CMPK1 cytidine/uridine monophosphate kinase 1 [Homo sapiens (human)] - Gene

Summary

Official Symbol: CMPK1provided by HGNC
Official Full Name: cytidine/uridine monophosphate kinase 1provided by HGNC
Primary source: HGNC:HGNC:18170
See related: Ensembl:ENSG00000162368 MIM:191710; AllianceGenome:HGNC:18170
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: CK; CMK; UMK; CMPK; UMPK; UMP-CMPK
Summary: This gene encodes one of the enzymes required for cellular nucleic acid biosynthesis. This enzyme catalyzes the transfer of a phosphate group from ATP to CMP, UMP, or dCMP, to form the corresponding diphosphate nucleotide. Alternate splicing results in both coding and non-coding transcript variants. [provided by RefSeq, Feb 2012]
Expression: Ubiquitous expression in colon (RPKM 74.1), duodenum (RPKM 71.2) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 1p33

Exon count:: 7

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	1	NC_000001.11 (47333790..47378839)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	1	NC_060925.1 (47212232..47257303)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	1	NC_000001.10 (47799462..47844511)

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?

Twenty-Four Percent of Wildland Firefighters Reach Critical Levels of Serum Creatine Kinase During 80-Hour Critical Training.
Title: Twenty-Four Percent of Wildland Firefighters Reach Critical Levels of Serum Creatine Kinase During 80-Hour Critical Training.
Study found that CMPK1 is a direct target of miR-3613 which bids to its 3'UTR.
Title: MiR-3613-3p impairs IFN-induced immune response by targeting CMPK1 in chronic hepatitis B.
Nuclear CMPK1 expression is indicative of poor prognosis in the triple negative breast cancer patients.
Title: Prognostic significance of nuclear expression of UMP-CMP kinase in triple negative breast cancer patients.
TGF-b1 inhibited the expression of CMPK, which was blocked in the presence of a TGF-b type I receptor, SB431542, and was abolished by the inhibitor of miR-130b-3p, indicating that CMPK is regulated by the TGF-b signalling pathway through the upregulation of miR-130b-3p.
Title: Cytidine monophosphate kinase is inhibited by the TGF-β signalling pathway through the upregulation of miR-130b-3p in human epithelial ovarian cancer.
The role of CMP/UMP kinase (CMPK), an enzyme catalyzes cytidine diphosphate formation, in DNA repair, was investigated.
Title: The contribution of CMP kinase to the efficiency of DNA repair.
CMPK1 and RBP3 are associated with corneal curvature in Asian populations.
Title: CMPK1 and RBP3 are associated with corneal curvature in Asian populations.
In particular, polymorphisms of the CMPK1 gene seem to provide important prognostic information
Title: Effect of genetic polymorphisms on therapeutic response and clinical outcomes in pancreatic cancer patients treated with gemcitabine.
Single-nucleotide polymorphisms in CMPK1 gene is associated with treatment response in non-small cell lung cancer.
Title: Differential effect of polymorphisms of CMPK1 and RRM1 on survival in advanced non-small cell lung cancer patients treated with gemcitabine or taxane/cisplatinum.
UMP/CMP kinase (EC 2.7.4.14) is not critical for the phosphorylation of CMP, dCMP and maintenance of natural nucleotide pools in cells
Title: UMP/CMPK is not the critical enzyme in the metabolism of pyrimidine ribonucleotide and activation of deoxycytidine analogs in human RKO cells.
thymidylate synthase/ribonucleotide reductase gene silencing and deoxycytidine kinase::uridine monophosphate kinase fusion gene gene overexpression markedly improved gemcitabine's therapeutic activity
Title: Gemcitabine-based chemogene therapy for pancreatic cancer using Ad-dCK::UMK GDEPT and TS/RR siRNA strategies.

Submit: New GeneRIF Correction See all GeneRIFs (14)

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
CMPK1 and RBP3 are associated with corneal curvature in Asian populations. 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)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

SHGC-132626 (e-PCR)
- UniSTS:185374

D1S2073E (e-PCR)
- UniSTS:151678

AL033960 (e-PCR)
- UniSTS:93372

SHGC-36697 (e-PCR)
- UniSTS:64723

RH69525 (e-PCR)
- UniSTS:90847

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables ATP binding	IEA Inferred from Electronic Annotation more info
enables CMP kinase activity	IEA Inferred from Electronic Annotation more info
enables UMP kinase activity	IBA Inferred from Biological aspect of Ancestor more info
enables UMP kinase activity	IDA Inferred from Direct Assay more info	PubMed
enables cytidylate kinase activity	IBA Inferred from Biological aspect of Ancestor more info
enables dCMP kinase activity	IEA Inferred from Electronic Annotation more info
enables nucleoside diphosphate kinase activity	IDA Inferred from Direct Assay more info	PubMed
enables nucleoside monophosphate kinase activity	EXP Inferred from Experiment more info	PubMed
enables uridine kinase activity	TAS Traceable Author Statement more info	PubMed

Process	Evidence Code	Pubs
involved_in 'de novo' pyrimidine nucleobase biosynthetic process	IEA Inferred from Electronic Annotation more info
involved_in CDP biosynthetic process	IBA Inferred from Biological aspect of Ancestor more info
involved_in UDP biosynthetic process	IBA Inferred from Biological aspect of Ancestor more info
involved_in UDP biosynthetic process	IDA Inferred from Direct Assay more info	PubMed
involved_in UMP biosynthetic process	IEA Inferred from Electronic Annotation more info
involved_in nucleobase-containing small molecule interconversion	TAS Traceable Author Statement more info
involved_in nucleoside monophosphate phosphorylation	IEA Inferred from Electronic Annotation more info
involved_in phosphorylation	IEA Inferred from Electronic Annotation more info
involved_in pyrimidine ribonucleotide biosynthetic process	TAS Traceable Author Statement more info	PubMed

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
located_in extracellular exosome	HDA more info	PubMed
located_in nucleolus	IDA Inferred from Direct Assay more info
located_in nucleoplasm	IDA Inferred from Direct Assay more info
is_active_in nucleus	IBA Inferred from Biological aspect of Ancestor more info

General protein information

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Preferred Names: UMP-CMP kinase

Names: UMP/CMP kinase; cytidine monophosphate (UMP-CMP) kinase 1, cytosolic; cytidylate kinase; dCMP kinase; deoxycytidylate kinase; nucleoside-diphosphate kinase; uridine monophosphate kinase; uridine monophosphate/cytidine monophosphate kinase

NP_001129612.1

EC 2.7.4.14

EC 2.7.4.6

NP_001353064.1

EC 2.7.4.14

EC 2.7.4.6

NP_057392.1

EC 2.7.4.14

EC 2.7.4.6

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_001136140.2 → NP_001129612.1 UMP-CMP kinase isoform b

Status: REVIEWED

Description

Transcript Variant: This variant (2) lacks an in-frame exon in the coding region, compared to variant 1. The encoded isoform (2) is shorter than isoform 1.

Source sequence(s)

AF070416, AL513322, AL607122, DB494965

Consensus CDS

CCDS44135.1

UniProtKB/TrEMBL

A0A494BXC7

Related

ENSP00000398192.2, ENST00000450808.2

Conserved Domains (2) summary

cd01428
Location:37 → 167

ADK; Adenylate kinase (ADK) catalyzes the reversible phosphoryl transfer from adenosine triphosphates (ATP) to adenosine monophosphates (AMP) and to yield adenosine diphosphates (ADP). This enzyme is required for the biosynthesis of ADP and is essential for ...

TIGR01359
Location:37 → 176

UMP_CMP_kin_fam; UMP-CMP kinase family
NM_001366135.1 → NP_001353064.1 UMP-CMP kinase isoform c

Status: REVIEWED

Description

Transcript Variant: This variant (1) represents the longest transcript and encodes isoform c.

Source sequence(s)

AL513322, AL607122

Consensus CDS

CCDS90947.1

UniProtKB/Swiss-Prot

B2R6S5, B4DPU7, E9PGI8, P30085, Q53GB7, Q5SVZ0, Q96C07, Q9UBQ8, Q9UIA2

UniProtKB/TrEMBL

A0A8V8TMN5

Related

ENSP00000514114.1, ENST00000699075.1

Conserved Domains (1) summary

TIGR01359
Location:5 → 193

UMP_CMP_kin_fam; UMP-CMP kinase family
NM_016308.3 → NP_057392.1 UMP-CMP kinase isoform a

See identical proteins and their annotated locations for NP_057392.1

Status: REVIEWED

Description

Transcript Variant: This variant (1) represents the longest transcript and encodes the longer isoform (1).

Source sequence(s)

AL513322, AL607122

Consensus CDS

CCDS549.1

UniProtKB/TrEMBL

A0A8V8TMN5

Related

ENSP00000360939.5, ENST00000371873.10

Conserved Domains (2) summary

cd01428
Location:37 → 216

ADK; Adenylate kinase (ADK) catalyzes the reversible phosphoryl transfer from adenosine triphosphates (ATP) to adenosine monophosphates (AMP) and to yield adenosine diphosphates (ADP). This enzyme is required for the biosynthesis of ADP and is essential for ...

TIGR01359
Location:37 → 225

UMP_CMP_kin_fam; UMP-CMP kinase family

RNA

NR_046394.2 RNA Sequence

Status: REVIEWED

Description

Transcript Variant: This variant (3) lacks 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)

AL513322, AL607122
NR_046395.2 RNA Sequence

Status: REVIEWED

Description

Transcript Variant: This variant (4) contains an alternate 5' exon and uses an alternate splice site in an internal exon, compared to variant 1. This variant is represented as non-coding because it lacks a large portion of the coding region, found in variant 1.

Source sequence(s)

AL513322, AL607122

Related

ENST00000471289.2