AK7 (adenylate kinase 7)

2006-10-01  

Identity

HGNC
LOCATION
14q32.2
LOCUSID
ALIAS
AK
FUSION GENES

Other Information

Locus ID:

NCBI: 122481
MIM: 615364
HGNC: 20091
Ensembl: ENSG00000140057

Variants:

dbSNP: 122481
ClinVar: 122481
TCGA: ENSG00000140057
COSMIC: AK7

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000140057ENST00000267584Q96M32
ENSG00000140057ENST00000554706H0YIY5
ENSG00000140057ENST00000555570G3V365

Expression (GTEx)

0
1
2
3
4
5
6
7
8

Pathways

PathwaySourceExternal ID
Purine metabolismKEGGko00230
Thiamine metabolismKEGGko00730
Purine metabolismKEGGhsa00230
Thiamine metabolismKEGGhsa00730
Metabolic pathwaysKEGGhsa01100
Adenine ribonucleotide biosynthesis, IMP => ADP,ATPKEGGM00049
Adenine ribonucleotide biosynthesis, IMP => ADP,ATPKEGGhsa_M00049
MetabolismREACTOMER-HSA-1430728
Metabolism of nucleotidesREACTOMER-HSA-15869
Synthesis and interconversion of nucleotide di- and triphosphatesREACTOMER-HSA-499943

Protein levels (Protein atlas)

Not detected
Low
Medium
High

References

Pubmed IDYearTitleCitations
203796142010Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.62
210809152011The characterization of human adenylate kinases 7 and 8 demonstrates differences in kinetic parameters and structural organization among the family of adenylate kinase isoenzymes.10
293651042018Homozygous missense mutation L673P in adenylate kinase 7 (AK7) leads to primary male infertility and multiple morphological anomalies of the flagella but not to primary ciliary dyskinesia.10
205372832010Role of adenylate kinase type 7 expression on cilia motility: possible link in primary ciliary dyskinesia.6
228010102012New adenylate kinase 7 (AK7) mutation in primary ciliary dyskinesia.5
322515572019[Expressions of the adenylate kinase family in asthenospermia].0

Citation

Dessen P

AK7 (adenylate kinase 7)

Atlas Genet Cytogenet Oncol Haematol. 2006-10-01

Online version: http://atlasgeneticsoncology.org/gene/43114/ak7