AK1 (adenylate kinase 1) - Rat Genome Database

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Gene: AK1 (adenylate kinase 1) Homo sapiens
Analyze
Symbol: AK1
Name: adenylate kinase 1
RGD ID: 736701
HGNC Page HGNC:361
Description: Enables adenylate kinase activity and nucleoside diphosphate kinase activity. Involved in nucleoside diphosphate phosphorylation and nucleoside triphosphate biosynthetic process. Located in cytosol. Implicated in congenital nonspherocytic hemolytic anemia and hemolytic anemia. Biomarker of obesity.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: adenylate kinase isoenzyme 1; adenylate monophosphate kinase; AK 1; ATP-AMP transphosphorylase 1; ATP:AMP phosphotransferase; HTL-S-58j; myokinase; testis secretory sperm binding protein Li 58j
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
GRCh389127,866,480 - 127,879,621 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p13 Ensembl9127,866,486 - 127,877,675 (-)EnsemblGRCh38hg38GRCh38
GRCh379130,628,759 - 130,641,900 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 369129,668,580 - 129,679,843 (-)NCBINCBI36hg18NCBI36
Build 349127,708,222 - 127,719,495NCBI
Celera9101,279,601 - 101,290,850 (-)NCBI
Cytogenetic Map9q34.11NCBI
HuRef9100,246,223 - 100,257,472 (-)NCBIHuRef
CHM1_19130,780,691 - 130,791,941 (-)NCBICHM1_1
T2T-CHM13v2.09140,073,895 - 140,087,021 (-)NCBI
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
(S)-colchicine  (ISO)
1,1-dichloroethene  (ISO)
1,10-phenanthroline  (EXP)
1,2-dimethylhydrazine  (ISO)
1-naphthyl isothiocyanate  (ISO)
14-Deoxy-11,12-didehydroandrographolide  (EXP)
2,2',4,4',5,5'-hexachlorobiphenyl  (ISO)
2,2',5,5'-tetrachlorobiphenyl  (ISO)
2,3,7,8-tetrachlorodibenzodioxine  (ISO)
2-acetamidofluorene  (ISO)
2-methylcholine  (EXP)
3-chloropropane-1,2-diol  (ISO)
3-isobutyl-1-methyl-7H-xanthine  (EXP)
4,4'-sulfonyldiphenol  (EXP)
5-chloro-7-iodoquinolin-8-ol  (EXP)
acrylamide  (ISO)
ADP  (ISO)
aflatoxin B1  (EXP,ISO)
ammonium chloride  (ISO)
amphetamine  (ISO)
aristolochic acid  (EXP)
atrazine  (EXP)
benzatropine  (EXP)
benzo[a]pyrene  (EXP,ISO)
benzo[b]fluoranthene  (ISO)
bisphenol A  (ISO)
butanal  (EXP)
cadmium dichloride  (EXP,ISO)
cannabidiol  (EXP)
carbon nanotube  (ISO)
choline  (ISO)
cisplatin  (EXP,ISO)
clozapine  (EXP)
cobalt dichloride  (EXP,ISO)
cobalt(2+) sulfate  (EXP)
cocaine  (EXP)
copper(II) sulfate  (EXP)
Cuprizon  (EXP)
curcumin  (EXP)
decabromodiphenyl ether  (ISO)
dexamethasone  (EXP,ISO)
diazinon  (EXP)
dibenz[a,h]anthracene  (ISO)
dioxygen  (ISO)
doxorubicin  (ISO)
elemental selenium  (EXP)
ethanol  (ISO)
folic acid  (ISO)
furan  (ISO)
genistein  (ISO)
indometacin  (EXP)
ivermectin  (EXP)
L-methionine  (ISO)
methamphetamine  (ISO)
methoxychlor  (ISO)
nickel dichloride  (ISO)
nitrites  (ISO)
ochratoxin A  (ISO)
ozone  (ISO)
paracetamol  (EXP,ISO)
paraquat  (ISO)
PCB138  (ISO)
permethrin  (EXP)
progesterone  (ISO)
sarin  (ISO)
selenium atom  (EXP)
silver atom  (ISO)
silver(0)  (ISO)
sodium arsenite  (EXP,ISO)
sodium fluoride  (ISO)
temozolomide  (EXP)
tetrachloromethane  (ISO)
thioacetamide  (ISO)
titanium dioxide  (ISO)
trichloroethene  (ISO)
triptonide  (ISO)
valproic acid  (EXP,ISO)
vincaleukoblastine  (ISO)
vinclozolin  (ISO)
vincristine  (ISO)
vitamin E  (EXP)

Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
References

References - curated
# Reference Title Reference Citation
1. Erythrocyte adenylate kinase deficiency: characterization of recombinant mutant forms and relationship with nonspherocytic hemolytic anemia. Abrusci P, etal., Exp Hematol. 2007 Aug;35(8):1182-9.
2. A case of complete adenylate kinase deficiency due to a nonsense mutation in AK-1 gene (Arg 107 --> Stop, CGA --> TGA) associated with chronic haemolytic anaemia. Bianchi P, etal., Br J Haematol 1999 Apr;105(1):75-9.
3. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
4. Proteome analysis of skeletal muscle from obese and morbidly obese women. Hittel DS, etal., Diabetes. 2005 May;54(5):1283-8.
5. Adenylate kinase 1 gene deletion disrupts muscle energetic economy despite metabolic rearrangement. Janssen E, etal., EMBO J 2000 Dec 1;19(23):6371-81.
6. KEGG: Kyoto Encyclopedia of Genes and Genomes KEGG
7. Resveratrol protects left ventricle by increasing adenylate kinase and isocitrate dehydrogenase activities in rats with myocardial infarction. Lin JF, etal., Chin J Physiol. 2011 Dec 31;54(6):406-12. doi: 10.4077/CJP.2011.AMM097.
8. Proteomic profiling of non-obese type 2 diabetic skeletal muscle. Mullen E and Ohlendieck K, Int J Mol Med. 2010 Mar;25(3):445-58.
9. Dynamics of nucleotide metabolism as a supporter of life phenomena. Noma T J Med Invest. 2005 Aug;52(3-4):127-36.
10. Proteomic profiling reveals a severely perturbed protein expression pattern in aged skeletal muscle. O'Connell K, etal., Int J Mol Med. 2007 Aug;20(2):145-53.
11. OMIM Disease Annotation Pipeline OMIM Disease Annotation Pipeline
12. KEGG Annotation Import Pipeline Pipeline to import KEGG annotations from KEGG into RGD
13. SMPDB Annotation Import Pipeline Pipeline to import SMPDB annotations from SMPDB into RGD
14. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
15. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
16. RGD HPO Phenotype Annotation Pipeline RGD automated import pipeline for human HPO-to-gene-to-disease annotations
17. [Comparative proteomic analysis of cerebral cortex between middle cerebral artery occlusion rats and normal controls]. Zhao XF, etal., Sheng Wu Gong Cheng Xue Bao. 2005 Nov;21(6):934-41.
Additional References at PubMed
PMID:183954   PMID:211388   PMID:2541064   PMID:2542324   PMID:3024483   PMID:6305188   PMID:7947281   PMID:8125298   PMID:9504408   PMID:10557075   PMID:12124227   PMID:12432079  
PMID:12477932   PMID:12649162   PMID:15489334   PMID:15967462   PMID:16344560   PMID:16714292   PMID:17353931   PMID:18029348   PMID:18404568   PMID:18850517   PMID:19056867   PMID:19165527  
PMID:20152999   PMID:21044950   PMID:21457004   PMID:21555454   PMID:21831515   PMID:21832049   PMID:21873635   PMID:22287021   PMID:22419736   PMID:22637533   PMID:22658674   PMID:22939629  
PMID:23146316   PMID:23376485   PMID:23416111   PMID:23863634   PMID:24495878   PMID:26496610   PMID:30021884   PMID:30918013   PMID:31091453   PMID:31409384   PMID:31444368   PMID:31470122  
PMID:31536960   PMID:32251557   PMID:32416067   PMID:32519744   PMID:33961781   PMID:35271311  


Genomics

Comparative Map Data
AK1
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh389127,866,480 - 127,879,621 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p13 Ensembl9127,866,486 - 127,877,675 (-)EnsemblGRCh38hg38GRCh38
GRCh379130,628,759 - 130,641,900 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 369129,668,580 - 129,679,843 (-)NCBINCBI36hg18NCBI36
Build 349127,708,222 - 127,719,495NCBI
Celera9101,279,601 - 101,290,850 (-)NCBI
Cytogenetic Map9q34.11NCBI
HuRef9100,246,223 - 100,257,472 (-)NCBIHuRef
CHM1_19130,780,691 - 130,791,941 (-)NCBICHM1_1
T2T-CHM13v2.09140,073,895 - 140,087,021 (-)NCBI
Ak1
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39232,511,770 - 32,525,070 (+)NCBIGRCm39mm39
GRCm39 Ensembl232,511,770 - 32,525,070 (+)Ensembl
GRCm38232,621,758 - 32,635,058 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl232,621,758 - 32,635,058 (+)EnsemblGRCm38mm10GRCm38
MGSCv37232,485,024 - 32,490,572 (+)NCBIGRCm37mm9NCBIm37
MGSCv36232,451,513 - 32,457,061 (+)NCBImm8
Celera232,336,146 - 32,341,694 (+)NCBICelera
Cytogenetic Map2BNCBI
cM Map222.09NCBI
Ak1
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.2315,912,431 - 15,923,045 (+)NCBImRatBN7.2
mRatBN7.2 Ensembl315,912,485 - 15,923,041 (+)Ensembl
Rnor_6.0311,652,143 - 11,659,135 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_5.0316,995,977 - 17,002,969 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4219,821,482 - 19,822,544 (+)NCBIRGSC3.4rn4RGSC3.4
RGSC_v3.1219,741,850 - 19,742,913 (+)NCBI
Celera310,656,923 - 10,664,139 (+)NCBICelera
Cytogenetic Map3p11NCBI
Ak1
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_004955419799,410 - 811,029 (+)EnsemblChiLan1.0
ChiLan1.0NW_004955419799,415 - 807,138 (+)NCBIChiLan1.0ChiLan1.0
AK1
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.19127,657,338 - 127,678,245 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl9127,657,338 - 127,678,245 (-)Ensemblpanpan1.1panPan2
Mhudiblu_PPA_v0998,987,348 - 98,997,252 (-)NCBIMhudiblu_PPA_v0panPan3
AK1
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1955,539,179 - 55,548,132 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl955,539,260 - 55,548,132 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha954,737,172 - 54,742,120 (+)NCBI
ROS_Cfam_1.0956,461,156 - 56,477,699 (+)NCBI
ROS_Cfam_1.0 Ensembl956,461,226 - 56,470,095 (+)Ensembl
UMICH_Zoey_3.1955,225,113 - 55,230,060 (+)NCBI
UNSW_CanFamBas_1.0955,539,847 - 55,544,794 (+)NCBI
UU_Cfam_GSD_1.0955,631,318 - 55,636,272 (+)NCBI
Ak1
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_024404947195,739,140 - 195,748,925 (-)NCBI
SpeTri2.0NW_00493648715,507,663 - 15,517,401 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
AK1
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl1268,355,033 - 268,365,598 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.11268,355,032 - 268,365,659 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.21302,278,352 - 302,287,965 (-)NCBISscrofa10.2Sscrofa10.2susScr3
AK1
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.11210,251,793 - 10,261,635 (+)NCBIChlSab1.1chlSab2
ChlSab1.1 Ensembl1210,256,054 - 10,261,465 (+)EnsemblChlSab1.1chlSab2
Vero_WHO_p1.0NW_0236660795,960,893 - 5,972,066 (-)NCBIVero_WHO_p1.0
Ak1
(Heterocephalus glaber - naked mole-rat)
Naked Mole-rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_0046247607,684,109 - 7,693,405 (+)EnsemblHetGla_female_1.0hetGla2
HetGla 1.0NW_0046247607,684,098 - 7,693,051 (+)NCBIHetGla_female_1.0hetGla2

Position Markers
G44718  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh379130,630,138 - 130,630,301UniSTSGRCh37
Build 369129,669,959 - 129,670,122RGDNCBI36
Celera9101,280,980 - 101,281,143RGD
Cytogenetic Map9q34.1UniSTS
HuRef9100,247,602 - 100,247,765UniSTS
SHGC-31625  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh379130,630,020 - 130,630,237UniSTSGRCh37
Build 369129,669,841 - 129,670,058RGDNCBI36
Celera9101,280,862 - 101,281,079RGD
Cytogenetic Map9q34.1UniSTS
HuRef9100,247,484 - 100,247,701UniSTS
TNG Radiation Hybrid Map949419.0UniSTS
SHGC-31174  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh379130,628,793 - 130,628,942UniSTSGRCh37
Build 369129,668,614 - 129,668,763RGDNCBI36
Celera9101,279,635 - 101,279,784RGD
Cytogenetic Map9q34.1UniSTS
HuRef9100,246,257 - 100,246,406UniSTS
GeneMap99-GB4 RH Map9385.31UniSTS
Whitehead-RH Map9470.4UniSTS
D10S16   No map positions available.
D8S1362E  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map9q34.1UniSTS
D10S16  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map3p24.2UniSTS
Cytogenetic Map21q21.3UniSTS
Cytogenetic Map1p36.33UniSTS
Cytogenetic Map16q24.1UniSTS
Cytogenetic Map5q31UniSTS
Cytogenetic Map17p11.2UniSTS
Cytogenetic Map11q24.2UniSTS
Cytogenetic Map5q23.3-q31.1UniSTS
Cytogenetic Map7q32UniSTS
Cytogenetic Map1q21-q23UniSTS
Cytogenetic MapXp11.23UniSTS
Cytogenetic Map2q11.2-q12UniSTS
Cytogenetic Map7p13UniSTS
Cytogenetic Map19q13.4UniSTS
Cytogenetic Map17q25.1UniSTS
Cytogenetic Map1p36.21UniSTS
Cytogenetic Map3p22UniSTS
Cytogenetic Map19p13.2UniSTS
Cytogenetic Map2p12UniSTS
Cytogenetic Map19q13.12UniSTS
Cytogenetic Map9p13.3-p12UniSTS
Cytogenetic Map3p21.1UniSTS
Cytogenetic Map5p13.1UniSTS
Cytogenetic Map14q24.3UniSTS
Cytogenetic Map2p25.2UniSTS
Cytogenetic Map5q21-q22UniSTS
Cytogenetic Map2p22.1UniSTS
Cytogenetic Map1q32.3UniSTS
Cytogenetic Map1p36.11UniSTS
Cytogenetic Map18q12UniSTS
Cytogenetic Map19q13.41UniSTS
Cytogenetic Map17q21UniSTS
Cytogenetic Map3q27.3UniSTS
Cytogenetic Map2q37.3UniSTS
Cytogenetic Map19p13.3UniSTS
Cytogenetic Map2p15UniSTS
Cytogenetic Map20q13.32UniSTS
Cytogenetic Map10q26UniSTS
Cytogenetic Map19q13.3UniSTS
Cytogenetic Map7q21.13UniSTS
Cytogenetic Map1p33UniSTS
Cytogenetic Map1p35.1UniSTS
Cytogenetic Map9q22.3UniSTS
Cytogenetic Map17q11.2UniSTS
Cytogenetic Map12q13.2UniSTS
Cytogenetic Map22q13.31-q13.33UniSTS
Cytogenetic Map1q24.1UniSTS
Cytogenetic Map7q32.2UniSTS
Cytogenetic Map19q13.43UniSTS
Cytogenetic Map1q42.11UniSTS
Cytogenetic Map19p13.11UniSTS
Cytogenetic Map12q24.31UniSTS
Cytogenetic Map19p13.1UniSTS
Cytogenetic Map11q13.5UniSTS
Cytogenetic Map11q24UniSTS
Cytogenetic Map2q11.2-q12.1UniSTS
Cytogenetic Map3q21.2UniSTS
Cytogenetic Map19q13.1UniSTS
Cytogenetic Map19p13UniSTS
Cytogenetic Map8p11.21UniSTS
Cytogenetic Map17p13.2UniSTS
Cytogenetic Map16p13.3UniSTS
Cytogenetic Map20q12UniSTS
Cytogenetic Map2q13UniSTS
Cytogenetic Map5q31.1UniSTS
Cytogenetic Map17q22.2UniSTS
Cytogenetic Map18q21UniSTS
Cytogenetic Map11q14.2UniSTS
Cytogenetic Map16q22.1UniSTS
Cytogenetic Map4q34UniSTS
Cytogenetic Map2p22-p21UniSTS
Cytogenetic Map10q26.3UniSTS
Cytogenetic Map7q22.1UniSTS
Cytogenetic Map11q13.4UniSTS
Cytogenetic Map2q37.1UniSTS
Cytogenetic Map17q21.31UniSTS
Cytogenetic Map1p36.23UniSTS
Cytogenetic Map7p22.2UniSTS
Cytogenetic Map12q24.13UniSTS
Cytogenetic Map8p21.2UniSTS
Cytogenetic Map22q13.33UniSTS
Cytogenetic Map14q32.12UniSTS
Cytogenetic Map2q31.1UniSTS
Cytogenetic Map1p36.31UniSTS
Cytogenetic Map1p32.3UniSTS
Cytogenetic MapXq26.3UniSTS
Cytogenetic Map8p23.1UniSTS
Cytogenetic Map6q13UniSTS
Cytogenetic Map3p21.31UniSTS
Cytogenetic Map9p13.2UniSTS
Cytogenetic Map17q25UniSTS
Cytogenetic Map9q22.2UniSTS
Cytogenetic Map14q32.33UniSTS
Cytogenetic Map1q21.3UniSTS
Cytogenetic Map13q12.11UniSTS
Cytogenetic Map16p13.13UniSTS
Cytogenetic Map11p15.4UniSTS
Cytogenetic Map7q22UniSTS
Cytogenetic Map3q21UniSTS
Cytogenetic Map11q12.3UniSTS
Cytogenetic Map22q13UniSTS
Cytogenetic Map4p16.3UniSTS
Cytogenetic Map11p15.3-p15.1UniSTS
Cytogenetic Map11q13UniSTS
Cytogenetic Map22q11.21UniSTS
Cytogenetic Map10q22.2UniSTS
Cytogenetic Map17p13.3UniSTS
Cytogenetic Map7p22.3UniSTS
Cytogenetic Map3p21UniSTS
Cytogenetic MapXp22.3UniSTS
Cytogenetic Map1q42.3UniSTS
Cytogenetic Map18q11.2UniSTS
Cytogenetic Map6p24.3UniSTS
Cytogenetic Map7q34UniSTS
Cytogenetic Map16p11.2UniSTS
Cytogenetic Map1q25UniSTS
Cytogenetic Map15q11.2UniSTS
Cytogenetic Map19p13.12UniSTS
Cytogenetic Map3q26UniSTS
Cytogenetic Map12p12.1-p11.2UniSTS
Cytogenetic Map11q23.1UniSTS
Cytogenetic Map13q14.11UniSTS
Cytogenetic Map22q13.1UniSTS
Cytogenetic Map7p15.2UniSTS
Cytogenetic Map1q21UniSTS
Cytogenetic Map10q11.22UniSTS
Cytogenetic Map5p12UniSTS
Cytogenetic Map6q21UniSTS
Cytogenetic Map9q21.13UniSTS
Cytogenetic Map5q13.2UniSTS
Cytogenetic Map19q13.2UniSTS
Cytogenetic MapXq23UniSTS
Cytogenetic Map2p21UniSTS
Cytogenetic Map22q11.1UniSTS
Cytogenetic Map16q13UniSTS
Cytogenetic Map16pUniSTS
Cytogenetic Map11q13.2UniSTS
Cytogenetic MapXp11.3UniSTS
Cytogenetic Map1q25.1UniSTS
Cytogenetic Map10q23-q24UniSTS
Cytogenetic Map20p13UniSTS
Cytogenetic Map7q31UniSTS
Cytogenetic Map6q23.3UniSTS
Cytogenetic MapXp22.2UniSTS
Cytogenetic Map9q32UniSTS
Cytogenetic Map1q32.1UniSTS
Cytogenetic Map17q25.3UniSTS
Cytogenetic Map20q11.22UniSTS
Cytogenetic Map4q35.1UniSTS
Cytogenetic Map3q21.3UniSTS
Cytogenetic Map5q12.3UniSTS
Cytogenetic Map6q25.1UniSTS
Cytogenetic Map14q24.1UniSTS
Cytogenetic Map2q33.2UniSTS
Cytogenetic Map20q13.13UniSTS
Cytogenetic Map14q23.2UniSTS
Cytogenetic Map15q24.1UniSTS
Cytogenetic Map3q23UniSTS
Cytogenetic Map8q23.1UniSTS
Cytogenetic Map2q14.3UniSTS
Cytogenetic Map20q13.33UniSTS
Cytogenetic Map21q22.11UniSTS
Cytogenetic Map5p15.1UniSTS
Cytogenetic Map15q13.1UniSTS
Cytogenetic Map15q26.1UniSTS
Cytogenetic Map7q32.1UniSTS
Cytogenetic Map8p21.3UniSTS
Cytogenetic Map1p31.1UniSTS
Cytogenetic Map17qterUniSTS
Cytogenetic Map11q13.1UniSTS
Cytogenetic Map12q22UniSTS
Cytogenetic Map16q22.2UniSTS
Cytogenetic Map14q32UniSTS
Cytogenetic MapXp22.33UniSTS
Cytogenetic MapYp11.32UniSTS
Cytogenetic Map14q24.2UniSTS
Cytogenetic Map3p25.3UniSTS
Cytogenetic Map13q34UniSTS
Cytogenetic Map10p11.23UniSTS
Cytogenetic Map15q15.2UniSTS
Cytogenetic Map8p21.1UniSTS
Cytogenetic Map22q12.2UniSTS
Cytogenetic Map15q22.2UniSTS
Cytogenetic Map15q21UniSTS
Cytogenetic Map6p21.31UniSTS
Cytogenetic Map10q23.1UniSTS
Cytogenetic Map1p36.2UniSTS
Cytogenetic Map2p16.1UniSTS
Cytogenetic Map22q11.2UniSTS
Cytogenetic Map17q23.3UniSTS
Cytogenetic Map12q13.13UniSTS
Cytogenetic Map20q12-q13.12UniSTS
Cytogenetic Map3q26.33UniSTS
Cytogenetic Map5q31.2-q34UniSTS
Cytogenetic Map5q31.2UniSTS
Cytogenetic Map8q24.3UniSTS
Cytogenetic Map5q35.3UniSTS
Cytogenetic MapXq13-q21UniSTS
Cytogenetic Map7q11.23UniSTS
Cytogenetic Map1pter-q31.3UniSTS
Cytogenetic Map15q21.1UniSTS
Cytogenetic Map3q13.33UniSTS
Cytogenetic MapXq13.1UniSTS
Cytogenetic Map3p23-p21UniSTS
Cytogenetic Map11q22-q23UniSTS
Cytogenetic Map1p34.1UniSTS
Cytogenetic Map2q21.1UniSTS
Cytogenetic Map6p21.3UniSTS
Cytogenetic Map7p11.2UniSTS
Cytogenetic Map7p22.1UniSTS
Cytogenetic Map17q21.33UniSTS
Cytogenetic Map14q32.31UniSTS
Cytogenetic Map10q11.21UniSTS
Cytogenetic Map16q22UniSTS
Cytogenetic Map2q24UniSTS
Cytogenetic Map1q23.3UniSTS
Cytogenetic Map3q13.13UniSTS
Cytogenetic Map19p12UniSTS
Cytogenetic Map16p13.1UniSTS
Cytogenetic Map19q13.11UniSTS
Cytogenetic MapXp22.12UniSTS
Cytogenetic Map9q21.33UniSTS
Cytogenetic Map5q32UniSTS
Cytogenetic Map16q11.2UniSTS
Cytogenetic Map10p12.31UniSTS
Cytogenetic Map3q25.33UniSTS
Cytogenetic Map8q21.2UniSTS
Cytogenetic Map10q26.13UniSTS
Cytogenetic Map10q25.3UniSTS
Cytogenetic Map15q14-q15UniSTS
Cytogenetic Map8p11.2UniSTS
Cytogenetic Map1p34.3UniSTS
Cytogenetic Map4p15.2UniSTS
Cytogenetic Map17q12UniSTS
Cytogenetic Map7p15.3UniSTS
Cytogenetic Map7p21.1UniSTS
Cytogenetic Map1p36.32UniSTS
Cytogenetic Map1p36.1-p34UniSTS
Cytogenetic Map4p13UniSTS
Cytogenetic Map7q31.1-q31.2UniSTS
Cytogenetic Map8q22.2UniSTS
Cytogenetic Map15q21.1-q21.2UniSTS
Cytogenetic Map16q21UniSTS
Cytogenetic MapXq12UniSTS
Cytogenetic Map7q36.1UniSTS
Cytogenetic Map7p14.1UniSTS
Cytogenetic Map6p23UniSTS
Cytogenetic Map3p11.1UniSTS
Cytogenetic Map15q21.3UniSTS
Cytogenetic Map13q12UniSTS
Cytogenetic Map12q23.2UniSTS
Cytogenetic Map22q13.2UniSTS
Cytogenetic Map16q22.3UniSTS
Cytogenetic MapXq21UniSTS
Cytogenetic Map15q15UniSTS
Cytogenetic Map4q25UniSTS
Cytogenetic Map3q22.1UniSTS
Cytogenetic Map1q25.2UniSTS
Cytogenetic Map11q14.3UniSTS
Cytogenetic Map10q21.3UniSTS
Cytogenetic Map14q11.2UniSTS
Cytogenetic Map15q24.2UniSTS
Cytogenetic Map2p14UniSTS
Cytogenetic Map7q11.1UniSTS
Cytogenetic Map6p21UniSTS
Cytogenetic Map2p25.1-p24.1UniSTS
Cytogenetic Map16p12.2UniSTS
Cytogenetic Map4q13.3UniSTS
Cytogenetic Map12p11.21UniSTS
Cytogenetic Map18q21.3UniSTS
Cytogenetic Map17p13UniSTS
Cytogenetic Map8q12UniSTS
Cytogenetic Map2q35UniSTS
Cytogenetic Map21q22.13UniSTS
Cytogenetic Map6p21.1UniSTS
Cytogenetic Map17q24.3UniSTS
Cytogenetic Map1p21UniSTS
Cytogenetic MapXq24UniSTS
Cytogenetic Map2q34UniSTS
Cytogenetic Map8p11.23UniSTS
Cytogenetic Map1p36.13UniSTS
Cytogenetic Map9q34.3UniSTS
Cytogenetic Map11q23.3UniSTS
Cytogenetic Map9q33.3UniSTS
Cytogenetic Map16p12UniSTS
Cytogenetic Map2p23.3UniSTS
Cytogenetic Map20q11.23UniSTS
Cytogenetic Map12q15UniSTS
Cytogenetic Map2q12.2UniSTS
Cytogenetic Map8p12UniSTS
Cytogenetic Map7q22.3UniSTS
Cytogenetic Map19q13.42UniSTS
Cytogenetic Map4q35UniSTS
Cytogenetic Map19q13.1-q13.2UniSTS
Cytogenetic Map16p13.12UniSTS
Cytogenetic Map9q34.1UniSTS
Cytogenetic Map7q36.2UniSTS
Cytogenetic Map3p23UniSTS
Cytogenetic Map6p25UniSTS
Cytogenetic Map9q22.1-q22.2UniSTS
Cytogenetic Map3q26.1-q26.2UniSTS
Cytogenetic Map5q31-q34UniSTS
Cytogenetic Map9q34UniSTS
Cytogenetic Map12p13UniSTS
Cytogenetic Map4q26UniSTS
Cytogenetic Map4p15.3UniSTS
Cytogenetic Map2q33.1UniSTS
Cytogenetic Map15q15.1UniSTS
Cytogenetic Map1p32-p31UniSTS
Cytogenetic Map7q36.3UniSTS
Cytogenetic Map4q22.1UniSTS
Cytogenetic Map3q13.2UniSTS
Cytogenetic Map2q33.3UniSTS
Cytogenetic Map8p22UniSTS
Cytogenetic Map22q11.23UniSTS
Cytogenetic Map19q13.32UniSTS
Cytogenetic Map18q21.32UniSTS
Cytogenetic Map15q26.3UniSTS
Cytogenetic Map12q14.2UniSTS
Cytogenetic Map2q31.1-q31.2UniSTS
Cytogenetic Map12q13.11UniSTS
Cytogenetic Map9p13.3UniSTS
Cytogenetic Map9q34.11UniSTS
Cytogenetic Map6p12.3UniSTS
Cytogenetic Map6q22.32UniSTS
Cytogenetic Map5q15UniSTS
Cytogenetic Map3p14.2UniSTS
Cytogenetic Map3p25.1UniSTS
Cytogenetic Map3q27.1UniSTS
Cytogenetic Map2q36.1UniSTS
Cytogenetic Map2q37UniSTS
Cytogenetic Map19q13.31UniSTS
Cytogenetic Map4q23UniSTS
Cytogenetic Map16q24.3UniSTS
Cytogenetic Map15q22.31UniSTS
Cytogenetic Map10q22.1UniSTS
Cytogenetic Map18q11.1UniSTS
Cytogenetic Map16q23.2UniSTS
Cytogenetic Map12q13UniSTS
Cytogenetic Map18q21.1UniSTS
Cytogenetic Map12q12-q13UniSTS
Cytogenetic Map9p22.3UniSTS
Cytogenetic Map6p21.2UniSTS
Cytogenetic Map6p22.1UniSTS
Cytogenetic Map11p15.1UniSTS
Cytogenetic Map19qterUniSTS
Cytogenetic Map20q13.3-qterUniSTS
Cytogenetic Map12q14.1UniSTS
Cytogenetic Map7p11UniSTS
Cytogenetic Map7p15UniSTS
Cytogenetic Map1p13.3UniSTS
Cytogenetic Map16p12.3UniSTS
Cytogenetic Map3q29UniSTS
Cytogenetic Map3p21.3UniSTS
Cytogenetic Map13q14UniSTS
Cytogenetic Map17pUniSTS
Cytogenetic Map11p14.1UniSTS
Cytogenetic Map2p13.2UniSTS
Cytogenetic Map15q25.2UniSTS
Cytogenetic Map10q11.23UniSTS
Cytogenetic Map20q13.12UniSTS
Cytogenetic Map13q22.1UniSTS
Cytogenetic Map17p13.1UniSTS
Cytogenetic Map14q23.3UniSTS
Cytogenetic Map3q26.2UniSTS

miRNA Target Status

Confirmed Target Of
miRNA GeneMature miRNAMethod NameResult TypeData TypeSupport TypePMID
MIR30Ahsa-miR-30a-3pMirecordsexternal_infoNANA19185580

Predicted Target Of
Summary Value
Count of predictions:2503
Count of miRNA genes:836
Interacting mature miRNAs:1007
Transcripts:ENST00000223836, ENST00000373156, ENST00000373176, ENST00000413016, ENST00000550143, ENST00000550992
Prediction methods: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 visual system adipose tissue appendage entire extraembryonic component pharyngeal arch
High
Medium 2278 2668 1491 408 906 247 4088 2147 3675 168 1311 1469 171 1204 2778
Low 160 321 235 216 954 218 267 47 59 250 145 144 4 1 10 4 2
Below cutoff 1 85 2 1 3 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_011792 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_000476 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001318121 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001318122 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017014428 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_024447439 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_024447440 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AB006903 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB021871 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK223501 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK313758 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL157935 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC001116 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC036803 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC100022 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BG772183 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BT019580 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471090 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068269 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CR541977 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CR542004 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CR975542 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA077967 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  EU794628 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  GQ891290 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HY024815 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  J04809 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000223836   ⟹   ENSP00000223836
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl9127,868,001 - 127,873,544 (-)Ensembl
RefSeq Acc Id: ENST00000373156   ⟹   ENSP00000362249
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl9127,867,999 - 127,875,007 (-)Ensembl
RefSeq Acc Id: ENST00000413016
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl9127,867,890 - 127,873,054 (-)Ensembl
RefSeq Acc Id: ENST00000550143   ⟹   ENSP00000449130
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl9127,867,841 - 127,872,713 (-)Ensembl
RefSeq Acc Id: ENST00000550992   ⟹   ENSP00000448741
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl9127,868,463 - 127,877,671 (-)Ensembl
RefSeq Acc Id: ENST00000644144   ⟹   ENSP00000494600
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl9127,866,486 - 127,877,675 (-)Ensembl
RefSeq Acc Id: NM_000476   ⟹   NP_000467
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh389127,866,486 - 127,877,675 (-)NCBI
GRCh379130,628,759 - 130,640,022 (-)ENTREZGENE
GRCh379130,628,759 - 130,640,022 (-)NCBI
Build 369129,668,580 - 129,679,843 (-)NCBI Archive
HuRef9100,246,223 - 100,257,472 (-)ENTREZGENE
CHM1_19130,780,691 - 130,791,941 (-)NCBI
T2T-CHM13v2.09140,073,901 - 140,085,077 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001318121   ⟹   NP_001305050
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh389127,866,480 - 127,879,621 (-)NCBI
CHM1_19130,780,691 - 130,793,817 (-)NCBI
T2T-CHM13v2.09140,073,895 - 140,087,021 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001318122   ⟹   NP_001305051
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh389127,866,486 - 127,873,480 (-)NCBI
CHM1_19130,780,691 - 130,787,746 (-)NCBI
T2T-CHM13v2.09140,073,901 - 140,080,883 (-)NCBI
Sequence:
Reference Sequences
RefSeq Acc Id: NP_000467   ⟸   NM_000476
- Peptide Label: isoform 1
- UniProtKB: Q9UQC7 (UniProtKB/Swiss-Prot),   P00568 (UniProtKB/Swiss-Prot),   Q6FGX9 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001305050   ⟸   NM_001318121
- Peptide Label: isoform 1
- UniProtKB: Q9UQC7 (UniProtKB/Swiss-Prot),   P00568 (UniProtKB/Swiss-Prot),   Q6FGX9 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001305051   ⟸   NM_001318122
- Peptide Label: isoform 2
- UniProtKB: Q5T9B7 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: ENSP00000362249   ⟸   ENST00000373156
RefSeq Acc Id: ENSP00000448741   ⟸   ENST00000550992
RefSeq Acc Id: ENSP00000449130   ⟸   ENST00000550143
RefSeq Acc Id: ENSP00000223836   ⟸   ENST00000223836
RefSeq Acc Id: ENSP00000494600   ⟸   ENST00000644144

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-P00568-F1-model_v2 AlphaFold P00568 1-194 view protein structure

Promoters
RGD ID:7216217
Promoter ID:EPDNEW_H13853
Type:initiation region
Name:AK1_2
Description:adenylate kinase 1
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H13854  
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh389127,874,983 - 127,875,043EPDNEW
RGD ID:7216215
Promoter ID:EPDNEW_H13854
Type:initiation region
Name:AK1_1
Description:adenylate kinase 1
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H13853  
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh389127,877,675 - 127,877,735EPDNEW
RGD ID:6807209
Promoter ID:HG_KWN:65066
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:HeLa_S3,   K562,   Lymphoblastoid,   NB4
Transcripts:ENST00000373157,   NM_000476,   OTTHUMT00000054308
Position:
Human AssemblyChrPosition (strand)Source
Build 369129,679,721 - 129,680,522 (-)MPROMDB

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_000476.3(AK1):c.382C>T (p.Arg128Trp) single nucleotide variant Hemolytic anemia due to adenylate kinase deficiency [RCV000019925] Chr9:127868455 [GRCh38]
Chr9:130630734 [GRCh37]
Chr9:9q34.11
pathogenic
NM_000476.3(AK1):c.319C>T (p.Arg107Ter) single nucleotide variant Hemolytic anemia due to adenylate kinase deficiency [RCV000019926] Chr9:127871828 [GRCh38]
Chr9:130634107 [GRCh37]
Chr9:9q34.11
pathogenic
NM_000476.3(AK1):c.491A>G (p.Tyr164Cys) single nucleotide variant Hemolytic anemia due to adenylate kinase deficiency [RCV000019927] Chr9:127868346 [GRCh38]
Chr9:130630625 [GRCh37]
Chr9:9q34.11
pathogenic
NM_000476.3(AK1):c.118G>A (p.Gly40Arg) single nucleotide variant Hemolytic anemia due to adenylate kinase deficiency [RCV000019928] Chr9:127872779 [GRCh38]
Chr9:130635058 [GRCh37]
Chr9:9q34.11
pathogenic
NM_000476.3(AK1):c.190G>A (p.Gly64Arg) single nucleotide variant Hemolytic anemia due to adenylate kinase deficiency [RCV000019929] Chr9:127872707 [GRCh38]
Chr9:130634986 [GRCh37]
Chr9:9q34.11
pathogenic
NM_000476.3(AK1):c.418GAC[1] (p.Asp141del) microsatellite Hemolytic anemia due to adenylate kinase deficiency [RCV000019930] Chr9:127868414..127868416 [GRCh38]
Chr9:130630693..130630695 [GRCh37]
Chr9:9q34.11
pathogenic
NM_000476.3(AK1):c.139del (p.Val47fs) deletion Hemolytic anemia due to adenylate kinase deficiency [RCV000019931] Chr9:127872758 [GRCh38]
Chr9:130635037 [GRCh37]
Chr9:9q34.11
pathogenic
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(chr9:122792658-138124532)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 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 9q33.3-34.11(chr9:125993583-129682375)x1 copy number loss See cases [RCV000052923] Chr9:125993583..129682375 [GRCh38]
Chr9:128755862..132444654 [GRCh37]
Chr9:127795683..131484475 [NCBI36]
Chr9:9q33.3-34.11
pathogenic
GRCh38/hg38 9q34.11(chr9:127874581-130421811)x1 copy number loss See cases [RCV000052934] Chr9:127874581..130421811 [GRCh38]
Chr9:130636860..133297198 [GRCh37]
Chr9:129676681..132287019 [NCBI36]
Chr9:9q34.11
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 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(chr9:193412-138114463)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 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 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 9q33.3-34.11(chr9:125055865-128637946)x1 copy number loss See cases [RCV000137787] Chr9:125055865..128637946 [GRCh38]
Chr9:127818144..131400225 [GRCh37]
Chr9:126857965..130440046 [NCBI36]
Chr9:9q33.3-34.11
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 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(chr9:193412-138159073)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 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
NM_000476.3(AK1):c.301C>A (p.Gln101Lys) single nucleotide variant Adenylate kinase deficiency [RCV001526690]|Hemolytic anemia due to adenylate kinase deficiency [RCV001506969] Chr9:127871846 [GRCh38]
Chr9:130634125 [GRCh37]
Chr9:9q34.11
pathogenic
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 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 9q33.3-34.11(chr9:129079208-130851795)x1 copy number loss See cases [RCV000447376] Chr9:129079208..130851795 [GRCh37]
Chr9:9q33.3-34.11
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
NM_000476.3(AK1):c.484G>A (p.Ala162Thr) single nucleotide variant Hemolytic anemia due to adenylate kinase deficiency [RCV001803695]|not provided [RCV000442261] Chr9:127868353 [GRCh38]
Chr9:130630632 [GRCh37]
Chr9:9q34.11
likely benign
GRCh37/hg19 9q34.11(chr9:130390139-132760275)x1 copy number loss See cases [RCV000445837] Chr9:130390139..132760275 [GRCh37]
Chr9:9q34.11
pathogenic
GRCh37/hg19 9q34.11(chr9:130616981-130636569)x3 copy number gain See cases [RCV000448729] Chr9:130616981..130636569 [GRCh37]
Chr9:9q34.11
benign
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
NM_000476.3(AK1):c.367G>C (p.Glu123Gln) single nucleotide variant Hemolytic anemia due to adenylate kinase deficiency [RCV000755798]|not provided [RCV001672750]|not specified [RCV000455455] Chr9:127868470 [GRCh38]
Chr9:130630749 [GRCh37]
Chr9:9q34.11
benign
NM_000476.3(AK1):c.477T>C (p.Pro159=) single nucleotide variant Hemolytic anemia due to adenylate kinase deficiency [RCV000508025]|not provided [RCV002056902] Chr9:127868360 [GRCh38]
Chr9:130630639 [GRCh37]
Chr9:9q34.11
benign
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(chr9:10590-141122247)x3 copy number gain not provided [RCV000748055] Chr9:10590..141122247 [GRCh37]
Chr9:9p24.3-q34.3
pathogenic
GRCh37/hg19 9q33.3-34.12(chr9:129370440-133866894)x1 copy number loss not provided [RCV000748671] Chr9:129370440..133866894 [GRCh37]
Chr9:9q33.3-34.12
pathogenic
GRCh37/hg19 9q33.3-34.11(chr9:129522693-131410039)x1 copy number loss not provided [RCV000748677] Chr9:129522693..131410039 [GRCh37]
Chr9:9q33.3-34.11
benign
GRCh37/hg19 9q34.11(chr9:130622946-130636558)x3 copy number gain not provided [RCV000748682] Chr9:130622946..130636558 [GRCh37]
Chr9:9q34.11
benign
GRCh37/hg19 9q34.11(chr9:130631519-130645262)x3 copy number gain not provided [RCV000748683] Chr9:130631519..130645262 [GRCh37]
Chr9:9q34.11
benign
GRCh37/hg19 9q34.11(chr9:130633142-130634220)x1 copy number loss not provided [RCV000748684] Chr9:130633142..130634220 [GRCh37]
Chr9:9q34.11
benign
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
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
NM_000476.3(AK1):c.186G>A (p.Glu62=) single nucleotide variant Hemolytic anemia due to adenylate kinase deficiency [RCV000999830]|not provided [RCV000755799] Chr9:127872711 [GRCh38]
Chr9:130634990 [GRCh37]
Chr9:9q34.11
benign
NM_000476.3(AK1):c.102C>T (p.Tyr34=) single nucleotide variant Hemolytic anemia due to adenylate kinase deficiency [RCV001804077]|not provided [RCV000906408] Chr9:127872795 [GRCh38]
Chr9:130635074 [GRCh37]
Chr9:9q34.11
benign|likely benign
NC_000009.12:g.(?_127612384)_(128566997_?)del deletion Early infantile epileptic encephalopathy with suppression bursts [RCV000819894]|Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome [RCV001387712] Chr9:127612384..128566997 [GRCh38]
Chr9:130374663..131329276 [GRCh37]
Chr9:9q34.11
pathogenic|uncertain significance
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
NC_000009.11:g.(?_130216797)_(130953151_?)dup duplication Congenital muscular dystrophy with intellectual disability and severe epilepsy [RCV000821291] Chr9:127454518..128190872 [GRCh38]
Chr9:130216797..130953151 [GRCh37]
Chr9:9q33.3-34.11
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
NM_000476.3(AK1):c.324+203C>G single nucleotide variant not provided [RCV001639073] Chr9:127871620 [GRCh38]
Chr9:130633899 [GRCh37]
Chr9:9q34.11
benign
NM_000476.3(AK1):c.231G>A (p.Arg77=) single nucleotide variant not provided [RCV000910377] Chr9:127871916 [GRCh38]
Chr9:130634195 [GRCh37]
Chr9:9q34.11
likely benign
NM_000476.3(AK1):c.325-9C>T single nucleotide variant Hemolytic anemia due to adenylate kinase deficiency [RCV001804111]|not provided [RCV000957139] Chr9:127868521 [GRCh38]
Chr9:130630800 [GRCh37]
Chr9:9q34.11
benign|likely benign
NM_000476.3(AK1):c.395G>A (p.Arg132His) single nucleotide variant not provided [RCV001531115] Chr9:127868442 [GRCh38]
Chr9:130630721 [GRCh37]
Chr9:9q34.11
likely pathogenic
NM_000476.3(AK1):c.*54C>A single nucleotide variant not provided [RCV001621339] Chr9:127867954 [GRCh38]
Chr9:130630233 [GRCh37]
Chr9:9q34.11
benign
NM_000476.3(AK1):c.207+25A>G single nucleotide variant not provided [RCV001673526] Chr9:127872665 [GRCh38]
Chr9:130634944 [GRCh37]
Chr9:9q34.11
benign
NM_000476.3(AK1):c.324+198A>C single nucleotide variant not provided [RCV001595269] Chr9:127871625 [GRCh38]
Chr9:130633904 [GRCh37]
Chr9:9q34.11
benign
NM_000476.3(AK1):c.90G>T (p.Gln30His) single nucleotide variant Hemolytic anemia due to adenylate kinase deficiency [RCV001002561] Chr9:127872807 [GRCh38]
Chr9:130635086 [GRCh37]
Chr9:9q34.11
uncertain significance
NM_000476.3(AK1):c.-32-303del deletion not provided [RCV001709301] Chr9:127874952 [GRCh38]
Chr9:130637231 [GRCh37]
Chr9:9q34.11
benign
NM_000476.3(AK1):c.530G>T (p.Gly177Val) single nucleotide variant Hemolytic anemia due to adenylate kinase deficiency [RCV001002501] Chr9:127868063 [GRCh38]
Chr9:130630342 [GRCh37]
Chr9:9q34.11
uncertain significance
NM_000476.3(AK1):c.517-75T>C single nucleotide variant not provided [RCV001679077] Chr9:127868151 [GRCh38]
Chr9:130630430 [GRCh37]
Chr9:9q34.11
benign
NC_000009.12:g.(?_127815672)_(128541180_?)del deletion not provided [RCV001032461] Chr9:130577951..131303459 [GRCh37]
Chr9:9q34.11
pathogenic
NM_000476.3(AK1):c.516+11C>A single nucleotide variant Hemolytic anemia due to adenylate kinase deficiency [RCV001001845]|not provided [RCV002068779] Chr9:127868310 [GRCh38]
Chr9:130630589 [GRCh37]
Chr9:9q34.11
benign
GRCh37/hg19 9q34.11(chr9:130412438-131423964)x1 copy number loss Infantile epilepsy syndrome [RCV001265154] Chr9:130412438..131423964 [GRCh37]
Chr9:9q34.11
pathogenic
GRCh37/hg19 9q33.3-34.11(chr9:128512347-130702572)x1 copy number loss Developmental and epileptic encephalopathy, 4 [RCV001263247] Chr9:128512347..130702572 [GRCh37]
Chr9:9q33.3-34.11
pathogenic
NC_000009.11:g.(?_130577951)_(130700109_?)del deletion Hereditary hemorrhagic telangiectasia [RCV001383142] Chr9:130577951..130700109 [GRCh37]
Chr9:9q34.11
pathogenic
NC_000009.11:g.(?_130374663)_(131329276_?)del deletion Early infantile epileptic encephalopathy with suppression bursts [RCV001304269] Chr9:130374663..131329276 [GRCh37]
Chr9:9q34.11
uncertain significance
NC_000009.11:g.(?_129376729)_(131016993_?)del deletion Developmental and epileptic encephalopathy, 31 [RCV001364955]|Early infantile epileptic encephalopathy with suppression bursts [RCV001383155] Chr9:129376729..131016993 [GRCh37]
Chr9:9q33.3-34.11
pathogenic|uncertain significance
NC_000009.11:g.(?_130216797)_(130953151_?)dup duplication Congenital disorder of glycosylation type 1u [RCV001323033] Chr9:130216797..130953151 [GRCh37]
Chr9:9q33.3-34.11
uncertain significance
NM_000476.3(AK1):c.8-200T>C single nucleotide variant not provided [RCV001672091] Chr9:127873261 [GRCh38]
Chr9:130635540 [GRCh37]
Chr9:9q34.11
benign
NM_000476.3(AK1):c.516+11C>T single nucleotide variant Hemolytic anemia due to adenylate kinase deficiency [RCV002227307] Chr9:127868310 [GRCh38]
Chr9:130630589 [GRCh37]
Chr9:9q34.11
likely benign
GRCh37/hg19 9q33.3-34.11(chr9:128523763-132604808)x3 copy number gain not provided [RCV001832977] Chr9:128523763..132604808 [GRCh37]
Chr9:9q33.3-34.11
pathogenic
NM_000476.3(AK1):c.85G>A (p.Val29Met) single nucleotide variant not provided [RCV001753924] Chr9:127872812 [GRCh38]
Chr9:130635091 [GRCh37]
Chr9:9q34.11
uncertain significance
NM_000476.3(AK1):c.517-18C>T single nucleotide variant Hemolytic anemia due to adenylate kinase deficiency [RCV001802452]|not provided [RCV002074162] Chr9:127868094 [GRCh38]
Chr9:130630373 [GRCh37]
Chr9:9q34.11
benign
NM_000476.3(AK1):c.8-376C>T single nucleotide variant Hemolytic anemia due to adenylate kinase deficiency [RCV001802438] Chr9:127873437 [GRCh38]
Chr9:130635716 [GRCh37]
Chr9:9q34.11
likely benign
NM_000476.3(AK1):c.522C>T (p.Asn174=) single nucleotide variant Hemolytic anemia due to adenylate kinase deficiency [RCV001802488] Chr9:127868071 [GRCh38]
Chr9:130630350 [GRCh37]
Chr9:9q34.11
likely benign
NM_000476.3(AK1):c.44-16G>A single nucleotide variant Hemolytic anemia due to adenylate kinase deficiency [RCV001802623] Chr9:127872869 [GRCh38]
Chr9:130635148 [GRCh37]
Chr9:9q34.11
likely benign
GRCh37/hg19 9p24.3-q34.3(chr9:353349-141020389) copy number gain not specified [RCV002053823] Chr9:353349..141020389 [GRCh37]
Chr9:9p24.3-q34.3
pathogenic
GRCh37/hg19 9q32-34.11(chr9:116422275-131713233) copy number gain not specified [RCV002052831] Chr9:116422275..131713233 [GRCh37]
Chr9:9q32-34.11
pathogenic
GRCh37/hg19 9q33.3-34.11(chr9:129079208-130851795) copy number loss not specified [RCV002052846] Chr9:129079208..130851795 [GRCh37]
Chr9:9q33.3-34.11
pathogenic
GRCh37/hg19 9q34.11(chr9:130390139-132760275) copy number loss not specified [RCV002052848] Chr9:130390139..132760275 [GRCh37]
Chr9:9q34.11
pathogenic
NC_000009.11:g.(?_130216807)_(130700099_?)dup duplication Congenital muscular dystrophy with intellectual disability and severe epilepsy [RCV001920331] Chr9:130216807..130700099 [GRCh37]
Chr9:9q33.3-34.11
uncertain significance
NC_000009.11:g.(?_130216807)_(130953136_?)del deletion Congenital muscular dystrophy with intellectual disability and severe epilepsy [RCV001972646] Chr9:130216807..130953136 [GRCh37]
Chr9:9q33.3-34.11
pathogenic
NM_000476.3(AK1):c.288G>A (p.Pro96=) single nucleotide variant not provided [RCV002110704] Chr9:127871859 [GRCh38]
Chr9:130634138 [GRCh37]
Chr9:9q34.11
likely benign
NM_000476.3(AK1):c.43+20G>A single nucleotide variant not provided [RCV002194915] Chr9:127873006 [GRCh38]
Chr9:130635285 [GRCh37]
Chr9:9q34.11
likely benign
NM_000476.3(AK1):c.246C>G (p.Ala82=) single nucleotide variant not provided [RCV002180595] Chr9:127871901 [GRCh38]
Chr9:130634180 [GRCh37]
Chr9:9q34.11
benign
NM_000476.3(AK1):c.8-9C>T single nucleotide variant not provided [RCV002261876] Chr9:127873070 [GRCh38]
Chr9:130635349 [GRCh37]
Chr9:9q34.11
uncertain significance

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:361 AgrOrtholog
COSMIC AK1 COSMIC
Ensembl Genes ENSG00000106992 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Protein ENSP00000223836 ENTREZGENE
  ENSP00000223836.10 UniProtKB/TrEMBL
  ENSP00000362249.1 UniProtKB/Swiss-Prot
  ENSP00000448741.1 UniProtKB/TrEMBL
  ENSP00000449130.1 UniProtKB/TrEMBL
  ENSP00000494600 ENTREZGENE
  ENSP00000494600.1 UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000223836 ENTREZGENE
  ENST00000223836.10 UniProtKB/TrEMBL
  ENST00000373156.5 UniProtKB/Swiss-Prot
  ENST00000550143.5 UniProtKB/TrEMBL
  ENST00000550992.1 UniProtKB/TrEMBL
  ENST00000644144 ENTREZGENE
  ENST00000644144.2 UniProtKB/Swiss-Prot
Gene3D-CATH 3.40.50.300 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000106992 GTEx
HGNC ID HGNC:361 ENTREZGENE
Human Proteome Map AK1 Human Proteome Map
InterPro Adenylat/UMP-CMP_kin UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Adenylat_kinase_CS UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  AK1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  AK1/5 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  P-loop_NTPase UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:203 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
NCBI Gene 203 ENTREZGENE
OMIM 103000 OMIM
  612631 OMIM
PANTHER PTHR23359 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA24655 PharmGKB
PRINTS ADENYLTKNASE UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PROSITE ADENYLATE_KINASE UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF52540 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
TIGRFAMs aden_kin_iso1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt F8VRY5_HUMAN UniProtKB/TrEMBL
  H0YID2_HUMAN UniProtKB/TrEMBL
  KAD1_HUMAN UniProtKB/Swiss-Prot, ENTREZGENE
  Q5T9B7 ENTREZGENE, UniProtKB/TrEMBL
  Q6FGX9 ENTREZGENE, UniProtKB/TrEMBL
  Q9UQC7 ENTREZGENE
UniProt Secondary Q9BVK9 UniProtKB/Swiss-Prot
  Q9UQC7 UniProtKB/Swiss-Prot