1. Gene
  2. AKT1S1 - AKT1 substrate 1 Gene

AKT1S1 - AKT1 substrate 1 Gene

Homo sapiens

Also known as Lobe; PRAS40

Gene ID: 84335 | Gene type: protein coding

About AKT1S1

Cytogenetic location: 19q13.33 Genomic coordinates (GRCh38): 19:49,869,033-49,878,356 (from NCBI)

This gene has 9 transcripts (splice variants) and 174 orthologues. Ubiquitous expression in fat (RPKM 12.1), kidney (RPKM 8.8) and 25 other tissues.

Summary

AKT1S1 is a proline-rich substrate of Akt (MIM 164730) that binds 14-3-3 protein (see YWHAH, MIM 113508) when phosphorylated (Kovacina et al., 2003 [PubMed 12524439]).[supplied by OMIM, Mar 2008]

AKT1S1 Products(5)

mRNA Protein Name
NM_001098632.2 NP_001092102.1 proline-rich AKT1 substrate 1 isoform b
NM_001098633.4 NP_001092103.1 proline-rich AKT1 substrate 1 isoform b
NM_001278159.2 NP_001265088.1 proline-rich AKT1 substrate 1 isoform b
NM_001278160.2 NP_001265089.1 proline-rich AKT1 substrate 1 isoform b
NM_032375.5 NP_115751.3 proline-rich AKT1 substrate 1 isoform a
Protein Preferred Names Protein Names

proline-rich AKT1 substrate 1

40 kDa proline-rich AKT substrate

Related Diseases

Diseases Alias
Breast Intraductal Papillomatosis

Breast Papillomatosis

Intraductal Papillomatosis Of The Breast

Subependymal Glioma

Mixed Subependymoma-Ependymoma

Subependymal Astrocytoma

Who Grade I Ependymal Tumor

Glioma, Subependymal

Cowden Syndrome 1

Bannayan-Riley-Ruvalcaba Syndrome

Pten Hamartoma Tumor Syndrome

Lhermitte-Duclos Disease

Bannayan-Zonana Syndrome

Phts

Riley-Smith Syndrome

Bzs

Ruvalcaba-Myhre-Smith Syndrome

Multiple Hamartoma Syndrome

Rmss

Brrs

Dysplastic Gangliocytoma Of The Cerebellum

CWS1

Cs

Cd

Mham

Pten Hamartoma Tumor Syndrome With Granular Cell Tumor

Macrocephaly Multiple Lipomas And Hemangiomata

Bannayan-Ruvalcaba-Riley Syndrome

Myhre-Riley-Smith Syndrome

LDD

Cerebelloparenchymal Disorder Vi

Hamartoma Syndrome, Multiple

Bbrs

Macrocephaly, Pseudopapilledema, And Multiple Hemangiomata

Macrocephaly, Multiple Lipomas, And Hemangiomata

Macrocephaly Pseudopapilledema And Multiple Hemangiomas

Ruvalcaba -Myhre-Smith Syndrome

Ruvalcaba-Myhre Syndrome

Cowden Disease

Macrocephaly Pseudopapilledema And Multiple Hemangiomata

Cerebellar Granule Cell Hypertrophy And Megalencephaly

Cpd6

Pten Hamartoma Tumor Syndromes

Cowden Syndrome, Type 1

Neurodegeneration With Brain Iron Accumulation

Nbia

Neurodegeneration With Brain Iron Accumulation Disorders

Neurodegeneration, With Brain Iron Accumulation

Proteus Syndrome

Proteus Syndrome, Somatic

Partial Gigantism-Nevi-Hemihypertrophy-Macrocephaly Syndrome

Gigantism, Partial, Of Hands And Feet, Nevi, Hemihypertrophy, And Macrocephaly

Wiedemann'S Syndrome

Hemihypertrophy And Macrocephaly

Partial Gigantism Of Hands And Feet, Nevi, Hemihypertrophy, Macrocephaly

Ps

PROTEUSS

Partial Gigantism Of Hands And Feet Nevi Hemihypertrophy And Macrocephaly

Cowden Syndrome

Cowden Disease

Multiple Hamartoma Syndrome

Cowden'S Disease

Lhermitte-Duclos Disease

Cd

Cs

Mham

Dysplastic Gangliocytoma Of Cerebellum

Cowden'S Syndrome

Hamartoma Syndrome, Multiple

Diseases Alias
Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Orthologs Information

Species Symbol Source ID
Canis familiaris AKT1S1 VGNC VGNC:37771
Rattus norvegicus AKT1S1 RGD RGD:1312049
Mus musculus AKT1S1 MGD MGI:1914855
Macaca mulatta AKT1S1 VGNC VGNC:108461
Bos taurus AKT1S1 VGNC VGNC:25798