Gene Gene information from NCBI Gene database.
Entrez ID 79719
Gene name Alpha and gamma adaptin binding protein
Gene symbol AAGAB
Synonyms (NCBI Gene)
KPPP1PPKP1PPKP1Ap34
Chromosome 15
Chromosome location 15q23
Summary 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.
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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.
502
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 (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
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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 identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
614888 25662 ENSG00000103591
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
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
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
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Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
AAGAB-related disorder Likely pathogenic rs2505534485 RCV003391336
Colon adenocarcinoma Pathogenic rs748785284 RCV005870015
Palmoplantar keratoderma Likely pathogenic rs1057518846 RCV000415378
Palmoplantar keratoderma, punctate type 1A Likely pathogenic; Pathogenic rs753247583, rs748785284, rs2505364268, rs2505534817, rs746488412, rs200564757, rs1567027297, rs781596375, rs1567027610, rs1567037561 RCV001329993
RCV005010972
RCV003130947
RCV004594755
RCV000032947
RCV000032948
RCV000032949
RCV000032950
RCV000032951
RCV001784368
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Cervical cancer Benign rs117853536 RCV005905175
Gastric cancer Benign rs117853536 RCV005905176
Hepatocellular carcinoma Benign rs117853536 RCV005905173
Malignant tumor of esophagus Benign rs117853536 RCV005905174
Associations from Text MiningDisease 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