A0S2Z601

Related

ENSP00000361284.3, ENST00000372210.7

Conserved Domains (1) summary

cd02023
Location:28 → 221

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_001261451.3 → NP_001248380.1 uridine-cytidine kinase 1 isoform d

Status: REVIEWED

Description

Transcript Variant: This variant (4) has multiple differences in the 5' coding region, compared to variant 1, that result in a protein (isoform d) with a longer N-terminus, compared to isoform a.

Source sequence(s)

AL358781

Consensus CDS

CCDS59152.1

UniProtKB/TrEMBL

A0A0S2Z601

Related

ENSP00000361285.3, ENST00000372211.7

Conserved Domains (2) summary

COG0572
Location:42 → 237

Udk; Uridine kinase [Nucleotide transport and metabolism]

cd02023
Location:42 → 235

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_001318519.2 → NP_001305448.1 uridine-cytidine kinase 1 isoform e

Status: REVIEWED

Description

Transcript Variant: This variant (5) uses an alternate in-frame splice site in an internal exon, compared to variant 1. It encodes isoform e which is shorter than isoform a.

Source sequence(s)

AL358781

UniProtKB/TrEMBL

A0A0S2Z5Y6

Conserved Domains (2) summary

COG0572
Location:22 → 209

Udk; Uridine kinase [Nucleotide transport and metabolism]

cd02023
Location:25 → 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_031432.5 → NP_113620.1 uridine-cytidine kinase 1 isoform a

See identical proteins and their annotated locations for NP_113620.1

Status: REVIEWED

Description

Transcript Variant: This variant (1) represents the predominant transcript and encodes the isoform a.

Source sequence(s)

AL358781

Consensus CDS

CCDS6944.1

UniProtKB/Swiss-Prot

Q5JT09, Q5JT10, Q5JT12, Q5JT13, Q6IA74, Q96BJ0, Q9HA47

UniProtKB/TrEMBL

A0A0S2Z601

Related

ENSP00000361289.4, ENST00000372215.5

Conserved Domains (1) summary

cd02023
Location:25 → 230

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, ...

RNA

NR_134666.2 RNA Sequence

Status: REVIEWED

Description

Transcript Variant: This variant (6) contains an alternate internal exon and uses an alternate splice site in an internal exon, compared to variant 1. This variant is represented as non-coding because the use of the 5'-most supported translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).

Source sequence(s)

AL358781

Related

ENST00000491309.5
NR_134667.2 RNA Sequence

Status: REVIEWED

Description

Transcript Variant: This variant (7) uses an alternate splice site in an internal exon, compared to variant 1. This variant is represented as non-coding because the use of the 5'-most supported translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).

Source sequence(s)

AL358781