APH1B (aph-1 homolog B, gamma-secretase subunit) - Rat Genome Database

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Gene: APH1B (aph-1 homolog B, gamma-secretase subunit) Homo sapiens
Analyze
Symbol: APH1B
Name: aph-1 homolog B, gamma-secretase subunit
RGD ID: 1344589
HGNC Page HGNC:24080
Description: Enables endopeptidase activator activity and protein-macromolecule adaptor activity. Involved in Notch receptor processing; amyloid-beta formation; and positive regulation of endopeptidase activity. Acts upstream of or within protein processing. Located in membrane and transport vesicle. Part of gamma-secretase complex. Implicated in coronary artery disease.
Type: protein-coding
RefSeq Status: VALIDATED
Previously known as: anterior pharynx defective 1 homolog B; anterior pharynx defective 1B-like; aph-1 homolog B, gamma secretase subunit; APH-1B; aph-1beta; APH1B gamma secretase subunit; DKFZp564D0372; FLJ33115; gamma-secretase subunit APH-1B; presenilin stabilization factor-like; presenilin-stabilization factor-like; PRO1328; PSFL; TAAV688
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
GRCh381563,277,605 - 63,309,126 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1563,276,018 - 63,309,126 (+)EnsemblGRCh38hg38GRCh38
GRCh371563,569,804 - 63,601,325 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 361561,356,844 - 61,385,166 (+)NCBINCBI36Build 36hg18NCBI36
Build 341561,356,843 - 61,385,166NCBI
Celera1540,448,497 - 40,480,071 (+)NCBICelera
Cytogenetic Map15q22.2NCBI
HuRef1540,392,589 - 40,424,164 (+)NCBIHuRef
CHM1_11563,688,803 - 63,720,382 (+)NCBICHM1_1
T2T-CHM13v2.01561,082,385 - 61,113,909 (+)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
(-)-epigallocatechin 3-gallate  (EXP)
1,2-dimethylhydrazine  (ISO)
2,3,7,8-tetrachlorodibenzodioxine  (EXP,ISO)
2,6-dinitrotoluene  (ISO)
2-palmitoylglycerol  (EXP)
4-(N-nitrosomethylamino)-1-(3-pyridyl)butan-1-one  (ISO)
4-hydroxyphenyl retinamide  (ISO)
5-aza-2'-deoxycytidine  (EXP)
acrylamide  (ISO)
all-trans-retinoic acid  (EXP)
alpha-Zearalanol  (ISO)
amphetamine  (ISO)
antirheumatic drug  (EXP)
aristolochic acid A  (EXP)
benzo[a]pyrene  (EXP,ISO)
bis(2-chloroethyl) sulfide  (EXP)
bisphenol A  (EXP,ISO)
bisphenol F  (ISO)
cadmium dichloride  (EXP)
calcitriol  (EXP)
carbon nanotube  (ISO)
CGP 52608  (EXP)
choline  (ISO)
chromium(6+)  (EXP)
cisplatin  (EXP)
clofibrate  (ISO)
clofibric acid  (ISO)
diallyl trisulfide  (EXP)
dicrotophos  (EXP)
dorsomorphin  (EXP)
entinostat  (EXP)
enzalutamide  (EXP)
folic acid  (ISO)
furan  (ISO)
hydrogen peroxide  (EXP)
indole-3-methanol  (ISO)
L-methionine  (ISO)
lead diacetate  (ISO)
leflunomide  (EXP)
linalool  (ISO)
methylparaben  (EXP)
N-acetyl-L-cysteine  (ISO)
N-nitrosodiethylamine  (ISO)
perfluorooctanoic acid  (ISO)
phenformin  (ISO)
phenobarbital  (ISO)
phlorizin  (ISO)
pirinixic acid  (ISO)
potassium chromate  (EXP)
SB 431542  (EXP)
silicon dioxide  (EXP)
silver atom  (ISO)
silver(0)  (ISO)
sodium arsenite  (EXP)
sunitinib  (EXP)
temozolomide  (EXP)
testosterone  (EXP)
thioacetamide  (ISO)
titanium dioxide  (ISO)
toluene  (ISO)
trichloroethene  (ISO)
triphenyl phosphate  (EXP)
urethane  (EXP)
valproic acid  (EXP,ISO)
vinclozolin  (ISO)

Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component

Molecular Function

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

Human Phenotype
References

References - curated
# 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. [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.
3. PID Annotation Import Pipeline Pipeline to import Pathway Interaction Database annotations from NCI into RGD
4. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
5. Correlation between HIV-1 seropositivity and prevalence of a gamma-secretase polymorphism in two distinct ethnic populations. van Loo KM, etal., J Med Virol. 2009 Nov;81(11):1847-51. doi: 10.1002/jmv.21601.
6. Male-specific association between a gamma-secretase polymorphism and premature coronary atherosclerosis. van Loo KM, etal., PLoS One. 2008;3(11):e3662. doi: 10.1371/journal.pone.0003662. Epub 2008 Nov 6.
Additional References at PubMed
PMID:10206645   PMID:11076863   PMID:11230166   PMID:11256614   PMID:12110170   PMID:12297508   PMID:12471034   PMID:12477932   PMID:12740439   PMID:12763021   PMID:12787561   PMID:12843241  
PMID:12857757   PMID:12975309   PMID:14702039   PMID:15274632   PMID:15286082   PMID:15474363   PMID:15489334   PMID:15489336   PMID:15591316   PMID:15629423   PMID:15721744   PMID:15823552  
PMID:16344560   PMID:16381901   PMID:16630834   PMID:16757808   PMID:17466415   PMID:17986144   PMID:21873635   PMID:23665252   PMID:27608597   PMID:28611215   PMID:31995180   PMID:32296183  
PMID:32814053   PMID:34732252  


Genomics

Comparative Map Data
APH1B
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381563,277,605 - 63,309,126 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1563,276,018 - 63,309,126 (+)EnsemblGRCh38hg38GRCh38
GRCh371563,569,804 - 63,601,325 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 361561,356,844 - 61,385,166 (+)NCBINCBI36Build 36hg18NCBI36
Build 341561,356,843 - 61,385,166NCBI
Celera1540,448,497 - 40,480,071 (+)NCBICelera
Cytogenetic Map15q22.2NCBI
HuRef1540,392,589 - 40,424,164 (+)NCBIHuRef
CHM1_11563,688,803 - 63,720,382 (+)NCBICHM1_1
T2T-CHM13v2.01561,082,385 - 61,113,909 (+)NCBIT2T-CHM13v2.0
Aph1b
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39966,682,484 - 66,704,671 (-)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl966,682,484 - 66,702,772 (-)EnsemblGRCm39 Ensembl
GRCm38966,775,202 - 66,797,345 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl966,775,202 - 66,795,490 (-)EnsemblGRCm38mm10GRCm38
MGSCv37966,623,294 - 66,643,230 (-)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv36966,574,631 - 66,594,567 (-)NCBIMGSCv36mm8
Celera964,009,856 - 64,029,635 (-)NCBICelera
Cytogenetic Map9CNCBI
cM Map936.12NCBI
Aph1b
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr8876,310,380 - 76,334,146 (-)NCBIGRCr8
mRatBN7.2867,429,198 - 67,454,735 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl867,429,198 - 67,450,243 (-)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx872,962,644 - 72,984,343 (-)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.0871,235,477 - 71,257,176 (-)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.0869,070,986 - 69,092,038 (-)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.0872,508,008 - 72,598,921 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl872,476,425 - 72,629,265 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.0876,942,439 - 76,963,484 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4871,122,681 - 71,143,726 (-)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
Celera874,251,130 - 74,264,693 (+)NCBICelera
Cytogenetic Map8q24NCBI
Aph1b
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495545012,000,424 - 12,022,071 (-)EnsemblChiLan1.0
ChiLan1.0NW_00495545012,000,682 - 12,022,183 (-)NCBIChiLan1.0ChiLan1.0
APH1B
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v21652,526,034 - 52,554,488 (+)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan11556,702,155 - 56,733,766 (+)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v01542,224,593 - 42,256,202 (+)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.11560,520,031 - 60,551,599 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl1560,520,031 - 60,551,599 (+)Ensemblpanpan1.1panPan2
APH1B
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.13027,852,784 - 27,887,618 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl3027,855,249 - 27,887,601 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha3027,772,768 - 27,806,586 (+)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.03028,025,424 - 28,059,260 (+)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl3028,025,285 - 28,058,138 (+)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.13027,962,895 - 27,996,685 (+)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.03028,024,979 - 28,058,785 (+)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.03028,268,502 - 28,298,404 (+)NCBIUU_Cfam_GSD_1.0
Aph1b
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_024408640105,991,875 - 106,021,729 (+)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_00493647123,839,907 - 23,869,935 (+)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_00493647123,839,962 - 23,869,788 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
APH1B
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl1108,730,298 - 108,763,401 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.11108,549,297 - 108,763,279 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.21119,981,006 - 119,988,547 (-)NCBISscrofa10.2Sscrofa10.2susScr3
APH1B
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.12620,236,666 - 20,265,167 (-)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl2620,240,015 - 20,265,151 (-)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_023666048121,135,804 - 121,164,327 (+)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Aph1b
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_0046247819,217,741 - 9,249,477 (-)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_0046247819,152,359 - 9,249,467 (-)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in APH1B
14 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 15q22.2-26.3(chr15:59828460-101920998)x3 copy number gain See cases [RCV000142915] Chr15:59828460..101920998 [GRCh38]
Chr15:60120659..102461201 [GRCh37]
Chr15:57907951..100278724 [NCBI36]
Chr15:15q22.2-26.3		 pathogenic
Single allele deletion Nemaline myopathy 6 [RCV000677940] Chr15:63414894..66439797 [GRCh37]
Chr15:15q22.2-22.31		 likely pathogenic
GRCh37/hg19 15q22.1-26.3(chr15:59297293-102480888)x3 copy number gain not provided [RCV000415836] Chr15:59297293..102480888 [GRCh37]
Chr15:15q22.1-26.3		 likely pathogenic
GRCh37/hg19 15q15.1-26.3(chr15:41745084-102354798)x4 copy number gain See cases [RCV000447123] Chr15:41745084..102354798 [GRCh37]
Chr15:15q15.1-26.3		 pathogenic
GRCh37/hg19 15q11.2-26.3(chr15:20733395-102511616)x4 copy number gain See cases [RCV000447765] Chr15:20733395..102511616 [GRCh37]
Chr15:15q11.2-26.3		 pathogenic
GRCh37/hg19 15q11.2-26.3(chr15:22770422-102429112)x3 copy number gain See cases [RCV000510717] Chr15:22770422..102429112 [GRCh37]
Chr15:15q11.2-26.3		 pathogenic
GRCh37/hg19 15q11.2-26.3(chr15:22770422-102429112) copy number gain See cases [RCV000512019] Chr15:22770422..102429112 [GRCh37]
Chr15:15q11.2-26.3		 pathogenic
Single allele duplication not provided [RCV000677926] Chr15:31115047..102354857 [GRCh37]
Chr15:15q13.2-26.3		 pathogenic
GRCh37/hg19 15q11.1-26.3(chr15:20016811-102493540)x3 copy number gain not provided [RCV000751155] Chr15:20016811..102493540 [GRCh37]
Chr15:15q11.1-26.3		 pathogenic
GRCh37/hg19 15q11.1-26.3(chr15:20071673-102461162)x3 copy number gain not provided [RCV000751156] Chr15:20071673..102461162 [GRCh37]
Chr15:15q11.1-26.3		 pathogenic
NC_000015.9:g.(?_62146656)_(64747263_?)del deletion not provided [RCV003107781] Chr15:62146656..64747263 [GRCh37]
Chr15:15q22.2-22.31		 pathogenic
NC_000015.10:g.(?_63042820)_(63869153_?)dup duplication Hypertrophic cardiomyopathy [RCV001033641] Chr15:63335019..64161352 [GRCh37]
Chr15:15q22.2-22.31		 uncertain significance
GRCh37/hg19 15q22.2-22.31(chr15:63555363-63800908)x3 copy number gain not provided [RCV001006703] Chr15:63555363..63800908 [GRCh37]
Chr15:15q22.2-22.31		 uncertain significance
NC_000015.9:g.(?_32964879)_(91358519_?)dup duplication Bloom syndrome [RCV001343104]|Familial colorectal cancer [RCV001325176] Chr15:32964879..91358519 [GRCh37]
Chr15:15q13.3-26.1		 uncertain significance
NC_000015.9:g.(?_63335019)_(64161352_?)dup duplication Hypertrophic cardiomyopathy [RCV001304134] Chr15:63335019..64161352 [GRCh37]
Chr15:15q22.2-22.31		 uncertain significance
NM_031301.4(APH1B):c.139C>G (p.Leu47Val) single nucleotide variant not specified [RCV004182591] Chr15:63279186 [GRCh38]
Chr15:63571385 [GRCh37]
Chr15:15q22.2		 uncertain significance
GRCh37/hg19 15q22.2(chr15:63560124-63637751)x1 copy number loss not provided [RCV002475625] Chr15:63560124..63637751 [GRCh37]
Chr15:15q22.2		 uncertain significance
NM_031301.4(APH1B):c.728T>C (p.Leu243Pro) single nucleotide variant not specified [RCV004190722] Chr15:63305735 [GRCh38]
Chr15:63597934 [GRCh37]
Chr15:15q22.2		 uncertain significance
NM_031301.4(APH1B):c.383G>A (p.Ser128Asn) single nucleotide variant not specified [RCV004127328] Chr15:63287451 [GRCh38]
Chr15:63579650 [GRCh37]
Chr15:15q22.2		 uncertain significance
NM_031301.4(APH1B):c.520G>A (p.Gly174Ser) single nucleotide variant not specified [RCV004157464] Chr15:63302386 [GRCh38]
Chr15:63594585 [GRCh37]
Chr15:15q22.2		 uncertain significance
NM_031301.4(APH1B):c.43G>C (p.Gly15Arg) single nucleotide variant not specified [RCV004283315] Chr15:63277666 [GRCh38]
Chr15:63569865 [GRCh37]
Chr15:15q22.2		 uncertain significance
NM_031301.4(APH1B):c.268T>C (p.Tyr90His) single nucleotide variant not specified [RCV004417647] Chr15:63279315 [GRCh38]
Chr15:63571514 [GRCh37]
Chr15:15q22.2		 uncertain significance
NM_031301.4(APH1B):c.407C>T (p.Thr136Ile) single nucleotide variant not specified [RCV004417648] Chr15:63287475 [GRCh38]
Chr15:63579674 [GRCh37]
Chr15:15q22.2		 uncertain significance
NM_031301.4(APH1B):c.68T>G (p.Phe23Cys) single nucleotide variant not specified [RCV004417650] Chr15:63277691 [GRCh38]
Chr15:63569890 [GRCh37]
Chr15:15q22.2		 uncertain significance
NM_031301.4(APH1B):c.10G>A (p.Ala4Thr) single nucleotide variant not specified [RCV004648211] Chr15:63277633 [GRCh38]
Chr15:63569832 [GRCh37]
Chr15:15q22.2		 uncertain significance
NM_031301.4(APH1B):c.119T>C (p.Phe40Ser) single nucleotide variant not specified [RCV004648214] Chr15:63279166 [GRCh38]
Chr15:63571365 [GRCh37]
Chr15:15q22.2		 uncertain significance
NM_031301.4(APH1B):c.493G>C (p.Val165Leu) single nucleotide variant not specified [RCV004657181] Chr15:63302359 [GRCh38]
Chr15:63594558 [GRCh37]
Chr15:15q22.2		 uncertain significance
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:3003
Count of miRNA genes:1119
Interacting mature miRNAs:1375
Transcripts:ENST00000261879, ENST00000380340, ENST00000380343, ENST00000558631, ENST00000559744, ENST00000559823, ENST00000559971, ENST00000560353, ENST00000560716, ENST00000560890
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.


QTLs in Region (GRCh38)
The following QTLs overlap with this region.    Full Report CSV TAB Printer Gviewer
RGD IDSymbolNameLODP ValueTraitSub TraitChrStartStopSpecies
407183136GWAS832112_HAlzheimer disease QTL GWAS832112 (human)2e-25Alzheimer disease156327770363277704Human
406960623GWAS609599_HMyopia QTL GWAS609599 (human)2e-11Myopia156327903563279036Human
407284009GWAS932985_Hglomerular filtration rate QTL GWAS932985 (human)3e-25glomerular filtration rateglomerular filtration rate (CMO:0000490)156328795663287957Human
407202325GWAS851301_HAlzheimer disease QTL GWAS851301 (human)3e-21Alzheimer disease156327770363277704Human
407008978GWAS657954_HAbnormality of refraction QTL GWAS657954 (human)6e-36Abnormality of refraction156327903563279036Human
407149492GWAS798468_Hrefractive error, age at onset, Myopia QTL GWAS798468 (human)5e-14refractive error, age at onset, Myopia156328244263282443Human
407290614GWAS939590_Hglomerular filtration rate QTL GWAS939590 (human)8e-10glomerular filtration rateglomerular filtration rate (CMO:0000490)156328795663287957Human
407297172GWAS946148_Hblood urea nitrogen measurement QTL GWAS946148 (human)0.000005blood urea nitrogen measurementblood urea nitrogen level (CMO:0000049)156328795663287957Human
407011639GWAS660615_Hrefractive error QTL GWAS660615 (human)1e-15refractive error156327903563279036Human
407077462GWAS726438_Hglomerular filtration rate QTL GWAS726438 (human)7e-18glomerular filtration rateglomerular filtration rate (CMO:0000490)156328795663287957Human
407142301GWAS791277_HAlzheimer disease, family history of Alzheimer’s disease QTL GWAS791277 (human)3e-08Alzheimer disease, family history of Alzheimer’s disease156327770363277704Human
407293565GWAS942541_Hglomerular filtration rate QTL GWAS942541 (human)3e-16glomerular filtration rateglomerular filtration rate (CMO:0000490)156328795663287957Human
407337211GWAS986187_Hserum urea measurement QTL GWAS986187 (human)1e-09serum urea measurementserum urea level (CMO:0003877)156330623163306232Human
407076798GWAS725774_Hfamily history of Alzheimer’s disease QTL GWAS725774 (human)0.0000003family history of Alzheimer’s disease156327770363277704Human
407075806GWAS724782_Hglomerular filtration rate QTL GWAS724782 (human)8e-21glomerular filtration rateglomerular filtration rate (CMO:0000490)156328795663287957Human
407287547GWAS936523_Hglomerular filtration rate QTL GWAS936523 (human)1e-24glomerular filtration rateglomerular filtration rate (CMO:0000490)156328795663287957Human
406980636GWAS629612_Hlate-onset Alzheimers disease QTL GWAS629612 (human)7e-12late-onset Alzheimers disease156327770363277704Human
406937022GWAS585998_Hage at onset, Myopia QTL GWAS585998 (human)6e-10age at onset, Myopia156328244263282443Human

Markers in Region
WI-10749  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371563,587,031 - 63,587,283UniSTSGRCh37
Build 361561,374,084 - 61,374,336RGDNCBI36
Celera1540,465,778 - 40,466,030RGD
Cytogenetic Map15q22.2UniSTS
HuRef1540,409,869 - 40,410,121UniSTS
Whitehead-RH Map15222.7UniSTS
RH119833  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371563,588,481 - 63,588,815UniSTSGRCh37
Build 361561,375,534 - 61,375,868RGDNCBI36
Celera1540,467,228 - 40,467,562RGD
Cytogenetic Map15q22.2UniSTS
HuRef1540,411,319 - 40,411,653UniSTS
TNG Radiation Hybrid Map1523392.0UniSTS
D15S734E  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371563,599,975 - 63,600,096UniSTSGRCh37
Build 361561,387,028 - 61,387,149RGDNCBI36
Celera1540,478,721 - 40,478,842RGD
Cytogenetic Map15q22.2UniSTS
HuRef1540,422,814 - 40,422,935UniSTS
A007E02  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371563,601,034 - 63,601,243UniSTSGRCh37
Build 361561,388,087 - 61,388,296RGDNCBI36
Celera1540,479,780 - 40,479,989RGD
Cytogenetic Map15q22.2UniSTS
HuRef1540,423,873 - 40,424,082UniSTS
GeneMap99-GB4 RH Map15227.1UniSTS
STS-N31710  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371563,597,835 - 63,598,028UniSTSGRCh37
Build 361561,384,888 - 61,385,081RGDNCBI36
Celera1540,476,581 - 40,476,774RGD
Cytogenetic Map15q22.2UniSTS
HuRef1540,420,674 - 40,420,867UniSTS
GeneMap99-GB4 RH Map15224.23UniSTS
NCBI RH Map15360.5UniSTS


Expression

RNA-SEQ Expression

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 2437 2788 2252 4973 1726 2350 6 624 1946 465 2270 7300 6466 53 3734 1 852 1743 1616 174 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NM_001145646 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_031301 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011522105 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_024450085 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_024450086 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054378982 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054378983 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_007064490 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_008489018 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AA808355 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB189172 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB197122 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC016207 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF508794 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AI693802 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK057677 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK291204 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK307456 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK307725 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK310843 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL136671 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY358698 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC020905 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BI825203 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471082 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068263 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA397427 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Ensembl Acc Id: ENST00000261879   ⟹   ENSP00000261879
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1563,277,605 - 63,309,126 (+)Ensembl
Ensembl Acc Id: ENST00000380340   ⟹   ENSP00000369697
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1563,277,610 - 63,305,801 (+)Ensembl
Ensembl Acc Id: ENST00000380343   ⟹   ENSP00000369700
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1563,277,610 - 63,305,801 (+)Ensembl
Ensembl Acc Id: ENST00000558631
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1563,287,181 - 63,302,493 (+)Ensembl
Ensembl Acc Id: ENST00000559744
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1563,276,034 - 63,276,852 (+)Ensembl
Ensembl Acc Id: ENST00000559823
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1563,287,216 - 63,305,910 (+)Ensembl
Ensembl Acc Id: ENST00000559971   ⟹   ENSP00000453516
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1563,277,681 - 63,306,326 (+)Ensembl
Ensembl Acc Id: ENST00000560353   ⟹   ENSP00000453327
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1563,277,618 - 63,305,801 (+)Ensembl
Ensembl Acc Id: ENST00000560716
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1563,291,686 - 63,305,904 (+)Ensembl
Ensembl Acc Id: ENST00000560890   ⟹   ENSP00000453002
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1563,276,018 - 63,305,735 (+)Ensembl
RefSeq Acc Id: NM_001145646   ⟹   NP_001139118
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381563,277,605 - 63,309,126 (+)NCBI
GRCh371563,569,749 - 63,601,325 (+)ENTREZGENE
HuRef1540,392,589 - 40,424,164 (+)ENTREZGENE
CHM1_11563,688,803 - 63,720,382 (+)NCBI
T2T-CHM13v2.01561,082,385 - 61,113,909 (+)NCBI
Sequence:
RefSeq Acc Id: NM_031301   ⟹   NP_112591
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381563,277,605 - 63,309,126 (+)NCBI
GRCh371563,569,749 - 63,601,325 (+)ENTREZGENE
Build 361561,356,844 - 61,385,166 (+)NCBI Archive
HuRef1540,392,589 - 40,424,164 (+)ENTREZGENE
CHM1_11563,688,803 - 63,720,382 (+)NCBI
T2T-CHM13v2.01561,082,385 - 61,113,909 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011522105   ⟹   XP_011520407
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381563,277,605 - 63,303,185 (+)NCBI
Sequence:
RefSeq Acc Id: XM_024450085   ⟹   XP_024305853
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381563,278,331 - 63,309,126 (+)NCBI
Sequence:
RefSeq Acc Id: XM_054378982   ⟹   XP_054234957
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01561,082,385 - 61,107,966 (+)NCBI
RefSeq Acc Id: XM_054378983   ⟹   XP_054234958
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01561,083,111 - 61,113,909 (+)NCBI
RefSeq Acc Id: XR_007064490
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381563,277,605 - 63,304,669 (+)NCBI
RefSeq Acc Id: XR_008489018
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01561,082,385 - 61,110,390 (+)NCBI
RefSeq Acc Id: NP_112591   ⟸   NM_031301
- Peptide Label: isoform 1
- UniProtKB: Q6UWQ1 (UniProtKB/Swiss-Prot),   Q564N3 (UniProtKB/Swiss-Prot),   A8K589 (UniProtKB/Swiss-Prot),   Q9H0S0 (UniProtKB/Swiss-Prot),   Q8WW43 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001139118   ⟸   NM_001145646
- Peptide Label: isoform 2
- UniProtKB: Q8WW43 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_011520407   ⟸   XM_011522105
- Peptide Label: isoform X1
- Sequence:
RefSeq Acc Id: XP_024305853   ⟸   XM_024450085
- Peptide Label: isoform X2
- UniProtKB: H0YKZ9 (UniProtKB/TrEMBL)
- Sequence:
Ensembl Acc Id: ENSP00000453516   ⟸   ENST00000559971
Ensembl Acc Id: ENSP00000453327   ⟸   ENST00000560353
Ensembl Acc Id: ENSP00000453002   ⟸   ENST00000560890
Ensembl Acc Id: ENSP00000261879   ⟸   ENST00000261879
Ensembl Acc Id: ENSP00000369700   ⟸   ENST00000380343
Ensembl Acc Id: ENSP00000369697   ⟸   ENST00000380340
RefSeq Acc Id: XP_054234957   ⟸   XM_054378982
- Peptide Label: isoform X1
RefSeq Acc Id: XP_054234958   ⟸   XM_054378983
- Peptide Label: isoform X2

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q8WW43-F1-model_v2 AlphaFold Q8WW43 1-257 view protein structure

Promoters
RGD ID:6792123
Promoter ID:HG_KWN:21624
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   HeLa_S3,   K562,   Lymphoblastoid,   NB4
Transcripts:NM_001145646,   OTTHUMT00000256337,   UC010BGQ.1,   UC010BGR.1
Position:
Human AssemblyChrPosition (strand)Source
Build 361561,356,446 - 61,356,987 (+)MPROMDB
RGD ID:7229733
Promoter ID:EPDNEW_H20612
Type:initiation region
Name:APH1B_1
Description:aph-1 homolog B, gamma-secretase subunit
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H20613  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381563,277,605 - 63,277,665EPDNEW
RGD ID:7229735
Promoter ID:EPDNEW_H20613
Type:initiation region
Name:APH1B_2
Description:aph-1 homolog B, gamma-secretase subunit
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H20612  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381563,277,740 - 63,277,800EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:24080 AgrOrtholog
COSMIC APH1B COSMIC
Ensembl Genes ENSG00000138613 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000261879 ENTREZGENE
  ENST00000261879.10 UniProtKB/Swiss-Prot
  ENST00000380340.8 UniProtKB/TrEMBL
  ENST00000380343 ENTREZGENE
  ENST00000380343.8 UniProtKB/Swiss-Prot
  ENST00000559971.5 UniProtKB/TrEMBL
  ENST00000560353.1 UniProtKB/TrEMBL
  ENST00000560890 ENTREZGENE
  ENST00000560890.5 UniProtKB/TrEMBL
GTEx ENSG00000138613 GTEx
HGNC ID HGNC:24080 ENTREZGENE
Human Proteome Map APH1B Human Proteome Map
InterPro Aph-1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:83464 UniProtKB/Swiss-Prot
NCBI Gene 83464 ENTREZGENE
OMIM 607630 OMIM
PANTHER GAMMA-SECRETASE SUBUNIT APH-1B UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PTHR12889 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam Aph-1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA142672600 PharmGKB
UniProt A8K589 ENTREZGENE
  APH1B_HUMAN UniProtKB/Swiss-Prot
  H0YKZ9 ENTREZGENE, UniProtKB/TrEMBL
  H0YLT0_HUMAN UniProtKB/TrEMBL
  H0YM95_HUMAN UniProtKB/TrEMBL
  Q4R1J8_HUMAN UniProtKB/TrEMBL
  Q564N3 ENTREZGENE
  Q6UWQ1 ENTREZGENE
  Q8WW43 ENTREZGENE
  Q9H0S0 ENTREZGENE
UniProt Secondary A8K589 UniProtKB/Swiss-Prot
  Q564N3 UniProtKB/Swiss-Prot
  Q6UWQ1 UniProtKB/Swiss-Prot
  Q9H0S0 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2016-05-19 APH1B  aph-1 homolog B, gamma-secretase subunit    aph-1 homolog B, gamma secretase subunit  Symbol and/or name change 5135510 APPROVED
2015-12-01 APH1B  aph-1 homolog B, gamma secretase subunit    APH1B gamma secretase subunit  Symbol and/or name change 5135510 APPROVED
2013-08-20 APH1B  APH1B gamma secretase subunit    anterior pharynx defective 1 homolog B (C. elegans)  Symbol and/or name change 5135510 APPROVED