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Aliases & Descriptions for APBA1
(According to
1HGNC,
2Entrez Gene,
3UniProtKB/Swiss-Prot,
4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc
, and/or 7Ensembl,
8miRBase) About This Section
|
| Aliases |
|---|
| D9S411E 1, 2 | | MINT1 2, 3 | | Mint-1 3 | | OTTHUMP00000021438 2 | | X11 1, 2, 3, 5 | | X11A 2 | | X11ALPHA 2 |
| | | Descriptions |
|---|
| Adapter protein X11alpha 3 | | Neuron-specific X11 protein 2, 3 | | Neuronal Munc18-1-interacting protein 1 2, 3 | | adaptor protein X11alpha 2 | amyloid beta (A4) precursor protein-binding, family A, member 1 2 | amyloid beta (A4) precursor protein-binding, family A, member 1 (X11) 2 | amyloid beta A4 precursor protein-binding, family A, member 1 2 | | amyloid beta precursor protein-binding, family A, member 1 1 | phosphotyrosine-binding/-interacting domain (PTB)-bearing protein 2 |
|
| | Search outside databases for aliases for APBA1 genePrevious GC identifers: GC09M063089 GC09M063901 GC09M065615 GC09M067502 GC09M069274 |
Summaries for APBA1(According to Entrez Gene,
Wikipedia's
Gene Wiki,
UniProtKB/Swiss-Prot,
and/or
UniProtKB/TrEMBL)
About This Section
| EntrezGene summary for APBA1: The protein encoded by this gene is a member of the X11 protein family. It is a neuronal adapter protein that interacts with the Alzheimer's disease amyloid precursor protein (APP). It stabilizes APP and inhibits production of proteolytic APP fragments including the A beta peptide that is deposited in the brains of Alzheimer's disease patients. This gene product is believed to be involved in signal transduction processes. It is also regarded as a putative vesicular trafficking protein in the brain that can form a complex with the potential to couple synaptic vesicle exocytosis to neuronal cell adhesion. [provided by RefSeq] UniProtKB/Swiss-Prot: APBA1_HUMAN, Q02410Function: Putative function in synaptic vesicle exocytosis by binding to Munc18-1, an essential component of the synaptic vesicle exocytotic machinery. May modulate processing of the beta-amyloid precursor protein (APP) and hence formation of beta-APPGene Wiki entry for APBA1 |
Genomic Location for APBA1
(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 APBA1 gene 
Entrez Gene cytogenetic band: 9q13-q21.1 Ensembl cytogenetic band: 9q21.11 HGNC cytogenetic band: 9q13-q21APBA1 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 9 GeneLoc Exon Structure GeneLoc location for GC09M071235:
(about GC identifiers)
Start:
|
71,235,022 bp from pter |
End:
|
71,477,042 bp from pter |
Size:
|
242,021 bases |
Orientation:
|
minus strand |
RefSeq DNA sequence:- NC_000009.10 NT_023935.17
| Proteins for APBA1
(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)
About This Section
| UniProtKB/Swiss-Prot: APBA1_HUMAN, Q02410 (See
protein sequence)Recommended Name: Amyloid beta A4 precursor protein-binding family A member 1 Size: 837 amino acids; 92865 Da
Subunit: Part of a multimeric complex containing Munc18-1 and syntaxin-1. Also part of the brain-specific heterotrimeric complex LIN-10/X11-alpha, LIN-2/CASK, and LIN7. Binds to the cytoplasmic domain of amyloid protein (APP)
PDB structures from and Proteopedia :1AQC (3D)
 1U37 (3D)
 1U38 (3D)
 1U39 (3D)
 1U3B (3D)
 1X11 (3D)
 1X45 (3D)
 1Y7N (3D)
 
Secondary accessions: O14914 O60570 Q5VYR8Post-translational modifications:
View phosphorylation sites using PhosphoSite2
REFSEQ proteins: NP_001154.2
ENSEMBL proteins: ENSP00000265381
Human Recombinant Proteins Browse Origene for full length recombinant human proteins expressed in human HEK293 cells 
1 Gene Ontology (GO) cellular component term (links to tree view): About this table
Antibodies for APBA1: Assays for APBA1: | Protein
Domains/ Families for APBA1(According to InterPro, ProtoNet,
UniProtKB, and/or BLOCKS,
Sets of similar genes according to GeneDecks)
About This Section
| - Graphical View of Domain Structure for InterPro Entry Q02410
ProtoNet protein and cluster: Q02410 2 Blocks protein families: IPB001478 PDZ/DHR/GLGF domain IPB006020 Phosphotyrosine interaction domain
UniProtKB/Swiss-Prot: APBA1_HUMAN, Q02410Domain: Composed of an N-terminal domain that binds Munc18-1 and LIN-2/CASK, a middle phosphotyrosine-binding domain (PID/PTB) that mediates binding with the cytoplasmic domain of the beta-amyloid precursor protein, and two C-terminal PDZ domains thought to attach proteins to the plasma membraneSimilarity: Contains 2 PDZ (DHR) domainsSimilarity: Contains 1 PID domain | Gene Function for APBA1
(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
|               OriGene 29mer shRNA kit in GFP-retroviral vector: NM_001163
Applied Biosystems Silencer® siRNAs for APBA1
Sigma-Aldrich siRNA for APBA1  Sigma-Aldrich shRNA Panels and shRNA for APBA1  Explore Sigma-Aldrich super-pooled esiRNAs 
              OriGene GFP tagged cDNA clone in CMV expression vector: NM_001163                                  Myc/DDK tagged cDNA clone in CMV expression vector: NM_001163                                  untagged cDNA clone in CMV expression vector: NM_001163 
Primers: Browse
Quantitative PCR Central at Invitrogen for Q-PCR LUX™ Primers               OriGene genome-wide validated SYBR primer pairs: NM_001163
UniProtKB/Swiss-Prot: APBA1_HUMAN, Q02410Function: Putative function in synaptic vesicle exocytosis by binding to Munc18-1, an essential component of the synaptic vesicle exocytotic machinery. May modulate processing of the beta-amyloid precursor protein (APP) and hence formation of beta-APP5 MGI mutant phenotypes (inferred from 3 alleles ) (MGI details for Apba1):
1 Gene Ontology (GO) molecular function term (links to tree view): About this table | Pathways & Interactions for APBA1
(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
|
Gene Network CentralTM Interacting Genes and Proteins Network for APBA1 
5/29 Interacting proteins for APBA1 (Q024101, 2 ENSP000002653813) via UniProtKB, MINT, and/or STRING (see all 29
)About this table
5/12 Gene Ontology (GO) biological process terms (links to tree view) (see all 12
): About this table
|
Drugs & Compounds for APBA1(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
|
Browse Tocris compounds for APBA1 1 Novoseek chemical compound relationship for APBA1 gene
About this table
|
Transcripts for APBA1(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
|               OriGene 29mer shRNA kit in GFP-retroviral vector: NM_001163
Sigma-Aldrich siRNA for APBA1  Sigma-Aldrich shRNA Panels and shRNA for APBA1  Explore Sigma-Aldrich super-pooled esiRNAs 
Applied Biosystems Silencer® siRNAs: NM_001163 REFSEQ mRNAs for APBA1 gene: NM_001163.3
Applied Biosystems TaqMan ® Gene Expression Assays: NM_001163               OriGene GFP tagged cDNA clone in CMV expression vector: NM_001163                                  Myc/DDK tagged cDNA clone in CMV expression vector: NM_001163                                  untagged cDNA clone in CMV expression vector: NM_001163  Additional cDNA sequence: AF029106.1 AF047347.1 AL713639.1 L04953.1 4 DOTS entries: DT.97839167 DT.210563 DT.91750255 DT.91688876 24/29 AceView cDNA sequences (see all 29
):AI075072 NM_001163 BX507808 BF435835 BQ285938 AI289020 BQ269294 BV204962 BF056458 AF029106 AI989967 BM689397 AF047347 T28886 BE645317 BM510765 BM857518 L04953 AA860795 BE463483 BM857742 BM511013 T03550 AW235364
highest scoring ESTs for APBA1:AF047347 AF029106 BQ269294 AA670216 AA860795 AI075072 AI289020 AI989967 AW235364 BE463483 Unigene Cluster for APBA1: Amyloid beta (A4) precursor protein-binding, family A, member 1 Hs.171939 [show with all ESTs]Unigene Representative Sequence: NM_001163
GeneLoc Exon Structure
1 Ensembl transcript including schematic representation: ENST00000265381
|
Expression for APBA1
(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
| APBA1 expression in normal and diseased human tissues
Applied Biosystems TaqMan ® Gene Expression Assays for APBA1
1 / 2 / 3 6 probe-sets matching APBA1 gene Data from
(Publications) and GNF BioGPS About these images About these images
CGAP SAGE TAG: --
SOURCE GeneReport for Unigene cluster: Hs.171939
Expression variation in blood from EXPOLDB for APBA1 UniProtKB/Swiss-Prot: APBA1_HUMAN, Q02410Tissue specificity: Brain and spinal cord |
Orthologs for APBA1
(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 APBA1 gene from 5/9 species (see all 9
)
About this table Species with no ortholog for APBA1
ENSEMBL Gene Tree for APBA1 | Paralogs for APBA1(Paralogs according to 1HomoloGene and 2Ensembl, Pseudogenes according to 3Pseudogene.org) About This Section
| Paralogs for APBA1 gene
- APBA22 APBA32
|
SNPs/Variants for APBA1(According to the
1NCBI SNP Database,
2Ensembl,
3PupaSUITE, and
UniProtKB,
Linkage Disequilibrium by HapMap,
Genotyping Reagents from
Applied Biosystems)
About This Section
|
HapMap Linkage Disequilibrium images for APBA1 (up to first 250kb)
|
Disorders & Mutations for APBA1
(in which this Gene is Involved, According to
OMIM, UniProtKB,
Novoseek, PharmGKB,
Genatlas, GeneTests,
Blood group antigen gene mutations by BGMUT,
HGMD, GAD,
HuGE Navigator,
BCGD,
and/or TGDB.)
About This Section
|
OMIM: 602414
2 Novoseek disease relationships for APBA1 gene
About this table
|
Medical News for APBA1(Possibly Related Articles in
Doctor's Guide)
About This Section
| -- |
Publications for APBA1 (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
| 10/47 PubMed articles for APBA1 gene (see all 47
):- Gene in the region of the Friedreich ataxia locus encodes a putative transmembrane protein expressed in the nervous system. (PubMed id 7678331)2, 3, 4 Duclos F.... Mandel J.-L. (1993)
- The X11alpha protein slows cellular amyloid precursor protein processing and reduces Abeta40 and Abeta42 secretion. (PubMed id 9614075)1, 3, 4 Borg J.-P.... Turner R.S. (1998)
- The phosphotyrosine interaction domains of X11 and FE65 bind to distinct sites on the YENPTY motif of amyloid precursor protein. (PubMed id 8887653)1, 3, 4 Borg J.-P.... Margolis B. (1996)
- Sequence-specific recognition of the internalization motif of the Alzheimer's amyloid precursor protein by the X11 PTB domain. (PubMed id 9321393)1, 3, 4 Zhang Z.... Kuriyan J. (1997)
- DNA sequence and analysis of human chromosome 9. (PubMed id 15164053)3, 4 Humphray S.J.... Dunham I. (2004)
- Mints, Munc18-interacting proteins in synaptic vesicle exocytosis. (PubMed id 9395480)3, 4 Okamoto M. and Suedhof T.C. (1997)
- Comparison of primary structure of a neuron-specific protein, X11, between human and mouse. (PubMed id 7719031)2, 3 Duclos F. and Koenig M. (1995)
- Modulation of amyloid precursor protein metabolism by X11alpha /Mint-1. A deletion analysis of protein-protein interaction domains. (PubMed id 11010978)1, 3 Mueller H.T....Turner R.S. (2000)
- X11alpha impairs gamma- but not beta-cleavage of amyloid precursor protein. (PubMed id 14756819)1, 3 King G.D....Turner R.S. (2004)
- RNA interference-mediated silencing of X11alpha and X11beta attenuates amyloid beta-protein levels via differential effects on beta-amyloid precursor protein processing. (PubMed id 15699037)1, 3 Xie Z....Tanzi R.E. (2005)
|
Search for APBA1
(in PubMed,
OMIM, and NCBI Bookshelf) About This Section
|
|
Genome Databases showing APBA1
(According to
Entrez Gene,
HGNC,
AceView,
euGenes,
Ensembl,
miRBase,
ECgene,
and/or
H-InvDB)
About This Section
|
| Other Databases showing APBA1
(According to HUGE)
About This Section
| -- |
Specialized Databases showing APBA1(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
|
| About This Section
| --
| Services for APBA1(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 APBA1:

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Incremental update: 13 Oct 2009
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