AP4E1 (adaptor related protein complex 4 subunit epsilon 1)
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Entrez ID
Entrez Gene ID - the GENE ID in NCBI Gene database.
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23431 |
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Gene name
Gene Name - the full gene name approved by the HGNC.
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Adaptor related protein complex 4 subunit epsilon 1 |
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Gene symbol
Gene Symbol - the official gene symbol approved by the HGNC.
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AP4E1 |
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Synonyms (NCBI Gene)
Gene synonyms aliases
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CPSQ4, SPG51, STUT1 |
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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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15q21.2 |
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Summary
Summary of gene provided in NCBI Entrez Gene.
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This gene encodes a member of the adaptor complexes large subunit protein family. These proteins are components of the heterotetrameric adaptor protein complexes, which play important roles in the secretory and endocytic pathways by mediating vesicle form |
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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 | Q9UPM8 | |||||||||||||||
| Protein name | AP-4 complex subunit epsilon-1 (AP-4 adaptor complex subunit epsilon) (Adaptor-related protein complex 4 subunit epsilon-1) (Epsilon subunit of AP-4) (Epsilon-adaptin) | |||||||||||||||
| Protein function | Component of the adaptor protein complex 4 (AP-4). Adaptor protein complexes are vesicle coat components involved both in vesicle formation and cargo selection. They control the vesicular transport of proteins in different trafficking pathways ( | |||||||||||||||
| Family and domains |
Pfam
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| Tissue specificity | TISSUE SPECIFICITY: Widely expressed. {ECO:0000269|PubMed:10436028}. | |||||||||||||||
| Sequence | ||||||||||||||||
| Sequence length | 1137 | |||||||||||||||
| Interactions | View interactions | |||||||||||||||
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Pathways
Pathway information has different metabolic/signaling pathways associated with genes.
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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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