Seroatlas · Human Serome Atlas

AK3

GTP:AMP phosphotransferase AK3, mitochondrial

Also known as: AK3L1, AK6, AKL3L1, KAD3_HUMAN

Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene

Protein identityUniProt · HPA

UniProt accession: Q9UIJ7
Gene: AK3
Ensembl: ENSG00000147853
Chromosome: 9
Canonical length: 227 aa
Protein class: Enzymes, Metabolic proteins, Plasma proteins, Predicted intracellular proteins
Subcellular location: Mitochondria

OverviewNCBI Gene

The protein encoded by this gene is a GTP:ATP phosphotransferase that is found in the mitochondrial matrix. Several transcript variants encoding a few different isoforms have been found for this gene. [provided by RefSeq, Dec 2010]

Canonical amino-acid sequenceUniProt

227 residues, UniProt reviewed canonical sequence.

>Q9UIJ7|AK3
     1  MGASARLLRA VIMGAPGSGK GTVSSRITTH FELKHLSSGD LLRDNMLRGT EIGVLAKAFI
    61  DQGKLIPDDV MTRLALHELK NLTQYSWLLD GFPRTLPQAE ALDRAYQIDT VINLNVPFEV
   121  IKQRLTARWI HPASGRVYNI EFNPPKTVGI DDLTGEPLIQ REDDKPETVI KRLKAYEDQT
   181  KPVLEYYQKK GVLETFSGTE TNKIWPYVYA FLQTKVPQRS QKASVTP

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against AK3 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): 0.29
Highest tissue expression: 228 nTPM

Expression across tissuesHPA

Tissue

skeletal muscle: 228 nTPM
liver: 187 nTPM
tongue: 149 nTPM
kidney: 95 nTPM
heart muscle: 94 nTPM
adipose tissue: 71 nTPM

Single-cell type

parietal cells: 591 nCPM
syncytiotrophoblasts: 421 nCPM
distal convoluted tubule cells: 412 nCPM
hepatocytes: 392 nCPM
choroid plexus epithelial cells: 323 nCPM
loop of henle epithelial cells: 265 nCPM

Immune cell

eosinophil: 32 nTPM
T-reg: 32 nTPM
naive CD8 T-cell: 29 nTPM
naive CD4 T-cell: 29 nTPM
gdT-cell: 28 nTPM
NK-cell: 28 nTPM

Brain region

choroid plexus: 115 nTPM
hypothalamus: 82 nTPM
thalamus: 78 nTPM
midbrain: 77 nTPM
basal ganglia: 72 nTPM
white matter: 70 nTPM

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): 1.39
gnomAD pLI: 0
gnomAD missense Z: -1.97
DepMap mean gene effect: -0.02
DepMap dependency class: none

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 5% 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
blood coagulation
GTP metabolic process
nucleoside triphosphate biosynthetic process
ITP metabolic process
UTP metabolic process

Molecular functions

Cellular components

Protein domainsUniProt · Pfam · InterPro

KeywordsUniProt

Antibody and autoantibody relevanceSeroatlas analysis

Seroatlas reads AK3 as an antibody target. Whether an autoantibody or antibody against AK3 could matter depends on whether native AK3 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

AK3 is annotated as predominantly intracellular. Intracellular proteins are common autoantibody markers, becoming visible to the immune system after cell injury or altered processing, but are usually markers of disease rather than direct drivers.

Annotation status

The present source text does not explicitly label AK3 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

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