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PITPNM1 phosphatidylinositol transfer protein membrane associated 1 [ Homo sapiens (human) ]

Gene ID: 9600, updated on 7-Apr-2024

Summary

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Official Symbol
PITPNM1provided by HGNC
Official Full Name
phosphatidylinositol transfer protein membrane associated 1provided by HGNC
Primary source
HGNC:HGNC:9003
See related
Ensembl:ENSG00000110697 MIM:608794; AllianceGenome:HGNC:9003
Gene type
protein coding
RefSeq status
VALIDATED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
Rd9; NIR2; RDGB; DRES9; RDGB1; RDGBA; PITPNM; RDGBA1
Summary
PITPNM1 belongs to a family of membrane-associated phosphatidylinositol transfer domain-containing proteins that share homology with the Drosophila retinal degeneration B (rdgB) protein (Ocaka et al., 2005 [PubMed 15627748]).[supplied by OMIM, Mar 2008]
Expression
Ubiquitous expression in spleen (RPKM 10.5), lymph node (RPKM 9.7) and 24 other tissues See more
Orthologs
mouse all
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Genomic context

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Location:
11q13.2
Exon count:
31
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 11 NC_000011.10 (67491768..67506266, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 11 NC_060935.1 (67485895..67500943, complement)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 11 NC_000011.9 (67259239..67272834, complement)

Chromosome 11 - NC_000011.10Genomic Context describing neighboring genes Neighboring gene calcium binding protein 4 Neighboring gene transmembrane protein 134 Neighboring gene H3K27ac hESC enhancer GRCh37_chr11:67236334-67236958 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5104 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr11:67244852-67245402 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5105 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5106 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:67253051-67254024 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5107 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5108 Neighboring gene aryl hydrocarbon receptor interacting protein Neighboring gene microRNA 6752 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:67270543-67271292 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:67271293-67272042 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3641 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3642 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3643 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3644 Neighboring gene cyclin dependent kinase 2 associated protein 2 Neighboring gene calcium binding protein 2

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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Related articles in PubMed

  1. Attenuation of PITPNM1 Signaling Cascade Can Inhibit Breast Cancer Progression. Liu Z, et al. Biomolecules, 2021 Aug 25. PMID 34572478, Free PMC Article
  2. Nir2 Is an Effector of VAPs Necessary for Efficient Hepatitis C Virus Replication and Phosphatidylinositol 4-Phosphate Enrichment at the Viral Replication Organelle. Wang H, et al. J Virol, 2019 Nov 15. PMID 31484747, Free PMC Article
  3. Phosphatidylinositol 4,5-Bisphosphate Homeostasis Regulated by Nir2 and Nir3 Proteins at Endoplasmic Reticulum-Plasma Membrane Junctions. Chang CL, et al. J Biol Chem, 2015 Jun 5. PMID 25887399, Free PMC Article
  4. Feedback regulation of receptor-induced Ca2+ signaling mediated by E-Syt1 and Nir2 at endoplasmic reticulum-plasma membrane junctions. Chang CL, et al. Cell Rep, 2013 Nov 14. PMID 24183667
  5. The phosphatidylinositol-transfer protein Nir2 binds phosphatidic acid and positively regulates phosphoinositide signalling. Kim S, et al. EMBO Rep, 2013 Oct. PMID 23897088, Free PMC Article

See all (37) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Attenuation of PITPNM1 Signaling Cascade Can Inhibit Breast Cancer Progression.
    Title: Attenuation of PITPNM1 Signaling Cascade Can Inhibit Breast Cancer Progression.
  2. Authors found that the phosphatidylinositol transfer protein Nir2 acts as an LTP and may replenish PI at the HCV RO by interacting with VAMP-associated proteins (VAPs), enabling continuous viral replication during chronic infection.
    Title: Nir2 Is an Effector of VAPs Necessary for Efficient Hepatitis C Virus Replication and Phosphatidylinositol 4-Phosphate Enrichment at the Viral Replication Organelle.
  3. 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.
  4. Phosphatidic acid production triggers Phosphatidylinositol 4,5-Bisphosphate replenishment mediated by Nir2 and Nir3 at endoplasmic reticulum-plasma membrane junctions.
    Title: Phosphatidylinositol 4,5-Bisphosphate Homeostasis Regulated by Nir2 and Nir3 Proteins at Endoplasmic Reticulum-Plasma Membrane Junctions.
  5. Nir2 translocates from the Golgi complex to the plasma membrane in response to GF stimulation.
    Title: The phosphatidylinositol-transfer protein Nir2 binds phosphatidic acid and positively regulates phosphoinositide signalling.
  6. Results suggest a feedback mechanism that replenishes PM PIP2 during receptor-induced Ca(2+) signaling via the Ca(2+) effector E-Syt1 and the PITP Nir2 at ER-PM junctions.
    Title: Feedback regulation of receptor-induced Ca2+ signaling mediated by E-Syt1 and Nir2 at endoplasmic reticulum-plasma membrane junctions.
  7. A specific Thr residue in the Nir2 PI-transfer domain provides a regulatory site for targeting to lipid droplets. This may affect intracellular lipid trafficking & distribution & explain the dominant effect of the RdgB-T59E mutant on retinal degeneration.
    Title: Targeting of Nir2 to lipid droplets is regulated by a specific threonine residue within its PI-transfer domain.
  8. Nir2 is involved in maintaining a critical DAG pool in the Golgi apparatus by regulating its consumption via the CDP-choline pathway
    Title: Maintenance of the diacylglycerol level in the Golgi apparatus by the Nir2 protein is critical for Golgi secretory function.
  9. Phosphorylation of Nir2 by Cdk1 facilitates its dissociation from the Golgi apparatus, and phospho-Nir2 is localized in the cleavage furrow and midbody during cytokinesis.
    Title: Mitotic phosphorylation of the peripheral Golgi protein Nir2 by Cdk1 provides a docking mechanism for Plk1 and affects cytokinesis completion.
  10. Nir2, a human homolog of Drosophila melanogaster retinal degeneration B protein, is essential for cytokinesis.
    Title: Nir2, a human homolog of Drosophila melanogaster retinal degeneration B protein, is essential for cytokinesis.
Submit: New GeneRIF Correction See all GeneRIFs (11)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Clone Names

  • FLJ44997

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables calcium ion binding IDA
Inferred from Direct Assay
more info
 PubMed 
enables phosphatidic acid binding IDA
Inferred from Direct Assay
more info
 PubMed 
enables phosphatidylcholine binding IBA
Inferred from Biological aspect of Ancestor
more info
  
enables phosphatidylcholine binding IDA
Inferred from Direct Assay
more info
 PubMed 
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 IDA
Inferred from Direct Assay
more info
 PubMed 
enables phosphatidylinositol transfer activity IBA
Inferred from Biological aspect of Ancestor
more info
  
enables phosphatidylinositol transfer activity IDA
Inferred from Direct Assay
more info
 PubMed 
enables phosphatidylinositol transfer activity TAS
Traceable Author Statement
more info
  
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
enables receptor tyrosine kinase binding IMP
Inferred from Mutant Phenotype
more info
 PubMed 
Process Evidence Code Pubs
involved_in brain development TAS
Traceable Author Statement
more info
 PubMed 
involved_in intermembrane lipid transfer IEA
Inferred from Electronic Annotation
more info
  
involved_in lipid metabolic process NAS
Non-traceable Author Statement
more info
 PubMed 
involved_in phosphatidylinositol biosynthetic process TAS
Traceable Author Statement
more info
  
involved_in phospholipid transport IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in phototransduction TAS
Traceable Author Statement
more info
 PubMed 
involved_in protein transport IEA
Inferred from Electronic Annotation
more info
  
Component Evidence Code Pubs
located_in Golgi cisterna membrane IEA
Inferred from Electronic Annotation
more info
  
located_in cell body ISS
Inferred from Sequence or Structural Similarity
more info
  
located_in cleavage furrow IEA
Inferred from Electronic Annotation
more info
  
is_active_in cytoplasm IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in cytosol IDA
Inferred from Direct Assay
more info
  
located_in cytosol TAS
Traceable Author Statement
more info
  
located_in endoplasmic reticulum membrane IEA
Inferred from Electronic Annotation
more info
  
located_in intracellular membrane-bounded organelle IDA
Inferred from Direct Assay
more info
  
located_in lipid droplet IEA
Inferred from Electronic Annotation
more info
  
located_in membrane TAS
Traceable Author Statement
more info
 PubMed 
located_in midbody IEA
Inferred from Electronic Annotation
more info
  

General protein information

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Preferred Names
membrane-associated phosphatidylinositol transfer protein 1
Names
NIR-2
PITPnm 1
PYK2 N-terminal domain-interacting receptor 2
drosophila retinal degeneration B homolog
retinal degeneration B alpha 1

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)

  1. NM_001130848.2 → NP_001124320.1  membrane-associated phosphatidylinositol transfer protein 1 isoform b

    See identical proteins and their annotated locations for NP_001124320.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) uses an alternate in-frame splice site at the end of an exon compared to variant 1. The resulting isoform (b) has the same N- and C-termini but is 1 aa shorter compared to isoform a.
    Source sequence(s)
    AA465501, AK312886, BC022230, X98654
    Consensus CDS
    CCDS44659.1
    UniProtKB/TrEMBL
    B2R787
    Related
    ENSP00000398787.2, ENST00000436757.6
    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:689 → 878
    DDHD; DDHD domain
    cl21470
    Location:963 → 1027
    Peptidase_M14NE-CP-C_like; Peptidase associated domain: C-terminal domain of M14 N/E carboxypeptidase; putative folding, regulation, or interaction domain

  2. NM_004910.3 → NP_004901.2  membrane-associated phosphatidylinositol transfer protein 1 isoform a

    See identical proteins and their annotated locations for NP_004901.2

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (a).
    Source sequence(s)
    AA465501, AF334584, AK312886, DA318858, X98654
    Consensus CDS
    CCDS31620.1
    UniProtKB/Swiss-Prot
    A6NME4, O00562, Q6T7X3, Q8TBN3, Q9BZ73
    UniProtKB/TrEMBL
    B2R787
    Related
    ENSP00000348772.3, ENST00000356404.8
    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:1023 → 1154
    LNS2; This domain is found in Saccharomyces cerevisiae protein SMP2, proteins with an N-terminal lipin domain and phosphatidylinositol transfer proteins
    pfam02862
    Location:689 → 879
    DDHD; DDHD domain
    cl21470
    Location:964 → 1028
    Peptidase_M14NE-CP-C_like; Peptidase associated domain: C-terminal domain of M14 N/E carboxypeptidase; putative folding, regulation, or interaction domain

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000011.10 Reference GRCh38.p14 Primary Assembly

    Range
    67491768..67506266 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_047427907.1 → XP_047283863.1  membrane-associated phosphatidylinositol transfer protein 1 isoform X1

    UniProtKB/Swiss-Prot
    A6NME4, O00562, Q6T7X3, Q8TBN3, Q9BZ73

  2. XM_047427911.1 → XP_047283867.1  membrane-associated phosphatidylinositol transfer protein 1 isoform X4

  3. XM_047427905.1 → XP_047283861.1  membrane-associated phosphatidylinositol transfer protein 1 isoform X1

    UniProtKB/Swiss-Prot
    A6NME4, O00562, Q6T7X3, Q8TBN3, Q9BZ73

  4. XM_047427909.1 → XP_047283865.1  membrane-associated phosphatidylinositol transfer protein 1 isoform X2

  5. XM_011545396.4 → XP_011543698.1  membrane-associated phosphatidylinositol transfer protein 1 isoform X3

    UniProtKB/TrEMBL
    B2R787
    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 → 1027
    Peptidase_M14NE-CP-C_like; Peptidase associated domain: C-terminal domain of M14 N/E carboxypeptidase; putative folding, regulation, or interaction domain

  6. XM_047427908.1 → XP_047283864.1  membrane-associated phosphatidylinositol transfer protein 1 isoform X2

  7. XM_017018586.2 → XP_016874075.1  membrane-associated phosphatidylinositol transfer protein 1 isoform X1

    UniProtKB/Swiss-Prot
    A6NME4, O00562, Q6T7X3, Q8TBN3, Q9BZ73
    UniProtKB/TrEMBL
    B2R787
    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:1023 → 1154
    LNS2; This domain is found in Saccharomyces cerevisiae protein SMP2, proteins with an N-terminal lipin domain and phosphatidylinositol transfer proteins
    pfam02862
    Location:689 → 879
    DDHD; DDHD domain
    cl21470
    Location:964 → 1028
    Peptidase_M14NE-CP-C_like; Peptidase associated domain: C-terminal domain of M14 N/E carboxypeptidase; putative folding, regulation, or interaction domain

  8. XM_047427910.1 → XP_047283866.1  membrane-associated phosphatidylinositol transfer protein 1 isoform X2

  9. XM_047427906.1 → XP_047283862.1  membrane-associated phosphatidylinositol transfer protein 1 isoform X1

    UniProtKB/Swiss-Prot
    A6NME4, O00562, Q6T7X3, Q8TBN3, Q9BZ73
    Related
    ENSP00000437286.1, ENST00000534749.5

  10. XM_047427913.1 → XP_047283869.1  membrane-associated phosphatidylinositol transfer protein 1 isoform X6

  11. XM_047427912.1 → XP_047283868.1  membrane-associated phosphatidylinositol transfer protein 1 isoform X5

  12. XM_047427915.1 → XP_047283871.1  membrane-associated phosphatidylinositol transfer protein 1 isoform X8

  13. XM_047427914.1 → XP_047283870.1  membrane-associated phosphatidylinositol transfer protein 1 isoform X7

  14. XM_047427916.1 → XP_047283872.1  membrane-associated phosphatidylinositol transfer protein 1 isoform X9

  15. XM_047427918.1 → XP_047283874.1  membrane-associated phosphatidylinositol transfer protein 1 isoform X11

  16. XM_047427917.1 → XP_047283873.1  membrane-associated phosphatidylinositol transfer protein 1 isoform X10

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060935.1 Alternate T2T-CHM13v2.0

    Range
    67485895..67500943 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054370588.1 → XP_054226563.1  membrane-associated phosphatidylinositol transfer protein 1 isoform X1

    UniProtKB/Swiss-Prot
    A6NME4, O00562, Q6T7X3, Q8TBN3, Q9BZ73

  2. XM_054370594.1 → XP_054226569.1  membrane-associated phosphatidylinositol transfer protein 1 isoform X4

  3. XM_054370586.1 → XP_054226561.1  membrane-associated phosphatidylinositol transfer protein 1 isoform X1

    UniProtKB/Swiss-Prot
    A6NME4, O00562, Q6T7X3, Q8TBN3, Q9BZ73

  4. XM_054370591.1 → XP_054226566.1  membrane-associated phosphatidylinositol transfer protein 1 isoform X2

  5. XM_054370593.1 → XP_054226568.1  membrane-associated phosphatidylinositol transfer protein 1 isoform X3

  6. XM_054370590.1 → XP_054226565.1  membrane-associated phosphatidylinositol transfer protein 1 isoform X2

  7. XM_054370589.1 → XP_054226564.1  membrane-associated phosphatidylinositol transfer protein 1 isoform X1

    UniProtKB/Swiss-Prot
    A6NME4, O00562, Q6T7X3, Q8TBN3, Q9BZ73

  8. XM_054370592.1 → XP_054226567.1  membrane-associated phosphatidylinositol transfer protein 1 isoform X2

  9. XM_054370587.1 → XP_054226562.1  membrane-associated phosphatidylinositol transfer protein 1 isoform X1

    UniProtKB/Swiss-Prot
    A6NME4, O00562, Q6T7X3, Q8TBN3, Q9BZ73

  10. XM_054370596.1 → XP_054226571.1  membrane-associated phosphatidylinositol transfer protein 1 isoform X6

  11. XM_054370595.1 → XP_054226570.1  membrane-associated phosphatidylinositol transfer protein 1 isoform X5

  12. XM_054370598.1 → XP_054226573.1  membrane-associated phosphatidylinositol transfer protein 1 isoform X8

  13. XM_054370597.1 → XP_054226572.1  membrane-associated phosphatidylinositol transfer protein 1 isoform X7

  14. XM_054370599.1 → XP_054226574.1  membrane-associated phosphatidylinositol transfer protein 1 isoform X9

  15. XM_054370601.1 → XP_054226576.1  membrane-associated phosphatidylinositol transfer protein 1 isoform X11

  16. XM_054370600.1 → XP_054226575.1  membrane-associated phosphatidylinositol transfer protein 1 isoform X10

Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
O00562.4 GenPept UniProtKB/Swiss-Prot:O00562

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