AK4 (adenylate kinase 4) - Rat Genome Database

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Gene: AK4 (adenylate kinase 4) Homo sapiens
Analyze
Symbol: AK4
Name: adenylate kinase 4
RGD ID: 1606591
HGNC Page HGNC:363
Description: Enables adenylate kinase activity; nucleoside diphosphate kinase activity; and nucleoside triphosphate adenylate kinase activity. Involved in nucleoside phosphate metabolic process; regulation of ATP biosynthetic process; and regulation of oxidative phosphorylation. Located in mitochondrion.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: adenylate kinase 3-like 1; adenylate kinase 4, mitochondrial; adenylate kinase isoenzyme 4; adenylate kinase isoenzyme 4, mitochondrial; AK 4; AK3; AK3L1; AK3L2; ATP-AMP transphosphorylase; GTP:AMP phosphotransferase; GTP:AMP phosphotransferase AK4; GTP:AMP phosphotransferase AK4, mitochondrial; MGC166959; mitochondrial adenylate kinase-3; nucleoside-triphosphate-adenylate kinase
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Genes
More Info more info ...
Related Pseudogenes: AK4P1   AK4P2   AK4P3   AK4P4   AK4P5   AK4P6  
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
NCBI Annotation Information: Note: On Build 36.2, AK3L1 and AK3L2 (GeneID 387851) were annotated at the same location. AK3L2 is defined as a locus on Chr12, which was annotated on Build 36.2 as GeneID 645619 on the reference assembly and 731007 on the Celera assembly. To remove the extra record, GeneID 387851 was merged into GeneID 205, and GeneID 645619 was renamed AK3L2. [13 Feb 2013]
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38165,147,552 - 65,232,145 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p13 Ensembl165,147,549 - 65,232,145 (+)EnsemblGRCh38hg38GRCh38
GRCh37165,613,235 - 65,697,828 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36165,385,820 - 65,465,765 (+)NCBINCBI36hg18NCBI36
Celera163,903,944 - 63,988,555 (+)NCBI
Cytogenetic Map1p31.3NCBI
HuRef163,722,163 - 63,806,551 (+)NCBIHuRef
CHM1_1165,729,523 - 65,814,075 (+)NCBICHM1_1
T2T-CHM13v2.0165,025,531 - 65,110,134 (+)NCBI
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View

Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
(+)-dexrazoxane  (ISO)
1,1-dichloroethene  (ISO)
1,2-dichloroethane  (ISO)
17alpha-ethynylestradiol  (ISO)
17beta-estradiol  (EXP)
17beta-hydroxy-5alpha-androstan-3-one  (EXP)
2,2',4,4'-Tetrabromodiphenyl ether  (ISO)
2,2,2-tetramine  (ISO)
2,3,7,8-tetrachlorodibenzodioxine  (ISO)
2,3,7,8-Tetrachlorodibenzofuran  (ISO)
2,4-dinitrotoluene  (ISO)
2,6-dinitrotoluene  (ISO)
3,3',4,4'-tetrachlorobiphenyl  (ISO)
3-isobutyl-1-methyl-7H-xanthine  (EXP)
4,4'-sulfonyldiphenol  (EXP)
4-amino-2,6-dinitrotoluene  (ISO)
4-hydroxyphenyl retinamide  (ISO)
5-aza-2'-deoxycytidine  (EXP,ISO)
6-propyl-2-thiouracil  (ISO)
acetamide  (ISO)
acrylamide  (EXP)
adefovir pivoxil  (EXP)
aflatoxin B1  (EXP)
all-trans-retinoic acid  (EXP)
amiodarone  (ISO)
ammonium chloride  (ISO)
aristolochic acid  (EXP)
beauvericin  (EXP)
benzene  (ISO)
benzo[a]pyrene  (EXP,ISO)
benzo[a]pyrene diol epoxide I  (EXP)
beta-naphthoflavone  (EXP)
bis(2-ethylhexyl) phthalate  (EXP,ISO)
bisphenol A  (EXP,ISO)
bisphenol F  (EXP)
buspirone  (ISO)
butanal  (EXP)
cadmium dichloride  (EXP)
carbon nanotube  (ISO)
CGP 52608  (EXP)
chloroacetaldehyde  (EXP)
choline  (ISO)
chromium(6+)  (EXP)
cidofovir anhydrous  (EXP)
cisplatin  (EXP)
clofibrate  (ISO)
cobalt dichloride  (EXP,ISO)
copper atom  (ISO)
copper(0)  (ISO)
copper(II) sulfate  (EXP)
Cuprizon  (EXP,ISO)
cyclosporin A  (EXP)
dexamethasone  (EXP)
diazinon  (EXP)
dibenz[a,h]anthracene  (ISO)
dimethylarsinic acid  (ISO)
dioxygen  (EXP,ISO)
dorsomorphin  (EXP)
doxorubicin  (EXP,ISO)
endosulfan  (ISO)
enniatin  (EXP)
entinostat  (EXP)
ethanol  (ISO)
fenofibrate  (ISO)
flavonoids  (ISO)
fluoranthene  (ISO)
flutamide  (ISO)
folic acid  (EXP,ISO)
fulvestrant  (EXP)
gamma-hexachlorocyclohexane  (EXP)
genistein  (EXP,ISO)
gentamycin  (ISO)
haloperidol  (EXP)
ibuprofen  (EXP)
ifosfamide  (EXP)
indometacin  (EXP)
isoprenaline  (ISO)
ivermectin  (EXP)
L-ascorbic acid  (ISO)
L-methionine  (ISO)
leflunomide  (ISO)
metformin  (ISO)
methylarsonic acid  (ISO)
methylmercury chloride  (EXP)
N-methyl-4-phenylpyridinium  (EXP,ISO)
N-nitrosodiethylamine  (ISO)
nefazodone  (ISO)
nickel dichloride  (ISO)
nickel subsulfide  (ISO)
nimesulide  (ISO)
nitrofen  (ISO)
paracetamol  (EXP,ISO)
perfluorooctanoic acid  (EXP,ISO)
phenobarbital  (ISO)
phenylephrine  (ISO)
phenylmercury acetate  (EXP)
pirinixic acid  (ISO)
propiconazole  (ISO)
pyrogallol  (ISO)
quercetin  (EXP,ISO)
SB 431542  (EXP)
silicon dioxide  (EXP)
silver atom  (ISO)
silver(0)  (ISO)
sodium arsenate  (ISO)
sodium arsenite  (EXP,ISO)
sodium fluoride  (ISO)
Soman  (ISO)
streptozocin  (ISO)
sunitinib  (EXP)
tamibarotene  (EXP)
tert-butyl hydroperoxide  (ISO)
tetrachloromethane  (ISO)
tetracycline  (ISO)
thapsigargin  (EXP)
thimerosal  (EXP)
thioacetamide  (ISO)
trichloroethene  (ISO)
trichostatin A  (EXP)
triphenyl phosphate  (ISO)
troglitazone  (ISO)
tunicamycin  (EXP)
urethane  (EXP)
valproic acid  (EXP)
vancomycin  (ISO)
vorinostat  (EXP)
zinc dichloride  (EXP)

Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component

Molecular Pathway Annotations     Click to see Annotation Detail View
Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
References

References - curated
# Reference Title Reference Citation
1. Dynamics of nucleotide metabolism as a supporter of life phenomena. Noma T J Med Invest. 2005 Aug;52(3-4):127-36.
2. KEGG Annotation Import Pipeline Pipeline to import KEGG annotations from KEGG into RGD
3. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
4. Proteomics investigation on aristolochic acid nephropathy: a case study on rat kidney tissues. Wu HZ, etal., Anal Bioanal Chem. 2011 Apr;399(10):3431-9. Epub 2010 Dec 9.
5. Transcriptomic characteristics of bronchoalveolar lavage fluid and peripheral blood mononuclear cells in COVID-19 patients. Xiong Y, etal., Emerg Microbes Infect. 2020 Dec;9(1):761-770. doi: 10.1080/22221751.2020.1747363.
6. Investigation of proteomic biomarkers in in vivo hepatotoxicity study of rat liver: toxicity differentiation in hepatotoxicants. Yamamoto T, etal., J Toxicol Sci. 2006 Feb;31(1):49-60.
Additional References at PubMed
PMID:182062   PMID:1639383   PMID:7140357   PMID:9504419   PMID:9813319   PMID:10544043   PMID:11485571   PMID:12477932   PMID:15489334   PMID:16341674   PMID:16344560   PMID:19073142  
PMID:19130895   PMID:19322201   PMID:19766732   PMID:20379614   PMID:21832049   PMID:21873635   PMID:21900206   PMID:21988832   PMID:23002211   PMID:23376485   PMID:23416111   PMID:23474458  
PMID:23509962   PMID:24767988   PMID:24797263   PMID:26186194   PMID:26980435   PMID:28514442   PMID:29117863   PMID:29128334   PMID:29395067   PMID:29568061   PMID:29866054   PMID:30097533  
PMID:30696468   PMID:31091453   PMID:31444368   PMID:31463832   PMID:31536960   PMID:31827645   PMID:31931771   PMID:32235678   PMID:32877691   PMID:32956623   PMID:33361582   PMID:33499712  
PMID:33845483   PMID:33957083   PMID:33961781   PMID:34079125   PMID:34638712   PMID:35032548  


Genomics

Comparative Map Data
AK4
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38165,147,552 - 65,232,145 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p13 Ensembl165,147,549 - 65,232,145 (+)EnsemblGRCh38hg38GRCh38
GRCh37165,613,235 - 65,697,828 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36165,385,820 - 65,465,765 (+)NCBINCBI36hg18NCBI36
Celera163,903,944 - 63,988,555 (+)NCBI
Cytogenetic Map1p31.3NCBI
HuRef163,722,163 - 63,806,551 (+)NCBIHuRef
CHM1_1165,729,523 - 65,814,075 (+)NCBICHM1_1
T2T-CHM13v2.0165,025,531 - 65,110,134 (+)NCBI
Ak4
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm394101,273,675 - 101,324,968 (+)NCBIGRCm39mm39
GRCm39 Ensembl4101,276,474 - 101,324,192 (+)Ensembl
GRCm384101,416,478 - 101,467,771 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl4101,419,277 - 101,466,995 (+)EnsemblGRCm38mm10GRCm38
MGSCv374101,091,894 - 101,140,376 (+)NCBIGRCm37mm9NCBIm37
MGSCv364100,917,690 - 100,964,927 (+)NCBImm8
Celera499,759,270 - 99,808,044 (+)NCBICelera
Cytogenetic Map4C6NCBI
cM Map446.84NCBI
Ak4
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.25116,039,222 - 116,099,064 (+)NCBImRatBN7.2
mRatBN7.2 Ensembl5116,039,616 - 116,098,618 (+)Ensembl
Rnor_6.05120,250,318 - 120,309,153 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl5120,250,616 - 120,305,897 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.05124,129,933 - 124,189,606 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.45122,062,872 - 122,119,335 (+)NCBIRGSC3.4rn4RGSC3.4
RGSC_v3.15122,068,045 - 122,127,564 (+)NCBI
Celera5114,576,993 - 114,626,919 (+)NCBICelera
Cytogenetic Map5q33NCBI
Ak4
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495542325,395,836 - 25,427,474 (-)EnsemblChiLan1.0
ChiLan1.0NW_00495542325,395,086 - 25,402,324 (-)NCBIChiLan1.0ChiLan1.0
AK4
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.1166,283,102 - 66,367,146 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl166,283,102 - 66,361,230 (+)Ensemblpanpan1.1panPan2
Mhudiblu_PPA_v0164,394,898 - 64,479,536 (+)NCBIMhudiblu_PPA_v0panPan3
DNAJC6
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1545,055,294 - 45,119,595 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl544,884,283 - 45,120,203 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha545,107,227 - 45,176,810 (-)NCBI
ROS_Cfam_1.0545,230,958 - 45,300,604 (-)NCBI
ROS_Cfam_1.0 Ensembl545,235,891 - 45,300,627 (-)Ensembl
UMICH_Zoey_3.1545,196,507 - 45,265,914 (-)NCBI
UNSW_CanFamBas_1.0545,140,926 - 45,210,260 (-)NCBI
UU_Cfam_GSD_1.0545,392,014 - 45,461,310 (-)NCBI
Ak4
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440505878,277,939 - 78,342,917 (+)NCBI
SpeTri2.0NW_0049366922,593,409 - 2,654,583 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
AK4
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl6147,177,029 - 147,257,814 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.16147,177,029 - 147,257,799 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.26135,587,473 - 135,663,801 (-)NCBISscrofa10.2Sscrofa10.2susScr3
AK4
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.12067,840,572 - 67,924,691 (-)NCBIChlSab1.1chlSab2
Vero_WHO_p1.0NW_02366603349,603,493 - 49,717,228 (+)NCBIVero_WHO_p1.0
Ak4
(Heterocephalus glaber - naked mole-rat)
Naked Mole-rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_00462474229,547,237 - 29,574,160 (-)NCBIHetGla_female_1.0hetGla2

Position Markers
WI-11122  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37165,697,610 - 65,697,789UniSTSGRCh37
Build 36165,470,198 - 65,470,377RGDNCBI36
Celera163,988,337 - 63,988,516RGD
Cytogenetic Map1p31.3UniSTS
HuRef163,806,333 - 63,806,512UniSTS
GeneMap99-GB4 RH Map1175.76UniSTS
Whitehead-RH Map1202.4UniSTS
SHGC-143375  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37165,697,591 - 65,697,901UniSTSGRCh37
Build 36165,470,179 - 65,470,489RGDNCBI36
Celera163,988,318 - 63,988,628RGD
Cytogenetic Map1p31.3UniSTS
HuRef163,806,314 - 63,806,624UniSTS
TNG Radiation Hybrid Map190891.0UniSTS
A009S21  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37165,694,925 - 65,695,076UniSTSGRCh37
Build 36165,467,513 - 65,467,664RGDNCBI36
Celera163,985,652 - 63,985,803RGD
Cytogenetic Map1p31.3UniSTS
HuRef163,803,648 - 63,803,799UniSTS
GeneMap99-GB4 RH Map1174.01UniSTS
NCBI RH Map1434.7UniSTS
G16073  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37165,697,875 - 65,698,045UniSTSGRCh37
Build 36165,470,463 - 65,470,633RGDNCBI36
Celera163,988,602 - 63,988,772RGD
Cytogenetic Map1p31.3UniSTS
HuRef163,806,598 - 63,806,768UniSTS
SGC34423  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37165,696,581 - 65,696,708UniSTSGRCh37
Build 36165,469,169 - 65,469,296RGDNCBI36
Celera163,987,308 - 63,987,435RGD
Cytogenetic Map1p31.3UniSTS
HuRef163,805,304 - 63,805,431UniSTS
GeneMap99-GB4 RH Map1174.11UniSTS
GeneMap99-GB4 RH Map1152.02UniSTS
Whitehead-RH Map1200.7UniSTS
NCBI RH Map1422.0UniSTS
SHGC-74947  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37165,683,737 - 65,683,825UniSTSGRCh37
Build 36165,456,325 - 65,456,413RGDNCBI36
Celera163,974,461 - 63,974,549RGD
Cytogenetic Map1p31.3UniSTS
HuRef163,792,456 - 63,792,544UniSTS
TNG Radiation Hybrid Map190895.0UniSTS
GeneMap99-GB4 RH Map1174.38UniSTS
NCBI RH Map1422.0UniSTS
AL009904  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37165,678,428 - 65,678,514UniSTSGRCh37
Build 36165,451,016 - 65,451,102RGDNCBI36
Celera163,969,154 - 63,969,240RGD
Cytogenetic Map1p31.3UniSTS
HuRef163,787,149 - 63,787,235UniSTS
RH70853  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map1p31.3UniSTS
G32808  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37165,694,925 - 65,695,076UniSTSGRCh37
Celera163,985,652 - 63,985,803UniSTS
Cytogenetic Map1p31.3UniSTS
HuRef163,803,648 - 63,803,799UniSTS
WI-7525  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map1p31.3UniSTS

miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:7877
Count of miRNA genes:1214
Interacting mature miRNAs:1528
Transcripts:ENST00000327299, ENST00000395334, ENST00000470888, ENST00000474968, ENST00000479060, ENST00000497030, ENST00000545314, ENST00000546702
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 1804 1903 465 468 545 427 2749 1146 2203 334 902 263 53 857 1466
Low 625 489 1162 156 680 37 1336 771 1523 68 552 1330 122 1 347 1051 3 2
Below cutoff 8 598 98 710 1 271 278 7 17 6 17 271 2

Sequence

Nucleotide Sequences
RefSeq Transcripts NM_001005353 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001330616 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_013410 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_203464 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017000613 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047449174 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AC099680 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK025926 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK026966 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK309057 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK313611 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL356212 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC016180 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC040224 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC066944 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC136886 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC136887 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC146653 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC148270 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BF205061 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BG703687 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BM763432 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BU164554 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471059 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068277 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CR456830 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DB061266 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DR003868 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  GQ891422 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HE605211 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  X60673 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000327299   ⟹   ENSP00000322175
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl165,148,203 - 65,232,145 (+)Ensembl
RefSeq Acc Id: ENST00000395334   ⟹   ENSP00000378743
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl165,147,830 - 65,232,145 (+)Ensembl
RefSeq Acc Id: ENST00000470888
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl165,147,669 - 65,224,837 (+)Ensembl
RefSeq Acc Id: ENST00000474968
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl165,149,002 - 65,226,439 (+)Ensembl
RefSeq Acc Id: ENST00000479060
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl165,165,932 - 65,226,429 (+)Ensembl
RefSeq Acc Id: ENST00000497030
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl165,147,549 - 65,226,092 (+)Ensembl
RefSeq Acc Id: ENST00000545314   ⟹   ENSP00000445912
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl165,147,549 - 65,232,145 (+)Ensembl
RefSeq Acc Id: ENST00000546702   ⟹   ENSP00000448458
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl165,147,670 - 65,226,891 (+)Ensembl
RefSeq Acc Id: NM_001005353   ⟹   NP_001005353
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38165,147,853 - 65,232,145 (+)NCBI
GRCh37165,613,232 - 65,697,828 (+)ENTREZGENE
Build 36165,386,101 - 65,465,765 (+)NCBI Archive
HuRef163,722,163 - 63,806,551 (+)ENTREZGENE
CHM1_1165,729,804 - 65,814,075 (+)NCBI
T2T-CHM13v2.0165,025,832 - 65,110,134 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001330616   ⟹   NP_001317545
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38165,148,994 - 65,232,145 (+)NCBI
T2T-CHM13v2.0165,026,973 - 65,110,134 (+)NCBI
Sequence:
RefSeq Acc Id: NM_013410   ⟹   NP_037542
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38165,148,203 - 65,232,145 (+)NCBI
GRCh37165,613,232 - 65,697,828 (+)ENTREZGENE
Build 36165,386,474 - 65,465,765 (+)NCBI Archive
HuRef163,722,163 - 63,806,551 (+)ENTREZGENE
CHM1_1165,730,141 - 65,814,075 (+)NCBI
T2T-CHM13v2.0165,026,182 - 65,110,134 (+)NCBI
Sequence:
RefSeq Acc Id: NM_203464   ⟹   NP_982289
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38165,147,552 - 65,232,145 (+)NCBI
GRCh37165,613,232 - 65,697,828 (+)ENTREZGENE
Build 36165,385,820 - 65,465,765 (+)NCBI Archive
HuRef163,722,163 - 63,806,551 (+)ENTREZGENE
CHM1_1165,729,523 - 65,814,075 (+)NCBI
T2T-CHM13v2.0165,025,531 - 65,110,134 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017000613   ⟹   XP_016856102
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38165,147,552 - 65,232,145 (+)NCBI
Sequence:
RefSeq Acc Id: XM_047449174   ⟹   XP_047305130
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38165,165,912 - 65,232,145 (+)NCBI
Reference Sequences
RefSeq Acc Id: NP_982289   ⟸   NM_203464
- Peptide Label: isoform a
- UniProtKB: Q8IUU9 (UniProtKB/Swiss-Prot),   P27144 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001005353   ⟸   NM_001005353
- Peptide Label: isoform a
- UniProtKB: Q8IUU9 (UniProtKB/Swiss-Prot),   P27144 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_037542   ⟸   NM_013410
- Peptide Label: isoform a
- UniProtKB: Q8IUU9 (UniProtKB/Swiss-Prot),   P27144 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_016856102   ⟸   XM_017000613
- Peptide Label: isoform X1
- UniProtKB: D3DQ64 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001317545   ⟸   NM_001330616
- Peptide Label: isoform b
- UniProtKB: D3DQ64 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: ENSP00000445912   ⟸   ENST00000545314
RefSeq Acc Id: ENSP00000448458   ⟸   ENST00000546702
RefSeq Acc Id: ENSP00000322175   ⟸   ENST00000327299
RefSeq Acc Id: ENSP00000378743   ⟸   ENST00000395334
RefSeq Acc Id: XP_047305130   ⟸   XM_047449174
- Peptide Label: isoform X1
Protein Domains
ADK_lid

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-P27144-F1-model_v2 AlphaFold P27144 1-223 view protein structure

Promoters
RGD ID:6855772
Promoter ID:EPDNEW_H1051
Type:initiation region
Name:AK4_2
Description:adenylate kinase 4
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H1052  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38165,147,640 - 65,147,700EPDNEW
RGD ID:6855774
Promoter ID:EPDNEW_H1052
Type:initiation region
Name:AK4_1
Description:adenylate kinase 4
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H1051  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38165,148,203 - 65,148,263EPDNEW
RGD ID:6784592
Promoter ID:HG_KWN:3102
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:HeLa_S3,   K562,   Lymphoblastoid,   NB4
Transcripts:ENST00000327299,   NM_001005353,   NM_203464,   OTTHUMT00000025042,   OTTHUMT00000025043,   UC009WAN.1
Position:
Human AssemblyChrPosition (strand)Source
Build 36165,385,886 - 65,387,312 (+)MPROMDB
RGD ID:6784593
Promoter ID:HG_KWN:3103
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:Lymphoblastoid
Transcripts:OTTHUMT00000025044
Position:
Human AssemblyChrPosition (strand)Source
Build 36165,403,821 - 65,404,321 (+)MPROMDB
RGD ID:6814850
Promoter ID:HG_MRA:595
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:HeLa_S3
Transcripts:AK026966
Position:
Human AssemblyChrPosition (strand)Source
Build 36165,468,081 - 65,468,581 (+)MPROMDB

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 1p32.1-31.1(chr1:60473800-70944955)x1 copy number loss See cases [RCV000050703] Chr1:60473800..70944955 [GRCh38]
Chr1:60939472..71410638 [GRCh37]
Chr1:60712060..71183226 [NCBI36]
Chr1:1p32.1-31.1
pathogenic
GRCh38/hg38 1p32.3-31.1(chr1:52595352-76767765)x3 copy number gain See cases [RCV000051822] Chr1:52595352..76767765 [GRCh38]
Chr1:53061024..77233450 [GRCh37]
Chr1:52833612..77006038 [NCBI36]
Chr1:1p32.3-31.1
pathogenic
GRCh38/hg38 1p31.3(chr1:61922650-66445757)x3 copy number gain See cases [RCV000051824] Chr1:61922650..66445757 [GRCh38]
Chr1:62388322..66911440 [GRCh37]
Chr1:62160910..66684028 [NCBI36]
Chr1:1p31.3
pathogenic
GRCh38/hg38 1p32.2-31.1(chr1:57350574-71325924)x1 copy number loss See cases [RCV000053841] Chr1:57350574..71325924 [GRCh38]
Chr1:57816246..71791607 [GRCh37]
Chr1:57588834..71564195 [NCBI36]
Chr1:1p32.2-31.1
pathogenic
GRCh38/hg38 1p32.1-31.1(chr1:59632500-76730877)x1 copy number loss See cases [RCV000053842] Chr1:59632500..76730877 [GRCh38]
Chr1:60098172..77196562 [GRCh37]
Chr1:59870760..76969150 [NCBI36]
Chr1:1p32.1-31.1
pathogenic
GRCh38/hg38 1p32.1-31.1(chr1:59760856-71578052)x1 copy number loss See cases [RCV000133710] Chr1:59760856..71578052 [GRCh38]
Chr1:60226528..72043735 [GRCh37]
Chr1:59999116..71816323 [NCBI36]
Chr1:1p32.1-31.1
pathogenic
GRCh38/hg38 1p32.1-31.2(chr1:58819605-69107108)x1 copy number loss See cases [RCV000134142] Chr1:58819605..69107108 [GRCh38]
Chr1:59285277..69572791 [GRCh37]
Chr1:59057865..69345379 [NCBI36]
Chr1:1p32.1-31.2
pathogenic
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 1p31.3(chr1:64944525-67592003)x1 copy number loss See cases [RCV000140906] Chr1:64944525..67592003 [GRCh38]
Chr1:65410208..68057686 [GRCh37]
Chr1:65182796..67830274 [NCBI36]
Chr1:1p31.3
likely pathogenic|uncertain significance
GRCh38/hg38 1p32.3-31.3(chr1:52787503-67339873)x3 copy number gain See cases [RCV000141758] Chr1:52787503..67339873 [GRCh38]
Chr1:53253175..67805556 [GRCh37]
Chr1:53025763..67578144 [NCBI36]
Chr1:1p32.3-31.3
likely pathogenic
GRCh38/hg38 1p31.3-31.1(chr1:64072618-75518432)x3 copy number gain See cases [RCV000142452] Chr1:64072618..75518432 [GRCh38]
Chr1:64538290..75984117 [GRCh37]
Chr1:64310878..75756705 [NCBI36]
Chr1:1p31.3-31.1
pathogenic
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 1p31.3-31.1(chr1:63252828-77402595)x1 copy number loss See cases [RCV000446378] Chr1:63252828..77402595 [GRCh37]
Chr1:1p31.3-31.1
pathogenic
GRCh37/hg19 1p31.3(chr1:61785602-67430956)x3 copy number gain See cases [RCV000446769] Chr1:61785602..67430956 [GRCh37]
Chr1:1p31.3
pathogenic
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 1p31.3-22.3(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 1p31.3-31.1(chr1:61351024-79583933)x1 copy number loss See cases [RCV000512152] Chr1:61351024..79583933 [GRCh37]
Chr1:1p31.3-31.1
pathogenic
GRCh37/hg19 1p31.3(chr1:64848307-67436595)x1 copy number loss not provided [RCV000684581] Chr1:64848307..67436595 [GRCh37]
Chr1:1p31.3
uncertain significance
GRCh37/hg19 1p31.3(chr1:65332710-65617480)x3 copy number gain not provided [RCV000684582] Chr1:65332710..65617480 [GRCh37]
Chr1:1p31.3
uncertain significance
GRCh37/hg19 1p31.3-31.1(chr1:62434799-71656180)x3 copy number gain not provided [RCV000684577] Chr1:62434799..71656180 [GRCh37]
Chr1:1p31.3-31.1
pathogenic
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 1p31.3(chr1:65673325-65837730)x3 copy number gain not provided [RCV000847856] Chr1:65673325..65837730 [GRCh37]
Chr1:1p31.3
uncertain significance
Single allele deletion Intellectual disability, severe [RCV000824954] Chr1:59922631..72058653 [GRCh37]
Chr1:1p32.1-31.1
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 1p32.3-31.3(chr1:53675707-66644963)x1 copy number loss Chromosome 1p32-p31 deletion syndrome [RCV001263218] Chr1:53675707..66644963 [GRCh37]
Chr1:1p32.3-31.3
pathogenic
GRCh37/hg19 1p31.3-31.2(chr1:65125111-69186543) copy number gain not specified [RCV002053380] Chr1:65125111..69186543 [GRCh37]
Chr1:1p31.3-31.2
uncertain significance

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:363 AgrOrtholog
COSMIC AK4 COSMIC
Ensembl Genes ENSG00000162433 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Protein ENSP00000322175 ENTREZGENE
  ENSP00000322175.7 UniProtKB/Swiss-Prot
  ENSP00000378743 ENTREZGENE
  ENSP00000378743.2 UniProtKB/Swiss-Prot
  ENSP00000445912 ENTREZGENE
  ENSP00000445912.1 UniProtKB/Swiss-Prot
  ENSP00000448458 ENTREZGENE
  ENSP00000448458.1 UniProtKB/TrEMBL
Ensembl Transcript ENST00000327299 ENTREZGENE
  ENST00000327299.8 UniProtKB/Swiss-Prot
  ENST00000395334 ENTREZGENE
  ENST00000395334.6 UniProtKB/Swiss-Prot
  ENST00000545314 ENTREZGENE
  ENST00000545314.5 UniProtKB/Swiss-Prot
  ENST00000546702 ENTREZGENE
  ENST00000546702.5 UniProtKB/TrEMBL
Gene3D-CATH 3.40.50.300 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000162433 GTEx
HGNC ID HGNC:363 ENTREZGENE
Human Proteome Map AK4 Human Proteome Map
InterPro Adenyl_kin_sub UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Adenylat/UMP-CMP_kin UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Adenylat_kinase_CS UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Adenylate_kinase_lid-dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  ADK_active_lid_dom_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  AK3/Ak4_mitochondrial UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  AK4_mitochondrial UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  P-loop_NTPase UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:205 UniProtKB/Swiss-Prot
NCBI Gene 205 ENTREZGENE
OMIM 103030 OMIM
PANTHER PTHR23359 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam ADK_lid UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA165750325 PharmGKB
PRINTS ADENYLTKNASE UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PROSITE ADENYLATE_KINASE UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF52540 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SSF57774 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
TIGRFAMs adk UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A0A384N647_HUMAN UniProtKB/TrEMBL
  D3DQ64 ENTREZGENE
  F8VS11_HUMAN UniProtKB/TrEMBL
  K4Q5R3_HUMAN UniProtKB/TrEMBL
  KAD4_HUMAN UniProtKB/Swiss-Prot, ENTREZGENE
  Q8IUU9 ENTREZGENE
UniProt Secondary B2R927 UniProtKB/Swiss-Prot
  D3DQ62 UniProtKB/Swiss-Prot
  Q6IBH4 UniProtKB/Swiss-Prot
  Q6NXQ5 UniProtKB/Swiss-Prot
  Q8IUU9 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2011-08-23 AK4  adenylate kinase 4  AK4  adenylate kinase 4  Symbol and/or name change 5135510 APPROVED
2011-07-27 AK4  adenylate kinase 4  AK3L1  adenylate kinase 3-like 1  Symbol and/or name change 5135510 APPROVED