AKT1S1 (AKT1 substrate 1) - Rat Genome Database

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Pathways
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Gene: AKT1S1 (AKT1 substrate 1) Homo sapiens
Analyze
Symbol: AKT1S1
Name: AKT1 substrate 1
RGD ID: 1323832
HGNC Page HGNC:28426
Description: Enables protein serine/threonine kinase inhibitor activity. Involved in negative regulation of TORC1 signaling and negative regulation of cell size. Located in cytosol. Part of TORC1 complex.
Type: protein-coding
RefSeq Status: VALIDATED
Previously known as: 40 kDa proline-rich AKT substrate; AKT1 substrate 1 (proline rich); AKT1 substrate 1 (proline-rich); Lobe; MGC2865; PRAS40; proline-rich Akt substrate, 40 kDa; proline-rich AKT1 substrate 1
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Orthologs
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381949,869,033 - 49,878,356 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1949,869,033 - 49,878,459 (-)EnsemblGRCh38hg38GRCh38
GRCh371950,372,290 - 50,381,613 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361955,064,108 - 55,072,456 (-)NCBINCBI36Build 36hg18NCBI36
Build 341955,064,108 - 55,072,342NCBI
Celera1947,241,806 - 47,250,153 (-)NCBICelera
Cytogenetic Map19q13.33NCBI
HuRef1946,748,627 - 46,757,949 (-)NCBIHuRef
CHM1_11950,374,126 - 50,383,449 (-)NCBICHM1_1
T2T-CHM13v2.01952,869,170 - 52,878,493 (-)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View

Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
(-)-Arctigenin  (EXP)
(1->4)-beta-D-glucan  (ISO)
1,2-dimethylhydrazine  (ISO)
17alpha-ethynylestradiol  (ISO)
17beta-estradiol  (EXP,ISO)
2,3,7,8-tetrachlorodibenzodioxine  (ISO)
2,4-dinitrotoluene  (ISO)
4,4'-sulfonyldiphenol  (ISO)
4-amino-2,6-dinitrotoluene  (ISO)
4-hydroxyphenyl retinamide  (ISO)
acrylamide  (EXP)
aristolochic acid A  (EXP)
atrazine  (EXP)
AZD4547  (EXP)
bafilomycin A1  (ISO)
benzo[a]pyrene  (EXP,ISO)
bis(2-ethylhexyl) phthalate  (EXP)
bisphenol A  (EXP,ISO)
bisphenol F  (ISO)
C60 fullerene  (ISO)
cabazitaxel  (EXP)
cadmium atom  (EXP)
cadmium dichloride  (EXP)
caffeine  (EXP)
cannabidiol  (EXP)
capivasertib  (EXP)
carbon nanotube  (ISO)
CGP 52608  (EXP)
chloroquine  (ISO)
chlorpyrifos  (ISO)
copper(II) sulfate  (EXP)
coumarin  (EXP)
crocidolite asbestos  (ISO)
CU-O LINKAGE  (EXP)
cyclosporin A  (EXP)
dorsomorphin  (ISO)
enzyme inhibitor  (EXP)
fenthion  (ISO)
finasteride  (ISO)
flutamide  (ISO)
FR900359  (EXP)
fulvestrant  (EXP)
gentamycin  (ISO)
hexadecanoic acid  (EXP)
icariside II  (EXP)
ivermectin  (EXP)
leflunomide  (EXP,ISO)
lidocaine  (ISO)
LY294002  (ISO)
mercury atom  (ISO)
mercury(0)  (ISO)
MK-2206  (EXP)
mono(2-ethylhexyl) phthalate  (ISO)
nefazodone  (ISO)
nimesulide  (ISO)
ozone  (EXP)
paracetamol  (ISO)
perfluorooctane-1-sulfonic acid  (ISO)
phenobarbital  (ISO)
pirinixic acid  (ISO)
quercetin  (EXP)
resveratrol  (EXP,ISO)
rotenone  (EXP)
silicon dioxide  (EXP)
sirolimus  (ISO)
sodium arsenite  (ISO)
sodium fluoride  (ISO)
sulindac  (ISO)
sunitinib  (EXP)
T-2 toxin  (ISO)
theophylline  (EXP)
titanium dioxide  (EXP,ISO)
trichloroethene  (ISO)
triptonide  (ISO)
urethane  (EXP)
valproic acid  (EXP)
wortmannin  (ISO)
zoledronic acid  (EXP)

Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component
cytoplasm  (IBA,IEA)
cytosol  (IDA,IEA,ISS,TAS)
nucleoplasm  (TAS)
protein-containing complex  (IEA,ISO)
TORC1 complex  (IDA)

Molecular Function

Molecular Pathway Annotations     Click to see Annotation Detail View
References

References - curated
# Reference Title Reference Citation
1. mTOR signaling in growth control and disease. Laplante M and Sabatini DM, Cell. 2012 Apr 13;149(2):274-93. doi: 10.1016/j.cell.2012.03.017.
2. Molecular mechanisms of mTOR-mediated translational control. Ma XM and Blenis J, Nat Rev Mol Cell Biol. 2009 May;10(5):307-18. Epub 2009 Apr 2.
3. PID Annotation Import Pipeline Pipeline to import Pathway Interaction Database annotations from NCI into RGD
4. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
5. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
6. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. Strausberg RL, etal., Proc Natl Acad Sci U S A. 2002 Dec 24;99(26):16899-903. Epub 2002 Dec 11.
Additional References at PubMed
PMID:8125298   PMID:12524439   PMID:14702039   PMID:14973226   PMID:15161933   PMID:15302935   PMID:15324660   PMID:15489334   PMID:16169070   PMID:16174443   PMID:16344560   PMID:17081983  
PMID:17277771   PMID:17386266   PMID:17510057   PMID:17604271   PMID:17979178   PMID:18030348   PMID:18215133   PMID:18372248   PMID:18570873   PMID:19114562   PMID:19446321   PMID:19648646  
PMID:20169205   PMID:21873635   PMID:21886838   PMID:21900206   PMID:21906675   PMID:21910584   PMID:21914810   PMID:21981924   PMID:22090422   PMID:22241085   PMID:22354785   PMID:22863883  
PMID:22873724   PMID:23444366   PMID:23460019   PMID:23712034   PMID:24255178   PMID:24462114   PMID:24576065   PMID:24704832   PMID:25531317   PMID:25544563   PMID:25648575   PMID:25940091  
PMID:26003731   PMID:26578655   PMID:26673895   PMID:26876154   PMID:27173435   PMID:27431378   PMID:28205554   PMID:28484006   PMID:28514442   PMID:28674187   PMID:29053956   PMID:29089450  
PMID:29117863   PMID:29236692   PMID:29509190   PMID:31210839   PMID:31601764   PMID:31692069   PMID:31728028   PMID:31740404   PMID:31813279   PMID:31901857   PMID:32467173   PMID:32513696  
PMID:33187986   PMID:33230243   PMID:33804169   PMID:33852892   PMID:33961781   PMID:34597346   PMID:34941261   PMID:35058442   PMID:35271311   PMID:36931259  


Genomics

Comparative Map Data
AKT1S1
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381949,869,033 - 49,878,356 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1949,869,033 - 49,878,459 (-)EnsemblGRCh38hg38GRCh38
GRCh371950,372,290 - 50,381,613 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361955,064,108 - 55,072,456 (-)NCBINCBI36Build 36hg18NCBI36
Build 341955,064,108 - 55,072,342NCBI
Celera1947,241,806 - 47,250,153 (-)NCBICelera
Cytogenetic Map19q13.33NCBI
HuRef1946,748,627 - 46,757,949 (-)NCBIHuRef
CHM1_11950,374,126 - 50,383,449 (-)NCBICHM1_1
T2T-CHM13v2.01952,869,170 - 52,878,493 (-)NCBIT2T-CHM13v2.0
Akt1s1
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39744,498,648 - 44,504,845 (+)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl744,498,415 - 44,504,845 (+)EnsemblGRCm39 Ensembl
GRCm38744,849,224 - 44,855,421 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl744,848,991 - 44,855,421 (+)EnsemblGRCm38mm10GRCm38
MGSCv37752,104,597 - 52,110,780 (+)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv36744,717,269 - 44,723,452 (+)NCBIMGSCv36mm8
Celera740,299,420 - 40,305,601 (+)NCBICelera
Cytogenetic Map7B3NCBI
Akt1s1
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr81104,469,823 - 104,476,168 (+)NCBIGRCr8
mRatBN7.2195,333,186 - 95,339,678 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl195,332,898 - 95,339,677 (+)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx1100,718,732 - 100,725,064 (+)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.01109,191,397 - 109,197,729 (+)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.01102,481,805 - 102,488,138 (+)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.01100,845,443 - 100,851,961 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl1100,845,563 - 100,851,960 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.01101,910,233 - 101,916,583 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4195,325,272 - 95,328,510 (+)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.1195,400,788 - 95,405,932 (+)NCBI
Celera189,595,080 - 89,601,434 (+)NCBICelera
Cytogenetic Map1q22NCBI
Akt1s1
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049555591,056,357 - 1,063,192 (+)EnsemblChiLan1.0
ChiLan1.0NW_0049555591,055,998 - 1,063,192 (+)NCBIChiLan1.0ChiLan1.0
AKT1S1
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v22055,984,665 - 55,992,926 (-)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan11957,904,468 - 57,913,137 (-)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v01946,882,073 - 46,890,404 (-)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.11955,797,927 - 55,806,256 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl1955,797,927 - 55,806,256 (-)Ensemblpanpan1.1panPan2
AKT1S1
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.11106,686,349 - 106,694,854 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl1106,687,024 - 106,693,928 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha1106,269,724 - 106,278,283 (+)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.01107,207,721 - 107,216,289 (+)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl1107,207,783 - 107,216,282 (+)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.11106,879,820 - 106,888,377 (+)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.01106,521,815 - 106,530,368 (+)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.01107,362,280 - 107,370,842 (+)NCBIUU_Cfam_GSD_1.0
Akt1s1
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440934922,038,980 - 22,046,187 (-)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_0049366643,657,207 - 3,664,024 (-)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_0049366643,657,170 - 3,664,375 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
AKT1S1
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl654,881,588 - 54,890,641 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1654,881,581 - 54,890,917 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2650,610,706 - 50,620,015 (-)NCBISscrofa10.2Sscrofa10.2susScr3
AKT1S1
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1643,026,392 - 43,034,896 (-)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl643,026,286 - 43,035,533 (-)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_02366607323,001,677 - 23,010,228 (-)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Akt1s1
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_0046248324,454,309 - 4,461,603 (+)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_0046248324,454,257 - 4,461,603 (+)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in AKT1S1
21 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 19q13.33-13.43(chr19:47908540-58539965)x3 copy number gain See cases [RCV000052914] Chr19:47908540..58539965 [GRCh38]
Chr19:48411797..59051332 [GRCh37]
Chr19:53103609..63743144 [NCBI36]
Chr19:19q13.33-13.43		 pathogenic
GRCh38/hg38 19q13.33-13.43(chr19:47929575-58572206)x3 copy number gain See cases [RCV000052915] Chr19:47929575..58572206 [GRCh38]
Chr19:48432832..59083573 [GRCh37]
Chr19:53124644..63775385 [NCBI36]
Chr19:19q13.33-13.43		 pathogenic
NM_007254.3(PNKP):c.75C>T (p.Pro25=) single nucleotide variant Malignant melanoma [RCV000072264] Chr19:49867130 [GRCh38]
Chr19:50370387 [GRCh37]
Chr19:55062199 [NCBI36]
Chr19:19q13.33		 not provided
NM_001098633.4(AKT1S1):c.55C>T (p.Arg19Cys) single nucleotide variant not specified [RCV004332885] Chr19:49873241 [GRCh38]
Chr19:50376498 [GRCh37]
Chr19:19q13.33		 uncertain significance
GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888) copy number gain See cases [RCV000512296] Chr19:260912..58956888 [GRCh37]
Chr19:19p13.3-q13.43		 pathogenic
GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888)x3 copy number gain See cases [RCV000511289] Chr19:260912..58956888 [GRCh37]
Chr19:19p13.3-q13.43		 pathogenic|uncertain significance
GRCh37/hg19 19p13.3-q13.43(chr19:68029-59110290)x3 copy number gain not provided [RCV000752439] Chr19:68029..59110290 [GRCh37]
Chr19:19p13.3-q13.43		 pathogenic
GRCh37/hg19 19p13.3-q13.43(chr19:260912-59097160)x3 copy number gain not provided [RCV000752444] Chr19:260912..59097160 [GRCh37]
Chr19:19p13.3-q13.43		 pathogenic
GRCh37/hg19 19q13.31-13.42(chr19:44738088-53621561)x3 copy number gain not provided [RCV001007050] Chr19:44738088..53621561 [GRCh37]
Chr19:19q13.31-13.42		 pathogenic
NM_001098633.4(AKT1S1):c.165G>A (p.Ala55=) single nucleotide variant not provided [RCV000885541] Chr19:49873131 [GRCh38]
Chr19:50376388 [GRCh37]
Chr19:19q13.33		 benign
NM_001098633.4(AKT1S1):c.702G>T (p.Gln234His) single nucleotide variant not specified [RCV004284647] Chr19:49869986 [GRCh38]
Chr19:50373243 [GRCh37]
Chr19:19q13.33		 uncertain significance
GRCh37/hg19 19q13.33(chr19:49600909-51366070)x3 copy number gain not provided [RCV000847250] Chr19:49600909..51366070 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_001098633.4(AKT1S1):c.348C>T (p.Ser116=) single nucleotide variant not provided [RCV000889167] Chr19:49872948 [GRCh38]
Chr19:50376205 [GRCh37]
Chr19:19q13.33		 benign
GRCh37/hg19 19q13.32-13.42(chr19:47939842-54626871) copy number gain not provided [RCV001249294] Chr19:47939842..54626871 [GRCh37]
Chr19:19q13.32-13.42		 not provided
GRCh37/hg19 19q13.33-13.43(chr19:48463931-57095254)x3 copy number gain not provided [RCV001259944] Chr19:48463931..57095254 [GRCh37]
Chr19:19q13.33-13.43		 pathogenic
GRCh37/hg19 19q13.33-13.41(chr19:49911081-53127438) copy number gain not specified [RCV002052689] Chr19:49911081..53127438 [GRCh37]
Chr19:19q13.33-13.41		 likely pathogenic
GRCh37/hg19 19q13.33(chr19:50355646-50552140) copy number gain not specified [RCV002052690] Chr19:50355646..50552140 [GRCh37]
Chr19:19q13.33		 uncertain significance
NC_000019.9:g.(?_48618906)_(50921204_?)dup duplication Developmental and epileptic encephalopathy, 12 [RCV001939968]|not provided [RCV001916178] Chr19:48618906..50921204 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_001098633.4(AKT1S1):c.8C>T (p.Ser3Leu) single nucleotide variant not specified [RCV004219462] Chr19:49873288 [GRCh38]
Chr19:50376545 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_001098633.4(AKT1S1):c.67C>T (p.Arg23Trp) single nucleotide variant not specified [RCV004221574] Chr19:49873229 [GRCh38]
Chr19:50376486 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_001098633.4(AKT1S1):c.758A>G (p.Lys253Arg) single nucleotide variant not specified [RCV004111958] Chr19:49869930 [GRCh38]
Chr19:50373187 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_001098633.4(AKT1S1):c.146A>G (p.His49Arg) single nucleotide variant not specified [RCV004240321] Chr19:49873150 [GRCh38]
Chr19:50376407 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_001098633.4(AKT1S1):c.344C>A (p.Thr115Asn) single nucleotide variant not specified [RCV004133415] Chr19:49872952 [GRCh38]
Chr19:50376209 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_001098633.4(AKT1S1):c.83T>C (p.Leu28Pro) single nucleotide variant not specified [RCV004172807] Chr19:49873213 [GRCh38]
Chr19:50376470 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_001098633.4(AKT1S1):c.190G>A (p.Asp64Asn) single nucleotide variant not specified [RCV004183092] Chr19:49873106 [GRCh38]
Chr19:50376363 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_001098633.4(AKT1S1):c.46G>C (p.Ala16Pro) single nucleotide variant not specified [RCV004172806] Chr19:49873250 [GRCh38]
Chr19:50376507 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_001098633.4(AKT1S1):c.590G>C (p.Arg197Thr) single nucleotide variant not specified [RCV004113153] Chr19:49871584 [GRCh38]
Chr19:50374841 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_001098633.4(AKT1S1):c.385T>A (p.Phe129Ile) single nucleotide variant not specified [RCV004225445] Chr19:49871884 [GRCh38]
Chr19:50375141 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_001098633.4(AKT1S1):c.19G>A (p.Glu7Lys) single nucleotide variant not specified [RCV004082968] Chr19:49873277 [GRCh38]
Chr19:50376534 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_001098633.4(AKT1S1):c.226C>T (p.Arg76Trp) single nucleotide variant not specified [RCV004085169] Chr19:49873070 [GRCh38]
Chr19:50376327 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_001098633.4(AKT1S1):c.509C>A (p.Pro170His) single nucleotide variant not specified [RCV004323406] Chr19:49871665 [GRCh38]
Chr19:50374922 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_001098633.4(AKT1S1):c.164C>T (p.Ala55Val) single nucleotide variant not specified [RCV004342665] Chr19:49873132 [GRCh38]
Chr19:50376389 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_001098633.4(AKT1S1):c.735C>G (p.Asn245Lys) single nucleotide variant not specified [RCV004344998] Chr19:49869953 [GRCh38]
Chr19:50373210 [GRCh37]
Chr19:19q13.33		 uncertain significance
GRCh37/hg19 19q13.33-13.43(chr19:49625130-57647352)x3 copy number gain not provided [RCV003485200] Chr19:49625130..57647352 [GRCh37]
Chr19:19q13.33-13.43		 likely pathogenic
NM_001098633.4(AKT1S1):c.99G>A (p.Ala33=) single nucleotide variant not provided [RCV003425348] Chr19:49873197 [GRCh38]
Chr19:50376454 [GRCh37]
Chr19:19q13.33		 likely benign
NM_001098633.4(AKT1S1):c.48C>T (p.Ala16=) single nucleotide variant not provided [RCV003425349] Chr19:49873248 [GRCh38]
Chr19:50376505 [GRCh37]
Chr19:19q13.33		 likely benign
GRCh37/hg19 19q13.33-13.41(chr19:48905537-51614930)x3 copy number gain not specified [RCV003986127] Chr19:48905537..51614930 [GRCh37]
Chr19:19q13.33-13.41		 likely pathogenic
NM_001098633.4(AKT1S1):c.236C>T (p.Ala79Val) single nucleotide variant not specified [RCV004400118] Chr19:49873060 [GRCh38]
Chr19:50376317 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_001098633.4(AKT1S1):c.319G>A (p.Glu107Lys) single nucleotide variant not specified [RCV004400122] Chr19:49872977 [GRCh38]
Chr19:50376234 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_001098633.4(AKT1S1):c.37G>A (p.Val13Met) single nucleotide variant not specified [RCV004400124] Chr19:49873259 [GRCh38]
Chr19:50376516 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_001098633.4(AKT1S1):c.712G>C (p.Asp238His) single nucleotide variant not specified [RCV004400153] Chr19:49869976 [GRCh38]
Chr19:50373233 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_001098633.4(AKT1S1):c.755T>A (p.Leu252Gln) single nucleotide variant not specified [RCV004400161] Chr19:49869933 [GRCh38]
Chr19:50373190 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_024682.3(TBC1D17):c.28T>G (p.Phe10Val) single nucleotide variant not specified [RCV004471876] Chr19:49878149 [GRCh38]
Chr19:50381406 [GRCh37]
Chr19:19q13.33		 uncertain significance
NM_001098633.4(AKT1S1):c.403G>A (p.Ala135Thr) single nucleotide variant not specified [RCV004400133] Chr19:49871866 [GRCh38]
Chr19:50375123 [GRCh37]
Chr19:19q13.33		 likely benign
NM_001098633.4(AKT1S1):c.95C>T (p.Thr32Ile) single nucleotide variant not specified [RCV004400175] Chr19:49873201 [GRCh38]
Chr19:50376458 [GRCh37]
Chr19:19q13.33		 uncertain significance
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:5138
Count of miRNA genes:898
Interacting mature miRNAs:1087
Transcripts:ENST00000344175, ENST00000391830, ENST00000391831, ENST00000391832, ENST00000391833, ENST00000391834, ENST00000391835, ENST00000482622, ENST00000599525
Prediction methods:Microtar, Miranda, Rnahybrid, Targetscan
Result types:miRGate_prediction

The detailed report is available here: Full Report CSV TAB Printer

miRNA Target Status data imported from miRGate (http://mirgate.bioinfo.cnio.es/).
For more information about miRGate, see PMID:25858286 or access the full paper here.

Markers in Region
RH36488  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371950,380,214 - 50,380,334UniSTSGRCh37
Build 361955,072,026 - 55,072,146RGDNCBI36
Celera1947,249,723 - 47,249,843RGD
Cytogenetic Map19q13.33UniSTS
HuRef1946,756,550 - 46,756,670UniSTS
GeneMap99-GB4 RH Map19269.34UniSTS


Expression


RNA-SEQ Expression
High: > 1000 TPM value   Medium: Between 11 and 1000 TPM
Low: Between 0.5 and 10 TPM   Below Cutoff: < 0.5 TPM

alimentary part of gastrointestinal system circulatory system endocrine system exocrine system hemolymphoid system hepatobiliary system integumental system musculoskeletal system nervous system renal system reproductive system respiratory system sensory system visual system adipose tissue appendage entire extraembryonic component pharyngeal arch
High
Medium 2399 2013 1628 534 1245 379 4351 1974 2947 356 1442 1579 169 1197 2786 3
Low 37 977 95 89 705 85 5 221 762 63 14 31 3 7 2 2 1
Below cutoff 1 2 1 1 19 3 2 2 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NM_001098632 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001098633 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001278159 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001278160 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_032375 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AC118341 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK055511 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK092610 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK123687 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK226004 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK316603 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC000031 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC007416 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC015562 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC016043 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC022241 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC051844 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471177 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068259 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA005259 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA476468 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA542314 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA848626 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000344175   ⟹   ENSP00000341698
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1949,869,039 - 49,877,355 (-)Ensembl
RefSeq Acc Id: ENST00000391830   ⟹   ENSP00000375706
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1949,872,970 - 49,878,459 (-)Ensembl
RefSeq Acc Id: ENST00000391831   ⟹   ENSP00000375707
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1949,869,046 - 49,876,249 (-)Ensembl
RefSeq Acc Id: ENST00000391832   ⟹   ENSP00000375708
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1949,869,039 - 49,877,279 (-)Ensembl
RefSeq Acc Id: ENST00000391833   ⟹   ENSP00000375709
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1949,869,038 - 49,875,285 (-)Ensembl
RefSeq Acc Id: ENST00000391834   ⟹   ENSP00000375710
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1949,869,033 - 49,878,356 (-)Ensembl
RefSeq Acc Id: ENST00000391835   ⟹   ENSP00000375711
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1949,869,046 - 49,878,028 (-)Ensembl
RefSeq Acc Id: ENST00000482622
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1949,876,658 - 49,878,356 (-)Ensembl
RefSeq Acc Id: ENST00000599525   ⟹   ENSP00000472839
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1949,873,196 - 49,873,800 (-)Ensembl
RefSeq Acc Id: NM_001098632   ⟹   NP_001092102
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381949,869,033 - 49,877,387 (-)NCBI
GRCh371950,372,290 - 50,381,613 (-)NCBI
Build 361955,064,108 - 55,072,456 (-)NCBI Archive
Celera1947,241,806 - 47,250,153 (-)RGD
HuRef1946,748,627 - 46,757,949 (-)NCBI
CHM1_11950,374,126 - 50,382,480 (-)NCBI
T2T-CHM13v2.01952,869,170 - 52,877,524 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001098633   ⟹   NP_001092103
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381949,869,039 - 49,877,355 (-)NCBI
GRCh371950,372,290 - 50,381,613 (-)NCBI
Build 361955,064,108 - 55,072,424 (-)NCBI Archive
Celera1947,241,806 - 47,250,153 (-)RGD
HuRef1946,748,627 - 46,757,949 (-)NCBI
CHM1_11950,374,126 - 50,382,480 (-)NCBI
T2T-CHM13v2.01952,869,176 - 52,877,492 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001278159   ⟹   NP_001265088
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381949,869,039 - 49,876,249 (-)NCBI
HuRef1946,748,627 - 46,757,949 (-)NCBI
CHM1_11950,374,126 - 50,381,342 (-)NCBI
T2T-CHM13v2.01952,869,176 - 52,876,386 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001278160   ⟹   NP_001265089
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381949,869,039 - 49,878,356 (-)NCBI
HuRef1946,748,627 - 46,757,949 (-)NCBI
CHM1_11950,374,126 - 50,383,449 (-)NCBI
T2T-CHM13v2.01952,869,176 - 52,878,493 (-)NCBI
Sequence:
RefSeq Acc Id: NM_032375   ⟹   NP_115751
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381949,869,033 - 49,877,387 (-)NCBI
GRCh371950,372,290 - 50,381,613 (-)NCBI
Build 361955,064,108 - 55,072,390 (-)NCBI Archive
Celera1947,241,806 - 47,250,153 (-)RGD
HuRef1946,748,627 - 46,757,949 (-)NCBI
CHM1_11950,374,126 - 50,382,480 (-)NCBI
T2T-CHM13v2.01952,869,170 - 52,877,524 (-)NCBI
Sequence:
Reference Protein Sequences
RefSeq Acc Id: NP_001092102   ⟸   NM_001098632
- Peptide Label: isoform b
- UniProtKB: Q96NG2 (UniProtKB/Swiss-Prot),   Q96IK7 (UniProtKB/Swiss-Prot),   Q96BI4 (UniProtKB/Swiss-Prot),   J3KPM3 (UniProtKB/Swiss-Prot),   B2RE93 (UniProtKB/Swiss-Prot),   A8MTQ1 (UniProtKB/Swiss-Prot),   Q9BWR5 (UniProtKB/Swiss-Prot),   Q96B36 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001092103   ⟸   NM_001098633
- Peptide Label: isoform b
- UniProtKB: Q96NG2 (UniProtKB/Swiss-Prot),   Q96IK7 (UniProtKB/Swiss-Prot),   Q96BI4 (UniProtKB/Swiss-Prot),   J3KPM3 (UniProtKB/Swiss-Prot),   B2RE93 (UniProtKB/Swiss-Prot),   A8MTQ1 (UniProtKB/Swiss-Prot),   Q9BWR5 (UniProtKB/Swiss-Prot),   Q96B36 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_115751   ⟸   NM_032375
- Peptide Label: isoform a
- UniProtKB: Q96B36 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001265089   ⟸   NM_001278160
- Peptide Label: isoform b
- UniProtKB: Q96NG2 (UniProtKB/Swiss-Prot),   Q96IK7 (UniProtKB/Swiss-Prot),   Q96BI4 (UniProtKB/Swiss-Prot),   J3KPM3 (UniProtKB/Swiss-Prot),   B2RE93 (UniProtKB/Swiss-Prot),   A8MTQ1 (UniProtKB/Swiss-Prot),   Q9BWR5 (UniProtKB/Swiss-Prot),   Q96B36 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001265088   ⟸   NM_001278159
- Peptide Label: isoform b
- UniProtKB: Q96NG2 (UniProtKB/Swiss-Prot),   Q96IK7 (UniProtKB/Swiss-Prot),   Q96BI4 (UniProtKB/Swiss-Prot),   J3KPM3 (UniProtKB/Swiss-Prot),   B2RE93 (UniProtKB/Swiss-Prot),   A8MTQ1 (UniProtKB/Swiss-Prot),   Q9BWR5 (UniProtKB/Swiss-Prot),   Q96B36 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: ENSP00000472839   ⟸   ENST00000599525
RefSeq Acc Id: ENSP00000375711   ⟸   ENST00000391835
RefSeq Acc Id: ENSP00000375710   ⟸   ENST00000391834
RefSeq Acc Id: ENSP00000375707   ⟸   ENST00000391831
RefSeq Acc Id: ENSP00000375706   ⟸   ENST00000391830
RefSeq Acc Id: ENSP00000375709   ⟸   ENST00000391833
RefSeq Acc Id: ENSP00000375708   ⟸   ENST00000391832
RefSeq Acc Id: ENSP00000341698   ⟸   ENST00000344175

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q96B36-F1-model_v2 AlphaFold Q96B36 1-256 view protein structure

Promoters
RGD ID:13205195
Promoter ID:EPDNEW_H26178
Type:multiple initiation site
Name:AKT1S1_3
Description:AKT1 substrate 1
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H26179  EPDNEW_H26180  EPDNEW_H26183  EPDNEW_H26184  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381949,873,315 - 49,873,375EPDNEW
RGD ID:13205197
Promoter ID:EPDNEW_H26179
Type:initiation region
Name:AKT1S1_1
Description:AKT1 substrate 1
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H26178  EPDNEW_H26180  EPDNEW_H26183  EPDNEW_H26184  
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381949,876,619 - 49,876,679EPDNEW
RGD ID:13205199
Promoter ID:EPDNEW_H26180
Type:initiation region
Name:AKT1S1_2
Description:AKT1 substrate 1
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H26178  EPDNEW_H26179  EPDNEW_H26183  EPDNEW_H26184  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381949,877,355 - 49,877,415EPDNEW
RGD ID:13205205
Promoter ID:EPDNEW_H26183
Type:initiation region
Name:AKT1S1_4
Description:AKT1 substrate 1
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H26178  EPDNEW_H26179  EPDNEW_H26180  EPDNEW_H26184  
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381949,877,841 - 49,877,901EPDNEW
RGD ID:13205207
Promoter ID:EPDNEW_H26184
Type:initiation region
Name:AKT1S1_5
Description:AKT1 substrate 1
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H26178  EPDNEW_H26179  EPDNEW_H26180  EPDNEW_H26183  
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381949,878,324 - 49,878,384EPDNEW
RGD ID:6795503
Promoter ID:HG_KWN:30583
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:Lymphoblastoid
Transcripts:ENST00000391833
Position:
Human AssemblyChrPosition (strand)Source
Build 361955,069,506 - 55,070,107 (-)MPROMDB
RGD ID:6795124
Promoter ID:HG_KWN:30584
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   CD4+TCell_2Hour,   HeLa_S3,   Jurkat,   K562,   Lymphoblastoid,   NB4
Transcripts:ENST00000344175,   ENST00000391830,   ENST00000391831,   ENST00000391832,   ENST00000391835,   OTTHUMT00000317075
Position:
Human AssemblyChrPosition (strand)Source
Build 361955,071,306 - 55,074,287 (-)MPROMDB

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:28426 AgrOrtholog
COSMIC AKT1S1 COSMIC
Ensembl Genes ENSG00000204673 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000344175 ENTREZGENE
  ENST00000344175.10 UniProtKB/Swiss-Prot
  ENST00000391830.1 UniProtKB/TrEMBL
  ENST00000391831 ENTREZGENE
  ENST00000391831.5 UniProtKB/Swiss-Prot
  ENST00000391832 ENTREZGENE
  ENST00000391832.7 UniProtKB/Swiss-Prot
  ENST00000391833.5 UniProtKB/Swiss-Prot
  ENST00000391834 ENTREZGENE
  ENST00000391834.6 UniProtKB/Swiss-Prot
  ENST00000391835 ENTREZGENE
  ENST00000391835.1 UniProtKB/Swiss-Prot
  ENST00000599525.1 UniProtKB/TrEMBL
GTEx ENSG00000204673 GTEx
HGNC ID HGNC:28426 ENTREZGENE
Human Proteome Map AKT1S1 Human Proteome Map
InterPro AKT1S1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:84335 UniProtKB/Swiss-Prot
NCBI Gene 84335 ENTREZGENE
OMIM 610221 OMIM
PANTHER PROLINE-RICH AKT1 SUBSTRATE 1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PTHR21844 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam PRAS UniProtKB/Swiss-Prot
PharmGKB PA134943587 PharmGKB
UniProt A8MTQ1 ENTREZGENE
  AKTS1_HUMAN UniProtKB/Swiss-Prot
  B2RE93 ENTREZGENE
  H9KV91_HUMAN UniProtKB/TrEMBL
  J3KPM3 ENTREZGENE
  M0R2V8_HUMAN UniProtKB/TrEMBL
  Q96B36 ENTREZGENE
  Q96BI4 ENTREZGENE
  Q96IK7 ENTREZGENE
  Q96NG2 ENTREZGENE
  Q9BWR5 ENTREZGENE
UniProt Secondary A8MTQ1 UniProtKB/Swiss-Prot
  B2RE93 UniProtKB/Swiss-Prot
  J3KPM3 UniProtKB/Swiss-Prot
  Q96BI4 UniProtKB/Swiss-Prot
  Q96IK7 UniProtKB/Swiss-Prot
  Q96NG2 UniProtKB/Swiss-Prot
  Q9BWR5 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2016-05-03 AKT1S1  AKT1 substrate 1  AKT1S1  AKT1 substrate 1 (proline rich)  Symbol and/or name change 5135510 APPROVED
2015-11-10 AKT1S1  AKT1 substrate 1 (proline rich)  AKT1S1  AKT1 substrate 1 (proline-rich)  Symbol and/or name change 5135510 APPROVED