AAGAB (alpha and gamma adaptin binding protein)
| Gene | |
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Entrez ID
Entrez Gene ID - the GENE ID in NCBI Gene database.
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79719 |
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Gene name
Gene Name - the full gene name approved by the HGNC.
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Alpha and gamma adaptin binding protein |
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Gene symbol
Gene Symbol - the official gene symbol approved by the HGNC.
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AAGAB |
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Synonyms (NCBI Gene)
Gene synonyms aliases
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KPPP1, PPKP1, PPKP1A, p34 |
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Chromosome
Chromosome number
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15 |
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Chromosome location
Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
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15q23 |
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Summary
Summary of gene provided in NCBI Entrez Gene.
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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 |
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SNPs
SNP information provided by dbSNP.
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miRNA
miRNA information provided by mirtarbase database.
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Gene ontology (GO)
Gene ontology information of associated ontologies with gene provided by GO database.
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Other IDs
Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
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| 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
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| 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 |
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| 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)
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