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Aliases & Descriptions for APH1B
(According to
1 HGNC ,
2 Entrez Gene ,
3 UniProtKB/Swiss-Prot ,
4 UniProtKB/TrEMBL , 5 OMIM , 6 GeneLoc
, and/or 7 Ensembl ,
8 miRBase )About This Section
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Aliases APH-1B 1 , 2 APH-1b 3 Aph-1beta 3 DKFZp564D0372 1 , 2 FLJ33115 2 PRO1328 2 PSFL 1 , 2 , 3 TAAV688 2
Descriptions Presenilin-stabilization factor-like 3 anterior pharynx defective 1 homolog B (C. elegans) 2 anterior pharynx defective 1B-like 2 presenilin stabilization factor-like 2
Search outside databases for aliases for APH1B gene
Summaries for APH1B (According to Entrez Gene ,
Wikipedia's
Gene Wiki ,
UniProtKB/Swiss-Prot ,
and/or
UniProtKB/TrEMBL )
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EntrezGene summary for APH1B : APH1 is a multipass transmembrane protein that interacts with presenilin (see PSEN1; MIM 104311)and nicastrin (APH2; MIM 605254) as a functional component of the gamma-secretase complex. Thegamma-secretase complex is required for the intramembrane proteolysis of a number of membraneproteins, including the amyloid-beta precursor protein (APP; MIM 104760) and Notch (MIM190198).[supplied by OMIM] UniProtKB/Swiss-Prot: APH1B_HUMAN, Q8WW43 Function : Probable subunit of the gamma-secretase complex, an endoprotease complex that catalyzesthe intramembrane cleavage of integral proteins such as Notch receptors and APP (beta-amyloidprecursor protein). It probably represents a stabilizing cofactor for the presenilin homodimerthat promotes the formation of a stable complex. Probably present in a minority of gamma-secretasecomplexes compared to APH1A
Genomic Location for APH1B
(According to
GeneLoc and/or
HGNC , and/or
Entrez Gene (NCBI build 36) ,
and/or miRBase ,
Genomic Views according to
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Transcription factor binding sites according to
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Genomic View : UCSC Golden Path with GeneCards custom track Transcription factor binding sites upstream to the APH1B gene Entrez Gene cytogenetic band: 15q22.2 Ensembl cytogenetic band: 15q22.2 HGNC cytogenetic band: 15q22.2 APH1B Gene in genomic location: bands according to Ensembl, locations according to
(and/or Entrez Gene and/or Ensembl if different) GeneLoc gene densities for chromosome 15 GeneLoc Exon Structure
GeneLoc location for GC15P061357:
(about GC identifiers )
Start:
61,356,844 bp from pter
End:
61,385,807 bp from pter
Size:
28,964 bases
Orientation:
plus strand
RefSeq DNA sequence: NC_000015.8 NT_010194.16 Proteins for APH1B
(According to
1 UniProtKB ,
and/or Ensembl ,
Phosphorylation sites according to 2 Phosphosite ,
RefSeq according to NCBI ,
PDB rendering according to OCA and/or Proteopedia ,
Recombinant Proteins
from Invitrogen ,
Millipore ,
Sigma-Aldrich ,
R&D Systems ,
Enzo Life Sciences ,
Abnova ,
OriGene and/or,
Abcam ,
Biochemical Assays by
Invitrogen ,
Millipore ,
R&D Systems ,
Cell Signaling Technology , and/or
Enzo Life Sciences ,
Ontologies according to Gene
Ontology Consortium 01 Apr 2009 and
Entrez Gene ,
Antibodies by Invitrogen ,
Millipore ,
Sigma-Aldrich ,
R&D Systems ,
Cell Signaling Technology ,
Abcam ,
Abnova , and/or
Novus Biologicals )
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UniProtKB/Swiss-Prot: APH1B_HUMAN, Q8WW43 (See
protein sequence )Recommended Name: Gamma-secretase subunit APH-1B Size : 257 amino acids; 28460 Da
Subunit : Probable component of the gamma-secretase complex, a complex composed of a presenilinhomodimer (PSEN1 or PSEN2), nicastrin (NCSTN), APH1 (APH1A or APH1B) and PEN2. Such minimalcomplex is sufficient for secretase activity, although other components may exist (By similarity).Interacts with PSEN1 and PSEN2
Subcellular location : Membrane; Multi-pass membrane protein (Potential)
Secondary accessions : Q6UWQ1 Q9H0S0
REFSEQ proteins (2 alternative transcripts):
NP_001139118.1 NP_112591.2 ENSEMBL proteins: ENSP00000369697 ENSP00000369700 ENSP00000261879 Human Recombinant Proteins Browse Origene for full length recombinant human proteins expressed in human HEK293 cells 3 Gene Ontology (GO) cellular component terms (links to tree view) :
About this table Antibodies for APH1B: Assays for APH1B:
Protein
Domains/ Families for APH1B(According to InterPro , ProtoNet ,
UniProtKB , and/or BLOCKS ,
Sets of similar genes according to GeneDecks )
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Graphical View of Domain Structure for InterPro Entry Q8WW43 ProtoNet protein and cluster: Q8WW43
1 Blocks protein family : IPB009294 Aph-1 UniProtKB/Swiss-Prot: APH1B_HUMAN, Q8WW43 Similarity : Belongs to the APH-1 family
Gene Function for APH1B
(According to MGI Jun 06 2009, UniProtKB ,
IUBMB ,and/or Genatlas ,
shRNA from
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Sigma-Aldrich , RNAi from
Sigma-Aldrich ,
RNAi Products ,
Clones , and
Q-PCR Products
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SYBR primers from OriGene ,
Cell-based Assays from Millipore ,
Ontologies according to Gene Ontology Consortium 01 Apr 2009 via
Entrez Gene .)
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               OriGene 29mer shRNA kit in GFP-retroviral vectors (see all 2 ): NM_031301 Applied Biosystems Silencer ® siRNAs for APH1B Sigma-Aldrich siRNA and siRNA Panels for APH1B Sigma-Aldrich shRNA for APH1B Explore Sigma-Aldrich super-pooled esiRNAs                OriGene GFP tagged cDNA clones in CMV expression vector (see all 2 ): NM_001145646                                  Myc/DDK tagged cDNA clones in CMV expression vector (see all 2 ): NM_001145646                                  untagged cDNA clones in CMV expression vector (see all 2 ): NM_001145646  Primers: Browse
Quantitative PCR Central at Invitrogen for Q-PCR LUX™ Primers               OriGene genome-wide validated SYBR primer pairs: NM_031301 UniProtKB/Swiss-Prot: APH1B_HUMAN, Q8WW43 Function : Probable subunit of the gamma-secretase complex, an endoprotease complex that catalyzesthe intramembrane cleavage of integral proteins such as Notch receptors and APP (beta-amyloidprecursor protein). It probably represents a stabilizing cofactor for the presenilin homodimerthat promotes the formation of a stable complex. Probably present in a minority of gamma-secretasecomplexes compared to APH1A
1 MGI mutant phenotype (inferred from 1 allele ) (MGI details for Aph1b) :2 Gene Ontology (GO) molecular function terms (links to tree view) :
About this table
Pathways & Interactions for APH1B
(Pathways according to Invitrogen
(maps by GeneGo ),
Millipore ,
Cell Signaling Technology ,
Sigma-Aldrich ,
KEGG
and/or UniProtKB ,
Sets of similar genes according to GeneDecks ,
Proteins Network according to
SABiosciences ,
Interactions according to 1 UniProtKB ,
2 MINT , and/or
3 STRING ,
with links to IntAct and
Ensembl ,
Ontologies according to Gene Ontology Consortium 01 Apr 2009 via
Entrez Gene .)
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5 Sigma-Aldrich "Your Favorite Gene" Pathways for APH1B (Your Favorite Gene powered by Ingenuity) 5/21 Interacting proteins for APH1B (ENSP00000261879 3 ) via UniProtKB, MINT, and/or STRING (see all 21
)About this table 3 Gene Ontology (GO) biological process terms (links to tree view) :
About this table
Drugs & Compounds for APH1B (Chemical Compounds according to UniProtKB , Enzo Life Sciences ,
Sigma-Aldrich , Tocris Bioscience , and/or
Novoseek and Drugs according to
Enzo Life Sciences and/or
PharmGKB )
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Enzo Life Sciences drugs & compounds for APH1B
Sigma-Aldrich Small Molecules for APH1B:Inhibitor
Browse Tocris compounds for APH1B
Transcripts for APH1B(GenBank/EMBL/DDBJ Accessions according to
Unigene
(Build 219 Homo sapiens; Jun 2 2009) or GenBank , RefSeq according to Entrez Gene ,
DOTS (version 10), and/or
AceView ,
non coding RNAs according to
RNAdb ,
ESTs according to GeneTide ,
exon structure from GeneLoc ,
alternative splicing isoforms according to ASD and/or
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               OriGene 29mer shRNA kit in GFP-retroviral vectors (see all 2 ): NM_031301 Sigma-Aldrich siRNA and siRNA Panels for APH1B Sigma-Aldrich shRNA for APH1B Explore Sigma-Aldrich super-pooled esiRNAs
Applied Biosystems Silencer ® siRNAs: NM_031301
REFSEQ mRNAs for APH1B gene (2 alternative transcripts): NM_001145646.1 NM_031301.3
Applied Biosystems TaqMan ® Gene Expression Assays: NM_031301
               OriGene GFP tagged cDNA clones in CMV expression vector (see all 2 ): NM_001145646                                  Myc/DDK tagged cDNA clones in CMV expression vector (see all 2 ): NM_001145646                                  untagged cDNA clones in CMV expression vector (see all 2 ): NM_001145646  
Additional cDNA sequence: AB189172.1 AF508794.1 AK057677.1 AK291204.1 AK307456.1 AK307725.1 AK310843.1 AL136671.1 AY358698.1 BC020905.1
6 DOTS entries : DT.311571 DT.112952 DT.92022917 DT.75197896 DT.100842028 DT.95075202
24/164 AceView cDNA sequences (see all 164
):CA397429 BE218843 AW016528 BU742592 CA431257 AI279316 BM712104 AI819888 AW573194 NM_031301 CD672791 AA887975 AI693802 CA309393 AI143454 AI760754 BX398327 AW628257 AA557359 AI911870 CB163215 BX109247 BG210489 AI023997
highest scoring ESTs for APH1B :N31710 AA578718 AA805757 AA805770 AA805773 AA808355 AA861920 AA887975 AF508794 AI001990
Unigene Cluster for APH1B: Anterior pharynx defective 1 homolog B (C. elegans) Hs.511703 [show with all ESTs ] Unigene Representative Sequence: NM_031301 GeneLoc Exon Structure 5/8 Alternative Splicing Database (ASD) splice patterns (SP) for APH1B (see all 8
) ExUns: 1 ^ 2a · 2b · 2c · 2d · 2e ^ 3 ^ 4 ^ 5 ^ 6a · 6b · 6c ^ 7 ^ 8a · 8b ^ 9a · 9b · 9c · 9d SP1 :           -         -       -     -           SP2 :   -   -   -   -   -   -       -       -     -           SP3 :           -   -       -       -     -           SP4 :           -   -       -   -   -   -     -           SP5 :           -   -       -       -   -   -          
About this scheme ECgene alternative splicing isoforms for APH1B 3 Ensembl transcripts including schematic representations : ENST00000380340
ENST00000380343
ENST00000261879
Expression for APH1B
(Experimental results according to
1 GeneNote
and GNF BioGPS ,
probe sets-to-genes annotations according to
2 GeneAnnot ,
3 GeneTide ,
Sets of similar genes according to GeneDecks ,
Electronic Northern calculations according to data from
UniGene (Build 219 Homo sapiens),
SAGE tags according to
CGAP ,
plus additional links to
SOURCE , and/or
GNF
BioGPS , and/or
EXPOLDB , and/or
UniProtKB ,
Expression Assays from
Applied Biosystems
)
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APH1B expression in normal and diseased human tissues Applied Biosystems TaqMan ® Gene Expression Assays for APH1B 1 / 2 / 3
7 probe-sets matching APH1B gene Data from
(Publications) and GNF BioGPS About these images About these images CGAP SAGE TAG: --SOURCE GeneReport for Unigene cluster: Hs.511703 UniProtKB/Swiss-Prot: APH1B_HUMAN, Q8WW43 Tissue specificity : Weakly or not expressed in leukocytes, lung, placenta, small intestine, liver,kidney, spleen thymus, colon, skeletal muscle, heart and brain
Orthologs for APH1B
(Orthologs according to
1,2 HomoloGene (2 older version, for species not in 1 newer version),
3 euGenes ,
4 SGD
and/or
5 MGI Jun 06 2009,
with possible further links to
Flybase
and/or
WormBase ,
Gene Trees according to Ensembl )
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Orthologs for APH1B gene from 5 species
About this table Species with no ortholog for APH1B ENSEMBL Gene Tree for APH1B Paralogs for APH1B (Paralogs according to 1 HomoloGene and 2 Ensembl , Pseudogenes according to 3 Pseudogene.org )About This Section
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Paralogs for APH1B gene APH1A 2
SNPs/Variants for APH1B (According to the
1 NCBI SNP Database ,
2 Ensembl ,
3 PupaSUITE , and
UniProtKB ,
Linkage Disequilibrium by HapMap ,
Genotyping Reagents from
Applied Biosystems )
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HapMap Linkage Disequilibrium images for APH1B (up to first 250kb)
Disorders & Mutations for APH1B
(in which this Gene is Involved, According to
OMIM, UniProtKB ,
PharmGKB ,
Genatlas , GeneTests ,
Blood group antigen gene mutations by BGMUT ,
HGMD, GAD ,
HuGE Navigator ,
BCGD ,
and/or TGDB .)
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OMIM: 607630 Human Gene Mutation Database : APH1B Human Genome Epidemiology Navigator: APH1B (3 documents)
Medical News for APH1B (Possibly Related Articles in
Doctor's Guide )
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--
Publications for APH1B (in
PubMed .
Associations of this gene to articles via
1 Novoseek ,
2 HGNC ,
3 Entrez Gene ,
4 UniProtKB/Swiss-Prot ,
5 UniProtKB/TrEMBL ,
6 GAD , and/or
7 PharmGKB )
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10/28 PubMed articles for APH1B gene (see all 28
): Towards a catalog of human genes and proteins: sequencing and analysis of 500 novel complete protein coding human cDNAs. (PubMed id 11230166) 2, 3, 4 Wiemann S.... Poustka A. (2001) The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334) 3, 4 Gerhard D.S....Malek J. (2004) Gamma-secretase is a membrane protein complex comprised of presenilin, nicastrin, Aph-1, and Pen-2. (PubMed id 12740439) 3, 4 Kimberly W.T....Selkoe D.J. (2003) The secreted protein discovery initiative (SPDI), a large-scale effort to identify novel human secreted and transmembrane proteins: a bioinformatics assessment. (PubMed id 12975309) 3, 4 Clark H.F....Gray A. (2003) Mammalian APH-1 interacts with presenilin and nicastrin and is required for intramembrane proteolysis of amyloid-beta precursor protein and Notch. (PubMed id 12297508) 3, 4 Lee S.-F.... Yu G. (2002) aph-1 and pen-2 are required for Notch pathway signaling, gamma-secretase cleavage of betaAPP, and presenilin protein accumulation. (PubMed id 12110170) 2, 3 Francis R....Curtis D. (2002) Identification of distinct gamma-secretase complexes with different APH-1 variants. (PubMed id 15286082) 1, 3 Shirotani K....Steiner H. (2004) Interaction between the APOE varepsilon4 allele and the APH-1b c+651T>G SNP in Alzheimer's disease. (PubMed id 17466415) 1, 3 Poli M....Finazzi D. (2007) Expression profiles of two human APH-1 genes and their roles in formation of presenilin complexes. (PubMed id 15629423) 1, 3 Saito S. and Araki W. (2005) Characterization of APH-1 mutants with a disrupted transmembrane GxxxG motif. (PubMed id 16757808) 1, 3 Araki W....Murayama K.S. (2006)
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Genome Databases showing APH1B
(According to
Entrez Gene ,
HGNC ,
AceView ,
euGenes ,
Ensembl ,
miRBase ,
ECgene ,
and/or
H-InvDB )
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Other Databases showing APH1B
(According to HUGE )
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--
Specialized Databases showing APH1B (According to ATLAS , HORDE , IMGT , MTDB, LEIDEN , UniProtKB/Swiss-Prot , and/or UniProtKB/TrEMBL ,Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot )About This Section
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-- Services for APH1B (Reagents available from Applied Biosystems , Antibodies and assays by Cell
Signaling Technology , Abcam , Novus Biologicals ,Sigma-Aldrich , R&D Systems , Millipore , Abnova , and/or Invitrogen , Clones available from OriGene ,and/or Invitrogen , Drugs and/or compounds by Sigma-Aldrich , Enzo Life Sciences , and/or Tocris Bioscience )About This Section
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