Free for academic non-profit institutions. Other users need a Commercial license

Aliases for AAGAB Gene

Aliases for AAGAB Gene

  • Alpha- And Gamma-Adaptin Binding Protein 2 3
  • PPKP1A 3 6
  • KPPP1 3 6
  • PPKP1 3 6
  • P34 3 6
  • Alpha- And Gamma-Adaptin-Binding Protein 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 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

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

Genomics for AAGAB Gene

Epigenetics Products

  • DNA Methylation CpG Assay Predesigned for Pyrosequencing in human,mouse,rat

Genomic Location for AAGAB Gene

Start:
67,200,675 bp from pter
End:
67,255,198 bp from pter
Size:
54,524 bases
Orientation:
Minus strand

Genomic View for AAGAB Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for AAGAB Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for AAGAB Gene

No data available for Regulatory Elements 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

Proteomics data for AAGAB Gene at MOPED

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 for AAGAB Gene

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 Gene Families 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.

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

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

Animal Model Products

CRISPR Products

miRNA for AAGAB Gene

miRTarBase miRNAs that target AAGAB

No data available for Enzyme Numbers (IUBMB) , Animal Models , Transcription Factor Targeting 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
Jensen Localization Image for AAGAB Gene COMPARTMENTS Subcellular localization image for AAGAB gene
Compartment Confidence
cytosol 5
extracellular 3
endoplasmic reticulum 1
mitochondrion 1
nucleus 1

Gene Ontology (GO) - Cellular Components for AAGAB Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus --
GO:0005654 nucleoplasm IDA --
GO:0005737 cytoplasm IDA --
GO:0005829 cytosol IEA --
genes like me logo Genes that share ontologies with AAGAB: view

Pathways 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:0015031 protein transport IEA --
genes like me logo Genes that share ontologies with AAGAB: view

No data available for Pathways by source for AAGAB Gene

Transcripts for AAGAB Gene

Unigene Clusters for AAGAB Gene

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

CRISPR Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for AAGAB

Primer Products

Flow Cytometry 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
ECgene alternative splicing isoforms for
AAGAB

Expression for AAGAB Gene

mRNA expression in normal human tissues for AAGAB Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, MOPED, and MaxQB for AAGAB Gene

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.
genes like me logo Genes that share expressions with AAGAB: view

In Situ Assay Products

No data available for mRNA differential expression in normal tissues 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 35
  • 99.47 (n)
  • 99.68 (a)
AAGAB 36
  • 100 (a)
OneToOne
cow
(Bos Taurus)
Mammalia AAGAB 35
  • 89.31 (n)
  • 90.79 (a)
MGC152585 36
  • 91 (a)
OneToOne
dog
(Canis familiaris)
Mammalia AAGAB 35
  • 91.22 (n)
  • 91.43 (a)
AAGAB 36
  • 76 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Aagab 35
  • 84.23 (n)
  • 85.71 (a)
Aagab 16
Aagab 36
  • 85 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia AAGAB 36
  • 82 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia AAGAB 36
  • 74 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Aagab 35
  • 84.13 (n)
  • 85.4 (a)
chicken
(Gallus gallus)
Aves AAGAB 35
  • 74.63 (n)
  • 74.52 (a)
AAGAB 36
  • 75 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia AAGAB 36
  • 64 (a)
OneToOne
African clawed frog
(Xenopus laevis)
Amphibia Xl.10581 35
tropical clawed frog
(Silurana tropicalis)
Amphibia aagab 35
  • 66.89 (n)
  • 66.67 (a)
Str.15200 35
zebrafish
(Danio rerio)
Actinopterygii aagab 35
  • 62.31 (n)
  • 59.48 (a)
aagab 36
  • 55 (a)
OneToOne
sea squirt
(Ciona savignyi)
Ascidiacea CSA.5714 36
  • 33 (a)
OneToOne
Species with no ortholog for AAGAB:
  • 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)

Paralogs for AAGAB Gene

Selected 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 MAF
rs8991 -- 67,201,966(-) AAGGC(A/C)CATTT utr-variant-3-prime
rs12476 -- 67,201,388(-) ACCAC(A/G)GGGAG utr-variant-3-prime
rs15974 -- 67,201,248(+) GGGCT(C/G)GTGGT utr-variant-3-prime
rs877176 -- 67,213,532(+) TGGGG(A/G)AAGGG intron-variant
rs877177 -- 67,213,622(+) AAGCA(A/T)ATGAA intron-variant

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

Variant ID Type Subtype PubMed ID
nsv819309 CNV Loss 19587683
esv3519 CNV Deletion 18987735
esv2749800 CNV Deletion 23290073
esv999184 CNV Deletion 20482838
esv8158 CNV Loss 19470904
nsv827371 CNV Loss 20364138

Relevant External Links for AAGAB Gene

HapMap Linkage Disequilibrium report
AAGAB
Human Gene Mutation Database (HGMD)
AAGAB

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

Disorders for AAGAB Gene

MalaCards: The human disease database

MalaCards: The human disease database. (3) Diseases for AAGAB Gene including...

Search for AAGAB Gene in MalaCards »

(1) OMIM Diseases for AAGAB Gene (614888)

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.

(1) University of Copenhagen DISEASES for AAGAB Gene

Relevant External Links for AAGAB

Genetic Association Database (GAD)
AAGAB
Human Genome Epidemiology (HuGE) Navigator
AAGAB
genes like me logo Genes that share disorders with AAGAB: view

Publications for AAGAB Gene

  1. Towards 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 Res. 2001) 2 3 4
  2. Gamma-synergin: an EH domain-containing protein that interacts with gamma-adaptin. (PMID: 10477754) Page L.J. … Robinson M.S. (J. Cell Biol. 1999) 2 3
  3. Polymorphisms in predicted miRNA binding sites and osteoporosis. (PMID: 20641033) Lei S.F. … Deng H.W. (J. Bone Miner. Res. 2011) 3 48
  4. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T. … Sugano S. (Nat. Genet. 2004) 3 4
  5. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard D.S. … Malek J. (Genome Res. 2004) 3 4

Products for AAGAB Gene

Sources for AAGAB Gene

Back to Top

Content