Gene
AKT1
AKT serine/threonine kinase 1
- HGNC 391↗(opens in a new tab)
- Ensembl gene ENSG00000142208↗(opens in a new tab)
- NCBI Gene 207↗(opens in a new tab)
Summary
- Cytogenetic location
- 14q32.33
- Coordinates
- Chromosome 14: 104,769,349–104,795,748 (GRCh38)
- Exons
- 15 exons across 26.4 kb
- Protein
- 480 amino acids
- Inheritance
- Autosomal dominant
- Also known as
- RAC, PKB, PRKBA, AKT, RAC-alpha
- MANE Select transcript
- ENST00000649815.2NM_001382430.1
- Locus type
- gene with protein product
- Very high
- Confident
- Low
- Very low
Reference genomeGRCh38hg38
Positions on gene and variant pages follow this choice, in this browser.
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Cowden Syndrome (PTEN hamartoma tumour syndrome)
- PTEN hamartoma tumour syndromeAutosomal dominant
The spectrum of PTEN-related conditions, including Cowden and Bannayan-Riley-Ruvalcaba syndromes, with hamartomas and raised risks of breast, thyroid, endometrial, kidney and other cancers.
- 3 GenCC submitters rate it definitive or strong
What knowing changes
Regular breast, thyroid, endometrial, kidney, bowel and skin surveillance, and testing of relatives.
Inheritance
- Autosomal dominant
- One changed copy, from either parent, is enough. A parent who has one passes it on to each child with a one-in-two chance.
How AKT1 is laid out
- Coding sequence
- Untranslated region
- Intron
- Direction of transcription
- Known disease-causing sites
- Stretches short reads find hard
Exons of the gene's MANE Select transcript (release v1.5), from NCBI and EMBL-EBI, on the GRCh38 reference genome.
Chromosome bands from UCSC's GRCh38 ideogram (2022-10-29).
Nearby genes from Ensembl release 116, on GRCh38.
Exons make up 3 kb of the gene's 26.4 kb; 1,443 of those bases code for the protein.
How a genome test reads AKT1
3
positions in AKT1 where ClinVar classes a change as pathogenic or likely pathogenic
None of them falls in a region short reads find hard.
A whole genome covers all 26.4 kb of AKT1, introns included, not only the 3 kb of exons.
Genes linked to the same conditions
Traits linked to AKT1
The Human Phenotype Ontology lists these as features of the rare conditions AKT1 can cause. Each trait's page lists the other genes linked to it.
Abnormality of the nervous system
- Intracranial meningioma
- Abnormal brain FDG positron emission tomography
- Epilepsy
- Focal T2 hypointense thalamic lesion
- Headache
- Seizure affecting one half of brain
- Abnormal central motor function
- Abnormal central sensory function
Show 23 more traits
- Abnormal gait
- Abnormality of the cerebellum
- Ataxia
- Cognitive impairment
- Cranial nerve paralysis
- Gray matter heterotopia
- Intellectual disability
- Memory impairment
- Noncancerous growth of membranes covering brain
- Rise in pressure inside skull
- Spinal meningioma
- Too much cerebrospinal fluid in the brain
- Trigeminal neuralgia
- Tumors of the central nervous system
- Weakness of one side of body
- Abnormal speech pattern
- Brain stem compression
- Can't control feelings
- Excessive daytime sleepiness
- Spasms on one side of the face
- Transient global amnesia
- IQ between 34 and 49
- Pressure on spinal cord
Abnormality of head or neck
- Enlargement of skull bones
- Long, narrow head
- Overgrowth of skullcap
- Round face
- Abnormal tooth enamel
- Abnormality of the neck
- Abnormality of the sense of smell
- Bell's palsy
Show 17 more traits
- Big calvaria
- Decreased number of teeth
- Deformity of the skull
- Dental cavities
- Depressed nasal bridge
- Downward slanting of the opening between the eyelids
- Facial asymmetry
- Long face
- Nasal tip, upturned
- Open mouth
- Retinal hamartoma
- Salivary basal cell adenoma
- Thick nasal alae
- Neoplasm of the tongue
- Benign eye tumor
- Enlargement of facial bones
- Thick lower jaw bone
Abnormality of the endocrine system
- Decreased circulating ACTH concentration
- Decreased circulating follicle stimulating hormone concentration
- Decreased circulating luteinizing hormone level
- Decreased serum estradiol
- Decreased serum testosterone level
- Hypogonadotropic hypogonadism
- Increased circulating prolactin concentration
- Low blood cortisol level
Show 11 more traits
- Low thyroid gland function due to abnormal pituitary gland
- Secondary growth hormone deficiency
- Thyroid carcinoma
- Thyroid nodule
- Abnormal hypothalamus physiology
- Diabetes insipidus
- Enlarged pituitary gland
- Hypothalamic hypothyroidism
- Neoplasm of the anterior pituitary
- Reduced circulating prolactin concentration
- Neoplasm of the posterior pituitary
External links
Gene records
Transcript
Protein
Where this comes from
- HGNC: the gene's symbol, name, other symbols and location.
- MANE Select v1.5, from NCBI and EMBL-EBI: the transcript, its exons and coding sequence.
- GenCC and ClinGen, released 2026-10-16: which conditions the gene is linked to, and how strongly.
- The ACMG secondary findings list, SF v3.2.
- ClinVar and the GIAB stratifications: known disease-causing sites, and the regions short reads find hard.
- The Human Phenotype Ontology, release 2026-09-01: the traits linked to the gene. Find out more at hpo.jax.org.
- Data release 2026.10.16-c6eea6bf.
Cite this page
Dante Labs. (n.d.). AKT1 gene: AKT serine/threonine kinase 1. Retrieved 16 October 2026, from https://dantelabs.com/genes/akt1
Dante Labs. AKT1 gene: AKT serine/threonine kinase 1 [Internet]. [cited 16 October 2026]. Available from: https://dantelabs.com/genes/akt1
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