PITPNB (phosphatidylinositol transfer protein beta)
| Gene | |
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Entrez ID
Entrez Gene ID - the GENE ID in NCBI Gene database.
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23760 |
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Gene name
Gene Name - the full gene name approved by the HGNC.
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Phosphatidylinositol transfer protein beta |
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Gene symbol
Gene Symbol - the official gene symbol approved by the HGNC.
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PITPNB |
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Synonyms (NCBI Gene)
Gene synonyms aliases
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PI-TP-beta, PtdInsTP, VIB1B |
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Chromosome
Chromosome number
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22 |
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Chromosome location
Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
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22q12.1 |
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Summary
Summary of gene provided in NCBI Entrez Gene.
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This gene encodes a cytoplasmic protein that catalyzes the transfer of phosphatidylinositol and phosphatidylcholine between membranes. This transfer activity is required for COPI complex-mediated retrograde transport from the Golgi apparatus to the endopl |
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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 | P48739 | ||||||||||
| Protein name | Phosphatidylinositol transfer protein beta isoform (PI-TP-beta) (PtdIns transfer protein beta) (PtdInsTP beta) | ||||||||||
| Protein function | Catalyzes the transfer of phosphatidylinositol and phosphatidylcholine between membranes (PubMed:10531358, PubMed:18636990, PubMed:20332109). Also catalyzes the transfer of sphingomyelin (By similarity). Required for COPI-mediated retrograde tra | ||||||||||
| Family and domains |
Pfam
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| Tissue specificity | TISSUE SPECIFICITY: Widely expressed in various tissues including brain. | ||||||||||
| Sequence |
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| Sequence length | 271 | ||||||||||
| 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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