AK1

Protein identityUniProt · HPA

UniProt accession

P00568

Gene

AK1

Ensembl

ENSG00000106992

Chromosome

9

Canonical length

194 aa

Protein class

Disease related genes, Enzymes, Human disease related genes, Metabolic proteins, Plasma proteins, Potential drug targets, Predicted intracellular proteins

Subcellular location

Cytosol,Annulus

OverviewNCBI Gene

This gene encodes an adenylate kinase enzyme involved in energy metabolism and homeostasis of cellular adenine nucleotide ratios in different intracellular compartments. This gene is highly expressed in skeletal muscle, brain and erythrocytes. Certain mutations in this gene resulting in a functionally inadequate enzyme are associated with a rare genetic disorder causing nonspherocytic hemolytic anemia. Alternative splicing of this gene results in multiple transcript variants encoding different isoforms. This gene shares readthrough transcripts with the upstream ST6GALNAC6 gene. [provided by RefSeq, Jan 2022]

Canonical amino-acid sequenceUniProt

194 residues, UniProt reviewed canonical sequence.

>P00568|AK1
     1  MEEKLKKTKI IFVVGGPGSG KGTQCEKIVQ KYGYTHLSTG DLLRSEVSSG SARGKKLSEI
    61  MEKGQLVPLE TVLDMLRDAM VAKVNTSKGF LIDGYPREVQ QGEEFERRIG QPTLLLYVDA
   121  GPETMTQRLL KRGETSGRVD DNEETIKKRL ETYYKATEPV IAFYEKRGIV RKVNAEGSVD
   181  SVFSQVCTHL DALK

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against AK1 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.

Antibody reachability

Intracellular

Secreted

No

Transmembrane segments

0

Mean surface accessibility (rSASA)

0.26

Highest tissue expression

1,263 nTPM

Expression across tissuesHPA

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about AK1.

Disease | AllUniProt

Conditions AK1 is implicated in, by any mechanism.

• Anemia, congenital, non-spherocytic hemolytic, 3 (CNSHA3) MIM:612631

Disease | GeneticClinVar

11 pathogenic / likely-pathogenic of 107 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

• Hemolytic anemia due to adenylate kinase deficiency
• Hepatocellular carcinoma
• Adenylate kinase deficiency

Genetic constraint and essentialitygnomAD · DepMap

Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.

gnomAD LOEUF (loss-of-function intolerance)

0.94

gnomAD pLI

0.03

gnomAD missense Z

0.65

DepMap mean gene effect

-0.18

DepMap dependency class

selective

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 4% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

• ADP biosynthetic process
• AMP metabolic process
• ATP metabolic process
• nucleobase-containing small molecule interconversion
• nucleoside triphosphate biosynthetic process

Molecular functions

• AMP kinase activity
• ATP binding
• dAMP kinase activity
• nucleoside diphosphate kinase activity

Cellular components

• cytoplasm
• cytosol
• extracellular exosome
• outer dense fiber

Protein domainsUniProt · Pfam · InterPro

• Adenylate kinase/UMP-CMP kinase
• Adenylate kinase, isozyme 1/5
• P-loop containing nucleoside triphosphate hydrolase
• Adenylate kinase, conserved site
• Adenylate kinase
• Adenylate kinase isoenzyme 1

KeywordsUniProt

• Acetylation
• ATP-binding
• Cytoplasm
• Hereditary hemolytic anemia
• Kinase
• Nucleotide-binding
• Phosphoprotein
• Transferase