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PITPNB (phosphatidylinositol transfer protein beta)

Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
23760
Gene nameGene Name - the full gene name approved by the HGNC.
Phosphatidylinositol transfer protein beta
Gene symbolGene Symbol - the official gene symbol approved by the HGNC, which is a short abbreviated form of the gene name.
PITPNB
SynonymsGene synonyms aliases
PI-TP-beta, PtdInsTP, VIB1B
ChromosomeChromosome number
22
Chromosome locationChromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
22q12.1
SummarySummary of gene provided in NCBI Entrez Gene.
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
miRNAmiRNA information provided by mirtarbase database.
miRTarBase ID miRNA Experiments Reference
MIRT016434 hsa-miR-193b-3p Microarray 20304954
MIRT021667 hsa-miR-140-3p Sequencing 20371350
MIRT024573 hsa-miR-215-5p Microarray 19074876
MIRT025104 hsa-miR-181a-5p Sequencing 20371350
MIRT026369 hsa-miR-192-5p Microarray 19074876
Gene ontology (GO)Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0000139 Component Golgi membrane ISS
GO:0000139 Component Golgi membrane TAS
GO:0005515 Function Protein binding IPI 32814053
GO:0005737 Component Cytoplasm IBA 21873635
GO:0005789 Component Endoplasmic reticulum membrane ISS
Other IDsOther ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM
HGNC
e!Ensembl
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

Accession ID Position in sequence Description Type
PF02121 IP_trans
2 252
Phosphatidylinositol transfer protein
Family
Sequence
Sequence length 271
Interactions View interactions
PathwaysPathway information has different metabolic/signaling pathways associated with genes. Each record is hyperlinked to a complete information page which also includes links to the KEGG/Reactome pathway database.
 
Reactome
    PI and PC transport between ER and Golgi membranes
Associated diseases
Causal
Disease name Disease term dbSNP ID References
Breast carcinoma Breast Carcinoma rs80359671, rs11540652, rs28934575, rs28897672, rs137886232, rs193922376, rs80357783, rs80359306, rs80359405, rs80359507, rs80359598, rs80358429, rs397507683, rs397515636, rs80359451, rs397507859, rs80359709, rs80359742, rs80359205, rs80357627, rs80357004, rs80357571, rs80357767, rs80357653, rs80358086, rs80357608, rs28897696, rs41293465, rs146650273, rs63751017, rs63750617, rs63750726, rs63750199, rs63749848, rs398122618, rs398122653, rs397509211, rs80357791, rs121912666, rs587778541, rs121908698, rs536907995, rs587781302, rs140342925, rs587781506, rs587782652, rs587782849, rs587783057, rs10520699, rs11852999, rs139770721, rs374950566, rs786202800, rs863224451, rs377153250, rs747727055, rs876658804, rs780001540, rs760815829, rs878854926, rs775248597, rs886040658, rs886040192, rs786203523, rs886040319, rs397508006, rs587782011, rs1060502772, rs1555461727, rs1553333072, rs1114167702, rs1257401983, rs886040950, rs1060502759, rs774684620, rs142947311, rs1555580883, rs748513310, rs376170600, rs863224499, rs1593909229, rs748453607, rs1294578913, rs1574737047, rs1593909960, rs2081922847, rs2082559544, rs2053694038 29059683
Unknown
Disease name Disease term dbSNP ID References
Oestrogen receptor positive breast cancer Oestrogen receptor positive breast cancer 30787463

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