PITPNB (phosphatidylinositol transfer protein beta)

2007-04-01  

Identity

HGNC
LOCATION
22q12.1
LOCUSID
ALIAS
PI-TP-beta,PtdInsTP,VIB1B
FUSION GENES

Other Information

Locus ID:

NCBI: 23760
MIM: 606876
HGNC: 9002
Ensembl: ENSG00000180957

Variants:

dbSNP: 23760
ClinVar: 23760
TCGA: ENSG00000180957
COSMIC: PITPNB

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000180957ENST00000320996P48739
ENSG00000180957ENST00000335272P48739
ENSG00000180957ENST00000415296B3KYB6
ENSG00000180957ENST00000436663B3KYB7
ENSG00000180957ENST00000455418A0A0A0MSW4
ENSG00000180957ENST00000634017P48739

Expression (GTEx)

0
50
100
150

Pathways

PathwaySourceExternal ID
MetabolismREACTOMER-HSA-1430728
Metabolism of lipids and lipoproteinsREACTOMER-HSA-556833
Phospholipid metabolismREACTOMER-HSA-1483257
Glycerophospholipid biosynthesisREACTOMER-HSA-1483206
PI and PC transport between ER and Golgi membranesREACTOMER-HSA-1483196
PI MetabolismREACTOMER-HSA-1483255

Protein levels (Protein atlas)

Not detected
Low
Medium
High

References

Pubmed IDYearTitleCitations
203321092010Phosphatidylinositol- and phosphatidylcholine-transfer activity of PITPbeta is essential for COPI-mediated retrograde transport from the Golgi to the endoplasmic reticulum.18
120239042002Phosphatidylinositol transfer protein beta displays minimal sphingomyelin transfer activity and is not required for biosynthesis and trafficking of sphingomyelin.10
167804192006Differential expression of a C-terminal splice variant of phosphatidylinositol transfer protein beta lacking the constitutive-phosphorylated Ser262 that localizes to the Golgi compartment.4

Citation

Dessen P

PITPNB (phosphatidylinositol transfer protein beta)

Atlas Genet Cytogenet Oncol Haematol. 2007-04-01

Online version: http://atlasgeneticsoncology.org/gene/46718/pitpnb