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] See more...

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 4
  • 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 Palmoplantar Keratoderma, Punctate Type Ia and Punctate Palmoplantar Keratoderma.

UniProtKB/Swiss-Prot Summary 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 , Rfam classification and piRNA Summary for AAGAB Gene

Genomics for AAGAB Gene

GeneHancer (GH) Regulatory Elements for AAGAB Gene

Promoters and enhancers for AAGAB Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around AAGAB on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for AAGAB

Genomic Locations for AAGAB Gene

Genomic Locations for AAGAB Gene
chr15:67,200,667-67,255,198
(GRCh38/hg38)
Size:
54,532 bases
Orientation:
Minus strand
chr15:67,493,366-67,547,533
(GRCh37/hg19)
Size:
54,168 bases
Orientation:
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:
    Q6PD74-AAGAB_HUMAN
    Recommended name:
    Alpha- and gamma-adaptin-binding protein p34
    Protein Accession:
    Q6PD74
    Secondary Accessions:
    • B4DG44
    • Q6FI86
    • Q7Z5X9
    • Q9H0P1
    • Q9HAK0

    Protein attributes for AAGAB Gene

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

    Alternative splice isoforms for AAGAB Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for AAGAB Gene

Post-translational modifications for AAGAB Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

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

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for AAGAB Gene

GenScript: Design optimal peptide antigens:
  • Alpha- and gamma-adaptin-binding protein p34 (AAGAB_HUMAN)
  • cDNA FLJ57273, highly similar to Alpha- and gamma-adaptin-binding protein p34 (B4DG44_HUMAN)
genes like me logo Genes that share domains with AAGAB: view

No data available for Graphical View of Domain Structure and 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
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

Animal Model Products

CRISPR Products

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

COMPARTMENTS
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 4
cytosol 4
extracellular 2
golgi apparatus 1
mitochondrion 0
endoplasmic reticulum 0

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

PathCards logo

SuperPathways for AAGAB Gene

No Data Available

Gene Ontology (GO) - Biological Process for AAGAB Gene

GO ID Qualified GO term Evidence PubMed IDs
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

mRNA/cDNA for AAGAB Gene

3 REFSEQ mRNAs :
15 NCBI additional mRNA sequence :
7 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

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: - -
SP3:
SP4: -
SP5: -

Relevant External Links for AAGAB Gene

GeneLoc Exon Structure for
AAGAB

Expression for AAGAB Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and 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



Transcriptomic regulation report from SPP (The Signaling Pathways Project) for AAGAB

SOURCE GeneReport for Unigene cluster for AAGAB Gene:

Hs.254642

mRNA Expression by UniProt/SwissProt for AAGAB Gene:

Q6PD74-AAGAB_HUMAN
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
Systems:
  • digestive
  • endocrine
  • immune
  • integumentary
  • urinary
Regions:
Thorax:
  • breast
Abdomen:
  • intestine
  • kidney
  • large intestine
  • pancreas
Limb:
  • foot
  • hand
  • lower limb
  • nail
  • upper limb
General:
  • 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
chimpanzee
(Pan troglodytes)
Mammalia AAGAB 31 30
  • 99.47 (n)
OneToOne
dog
(Canis familiaris)
Mammalia AAGAB 31 30
  • 91.22 (n)
OneToOne
cow
(Bos Taurus)
Mammalia MGC152585 31
  • 91 (a)
OneToOne
AAGAB 30
  • 89.31 (n)
mouse
(Mus musculus)
Mammalia Aagab 17 31 30
  • 84.23 (n)
rat
(Rattus norvegicus)
Mammalia Aagab 30
  • 84.13 (n)
oppossum
(Monodelphis domestica)
Mammalia AAGAB 31
  • 82 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia AAGAB 31
  • 74 (a)
OneToOne
chicken
(Gallus gallus)
Aves AAGAB 31 30
  • 74.63 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia AAGAB 31
  • 64 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia aagab 30
  • 66.89 (n)
Str.15200 30
African clawed frog
(Xenopus laevis)
Amphibia Xl.10581 30
zebrafish
(Danio rerio)
Actinopterygii aagab 31 30
  • 62.31 (n)
OneToOne
sea squirt
(Ciona savignyi)
Ascidiacea CSA.5714 31
  • 33 (a)
OneToOne
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

ENSEMBL:
Gene Tree for AAGAB (if available)
TreeFam:
Gene Tree for AAGAB (if available)
Aminode:
Evolutionary constrained regions (ECRs) for AAGAB: view image

Paralogs for AAGAB Gene

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

  • AAGAB_HUMAN
  • B4DG44_HUMAN
  • H0YL49_HUMAN
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, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for AAGAB Gene

SNP ID Clinical significance and condition Chr 15 pos Variation AA Info Type
39737 Pathogenic: Keratosis palmoplantaris papulosa 67,203,547(-) C/T SPLICE_DONOR_VARIANT
rs1057518846 Likely Pathogenic: Palmoplantar keratoderma 67,235,978(-) C/A SPLICE_DONOR_VARIANT
rs1567027297 Pathogenic: Keratosis palmoplantaris papulosa 67,236,419(-) ACT/A FRAMESHIFT_VARIANT
rs1567027610 Pathogenic: Keratosis palmoplantaris papulosa 67,236,689(-) CAAGA/C FRAMESHIFT_VARIANT,FIVE_PRIME_UTR_VARIANT
rs1567037561 Pathogenic: not provided 67,254,571(-) G/A NONSENSE,FIVE_PRIME_UTR_VARIANT,INTRON_VARIANT

Additional dbSNP identifiers (rs#s) for AAGAB Gene

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

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

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)

Additional Variant Information for AAGAB Gene

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

SNP Genotyping and Copy Number Assay Products

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

Disorders for AAGAB Gene

MalaCards: The human disease database

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

Disorder Aliases PubMed IDs
palmoplantar keratoderma, punctate type ia
  • ppkp1a
punctate palmoplantar keratoderma
  • punctate keratosis palmoplantaris
keratosis
  • actinic keratosis
cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma syndrome
  • cednik syndrome
plantar wart
  • verruca plantaris
- elite association - COSMIC cancer census association via MalaCards
Search AAGAB in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

AAGAB_HUMAN
  • 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.

Additional Disease Information for AAGAB

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
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 54
  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 54
  3. Haploinsufficiency for AAGAB causes clinically heterogeneous forms of punctate palmoplantar keratoderma. (PMID: 23064416) Pohler E … McLean WH (Nature genetics 2012) 3 4 54
  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 41 54
  5. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4 54

Products for AAGAB Gene

Sources for AAGAB Gene