PRPF40A (pre-mRNA processing factor 40A)
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Gene
Gene information from NCBI Gene database.
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| Entrez ID | 55660 |
| Gene name | Pre-mRNA processing factor 40A |
| Gene symbol | PRPF40A |
| Synonyms (NCBI Gene) |
FBP-11FBP11FLAF1FNBP3HIP-10HIP10HYPANY-REN-6Prp40
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| Chromosome | 2 |
| Chromosome location | 2q23.3 |
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miRNA
miRNA information provided by mirtarbase database.
413
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Gene ontology (GO)
Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
20
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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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O75400 | ||||||||||||||||||||||||||||||||||||||||
| Protein name | Pre-mRNA-processing factor 40 homolog A (Fas ligand-associated factor 1) (Formin-binding protein 11) (Formin-binding protein 3) (Huntingtin yeast partner A) (Huntingtin-interacting protein 10) (HIP-10) (Huntingtin-interacting protein A) (Renal carcinoma a | ||||||||||||||||||||||||||||||||||||||||
| Protein function | Binds to WASL/N-WASP and suppresses its translocation from the nucleus to the cytoplasm, thereby inhibiting its cytoplasmic function (By similarity). Plays a role in the regulation of cell morphology and cytoskeletal organization. Required in th | ||||||||||||||||||||||||||||||||||||||||
| PDB | 1UZC , 1YWI , 1YWJ , 1ZR7 , 2CQN , 2DYF , 2KZG , 2L5F , 2L9V , 2LKS , 8PXW , 8PXX | ||||||||||||||||||||||||||||||||||||||||
| Family and domains |
Pfam
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| Tissue specificity | TISSUE SPECIFICITY: Expressed in the brain cortex (at protein level). Widely expressed. {ECO:0000269|PubMed:16391387, ECO:0000269|PubMed:9700202}. | ||||||||||||||||||||||||||||||||||||||||
| Sequence |
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| Sequence length | 957 | ||||||||||||||||||||||||||||||||||||||||
| 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 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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