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

Gene ID: 51727, updated on 25-Nov-2021

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
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
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Genomic context

See CMPK1 in Genome Data Viewer
Location:
1p33
Exon count:
7
Annotation release Status Assembly Chr Location
109.20211119 current GRCh38.p13 (GCF_000001405.39) 1 NC_000001.11 (47333790..47378839)
105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (47799462..47844511)

Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene TAL bHLH transcription factor 1, erythroid differentiation factor Neighboring gene STIL centriolar assembly protein Neighboring gene Sharpr-MPRA regulatory region 7712 Neighboring gene long intergenic non-protein coding RNA 1389 Neighboring gene forkhead box E3

Genomic regions, transcripts, and products

Expression

  • 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

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

Associated conditions

Description Tests
CMPK1 and RBP3 are associated with corneal curvature in Asian populations.
GeneReviews: Not available

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

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

General protein information

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
NP_001353064.1
NP_057392.1

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)

  1. NM_001136140.2NP_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/Swiss-Prot
    P30085
    Related
    ENSP00000398192.2, ENST00000450808.2
    Conserved Domains (2) summary
    cd01428
    Location:37167
    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:37176
    UMP_CMP_kin_fam; UMP-CMP kinase family
  2. NM_001366135.1NP_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
    Conserved Domains (1) summary
    TIGR01359
    Location:5193
    UMP_CMP_kin_fam; UMP-CMP kinase family
  3. NM_016308.3NP_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/Swiss-Prot
    P30085
    UniProtKB/TrEMBL
    B2R6S5
    Related
    ENSP00000360939.5, ENST00000371873.10
    Conserved Domains (2) summary
    cd01428
    Location:37216
    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:37225
    UMP_CMP_kin_fam; UMP-CMP kinase family

RNA

  1. 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
  2. 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

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20211119

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000001.11 Reference GRCh38.p13 Primary Assembly

    Range
    47333790..47378839
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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