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

    Gene ID: 9600, updated on 10-Dec-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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    See PITPNM1 in Genome Data Viewer
    Location:
    11q13.2
    Exon count:
    31
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 11 NC_000011.10 (67491768..67506266, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 11 NC_060935.1 (67485895..67500943, complement)
    RS_2024_09 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. Targeting of Nir2 to lipid droplets is regulated by a specific threonine residue within its PI-transfer domain. Litvak V, et al. Curr Biol, 2002 Sep 3. PMID 12225667
    2. 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
    3. Attenuation of PITPNM1 Signaling Cascade Can Inhibit Breast Cancer Progression. Liu Z, et al. Biomolecules, 2021 Aug 25. PMID 34572478, 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. 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

    See all (39) 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)

    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, ENST00000436757.7
      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_2024_08

    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
      UniProtKB/TrEMBL
      B2R787

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

      UniProtKB/TrEMBL
      B2R787

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

      UniProtKB/Swiss-Prot
      A6NME4, O00562, Q6T7X3, Q8TBN3, Q9BZ73
      UniProtKB/TrEMBL
      B2R787

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

      UniProtKB/TrEMBL
      B2R787

    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

      UniProtKB/TrEMBL
      B2R787

    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

      UniProtKB/TrEMBL
      B2R787

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

      UniProtKB/Swiss-Prot
      A6NME4, O00562, Q6T7X3, Q8TBN3, Q9BZ73
      UniProtKB/TrEMBL
      B2R787
      Related
      ENSP00000437286.1, ENST00000534749.5

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

      UniProtKB/TrEMBL
      B2R787

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

      UniProtKB/TrEMBL
      B2R787

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

      UniProtKB/TrEMBL
      B2R787

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

      UniProtKB/TrEMBL
      B2R787

    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
      UniProtKB/TrEMBL
      B2R787

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

      UniProtKB/TrEMBL
      B2R787

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

      UniProtKB/Swiss-Prot
      A6NME4, O00562, Q6T7X3, Q8TBN3, Q9BZ73
      UniProtKB/TrEMBL
      B2R787

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

      UniProtKB/TrEMBL
      B2R787

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

      UniProtKB/TrEMBL
      B2R787

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

      UniProtKB/TrEMBL
      B2R787

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

      UniProtKB/Swiss-Prot
      A6NME4, O00562, Q6T7X3, Q8TBN3, Q9BZ73
      UniProtKB/TrEMBL
      B2R787

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

      UniProtKB/TrEMBL
      B2R787

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

      UniProtKB/Swiss-Prot
      A6NME4, O00562, Q6T7X3, Q8TBN3, Q9BZ73
      UniProtKB/TrEMBL
      B2R787

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

      UniProtKB/TrEMBL
      B2R787

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

      UniProtKB/TrEMBL
      B2R787

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

      UniProtKB/TrEMBL
      B2R787

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

      UniProtKB/TrEMBL
      B2R787

    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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