Aliases &
Descriptions
for APBA1 gene
(According to
1HGNC,
2Entrez Gene,
3UniProtKB/Swiss-Prot,
4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc
, and/or 7Ensembl,
8miRBase)
About This Section
|
| Aliases & Descriptions |
|---|
| amyloid beta (A4) precursor protein-binding, family A, member 11 2 | | adaptor protein X11alpha2 | | X111 2 3 5 | | mint-12 | | D9S411E1 2 5 | | amyloid beta (A4) precursor protein-binding, family A, member 1 (X11)2 | | MINT12 3 5 | | amyloid beta A4 precursor protein-binding family A member 12 | | Neuron-specific X11 protein2 3 | | X11A2 | | Neuronal Munc18-1-interacting protein 12 3 | | phosphotyrosine-binding/-interacting domain (PTB)-bearing protein2 | | Adapter protein X11alpha2 3 | | X11ALPHA2 | | LIN102 5 | | Mint-13 |
Export aliases for APBA1 gene to outside databasesPrevious GC identifers: GC09M063089 GC09M063901 GC09M065615 GC09M067502 GC09M069274 GC09M071235 GC09M072042 |
Summaries
for APBA1 gene(According to Entrez Gene,
Tocris Bioscience,
Wikipedia's
Gene Wiki,
UniProtKB/Swiss-Prot,
and/or
UniProtKB/TrEMBL)
About This Section
|
Entrez Gene summary for APBA1:
The protein encoded by this gene is a member of the X11 protein family. It is a neuronal adapter protein that interactswith the Alzheimer's disease amyloid precursor protein (APP). It stabilizes APP and inhibits production of proteolyticAPP fragments including the A beta peptide that is deposited in the brains of Alzheimer's disease patients. This geneproduct is believed to be involved in signal transduction processes. It is also regarded as a putative vesiculartrafficking protein in the brain that can form a complex with the potential to couple synaptic vesicle exocytosis toneuronal 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 thesynaptic vesicle exocytotic machinery. May modulate processing of the beta-amyloid precursor protein (APP) and henceformation of beta-APP
Gene Wiki entry for APBA1 |
Genomic Views
for APBA1 gene
(According to
GeneLoc and/or
HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to
UCSC (hg19) and
Ensembl (release 60),
Regulatory elements and Epigenetics data according to
Qiagen and/or
SABiosciences)
About This Section
|
Regulatory elements:
 SABiosciences Regulatory transcription factor binding sites in the APBA1 gene promoter:
AP-1 p53 c-Jun c-Fos ISGF-3 Sox9 GATA-1 SRY CUTL1 NRSF form 2
Other transcription factors
Search SABiosciences Chromatin IP Primers for APBA1
Epigenetics:
|  | QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays for APBA1  |
Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track
Entrez Gene cytogenetic band: 9q13-q21.1 Ensembl cytogenetic band: 9q21.12 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 GC09M041881: view genomic region
(about GC identifiers)
Start:
|
41,881,637 bp from pter |
End:
|
42,126,250 bp from pter |
Size:
|
244,614 bases |
Orientation:
|
minus strand |
2 alternative locations:
| Chr9-,PATCHES 72,050,667-72,099,278 | Chr9- 72,045,204-72,287,222 |
RefSeq DNA sequence:- NC_000009.11 NT_008470.19
|
Proteins
for APBA1 gene
(According to
1UniProtKB,
neXtProt,
and/or Ensembl,
Phosphorylation sites according to 2Phosphosite,
RefSeq according to NCBI,
PDB rendering according to OCA and/or Proteopedia,
Recombinant Proteins
from
Millipore,
Sigma-Aldrich,
R&D Systems,
GenScript,
Enzo Life Sciences,
OriGene,
Novus Biologicals,
Sino Biological, and/or
ProSpec,
Biochemical Assays by
Millipore,
Sigma-Aldrich,
R&D Systems,
OriGene,
GenScript,
Cell Signaling Technology,
Enzo Life Sciences, and/or
Uscn,
Ontologies according to Gene
Ontology Consortium 01 Dec 2010 and
Entrez Gene,
Antibodies by
Millipore,
Sigma-Aldrich,
R&D Systems,
GenScript,
Cell Signaling Technology,
OriGene,
Novus Biologicals, and/or
Epitomics)
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-specificheterotrimeric 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 Q5VYR8Explore the universe of human proteins at neXtProt for APBA1: NX_Q02410
Post-translational modifications:
View phosphorylation sites using PhosphoSite2
REFSEQ proteins: NP_001154.2
ENSEMBL proteins: ENSP00000265381
Human Recombinant Proteins
2 Gene Ontology (GO) cellular component terms (GO ID links to tree view): About this table
APBA1 for ontologies About GeneDecksing
Antibodies for APBA1:
Assays for APBA1: |
Protein
Domains/
Families
for APBA1 gene(According to InterPro, ProtoNet,
UniProtKB, and/or BLOCKS,
Sets of similar genes according to GeneDecks)
About This Section
|
APBA1 for domains About GeneDecksing
3 InterPro domains/families:Graphical View of Domain Structure for InterPro Entry Q02410ProtoNet 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-terminalPDZ domains thought to attach proteins to the plasma membraneSimilarity: Contains 2 PDZ (DHR) domainsSimilarity: Contains 1 PID domain |
Gene Function
for APBA1 gene
(According to UniProtKB,
IUBMB,and/or
Genatlas, Animal models from MGI Dec 24 2010,
shRNA from
OriGene,
Sigma-Aldrich,
RNAi from
Millipore,
siRNAs from
Sigma-Aldrich,
OriGene,
Qiagen,
Super-pooled esiRNAs from Sigma-Aldrich,
microRNA from Sigma-Aldrich,
Qiagen,
SABiosciences,
Clones from Millipore,
Sigma-Aldrich,
OriGene,
GenScript,
Sino Biological,
Cell Lines from GenScript,
Ontologies according to Gene Ontology Consortium 01 Dec 2010 via
Entrez Gene.)
About This Section
|
UniProtKB/Swiss-Prot: APBA1_HUMAN, Q02410Function: Putative function in synaptic vesicle exocytosis by binding to Munc18-1, an essential component of thesynaptic vesicle exocytotic machinery. May modulate processing of the beta-amyloid precursor protein (APP) and henceformation of beta-APP
3 Gene Ontology (GO) molecular function terms (GO ID links to tree view): About this table
APBA1 for ontologies About GeneDecksing
Animal Models: 5 MGI mutant phenotypes (inferred from 3 alleles ) (MGI details for Apba1):
APBA1 for phenotypes About GeneDecksing
|
Pathways & Interactions
for APBA1 gene
(Pathways according to
Millipore,
Cell Signaling Technology,
Sigma-Aldrich,
KEGG
and/or UniProtKB,
Sets of similar genes according to GeneDecks,
PCR Arrays from
SABiosciences,
Proteins Network according to
SABiosciences,
Sigma-Aldrich,
Interactions according to 1UniProtKB,
2MINT, and/or
3STRING,
with links to IntAct and
Ensembl,
Ontologies according to Gene Ontology Consortium 01 Dec 2010 via
Entrez Gene).
About This Section
|
APBA1 for pathways About GeneDecksing
1  Millipore Pathway for APBA1
SABiosciences Pathway-Focused PCR Array including APBA1: PAHS-057A
SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for APBA1
5/7 Interacting proteins for APBA1 (Q024101, 2 ENSP000002653813) via UniProtKB, MINT, and/or STRING (see all 7)About this table
5/12 Gene Ontology (GO) biological process terms (GO ID links to tree view) (see all 12): About this table
APBA1 for ontologies About GeneDecksing
|
Drugs & Compounds
for APBA1 gene(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
|
APBA1 for compounds About GeneDecksing
 Browse Tocris compounds for APBA1
1  Novoseek chemical compound relationship for APBA1 gene
About this table
|
Transcripts
for APBA1 gene(GenBank/EMBL/DDBJ Accessions according to
Unigene
(Build 228 Homo sapiens; Dec 8 2010) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or
AceView,
transcript ids from Ensembl
with links to UCSC,
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
Millipore,
siRNAs from
Sigma-Aldrich,
OriGene,
Qiagen,
Super-pooled esiRNAs from Sigma-Aldrich,
shRNA from
Sigma-Aldrich,
OriGene,
microRNA from Sigma-Aldrich,
Qiagen,
SABiosciences,
Tagged/untagged cDNA clones from
OriGene,
Sigma-Aldrich,
GenScript,
Primers from
OriGene and/or
SABiosciences)
About This Section
|
REFSEQ mRNAs for APBA1 gene: NM_001163.3 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): AI289020 AI075072 BX507808 BQ269294 BF435835 NM_001163 BQ285938 BF056458 AI989967 AF047347 AA860795 BM510765 T28886 AF029106 BV204962 BM689397 L04953 BM857518 BE645317 BE463483 BM857742 BM511013 AW235364 AA729989
 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
2 Ensembl transcripts including schematic representations, and UCSC links where relevant: ENST00000470082 ENST00000265381(uc004ahh.2)
|
Expression
for APBA1 gene
(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 228 Homo sapiens),
SAGE tags according to
CGAP,
plus additional links to
SOURCE, and/or
GNF
BioGPS, and/or
EXPOLDB, and/or
UniProtKB,
Primers from
OriGene and/or
SABiosciences
)
About This Section
| APBA1 expression in normal and diseased human tissues
1 / 2 / 3 6 probe-sets matching APBA1 gene
Affymetrix
probe-set |
Array |
GeneAnnot data |
GeneNote data |
GeneTide data |
| # genes |
Sensitivity |
Specificity |
Correlation |
Length |
Gb_Accession |
Consensus |
Uniqueness |
Score |
Rank |
| 36698_at2, 3
|
U95-A |
1 |
1.00 |
1.00 |
0.42 |
0.57 |
AF047347 |
1.00 |
1.00 |
1.00 |
1 |
| 58428_at2
|
U95-B |
1 |
0.44 |
1.00 |
0.89 |
1.48 |
-- |
-- |
-- |
-- |
-- |
| 206679_at2, 3
|
U133-A |
1 |
0.91 |
1.00 |
-- |
-- |
NM_001163 |
0.60 |
1.00 |
0.82 |
1 |
| 228101_at2
|
U133-B |
1 |
0.36 |
1.00 |
-- |
-- |
-- |
-- |
-- |
-- |
-- |
| 206679_at2
|
U133Plus2 |
1 |
0.91 |
1.00 |
-- |
-- |
-- |
-- |
-- |
-- |
-- |
| 228101_at2
|
U133Plus2 |
1 |
0.36 |
1.00 |
-- |
-- |
-- |
-- |
-- |
-- |
-- |
About this table
APBA1 for expression About GeneDecksing
Data from
Genenote
(Publications) and GNF BioGPS
About these images
About these images
CGAP SAGE TAG: TGTCTCCTTC
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
SABiosciences Expression via Pathway-Focused PCR Array including APBA1: PAHS-057A
|
Orthologs
for APBA1 gene
(Orthologs according to
1,2HomoloGene (2older version, for species not in 1newer version),
3euGenes,
4SGD
and/or
5MGI Dec 24 2010,
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 (if available) |
Paralogs
for APBA1 gene(Paralogs according to 1HomoloGene
and 2Ensembl, Pseudogenes according to 3Pseudogene.org)
About This Section
| Paralogs for APBA1 gene
- APBA22 APBA32
APBA1 for paralogs About GeneDecksing
|
Genomic Variants
for APBA1 gene(SNPs according to the
1NCBI SNP Database,
2Ensembl,
3PupaSUITE, and
UniProtKB,
Linkage Disequilibrium by HapMap,
Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Resequencing Primers from Qiagen)
About This Section
|
| Genomic Data | Transcription Related Data | Allele Frequencies | | SNP ID | Valid | Chr 9 pos | Sequence | Recs | AA
Chg | Type | More | Recs | Allele
freq | Pop | Total
sample | More |
|---|
About this tableHapMap Linkage Disequilibrium images for APBA1 (up to first 250kb)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV): 26 variations for APBA1
15/26 CNVs (see all 26): 52848 30331 29801 96102 70721 83052 37778 1827 52850 36962 59536 83053 52847 53726 2822 | | QIAGEN SeqTarget long-range PCR primers for resequencing APBA1 |
|
Disorders & Mutations
for APBA1 gene
(in which this Gene is Involved, According to
OMIM, UniProtKB,
Novoseek, PharmGKB,
Genatlas, GeneTests,
Blood group antigen gene mutations by BGMUT,
LSDB, HGMD, GAD,
HuGE Navigator,
and/or TGDB.)
About This Section
|
APBA1 for disorders About GeneDecksing
OMIM: 602414
2 Novoseek disease relationships for APBA1 gene
About this table
Human Genome Epidemiology (HuGE) Navigator: APBA1 (2 documents)
Export disorders and mutations for APBA1 gene to outside databases
|
Medical News
for APBA1 gene(Possibly Related Articles in
Doctor's Guide)
About This Section
| -- |
Publications
for APBA1 gene (in
PubMed.
Associations of this gene to articles via
1Entrez Gene,
2UniProtKB/Swiss-Prot,
3HGNC,
4GAD,
5PharmGKB,
6UniProtKB/TrEMBL, and/or
7Novoseek)
About This Section
|
10/54 PubMed articles for APBA1 gene, integrated from 7 sources (see all 54):
(articles sorted by number of sources associating them with APBA1)- Gene in the region of the Friedreich ataxia locus encodes a putative transmembrane protein expressed in the nervous system. (PubMed id 7678331)1, 2, 3 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, 2, 7 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, 2, 7 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, 2, 7 Zhang Z.... Kuriyan J. (1997)
- DNA sequence and analysis of human chromosome 9. (PubMed id 15164053)1, 2 Humphray S.J.... Dunham I. (2004)
- Mints, Munc18-interacting proteins in synaptic vesicle exocytosis. (PubMed id 9395480)1, 2 Okamoto M. and Suedhof T.C. (1997)
- Comparison of primary structure of a neuron-specific protein, X11, between human and mouse. (PubMed id 7719031)1, 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, 7 Mueller H.T....Turner R.S. (2000)
- X11alpha impairs gamma- but not beta-cleavage of amyloid precursor protein. (PubMed id 14756819)1, 7 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, 7 Xie Z....Tanzi R.E. (2005)
|
External Searches for APBA1 gene
(in PubMed,
OMIM, and NCBI Bookshelf)
About This Section
|
|
Genome Databases showing APBA1 gene
(According to
Entrez Gene,
HGNC,
AceView,
euGenes,
Ensembl,
miRBase,
ECgene,
Kegg,
and/or
H-InvDB)
About This Section
|
|
Other Databases showing APBA1 gene
(According to HUGE)
About This Section
| -- |
Specialized Databases showing APBA1 gene(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
| Patent Information for APBA1 gene:
Search GeneIP for patents involving APBA1
GeneCards and IP:
Japan Patent Office Licenses GeneCards European Patent Office Licenses GeneCards Improving the IP Search
|
Products
for APBA1 gene(Antibodies, recombinant proteins, and assays by Millipore, Sigma-Aldrich, R&D Systems, Qiagen, GenScript, Cell Signaling Technology, SABiosciences, Novus Biologicals, Epitomics, ProSpec, Uscn,
Clones available from Millipore, Sigma-Aldrich, OriGene, GenScript, Sino Biological, PCR Arrays from SABiosciences, Drugs and/or compounds by Sigma-Aldrich, Tocris Bioscience, and/or
Enzo Life Sciences)
About This Section
|
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| |  | Search Tocris compounds for APBA1 |
| |  |  |  |  | | | | |
 | | | ELISAs and CLIAs for APBA1 |
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