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

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Gene: APH1B (aph-1 homolog B, gamma-secretase subunit) Canis lupus familiaris
Analyze
Symbol: APH1B
Name: aph-1 homolog B, gamma-secretase subunit
RGD ID: 12081682
Description: ENCODES a protein that exhibits endopeptidase activator activity (inferred); protein-macromolecule adaptor activity (inferred); INVOLVED IN amyloid-beta formation (ortholog); locomotory behavior (ortholog); membrane protein ectodomain proteolysis (ortholog); PARTICIPATES IN Notch signaling pathway; syndecan signaling pathway; ASSOCIATED WITH Alzheimer's disease (ortholog); Bloom syndrome (ortholog); colorectal cancer (ortholog); FOUND IN endoplasmic reticulum (inferred); gamma-secretase complex (inferred); membrane (inferred)
Type: protein-coding
RefSeq Status: MODEL
Previously known as: anterior pharynx defective 1 homolog B; gamma-secretase subunit APH-1B
RGD Orthologs
Human
Mouse
Rat
Chinchilla
Bonobo
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Genes
More Info more info ...
Latest Assembly: CanFam3.1 - Dog CanFam3.1 Assembly
Position:
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
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View

Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component

Molecular Function

Molecular Pathway Annotations     Click to see Annotation Detail View
References
Additional References at PubMed
PMID:22301074   PMID:30032202  


Genomics

Comparative Map Data
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
(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
(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
416 total Variants

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 reproductive system respiratory system adipose tissue
High
Medium 2 16 3 2 12 8 10 5
Low 3 5 6 6 3 6 4 6 1
Below cutoff

Sequence


Reference Sequences
RefSeq Acc Id: ENSCAFT00000047454   ⟹   ENSCAFP00000037055
Type: CODING
Position:
Dog AssemblyChrPosition (strand)Source
CanFam3.1 Ensembl3027,855,249 - 27,887,601 (+)Ensembl
RefSeq Acc Id: ENSCAFT00845036419   ⟹   ENSCAFP00845028505
Type: CODING
Position:
Dog AssemblyChrPosition (strand)Source
ROS_Cfam_1.0 Ensembl3028,025,285 - 28,058,138 (+)Ensembl
RefSeq Acc Id: ENSCAFT00845036471   ⟹   ENSCAFP00845028544
Type: CODING
Position:
Dog AssemblyChrPosition (strand)Source
ROS_Cfam_1.0 Ensembl3028,025,285 - 28,058,138 (+)Ensembl
RefSeq Acc Id: XM_038442558   ⟹   XP_038298486
Type: CODING
Position:
Dog AssemblyChrPosition (strand)Source
ROS_Cfam_1.03028,025,424 - 28,059,260 (+)NCBI
RefSeq Acc Id: XM_038461149   ⟹   XP_038317077
Type: CODING
Position:
Dog AssemblyChrPosition (strand)Source
Dog10K_Boxer_Tasha3027,772,768 - 27,806,586 (+)NCBI
RefSeq Acc Id: XM_038517010   ⟹   XP_038372938
Type: CODING
Position:
Dog AssemblyChrPosition (strand)Source
UMICH_Zoey_3.13027,962,895 - 27,996,685 (+)NCBI
RefSeq Acc Id: XM_038580632   ⟹   XP_038436560
Type: CODING
Position:
Dog AssemblyChrPosition (strand)Source
UU_Cfam_GSD_1.03028,268,502 - 28,298,404 (+)NCBI
RefSeq Acc Id: XM_038644942   ⟹   XP_038500870
Type: CODING
Position:
Dog AssemblyChrPosition (strand)Source
UNSW_CanFamBas_1.03028,024,979 - 28,058,785 (+)NCBI
Reference Protein Sequences
RefSeq Acc Id: ENSCAFP00000037055   ⟸   ENSCAFT00000047454
RefSeq Acc Id: XP_038372938   ⟸   XM_038517010
RefSeq Acc Id: XP_038500870   ⟸   XM_038644942
RefSeq Acc Id: XP_038298486   ⟸   XM_038442558
- UniProtKB: A0A8C0K6B9 (UniProtKB/TrEMBL),   A0A8C0PAY1 (UniProtKB/TrEMBL),   A0A8I3P5D1 (UniProtKB/TrEMBL),   A0A8C0P6Y9 (UniProtKB/TrEMBL),   A0A8I3PKP8 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_038317077   ⟸   XM_038461149
- UniProtKB: A0A8C0K6B9 (UniProtKB/TrEMBL),   A0A8C0PAY1 (UniProtKB/TrEMBL),   A0A8I3P5D1 (UniProtKB/TrEMBL),   A0A8C0P6Y9 (UniProtKB/TrEMBL),   A0A8I3PKP8 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_038436560   ⟸   XM_038580632
- UniProtKB: A0A8C0K6B9 (UniProtKB/TrEMBL),   A0A8C0P6Y9 (UniProtKB/TrEMBL),   A0A8C0PAY1 (UniProtKB/TrEMBL),   A0A8I3P5D1 (UniProtKB/TrEMBL),   A0A8I3PKP8 (UniProtKB/TrEMBL)
RefSeq Acc Id: ENSCAFP00845028544   ⟸   ENSCAFT00845036471
RefSeq Acc Id: ENSCAFP00845028505   ⟸   ENSCAFT00845036419

Promoters
RGD ID:13688546
Promoter ID:EPDNEW_C6614
Type:single initiation site
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/)
Experiment Methods:Single-end sequencing.
Position:
Dog AssemblyChrPosition (strand)Source
CanFam3.13027,854,673 - 27,854,733EPDNEW

Additional Information

Database Acc Id Source(s)
Ensembl Genes ENSCAFG00000031124 Ensembl
  ENSCAFG00000054200 UniProtKB/TrEMBL
  ENSCAFG00030021212 UniProtKB/TrEMBL
  ENSCAFG00040022960 UniProtKB/TrEMBL
  ENSCAFG00845020653 Ensembl, ENTREZGENE, UniProtKB/TrEMBL
Ensembl Transcript ENSCAFT00000104340.1 UniProtKB/TrEMBL
  ENSCAFT00000104372.1 UniProtKB/TrEMBL
  ENSCAFT00030039047.1 UniProtKB/TrEMBL
  ENSCAFT00030039075.1 UniProtKB/TrEMBL
  ENSCAFT00040042713.1 UniProtKB/TrEMBL
  ENSCAFT00845036419 ENTREZGENE
  ENSCAFT00845036419.1 UniProtKB/TrEMBL
  ENSCAFT00845036471.1 UniProtKB/TrEMBL
InterPro Aph-1 UniProtKB/TrEMBL
NCBI Gene APH1B ENTREZGENE
PANTHER GAMMA-SECRETASE SUBUNIT APH-1B UniProtKB/TrEMBL
  PTHR12889 UniProtKB/TrEMBL
Pfam Aph-1 UniProtKB/TrEMBL
UniProt A0A8C0K6B9 ENTREZGENE
  A0A8C0P6Y9 ENTREZGENE, UniProtKB/TrEMBL
  A0A8C0PAY1 ENTREZGENE, UniProtKB/TrEMBL
  A0A8I3P5D1 ENTREZGENE, UniProtKB/TrEMBL
  A0A8I3PKP8 ENTREZGENE, UniProtKB/TrEMBL
VGNC ID VGNC:58291 ENTREZGENE