RILPL1 (Rab interacting lysosomal protein like 1)
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Gene
Gene information from NCBI Gene database.
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| Entrez ID | 353116 |
| Gene name | Rab interacting lysosomal protein like 1 |
| Gene symbol | RILPL1 |
| Synonyms (NCBI Gene) |
GOSPELOPDM4RLP1
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| Chromosome | 12 |
| Chromosome location | 12q24.31 |
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miRNA
miRNA information provided by mirtarbase database.
164
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Gene ontology (GO)
Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
29
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Other IDs
Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
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Protein
Protein information from UniProt database.
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UniProt ID
Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
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Q5EBL4 | |||||||||||||||
| Protein name | RILP-like protein 1 (Rab-interacting lysosomal-like protein 1) | |||||||||||||||
| Protein function | Plays a role in the regulation of cell shape and polarity (By similarity). Plays a role in cellular protein transport, including protein transport away from primary cilia (By similarity). Neuroprotective protein, which acts by sequestring GAPDH | |||||||||||||||
| Family and domains |
Pfam
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| Tissue specificity | TISSUE SPECIFICITY: Widely expressed. Expressed at lower level in liver and kidney. {ECO:0000269|PubMed:14668488}. | |||||||||||||||
| Sequence |
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| Sequence length | 403 | |||||||||||||||
| Interactions | View interactions | |||||||||||||||
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Associated diseases
Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
5
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Evidence Score:
★☆☆☆☆ Gene-disease association found in Text Mining only
★★☆☆☆ Found in Text Mining and Unknown/Other Associations
★★★☆☆ Reported in Unknown/Other Associations across ≥2 Sources
★★★★☆ ClinVar: Pathogenic/Likely Pathogenic (<5 Variants)
★★★★★ ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
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