APPL1 (adaptor protein, phosphotyrosine interacting with PH domain and leucine zipper 1) - Rat Genome Database

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Gene: APPL1 (adaptor protein, phosphotyrosine interacting with PH domain and leucine zipper 1) Homo sapiens
Analyze
Symbol: APPL1
Name: adaptor protein, phosphotyrosine interacting with PH domain and leucine zipper 1
RGD ID: 1607055
HGNC Page HGNC:24035
Description: Enables several functions, including beta-tubulin binding activity; phospholipid binding activity; and protein homodimerization activity. Involved in several processes, including cell surface receptor signaling pathway; positive regulation of glucose import; and positive regulation of melanin biosynthetic process. Located in several cellular components, including cytosol; endosome; and nucleus. Is active in glutamatergic synapse. Implicated in maturity-onset diabetes of the young type 14.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: adapter protein containing PH domain, PTB domain and leucine zipper motif 1; adaptor protein containing pH domain, PTB domain and leucine zipper motif 1; adaptor protein, phosphotyrosine interaction, PH domain and leucine zipper containing 1; AKT2 interactor; APPL; DCC-interacting protein 13-alpha; dip13-alpha; DIP13alpha; MODY14; signaling adaptor protein DIP13alpha
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Genes
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38357,227,729 - 57,273,471 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p13 Ensembl357,227,726 - 57,278,105 (+)EnsemblGRCh38hg38GRCh38
GRCh37357,261,757 - 57,307,499 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36357,236,805 - 57,282,539 (+)NCBINCBI36Build 36hg18NCBI36
Celera357,227,340 - 57,273,073 (+)NCBICelera
Cytogenetic Map3p14.3NCBI
HuRef357,310,967 - 57,356,664 (+)NCBIHuRef
CHM1_1357,211,913 - 57,257,646 (+)NCBICHM1_1
T2T-CHM13v2.0357,267,997 - 57,313,740 (+)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
(+)-schisandrin B  (ISO)
1,2-dimethylhydrazine  (ISO)
1-naphthyl isothiocyanate  (ISO)
17alpha-ethynylestradiol  (ISO)
2,2',4,4'-Tetrabromodiphenyl ether  (EXP,ISO)
2,3,7,8-tetrachlorodibenzodioxine  (ISO)
2,4,6-tribromophenol  (EXP)
2-butoxyethanol  (ISO)
3,3',5,5'-tetrabromobisphenol A  (EXP)
3-isobutyl-1-methyl-7H-xanthine  (EXP)
4,4'-diaminodiphenylmethane  (ISO)
4,4'-sulfonyldiphenol  (EXP,ISO)
aflatoxin B1  (ISO)
aristolochic acid A  (EXP)
arsane  (EXP)
arsenic atom  (EXP)
atrazine  (EXP)
bafilomycin A1  (ISO)
benzo[a]pyrene  (EXP)
bisphenol A  (EXP,ISO)
bisphenol F  (ISO)
cadmium dichloride  (EXP)
caffeine  (EXP)
chloroquine  (ISO)
cisplatin  (EXP,ISO)
cocaine  (ISO)
copper atom  (EXP)
copper(0)  (EXP)
crocidolite asbestos  (ISO)
Cuprizon  (EXP)
cyclosporin A  (ISO)
decabromodiphenyl ether  (EXP)
dexamethasone  (EXP)
dibenz[a,h]anthracene  (ISO)
doxorubicin  (EXP)
epoxiconazole  (ISO)
ethanol  (ISO)
folic acid  (ISO)
fulvestrant  (EXP)
geraniol  (EXP)
haloperidol  (EXP)
hydrogen peroxide  (EXP)
indometacin  (EXP)
ivermectin  (EXP)
lipopolysaccharide  (ISO)
metformin  (ISO)
methyl methanesulfonate  (EXP)
N-benzyloxycarbonyl-L-leucyl-L-leucyl-L-leucinal  (ISO)
N-nitrosodimethylamine  (ISO)
paracetamol  (ISO)
parathion  (ISO)
phenobarbital  (ISO)
pirinixic acid  (ISO)
poly(I:C)  (ISO)
resiquimod  (ISO)
sodium arsenate  (ISO)
sodium arsenite  (EXP)
sunitinib  (EXP)
tert-butyl hydroperoxide  (EXP)
tetrachloromethane  (ISO)
thioacetamide  (ISO)
torcetrapib  (EXP)
trametinib  (ISO)
uranium atom  (EXP)
valproic acid  (EXP)
vinclozolin  (ISO)

Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component

Molecular Pathway Annotations     Click to see Annotation Detail View
Phenotype Annotations     Click to see Annotation Detail View
References

References - curated
# Reference Title Reference Citation
1. KEGG Annotation Import Pipeline Pipeline to import KEGG annotations from KEGG into RGD
2. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
3. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
4. RGD HPO Phenotype Annotation Pipeline RGD automated import pipeline for human HPO-to-gene-to-disease annotations
Additional References at PubMed
PMID:10490823   PMID:10718198   PMID:12011067   PMID:12168954   PMID:12477932   PMID:12621049   PMID:15016378   PMID:15070827   PMID:15196694   PMID:15302935   PMID:15345747   PMID:15489334  
PMID:16189514   PMID:16273093   PMID:16622416   PMID:16751776   PMID:17030088   PMID:17287464   PMID:17490420   PMID:17502098   PMID:17581628   PMID:17848569   PMID:18034774   PMID:18307981  
PMID:18570454   PMID:18581887   PMID:18632660   PMID:19056867   PMID:19060904   PMID:19322201   PMID:19433865   PMID:19520843   PMID:19661063   PMID:19686092   PMID:20095645   PMID:20412119  
PMID:20484574   PMID:20600589   PMID:20814572   PMID:20875820   PMID:20978232   PMID:21233288   PMID:21236345   PMID:21285318   PMID:21291857   PMID:21320486   PMID:21562756   PMID:21645192  
PMID:21835890   PMID:21873635   PMID:21926268   PMID:21988832   PMID:22037462   PMID:22340213   PMID:22379109   PMID:22685300   PMID:22685329   PMID:22863883   PMID:23055524   PMID:23145131  
PMID:23246927   PMID:23291133   PMID:23383273   PMID:23414517   PMID:23752268   PMID:23762377   PMID:23891720   PMID:23909487   PMID:23977033   PMID:23986476   PMID:24763056   PMID:24813896  
PMID:24879834   PMID:25241761   PMID:25260751   PMID:25416956   PMID:25622892   PMID:25780039   PMID:25814554   PMID:25921289   PMID:26073777   PMID:26186194   PMID:26194181   PMID:26459602  
PMID:26473288   PMID:26583432   PMID:26638075   PMID:26731990   PMID:27075719   PMID:27173435   PMID:27300007   PMID:28514442   PMID:28902365   PMID:29361527   PMID:29467281   PMID:29523594  
PMID:29568061   PMID:29791485   PMID:29792621   PMID:31091453   PMID:31515488   PMID:31732153   PMID:32203420   PMID:32235678   PMID:32296183   PMID:32339379   PMID:32807901   PMID:33239621  
PMID:33462405   PMID:33597720   PMID:33961781   PMID:34079125   PMID:34369648   PMID:34709727   PMID:34882091   PMID:35256949   PMID:35271311   PMID:35384245   PMID:35439318   PMID:35831314  
PMID:35944360   PMID:35984564   PMID:35987950   PMID:36089417   PMID:36215168   PMID:36846720  


Genomics

Comparative Map Data
APPL1
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38357,227,729 - 57,273,471 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p13 Ensembl357,227,726 - 57,278,105 (+)EnsemblGRCh38hg38GRCh38
GRCh37357,261,757 - 57,307,499 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36357,236,805 - 57,282,539 (+)NCBINCBI36Build 36hg18NCBI36
Celera357,227,340 - 57,273,073 (+)NCBICelera
Cytogenetic Map3p14.3NCBI
HuRef357,310,967 - 57,356,664 (+)NCBIHuRef
CHM1_1357,211,913 - 57,257,646 (+)NCBICHM1_1
T2T-CHM13v2.0357,267,997 - 57,313,740 (+)NCBIT2T-CHM13v2.0
Appl1
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391426,640,943 - 26,692,567 (-)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl1426,640,945 - 26,693,189 (-)EnsemblGRCm39 Ensembl
GRCm381426,918,986 - 26,970,611 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1426,918,988 - 26,971,232 (-)EnsemblGRCm38mm10GRCm38
MGSCv371427,732,174 - 27,783,737 (-)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv361425,745,872 - 25,797,435 (-)NCBIMGSCv36mm8
Celera1423,158,676 - 23,210,368 (-)NCBICelera
Cytogenetic Map14A3NCBI
Appl1
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.2162,118,503 - 2,166,741 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl162,121,255 - 2,166,692 (-)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx162,125,142 - 2,173,305 (-)NCBIRnor_SHR
UTH_Rnor_SHRSP_BbbUtx_1.0163,270,829 - 3,318,993 (-)NCBIRnor_SHRSP
UTH_Rnor_WKY_Bbb_1.0162,131,417 - 2,179,844 (-)NCBIRnor_WKY
Rnor_6.0162,560,103 - 2,602,035 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl162,563,520 - 2,602,103 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.0162,534,851 - 2,581,754 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4162,180,613 - 2,227,905 (-)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.1162,179,191 - 2,228,173 (-)NCBI
Celera162,089,133 - 2,134,528 (-)NCBICelera
Cytogenetic Map16p16NCBI
Appl1
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049554306,986,759 - 7,018,938 (+)EnsemblChiLan1.0
ChiLan1.0NW_0049554306,986,977 - 7,018,938 (+)NCBIChiLan1.0ChiLan1.0
APPL1
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.1358,370,424 - 58,415,258 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl358,370,430 - 58,415,258 (+)Ensemblpanpan1.1panPan2
Mhudiblu_PPA_v0357,161,299 - 57,206,672 (+)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
APPL1
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.12033,123,577 - 33,166,831 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl2033,130,723 - 33,166,792 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha2033,051,161 - 33,094,218 (-)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.02033,395,990 - 33,439,031 (-)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl2033,402,695 - 33,439,040 (-)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.12032,845,010 - 32,887,864 (-)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.02033,203,498 - 33,246,471 (-)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.02033,374,797 - 33,418,067 (-)NCBIUU_Cfam_GSD_1.0
Appl1
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_024405118174,441,878 - 174,476,919 (+)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_0049364737,579,780 - 7,611,923 (+)EnsemblSpeTri2.0
SpeTri2.0NW_0049364737,580,495 - 7,647,471 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
APPL1
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl1339,089,077 - 39,129,781 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.11339,089,157 - 39,124,969 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
APPL1
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.12218,546,694 - 18,591,239 (+)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl2218,546,751 - 18,589,552 (+)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_023666041148,278,109 - 148,324,433 (-)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Appl1
(Heterocephalus glaber - naked mole-rat)
Naked Mole-rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_00462482233,880 - 74,308 (-)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_00462482231,175 - 74,252 (-)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in APPL1
59 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 3p21.1-14.1(chr3:54045018-66060461)x1 copy number loss See cases [RCV000051081] Chr3:54045018..66060461 [GRCh38]
Chr3:54079045..66046136 [GRCh37]
Chr3:54054085..66021176 [NCBI36]
Chr3:3p21.1-14.1		 pathogenic
NM_001142733.2(ASB14):c.1753G>A (p.Gly585Arg) single nucleotide variant Malignant melanoma [RCV000066164] Chr3:57276561 [GRCh38]
Chr3:57310589 [GRCh37]
Chr3:57285629 [NCBI36]
Chr3:3p14.3		 not provided
GRCh38/hg38 3p14.3-11.1(chr3:57140424-90259960)x1 copy number loss See cases [RCV000139626] Chr3:57140424..90259960 [GRCh38]
Chr3:57174452..90309110 [GRCh37]
Chr3:57149492..90391800 [NCBI36]
Chr3:3p14.3-11.1		 pathogenic
NM_012096.3(APPL1):c.1655T>A (p.Leu552Ter) single nucleotide variant Maturity-onset diabetes of the young type 14 [RCV000190336] Chr3:57260016 [GRCh38]
Chr3:57294044 [GRCh37]
Chr3:3p14.3		 pathogenic
NM_012096.3(APPL1):c.280G>A (p.Asp94Asn) single nucleotide variant Maturity-onset diabetes of the young type 14 [RCV000190337] Chr3:57238111 [GRCh38]
Chr3:57272139 [GRCh37]
Chr3:3p14.3		 pathogenic
GRCh37/hg19 3p21.2-14.2(chr3:52086599-59689209)x1 copy number loss See cases [RCV000239886] Chr3:52086599..59689209 [GRCh37]
Chr3:3p21.2-14.2		 pathogenic
GRCh37/hg19 3p26.3-q29(chr3:61892-197851986) copy number gain See cases [RCV000512358] Chr3:61892..197851986 [GRCh37]
Chr3:3p26.3-q29		 pathogenic
GRCh37/hg19 3p26.3-q29(chr3:61892-197851986)x3 copy number gain See cases [RCV000511055] Chr3:61892..197851986 [GRCh37]
Chr3:3p26.3-q29		 pathogenic
GRCh37/hg19 3p26.3-q29(chr3:61495-197838262)x3 copy number gain not provided [RCV000742138] Chr3:61495..197838262 [GRCh37]
Chr3:3p26.3-q29		 pathogenic
GRCh37/hg19 3p26.3-q29(chr3:60174-197948027)x3 copy number gain not provided [RCV000742133] Chr3:60174..197948027 [GRCh37]
Chr3:3p26.3-q29		 pathogenic
NM_012096.3(APPL1):c.1052+31T>C single nucleotide variant not provided [RCV001644391] Chr3:57249579 [GRCh38]
Chr3:57283607 [GRCh37]
Chr3:3p14.3		 benign
NM_012096.3(APPL1):c.219T>C (p.Phe73=) single nucleotide variant Maturity-onset diabetes of the young type 14 [RCV002502994]|not provided [RCV000958673] Chr3:57238050 [GRCh38]
Chr3:57272078 [GRCh37]
Chr3:3p14.3		 benign|likely benign
NM_012096.3(APPL1):c.2072G>A (p.Ser691Asn) single nucleotide variant Inborn genetic diseases [RCV002569256]|not provided [RCV001963910] Chr3:57269629 [GRCh38]
Chr3:57303657 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_012096.3(APPL1):c.1002C>G (p.Asp334Glu) single nucleotide variant Maturity-onset diabetes of the young type 14 [RCV003117635]|not provided [RCV000884400] Chr3:57249498 [GRCh38]
Chr3:57283526 [GRCh37]
Chr3:3p14.3		 benign|likely benign
NM_012096.3(APPL1):c.1206A>G (p.Pro402=) single nucleotide variant not provided [RCV000963820] Chr3:57257010 [GRCh38]
Chr3:57291038 [GRCh37]
Chr3:3p14.3		 benign|likely benign
NM_012096.3(APPL1):c.256T>C (p.Leu86=) single nucleotide variant Maturity-onset diabetes of the young type 14 [RCV002507568]|not provided [RCV000886000]|not specified [RCV001553557] Chr3:57238087 [GRCh38]
Chr3:57272115 [GRCh37]
Chr3:3p14.3		 benign|likely benign
GRCh37/hg19 3p14.3-14.1(chr3:57076136-65716956)x1 copy number loss not provided [RCV000846379] Chr3:57076136..65716956 [GRCh37]
Chr3:3p14.3-14.1		 pathogenic
NC_000003.11:g.(?_57130421)_(58520833_?)del deletion Pyruvate dehydrogenase E1-beta deficiency [RCV003105375] Chr3:57130421..58520833 [GRCh37]
Chr3:3p14.3		 uncertain significance
NC_000003.11:g.(?_57130421)_(57303715_?)dup duplication Septo-optic dysplasia sequence [RCV003107767] Chr3:57130421..57303715 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_012096.3(APPL1):c.214-160G>A single nucleotide variant not provided [RCV001661023] Chr3:57237885 [GRCh38]
Chr3:57271913 [GRCh37]
Chr3:3p14.3		 benign
NM_012096.3(APPL1):c.36G>C (p.Thr12=) single nucleotide variant not provided [RCV001540943]|not specified [RCV001821860] Chr3:57227919 [GRCh38]
Chr3:57261947 [GRCh37]
Chr3:3p14.3		 benign
NM_012096.3(APPL1):c.1695+114T>C single nucleotide variant not provided [RCV001694740] Chr3:57260267 [GRCh38]
Chr3:57294295 [GRCh37]
Chr3:3p14.3		 benign
NM_012096.3(APPL1):c.1658+38C>G single nucleotide variant not provided [RCV001665859] Chr3:57260057 [GRCh38]
Chr3:57294085 [GRCh37]
Chr3:3p14.3		 benign
NM_012096.3(APPL1):c.1695+48T>C single nucleotide variant not provided [RCV001635830] Chr3:57260201 [GRCh38]
Chr3:57294229 [GRCh37]
Chr3:3p14.3		 benign
NM_012096.3(APPL1):c.1483+189T>C single nucleotide variant not provided [RCV001674973] Chr3:57259269 [GRCh38]
Chr3:57293297 [GRCh37]
Chr3:3p14.3		 benign
NM_012096.3(APPL1):c.1842+312G>A single nucleotide variant not provided [RCV001659308] Chr3:57261086 [GRCh38]
Chr3:57295114 [GRCh37]
Chr3:3p14.3		 benign
NM_012096.3(APPL1):c.1152+184G>A single nucleotide variant not provided [RCV001597837] Chr3:57253922 [GRCh38]
Chr3:57287950 [GRCh37]
Chr3:3p14.3		 benign
NM_012096.3(APPL1):c.863+293C>T single nucleotide variant not provided [RCV001688719] Chr3:57248644 [GRCh38]
Chr3:57282672 [GRCh37]
Chr3:3p14.3		 benign
NM_012096.3(APPL1):c.54+63C>T single nucleotide variant not provided [RCV001674218] Chr3:57228000 [GRCh38]
Chr3:57262028 [GRCh37]
Chr3:3p14.3		 benign
NM_012096.3(APPL1):c.1484-71A>G single nucleotide variant not provided [RCV001715259] Chr3:57259774 [GRCh38]
Chr3:57293802 [GRCh37]
Chr3:3p14.3		 benign
NM_012096.3(APPL1):c.704+78T>C single nucleotide variant not provided [RCV001649656] Chr3:57247555 [GRCh38]
Chr3:57281583 [GRCh37]
Chr3:3p14.3		 benign
NM_012096.3(APPL1):c.1894-294dup duplication not provided [RCV001676566] Chr3:57268092..57268093 [GRCh38]
Chr3:57302120..57302121 [GRCh37]
Chr3:3p14.3		 benign
NM_012096.3(APPL1):c.705-211T>C single nucleotide variant not provided [RCV001638457] Chr3:57247982 [GRCh38]
Chr3:57282010 [GRCh37]
Chr3:3p14.3		 benign
NM_012096.3(APPL1):c.1052+221dup duplication not provided [RCV001617814] Chr3:57249766..57249767 [GRCh38]
Chr3:57283794..57283795 [GRCh37]
Chr3:3p14.3		 benign
NM_012096.3(APPL1):c.415+96del deletion not provided [RCV001714731] Chr3:57242231 [GRCh38]
Chr3:57276259 [GRCh37]
Chr3:3p14.3		 benign
NM_012096.3(APPL1):c.1842+89_1842+93del microsatellite not provided [RCV001685580] Chr3:57260857..57260861 [GRCh38]
Chr3:57294885..57294889 [GRCh37]
Chr3:3p14.3		 benign
NM_012096.3(APPL1):c.136C>T (p.Arg46Trp) single nucleotide variant not provided [RCV001354558] Chr3:57235647 [GRCh38]
Chr3:57269675 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_012096.3(APPL1):c.2099A>G (p.Glu700Gly) single nucleotide variant not provided [RCV001519700] Chr3:57269656 [GRCh38]
Chr3:57303684 [GRCh37]
Chr3:3p14.3		 benign
NM_012096.3(APPL1):c.1842+96_1842+99del microsatellite not provided [RCV001716711] Chr3:57260865..57260868 [GRCh38]
Chr3:57294893..57294896 [GRCh37]
Chr3:3p14.3		 benign
NM_012096.3(APPL1):c.285+6C>T single nucleotide variant not provided [RCV001520787] Chr3:57238122 [GRCh38]
Chr3:57272150 [GRCh37]
Chr3:3p14.3		 benign
NM_012096.3(APPL1):c.-18C>T single nucleotide variant not provided [RCV001650321] Chr3:57227866 [GRCh38]
Chr3:57261894 [GRCh37]
Chr3:3p14.3		 benign
NM_012096.3(APPL1):c.1984-88_1984-87insTTGAA insertion not provided [RCV001618110] Chr3:57269450..57269451 [GRCh38]
Chr3:57303478..57303479 [GRCh37]
Chr3:3p14.3		 benign
NM_012096.3(APPL1):c.69A>G (p.Leu23=) single nucleotide variant Maturity-onset diabetes of the young type 14 [RCV001803355]|not provided [RCV001522865] Chr3:57235580 [GRCh38]
Chr3:57269608 [GRCh37]
Chr3:3p14.3		 benign
NM_012096.3(APPL1):c.621+5A>G single nucleotide variant not provided [RCV001520788] Chr3:57246227 [GRCh38]
Chr3:57280255 [GRCh37]
Chr3:3p14.3		 benign
NM_012096.3(APPL1):c.1930_1933del (p.Glu643_Arg644insTer) microsatellite not provided [RCV001755359]|not specified [RCV001821996] Chr3:57268430..57268433 [GRCh38]
Chr3:57302458..57302461 [GRCh37]
Chr3:3p14.3		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_012096.3(APPL1):c.1894-294del deletion not provided [RCV001768112] Chr3:57268093 [GRCh38]
Chr3:57302121 [GRCh37]
Chr3:3p14.3		 likely benign
NM_012096.3(APPL1):c.373+248_373+256del deletion not provided [RCV001769697] Chr3:57240799..57240807 [GRCh38]
Chr3:57274827..57274835 [GRCh37]
Chr3:3p14.3		 likely benign
NM_012096.3(APPL1):c.621+296C>T single nucleotide variant not provided [RCV001757743] Chr3:57246518 [GRCh38]
Chr3:57280546 [GRCh37]
Chr3:3p14.3		 likely benign
NM_012096.3(APPL1):c.1893+174C>T single nucleotide variant not provided [RCV001769938] Chr3:57267966 [GRCh38]
Chr3:57301994 [GRCh37]
Chr3:3p14.3		 likely benign
NM_012096.3(APPL1):c.1961A>G (p.Asn654Ser) single nucleotide variant not provided [RCV001752913] Chr3:57268465 [GRCh38]
Chr3:57302493 [GRCh37]
Chr3:3p14.3		 likely benign|conflicting interpretations of pathogenicity
NM_012096.3(APPL1):c.474+182A>G single nucleotide variant not provided [RCV001769778] Chr3:57243096 [GRCh38]
Chr3:57277124 [GRCh37]
Chr3:3p14.3		 likely benign
NM_012096.3(APPL1):c.1631A>C (p.His544Pro) single nucleotide variant not provided [RCV001816361] Chr3:57259992 [GRCh38]
Chr3:57294020 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_012096.3(APPL1):c.864-226T>C single nucleotide variant not provided [RCV001769741] Chr3:57249134 [GRCh38]
Chr3:57283162 [GRCh37]
Chr3:3p14.3		 likely benign
NM_012096.3(APPL1):c.1431-44A>T single nucleotide variant not provided [RCV001757732] Chr3:57258984 [GRCh38]
Chr3:57293012 [GRCh37]
Chr3:3p14.3		 likely benign
Single allele single nucleotide variant not provided [RCV001774936] Chr3:57227627 [GRCh38]
Chr3:57261655 [GRCh37]
Chr3:3p14.3		 likely benign
NM_012096.3(APPL1):c.1842+321del deletion not provided [RCV001758937] Chr3:57261095 [GRCh38]
Chr3:57295123 [GRCh37]
Chr3:3p14.3		 likely benign
NM_012096.3(APPL1):c.-151G>C single nucleotide variant not provided [RCV001759374] Chr3:57227733 [GRCh38]
Chr3:57261761 [GRCh37]
Chr3:3p14.3		 likely benign
NM_012096.3(APPL1):c.2018C>G (p.Ser673Cys) single nucleotide variant not provided [RCV001885324]|not specified [RCV001817426] Chr3:57269575 [GRCh38]
Chr3:57303603 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_012096.3(APPL1):c.285+215C>T single nucleotide variant not provided [RCV001753025] Chr3:57238331 [GRCh38]
Chr3:57272359 [GRCh37]
Chr3:3p14.3		 likely benign
NM_012096.3(APPL1):c.704+92C>T single nucleotide variant not provided [RCV001752872] Chr3:57247569 [GRCh38]
Chr3:57281597 [GRCh37]
Chr3:3p14.3		 likely benign
NM_012096.3(APPL1):c.55-266G>C single nucleotide variant not provided [RCV001753103] Chr3:57235300 [GRCh38]
Chr3:57269328 [GRCh37]
Chr3:3p14.3		 likely benign
NM_012096.3(APPL1):c.1430+9dup duplication not provided [RCV002074278]|not specified [RCV001817280] Chr3:57257436..57257437 [GRCh38]
Chr3:57291464..57291465 [GRCh37]
Chr3:3p14.3		 benign|likely benign
NM_012096.3(APPL1):c.416-194A>G single nucleotide variant not provided [RCV001757680] Chr3:57242662 [GRCh38]
Chr3:57276690 [GRCh37]
Chr3:3p14.3		 likely benign
NM_012096.3(APPL1):c.1247+40C>G single nucleotide variant not provided [RCV001753180] Chr3:57257091 [GRCh38]
Chr3:57291119 [GRCh37]
Chr3:3p14.3		 likely benign
NM_012096.3(APPL1):c.200A>G (p.Glu67Gly) single nucleotide variant not provided [RCV002074288]|not specified [RCV001817528] Chr3:57237538 [GRCh38]
Chr3:57271566 [GRCh37]
Chr3:3p14.3		 benign
NM_012096.3(APPL1):c.1262C>T (p.Pro421Leu) single nucleotide variant Maturity-onset diabetes of the young type 14 [RCV002489865]|not provided [RCV002077274]|not specified [RCV001822187] Chr3:57257260 [GRCh38]
Chr3:57291288 [GRCh37]
Chr3:3p14.3		 benign|likely benign
NM_012096.3(APPL1):c.1034C>T (p.Thr345Ile) single nucleotide variant not provided [RCV001896764] Chr3:57249530 [GRCh38]
Chr3:57283558 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_012096.3(APPL1):c.2127A>G (p.Ala709=) single nucleotide variant not provided [RCV001945665] Chr3:57269684 [GRCh38]
Chr3:57303712 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_012096.3(APPL1):c.446G>A (p.Arg149His) single nucleotide variant not provided [RCV002004686] Chr3:57242886 [GRCh38]
Chr3:57276914 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_012096.3(APPL1):c.1255C>T (p.Arg419Trp) single nucleotide variant not provided [RCV001922368] Chr3:57257253 [GRCh38]
Chr3:57291281 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_012096.3(APPL1):c.1695+12A>G single nucleotide variant not provided [RCV002017981] Chr3:57260165 [GRCh38]
Chr3:57294193 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_012096.3(APPL1):c.1060A>G (p.Ile354Val) single nucleotide variant not provided [RCV001924878] Chr3:57252276 [GRCh38]
Chr3:57286304 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_012096.3(APPL1):c.313A>G (p.Thr105Ala) single nucleotide variant not provided [RCV001867851] Chr3:57240492 [GRCh38]
Chr3:57274520 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_012096.3(APPL1):c.1926A>G (p.Ile642Met) single nucleotide variant Maturity-onset diabetes of the young type 14 [RCV002225187]|not provided [RCV003101285] Chr3:57268430 [GRCh38]
Chr3:57302458 [GRCh37]
Chr3:3p14.3		 likely benign
NM_012096.3(APPL1):c.9G>A (p.Gly3=) single nucleotide variant not provided [RCV002151357] Chr3:57227892 [GRCh38]
Chr3:57261920 [GRCh37]
Chr3:3p14.3		 benign
NM_012096.3(APPL1):c.1263G>T (p.Pro421=) single nucleotide variant not provided [RCV002141703] Chr3:57257261 [GRCh38]
Chr3:57291289 [GRCh37]
Chr3:3p14.3		 likely benign
NM_001142733.3(ASB14):c.*1147T>C single nucleotide variant not provided [RCV002178063] Chr3:57268494 [GRCh38]
Chr3:57302522 [GRCh37]
Chr3:3p14.3		 likely benign
NM_012096.3(APPL1):c.54+10G>A single nucleotide variant not provided [RCV002161808] Chr3:57227947 [GRCh38]
Chr3:57261975 [GRCh37]
Chr3:3p14.3		 likely benign
NM_012096.3(APPL1):c.571A>C (p.Lys191Gln) single nucleotide variant not provided [RCV002102817] Chr3:57246172 [GRCh38]
Chr3:57280200 [GRCh37]
Chr3:3p14.3		 likely benign
NM_012096.3(APPL1):c.1686A>G (p.Thr562=) single nucleotide variant not provided [RCV002201671] Chr3:57260144 [GRCh38]
Chr3:57294172 [GRCh37]
Chr3:3p14.3		 likely benign
NM_012096.3(APPL1):c.1053-16G>A single nucleotide variant not provided [RCV002199023] Chr3:57252253 [GRCh38]
Chr3:57286281 [GRCh37]
Chr3:3p14.3		 likely benign
NM_012096.3(APPL1):c.214-18C>A single nucleotide variant not provided [RCV002142679] Chr3:57238027 [GRCh38]
Chr3:57272055 [GRCh37]
Chr3:3p14.3		 likely benign
NM_001142733.3(ASB14):c.*120dup duplication not provided [RCV003120144] Chr3:57269520..57269521 [GRCh38]
Chr3:57303548..57303549 [GRCh37]
Chr3:3p14.3		 benign
NM_012096.3(APPL1):c.374-9C>T single nucleotide variant Maturity-onset diabetes of the young type 14 [RCV003120307] Chr3:57242092 [GRCh38]
Chr3:57276120 [GRCh37]
Chr3:3p14.3		 likely benign
NM_012096.3(APPL1):c.797C>T (p.Pro266Leu) single nucleotide variant not provided [RCV002295605] Chr3:57248285 [GRCh38]
Chr3:57282313 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_012096.3(APPL1):c.1376C>G (p.Ser459Cys) single nucleotide variant not provided [RCV002296763] Chr3:57257374 [GRCh38]
Chr3:57291402 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_012096.3(APPL1):c.1165C>T (p.Arg389Ter) single nucleotide variant not provided [RCV002512228] Chr3:57256969 [GRCh38]
Chr3:57290997 [GRCh37]
Chr3:3p14.3		 likely pathogenic
NM_012096.3(APPL1):c.1701A>G (p.Pro567_Leu568=) single nucleotide variant not provided [RCV003075999] Chr3:57260633 [GRCh38]
Chr3:57294661 [GRCh37]
Chr3:3p14.3		 likely benign
NM_012096.3(APPL1):c.432_433insTTTTTTTTTTTTTTTTTTTTNNNNNNNNNNACCTTGTGATCCACCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCTCCCGGCCCCCCGATGCTGCGATT (p.Asn145delinsPhePhePhePhePhePheXaaXaaXaaXaaThrLeuTer) insertion not provided [RCV002881302] Chr3:57242860..57242861 [GRCh38]
Chr3:57276888..57276889 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_012096.3(APPL1):c.1776C>T (p.Ser592_Gly593=) single nucleotide variant not provided [RCV002903381] Chr3:57260708 [GRCh38]
Chr3:57294736 [GRCh37]
Chr3:3p14.3		 benign
NM_012096.3(APPL1):c.1187A>T (p.Glu396Val) single nucleotide variant not provided [RCV003022090] Chr3:57256991 [GRCh38]
Chr3:57291019 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_012096.3(APPL1):c.308T>G (p.Leu103Arg) single nucleotide variant not provided [RCV002761406] Chr3:57240487 [GRCh38]
Chr3:57274515 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_012096.3(APPL1):c.2046G>A (p.Glu682_Gly683=) single nucleotide variant not provided [RCV003003077] Chr3:57269603 [GRCh38]
Chr3:57303631 [GRCh37]
Chr3:3p14.3		 likely benign
NM_012096.3(APPL1):c.1545T>A (p.Asp515Glu) single nucleotide variant Inborn genetic diseases [RCV002952331] Chr3:57259906 [GRCh38]
Chr3:57293934 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_012096.3(APPL1):c.1546G>T (p.Asp516Tyr) single nucleotide variant Inborn genetic diseases [RCV002978006] Chr3:57259907 [GRCh38]
Chr3:57293935 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_012096.3(APPL1):c.1089T>C (p.His363_Glu364=) single nucleotide variant not provided [RCV002976200] Chr3:57252305 [GRCh38]
Chr3:57286333 [GRCh37]
Chr3:3p14.3		 likely benign
NM_012096.3(APPL1):c.622-17C>A single nucleotide variant not provided [RCV002781069] Chr3:57247378 [GRCh38]
Chr3:57281406 [GRCh37]
Chr3:3p14.3		 benign
NM_012096.3(APPL1):c.637A>C (p.Met213Leu) single nucleotide variant not provided [RCV002620127] Chr3:57247410 [GRCh38]
Chr3:57281438 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_012096.3(APPL1):c.548G>A (p.Cys183Tyr) single nucleotide variant Inborn genetic diseases [RCV002844631] Chr3:57246149 [GRCh38]
Chr3:57280177 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_012096.3(APPL1):c.1321C>G (p.Leu441Val) single nucleotide variant not provided [RCV002639124] Chr3:57257319 [GRCh38]
Chr3:57291347 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_012096.3(APPL1):c.1842+6T>C single nucleotide variant not provided [RCV002894168] Chr3:57260780 [GRCh38]
Chr3:57294808 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_012096.3(APPL1):c.1220G>T (p.Arg407Met) single nucleotide variant Inborn genetic diseases [RCV002825905] Chr3:57257024 [GRCh38]
Chr3:57291052 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_012096.3(APPL1):c.770C>A (p.Ala257Asp) single nucleotide variant Inborn genetic diseases [RCV002762962] Chr3:57248258 [GRCh38]
Chr3:57282286 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_012096.3(APPL1):c.1775G>A (p.Ser592Asn) single nucleotide variant not provided [RCV002740770] Chr3:57260707 [GRCh38]
Chr3:57294735 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_012096.3(APPL1):c.1893+18G>A single nucleotide variant not provided [RCV002710802] Chr3:57267810 [GRCh38]
Chr3:57301838 [GRCh37]
Chr3:3p14.3		 likely benign
NM_012096.3(APPL1):c.750A>G (p.Thr250_Ile251=) single nucleotide variant not provided [RCV002577767] Chr3:57248238 [GRCh38]
Chr3:57282266 [GRCh37]
Chr3:3p14.3		 likely benign
NM_012096.3(APPL1):c.1933G>C (p.Val645Leu) single nucleotide variant Inborn genetic diseases [RCV002879199] Chr3:57268437 [GRCh38]
Chr3:57302465 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_012096.3(APPL1):c.839A>T (p.Lys280Met) single nucleotide variant not provided [RCV002715775] Chr3:57248327 [GRCh38]
Chr3:57282355 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_012096.3(APPL1):c.1888G>C (p.Glu630Gln) single nucleotide variant not provided [RCV003091138] Chr3:57267787 [GRCh38]
Chr3:57301815 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_012096.3(APPL1):c.117G>C (p.Gln39His) single nucleotide variant not provided [RCV002587005] Chr3:57235628 [GRCh38]
Chr3:57269656 [GRCh37]
Chr3:3p14.3		 uncertain significance
NM_012096.3(APPL1):c.2111A>G (p.Lys704Arg) single nucleotide variant not provided [RCV002634573] Chr3:57269668 [GRCh38]
Chr3:57303696 [GRCh37]
Chr3:3p14.3		 uncertain significance
miRNA Target Status

Confirmed Target Of
miRNA GeneMature miRNAMethod NameResult TypeData TypeSupport TypePMID
MIR96hsa-miR-96-5pTarbaseexternal_infoSequencingPOSITIVE

Predicted Target Of
Summary Value
Count of predictions:2003
Count of miRNA genes:1021
Interacting mature miRNAs:1243
Transcripts:ENST00000288266, ENST00000444459, ENST00000464446, ENST00000468342, ENST00000482800, ENST00000488530, ENST00000492501, ENST00000495803
Prediction methods: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.


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 2207 1764 1279 261 1137 110 4292 1885 2315 302 1371 1588 165 1184 2753 4
Low 232 1215 447 363 801 355 65 312 1419 117 89 25 10 1 20 35 2 2
Below cutoff 12 13

Sequence


Reference Sequences
RefSeq Acc Id: ENST00000288266   ⟹   ENSP00000288266
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl357,227,729 - 57,273,471 (+)Ensembl
RefSeq Acc Id: ENST00000444459   ⟹   ENSP00000406095
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl357,227,874 - 57,242,892 (+)Ensembl
RefSeq Acc Id: ENST00000464446
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl357,253,682 - 57,260,439 (+)Ensembl
RefSeq Acc Id: ENST00000468342
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl357,227,839 - 57,238,205 (+)Ensembl
RefSeq Acc Id: ENST00000482800
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl357,227,789 - 57,268,021 (+)Ensembl
RefSeq Acc Id: ENST00000488530
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl357,258,763 - 57,267,792 (+)Ensembl
RefSeq Acc Id: ENST00000492501
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl357,259,793 - 57,260,434 (+)Ensembl
RefSeq Acc Id: ENST00000495803   ⟹   ENSP00000419644
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl357,227,831 - 57,242,142 (+)Ensembl
RefSeq Acc Id: ENST00000650354   ⟹   ENSP00000498115
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl357,227,726 - 57,278,105 (+)Ensembl
RefSeq Acc Id: NM_012096   ⟹   NP_036228
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38357,227,729 - 57,273,471 (+)NCBI
GRCh37357,261,765 - 57,307,499 (+)ENTREZGENE
Build 36357,236,805 - 57,282,539 (+)NCBI Archive
HuRef357,310,967 - 57,356,664 (+)ENTREZGENE
CHM1_1357,211,913 - 57,257,646 (+)NCBI
T2T-CHM13v2.0357,267,997 - 57,313,740 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011533583   ⟹   XP_011531885
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38357,227,729 - 57,273,471 (+)NCBI
Sequence:
RefSeq Acc Id: XM_054346145   ⟹   XP_054202120
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0357,267,997 - 57,313,740 (+)NCBI
Reference Sequences
RefSeq Acc Id: NP_036228   ⟸   NM_012096
- UniProtKB: Q9P2B9 (UniProtKB/Swiss-Prot),   Q9UKG1 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_011531885   ⟸   XM_011533583
- Peptide Label: isoform X1
- Sequence:
RefSeq Acc Id: ENSP00000498115   ⟸   ENST00000650354
RefSeq Acc Id: ENSP00000419644   ⟸   ENST00000495803
RefSeq Acc Id: ENSP00000406095   ⟸   ENST00000444459
RefSeq Acc Id: ENSP00000288266   ⟸   ENST00000288266
RefSeq Acc Id: XP_054202120   ⟸   XM_054346145
- Peptide Label: isoform X1
Protein Domains
BAR   PH   PID

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q9UKG1-F1-model_v2 AlphaFold Q9UKG1 1-709 view protein structure

Promoters
RGD ID:6864790
Promoter ID:EPDNEW_H5560
Type:initiation region
Name:APPL1_1
Description:adaptor protein, phosphotyrosine interacting with PH domain andleucine zipper 1
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H5561  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38357,227,766 - 57,227,826EPDNEW
RGD ID:6864792
Promoter ID:EPDNEW_H5561
Type:initiation region
Name:APPL1_2
Description:adaptor protein, phosphotyrosine interacting with PH domain andleucine zipper 1
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H5560  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38357,227,870 - 57,227,930EPDNEW
RGD ID:6800619
Promoter ID:HG_KWN:45342
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   HeLa_S3,   Jurkat,   K562,   Lymphoblastoid,   NB4
Transcripts:ENST00000288266,   OTTHUMT00000258197,   UC010HNB.1
Position:
Human AssemblyChrPosition (strand)Source
Build 36357,236,436 - 57,236,936 (+)MPROMDB

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:24035 AgrOrtholog
COSMIC APPL1 COSMIC
Ensembl Genes ENSG00000157500 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Protein ENSP00000288266 ENTREZGENE
  ENSP00000288266.3 UniProtKB/Swiss-Prot
  ENSP00000406095.1 UniProtKB/TrEMBL
  ENSP00000419644.1 UniProtKB/TrEMBL
  ENSP00000498115.1 UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000288266 ENTREZGENE
  ENST00000288266.8 UniProtKB/Swiss-Prot
  ENST00000444459.1 UniProtKB/TrEMBL
  ENST00000495803.5 UniProtKB/TrEMBL
  ENST00000650354.1 UniProtKB/Swiss-Prot
Gene3D-CATH 1.20.1270.60 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  2.30.29.30 UniProtKB/Swiss-Prot
GTEx ENSG00000157500 GTEx
HGNC ID HGNC:24035 ENTREZGENE
Human Proteome Map APPL1 Human Proteome Map
InterPro AH/BAR_dom_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  APPL1_BAR UniProtKB/Swiss-Prot
  PH-like_dom_sf UniProtKB/Swiss-Prot
  PH_domain UniProtKB/Swiss-Prot
  PTB/PI_dom UniProtKB/Swiss-Prot
KEGG Report hsa:26060 UniProtKB/Swiss-Prot
NCBI Gene 26060 ENTREZGENE
OMIM 604299 OMIM
PANTHER ADAPTOR PROTEIN, PHOSPHOTYROSINE INTERACTION, PH DOMAIN AND LEUCINE ZIPPER-CONTAINING 2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  DCC-INTERACTING PROTEIN 13-ALPHA UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam BAR_3 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PF00169 UniProtKB/Swiss-Prot
  PID UniProtKB/Swiss-Prot
PharmGKB PA162376755 PharmGKB
PROSITE PH_DOMAIN UniProtKB/Swiss-Prot
  PID UniProtKB/Swiss-Prot
SMART PTB UniProtKB/Swiss-Prot
  SM00233 UniProtKB/Swiss-Prot
Superfamily-SCOP PH domain-like UniProtKB/Swiss-Prot
  SSF103657 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt C9JAB0_HUMAN UniProtKB/TrEMBL
  C9K0C4_HUMAN UniProtKB/TrEMBL
  DP13A_HUMAN UniProtKB/Swiss-Prot
  Q9P2B9 ENTREZGENE
  Q9UKG1 ENTREZGENE
UniProt Secondary Q9P2B9 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2016-03-21 APPL1  adaptor protein, phosphotyrosine interacting with PH domain and leucine zipper 1  APPL1  adaptor protein, phosphotyrosine interaction, PH domain and leucine zipper containing 1  Symbol and/or name change 5135510 APPROVED