• 0
    Haplo
    Score
  • 0
    Triplo
    Score

Gene Facts External Data Attribution

HGNC Symbol
AKT1 (HGNC:391) HGNC Entrez Ensembl OMIM UCSC Uniprot GeneReviews LOVD LSDB ClinVar
HGNC Name
AKT serine/threonine kinase 1
Gene type
protein-coding gene
Locus type
gene with protein product
Previous symbols
No previous names found
Alias symbols
RAC, PKB, PRKBA, AKT, RAC-alpha
%HI
0.05(Read more about the DECIPHER Haploinsufficiency Index)
pLI
0.98(Read more about gnomAD pLI score)
LOEUF
0.32(Read more about gnomAD LOEUF score)
Cytoband
14q32.33
Genomic Coordinates
GRCh37/hg19: chr14:105235686-105262085 NCBI Ensembl UCSC
GRCh38/hg38: chr14:104769349-104795748 NCBI Ensembl UCSC
MANE Select Transcript
NM_001382430.1 ENST00000649815.2 (Read more about MANE Select)
Function
AKT1 is one of 3 closely related serine/threonine-protein kinases (AKT1, AKT2 and AKT3) called the AKT kinase, and which regulate many processes including metabolism, proliferation, cell survival, growth and angiogenesis (PubMed:15861136, PubMed:15526160, PubMed:11882383, PubMed:21620960, PubMed:21432781, PubMed:31204173). This is mediated through serine and/or threonine phosphorylation of a range of downstream substrates (PubMed:15526160, PubMed:11882383, PubMed:21620960, PubMed:21432781, PubMe... (Source: Uniprot)

Dosage Sensitivity Summary (Gene)

Dosage ID:
ISCA-686
Curation Status:
Complete
Issue Type:
Dosage Curation - Gene
Haploinsufficiency:
No Evidence for Haploinsufficiency (0)
Triplosensitivity:
No Evidence for Triplosensitivity (0)
Last Evaluated:
01/25/2022

Haploinsufficiency (HI) Score Details

HI Score:
0
HI Evidence Strength:
No Evidence for Haploinsufficiency (Disclaimer)
HI Evidence Comments:
As of January 2022, no evidence for dosage sensitivity of this gene was identified.

Triplosensitivity (TS) Score Details

TS Score:
0
TS Evidence Strength:
No Evidence for Triplosensitivity (Disclaimer)
TS Evidence Comments:
As of January 2022, no evidence for dosage sensitivity of this gene was identified.

Genomic View

Select assembly: (NC_000014.8) (NC_000014.9)