Pitpnb phosphatidylinositol transfer protein, beta [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Pitpnbprovided by MGI
Official Full Name: phosphatidylinositol transfer protein, betaprovided by MGI
Primary source: MGI:MGI:1927542
See related: Ensembl:ENSMUSG00000050017 AllianceGenome:MGI:1927542
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Mus musculus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as: PI-TP-beta
Summary: This gene encodes a member of the phosphatidylinositol transfer protein family. The encoded protein catalyzes the transfer of phospholipids (phosphatidylinositol and phosphatidylcholine) between membranes. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2014]
Expression: Ubiquitous expression in limb E14.5 (RPKM 26.4), bladder adult (RPKM 24.5) and 28 other tissues See more
Orthologs: human all
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Genomic context

Location:: 5 F; 5 53.79 cM

Exon count:: 12

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	5	NC_000071.7 (111478563..111536225)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	5	NC_000071.6 (111330697..111388359)

Chromosome 5 - NC_000071.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: Mouse ENCODE transcriptome data Mouse ENCODE transcriptome data
Description: RNA profiling data sets generated by the Mouse ENCODE project.
BioProject: PRJNA66167
Publication: PMID 25409824
Analysis date: n/a

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

these data show that ablating PITPs in MKs indirectly dysregulates hematopoiesis in the BM by disrupting alpha-granule physiology and secretion of TGF-beta1.
Title: Phosphatidylinositol transfer proteins regulate megakaryocyte TGF-β1 secretion and hematopoiesis in mice.
Mouse NIH3T3 fibroblast cells overexpressing phosphatidylinositol transfer protein beta (PI-TPbeta, SPIbeta cells) demonstrate a low rate of proliferation and a high sensitivity towards UV-induced apoptosis when compared with wtNIH3T3 cells.
Title: The anti-apoptotic MAP kinase pathway is inhibited in NIH3T3 fibroblasts with increased expression of phosphatidylinositol transfer protein beta.
Data suggest that phosphatidylinositol transfer protein (PITP) beta is an essential housekeeping PITP in murine cells, whereas PITP alpha plays a far more specialized function in mammals.
Title: Genetic ablation of phosphatidylinositol transfer protein function in murine embryonic stem cells.
The Golgi localization of phosphatidylinositol transfer protein beta requires the protein kinase C-dependent phosphorylation of serine
Title: The Golgi localization of phosphatidylinositol transfer protein beta requires the protein kinase C-dependent phosphorylation of serine 262 and is essential for maintaining plasma membrane sphingomyelin levels.
The PITPbeta deficiency results in catastrophic failure early in murine embryonic development, and the PITPbeta is an essential housekeeping PIPT in murine cells.
Title: Biological functions of phosphatidylinositol transfer proteins.
PITPbeta localizes predominantly to the trans-Golgi network (TGN) and that this localization is independent of the phospholipid-bound state of PITPbeta.
Title: Specific and nonspecific membrane-binding determinants cooperate in targeting phosphatidylinositol transfer protein beta-isoform to the mammalian trans-Golgi network.
investigation of whether a relationship exists between PI-TPbeta being involved in maintaining plasma membrane sphingomyelin levels and the enhanced sensitivity towards apoptosis
Title: Overexpression of phosphatidylinositol transfer protein beta in NIH3T3 cells has a stimulatory effect on sphingomyelin synthesis and apoptosis.

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Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics (MGI)

Targeted (3) 1 citation

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

NoName (e-PCR)
- UniSTS:224910

RH126020 (e-PCR)
- UniSTS:162732

AU040890 (e-PCR)
- UniSTS:159420

AI256223 (e-PCR)
- UniSTS:159421

NoName (e-PCR)
- UniSTS:235260

Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables phosphatidylcholine binding	IBA Inferred from Biological aspect of Ancestor more info
enables phosphatidylcholine binding	ISO Inferred from Sequence Orthology more info
enables phosphatidylcholine transfer activity	ISO Inferred from Sequence Orthology more info
enables phosphatidylcholine transfer activity	ISS Inferred from Sequence or Structural Similarity more info
enables phosphatidylcholine transporter activity	IBA Inferred from Biological aspect of Ancestor more info
enables phosphatidylcholine transporter activity	ISO Inferred from Sequence Orthology more info
enables phosphatidylinositol binding	IBA Inferred from Biological aspect of Ancestor more info
enables phosphatidylinositol binding	ISO Inferred from Sequence Orthology more info
enables phosphatidylinositol transfer activity	IBA Inferred from Biological aspect of Ancestor more info
enables phosphatidylinositol transfer activity	ISO Inferred from Sequence Orthology more info
enables phosphatidylinositol transfer activity	ISS Inferred from Sequence or Structural Similarity more info
enables phospholipid binding	ISA Inferred from Sequence Alignment more info	PubMed
enables sphingomyelin transfer activity	ISS Inferred from Sequence or Structural Similarity more info

Process	Evidence Code	Pubs
acts_upstream_of_or_within in utero embryonic development	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in intermembrane lipid transfer	IEA Inferred from Electronic Annotation more info
involved_in phospholipid transport	IEA Inferred from Electronic Annotation more info
involved_in phospholipid transport	ISO Inferred from Sequence Orthology more info
involved_in retrograde vesicle-mediated transport, Golgi to endoplasmic reticulum	ISO Inferred from Sequence Orthology more info
involved_in retrograde vesicle-mediated transport, Golgi to endoplasmic reticulum	ISS Inferred from Sequence or Structural Similarity more info

Component	Evidence Code	Pubs
located_in Golgi apparatus	IDA Inferred from Direct Assay more info	PubMed
located_in Golgi membrane	ISO Inferred from Sequence Orthology more info
located_in Golgi membrane	ISS Inferred from Sequence or Structural Similarity more info
is_active_in cytoplasm	IBA Inferred from Biological aspect of Ancestor more info
located_in endoplasmic reticulum membrane	ISO Inferred from Sequence Orthology more info
located_in endoplasmic reticulum membrane	ISS Inferred from Sequence or Structural Similarity more info

General protein information

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Preferred Names: phosphatidylinositol transfer protein beta isoform

Names: Pitp beta; phosphotidylinositol transfer protein, beta; ptdIns transfer protein beta; ptdInsTP beta

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

NM_001301643.1 → NP_001288572.1 phosphatidylinositol transfer protein beta isoform isoform 1

See identical proteins and their annotated locations for NP_001288572.1

Status: REVIEWED

Description

Transcript Variant: This variant (1) encodes the longest isoform (1).

Source sequence(s)

AC122226, BC034676, BY205337

Consensus CDS

CCDS80368.1

UniProtKB/TrEMBL

Q8JZZ5

Related

ENSMUSP00000142732.2, ENSMUST00000200298.2

Conserved Domains (1) summary

cd08888
Location:3 → 258

SRPBCC_PITPNA-B_like; Lipid-binding SRPBCC domain of mammalian PITPNA, -B, and related proteins (Class I PITPs)
NM_001301644.1 → NP_001288573.1 phosphatidylinositol transfer protein beta isoform isoform 3

Status: REVIEWED

Description

Transcript Variant: This variant (3) has multiple differences, compared to variant 1. These differences result in a distinct 5' UTR, cause translation initiation at a downstream start codon, and result in a distinct 3' coding region and UTR, compared to variant 1. The encoded isoform (3) is shorter and has a distinct C-terminus, compared to isoform 1.

Source sequence(s)

AC122226, AK028235, BC034676, BY205337, CK619028

UniProtKB/Swiss-Prot

P53811

UniProtKB/TrEMBL

Q8JZZ5

Conserved Domains (1) summary

cl14643
Location:1 → 186

SRPBCC; START/RHO_alpha_C/PITP/Bet_v1/CoxG/CalC (SRPBCC) ligand-binding domain superfamily
NM_001301666.1 → NP_001288595.1 phosphatidylinositol transfer protein beta isoform isoform 4

Status: REVIEWED

Description

Transcript Variant: This variant (4) lacks an alternate in-frame exon in the central coding region compared to variant 1. It encodes isoform 4, which is shorter compared to isoform 1.

Source sequence(s)

AC122226, BC034676, BQ178694, BY205337

UniProtKB/TrEMBL

Q8JZZ5

Conserved Domains (1) summary

cd08888
Location:3 → 230

SRPBCC_PITPNA-B_like; Lipid-binding SRPBCC domain of mammalian PITPNA, -B, and related proteins (Class I PITPs)
NM_001359215.1 → NP_001346144.1 phosphatidylinositol transfer protein beta isoform isoform 5

Status: REVIEWED

Description

Transcript Variant: This variant (5) uses an alternate in-frame splice junction compared to variant 1. The resulting isoform (5) has the same N- and C-termini but is 1 aa shorter compared to isoform 1.

Source sequence(s)

AC122226

Conserved Domains (1) summary

cd08888
Location:3 → 257

SRPBCC_PITPNA-B_like; Lipid-binding SRPBCC domain of mammalian PITPNA, -B, and related proteins (Class I PITPs)
NM_001359216.1 → NP_001346145.1 phosphatidylinositol transfer protein beta isoform isoform 6

Status: REVIEWED

Description

Transcript Variant: This variant (6) lacks two alternate exons and differs in the 3' UTR and coding sequence compared to variant 1. The resulting isoform (6) lacks an alternate internal segment and has a shorter and distinct C-terminus compared to isoform 1.

Source sequence(s)

AC122226

Conserved Domains (1) summary

cl14643
Location:8 → 200

SRPBCC; START/RHO_alpha_C/PITP/Bet_v1/CoxG/CalC (SRPBCC) ligand-binding domain superfamily
NM_001359217.1 → NP_001346146.1 phosphatidylinositol transfer protein beta isoform isoform 7

Status: REVIEWED

Description

Transcript Variant: This variant (7) differs in the 5' UTR and coding sequence compared to variant 1. The resulting isoform (7) is shorter at the N-terminus compared to isoform 1.

Source sequence(s)

AC122226

Conserved Domains (1) summary

cl14643
Location:1 → 185

SRPBCC; START/RHO_alpha_C/PITP/Bet_v1/CoxG/CalC (SRPBCC) ligand-binding domain superfamily
NM_019640.5 → NP_062614.1 phosphatidylinositol transfer protein beta isoform isoform 2

See identical proteins and their annotated locations for NP_062614.1

Status: REVIEWED

Description

Transcript Variant: This variant (2) differs in the 3' UTR and 3' coding region compared to variant 1. The encoded isoform (2) has a distinct and shorter C-terminus compared to isoform 1.

Source sequence(s)

AC122226, AK028235, BC034676, BY205337

Consensus CDS

CCDS39213.1

UniProtKB/Swiss-Prot

P53811

Related

ENSMUSP00000083835.5, ENSMUST00000086635.9

Conserved Domains (1) summary

cd08888
Location:3 → 259

SRPBCC_PITPNA-B_like; Lipid-binding SRPBCC domain of mammalian PITPNA, -B, and related proteins (Class I PITPs)