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APH1B Gene

protein-coding   GIFtS: 53

GC15P061357
anterior pharynx defective 1 homolog B (C. elegans)
Symbol approved by the HUGO Gene Nomenclature Committee (HGNC) database
Services    
(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc , and/or 7Ensembl, 8miRBase)
About This Section

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
External Ids
HGNC: 240801
Entrez Gene: 834642
UniProtKB: Q8WW433
Ensembl: ENSG000001386137
Search outside databases for aliases for APH1B gene

(According to Entrez Gene, Wikipedia's Gene Wiki,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

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. The
gamma-secretase complex is required for the intramembrane proteolysis of a number of membrane
proteins, including the amyloid-beta precursor protein (APP; MIM 104760) and Notch (MIM
190198).[supplied by OMIM]

UniProtKB/Swiss-Prot: APH1B_HUMAN, Q8WW43
Function: Probable subunit of the gamma-secretase complex, an endoprotease complex that catalyzes
the intramembrane cleavage of integral proteins such as Notch receptors and APP (beta-amyloid
precursor protein). It probably represents a stabilizing cofactor for the presenilin homodimer
that promotes the formation of a stable complex. Probably present in a minority of gamma-secretase
complexes compared to APH1A

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 36),
and/or miRBase,
Genomic Views according to UCSC and Ensembl, Transcription factor binding sites according to SABiosciences)
About This Section

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  
(According to 1UniProtKB, and/or Ensembl, Phosphorylation sites according to 2Phosphosite, 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 presenilin
homodimer (PSEN1 or PSEN2), nicastrin (NCSTN), APH1 (APH1A or APH1B) and PEN2. Such minimal
complex 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 Drug Discovery Central at Invitrogen for human recombinant proteins
Browse Purified and Recombinant Proteins at Millipore
Browse Human Recombinant Proteins at Sigma-Aldrich  
Browse R&D Systems for human recombinant proteins
Browse recombinant and purified proteins available from Enzo Life Sciences
Recombinant Proteins from Abcam (Aph 1b)
Browse Abnova for 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):

GO IDQualified GO termEvidencePubMed IDs
GO:0016020 membrane IEA--
GO:0016021 integral to membrane IDA12297508
GO:0030133 transport vesicle IDA11256614
About this table

Antibodies for APH1B: 
Browse Antibodies Central at Invitrogen
Browse Millipore's Extensive Line of Mono- and Polyclonal Antibodies
Browse Antibodies at Sigma-Aldrich
Browse R&D Systems for Antibodies
Antibodies from Abcam (Aph 1b), each with their AbpromiseSM
Browse Abnova for Monoclonal and Polyclonal Antibodies
Search Novus for antibodies for APH1B

Assays for APH1B: 
Browse Invitrogen for biochemical assays
Browse Kits and Assays available from Millipore
Browse R&D Systems for biochemical assays
Browse biochemical assays available from Enzo Life Sciences

(According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
About This Section

1 InterPro domain/family:
 IPR009294 Aph-1


   GeneDecks  APH1B for the domains selected above  
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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

(According to MGI Jun 06 2009, UniProtKB, IUBMB,and/or Genatlas,
shRNA from OriGene, Sigma-Aldrich, RNAi from Sigma-Aldrich,
RNAi Products, Clones, and Q-PCR Products from Invitrogen, Millipore, OriGene, and/or Abnova, siRNAs from Applied Biosystems, SYBR primers from OriGene, Cell-based Assays from Millipore, Ontologies according to Gene Ontology Consortium 01 Apr 2009 via Entrez Gene.)
About This Section

Inhib.
RNA:
Invitrogen RNAi Products for gene knock-down (APH1B)
Browse for Gene Knock-down Tools from Millipore
Browse Abnova for Chimera RNAi Products
               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  

Clones:Invitrogen Clones for APH1B
Browse Clones for the Expression of Recombinant Proteins Available from Millipore
               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 catalyzes
the intramembrane cleavage of integral proteins such as Notch receptors and APP (beta-amyloid
precursor protein). It probably represents a stabilizing cofactor for the presenilin homodimer
that promotes the formation of a stable complex. Probably present in a minority of gamma-secretase
complexes compared to APH1A

1 MGI mutant phenotype (inferred from 1 allele(MGI details for Aph1b):

normal

2 Gene Ontology (GO) molecular function terms (links to tree view):

GO IDQualified GO termEvidencePubMed IDs
GO:0005515 protein binding IPI12297508
GO:0008233 peptidase activity IDA12297508
About this table

(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 1UniProtKB, 2MINT, and/or 3STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2009 via Entrez Gene.)
About This Section

1 Invitrogen iPath™ Online BioAtlas - Pathway for APH1B (Maps provided by GeneGo):
 The role of amyloid proteins in cell adhesion

   GeneDecks  APH1B for the pathways selected above  
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1 Millipore Pathway for APH1B
 Development Notch Signaling Pathway

   GeneDecks  APH1B for the pathways selected above  
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5 Sigma-Aldrich "Your Favorite Gene" Pathways for  APH1B  (Your Favorite Gene powered by Ingenuity) 
 Amyloid Processing
 Lysine Degradation
 Mitochondrial Dysfunction
 Molecular Mechanisms of Cancer
 Notch Signaling

   GeneDecks  APH1B for the pathways selected above  
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5/21 Interacting proteins for APH1B (ENSP000002618793) via UniProtKB, MINT, and/or STRING (see all 21 )
InteractantInteraction Details
GeneCardExternal ID(s)
NCSTNENSP000002947853STRING (score=.998)
PSEN1ENSP000003263663STRING (score=.998)
PSEN2ENSP000003557463STRING (score=.997)
PSENENENSP000002222663STRING (score=.996)
NOTCH1ENSP000003607653STRING (score=.953)
About this table

3 Gene Ontology (GO) biological process terms (links to tree view):

GO IDQualified GO termEvidencePubMed IDs
GO:0007219 Notch signaling pathway IEA--
GO:0016485 protein processing IDA12297508
GO:0043085 positive regulation of catalytic activity IEA--
About this table
(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)
About This Section

Enzo Life Sciences drugs & compounds for APH1B
Sigma-Aldrich Small Molecules for APH1B:
Inhibitor

Browse Tocris compounds 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 ECgene,
RNAi Products from Invitrogen, Millipore, and/or Abnova,
siRNAs from Applied Biosystems, Sigma-Aldrich,
shRNA from Sigma-Aldrich, OriGene,
Tagged/untagged cDNA clones from OriGene,
Expression Assays from Applied Biosystems)
About This Section

Inhib.
RNA:
Invitrogen RNAi Products for gene knock-down (APH1B)
Browse for Gene Knock-down Tools from Millipore
Browse Abnova for Chimera RNAi Products
               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  
(Experimental results according to 1GeneNote and GNF BioGPS,
probe sets-to-genes annotations according to 2GeneAnnot , 3GeneTide , 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 )
About This Section

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


Affymetrix
probe-set
Array  GeneAnnot data GeneNote data GeneTide data
# genes Sensitivity Specificity Correlation Length Gb_Accession Consensus Uniqueness Score Rank

65643_at2, 3 U95-C 1 1.00 1.00 0.94 1.22 AI307757 0.20 0.12 0.17 2
91572_at2 U95-E 1 1.00 1.00 0.92 0.83 -- -- -- -- --
62125_at2, 3 U95-C 2 0.94 0.97 0.84 0.97 N31710 0.80 1.00 0.91 1

221036_s_at2, 3 U133-A 1 1.00 1.00 -- -- NM_031301 0.60 0.83 0.73 1

226358_at2, 3 U133-B 2 1.00 0.95 -- -- AW237258 0.20 0.17 0.18 2

221036_s_at2 U133Plus2 1 1.00 1.00 -- -- -- -- -- -- --

226358_at2 U133Plus2 2 1.00 0.95 -- -- -- -- -- -- --
GeneDecks  APH1B for binary patterns associated with the probe-sets selected above  
About GeneDecksing
About this table    
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 according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD and/or 5MGI Jun 06 2009, with possible further links to Flybase and/or WormBase, Gene Trees according to Ensembl)
About This Section


Orthologs for APH1B gene from 5 species
Organism Gene Locus Description Human
Similarity
NCBI accessions
dog
(Canis familiaris)
APH1B1   -- anterior pharynx defective 1 homolog B (C. elegans) 86.22(n)
82.67(a)
487589  XM_544714.2  XP_544714.2 
chimpanzee
(Pan troglodytes)
APH1B1   -- anterior pharynx defective 1 homolog B (C. elegans) 99.22(n)
100(a)
467700  XM_523094.2  XP_523094.2 
cow
(Bos taurus)
APH1B1   -- anterior pharynx defective 1 homolog B (C. elegans) 86.12(n)
83.27(a)
530913  XM_865991.2  XP_871084.1 
rat
(Rattus norvegicus)
Aph1b1   -- anterior pharynx defective 1 homolog B (C. elegans) 86.51(n)
82.88(a)
300802  XM_217185.4  XP_217185.2 
mouse
(Mus musculus)
Aph1b1, 5 95
anterior pharynx defective 1b homolog (C. elegans)1, 5 86.64(n)1
84.05(a)1
2081171  NM_177583.31  NP_808251.11 
 AK0099645  AK0285215  (see all 9)
About this table        Species with no ortholog for APH1B

ENSEMBL Gene Tree for APH1B
(Paralogs according to 1HomoloGene
and 2Ensembl, Pseudogenes according to 3Pseudogene.org)
About This Section

Paralogs for APH1B gene
APH1A2  

(According to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, and UniProtKB, Linkage Disequilibrium by HapMap, Genotyping Reagents from Applied Biosystems)
About This Section


10/160 NCBI SNPs in APH1B are shown (see all 160 )
(Click for Applied Biosystems TaqMan ® Genotyping Assay)  (see all 69)
ABGenomic DataTranscription DataAllele Frequencies
SNP IDValidChr 15 posSequenceRecsAA
Chg
TypeMoreRecsAllele
freq
PopTotal
sample
More
------------
rs7453381,2
A,C,F,H,O61385483(-) ATAAAA/CGATAA 1 -- ng3119Minor allele frequency- C:0.29NS MN EU EA WA NA 2662
--
rs37846711,2
C,F,H61356237(-) TTACCG/TTTTGG 1 -- ng515Minor allele frequency- T:0.23EA EU WA 1900
rs10475521,2
C,F,H61384910(+) GCATTT/GATAAT 1 L/F mis113Minor allele frequency- G:0.11MN NA EU EA WA 1240
rs37846721,2
F,H61356070(-) CAATTC/ATTCAA 1 -- ng515Minor allele frequency- A:0.09EA EU WA 1910
--
rs71659181,2
C61356750(+) TGCCCA/CTGAGC 1 -- ng510--------
rs22918811,2
A,C,F,H,O61384692(+) ATCTGC/TTGACC 1 -- int113Minor allele frequency- T:0.25EA EU WA NA 2550
rs20681431,2
A,C,F,H,O61375715(+) TGGCAG/ATTTCT 1 -- int116Minor allele frequency- A:0.30EU EA WA NA 1416
rs71633681,2
A,C,F,H61358174(+) GGTCAT/CTGAAA 1 -- int18Minor allele frequency- C:0.41EU EA WA 840
rs71627521,2
A,C,F,H61365591(+) TTATGC/GGAATG 1 -- int116Minor allele frequency- G:0.08NS NA EU EA WA 1064
rs71668811,2
A,C,F,H61379851(+) TTTCCA/GGGGTC 1 -- int112Minor allele frequency- G:0.31EU EA WA NA 1054
About this table

HapMap Linkage Disequilibrium images for APH1B (up to first 250kb)

(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.)
About This Section

OMIM: 607630

Human Gene Mutation Database: APH1B
Human Genome Epidemiology Navigator: APH1B (3 documents)

(Possibly Related Articles in Doctor's Guide)
About This Section

  --

(in PubMed. Associations of this gene to articles via 1Novoseek, 2HGNC, 3Entrez Gene, 4UniProtKB/Swiss-Prot, 5UniProtKB/TrEMBL, 6GAD, and/or 7PharmGKB)
About This Section

10/28 PubMed articles for APH1B gene (see all 28 ):
(in PubMed, OMIM, and NCBI Bookshelf)
About This Section

 ANDOR
Aliases
Free Text  

  Query String
PubMed
OMIM
NCBI Bookshelf
  (Note: In FireFox, select the above section and copy using Ctrl-C)
(According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, and/or H-InvDB)
About This Section

Entrez Gene: 83464 HGNC: 24080 AceView: PSFL Ensembl:ENSG00000138613 euGenes: HUgn83464
ECgene: APH1B H-InvDB: APH1B
(According to HUGE)
About This Section

  --
(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

  --
(Available from WIS Yeda, Salk, Tufts)
About This Section

  --
(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



Products for APH1B:
 TaqMan ® Gene Expression Assays
 TaqMan ® Genotyping Assays
  Free SNP selection tool



  Invitrogen iPath Pathways  Invitrogen BLOCK-iT™ RNAi
  Invitrogen Antibodies  Invitrogen Assays
  Invitrogen Clones  Invitrogen Q-PCR Products
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  Invitrogen Proteins / Assays / Screening Services  Search Invitrogen catalog for APH1B-related products

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 Predesigned and custom siRNAs for APH1B Browse antibodies at Sigma-Aldrich
 Explore super-pooled esiRNAs Browse proteins at Sigma-Aldrich
 Lentivirus-delivered shRNAs for APH1B Small molecules for APH1B
 "Your Favorite Gene" Pathwaysfeedback


  
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 Search Novus for antibodies for APH1B

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