Pitpnm1 phosphatidylinositol transfer protein, membrane-associated 1 [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Pitpnm1provided by MGI
Official Full Name: phosphatidylinositol transfer protein, membrane-associated 1provided by MGI
Primary source: MGI:MGI:1197524
See related: Ensembl:ENSMUSG00000024851 AllianceGenome:MGI:1197524
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Mus musculus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as: Rd9; RdgB; DRES9; Mpt-1; Nir-2; RdgB1; Pitpnm; PITPnm 1
Summary: Predicted to enable several functions, including phospholipid binding activity; phospholipid transporter activity; and receptor tyrosine kinase binding activity. Predicted to be involved in phospholipid transport. Predicted to act upstream of or within protein transport. Predicted to be located in cell body; cytosol; and intracellular membrane-bounded organelle. Predicted to be active in cytoplasm. Is expressed in several structures, including central nervous system; eye; genitourinary system; hemolymphoid system; and liver. Orthologous to human PITPNM1 (phosphatidylinositol transfer protein membrane associated 1). [provided by Alliance of Genome Resources, Apr 2022]
Expression: Ubiquitous expression in cerebellum adult (RPKM 64.7), spleen adult (RPKM 49.4) and 22 other tissues See more
Orthologs: human all
NEW: Try the new Gene table
Try the new Transcript table

Genomic context

Location:: 19 A; 19 3.81 cM

Exon count:: 23

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	19	NC_000085.7 (4150012..4163966)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	19	NC_000085.6 (4099998..4113966)

Chromosome 19 - NC_000085.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

Go to the top of the page Help

Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

Go to the top of the page Help

See details

Project title: 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

Go to the top of the page Help

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

the VAP-interacting membrane-associated phosphatidylinositol (PtdIns) transfer proteins PYK2 N-terminal domain-interacting receptor 2 (Nir2) and Nir3 specifically associate with Kv2.1 complexes.
Title: Neuronal ER-plasma membrane junctions organized by Kv2-VAP pairing recruit Nir proteins and affect phosphoinositide homeostasis.
Pitpnm1 null mice showed no hearing defects.
Title: Pitpnm1 is expressed in hair cells during development but is not required for hearing.
results suggest that Nir2 not only enhances EMT in vitro and breast cancer metastasis in animal models, but also contributes to breast cancer progression in human patients.
Title: The lipid-transfer protein Nir2 enhances epithelial-mesenchymal transition and facilitates breast cancer metastasis.
RdgB homologs play a preemptive role in excluding endogenous and exogenous modified purine deoxyribonucleoside triphosphates (dTNPs) from incorporation into DNA.
Title: Substrate specificity of RdgB protein, a deoxyribonucleoside triphosphate pyrophosphohydrolase.

Submit: New GeneRIF Correction

Variation

Go to the top of the page Help

Alleles

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

Targeted (1)
Endonuclease-mediated (2)

Interactions

Go to the top of the page Help

Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

Go to the top of the page Help

Markers

RH125241 (e-PCR)
- UniSTS:162063

RH126120 (e-PCR)
- UniSTS:162832

Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables calcium ion binding	ISO Inferred from Sequence Orthology more info
enables metal ion binding	IEA Inferred from Electronic Annotation more info
enables phosphatidic acid binding	ISO Inferred from Sequence Orthology more info
enables phosphatidylcholine binding	IBA Inferred from Biological aspect of Ancestor more info
enables phosphatidylcholine binding	ISO Inferred from Sequence Orthology more info
enables phosphatidylcholine transporter activity	IBA Inferred from Biological aspect of Ancestor 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 phospholipid binding	ISA Inferred from Sequence Alignment more info	PubMed
enables phospholipid transporter activity	IEA Inferred from Electronic Annotation more info
enables receptor tyrosine kinase binding	ISO Inferred from Sequence Orthology more info

Process	Evidence Code	Pubs
involved_in phospholipid transport	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within protein transport	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
located_in Golgi apparatus	IEA Inferred from Electronic Annotation more info
located_in cell body	ISO Inferred from Sequence Orthology more info
is_active_in cytoplasm	IBA Inferred from Biological aspect of Ancestor more info
located_in cytosol	ISO Inferred from Sequence Orthology more info
located_in endoplasmic reticulum	IEA Inferred from Electronic Annotation more info
located_in intracellular membrane-bounded organelle	ISO Inferred from Sequence Orthology more info
located_in lipid droplet	IEA Inferred from Electronic Annotation more info
located_in membrane	IEA Inferred from Electronic Annotation more info

General protein information

Go to the top of the page Help

Preferred Names: membrane-associated phosphatidylinositol transfer protein 1

Names: drosophila retinal degeneration B homolog 1; pyk2 N-terminal domain-interacting receptor 2; retinal degeneration 9

NCBI Reference Sequences (RefSeq)

Go to the top of the page Help

NEW Try the new Transcript table

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_008851.4 → NP_032877.1 membrane-associated phosphatidylinositol transfer protein 1

See identical proteins and their annotated locations for NP_032877.1

Status: VALIDATED

Description

Transcript Variant: This variant (1) represents the longer transcript and encodes the supported protein.

Source sequence(s)

AC109138, BC048150, BY261372, CJ097166

Consensus CDS

CCDS37883.1

UniProtKB/Swiss-Prot

O35954

Related

ENSMUSP00000097599.4, ENSMUST00000100022.4

Conserved Domains (4) summary

cd08889
Location:1 → 257

SRPBCC_PITPNM1-2_like; Lipid-binding SRPBCC domain of mammalian PITPNM1-2 and related proteins (Class IIA PITPs)

smart00775
Location:1022 → 1153

LNS2; This domain is found in Saccharomyces cerevisiae protein SMP2, proteins with an N-terminal lipin domain and phosphatidylinositol transfer proteins

pfam02862
Location:688 → 878

DDHD; DDHD domain

cl21470
Location:963 → 995

Peptidase_M14NE-CP-C_like; Peptidase associated domain: C-terminal domain of M14 N/E carboxypeptidase; putative folding, regulation, or interaction domain

RNA

NR_075078.2 RNA Sequence

Status: VALIDATED

Description

Transcript Variant: This variant (2) includes an alternate 5' exon structure compared to variant 1. This variant is represented as non-coding due to the presence of an upstream ORF that is predicted to interfere with translation of the longest ORF; translation of the upstream ORF renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).

Source sequence(s)

AC109138
NR_177186.1 RNA Sequence

Status: VALIDATED

Source sequence(s)

AC109138
NR_177187.1 RNA Sequence

Status: VALIDATED

Source sequence(s)

AC109138

RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCm39 C57BL/6J

Genomic

NC_000085.7 Reference GRCm39 C57BL/6J

Range

4150012..4163966

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_030250773.2 → XP_030106633.1 membrane-associated phosphatidylinositol transfer protein 1 isoform X2

Related

ENSMUST00000151957.8

Conserved Domains (3) summary

smart00775
Location:425 → 556

LNS2; This domain is found in Saccharomyces cerevisiae protein SMP2, proteins with an N-terminal lipin domain and phosphatidylinositol transfer proteins

pfam02862
Location:91 → 281

DDHD; DDHD domain

cl21470
Location:346 → 430

Peptidase_M14NE-CP-C_like; Peptidase associated domain: C-terminal domain of M14 N/E carboxypeptidase; putative folding, regulation, or interaction domain
XM_036161462.1 → XP_036017355.1 membrane-associated phosphatidylinositol transfer protein 1 isoform X1

Conserved Domains (2) summary

smart00775
Location:429 → 560

LNS2; This domain is found in Saccharomyces cerevisiae protein SMP2, proteins with an N-terminal lipin domain and phosphatidylinositol transfer proteins

pfam02862
Location:95 → 285

DDHD; DDHD domain

RNA

XR_003952754.2 RNA Sequence
XR_003952755.2 RNA Sequence
XR_004940120.1 RNA Sequence

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

NM_001136078.1: Suppressed sequence

Description

NM_001136078.1: This RefSeq was permanently suppressed because currently there is support for the transcript but not for the protein.