AAGAB Gene
protein-coding GIFtS: 51
GCID: GC15M067493
|
|
alpha- and gamma-adaptin binding protein
| |
Aliases
for AAGAB gene
(According to
1HGNC,
2Entrez Gene,
3UniProtKB/Swiss-Prot,
4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc,
7Ensembl,
8DME,
9miRBase,
and/or 10fRNAdb)
About This Section
|
| Aliases |
|---|
| Alpha- And Gamma-Adaptin Binding Protein1 2 | | PPKP12 | | P341 | | PPKP1A2 | | FLJ115061 | | Alpha- And Gamma-Adaptin-Binding Protein P342 | | KPPP12 | | |
Export aliases for AAGAB gene to outside databasesPrevious GC identifers: GC15M065282 GC15M044327 |
Summaries
for AAGAB gene(According to Entrez Gene,
Tocris Bioscience,
Wikipedia's
Gene Wiki,
PharmGKB,
UniProtKB/Swiss-Prot,
and/or
UniProtKB/TrEMBL)
About This Section
|
Entrez Gene summary for AAGAB:
The protein encoded by this gene interacts with the gamma-adaptin and alpha-adaptin subunits of complexes involved inclathrin-coated vesicle trafficking. Mutations in this gene are associated with type I punctate palmoplantarkeratoderma. Alternatively spliced transcript variants have been found for this gene. (provided by RefSeq, Dec 2012)
UniProtKB/Swiss-Prot: AAGAB_HUMAN, Q6PD74Function: May be involved in endocytic recycling of growth factor receptors such as EGFR
Gene Wiki entry for AAGAB (FLJ11506)
|
Genomic Views
for AAGAB 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 69),
Regulatory elements and Epigenetics data according to
QIAGEN,
SABiosciences, and/or
SwitchGear Genomics)
About This Section
| RefSeq DNA sequence:- NC_000015.9 NC_018926.1 NT_010194.17
Regulatory elements:
 Search SABiosciences Regulatory transcription factor binding sites for AAGAB
Other transcription factors
Search SABiosciences Chromatin IP Primers for AAGAB
Epigenetics:
| | QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat AAGAB |
Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track
Entrez Gene cytogenetic band: 15q22.33-q23 Ensembl cytogenetic band: 15q23 HGNC cytogenetic band: 15q22.33-q23AAGAB Gene in genomic location: bands according to Ensembl, locations according to
 (and/or Entrez Gene and/or Ensembl if different)
GeneLoc information about chromosome 15 GeneLoc Exon Structure GeneLoc location for GC15M067493: view genomic region
(about GC identifiers)
Start:
|
67,493,366 bp from pter |
End:
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67,547,533 bp from pter |
Size:
|
54,168 bases |
Orientation:
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minus strand |
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Proteins
for AAGAB gene
(According to
1UniProtKB,
HORDE,
neXtProt,
Ensembl,
and/or Reactome,
Modification sites according to 2PhosphoSitePlus,
Specific Peptides from DME,
Protein expression images according to data from SPIRE MOPED and PaxDb,
RefSeq according to NCBI,
PDB rendering according to OCA and/or Proteopedia,
Recombinant Proteins
from
EMD Millipore,
R&D Systems,
GenScript,
Enzo Life Sciences,
OriGene,
Novus Biologicals,
Sino Biological,
ProSpec, and/or
Uscn,
Biochemical Assays by
EMD Millipore,
R&D Systems,
OriGene,
GenScript,
Cell Signaling Technology,
Enzo Life Sciences, and/or
Uscn,
Ontologies according to Gene
Ontology Consortium 01 Mar 2013 and
Entrez Gene,
Antibodies by
EMD Millipore,
R&D Systems,
GenScript,
Cell Signaling Technology,
OriGene,
Novus Biologicals,
Thermo Fisher Scientific,
Abcam, and/or
Uscn)
About This Section
|
UniProtKB/Swiss-Prot: AAGAB_HUMAN, Q6PD74 (See
protein sequence)Recommended Name: Alpha- and gamma-adaptin-binding protein p34 Size: 315 amino acids; 34594 Da
Subunit: Associated with AP-1 and AP-2 complexes
Subcellular location: Cytoplasm, cytosol
Secondary accessions: Q6FI86 Q7Z5X9 Q9H0P1 Q9HAK0Explore the universe of human proteins at neXtProt for AAGAB: NX_Q6PD74
Post-translational modifications:
View modification sites using PhosphoSitePlus2View neXtProt modification sites for NX_Q6PD74
AAGAB Protein expression data from MOPED and PaxDb: About this image 
REFSEQ proteins (3 alternative transcripts):
NP_001258814.1 NP_001258815.1 NP_078942.3
ENSEMBL proteins: ENSP00000261880 ENSP00000453263 ENSP00000440735 ENSP00000453059
Human Recombinant Protein Products for AAGAB:
Gene Ontology (GO): 2 cellular component terms (GO ID links to tree view): About this table
AAGAB for ontologies About GeneDecksing
AAGAB Antibody Products:
Assay Products for AAGAB: |
Protein
Domains /
Families
for AAGAB gene(According to InterPro, ProtoNet,
UniProtKB, and/or BLOCKS,
Sets of similar genes according to GeneDecks)
About This Section
|
AAGAB for domains About GeneDecksing
1 InterPro domain/family:Graphical View of Domain Structure for InterPro Entry Q6PD74ProtoNet protein and cluster: Q6PD74 |
Function
for AAGAB gene
(According to 1UniProtKB,
Genatlas,
LifeMap Discovery™,
IUBMB, and/or
2DME,
Human phenotypes from GenomeRNAi,
Animal models from MGI Mar 06 2013,
inGenious Targeting Laboratory,
bound targets from SABiosciences,
miRNA Gene Targets from miRTarBase,
shRNA from
OriGene,
Sirion Biotech,
RNAi from
EMD Millipore,
siRNAs from
OriGene,
QIAGEN,
microRNA from QIAGEN,
Gene Editing from DNA2.0,
Sirion Biotech,
Clones from EMD Millipore,
OriGene,
SwitchGear Genomics,
GenScript,
Sino Biological,
DNA2.0,
and Vector BioLabs,
Cell Lines from GenScript,
LifeMap BioReagents,
Sirion Biotech,
In Situ Hybridization Assays from Advanced Cell Diagnostics,
Ontologies according to Gene Ontology Consortium 01 Mar 2013 via
Entrez Gene.)
About This Section
|
Molecular Function:
UniProtKB/Swiss-Prot Summary: AAGAB_HUMAN, Q6PD74Function: May be involved in endocytic recycling of growth factor receptors such as EGFRPhenotypes:
1 GenomeRNAi human phenotype for AAGAB:
Animal Models:
Clone
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OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for AAGAB
OriGene custom cloning services - gene synthesis, subcloning, mutagenesis,
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In Situ Assay
Products: |
 | Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for AAGAB |
|
Pathways & Interactions
for AAGAB gene
(Pathways according to
EMD Millipore,
R&D Systems,
Cell Signaling Technology,
KEGG,
PharmGKB,
BioSystems,
Reactome,
Tocris Bioscience,
GeneGo (Thomson Reuters),
QIAGEN,
and/or UniProtKB,
Sets of similar genes according to GeneDecks,
Interaction Networks according to
SABiosciences,
and/or STRING,
Interactions according to 1UniProtKB,
2MINT,
3I2D, and/or
4STRING,
with links to IntAct and
Ensembl,
Ontologies according to Gene Ontology Consortium 01 Mar 2013 via
Entrez Gene).
About This Section
|
Interactions:
Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for AAGAB
STRING Interaction
Network Preview (showing 4 interactants - click image to see more details)
5/6 Interacting proteins for AAGAB (Q6PD742, 3 ENSP000002618804) via UniProtKB, MINT, STRING, and/or I2D (see all 6)About this table
Gene Ontology (GO): 1 biological process term (GO ID links to tree view): About this table | GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|
| GO:0015031 | protein transport |
IEA | -- |
AAGAB for ontologies About GeneDecksing
|
Drugs & Compounds
for AAGAB gene(Chemical Compounds according to UniProtKB, Enzo Life Sciences,
EMD Millipore, Tocris Bioscience
HMDB,
BitterDB, and/or
Novoseek, and Drugs according to
DrugBank,
Enzo Life Sciences, and/or
PharmGKB, with drugs/clinical trials/news
search links to CenterWatch)
About This Section
|
 Browse Tocris compounds for AAGAB
Search CenterWatch for drugs/clinical trials and news about AAGAB
|
Transcripts
for AAGAB gene(Secondary structures according to
fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene
(Build 235 Homo sapiens; Mar 10 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or
AceView,
transcript ids from Ensembl
with links to UCSC,
exon structure from GeneLoc,
alternative splicing isoforms according to ASD and/or
ECgene,
RNAi Products from
EMD Millipore,
siRNAs from
OriGene,
QIAGEN,
shRNA from
OriGene,
Sirion Biotech,
microRNA from QIAGEN,
Tagged/untagged cDNA clones from
OriGene,
SwitchGear Genomics,
GenScript,
DNA2.0,
Vector BioLabs,
Primers from
OriGene,
SABiosciences, and/or
QIAGEN
)
About This Section
|
REFSEQ mRNAs for AAGAB gene (3 alternative transcripts): NM_001271885.1 NM_001271886.1 NM_024666.4 Unigene Cluster for AAGAB: Alpha- and gamma-adaptin binding protein Hs.254642 [show with all ESTs]Unigene Representative Sequence: NM_0012718867 Ensembl transcripts including schematic representations, and UCSC links where relevant: ENST00000261880(uc002aqk.4 uc010uju.2) ENST00000538028 ENST00000561452
ENST00000542650 ENST00000558725 ENST00000560362 ENST00000561229
Clone
Products: | | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for AAGAB (see all 3)
OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for AAGAB
OriGene custom cloning services - gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling
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Additional cDNA sequence: AK021568.1 AK294402.1 AL136715.1 AL832256.1 BC001975.1 BC035852.1 BC047026.1 BC058886.1 CR533540.1 9 DOTS entries: DT.92050314 DT.114988 DT.100811320 DT.40212182 DT.121065308 DT.100811321 DT.100036122 DT.121065200 DT.121065287 24/234 AceView cDNA sequences (see all 234): AI825596 BC058886 W73913 BF062455 N89887 BM466314 CA430118 AI478428 BQ214285 BX378148 CD672099 BQ188160 BF334075 BM564924 W73912 BU158695 AL040453 BF001414 BQ428435 CA312633 BQ425900 AI828332 BP357531 BQ877979
GeneLoc Exon Structure
5 Alternative Splicing Database (ASD) splice patterns (SP) for AAGAB About this scheme
| ExUns: | 1a | · | 1b | · | 1c | ^ | 2 | ^ | 3 | ^ | 4a | · | 4b | ^ | 5 | ^ | 6 | ^ | 7a | · | 7b | ^ | 8 | ^ | 9 | ^ | 10 | ^ | 11 | ^ | 12 |
|---|
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| SP1: | | | | | - | | - | | - | | | | | | | | | | | | | | | | | | | | | | | | |
| SP2: | | | | | | | - | | - | | | | | | | | | | | | | | | | | | | | | | | | |
| SP3: | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | |
| SP4: | | | | | | | | | - | | | | | | | | | | | | | | | | | | | | | | | | |
| SP5: | | | | | | | | | - | | | | | | | | | | | | | | | | | | | | | | | |
ECgene alternative splicing isoforms for AAGAB
|
Expression
for AAGAB gene
(RNA expression data according to
H-InvDB,
NONCODE,
miRBase, and
RNAdb,
Expression images according to data from
BioGPS,
Illumina Human BodyMap, and
CGAP
SAGE,
Sets of similar genes according to GeneDecks,
in vivo and in vitro expression data from LifeMap Discovery™,
plus additional links to
Genevestigator, and/or
SOURCE, and/or
BioGPS, and/or
UniProtKB,
PCR Arrays from
SABiosciences,
Primers from
OriGene,
SABiosciences, and/or
QIAGEN,
In Situ Hybridization Assays from Advanced Cell Diagnostics)
About This Section
| AAGAB expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: AAGAAATTCT
About this image
See AAGAB Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for AAGAB
SOURCE GeneReport for Unigene cluster: Hs.254642
UniProtKB/Swiss-Prot: AAGAB_HUMAN, Q6PD74Tissue specificity: Widely expressed, including in skin and keratinocytes, with highest levels in adrenal gland, rectumand thymus
SABiosciences Custom PCR Arrays for AAGAB
Primer
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Browse OriGene validated miRNA SYBR primer pairs
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Assay Products: |
| Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for AAGAB |
Orthologs
for AAGAB gene
(Orthologs according to
1,2HomoloGene (2older version, for species not in 1newer version),
3euGenes,
4SGD
,
5MGI Mar 06 2013,
with possible further links to
Flybase
and/or
WormBase,
and/or
6Ensembl pan taxonomic compara ,
Gene Trees according to Ensembl and
TreeFam)
About This Section
|
This gene was present in the common ancestor of animals.
Orthologs for AAGAB gene from 6/18 species (see all 18) About this table
ENSEMBL Gene Tree for AAGAB (if available)
TreeFam Gene Tree for AAGAB (if available) |
Paralogs
for AAGAB gene(Paralogs according to
1HomoloGene,
2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
About This Section
| -- |
Genomic Variants
for AAGAB gene(SNPs/Variants according to the
1NCBI SNP Database,
2Ensembl,
3PupaSUITE,
UniProtKB, and
DNA2.0,
Linkage Disequilibrium by HapMap,
Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene
Mutation Database (HGMD) and the Locus Specific Mutation
Databases (LSDB), Blood group antigen gene mutations by BGMUT,
Resequencing Primers from QIAGEN,
Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
About This Section
|
| Genomic Data | Transcription Related Data | Allele Frequencies | | SNP ID | Valid | Clinical
significance | Chr 15 pos | Sequence | # | AA
Chg | Type | More | # | Allele
freq | Pop | Total
sample | More |
|---|
HapMap Linkage Disequilibrium report for AAGAB (67493366 - 67547533 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV): 3 variations for AAGAB
3 Indels: 42519 61454 58733
Human Gene Mutation Database (HGMD): AAGAB
| SABiosciences Cancer Mutation PCR Assays |
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|
Disorders
/ Diseases
for AAGAB gene
(in which this Gene is Involved, According to MalaCards,
OMIM, UniProtKB,
the University of Copenhagen DISEASES
database,
Genatlas, GeneTests,
GAD,
HuGE Navigator,
and/or TGDB.)
About This Section
|
 AAGAB for disorders About MalaCards
AAGAB for disorders About GeneDecksing
OMIM gene information: 614888
OMIM disorders: --
UniProtKB/Swiss-Prot: AAGAB_HUMAN, Q6PD74
Defects in AAGAB are the cause of keratoderma, palmoplantar, punctate 1A (PPKP1A) [MIM:148600]. An autosomaldominant dermatological disorder characterized by multiple hyperkeratotic, centrally indented, papules that develop inearly adolescence, or later, and are irregularly distributed on the palms and soles (other palmoplantar keratoses havemostly diffuse hyperkeratinization). In mechanically irritated areas, confluent plaques can be found. Interfamilialand intrafamilial severity shows broad variation. In some cases, PPKP1 is associated with the development of early-and late-onset malignancies, including squamous cell carcinoma
1 disease from the University of Copenhagen DISEASES database for AAGAB:Palmoplantar keratosis Human Genome Epidemiology (HuGE) Navigator: AAGAB (1 document)
Export disorders for AAGAB gene to outside databases
|
Publications
for AAGAB gene (in
PubMed.
Associations of this gene to articles via
1Entrez Gene,
2UniProtKB/Swiss-Prot,
3HGNC,
4GAD,
5PharmGKB,
6HMDB,
7DrugBank,
8UniProtKB/TrEMBL,
9 Novoseek, and/or
10fRNAdb)
About This Section
|
PubMed articles for AAGAB gene, integrated from 9 sources (see all 24):
(articles sorted by number of sources associating them with AAGAB) | |  | Utopia: connect your pdf to the dynamic
world of online information |
- Towards a catalog of human genes and proteins: sequencing and analysis of 500 novel complete protein coding human cDNAs. (PubMed id 11230166)1, 2, 3 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)1, 2 Gerhard D.S....Malek J. (2004)
- Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (2004)
- Gamma-synergin: an EH domain-containing protein that interacts with gamma-adaptin. (PubMed id 10477754)1, 3 Page L.J.... Robinson M.S. (1999)
- Methods for quantification of in vivo changes in prote in ubiquitination following proteasome and deubiquitinase inhibition. (PubMed id 22505724)1 Udeshi N.D....Carr S.A. (2012)
- Nonsense mutations in AAGAB cause punctate palmoplantar keratoderma type Buschke-Fischer-Brauer. (PubMed id 23000146)2 Giehl K.A.... Strom T.M. (2012)
- Haploinsufficiency for AAGAB causes clinically heterogeneous forms of punctate palmoplantar keratoderma. (PubMed id 23064416)2 Pohler E.... McLean W.H. (2012)
- Polymorphisms in predicted miRNA binding sites and os teoporosis. (PubMed id 20641033)1 Lei S.F....Deng H.W. (2011)
- System-wide temporal characterization of the proteome and phosphoproteome of human embryonic stem cell differentiation. (PubMed id 21406692)2 Rigbolt K.T....Blagoev B. (2011)
- Mass spectrometric analysis of lysine ubiquitylation r eveals promiscuity at site level. (PubMed id 21139048)1 Danielsen J.M....Nielsen M.L. (2011)
|
External Searches for AAGAB gene
(in PubMed,
OMIM, and NCBI Bookshelf)
About This Section
|
|
Genome Databases showing AAGAB gene
(According to
Entrez Gene,
HGNC,
AceView,
euGenes,
Ensembl,
miRBase,
ECgene,
Kegg,
and/or
H-InvDB)
About This Section
|
|
Other Databases showing AAGAB gene
(According to HUGE)
About This Section
| -- |
Specialized Databases showing AAGAB gene(According to PharmGKB,
ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
About This Section
|
| Name | Description |
| PharmGKB entry for AAGAB | Pharmacogenomics, SNPs, Pathways |
|
| | |
About This Section
| Patent Information for AAGAB gene:
Search GeneIP for patents involving AAGAB
GeneCards and IP:
Japan Patent Office Licenses GeneCards European Patent Office Licenses GeneCards Improving the IP Search
|
Products
for AAGAB gene(Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Uscn, Thermo Fisher Scientific, Gene Editing from DNA2.0 and Sirion Biotech, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript, LifeMap BioReagents, and Sirion Biotech, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or
Enzo Life Sciences, In Situ Hybridization Assays from
Advanced Cell Diagnostics, Animal models from inGenious Targeting Laboratory)
About This Section
|
 | |
 | |
 |
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