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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

AAGAB Gene

protein-coding   GIFtS: 52
GCID: GC15M067493

Alpha- And Gamma-Adaptin Binding Protein

  See related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
About This Section

Aliases
Alpha- And Gamma-Adaptin Binding Protein1 2
KPPP12
PPKP12
PPKP1A2
Alpha- And Gamma-Adaptin-Binding Protein P342
p342

External Ids:    HGNC: 256621   Entrez Gene: 797192   Ensembl: ENSG000001035917   OMIM: 6148885   UniProtKB: Q6PD743   

Export aliases for AAGAB gene to outside databases

Previous GC identifers: GC15M065282 GC15M044327


(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 Gene:
The protein encoded by this gene interacts with the gamma-adaptin and alpha-adaptin subunits of complexes involved
in clathrin-coated vesicle trafficking. Mutations in this gene are associated with type I punctate palmoplantar
keratoderma. Alternatively spliced transcript variants have been found for this gene. (provided by RefSeq, Dec
2012)

GeneCards Summary for AAGAB Gene: 
AAGAB (alpha- and gamma-adaptin binding protein) is a protein-coding gene. Diseases associated with AAGAB include keratoderma, and palmoplantar keratosis.

UniProtKB/Swiss-Prot: AAGAB_HUMAN, Q6PD74
Function: May be involved in endocytic recycling of growth factor receptors such as EGFR

Gene Wiki entry for AAGAB (FLJ11506) 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 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000015.9  NT_010194.17  NC_018926.2  
Regulatory elements:
   Search SABiosciences Regulatory transcription factor binding sites for AAGAB
         Other transcription factors

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   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-q23

AAGAB Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
AAGAB gene location

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:
67,547,533 bp from pter
Size:
54,168 bases      Orientation:
minus strand

(According to UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB 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 Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
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 Q9HAK0

Explore the universe of human proteins at neXtProt for AAGAB: NX_Q6PD74

Explore proteomics data for AAGAB at MOPED 

Post-translational modifications:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q6PD74

  • AAGAB Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    AAGAB Protein Expression
    REFSEQ proteins (3 alternative transcripts): 
    NP_001258814.1  NP_001258815.1  NP_078942.3  

    ENSEMBL proteins: 
     ENSP00000261880   ENSP00000453263   ENSP00000440735   ENSP00000453059  

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    Gene Ontology (GO): 2 cellular component terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005737cytoplasm IDA--
    GO:0005829cytosol IEA--

    AAGAB for ontologies           About GeneDecksing



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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    1 InterPro protein domain:
     IPR019341 Alpha/Gamma-adaptin-bd_p34

    Graphical View of Domain Structure for InterPro Entry Q6PD74

    ProtoNet protein and cluster: Q6PD74


    AAGAB for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, 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, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

    Molecular Function:

         UniProtKB/Swiss-Prot Summary: AAGAB_HUMAN, Q6PD74
    Function: May be involved in endocytic recycling of growth factor receptors such as EGFR

    Phenotypes:
         1 GenomeRNAi human phenotype for AAGAB:

     Decreased cell number 

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    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, 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 Oct 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)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    EIF3CQ996132, 3, ENSP000003326044MINT-64673 I2D: score=5 STRING: ENSP00000332604
    UNC119Q134322, 3MINT-64672 I2D: score=4 
    AP2A2O949733I2D: score=1 
    ATF7IPENSP000002611684STRING: ENSP00000261168
    EIF3CLENSP000003702584STRING: ENSP00000370258
    About this table

    Gene Ontology (GO): 1 biological process term (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0015031protein transport IEA--

    AAGAB for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section
    Browse Small Molecules at EMD Millipore
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    Browse Tocris compounds for AAGAB

    Search CenterWatch for drugs/clinical trials and news about AAGAB

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    Conferences by KenesGroup, 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, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Sirion Biotech, 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_001271886
    7 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000261880(uc002aqk.4 uc010uju.2) ENST00000538028 ENST00000561452
    ENST00000542650 ENST00000558725 ENST00000560362 ENST00000561229
    miRNA
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    hsa-miR-34c-5p hsa-miR-548am hsa-miR-449b hsa-miR-551b* hsa-miR-449a hsa-miR-34a hsa-miR-548x hsa-miR-3119
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    Additional mRNA 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):

    BF062455 BQ877979 AI478428 AI758798 BM466314 BP357531 CA430118 BF001414 
    AI825596 N89887 CD672099 BC058886 BQ214285 CR614587 BU608106 AA551994 
    CR620129 AI910479 BI834717 AA857846 BE882300 BC047026 BX378148 W73913 

    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
    SP1:              -     -     -                                                                     
    SP2:                    -     -                                                                     
    SP3:                                                                                                
    SP4:                          -                                                                     
    SP5:                          -                                                                     


    ECgene alternative splicing isoforms for AAGAB

    (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 <intensity>2/3
    CGAP TAG: AAGAAATTCT
    AAGAB Expression
    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, Q6PD74
    Tissue specificity: Widely expressed, including in skin and keratinocytes, with highest levels in adrenal gland,
    rectum and thymus

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    (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 chordates.

    Orthologs for AAGAB gene from 5/13 species (see all 13)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Aagab1 , 5 alpha- and gamma-adaptin binding protein1, 5 84.23(n)1
    85.71(a)1
      9 (34.19 cM)5
    669391  NM_025857.21  NP_080133.11 
     636026555 
    chicken
    (Gallus gallus)
    Aves AAGAB6
    Uncharacterized protein
    74(a)
    1 ↔ 1
    10(18351819-18367839)
    lizard
    (Anolis carolinensis)
    Reptilia AAGAB6
    alpha- and gamma-adaptin binding protein
    64(a)
    1 ↔ 1
    GL343467.1(341515-356810)
    African clawed frog
    (Xenopus laevis)
    Amphibia Xl.105812 Xenopus laevis transcribed sequence with weak similarity more 74.41(n)    48055118 
    zebrafish
    (Danio rerio)
    Actinopterygii aagab1 alpha- and gamma-adaptin binding protein 62.2(n)
    59.48(a)
      436696  NM_001002423.1  NP_001002423.1 


    ENSEMBL Gene Tree for AAGAB (if available)
    TreeFam Gene Tree for AAGAB (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for AAGAB gene
    2 SIMAP similar genes for AAGAB using alignment to 3 protein entries:     AAGAB_HUMAN (see all proteins):
    DKFZp667D2317    DKFZp686G08119

    AAGAB for paralogs           About GeneDecksing



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, 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

    10/1081 SNPs in AAGAB are shown (see all 1081)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 15 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs114116311,2
    C--44332599(+) AAAAA-/ACTTGC 3 -- int11Minor allele frequency- A:0.50CSA 2
    rs1116563791,2
    C--44334566(+) TTTTTC/TTTCTT 3 -- int10--------
    rs121017931,2
    C--44369055(+) gaaccC/G/Tgggaa 3 -- int10--------
    rs1932681481,2
    --47548729(+) CATACG/TCTGGC 3 -- ds50010--------
    rs1382097021,2
    C--47548794(+) TATTAC/TATAAC 3 -- ds50010--------
    rs71726451,2
    C,F--47548909(+) CATACT/CTTACA 3 -- ds500112Minor allele frequency- C:0.33NA WA CSA EA 510
    rs121482821,2
    C,H--47548959(+) CCAAAC/TACTAT 3 -- ds50014Minor allele frequency- T:0.02EA NS NA 384
    rs1417678521,2
    --47548981(+) CAAGAA/GATGTT 3 -- ds50010--------
    rs1847528911,2
    --47549055(+) ACTTGC/TGGTAG 3 -- ut310--------
    rs1890830551,2
    --47549100(+) ATTACC/TGTAGT 3 -- ut310--------

    HapMap Linkage Disequilibrium report for AAGAB (67493366 - 67547533 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 6 variations for AAGAB:    About this table     
    Variant IDTypeSubtypePubMed ID
    esv3519CNV Deletion18987735
    esv2749800CNV Deletion23290073
    esv999184CNV Deletion20482838
    nsv827371CNV Loss20364138
    nsv819309CNV Loss19587683
    esv8158CNV Loss19470904


    Human Gene Mutation Database (HGMD): AAGAB
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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    OMIM gene information: 614888    OMIM disorders: --

    UniProtKB/Swiss-Prot: AAGAB_HUMAN, Q6PD74
  • Keratoderma, palmoplantar, punctate 1A (PPKP1A) [MIM:148600]: An autosomal dominant dermatological
    disorder characterized by multiple hyperkeratotic, centrally indented, papules that develop in early adolescence,
    or later, and are irregularly distributed on the palms and soles (other palmoplantar keratoses have mostly
    diffuse hyperkeratinization). In mechanically irritated areas, confluent plaques can be found. Interfamilial and
    intrafamilial severity shows broad variation. In some cases, PPKP1 is associated with the development of early-
    and late-onset malignancies, including squamous cell carcinoma. Note=The disease is caused by mutations affecting
    the gene represented in this entry

  • 4 diseases for AAGAB:    About MalaCards
    keratoderma    palmoplantar keratosis    keratosis    squamous cell carcinoma

    1 disease from the University of Copenhagen DISEASES database for AAGAB:
    Palmoplantar keratosis

    AAGAB for disorders           About GeneDecksing

    Genetic Association Database (GAD): AAGAB
    Human Genome Epidemiology (HuGE) Navigator: AAGAB (1 document)

    Export disorders for AAGAB gene to outside databases

    (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

    1. 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)
    2. Nonsense mutations in AAGAB cause punctate palmoplantar keratoderma type Buschke-Fischer-Brauer. (PubMed id 23000146)1, 2 Giehl K.A.... Strom T.M. (2012)
    3. Haploinsufficiency for AAGAB causes clinically heterogeneous forms of punctate palmoplantar keratoderma. (PubMed id 23064416)1, 2 Pohler E.... McLean W.H. (2012)
    4. Polymorphisms in predicted miRNA binding sites and os teoporosis. (PubMed id 20641033)1, 4 Lei S.F....Deng H.W. (2011)
    5. 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)
    6. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (2004)
    7. Gamma-synergin: an EH domain-containing protein that interacts with gamma-adaptin. (PubMed id 10477754)1, 3 Page L.J.... Robinson M.S. (1999)
    8. 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)
    9. 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)
    10. Mass spectrometric analysis of lysine ubiquitylation r eveals promiscuity at site level. (PubMed id 21139048)1 Danielsen J.M....Nielsen M.L. (2011)

    (in PubMed, OMIM, and NCBI Bookshelf)
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    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 79719 HGNC: 25662 AceView: FLJ11506 Ensembl:ENSG00000103591 euGenes: HUgn79719
    ECgene: AAGAB H-InvDB: AAGAB

    (According to HUGE)
    About This Section
      --

    (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
    NameDescription
    PharmGKB entry for AAGAB Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for AAGAB gene:
    Search GeneIP for patents involving AAGAB

    GeneCards and IP:
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