APH1A (aph-1 homolog A, gamma-secretase subunit) - Rat Genome Database

Send us a Message



Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   
Gene: APH1A (aph-1 homolog A, gamma-secretase subunit) Homo sapiens
Analyze
Symbol: APH1A
Name: aph-1 homolog A, gamma-secretase subunit
RGD ID: 1349695
HGNC Page HGNC:29509
Description: Enables endopeptidase activator activity and protein-macromolecule adaptor activity. Involved in Notch receptor processing; amyloid-beta formation; and proteolysis. Located in Golgi apparatus; endoplasmic reticulum; and plasma membrane. Part of gamma-secretase complex.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: 6530402N02Rik; anterior pharynx defective 1 homolog A; APH-1; aph-1 homolog A, gamma secretase subunit; APH-1A; aph-1alpha; APH1A gamma secretase subunit; CGI-78; gamma-secretase subunit APH-1A; presenilin-stabilization factor
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
GRCh381150,265,404 - 150,269,016 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1150,265,399 - 150,269,580 (-)EnsemblGRCh38hg38GRCh38
GRCh371150,237,804 - 150,241,416 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361148,504,423 - 148,508,156 (-)NCBINCBI36Build 36hg18NCBI36
Build 341147,050,878 - 147,054,384NCBI
Celera1123,353,530 - 123,357,263 (-)NCBICelera
Cytogenetic Map1q21.2NCBI
HuRef1121,616,466 - 121,620,276 (-)NCBIHuRef
CHM1_11151,633,525 - 151,637,335 (-)NCBICHM1_1
T2T-CHM13v2.01149,390,321 - 149,393,933 (-)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model



  
Object Symbol
Species
Term
Qualifier
Evidence
With
Reference
Notes
Source
Original Reference(s)
APH1AHumanAlzheimer's disease treatmentISORGD:155028613703123 RGD 
APH1AHumanAlzheimer's disease treatmentISORGD:155028613703122 RGD 
Object Symbol
Species
Term
Qualifier
Evidence
With
Reference
Notes
Source
Original Reference(s)
APH1AHumangastrointestinal stromal tumor  IAGPRGD:1267343158554872ClinVar Annotator: match by term: Gastrointestinal stromal tumorClinVarPMID:28492532
APH1AHumanimmunodeficiency 42  IAGPRGD:1518192258554872ClinVar Annotator: match by term: Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete more ...ClinVarPMID:28492532
APH1AHumanMHC class II deficiency  IAGPRGD:1518192258554872ClinVar Annotator: match by term: MHC class II deficiencyClinVarPMID:28492532
APH1AHumanparathyroid carcinoma  IAGPRGD:1267343158554872ClinVar Annotator: match by term: Parathyroid carcinomaClinVarPMID:28492532
APH1AHumansevere congenital neutropenia 3  IAGPRGD:1518192258554872ClinVar Annotator: match by term: Kostmann syndromeClinVarPMID:28492532
APH1AHumansevere congenital neutropenia 5  IAGPRGD:151819225|RGD:1518337268554872ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndromeClinVarPMID:28492532

1 to 20 of 43 rows

  
Object Symbol
Species
Term
Qualifier
Evidence
With
Reference
Notes
Source
Original Reference(s)
APH1AHuman(+)-catechin multiple interactionsEXP 6480464[Catechin co-treated with Grape Seed Proanthocyanidins] results in increased expression of APH1A mRNACTDPMID:24763279
APH1AHuman1,2-dimethylhydrazine increases expressionISORGD:155028664804641,2-Dimethylhydrazine results in increased expression of APH1A mRNACTDPMID:22206623
APH1AHuman2,3,7,8-tetrachlorodibenzodioxine affects expressionISORGD:15502866480464Tetrachlorodibenzodioxin affects the expression of APH1A mRNACTDPMID:21570461
APH1AHuman4,4'-sulfonyldiphenol multiple interactionsISORGD:13115466480464[bisphenol A co-treated with bisphenol F co-treated with bisphenol S] results in decreased expression of more ...CTDPMID:36041667
APH1AHumanacrylamide decreases expressionISORGD:13115466480464Acrylamide results in decreased expression of APH1A mRNACTDPMID:28959563
APH1AHumanacrylamide decreases expressionEXP 6480464Acrylamide results in decreased expression of APH1A mRNACTDPMID:32763439
APH1AHumanacrylamide decreases expressionISORGD:15502866480464Acrylamide results in decreased expression of APH1A mRNACTDPMID:30807115
APH1AHumanarsane affects methylationEXP 6480464Arsenic affects the methylation of APH1A geneCTDPMID:25304211
APH1AHumanarsenic atom affects methylationEXP 6480464Arsenic affects the methylation of APH1A geneCTDPMID:25304211
APH1AHumanbis(2-ethylhexyl) phthalate decreases expressionISORGD:15502866480464Diethylhexyl Phthalate results in decreased expression of APH1A mRNACTDPMID:34319233
APH1AHumanbisphenol A increases expressionISORGD:13115466480464bisphenol A results in increased expression of APH1A mRNACTDPMID:25181051
APH1AHumanbisphenol A multiple interactionsISORGD:13115466480464[bisphenol A co-treated with bisphenol F co-treated with bisphenol S] results in decreased expression of more ...CTDPMID:36041667
APH1AHumanbisphenol A increases expressionISORGD:15502866480464bisphenol A results in increased expression of APH1A mRNACTDPMID:32156529|PMID:33221593
APH1AHumanbisphenol A decreases expressionEXP 6480464bisphenol A results in decreased expression of APH1A mRNACTDPMID:29275510
APH1AHumanbisphenol F multiple interactionsISORGD:13115466480464[bisphenol A co-treated with bisphenol F co-treated with bisphenol S] results in decreased expression of more ...CTDPMID:36041667
APH1AHumancadmium dichloride decreases expressionEXP 6480464Cadmium Chloride results in decreased expression of APH1A mRNACTDPMID:38568856
APH1AHumancannabidiol decreases expressionEXP 6480464Cannabidiol results in decreased expression of APH1A mRNACTDPMID:28025562
APH1AHumancarbon nanotube increases expressionISORGD:15502866480464Nanotubes, Carbon analog results in increased expression of APH1A mRNA; Nanotubes, Carbon results in increased more ...CTDPMID:25554681
APH1AHumanchlorpyrifos increases expressionISORGD:15502866480464Chlorpyrifos results in increased expression of APH1A mRNACTDPMID:37019170
APH1AHumancholine multiple interactionsISORGD:15502866480464[Methionine deficiency co-treated with Choline deficiency co-treated with Folic Acid deficiency] results in decreased expression more ...CTDPMID:20938992

1 to 20 of 43 rows

Biological Process
1 to 20 of 30 rows

  
Object Symbol
Species
Term
Qualifier
Evidence
With
Reference
Notes
Source
Original Reference(s)
APH1AHumanamyloid precursor protein catabolic process involved_inIGIUniProtKB:P05067|UniProtKB:P49768150520179 PMID:12763021ARUK-UCLPMID:12763021
APH1AHumanamyloid precursor protein catabolic process involved_inISSComplexPortal:CPX-2176150520179 ComplexPortalGO_REF:0000114
APH1AHumanamyloid precursor protein catabolic process involved_inTAS 150520179 PMID:15274632HGNC-UCLPMID:15274632
APH1AHumanamyloid precursor protein catabolic process involved_inIDA 150520179 PMID:15274632, PMID:27608597ComplexPortalPMID:15274632|PMID:27608597
APH1AHumanamyloid precursor protein catabolic process involved_inIMP 150520179 PMID:12297508UniProtPMID:12297508
APH1AHumanamyloid precursor protein metabolic process involved_inIDA 150520179 PMID:25043039, PMID:26280335UniProtPMID:25043039|PMID:26280335
APH1AHumanamyloid-beta formation involved_inIDA 150520179 PMID:27608597ARUK-UCLPMID:27608597
APH1AHumanamyloid-beta formation involved_inIMP 150520179 PMID:12297508, PMID:25043039, PMID:26280335UniProtPMID:12297508|PMID:25043039|PMID:26280335
APH1AHumanamyloid-beta formation involved_inIGIUniProtKB:P05067|UniProtKB:P49768150520179 PMID:12763021ARUK-UCLPMID:12763021
APH1AHumanmembrane protein ectodomain proteolysis involved_inIDA 150520179 PMID:15274632HGNC-UCLPMID:15274632
APH1AHumanmembrane protein intracellular domain proteolysis involved_inIDA 150520179 PMID:15274632ComplexPortalPMID:15274632
APH1AHumanmembrane protein intracellular domain proteolysis involved_inISSComplexPortal:CPX-2176150520179 ComplexPortalGO_REF:0000114
APH1AHumanmembrane protein intracellular domain proteolysis involved_inIMP 150520179 PMID:12297508UniProtPMID:12297508
APH1AHumanmetanephros development acts_upstream_of_or_withinIEAUniProtKB:Q8BVF7|ensembl:ENSMUSP00000058846150520179 EnsemblGO_REF:0000107
APH1AHumanNotch receptor processing involved_inTAS 150520179 PMID:15274632HGNC-UCLPMID:15274632
APH1AHumanNotch receptor processing acts_upstream_of_or_withinIEAUniProtKB:Q8BVF7|ensembl:ENSMUSP00000058846150520179 EnsemblGO_REF:0000107
APH1AHumanNotch receptor processing involved_inIBAFB:FBgn0031458|MGI:2385110|PANTHER:PTN000306733|UniProtKB:Q8WW43|UniProtKB:Q96BI3150520179 GO_CentralGO_REF:0000033
APH1AHumanNotch receptor processing involved_inNAS 150520179 PMID:10206645ComplexPortalPMID:10206645
APH1AHumanNotch receptor processing involved_inIMP 150520179 PMID:12297508UniProtPMID:12297508
APH1AHumanNotch receptor processing involved_inIDA 150520179 PMID:27608597ARUK-UCLPMID:27608597
1 to 20 of 30 rows

Cellular Component
1 to 20 of 32 rows

  
Object Symbol
Species
Term
Qualifier
Evidence
With
Reference
Notes
Source
Original Reference(s)
APH1AHumanearly endosome  ISORGD:13115469068941 RGDPMID:20126630|REF_RGD_ID:13702254
APH1AHumanearly endosome located_inIEAUniProtKB:A6K331|ensembl:ENSRNOP00000099913150520179 EnsemblGO_REF:0000107
APH1AHumanendoplasmic reticulum located_inIEAUniProtKB-KW:KW-0256150520179 UniProtGO_REF:0000043
APH1AHumanendoplasmic reticulum located_inIDA 150520179 PMID:15274632HGNC-UCLPMID:15274632
APH1AHumanendoplasmic reticulum is_active_inIBAPANTHER:PTN000306732|UniProtKB:Q96BI3|dictyBase:DDB_G0267976150520179 GO_CentralGO_REF:0000033
APH1AHumanendoplasmic reticulum membrane located_inIEAUniProtKB-SubCell:SL-0097150520179 UniProtGO_REF:0000044
APH1AHumanendoplasmic reticulum membrane located_inNAS 150520179 PMID:15274632ComplexPortalPMID:15274632
APH1AHumanendosome membrane located_inTAS 150520179 ReactomeReactome:R-HSA-9010096
APH1AHumangamma-secretase complex part_ofISSComplexPortal:CPX-2176150520179 ComplexPortalGO_REF:0000114
APH1AHumangamma-secretase complex part_ofIBAFB:FBgn0031458|MGI:1915568|MGI:3522097|PANTHER:PTN000306732|UniProtKB:Q8WW43|UniProtKB:Q96BI3|dictyBase:DDB_G0267976150520179 GO_CentralGO_REF:0000033
APH1AHumangamma-secretase complex part_ofIEAARBA:ARBA00049824150520179 UniProtGO_REF:0000117
APH1AHumangamma-secretase complex part_ofIEAUniRule:UR001693790150520179 UniProtGO_REF:0000104
APH1AHumangamma-secretase complex part_ofIDA 150520179 PMID:12297508, PMID:25043039, PMID:26280335UniProtPMID:12297508|PMID:25043039|PMID:26280335
APH1AHumangamma-secretase complex part_ofIPI 150520179 PMID:26280335ComplexPortalPMID:26280335
APH1AHumanGolgi apparatus located_inIDA 150520179 PMID:15274632HGNC-UCLPMID:15274632
APH1AHumanGolgi apparatus located_inIEAUniProtKB-KW:KW-0333150520179 UniProtGO_REF:0000043
APH1AHumanGolgi cisterna membrane located_inIEAUniProtKB-SubCell:SL-0136150520179 UniProtGO_REF:0000044
APH1AHumanGolgi membrane located_inNAS 150520179 PMID:15274632ComplexPortalPMID:15274632
APH1AHumanmembrane located_inIEAUniRule:UR001693790150520179 UniProtGO_REF:0000104
APH1AHumanmembrane located_inIEAUniProtKB-SubCell:SL-0162150520179 UniProtGO_REF:0000044
1 to 20 of 32 rows

Molecular Function
1 to 13 of 13 rows

  
Object Symbol
Species
Term
Qualifier
Evidence
With
Reference
Notes
Source
Original Reference(s)
APH1AHumanendopeptidase activator activity enablesIGIUniProtKB:P05067|UniProtKB:P49768150520179 PMID:12763021ARUK-UCLPMID:12763021
APH1AHumanendopeptidase activator activity enablesIMP 150520179 PMID:12297508ARUK-UCLPMID:12297508
APH1AHumanendopeptidase activator activity enablesIEAUniProtKB:Q8BVF7|ensembl:ENSMUSP00000058846150520179 EnsemblGO_REF:0000107
APH1AHumanenzyme binding enablesIEAUniProtKB:Q8BVF7|ensembl:ENSMUSP00000058846150520179 EnsemblGO_REF:0000107
APH1AHumanprotein binding  ISORGD:29379068941 RGDPMID:20145246|REF_RGD_ID:7242200
APH1AHumanprotein binding enablesIPIUniProtKB:Q92542150520179 PMID:12297508, PMID:18201567, PMID:19376115IntActPMID:12297508|PMID:18201567|PMID:19376115
APH1AHumanprotein binding enablesIPIUniProtKB:P49768|UniProtKB:Q92542150520179 PMID:26280335IntActPMID:26280335
APH1AHumanprotein binding enablesIPIUniProtKB:P49768150520179 PMID:25394380, PMID:30559186IntActPMID:25394380|PMID:30559186
APH1AHumanprotein binding enablesIPIUniProtKB:A2RU14|UniProtKB:A5PKU2|UniProtKB:O43561-2|UniProtKB:P05090|UniProtKB:P07306|UniProtKB:P24593|UniProtKB:P57086|UniProtKB:Q00013|UniProtKB:Q0VAQ4|UniProtKB:Q6ZSS7|UniProtKB:Q86W74-2|UniProtKB:Q96G30|UniProtKB:Q9H0Q3|UniProtKB:Q9NUM3|UniProtKB:Q9NV12|UniProtKB:Q9NVC3|UniProtKB:Q9Y3D6|UniProtKB:Q9Y6X1150520179 PMID:32296183IntActPMID:32296183
APH1AHumanprotein binding enablesIPIUniProtKB:P49768|UniProtKB:P49810|UniProtKB:Q92542150520179 PMID:12297508UniProtPMID:12297508
APH1AHumanprotein binding enablesIPIUniProtKB:P05067|UniProtKB:P06241|UniProtKB:P61158|UniProtKB:Q15438150520179 PMID:32814053IntActPMID:32814053
APH1AHumanprotein-macromolecule adaptor activity enablesIMP 150520179 PMID:12297508ARUK-UCLPMID:12297508
APH1AHumanprotein-macromolecule adaptor activity enablesIBAPANTHER:PTN000306732|UniProtKB:Q8WW43|UniProtKB:Q96BI3150520179 GO_CentralGO_REF:0000033
1 to 13 of 13 rows

RGD Manual Annotations


  
Object Symbol
Species
Term
Qualifier
Evidence
With
Reference
Notes
Source
Original Reference(s)
APH1AHumanNotch signaling pathway   TAS 2302204 RGD 

Imported Annotations - KEGG (archival)

Object Symbol
Species
Term
Qualifier
Evidence
With
Reference
Notes
Source
Original Reference(s)
APH1AHumanAlzheimer's disease pathway   IEA 6907045 KEGGhsa:05010
APH1AHumanNotch signaling pathway   IEA 6907045 KEGGhsa:04330

Imported Annotations - PID (archival)

Object Symbol
Species
Term
Qualifier
Evidence
With
Reference
Notes
Source
Original Reference(s)
APH1AHumanNotch signaling pathway   EXP 6484113 PIDPID:200015
APH1AHumansyndecan signaling pathway  EXP 6484113 PIDPID:200198
Object Symbol
Species
Term
Qualifier
Evidence
With
Reference
Notes
Source
Original Reference(s)
APH1AHumanGastrointestinal stroma tumor  IAGPRGD:1267343158554872ClinVar Annotator: match by term: Gastrointestinal stromal tumorClinVarPMID:28492532
APH1AHumanParathyroid carcinoma  IAGPRGD:1267343158554872ClinVar Annotator: match by term: Parathyroid carcinomaClinVarPMID:28492532

#
Reference Title
Reference Citation
1. Cell and molecular biology of Notch. Fiuza UM and Arias AM, J Endocrinol. 2007 Sep;194(3):459-74.
2. Protective effects of gingerol on streptozotocin-induced sporadic Alzheimer's disease: emphasis on inhibition of ß-amyloid, COX-2, alpha-, beta - secretases and APH1a. Halawany AME, etal., Sci Rep. 2017 Jun 6;7(1):2902. doi: 10.1038/s41598-017-02961-0.
3. [Effect of ßsheet blocking peptide H102 on APP metabolic enzymes in hippocampal brain of double transgenic AD mice]. Jiang F, etal., Zhongguo Ying Yong Sheng Li Xue Za Zhi. 2017 Apr 8;33(4):299-303. doi: 10.12047/j.cjap.5516.2017.073.
4. KEGG Annotation Import Pipeline Pipeline to import KEGG annotations from KEGG into RGD
5. PID Annotation Import Pipeline Pipeline to import Pathway Interaction Database annotations from NCI into RGD
6. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
PMID:10206645   PMID:10810093   PMID:12110170   PMID:12297508   PMID:12471034   PMID:12477932   PMID:12522139   PMID:12679784   PMID:12740439   PMID:12763021   PMID:12787561   PMID:12843241  
PMID:12857757   PMID:12917438   PMID:12972157   PMID:12975309   PMID:14572442   PMID:14593096   PMID:14627705   PMID:14702039   PMID:15210705   PMID:15257293   PMID:15274632   PMID:15286082  
PMID:15322084   PMID:15322109   PMID:15474363   PMID:15489334   PMID:15629423   PMID:15721744   PMID:16303743   PMID:16344560   PMID:16630834   PMID:16641999   PMID:16757808   PMID:17059559  
PMID:17207965   PMID:17911105   PMID:17986144   PMID:18201567   PMID:18667537   PMID:18801744   PMID:19028695   PMID:19322201   PMID:19368855   PMID:19369254   PMID:19376115   PMID:19946888  
PMID:20145246   PMID:20299451   PMID:20379614   PMID:20674680   PMID:21123562   PMID:21443683   PMID:21516116   PMID:21873635   PMID:21988832   PMID:22074918   PMID:22658674   PMID:22771797  
PMID:23253155   PMID:23291095   PMID:23864651   PMID:25043039   PMID:25056061   PMID:25394380   PMID:25918421   PMID:26280335   PMID:26738354   PMID:26760575   PMID:27059953   PMID:27608597  
PMID:28298427   PMID:28753424   PMID:30232004   PMID:30559186   PMID:31073040   PMID:32296183   PMID:32513696   PMID:32814053   PMID:33845483   PMID:33961781   PMID:34186245   PMID:35008932  
PMID:35271311  



APH1A
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381150,265,404 - 150,269,016 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1150,265,399 - 150,269,580 (-)EnsemblGRCh38hg38GRCh38
GRCh371150,237,804 - 150,241,416 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361148,504,423 - 148,508,156 (-)NCBINCBI36Build 36hg18NCBI36
Build 341147,050,878 - 147,054,384NCBI
Celera1123,353,530 - 123,357,263 (-)NCBICelera
Cytogenetic Map1q21.2NCBI
HuRef1121,616,466 - 121,620,276 (-)NCBIHuRef
CHM1_11151,633,525 - 151,637,335 (-)NCBICHM1_1
T2T-CHM13v2.01149,390,321 - 149,393,933 (-)NCBIT2T-CHM13v2.0
Aph1a
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39395,801,233 - 95,805,904 (+)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl395,801,281 - 95,805,600 (+)EnsemblGRCm39 Ensembl
GRCm38395,893,921 - 95,898,592 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl395,893,969 - 95,898,288 (+)EnsemblGRCm38mm10GRCm38
MGSCv37395,697,919 - 95,702,226 (+)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv36395,979,401 - 95,983,708 (+)NCBIMGSCv36mm8
Celera397,327,550 - 97,331,856 (+)NCBICelera
Cytogenetic Map3F2.1NCBI
cM Map341.47NCBI
Aph1a
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr82186,123,023 - 186,130,886 (+)NCBIGRCr8
mRatBN7.22183,437,676 - 183,443,113 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl2183,438,434 - 183,441,955 (+)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx2191,103,181 - 191,106,690 (+)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.02188,906,757 - 188,910,266 (+)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.02183,735,718 - 183,739,227 (+)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.02198,006,247 - 198,009,837 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl2198,006,316 - 198,009,830 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.02217,496,424 - 217,499,992 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.42190,679,692 - 190,683,202 (+)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.12190,642,445 - 190,645,954 (+)NCBI
Celera2175,967,700 - 175,971,210 (+)NCBICelera
Cytogenetic Map2q34NCBI
Aph1a
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_004955413506,297 - 509,787 (+)EnsemblChiLan1.0
ChiLan1.0NW_004955413506,297 - 509,787 (+)NCBIChiLan1.0ChiLan1.0
APH1A
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v2199,556,319 - 99,573,297 (+)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan1199,323,843 - 99,326,806 (+)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v01125,610,649 - 125,614,261 (-)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.11129,262,002 - 129,278,517 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl1129,262,002 - 129,265,810 (-)Ensemblpanpan1.1panPan2
APH1A
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.11759,510,805 - 59,514,431 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl1759,502,523 - 59,514,403 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha1758,957,162 - 58,960,794 (-)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.01760,526,236 - 60,529,875 (-)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl1760,526,235 - 60,529,849 (-)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.11759,356,688 - 59,360,320 (-)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.01759,440,418 - 59,444,051 (-)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.01760,168,413 - 60,172,045 (-)NCBIUU_Cfam_GSD_1.0
Aph1a
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440505821,521,985 - 21,525,502 (-)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_004936580552,362 - 556,027 (-)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_004936580552,362 - 556,027 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
APH1A
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl498,817,586 - 98,821,254 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1498,817,574 - 98,821,255 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
APH1A
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Vero_WHO_p1.0NW_02366603813,022,908 - 13,026,804 (+)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Aph1a
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_00462477218,018,896 - 18,022,508 (-)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_00462477218,018,852 - 18,022,431 (-)NCBIHetGla_female_1.0HetGla 1.0hetGla2

.

.
Variants in APH1A
13 total Variants

1 to 10 of 31 rows
Name
Type
Condition(s)
Position(s)
Clinical significance
GRCh38/hg38 1q21.2(chr1:150034379-150414215)x1 copy number loss See cases [RCV000051175] Chr1:150034379..150414215 [GRCh38]
Chr1:150006344..150311095 [GRCh37]
Chr1:148272968..148653315 [NCBI36]
Chr1:1q21.2
uncertain significance
GRCh38/hg38 1q21.2(chr1:150214843-150565007)x3 copy number gain See cases [RCV000138735] Chr1:150214843..150565007 [GRCh38]
Chr1:150187139..150537483 [GRCh37]
Chr1:148453763..148804107 [NCBI36]
Chr1:1q21.2
likely benign
GRCh38/hg38 1q21.2-25.2(chr1:149854269-180267197)x3 copy number gain See cases [RCV000143515] Chr1:149854269..180267197 [GRCh38]
Chr1:149825831..180236332 [GRCh37]
Chr1:148092455..178502955 [NCBI36]
Chr1:1q21.2-25.2
pathogenic
GRCh37/hg19 1q21.1-21.3(chr1:144927578-153223600)x3 copy number gain Chromosome 1q21.1 duplication syndrome [RCV000223957] Chr1:144927578..153223600 [GRCh37]
Chr1:1q21.1-21.3
pathogenic
GRCh37/hg19 1q21.1-21.3(chr1:143753740-151399970)x3 copy number gain See cases [RCV000447109] Chr1:143753740..151399970 [GRCh37]
Chr1:1q21.1-21.3
pathogenic
GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)x3 copy number gain See cases [RCV000510383] Chr1:849467..249224684 [GRCh37]
Chr1:1p36.33-q44
pathogenic
GRCh37/hg19 1p36.33-q44(chr1:849467-249224684) copy number gain See cases [RCV000510926] Chr1:849467..249224684 [GRCh37]
Chr1:1p36.33-q44
pathogenic
NM_001077628.3(APH1A):c.325A>G (p.Arg109Gly) single nucleotide variant not specified [RCV004326475] Chr1:150267749 [GRCh38]
Chr1:150240149 [GRCh37]
Chr1:1q21.2
uncertain significance
GRCh37/hg19 1p36.33-q44(chr1:47851-249228449)x3 copy number gain not provided [RCV000736295] Chr1:47851..249228449 [GRCh37]
Chr1:1p36.33-q44
pathogenic
GRCh37/hg19 1p36.33-q44(chr1:82154-249218992)x3 copy number gain not provided [RCV000736305] Chr1:82154..249218992 [GRCh37]
Chr1:1p36.33-q44
pathogenic
1 to 10 of 31 rows

Confirmed Target Of
miRNA GeneMature miRNAMethod NameResult TypeData TypeSupport TypePMID
MIR145hsa-miR-145-5pTarbaseexternal_infoMicroarrayPOSITIVE

Predicted Target Of
Summary Value
Count of predictions:2970
Count of miRNA genes:938
Interacting mature miRNAs:1110
Transcripts:ENST00000236017, ENST00000360244, ENST00000369109, ENST00000414276, ENST00000461320, ENST00000476538, ENST00000486308, ENST00000486720, ENST00000493092
Prediction methods:Microtar, Miranda, Rnahybrid
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.


The following QTLs overlap with this region.    Full Report CSV TAB Printer Gviewer
RGD ID
Symbol
Name
LOD
P Value
Trait
Sub Trait
Chr
Start
Stop
Species
1357381BW57_HBody weight QTL 57 (human)10.0001Body weightfat free mass after exercise training1140630236166630236Human

SGC31751  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371150,237,829 - 150,237,958UniSTSGRCh37
Build 361148,504,453 - 148,504,582RGDNCBI36
Celera1123,353,560 - 123,353,689RGD
Cytogenetic Map1q21UniSTS
Cytogenetic Map1p36.13-q31.3UniSTS
HuRef1121,616,496 - 121,616,625UniSTS
GeneMap99-GB4 RH Map1542.76UniSTS
GeneMap99-GB4 RH Map1540.36UniSTS
Whitehead-RH Map1634.9UniSTS
SHGC-32182  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371150,237,331 - 150,237,433UniSTSGRCh37
Build 361148,503,955 - 148,504,057RGDNCBI36
Celera1123,353,062 - 123,353,164RGD
Cytogenetic Map1q21UniSTS
Cytogenetic Map1p36.13-q31.3UniSTS
HuRef1121,615,998 - 121,616,100UniSTS
GeneMap99-GB4 RH Map1537.26UniSTS
GeneMap99-GB4 RH Map1553.37UniSTS
Whitehead-RH Map1627.7UniSTS
NCBI RH Map11003.6UniSTS
D13S1659  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371150,238,285 - 150,238,427UniSTSGRCh37
Build 361148,504,909 - 148,505,051RGDNCBI36
Celera1123,354,016 - 123,354,158RGD
Cytogenetic Map1p36.13-q31.3UniSTS
HuRef1121,616,952 - 121,617,094UniSTS
GeneMap99-G3 RH Map11761.0UniSTS
A004F41  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371150,237,873 - 150,238,086UniSTSGRCh37
Build 361148,504,497 - 148,504,710RGDNCBI36
Celera1123,353,604 - 123,353,817RGD
Cytogenetic Map1p36.13-q31.3UniSTS
HuRef1121,616,540 - 121,616,753UniSTS
GeneMap99-GB4 RH Map1536.8UniSTS
APH-1A__4340  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371150,237,641 - 150,238,436UniSTSGRCh37
Build 361148,504,265 - 148,505,060RGDNCBI36
Celera1123,353,372 - 123,354,167RGD
HuRef1121,616,308 - 121,617,103UniSTS
MARC_7139-7140:992008251:1  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371150,239,003 - 150,239,791UniSTSGRCh37
Celera1123,354,734 - 123,355,522UniSTS
HuRef1121,617,670 - 121,618,458UniSTS




adipose tissue
alimentary part of gastrointestinal system
appendage
circulatory system
ectoderm
endocrine system
endoderm
entire extraembryonic component
exocrine system
hemolymphoid system
hepatobiliary system
integumental system
mesenchyme
mesoderm
musculoskeletal system
nervous system
pharyngeal arch
renal system
reproductive system
respiratory system
sensory system
visual system
1204 2439 2788 2253 4974 1726 2351 6 624 1951 465 2270 7306 6472 53 3734 1 852 1744 1617 175 1


1 to 30 of 44 rows
RefSeq Transcripts NG_029952 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001077628 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001243771 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001243772 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_016022 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_045033 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_045034 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_045035 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017001417 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_024447455 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047422066 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054336892 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AC242988 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF151835 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF508787 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK027879 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK075295 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK075452 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK125685 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK297680 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK298832 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK298876 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK300640 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK307358 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK314490 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL138795 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AX775955 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AX775957 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY113698 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY113699 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
1 to 30 of 44 rows

Ensembl Acc Id: ENST00000236017   ⟹   ENSP00000236017
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1150,266,645 - 150,269,023 (-)Ensembl
Ensembl Acc Id: ENST00000360244   ⟹   ENSP00000353380
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1150,265,406 - 150,269,303 (-)Ensembl
Ensembl Acc Id: ENST00000369109   ⟹   ENSP00000358105
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1150,265,404 - 150,269,016 (-)Ensembl
Ensembl Acc Id: ENST00000414276   ⟹   ENSP00000397473
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1150,265,399 - 150,269,209 (-)Ensembl
Ensembl Acc Id: ENST00000461320
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1150,266,349 - 150,269,015 (-)Ensembl
Ensembl Acc Id: ENST00000476538
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1150,267,370 - 150,268,566 (-)Ensembl
Ensembl Acc Id: ENST00000486308
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1150,266,956 - 150,267,766 (-)Ensembl
Ensembl Acc Id: ENST00000486720
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1150,267,097 - 150,267,696 (-)Ensembl
Ensembl Acc Id: ENST00000493092
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1150,268,901 - 150,269,580 (-)Ensembl
RefSeq Acc Id: NM_001077628   ⟹   NP_001071096
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381150,265,404 - 150,269,016 (-)NCBI
GRCh371150,237,799 - 150,241,609 (-)NCBI
Build 361148,504,423 - 148,508,156 (-)NCBI Archive
HuRef1121,616,466 - 121,620,276 (-)NCBI
CHM1_11151,633,525 - 151,637,335 (-)NCBI
T2T-CHM13v2.01149,390,321 - 149,393,933 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001243771   ⟹   NP_001230700
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381150,265,404 - 150,269,016 (-)NCBI
GRCh371150,237,799 - 150,241,609 (-)NCBI
HuRef1121,616,466 - 121,620,276 (-)NCBI
CHM1_11151,633,525 - 151,637,335 (-)NCBI
T2T-CHM13v2.01149,390,321 - 149,393,933 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001243772   ⟹   NP_001230701
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381150,265,404 - 150,269,016 (-)NCBI
GRCh371150,237,799 - 150,241,609 (-)NCBI
HuRef1121,616,466 - 121,620,276 (-)NCBI
CHM1_11151,633,525 - 151,637,335 (-)NCBI
T2T-CHM13v2.01149,390,321 - 149,393,933 (-)NCBI
Sequence:
RefSeq Acc Id: NM_016022   ⟹   NP_057106
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381150,265,404 - 150,269,016 (-)NCBI
GRCh371150,237,799 - 150,241,609 (-)NCBI
Build 361148,504,423 - 148,508,156 (-)NCBI Archive
HuRef1121,616,466 - 121,620,276 (-)NCBI
CHM1_11151,633,525 - 151,637,335 (-)NCBI
T2T-CHM13v2.01149,390,321 - 149,393,933 (-)NCBI
Sequence:
RefSeq Acc Id: NR_045033
RefSeq Status: REVIEWED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381150,265,404 - 150,269,016 (-)NCBI
GRCh371150,237,799 - 150,241,609 (-)NCBI
HuRef1121,616,466 - 121,620,276 (-)NCBI
CHM1_11151,633,525 - 151,637,335 (-)NCBI
T2T-CHM13v2.01149,390,321 - 149,393,933 (-)NCBI
Sequence:
RefSeq Acc Id: NR_045034
RefSeq Status: REVIEWED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381150,265,404 - 150,269,016 (-)NCBI
GRCh371150,237,799 - 150,241,609 (-)NCBI
HuRef1121,616,466 - 121,620,276 (-)NCBI
CHM1_11151,633,525 - 151,637,335 (-)NCBI
T2T-CHM13v2.01149,390,321 - 149,393,933 (-)NCBI
Sequence:
RefSeq Acc Id: NR_045035
RefSeq Status: REVIEWED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381150,265,404 - 150,269,016 (-)NCBI
GRCh371150,237,799 - 150,241,609 (-)NCBI
HuRef1121,616,466 - 121,620,276 (-)NCBI
CHM1_11151,633,525 - 151,637,335 (-)NCBI
T2T-CHM13v2.01149,390,321 - 149,393,933 (-)NCBI
Sequence:
RefSeq Acc Id: XM_047422066   ⟹   XP_047278022
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381150,265,404 - 150,269,016 (-)NCBI
RefSeq Acc Id: XM_054336892   ⟹   XP_054192867
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01149,390,321 - 149,393,933 (-)NCBI
1 to 30 of 40 rows
Protein RefSeqs NP_001071096 (Get FASTA)   NCBI Sequence Viewer  
  NP_001230700 (Get FASTA)   NCBI Sequence Viewer  
  NP_001230701 (Get FASTA)   NCBI Sequence Viewer  
  NP_057106 (Get FASTA)   NCBI Sequence Viewer  
  XP_047278022 (Get FASTA)   NCBI Sequence Viewer  
  XP_054192867 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein AAD34072 (Get FASTA)   NCBI Sequence Viewer  
  AAH01230 (Get FASTA)   NCBI Sequence Viewer  
  AAH08732 (Get FASTA)   NCBI Sequence Viewer  
  AAH09501 (Get FASTA)   NCBI Sequence Viewer  
  AAH15568 (Get FASTA)   NCBI Sequence Viewer  
  AAH17699 (Get FASTA)   NCBI Sequence Viewer  
  AAH20590 (Get FASTA)   NCBI Sequence Viewer  
  AAM61955 (Get FASTA)   NCBI Sequence Viewer  
  AAM61956 (Get FASTA)   NCBI Sequence Viewer  
  AAN63816 (Get FASTA)   NCBI Sequence Viewer  
  AAQ89310 (Get FASTA)   NCBI Sequence Viewer  
  BAC11529 (Get FASTA)   NCBI Sequence Viewer  
  BAG51389 (Get FASTA)   NCBI Sequence Viewer  
  BAG52142 (Get FASTA)   NCBI Sequence Viewer  
  BAG60040 (Get FASTA)   NCBI Sequence Viewer  
  BAG60962 (Get FASTA)   NCBI Sequence Viewer  
  BAG60993 (Get FASTA)   NCBI Sequence Viewer  
  BAG62329 (Get FASTA)   NCBI Sequence Viewer  
  CAE11677 (Get FASTA)   NCBI Sequence Viewer  
  CAE11678 (Get FASTA)   NCBI Sequence Viewer  
  CAF86638 (Get FASTA)   NCBI Sequence Viewer  
  CAI22811 (Get FASTA)   NCBI Sequence Viewer  
  CAI22812 (Get FASTA)   NCBI Sequence Viewer  
  CAI22813 (Get FASTA)   NCBI Sequence Viewer  
1 to 30 of 40 rows
1 to 5 of 10 rows
1 to 5 of 10 rows
RefSeq Acc Id: NP_001071096   ⟸   NM_001077628
- Peptide Label: isoform 1
- UniProtKB: Q9BVG0 (UniProtKB/Swiss-Prot),   Q969R6 (UniProtKB/Swiss-Prot),   Q5TB23 (UniProtKB/Swiss-Prot),   Q5TB22 (UniProtKB/Swiss-Prot),   B4DQK0 (UniProtKB/Swiss-Prot),   Q9Y386 (UniProtKB/Swiss-Prot),   Q96BI3 (UniProtKB/Swiss-Prot),   B3KQT0 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_057106   ⟸   NM_016022
- Peptide Label: isoform 2
- UniProtKB: B3KQT0 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001230700   ⟸   NM_001243771
- Peptide Label: isoform 3
- UniProtKB: B4DUG7 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001230701   ⟸   NM_001243772
- Peptide Label: isoform 4
- UniProtKB: Q96BI3 (UniProtKB/Swiss-Prot)
- Sequence:
Ensembl Acc Id: ENSP00000353380   ⟸   ENST00000360244

Name Modeler Protein Id AA Range Protein Structure
AF-Q96BI3-F1-model_v2 AlphaFold Q96BI3 1-265 view protein structure

RGD ID:6786348
Promoter ID:HG_KWN:4912
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:K562
Transcripts:ENST00000236017,   NM_001077628,   OTTHUMT00000035047,   OTTHUMT00000035049,   OTTHUMT00000035050,   OTTHUMT00000035051,   OTTHUMT00000035052,   OTTHUMT00000095846,   OTTHUMT00000095847,   UC001EUA.1,   UC001EUB.1
Position:
Human AssemblyChrPosition (strand)Source
Build 361148,507,846 - 148,508,346 (-)MPROMDB
RGD ID:6856956
Promoter ID:EPDNEW_H1643
Type:initiation region
Name:APH1A_1
Description:aph-1 homolog A, gamma-secretase subunit
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H1644  EPDNEW_H1645  EPDNEW_H1647  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381150,269,014 - 150,269,074EPDNEW
RGD ID:6856958
Promoter ID:EPDNEW_H1644
Type:initiation region
Name:APH1A_3
Description:aph-1 homolog A, gamma-secretase subunit
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H1643  EPDNEW_H1645  EPDNEW_H1647  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381150,269,344 - 150,269,404EPDNEW
RGD ID:6856960
Promoter ID:EPDNEW_H1645
Type:multiple initiation site
Name:APH1A_4
Description:aph-1 homolog A, gamma-secretase subunit
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H1643  EPDNEW_H1644  EPDNEW_H1647  
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381150,272,370 - 150,272,430EPDNEW


1 to 35 of 35 rows
Database
Acc Id
Source(s)
COSMIC APH1A COSMIC
Ensembl Genes ENSG00000117362 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000360244 ENTREZGENE
  ENST00000360244.8 UniProtKB/Swiss-Prot
  ENST00000369109 ENTREZGENE
  ENST00000369109.8 UniProtKB/Swiss-Prot
  ENST00000414276 ENTREZGENE
  ENST00000414276.6 UniProtKB/Swiss-Prot
GTEx ENSG00000117362 GTEx
HGNC ID HGNC:29509 ENTREZGENE
Human Proteome Map APH1A Human Proteome Map
InterPro Aph-1 UniProtKB/Swiss-Prot
KEGG Report hsa:51107 UniProtKB/Swiss-Prot
NCBI Gene 51107 ENTREZGENE
OMIM 607629 OMIM
PANTHER PTHR12889 UniProtKB/Swiss-Prot
Pfam Aph-1 UniProtKB/Swiss-Prot
PharmGKB PA142672599 PharmGKB
UniProt APH1A_HUMAN UniProtKB/Swiss-Prot
  B3KQT0 ENTREZGENE, UniProtKB/TrEMBL
  B4DQK0 ENTREZGENE
  B4DUG7 ENTREZGENE, UniProtKB/TrEMBL
  Q5TB21_HUMAN UniProtKB/TrEMBL
  Q5TB22 ENTREZGENE
  Q5TB23 ENTREZGENE
  Q969R6 ENTREZGENE
  Q96BI3 ENTREZGENE
  Q9BVG0 ENTREZGENE
  Q9Y386 ENTREZGENE
UniProt Secondary B4DQK0 UniProtKB/Swiss-Prot
  Q5TB22 UniProtKB/Swiss-Prot
  Q5TB23 UniProtKB/Swiss-Prot
  Q969R6 UniProtKB/Swiss-Prot
  Q9BVG0 UniProtKB/Swiss-Prot
  Q9Y386 UniProtKB/Swiss-Prot
1 to 35 of 35 rows


Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2016-05-19 APH1A  aph-1 homolog A, gamma-secretase subunit    aph-1 homolog A, gamma secretase subunit  Symbol and/or name change 5135510 APPROVED
2015-12-01 APH1A  aph-1 homolog A, gamma secretase subunit    APH1A gamma secretase subunit  Symbol and/or name change 5135510 APPROVED
2013-07-09 APH1A  APH1A gamma secretase subunit    anterior pharynx defective 1 homolog A (C. elegans)  Symbol and/or name change 5135510 APPROVED