ANKFY1 (ankyrin repeat and FYVE domain containing 1)
| Gene | |
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Entrez ID
Entrez Gene ID - the GENE ID in NCBI Gene database.
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51479 |
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Gene name
Gene Name - the full gene name approved by the HGNC.
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Ankyrin repeat and FYVE domain containing 1 |
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Gene symbol
Gene Symbol - the official gene symbol approved by the HGNC.
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ANKFY1 |
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Synonyms (NCBI Gene)
Gene synonyms aliases
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ANKHZN, BTBD23, ZFYVE14 |
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Chromosome
Chromosome number
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17 |
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Chromosome location
Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
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17p13.2 |
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Summary
Summary of gene provided in NCBI Entrez Gene.
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This gene encodes a cytoplasmic protein that contains a coiled-coil structure and a BTB/POZ domain at its N-terminus, ankyrin repeats in the middle portion, and a FYVE-finger motif at its C-terminus. This protein belongs to a subgroup of double zinc finge |
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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 | Q9P2R3 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Protein name | Rabankyrin-5 (Rank-5) (Ankyrin repeat and FYVE domain-containing protein 1) (Ankyrin repeats hooked to a zinc finger motif) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Protein function | Proposed effector of Rab5. Binds to phosphatidylinositol 3-phosphate (PI(3)P). Involved in homotypic early endosome fusion and to a lesser extent in heterotypic fusion of chlathrin-coated vesicles with early endosomes. Involved in macropinocytos | |||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Family and domains |
Pfam
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| Tissue specificity | TISSUE SPECIFICITY: High expression in whole adult brain and intermediate expression in all other tissues and specific brain regions examined, including fetal brain. {ECO:0000269|PubMed:10574462, ECO:0000269|PubMed:10940552}. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Sequence | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Sequence length | 1169 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||
| 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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