AK5 (adenylate kinase 5) - Rat Genome Database

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Gene: AK5 (adenylate kinase 5) Homo sapiens
Analyze
Symbol: AK5
Name: adenylate kinase 5
RGD ID: 1353587
HGNC Page HGNC
Description: Exhibits nucleoside diphosphate kinase activity. Involved in nucleoside diphosphate phosphorylation and nucleoside triphosphate biosynthetic process. Localizes to centriolar satellite and cytosol.
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: adenylate kinase 6; adenylate kinase isoenzyme 5; AK 5; AK6; ATP-AMP transphosphorylase 5; MGC33326
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 Ensembl177,282,019 - 77,559,966 (+)EnsemblGRCh38hg38GRCh38
GRCh38177,281,908 - 77,559,966 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh37177,747,704 - 78,025,651 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36177,520,330 - 77,798,242 (+)NCBINCBI36hg18NCBI36
Build 34177,459,762 - 77,737,673NCBI
Celera175,987,128 - 76,265,178 (+)NCBI
Cytogenetic Map1p31.1NCBI
HuRef175,878,838 - 76,157,458 (+)NCBIHuRef
CHM1_1177,863,034 - 78,141,541 (+)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

Cellular Component
centriolar satellite  (IDA)
cytoplasm  (IBA)
cytosol  (IBA,IDA,TAS)

Molecular Function

Molecular Pathway Annotations     Click to see Annotation Detail View
References

Additional References at PubMed
PMID:10215863   PMID:12477932   PMID:14702039   PMID:15489334   PMID:16169070   PMID:18029348   PMID:18239623   PMID:19647735   PMID:20379614   PMID:21873635   PMID:23416111   PMID:23898208  
PMID:27288770   PMID:31799658  


Genomics

Comparative Map Data
AK5
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl177,282,019 - 77,559,966 (+)EnsemblGRCh38hg38GRCh38
GRCh38177,281,908 - 77,559,966 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh37177,747,704 - 78,025,651 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36177,520,330 - 77,798,242 (+)NCBINCBI36hg18NCBI36
Build 34177,459,762 - 77,737,673NCBI
Celera175,987,128 - 76,265,178 (+)NCBI
Cytogenetic Map1p31.1NCBI
HuRef175,878,838 - 76,157,458 (+)NCBIHuRef
CHM1_1177,863,034 - 78,141,541 (+)NCBICHM1_1
Ak5
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm393152,168,452 - 152,373,997 (-)NCBIGRCm39mm39
GRCm39 Ensembl3152,168,452 - 152,373,997 (-)Ensembl
GRCm383152,462,815 - 152,668,406 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl3152,462,815 - 152,668,360 (-)EnsemblGRCm38mm10GRCm38
MGSCv373152,125,779 - 152,331,104 (-)NCBIGRCm37mm9NCBIm37
MGSCv363152,400,201 - 152,605,526 (-)NCBImm8
Celera3158,931,196 - 159,122,453 (-)NCBICelera
Cytogenetic Map3H3NCBI
Ak5
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.22241,397,297 - 241,581,483 (-)NCBI
Rnor_6.0 Ensembl2257,671,772 - 257,864,385 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_6.02257,671,772 - 257,864,385 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_5.02276,349,770 - 276,531,733 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
Celera2233,329,800 - 233,512,494 (-)NCBICelera
Cytogenetic Map2q45NCBI
Ak5
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495542315,587,233 - 15,796,314 (-)EnsemblChiLan1.0
ChiLan1.0NW_00495542315,587,233 - 15,796,314 (-)NCBIChiLan1.0ChiLan1.0
AK5
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.1178,584,653 - 78,863,844 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl178,584,653 - 78,863,844 (+)Ensemblpanpan1.1panPan2
Mhudiblu_PPA_v0176,499,046 - 76,778,856 (+)NCBIMhudiblu_PPA_v0panPan3
AK5
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1669,282,997 - 69,520,903 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl669,284,288 - 69,521,020 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha671,941,051 - 72,178,506 (-)NCBI
ROS_Cfam_1.0669,869,373 - 70,108,061 (-)NCBI
UMICH_Zoey_3.1669,374,102 - 69,611,148 (-)NCBI
UNSW_CanFamBas_1.0669,320,227 - 69,557,015 (-)NCBI
UU_Cfam_GSD_1.0669,806,208 - 70,043,686 (-)NCBI
Ak5
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440505888,672,098 - 88,909,204 (+)NCBI
SpeTri2.0NW_0049365714,182,450 - 4,418,384 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
AK5
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl6135,745,886 - 136,020,542 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.16135,745,879 - 136,020,585 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.26125,949,135 - 126,223,268 (-)NCBISscrofa10.2Sscrofa10.2susScr3
AK5
(Chlorocebus sabaeus - African green monkey)
Vervet AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.12055,617,768 - 55,901,695 (-)NCBI
ChlSab1.1 Ensembl2055,619,046 - 55,901,639 (-)Ensembl
Ak5
(Heterocephalus glaber - naked mole-rat)
Molerat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_00462474219,630,058 - 19,840,904 (-)NCBI

Position Markers
D1S499  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37177,789,935 - 77,790,133UniSTSGRCh37
GRCh37177,789,927 - 77,790,058UniSTSGRCh37
Build 36177,562,515 - 77,562,646RGDNCBI36
Celera176,029,501 - 76,029,694UniSTS
Celera176,029,493 - 76,029,619RGD
Cytogenetic Map1p31UniSTS
HuRef175,921,095 - 75,921,221UniSTS
HuRef175,921,103 - 75,921,296UniSTS
Marshfield Genetic Map1104.79UniSTS
Marshfield Genetic Map1104.79RGD
Genethon Genetic Map1107.2UniSTS
Stanford-G3 RH Map13809.0UniSTS
Whitehead-YAC Contig Map1 UniSTS
NCBI RH Map1518.0UniSTS
GeneMap99-G3 RH Map13765.0UniSTS
D1S1862E  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37178,001,542 - 78,001,679UniSTSGRCh37
Build 36177,774,130 - 77,774,267RGDNCBI36
Celera176,241,068 - 76,241,205RGD
Cytogenetic Map1p31UniSTS
HuRef176,133,434 - 76,133,571UniSTS
GeneMap99-GB4 RH Map1208.98UniSTS
AL009966  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37177,859,245 - 77,859,395UniSTSGRCh37
Build 36177,631,833 - 77,631,983RGDNCBI36
Celera176,099,104 - 76,099,254RGD
Cytogenetic Map1p31UniSTS
HuRef175,990,598 - 75,990,748UniSTS
RH103803  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37178,025,711 - 78,025,957UniSTSGRCh37
Build 36177,798,299 - 77,798,545RGDNCBI36
Celera176,265,235 - 76,265,481RGD
Cytogenetic Map1p31UniSTS
HuRef176,157,515 - 76,157,761UniSTS
GeneMap99-GB4 RH Map1192.27UniSTS
G60475  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37177,789,794 - 77,790,147UniSTSGRCh37
Build 36177,562,382 - 77,562,735RGDNCBI36
Celera176,029,360 - 76,029,708RGD
Cytogenetic Map1p31UniSTS
TNG Radiation Hybrid Map130279.0UniSTS
TNG Radiation Hybrid Map54328.0UniSTS
TNG Radiation Hybrid Map130266.0UniSTS
AK5_9482  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37178,024,893 - 78,025,690UniSTSGRCh37
Build 36177,797,481 - 77,798,278RGDNCBI36
Celera176,264,417 - 76,265,214RGD
HuRef176,156,701 - 76,157,494UniSTS
AFMA114ZD9  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37177,942,569 - 77,942,831UniSTSGRCh37
Build 36177,715,157 - 77,715,419RGDNCBI36
Celera176,182,108 - 76,182,370RGD
Cytogenetic Map1p31UniSTS
HuRef176,074,337 - 76,074,605UniSTS
Whitehead-YAC Contig Map1 UniSTS
SHGC-53458  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37178,025,748 - 78,025,985UniSTSGRCh37
Build 36177,798,336 - 77,798,573RGDNCBI36
Celera176,265,272 - 76,265,509RGD
Cytogenetic Map1p31UniSTS
HuRef176,157,552 - 76,157,789UniSTS
TNG Radiation Hybrid Map124007.0UniSTS
A004B41  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37178,000,213 - 78,000,328UniSTSGRCh37
Build 36177,772,801 - 77,772,916RGDNCBI36
Celera176,239,739 - 76,239,854RGD
Cytogenetic Map1p31UniSTS
HuRef176,132,105 - 76,132,220UniSTS
GeneMap99-GB4 RH Map1191.86UniSTS
SHGC-75022  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37177,827,926 - 77,828,051UniSTSGRCh37
Build 36177,600,514 - 77,600,639RGDNCBI36
Celera176,067,503 - 76,067,628RGD
Cytogenetic Map1p31UniSTS
HuRef175,959,096 - 75,959,221UniSTS
TNG Radiation Hybrid Map130301.0UniSTS
GeneMap99-GB4 RH Map1192.07UniSTS
GeneMap99-GB4 RH Map1192.38UniSTS
Whitehead-RH Map1217.3UniSTS
SHGC-30349  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37178,025,504 - 78,025,622UniSTSGRCh37
Build 36177,798,092 - 77,798,210RGDNCBI36
Celera176,265,028 - 76,265,146RGD
Cytogenetic Map1p31UniSTS
HuRef176,157,308 - 76,157,426UniSTS
Stanford-G3 RH Map13826.0UniSTS
GeneMap99-GB4 RH Map1229.87UniSTS
GeneMap99-GB4 RH Map1216.42UniSTS
Whitehead-RH Map1220.3UniSTS
NCBI RH Map1518.0UniSTS
GeneMap99-G3 RH Map13782.0UniSTS
D1S2157  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37177,783,423 - 77,783,601UniSTSGRCh37
Build 36177,556,011 - 77,556,189RGDNCBI36
Celera176,022,991 - 76,023,169RGD
Cytogenetic Map1p31UniSTS
HuRef175,914,593 - 75,914,771UniSTS
Whitehead-RH Map1219.2UniSTS
Whitehead-YAC Contig Map1 UniSTS
D1S2456  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37177,857,836 - 77,857,966UniSTSGRCh37
Build 36177,630,424 - 77,630,554RGDNCBI36
Celera176,097,695 - 76,097,825RGD
Cytogenetic Map1p31UniSTS
HuRef175,989,189 - 75,989,319UniSTS
Whitehead-RH Map1222.5UniSTS
Whitehead-YAC Contig Map1 UniSTS
D1S499  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map1p31UniSTS
Stanford-G3 RH Map13809.0UniSTS
NCBI RH Map1518.0UniSTS
GeneMap99-G3 RH Map13765.0UniSTS

miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:2153
Count of miRNA genes:852
Interacting mature miRNAs:976
Transcripts:ENST00000317704, ENST00000344720, ENST00000354567, ENST00000465146, ENST00000466114, ENST00000466393, ENST00000469394, ENST00000478255, ENST00000478407, ENST00000524494, ENST00000527263, ENST00000530826, ENST00000531672
Prediction methods:Microtar, Miranda, Rnahybrid, Targetscan
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 adipose tissue appendage entire extraembryonic component
High
Medium 17 84 38 2 1 2 565 13 2485 21 23 36 1 536
Low 1617 1559 462 112 615 20 2382 856 1195 170 911 325 95 478 1318
Below cutoff 708 1331 1088 388 875 320 1394 1295 42 173 471 1169 71 725 924 4

Sequence

Nucleotide Sequences
RefSeq Transcripts NM_012093 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_174858 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_005270739 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_006710572 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017001008 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017001009 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017001010 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017001011 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017001012 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AC093433 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC093575 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC095030 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF062595 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF445193 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK090967 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AW665223 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY171600 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC012467 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC033896 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC036666 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471059 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CR541890 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DN993295 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KF459522 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000317704
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl177,282,058 - 77,315,060 (+)Ensembl
RefSeq Acc Id: ENST00000344720   ⟹   ENSP00000341430
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl177,282,602 - 77,559,962 (+)Ensembl
RefSeq Acc Id: ENST00000354567   ⟹   ENSP00000346577
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl177,282,019 - 77,559,966 (+)Ensembl
RefSeq Acc Id: ENST00000465146
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl177,340,405 - 77,417,849 (+)Ensembl
RefSeq Acc Id: ENST00000466114
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl177,293,793 - 77,298,025 (+)Ensembl
RefSeq Acc Id: ENST00000466393
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl177,540,496 - 77,558,731 (+)Ensembl
RefSeq Acc Id: ENST00000469394
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl177,293,530 - 77,297,690 (+)Ensembl
RefSeq Acc Id: ENST00000478255   ⟹   ENSP00000433915
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl177,532,107 - 77,558,731 (+)Ensembl
RefSeq Acc Id: ENST00000478407   ⟹   ENSP00000434409
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl177,283,079 - 77,297,856 (+)Ensembl
RefSeq Acc Id: ENST00000524494
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl177,297,855 - 77,340,881 (+)Ensembl
RefSeq Acc Id: ENST00000527263   ⟹   ENSP00000436859
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl177,417,693 - 77,558,729 (+)Ensembl
RefSeq Acc Id: ENST00000530826
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl177,371,378 - 77,535,885 (+)Ensembl
RefSeq Acc Id: ENST00000531672
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl177,557,245 - 77,558,736 (+)Ensembl
RefSeq Acc Id: NM_012093   ⟹   NP_036225
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38177,283,087 - 77,559,966 (+)NCBI
GRCh37177,747,662 - 78,025,654 (+)ENTREZGENE
Build 36177,520,875 - 77,798,242 (+)NCBI Archive
Celera175,987,128 - 76,265,178 (+)RGD
HuRef175,878,838 - 76,157,458 (+)ENTREZGENE
CHM1_1177,863,659 - 78,141,541 (+)NCBI
Sequence:
RefSeq Acc Id: NM_174858   ⟹   NP_777283
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38177,282,019 - 77,559,966 (+)NCBI
GRCh37177,747,662 - 78,025,654 (+)ENTREZGENE
GRCh37177,747,662 - 78,025,654 (+)NCBI
Build 36177,520,330 - 77,798,242 (+)NCBI Archive
Celera175,987,128 - 76,265,178 (+)RGD
HuRef175,878,838 - 76,157,458 (+)ENTREZGENE
CHM1_1177,863,034 - 78,141,541 (+)NCBI
Sequence:
RefSeq Acc Id: XM_005270739   ⟹   XP_005270796
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38177,282,058 - 77,559,963 (+)NCBI
Sequence:
RefSeq Acc Id: XM_006710572   ⟹   XP_006710635
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38177,283,009 - 77,559,963 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017001008   ⟹   XP_016856497
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38177,283,017 - 77,559,963 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017001009   ⟹   XP_016856498
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38177,282,712 - 77,559,963 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017001010   ⟹   XP_016856499
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38177,282,313 - 77,559,963 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017001011   ⟹   XP_016856500
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38177,283,102 - 77,559,963 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017001012   ⟹   XP_016856501
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38177,281,908 - 77,504,953 (+)NCBI
Sequence:
Reference Sequences
RefSeq Acc Id: NP_777283   ⟸   NM_174858
- Peptide Label: isoform 1
- UniProtKB: Q9Y6K8 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_036225   ⟸   NM_012093
- Peptide Label: isoform 2
- UniProtKB: Q9Y6K8 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_005270796   ⟸   XM_005270739
- Peptide Label: isoform X1
- Sequence:
RefSeq Acc Id: XP_006710635   ⟸   XM_006710572
- Peptide Label: isoform X2
- UniProtKB: Q9Y6K8 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_016856501   ⟸   XM_017001012
- Peptide Label: isoform X4
- Sequence:
RefSeq Acc Id: XP_016856499   ⟸   XM_017001010
- Peptide Label: isoform X3
- Sequence:
RefSeq Acc Id: XP_016856498   ⟸   XM_017001009
- Peptide Label: isoform X2
- UniProtKB: Q9Y6K8 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_016856497   ⟸   XM_017001008
- Peptide Label: isoform X2
- UniProtKB: Q9Y6K8 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_016856500   ⟸   XM_017001011
- Peptide Label: isoform X3
- Sequence:
RefSeq Acc Id: ENSP00000434409   ⟸   ENST00000478407
RefSeq Acc Id: ENSP00000433915   ⟸   ENST00000478255
RefSeq Acc Id: ENSP00000346577   ⟸   ENST00000354567
RefSeq Acc Id: ENSP00000436859   ⟸   ENST00000527263
RefSeq Acc Id: ENSP00000341430   ⟸   ENST00000344720

Promoters
RGD ID:6856000
Promoter ID:EPDNEW_H1136
Type:initiation region
Name:AK5_1
Description:adenylate kinase 5
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H1137  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38177,282,056 - 77,282,116EPDNEW
RGD ID:6855944
Promoter ID:EPDNEW_H1137
Type:initiation region
Name:AK5_2
Description:adenylate kinase 5
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H1136  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38177,282,602 - 77,282,662EPDNEW
RGD ID:6784582
Promoter ID:HG_KWN:3321
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell
Transcripts:ENST00000354567,   ENST00000370807,   NM_012093,   OTTHUMT00000092213,   OTTHUMT00000092214
Position:
Human AssemblyChrPosition (strand)Source
Build 36177,519,861 - 77,520,361 (+)MPROMDB
RGD ID:6784585
Promoter ID:HG_KWN:3327
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:HeLa_S3
Transcripts:OTTHUMT00000096381
Position:
Human AssemblyChrPosition (strand)Source
Build 36177,778,591 - 77,779,091 (+)MPROMDB

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 1p31.1-13.3(chr1:72661709-107456880)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051825]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051825]|See cases [RCV000051825] Chr1:72661709..107456880 [GRCh38]
Chr1:73127392..107999502 [GRCh37]
Chr1:72899980..107801025 [NCBI36]
Chr1:1p31.1-13.3
pathogenic
NM_012093.3(AK5):c.1069+12565A>T single nucleotide variant Lung cancer [RCV000090988] Chr1:77498917 [GRCh38]
Chr1:77964602 [GRCh37]
Chr1:1p31.1
uncertain significance
GRCh38/hg38 1p32.1-22.3(chr1:58819605-86098611)x1 copy number loss See cases [RCV000136913] Chr1:58819605..86098611 [GRCh38]
Chr1:59285277..86564294 [GRCh37]
Chr1:59057865..86336882 [NCBI36]
Chr1:1p32.1-22.3
pathogenic
GRCh38/hg38 1p31.1-22.2(chr1:76419302-88628464)x1 copy number loss See cases [RCV000138957] Chr1:76419302..88628464 [GRCh38]
Chr1:76884987..89094147 [GRCh37]
Chr1:76657575..88866735 [NCBI36]
Chr1:1p31.1-22.2
pathogenic
GRCh38/hg38 1p31.1(chr1:77256993-77510214)x1 copy number loss See cases [RCV000142131] Chr1:77256993..77510214 [GRCh38]
Chr1:77722678..77975899 [GRCh37]
Chr1:77495266..77748487 [NCBI36]
Chr1:1p31.1
uncertain significance
GRCh38/hg38 1p31.1(chr1:77264562-77493002)x1 copy number loss See cases [RCV000143317] Chr1:77264562..77493002 [GRCh38]
Chr1:77730247..77958687 [GRCh37]
Chr1:77502835..77731275 [NCBI36]
Chr1:1p31.1
likely benign|uncertain significance
GRCh37/hg19 1p36.12-12(chr1:20608823-120546301)x3 copy number loss not provided [RCV000762767] Chr1:20608823..120546301 [GRCh37]
Chr1:1p36.12-12
likely benign
GRCh37/hg19 1p31.1(chr1:77722678-77970795)x1 copy number loss See cases [RCV000448416] Chr1:77722678..77970795 [GRCh37]
Chr1:1p31.1
uncertain significance
NM_174858.3(AK5):c.609= (p.Lys203=) single nucleotide variant not specified [RCV000454614] Chr1:77297857 [GRCh38]
Chr1:77763542 [GRCh37]
Chr1:1p31.1
benign
NM_174858.3(AK5):c.1681_1683dup (p.Ile561dup) duplication not specified [RCV000454873] Chr1:77558660..77558661 [GRCh38]
Chr1:78024345..78024346 [GRCh37]
Chr1:1p31.1
benign
NM_174858.3(AK5):c.1059+12C>T single nucleotide variant not specified [RCV000455276] Chr1:77417727 [GRCh38]
Chr1:77883412 [GRCh37]
Chr1:1p31.1
benign
NM_174858.3(AK5):c.1621-3T>C single nucleotide variant not specified [RCV000456016] Chr1:77558599 [GRCh38]
Chr1:78024284 [GRCh37]
Chr1:1p31.1
benign
GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)x3 copy number gain See cases [RCV000510383] Chr1:849467..249224684 [GRCh37]
Chr1:1p36.33-q44
pathogenic
GRCh37/hg19 1p31.1-22.1(chr1:72044544-92505091)x1 copy number loss See cases [RCV000510161] Chr1:72044544..92505091 [GRCh37]
Chr1:1p31.1-22.1
pathogenic
GRCh37/hg19 1p31.3-22.3(chr1:64321264-88153669)x1 copy number loss See cases [RCV000511392] Chr1:64321264..88153669 [GRCh37]
Chr1:1p31.3-22.3
pathogenic|uncertain significance
GRCh37/hg19 1p36.33-q44(chr1:849467-249224684) copy number gain See cases [RCV000510926] Chr1:849467..249224684 [GRCh37]
Chr1:1p36.33-q44
pathogenic
GRCh37/hg19 1p31.1(chr1:74848936-80324850)x3 copy number gain See cases [RCV000510973] Chr1:74848936..80324850 [GRCh37]
Chr1:1p31.1
uncertain significance
GRCh37/hg19 1p31.1(chr1:75648797-77770044)x1 copy number loss See cases [RCV000510871] Chr1:75648797..77770044 [GRCh37]
Chr1:1p31.1
likely pathogenic
GRCh37/hg19 1p31.1(chr1:77823556-78281638)x1 copy number loss See cases [RCV000511213] Chr1:77823556..78281638 [GRCh37]
Chr1:1p31.1
uncertain significance
GRCh37/hg19 1p31.3-31.1(chr1:61351024-79583933)x1 copy number loss See cases [RCV000512152] Chr1:61351024..79583933 [GRCh37]
Chr1:1p31.3-31.1
pathogenic
GRCh37/hg19 1p31.1(chr1:77717646-77970795)x1 copy number loss not provided [RCV000684592] Chr1:77717646..77970795 [GRCh37]
Chr1:1p31.1
uncertain significance
GRCh37/hg19 1p36.33-q44(chr1:47851-249228449)x3 copy number gain not provided [RCV000736295] Chr1:47851..249228449 [GRCh37]
Chr1:1p36.33-q44
pathogenic
GRCh37/hg19 1p36.33-q44(chr1:82154-249218992)x3 copy number gain not provided [RCV000736305] Chr1:82154..249218992 [GRCh37]
Chr1:1p36.33-q44
pathogenic
GRCh37/hg19 1p31.1(chr1:77768016-77781567)x1 copy number loss not provided [RCV000736543] Chr1:77768016..77781567 [GRCh37]
Chr1:1p31.1
benign
GRCh37/hg19 1p31.1(chr1:77955577-78040287)x3 copy number gain not provided [RCV000736544] Chr1:77955577..78040287 [GRCh37]
Chr1:1p31.1
benign
GRCh37/hg19 1p31.1(chr1:71410579-78131158) copy number gain not provided [RCV000767771] Chr1:71410579..78131158 [GRCh37]
Chr1:1p31.1
pathogenic
GRCh37/hg19 1p36.22-21.1(chr1:103343285-103455144)x3 copy number gain Global developmental delay [RCV000787285] Chr1:103343285..103455144 [GRCh37]
Chr1:1p36.22-21.1
uncertain significance
GRCh37/hg19 1p31.1(chr1:77954138-78053851)x3 copy number gain not provided [RCV000847497] Chr1:77954138..78053851 [GRCh37]
Chr1:1p31.1
uncertain significance
Single allele deletion not provided [RCV000844927] Chr1:66085524..88429789 [GRCh37]
Chr1:1p31.3-22.2
not provided
GRCh37/hg19 1p31.1(chr1:77153809-78015058)x3 copy number gain not provided [RCV000847465] Chr1:77153809..78015058 [GRCh37]
Chr1:1p31.1
uncertain significance
GRCh37/hg19 1p31.3-22.3(chr1:67851233-86101340)x1 copy number loss not provided [RCV000846441] Chr1:67851233..86101340 [GRCh37]
Chr1:1p31.3-22.3
pathogenic

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:365 AgrOrtholog
COSMIC AK5 COSMIC
Ensembl Genes ENSG00000154027 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Protein ENSP00000341430 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000346577 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000433915 UniProtKB/TrEMBL
  ENSP00000434409 UniProtKB/TrEMBL
  ENSP00000436859 UniProtKB/TrEMBL
Ensembl Transcript ENST00000344720 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000354567 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000478255 UniProtKB/TrEMBL
  ENST00000478407 UniProtKB/TrEMBL
  ENST00000527263 UniProtKB/TrEMBL
GTEx ENSG00000154027 GTEx
HGNC ID HGNC:365 ENTREZGENE
Human Proteome Map AK5 Human Proteome Map
InterPro Adenylat/UMP-CMP_kin UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Adenylat_kinase_CS UniProtKB/Swiss-Prot
  AK1/5 UniProtKB/Swiss-Prot
  P-loop_NTPase UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:26289 UniProtKB/Swiss-Prot
NCBI Gene 26289 ENTREZGENE
OMIM 608009 OMIM
PANTHER PTHR23359 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA24659 PharmGKB
PRINTS ADENYLTKNASE UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PROSITE ADENYLATE_KINASE UniProtKB/Swiss-Prot
Superfamily-SCOP SSF52540 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
TIGRFAMs aden_kin_iso1 UniProtKB/Swiss-Prot
UniProt E9PIS7_HUMAN UniProtKB/TrEMBL
  E9PQQ8_HUMAN UniProtKB/TrEMBL
  H0YEZ1_HUMAN UniProtKB/TrEMBL
  KAD5_HUMAN UniProtKB/Swiss-Prot, ENTREZGENE
UniProt Secondary Q5U622 UniProtKB/Swiss-Prot
  Q6FH66 UniProtKB/Swiss-Prot
  Q7Z4T5 UniProtKB/Swiss-Prot
  Q86YS0 UniProtKB/Swiss-Prot
  Q8N464 UniProtKB/Swiss-Prot
  Q96EC9 UniProtKB/Swiss-Prot