Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
79719
Gene name Gene Name - the full gene name approved by the HGNC.
Alpha and gamma adaptin binding protein
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
AAGAB
Synonyms (NCBI Gene) Gene synonyms aliases
KPPP1, PPKP1, PPKP1A, p34
Chromosome Chromosome number
15
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
15q23
Summary Summary of gene provided in NCBI Entrez 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 s
SNPs SNP information provided by dbSNP.
SNP ID Visualize variation Clinical significance Consequence
rs200564757 G>A,T Pathogenic Coding sequence variant, synonymous variant, stop gained
rs746488412 G>A Pathogenic Stop gained, coding sequence variant
rs753247583 C>T Pathogenic Splice donor variant, genic downstream transcript variant
rs781596375 C>- Pathogenic Frameshift variant, coding sequence variant
rs1057518846 C>A,G Likely-pathogenic Splice donor variant
miRNA miRNA information provided by mirtarbase database.
miRTarBase ID miRNA Experiments Reference
MIRT049395 hsa-miR-92a-3p CLASH 23622248
MIRT038743 hsa-miR-93-3p CLASH 23622248
MIRT624893 hsa-miR-548as-3p HITS-CLIP 23824327
MIRT624892 hsa-miR-548at-3p HITS-CLIP 23824327
MIRT624891 hsa-miR-548ay-3p HITS-CLIP 23824327
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0005515 Function Protein binding IPI 25416956, 28514442, 29892012, 32296183, 33961781, 35271311
GO:0005737 Component Cytoplasm IDA
GO:0005737 Component Cytoplasm IEA
GO:0005829 Component Cytosol IDA
GO:0005829 Component Cytosol IEA
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
614888 25662 ENSG00000103591
Protein
UniProt ID Q6PD74
Protein name Alpha- and gamma-adaptin-binding protein p34
Protein function May be involved in endocytic recycling of growth factor receptors such as EGFR.
PDB 7TWD
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF10199 Adaptin_binding 155 294 Family
Tissue specificity TISSUE SPECIFICITY: Widely expressed, including in skin and keratinocytes, with highest levels in adrenal gland, rectum and thymus. {ECO:0000269|PubMed:23000146, ECO:0000269|PubMed:23064416}.
Sequence
MAAGVPCALVTSCSSVFSGDQLVQHILGTEDLIVEVTSNDAVRFYPWTIDNKYYSADINL
CVVPNKFLVTAEIAESVQAFVVYFDSTQKSGLDSVSSWLPLAKAWLPEVMILVCDRVSED
GINRQKAQEWCIKHGFELVELSPEELPEEDDDFPESTGVKRIVQALNANVWSNVVMKNDR
NQGFSLLNSLTGTNHSIGSADPCHPEQPHLPAADSTESLSDHRGGASNTTDAQVDSIVDP
MLDLDIQELASLTTGGGDVENFERLFSKLKEMKDKAATLPHEQRKVHAEKVAKA
FWMAIG
GDRDEIEGLSSDEEH
Sequence length 315
Interactions View interactions
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Disease merge term Disease name dbSNP ID References
Palmoplantar Keratoderma Palmoplantar keratoderma, punctate type 1A rs1567027297, rs781596375, rs1567027610, rs1567037561, rs746488412, rs200564757 N/A
palmoplantar keratoderma Palmoplantar keratoderma rs1057518846 N/A
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
Punctate Palmoplantar Keratoderma punctate palmoplantar keratoderma type 1 N/A N/A GenCC
Associations from Text Mining Disease associations identified through Pubtator
Disease Name Relationship Type References
Breast Neoplasms Associate 31200764
Keratoderma Palmoplantar Associate 23064416, 31353312
Keratosis palmoplantaris papulosa Associate 23000146, 26608363, 31353312, 33765759
Skin Diseases Associate 31353312