AKT1 |
- 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)