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Aliases for AAGAB Gene

Aliases for AAGAB Gene

  • Alpha And Gamma Adaptin Binding Protein 2 3 5
  • Alpha- And Gamma-Adaptin-Binding Protein P34 3
  • PPKP1A 3
  • KPPP1 3
  • PPKP1 3
  • P34 3

External Ids for AAGAB Gene

Previous GeneCards Identifiers for AAGAB Gene

  • GC15M065282
  • GC15M067493
  • GC15M044327

Summaries for AAGAB Gene

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, Palmoplantar, Punctate Type Ia and Punctate Palmoplantar Keratoderma.

UniProtKB/Swiss-Prot for AAGAB Gene

  • May be involved in endocytic recycling of growth factor receptors such as EGFR.

Gene Wiki entry for AAGAB Gene

Additional gene information for AAGAB Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for AAGAB Gene

Genomics for AAGAB Gene

Regulatory Elements for AAGAB Gene

Enhancers for AAGAB Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH15H067196 1.7 FANTOM5 Ensembl ENCODE dbSUPER 17.9 +56.3 56280 5.5 KLF17 ZNF2 ZNF366 FOS ZNF391 RUNX3 CREM REST ZEB2 ZNF843 IQCH AAGAB MAP2K5 SMAD3 PIR40233 RPS24P16
GH15H067129 2.1 FANTOM5 Ensembl ENCODE dbSUPER 11.1 +114.0 113977 23 HDGF PKNOX1 FOXA2 MLX ARID4B SIN3A FEZF1 DMAP1 ZNF2 YY1 SMAD3 SNORD16 AAGAB IQCH ENSG00000260773 PIR53240 PIR54457
GH15H067079 2.1 FANTOM5 Ensembl ENCODE dbSUPER 10.8 +167.8 167786 16.4 HDGF FOXA2 PKNOX1 ARNT SIN3A FEZF1 ZNF766 ZNF143 FOS JUNB ENSG00000260773 AAGAB IQCH SMAD3 GC15P068195 GC15P068910
GH15H067113 2 FANTOM5 Ensembl ENCODE dbSUPER 10.5 +133.7 133694 15.9 HDGF PKNOX1 FOXA2 MLX ARID4B SIN3A YY1 ZNF143 FOS DEK SMAD3 AAGAB IQCH DIS3L PIR54457 GC15P068910
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around AAGAB on UCSC Golden Path with GeneCards custom track

Promoters for AAGAB Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

Genomic Locations for AAGAB Gene

Genomic Locations for AAGAB Gene
54,524 bases
Minus strand

Genomic View for AAGAB Gene

Genes around AAGAB on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
AAGAB Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for AAGAB Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for AAGAB Gene

Proteins for AAGAB Gene

  • Protein details for AAGAB Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Recommended name:
    Alpha- and gamma-adaptin-binding protein p34
    Protein Accession:
    Secondary Accessions:
    • B4DG44
    • Q6FI86
    • Q7Z5X9
    • Q9H0P1
    • Q9HAK0

    Protein attributes for AAGAB Gene

    315 amino acids
    Molecular mass:
    34594 Da
    Quaternary structure:
    • Associated with AP-1 and AP-2 complexes.

    Alternative splice isoforms for AAGAB Gene


neXtProt entry for AAGAB Gene

Post-translational modifications for AAGAB Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for AAGAB Gene

No data available for DME Specific Peptides for AAGAB Gene

Domains & Families for AAGAB Gene

Gene Families for AAGAB Gene

Human Protein Atlas (HPA):
  • Disease related genes
  • Predicted intracellular proteins

Protein Domains for AAGAB Gene


Graphical View of Domain Structure for InterPro Entry

genes like me logo Genes that share domains with AAGAB: view

No data available for UniProtKB/Swiss-Prot for AAGAB Gene

Function for AAGAB Gene

Molecular function for AAGAB Gene

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

Phenotypes From GWAS Catalog for AAGAB Gene

Gene Ontology (GO) - Molecular Function for AAGAB Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 25416956
genes like me logo Genes that share ontologies with AAGAB: view

Phenotypes for AAGAB Gene

genes like me logo Genes that share phenotypes with AAGAB: view

Human Phenotype Ontology for AAGAB Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Clone Products

No data available for Enzyme Numbers (IUBMB) , Animal Models , Transcription Factor Targets and HOMER Transcription for AAGAB Gene

Localization for AAGAB Gene

Subcellular locations from UniProtKB/Swiss-Prot for AAGAB Gene

Cytoplasm, cytosol.

Subcellular locations from

Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for AAGAB gene
Compartment Confidence
nucleus 5
cytosol 5
extracellular 3
mitochondrion 1
endoplasmic reticulum 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytosol (3)
  • Nuclear speckles (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for AAGAB Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IDA --
GO:0005829 cytosol IDA,IEA --
GO:0016607 nuclear speck IDA --
genes like me logo Genes that share ontologies with AAGAB: view

Pathways & Interactions for AAGAB Gene

SuperPathways for AAGAB Gene

No Data Available

Gene Ontology (GO) - Biological Process for AAGAB Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006810 transport IEA --
GO:0015031 protein transport IEA --
genes like me logo Genes that share ontologies with AAGAB: view

No data available for Pathways by source and SIGNOR curated interactions for AAGAB Gene

Drugs & Compounds for AAGAB Gene

No Compound Related Data Available

Transcripts for AAGAB Gene

Unigene Clusters for AAGAB Gene

Alpha- and gamma-adaptin binding protein:
Representative Sequences:

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for AAGAB Gene

ExUns: 1a · 1b · 1c ^ 2 ^ 3 ^ 4a · 4b ^ 5 ^ 6 ^ 7a · 7b ^ 8 ^ 9 ^ 10 ^ 11 ^ 12
SP1: - - -
SP2: - -
SP4: -
SP5: -

Relevant External Links for AAGAB Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for AAGAB Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for AAGAB Gene

Protein differential expression in normal tissues from HIPED for AAGAB Gene

This gene is overexpressed in Bone (25.3), Pancreas (8.6), Lung (7.6), and Spleen (6.9).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for AAGAB Gene

NURSA nuclear receptor signaling pathways regulating expression of AAGAB Gene:


SOURCE GeneReport for Unigene cluster for AAGAB Gene:


mRNA Expression by UniProt/SwissProt for AAGAB Gene:

Tissue specificity: Widely expressed, including in skin and keratinocytes, with highest levels in adrenal gland, rectum and thymus.

Evidence on tissue expression from TISSUES for AAGAB Gene

  • Nervous system(4.8)
  • Skin(2.1)
  • Intestine(2)

Phenotype-based relationships between genes and organs from Gene ORGANizer for AAGAB Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
  • digestive
  • endocrine
  • immune
  • integumentary
  • urinary
  • breast
  • intestine
  • kidney
  • large intestine
  • pancreas
  • foot
  • hand
  • lower limb
  • nail
  • upper limb
  • blood
  • hair
  • skin
  • white blood cell
genes like me logo Genes that share expression patterns with AAGAB: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues and Protein tissue co-expression partners for AAGAB Gene

Orthologs for AAGAB Gene

This gene was present in the common ancestor of chordates.

Orthologs for AAGAB Gene

Organism Taxonomy Gene Similarity Type Details
(Pan troglodytes)
Mammalia AAGAB 33 34
  • 99.47 (n)
(Canis familiaris)
Mammalia AAGAB 33 34
  • 91.22 (n)
(Bos Taurus)
Mammalia MGC152585 34
  • 91 (a)
  • 89.31 (n)
(Mus musculus)
Mammalia Aagab 33 16 34
  • 84.23 (n)
(Rattus norvegicus)
Mammalia Aagab 33
  • 84.13 (n)
(Monodelphis domestica)
Mammalia AAGAB 34
  • 82 (a)
(Ornithorhynchus anatinus)
Mammalia AAGAB 34
  • 74 (a)
(Gallus gallus)
Aves AAGAB 33 34
  • 74.63 (n)
(Anolis carolinensis)
Reptilia AAGAB 34
  • 64 (a)
tropical clawed frog
(Silurana tropicalis)
Amphibia aagab 33
  • 66.89 (n)
Str.15200 33
African clawed frog
(Xenopus laevis)
Amphibia Xl.10581 33
(Danio rerio)
Actinopterygii aagab 33 34
  • 62.31 (n)
sea squirt
(Ciona savignyi)
Ascidiacea CSA.5714 34
  • 33 (a)
Species where no ortholog for AAGAB was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for AAGAB Gene

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

Paralogs for AAGAB Gene

(2) SIMAP similar genes for AAGAB Gene using alignment to 3 proteins:

genes like me logo Genes that share paralogs with AAGAB: view

No data available for Paralogs for AAGAB Gene

Variants for AAGAB Gene

Sequence variations from dbSNP and Humsavar for AAGAB Gene

SNP ID Clin Chr 15 pos Sequence Context AA Info Type
rs1057518846 Likely pathogenic 67,235,978(-) GGATG(G/T)TAAGT splice-donor-variant
rs1000043775 -- 67,250,614(+) TAAAG(C/T)AAAAC intron-variant
rs1000101542 -- 67,212,045(+) CGACT(A/G)ATTTT intron-variant
rs1000120668 -- 67,238,169(+) TATCA(C/T)GAAAT intron-variant
rs1000146072 -- 67,246,316(+) GAGCC(C/T)GGGAG intron-variant

Structural Variations from Database of Genomic Variants (DGV) for AAGAB Gene

Variant ID Type Subtype PubMed ID
nsv827371 CNV loss 20364138
nsv819309 CNV loss 19587683
nsv1071216 CNV deletion 25765185
nsv1049980 CNV loss 25217958
esv999184 CNV deletion 20482838
esv8158 CNV loss 19470904
esv3552597 CNV deletion 23714750
esv3519 CNV loss 18987735
esv3226012 CNV deletion 24192839
esv2749800 CNV deletion 23290073

Variation tolerance for AAGAB Gene

Residual Variation Intolerance Score: 51% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 11.48; 92.89% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for AAGAB Gene

Human Gene Mutation Database (HGMD)
SNPedia medical, phenotypic, and genealogical associations of SNPs for

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for AAGAB Gene

Disorders for AAGAB Gene

MalaCards: The human disease database

(2) MalaCards diseases for AAGAB Gene - From: HGMD, OMIM, ClinVar, GeneTests, Orphanet, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
keratoderma, palmoplantar, punctate type ia
  • punctate palmoplantar keratoderma type i
punctate palmoplantar keratoderma
  • punctate keratosis palmoplantaris
- elite association - COSMIC cancer census association via MalaCards
Search AAGAB in MalaCards View complete list of genes associated with diseases


  • 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. {ECO:0000269 PubMed:23000146, ECO:0000269 PubMed:23064416}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for AAGAB

Genetic Association Database (GAD)
Human Genome Epidemiology (HuGE) Navigator
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
genes like me logo Genes that share disorders with AAGAB: view

No data available for Genatlas for AAGAB Gene

Publications for AAGAB Gene

  1. Toward a catalog of human genes and proteins: sequencing and analysis of 500 novel complete protein coding human cDNAs. (PMID: 11230166) Wiemann S … Poustka A (Genome research 2001) 2 3 4 60
  2. Nonsense mutations in AAGAB cause punctate palmoplantar keratoderma type Buschke-Fischer-Brauer. (PMID: 23000146) Giehl KA … Strom TM (American journal of human genetics 2012) 3 4 60
  3. Haploinsufficiency for AAGAB causes clinically heterogeneous forms of punctate palmoplantar keratoderma. (PMID: 23064416) Pohler E … McLean WH (Nature genetics 2012) 3 4 60
  4. Polymorphisms in predicted miRNA binding sites and osteoporosis. (PMID: 20641033) Lei SF … Deng HW (Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research 2011) 3 45 60
  5. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 60

Products for AAGAB Gene

Sources for AAGAB Gene

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