UCK1 (uridine-cytidine kinase 1) - Rat Genome Database
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Gene: UCK1 (uridine-cytidine kinase 1) Homo sapiens
Analyze
Symbol: UCK1
Name: uridine-cytidine kinase 1
RGD ID: 1318012
HGNC Page HGNC
Description: Predicted to have kinase activity. Predicted to be involved in pyrimidine nucleoside salvage. Predicted to localize to cytosol.
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: cytidine monophosphokinase 1; FLJ12255; RP11-334J6.5; UCK 1; uridine monophosphokinase 1; URK1
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Genes
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl9131,523,801 - 131,531,264 (-)EnsemblGRCh38hg38GRCh38
GRCh389131,523,801 - 131,531,263 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh379134,399,188 - 134,406,650 (-)NCBIGRCh37GRCh37hg19GRCh37
GRCh379134,399,183 - 134,406,662 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 369133,389,012 - 133,396,476 (-)NCBINCBI36hg18NCBI36
Build 349131,428,744 - 131,436,209NCBI
Celera9104,939,363 - 104,946,841 (-)NCBI
Cytogenetic Map9q34.13NCBI
HuRef9103,893,800 - 103,901,279 (-)NCBIHuRef
CHM1_19134,548,581 - 134,556,053 (-)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View

Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process

Cellular Component
cytoplasm  (IBA)
cytosol  (IBA,TAS)

Molecular Function

Molecular Pathway Annotations     Click to see Annotation Detail View
References

Additional References at PubMed
PMID:195585   PMID:11306702   PMID:14702039   PMID:15164053   PMID:15489334   PMID:16169070   PMID:16344560   PMID:18080217   PMID:19883694   PMID:21873635   PMID:21988832   PMID:24192812  
PMID:26186194   PMID:26288249   PMID:26344197   PMID:26871637   PMID:27239701   PMID:27906629   PMID:28514442   PMID:29395067   PMID:31938050  


Genomics

Comparative Map Data
UCK1
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl9131,523,801 - 131,531,264 (-)EnsemblGRCh38hg38GRCh38
GRCh389131,523,801 - 131,531,263 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh379134,399,188 - 134,406,650 (-)NCBIGRCh37GRCh37hg19GRCh37
GRCh379134,399,183 - 134,406,662 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 369133,389,012 - 133,396,476 (-)NCBINCBI36hg18NCBI36
Build 349131,428,744 - 131,436,209NCBI
Celera9104,939,363 - 104,946,841 (-)NCBI
Cytogenetic Map9q34.13NCBI
HuRef9103,893,800 - 103,901,279 (-)NCBIHuRef
CHM1_19134,548,581 - 134,556,053 (-)NCBICHM1_1
Uck1
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39232,145,014 - 32,150,117 (-)NCBIGRCm39mm39
GRCm38232,255,002 - 32,260,105 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl232,255,002 - 32,260,159 (-)EnsemblGRCm38mm10GRCm38
MGSCv37232,110,522 - 32,115,625 (-)NCBIGRCm37mm9NCBIm37
MGSCv36232,077,011 - 32,082,070 (-)NCBImm8
Celera231,959,332 - 31,964,435 (-)NCBICelera
Cytogenetic Map2BNCBI
Uck1
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.2315,538,580 - 15,544,465 (-)NCBI
Rnor_6.0 Ensembl311,271,885 - 11,277,757 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_6.0311,271,874 - 11,277,757 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_5.0316,620,744 - 16,626,627 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4311,366,634 - 11,372,517 (-)NCBIRGSC3.4rn4RGSC3.4
RGSC_v3.1311,264,015 - 11,268,800 (-)NCBI
Celera310,283,446 - 10,289,273 (-)NCBICelera
Cytogenetic Map3p12NCBI
Uck1
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049555131,203,934 - 1,208,724 (-)EnsemblChiLan1.0
ChiLan1.0NW_0049555131,203,934 - 1,208,720 (-)NCBIChiLan1.0ChiLan1.0
UCK1
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.19131,285,877 - 131,293,338 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl9131,285,877 - 131,293,338 (-)Ensemblpanpan1.1panPan2
Mhudiblu_PPA_v09102,646,056 - 102,653,525 (-)NCBIMhudiblu_PPA_v0panPan3
UCK1
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1 Ensembl952,609,313 - 52,614,622 (+)EnsemblCanFam3.1canFam3CanFam3.1
CanFam3.1952,609,972 - 52,615,655 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
Uck1
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
SpeTri2.0NW_00493648718,267,878 - 18,271,406 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
UCK1
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl1271,448,364 - 271,453,816 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.11271,448,362 - 271,453,811 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.21305,456,743 - 305,462,182 (-)NCBISscrofa10.2Sscrofa10.2susScr3
UCK1
(Chlorocebus sabaeus - African green monkey)
Vervet AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1126,612,306 - 6,634,326 (+)NCBI
ChlSab1.1 Ensembl126,612,378 - 6,618,968 (+)Ensembl
Uck1
(Heterocephalus glaber - naked mole-rat)
Molerat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_0046247604,490,118 - 4,494,707 (+)NCBI

Position Markers
RH16428  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh379134,401,172 - 134,401,279UniSTSGRCh37
Build 369133,390,993 - 133,391,100RGDNCBI36
Celera9104,941,352 - 104,941,459RGD
Cytogenetic Map9q34.13UniSTS
HuRef9103,895,789 - 103,895,896UniSTS
GeneMap99-GB4 RH Map9403.9UniSTS
RH104256  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh379134,400,092 - 134,400,222UniSTSGRCh37
Build 369133,389,913 - 133,390,043RGDNCBI36
Celera9104,940,272 - 104,940,402RGD
Cytogenetic Map9q34.13UniSTS
HuRef9103,894,709 - 103,894,839UniSTS
GeneMap99-GB4 RH Map9404.0UniSTS
SHGC-132019  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh379134,399,208 - 134,399,480UniSTSGRCh37
Build 369133,389,029 - 133,389,301RGDNCBI36
Celera9104,939,388 - 104,939,660RGD
Cytogenetic Map9q34.1UniSTS
Cytogenetic Map9q34.13UniSTS
HuRef9103,893,825 - 103,894,097UniSTS
TNG Radiation Hybrid Map951304.0UniSTS
A004N19  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh379134,398,997 - 134,399,184UniSTSGRCh37
Build 369133,388,818 - 133,389,005RGDNCBI36
Celera9104,939,177 - 104,939,364RGD
Cytogenetic Map9q34.1UniSTS
Cytogenetic Map9q34.13UniSTS
HuRef9103,893,614 - 103,893,801UniSTS
GeneMap99-GB4 RH Map9404.0UniSTS
D9S2067  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh379134,398,971 - 134,399,109UniSTSGRCh37
Build 369133,388,792 - 133,388,930RGDNCBI36
Celera9104,939,151 - 104,939,289RGD
Cytogenetic Map9q34.1UniSTS
Cytogenetic Map9q34.13UniSTS
HuRef9103,893,588 - 103,893,726UniSTS
Stanford-G3 RH Map94918.0UniSTS
NCBI RH Map91213.0UniSTS
GeneMap99-G3 RH Map94816.0UniSTS
NIB247  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh379134,399,210 - 134,399,319UniSTSGRCh37
Build 369133,389,031 - 133,389,140RGDNCBI36
Celera9104,939,390 - 104,939,499RGD
Cytogenetic Map9q34.1UniSTS
Cytogenetic Map9q34.13UniSTS
HuRef9103,893,827 - 103,893,936UniSTS
Whitehead-RH Map9485.2UniSTS
A004H35  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh379134,399,206 - 134,399,327UniSTSGRCh37
Build 369133,389,027 - 133,389,148RGDNCBI36
Celera9104,939,386 - 104,939,507RGD
Cytogenetic Map9q34.1UniSTS
Cytogenetic Map9q34.13UniSTS
HuRef9103,893,823 - 103,893,944UniSTS
GeneMap99-GB4 RH Map9404.0UniSTS
D9S1959  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh379134,399,213 - 134,399,389UniSTSGRCh37
Build 369133,389,034 - 133,389,210RGDNCBI36
Celera9104,939,393 - 104,939,569RGD
Cytogenetic Map9q34.1UniSTS
Cytogenetic Map9q34.13UniSTS
HuRef9103,893,830 - 103,894,006UniSTS
Stanford-G3 RH Map94925.0UniSTS
NCBI RH Map91210.8UniSTS
GeneMap99-G3 RH Map94823.0UniSTS

miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:4690
Count of miRNA genes:924
Interacting mature miRNAs:1104
Transcripts:ENST00000372208, ENST00000372210, ENST00000372211, ENST00000372215, ENST00000459858, ENST00000482398, ENST00000484876, ENST00000491309, ENST00000494584
Prediction methods:Microtar, Miranda, Rnahybrid
Result types:miRGate_prediction

The detailed report is available here: Full Report CSV TAB Printer

miRNA Target Status data imported from miRGate (http://mirgate.bioinfo.cnio.es/).
For more information about miRGate, see PMID:25858286 or access the full paper here.


Expression


RNA-SEQ Expression
High: > 1000 TPM value   Medium: Between 11 and 1000 TPM
Low: Between 0.5 and 10 TPM   Below Cutoff: < 0.5 TPM

alimentary part of gastrointestinal system circulatory system endocrine system exocrine system hemolymphoid system hepatobiliary system integumental system musculoskeletal system nervous system renal system reproductive system respiratory system sensory system visual system adipose tissue appendage entire extraembryonic component pharyngeal arch
High
Medium 2426 2575 1719 618 1643 459 4353 2087 3694 415 1449 1611 173 1203 2786 4 1
Low 13 416 7 6 308 6 4 110 40 4 11 2 2 1 1 2 2 1
Below cutoff

Sequence

Nucleotide Sequences
RefSeq Transcripts NM_001135954 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001261450 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001261451 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001318519 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_031432 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_134666 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_134667 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_005272224 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_002956811 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_246602 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AA809511 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF125106 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF237290 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF254133 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK022317 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK057848 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK295471 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK307475 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL358781 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC015547 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC091495 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BI770572 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471090 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CR457281 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA598285 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HH961850 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KU178794 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KU178795 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KU178796 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000372208   ⟹   ENSP00000361282
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl9131,523,801 - 131,531,259 (-)Ensembl
RefSeq Acc Id: ENST00000372210   ⟹   ENSP00000361284
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl9131,523,801 - 131,531,179 (-)Ensembl
RefSeq Acc Id: ENST00000372211   ⟹   ENSP00000361285
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl9131,523,801 - 131,531,200 (-)Ensembl
RefSeq Acc Id: ENST00000372215   ⟹   ENSP00000361289
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl9131,523,801 - 131,531,263 (-)Ensembl
RefSeq Acc Id: ENST00000459858
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl9131,525,945 - 131,531,244 (-)Ensembl
RefSeq Acc Id: ENST00000482398
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl9131,528,795 - 131,529,157 (-)Ensembl
RefSeq Acc Id: ENST00000484876
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl9131,524,738 - 131,526,159 (-)Ensembl
RefSeq Acc Id: ENST00000491309   ⟹   ENSP00000432363
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl9131,523,801 - 131,531,237 (-)Ensembl
RefSeq Acc Id: ENST00000494584
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl9131,525,148 - 131,531,264 (-)Ensembl
RefSeq Acc Id: NM_001135954   ⟹   NP_001129426
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh389131,523,801 - 131,531,263 (-)NCBI
GRCh379134,399,183 - 134,406,662 (-)RGD
Celera9104,939,363 - 104,946,841 (-)RGD
HuRef9103,893,800 - 103,901,279 (-)RGD
CHM1_19134,548,581 - 134,556,053 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001261450   ⟹   NP_001248379
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh389131,523,801 - 131,531,263 (-)NCBI
GRCh379134,399,183 - 134,406,662 (-)NCBI
HuRef9103,893,800 - 103,901,279 (-)NCBI
CHM1_19134,548,581 - 134,556,053 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001261451   ⟹   NP_001248380
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh389131,523,801 - 131,531,263 (-)NCBI
GRCh379134,399,183 - 134,406,662 (-)NCBI
HuRef9103,893,800 - 103,901,279 (-)NCBI
CHM1_19134,548,581 - 134,556,053 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001318519   ⟹   NP_001305448
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh389131,523,801 - 131,531,263 (-)NCBI
CHM1_19134,548,581 - 134,556,053 (-)NCBI
Sequence:
RefSeq Acc Id: NM_031432   ⟹   NP_113620
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh389131,523,801 - 131,531,263 (-)NCBI
GRCh379134,399,183 - 134,406,662 (-)RGD
Build 369133,389,012 - 133,396,476 (-)NCBI Archive
Celera9104,939,363 - 104,946,841 (-)RGD
HuRef9103,893,800 - 103,901,279 (-)RGD
CHM1_19134,548,581 - 134,556,053 (-)NCBI
Sequence:
RefSeq Acc Id: NR_134666
RefSeq Status: REVIEWED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh389131,523,801 - 131,531,263 (-)NCBI
CHM1_19134,548,581 - 134,556,053 (-)NCBI
Sequence:
RefSeq Acc Id: NR_134667
RefSeq Status: REVIEWED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh389131,523,801 - 131,531,263 (-)NCBI
CHM1_19134,548,581 - 134,556,053 (-)NCBI
Sequence:
RefSeq Acc Id: XM_005272224   ⟹   XP_005272281
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh389131,523,801 - 131,531,197 (-)NCBI
GRCh379134,399,183 - 134,406,662 (-)NCBI
Sequence:
RefSeq Acc Id: XR_002956811
RefSeq Status:
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh389131,523,801 - 131,531,197 (-)NCBI
Sequence:
RefSeq Acc Id: XR_246602
RefSeq Status:
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh389131,525,205 - 131,531,197 (-)NCBI
GRCh379134,399,183 - 134,406,662 (-)NCBI
Sequence:
Reference Sequences
RefSeq Acc Id: NP_001129426   ⟸   NM_001135954
- Peptide Label: isoform b
- UniProtKB: Q9HA47 (UniProtKB/Swiss-Prot),   A0A024R8E7 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_113620   ⟸   NM_031432
- Peptide Label: isoform a
- UniProtKB: Q9HA47 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001248379   ⟸   NM_001261450
- Peptide Label: isoform c
- UniProtKB: Q9HA47 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001248380   ⟸   NM_001261451
- Peptide Label: isoform d
- UniProtKB: Q9HA47 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_005272281   ⟸   XM_005272224
- Peptide Label: isoform X1
- Sequence:
RefSeq Acc Id: NP_001305448   ⟸   NM_001318519
- Peptide Label: isoform e
- UniProtKB: Q9HA47 (UniProtKB/Swiss-Prot),   A0A0S2Z5Y6 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: ENSP00000361282   ⟸   ENST00000372208
RefSeq Acc Id: ENSP00000361284   ⟸   ENST00000372210
RefSeq Acc Id: ENSP00000361285   ⟸   ENST00000372211
RefSeq Acc Id: ENSP00000361289   ⟸   ENST00000372215
RefSeq Acc Id: ENSP00000432363   ⟸   ENST00000491309
Protein Domains
PRK

Promoters
RGD ID:7216439
Promoter ID:EPDNEW_H13966
Type:initiation region
Name:UCK1_1
Description:uridine-cytidine kinase 1
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh389131,531,263 - 131,531,323EPDNEW
RGD ID:6808390
Promoter ID:HG_KWN:65367
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:K562,   Lymphoblastoid
Transcripts:OTTHUMT00000054734
Position:
Human AssemblyChrPosition (strand)Source
Build 369133,391,199 - 133,391,699 (-)MPROMDB
RGD ID:6808389
Promoter ID:HG_KWN:65368
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:HeLa_S3
Transcripts:OTTHUMT00000054733
Position:
Human AssemblyChrPosition (strand)Source
Build 369133,394,936 - 133,395,436 (-)MPROMDB
RGD ID:6807531
Promoter ID:HG_KWN:65369
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   HeLa_S3,   Jurkat,   K562,   Lymphoblastoid,   NB4
Transcripts:ENST00000372210,   ENST00000372211,   ENST00000372212,   NM_001135954,   NM_031432,   OTTHUMT00000054730,   OTTHUMT00000054732,   UC004CAZ.1
Position:
Human AssemblyChrPosition (strand)Source
Build 369133,396,296 - 133,396,796 (-)MPROMDB

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3 copy number gain See cases [RCV000050348] Chr9:193412..138179445 [GRCh38]
Chr9:204193..141073897 [GRCh37]
Chr9:194193..140193718 [NCBI36]
Chr9:9p24.3-q34.3
pathogenic
GRCh38/hg38 9q33.2-34.3(chr9:121112395-138075224)x3 copy number gain See cases [RCV000051009] Chr9:121112395..138075224 [GRCh38]
Chr9:123874673..140969676 [GRCh37]
Chr9:122914494..140089497 [NCBI36]
Chr9:9q33.2-34.3
pathogenic
GRCh38/hg38 9q33.2-34.3(chr9:122792658-138124532)x3 copy number gain See cases [RCV000051040] Chr9:122792658..138124532 [GRCh38]
Chr9:125554937..141018984 [GRCh37]
Chr9:124594758..140138805 [NCBI36]
Chr9:9q33.2-34.3
pathogenic
GRCh38/hg38 9q34.11-34.13(chr9:129949815-132342490)x1 copy number loss See cases [RCV000052935] Chr9:129949815..132342490 [GRCh38]
Chr9:132712094..135217877 [GRCh37]
Chr9:131751915..134207698 [NCBI36]
Chr9:9q34.11-34.13
pathogenic
GRCh38/hg38 9q34.11-34.3(chr9:129068560-136495351)x3 copy number gain See cases [RCV000053779] Chr9:129068560..136495351 [GRCh38]
Chr9:131830839..139389803 [GRCh37]
Chr9:130870660..138509624 [NCBI36]
Chr9:9q34.11-34.3
pathogenic
GRCh38/hg38 9q34.13(chr9:131261516-131741175)x3 copy number gain See cases [RCV000053780] Chr9:131261516..131741175 [GRCh38]
Chr9:134136903..134616562 [GRCh37]
Chr9:133126724..133606383 [NCBI36]
Chr9:9q34.13
pathogenic
GRCh38/hg38 9p24.3-q34.3(chr9:193412-138114463)x3 copy number gain See cases [RCV000053746] Chr9:193412..138114463 [GRCh38]
Chr9:214367..141008915 [GRCh37]
Chr9:204367..140128736 [NCBI36]
Chr9:9p24.3-q34.3
pathogenic
GRCh38/hg38 9q34.13-34.2(chr9:131406683-133852779)x4 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053812]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053812]|See cases [RCV000053812] Chr9:131406683..133852779 [GRCh38]
Chr9:134282070..136717901 [GRCh37]
Chr9:133271891..135707722 [NCBI36]
Chr9:9q34.13-34.2
pathogenic
GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053748]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053748]|See cases [RCV000053748] Chr9:193412..138179445 [GRCh38]
Chr9:266045..141073897 [GRCh37]
Chr9:256045..140193718 [NCBI36]
Chr9:9p24.3-q34.3
pathogenic
GRCh38/hg38 9p24.3-q34.3(chr9:193412-138124532)x3 copy number gain See cases [RCV000053745] Chr9:193412..138124532 [GRCh38]
Chr9:204193..141018984 [GRCh37]
Chr9:194193..140138805 [NCBI36]
Chr9:9p24.3-q34.3
pathogenic
GRCh38/hg38 9q33.2-34.3(chr9:121586837-138179445)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053776]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053776]|See cases [RCV000053776] Chr9:121586837..138179445 [GRCh38]
Chr9:124349116..141073897 [GRCh37]
Chr9:123388937..140193718 [NCBI36]
Chr9:9q33.2-34.3
pathogenic
GRCh38/hg38 9p24.3-q34.3(chr9:204193-138179445) copy number gain See cases [RCV000133791] Chr9:204193..138179445 [GRCh38]
Chr9:204193..141073897 [GRCh37]
Chr9:194193..140193718 [NCBI36]
Chr9:9p24.3-q34.3
pathogenic
GRCh38/hg38 9q34.11-34.3(chr9:130513207-138124532)x3 copy number gain See cases [RCV000133778] Chr9:130513207..138124532 [GRCh38]
Chr9:133388594..141018984 [GRCh37]
Chr9:132378415..140138805 [NCBI36]
Chr9:9q34.11-34.3
pathogenic
GRCh38/hg38 9q34.11-34.3(chr9:129068560-138179445)x3 copy number gain See cases [RCV000134916] Chr9:129068560..138179445 [GRCh38]
Chr9:131830839..141073897 [GRCh37]
Chr9:130870660..140193718 [NCBI36]
Chr9:9q34.11-34.3
pathogenic
GRCh38/hg38 9q33.2-34.3(chr9:121073102-138179445)x3 copy number gain See cases [RCV000134920] Chr9:121073102..138179445 [GRCh38]
Chr9:123835380..141073897 [GRCh37]
Chr9:122875201..140193718 [NCBI36]
Chr9:9q33.2-34.3
pathogenic
GRCh38/hg38 9p24.3-q34.3(chr9:193412-138124524)x3 copy number gain See cases [RCV000138783] Chr9:193412..138124524 [GRCh38]
Chr9:204090..141018976 [GRCh37]
Chr9:194090..140138797 [NCBI36]
Chr9:9p24.3-q34.3
pathogenic
GRCh38/hg38 9p24.3-q34.3(chr9:193412-138159073)x3 copy number gain See cases [RCV000138962] Chr9:193412..138159073 [GRCh38]
Chr9:204104..141053525 [GRCh37]
Chr9:194104..140173346 [NCBI36]
Chr9:9p24.3-q34.3
pathogenic|conflicting data from submitters
GRCh38/hg38 9p11.2-q34.3(chr9:193412-138159073)x3 copy number gain See cases [RCV000139207] Chr9:193412..138159073 [GRCh38]
Chr9:68420641..141053525 [GRCh37]
Chr9:67910461..140173346 [NCBI36]
Chr9:9p11.2-q34.3
pathogenic
GRCh38/hg38 9p24.3-q34.3(chr9:203861-138125937)x3 copy number gain See cases [RCV000141876] Chr9:203861..138125937 [GRCh38]
Chr9:203861..141020389 [GRCh37]
Chr9:193861..140140210 [NCBI36]
Chr9:9p24.3-q34.3
pathogenic
GRCh38/hg38 9p24.3-q34.3(chr9:203862-138125937)x3 copy number gain See cases [RCV000143476] Chr9:203862..138125937 [GRCh38]
Chr9:203862..141020389 [GRCh37]
Chr9:193862..140140210 [NCBI36]
Chr9:9p24.3-q34.3
pathogenic
GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3 copy number gain See cases [RCV000148113] Chr9:193412..138179445 [GRCh38]
Chr9:204193..141073897 [GRCh37]
Chr9:194193..140193718 [NCBI36]
Chr9:9p24.3-q34.3
pathogenic
GRCh37/hg19 9q34.13(chr9:134353309-134839944)x3 copy number gain See cases [RCV000239893] Chr9:134353309..134839944 [GRCh37]
Chr9:9q34.13
uncertain significance
GRCh37/hg19 9p24.3-q34.3(chr9:163131-141122114)x3 copy number gain See cases [RCV000240081] Chr9:163131..141122114 [GRCh37]
Chr9:9p24.3-q34.3
pathogenic
GRCh37/hg19 9q34.11-34.13(chr9:131670024-134514071) copy number loss not provided [RCV000767561] Chr9:131670024..134514071 [GRCh37]
Chr9:9q34.11-34.13
likely pathogenic
GRCh37/hg19 9p24.3-q34.3(chr9:62525-141006407) copy number gain See cases [RCV000449375] Chr9:62525..141006407 [GRCh37]
Chr9:9p24.3-q34.3
pathogenic
GRCh37/hg19 9p24.3-q34.3(chr9:203861-141020389)x3 copy number gain See cases [RCV000447207] Chr9:203861..141020389 [GRCh37]
Chr9:9p24.3-q34.3
pathogenic
GRCh37/hg19 9q33.3-34.3(chr9:128652785-141044751)x3 copy number gain See cases [RCV000447080] Chr9:128652785..141044751 [GRCh37]
Chr9:9q33.3-34.3
pathogenic
GRCh37/hg19 9p24.3-q34.3(chr9:203864-141020389)x3 copy number gain See cases [RCV000448978] Chr9:203864..141020389 [GRCh37]
Chr9:9p24.3-q34.3
pathogenic
GRCh37/hg19 9q33.2-34.3(chr9:124642754-141146461)x3 copy number gain See cases [RCV000448784] Chr9:124642754..141146461 [GRCh37]
Chr9:9q33.2-34.3
pathogenic
GRCh37/hg19 9q21.11-34.3(chr9:71069743-140999928) copy number gain Global developmental delay [RCV000626548] Chr9:71069743..140999928 [GRCh37]
Chr9:9q21.11-34.3
likely pathogenic
GRCh37/hg19 9p24.3-q34.3(chr9:203862-141020389) copy number gain See cases [RCV000512392] Chr9:203862..141020389 [GRCh37]
Chr9:9p24.3-q34.3
pathogenic
GRCh37/hg19 9p24.3-q34.3(chr9:10590-141114095)x2 copy number gain not provided [RCV000748054] Chr9:10590..141114095 [GRCh37]
Chr9:9p24.3-q34.3
pathogenic
GRCh37/hg19 9p24.3-q34.3(chr9:10590-141122247)x3 copy number gain not provided [RCV000748055] Chr9:10590..141122247 [GRCh37]
Chr9:9p24.3-q34.3
pathogenic
GRCh37/hg19 9p24.3-q34.3(chr9:10590-141107672)x3 copy number gain not provided [RCV000748053] Chr9:10590..141107672 [GRCh37]
Chr9:9p24.3-q34.3
pathogenic
GRCh37/hg19 9p24.3-q34.3(chr9:46587-141066491)x3 copy number gain not provided [RCV000748063] Chr9:46587..141066491 [GRCh37]
Chr9:9p24.3-q34.3
pathogenic
NC_000009.11:g.(?_134379574)_(138678377_?)dup duplication Ehlers-Danlos syndrome, classic type [RCV000807925] Chr9:134379574..138678377 [GRCh37]
Chr9:9q34.13-34.3
uncertain significance
GRCh37/hg19 9q21.11-34.3(chr9:71416475-141020389)x3 copy number gain not provided [RCV000847808] Chr9:71416475..141020389 [GRCh37]
Chr9:9q21.11-34.3
pathogenic
GRCh37/hg19 9p24.3-q34.3(chr9:203861-141020388)x3 copy number gain not provided [RCV000845900] Chr9:203861..141020388 [GRCh37]
Chr9:9p24.3-q34.3
pathogenic
GRCh37/hg19 9q34.13(chr9:134035433-134400804)x3 copy number gain not provided [RCV001006278] Chr9:134035433..134400804 [GRCh37]
Chr9:9q34.13
uncertain significance

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:14859 AgrOrtholog
COSMIC UCK1 COSMIC
Ensembl Genes ENSG00000130717 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Protein ENSP00000361282 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000361284 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000361285 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000361289 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000432363 UniProtKB/TrEMBL
Ensembl Transcript ENST00000372208 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000372210 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000372211 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000372215 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000491309 ENTREZGENE, UniProtKB/TrEMBL
GTEx ENSG00000130717 GTEx
HGNC ID HGNC:14859 ENTREZGENE
Human Proteome Map UCK1 Human Proteome Map
InterPro P-loop_NTPase UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PRK/URK UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  UCK-1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Uridine_kinase-like UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:83549 UniProtKB/Swiss-Prot
NCBI Gene 83549 ENTREZGENE
OMIM 609328 OMIM
PANTHER PTHR10285:SF66 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam PRK UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA134861770 PharmGKB
Superfamily-SCOP SSF52540 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
TIGRFAMs udk UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A0A024R8E7 ENTREZGENE, UniProtKB/TrEMBL
  A0A0S2Z5Y6 ENTREZGENE, UniProtKB/TrEMBL
  A0A0S2Z601_HUMAN UniProtKB/TrEMBL
  G3V170_HUMAN UniProtKB/TrEMBL
  Q9HA47 ENTREZGENE, UniProtKB/Swiss-Prot
UniProt Secondary Q5JT09 UniProtKB/Swiss-Prot
  Q5JT10 UniProtKB/Swiss-Prot
  Q5JT12 UniProtKB/Swiss-Prot
  Q5JT13 UniProtKB/Swiss-Prot
  Q6IA74 UniProtKB/Swiss-Prot
  Q96BJ0 UniProtKB/Swiss-Prot