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

    Gene ID: 9600, updated on 13-Feb-2019

    Summary

    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
    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

    Genomic context

    See PITPNM1 in Genome Data Viewer
    Location:
    11q13.2
    Exon count:
    25
    Annotation release Status Assembly Chr Location
    109 current GRCh38.p12 (GCF_000001405.38) 11 NC_000011.10 (67491760..67505372, complement)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 11 NC_000011.9 (67259231..67272843, complement)

    Chromosome 11 - NC_000011.10Genomic Context describing neighboring genes Neighboring gene transmembrane protein 134 Neighboring gene aryl hydrocarbon receptor interacting protein Neighboring gene microRNA 6752 Neighboring gene cyclin dependent kinase 2 associated protein 2 Neighboring gene calcium binding protein 2

    Genomic regions, transcripts, and products

    Expression

    • 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

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    Pathways from BioSystems

    • Glycerophospholipid biosynthesis, organism-specific biosystem (from REACTOME)
      Glycerophospholipid biosynthesis, organism-specific biosystemGlycerophospholipids are important structural and functional components of biological membranes and constituents of serum lipoproteins and the pulmonary surfactant. In addition, glycerophospholipids...
    • Metabolism, organism-specific biosystem (from REACTOME)
      Metabolism, organism-specific biosystemMetabolic processes in human cells generate energy through the oxidation of molecules consumed in the diet and mediate the synthesis of diverse essential molecules not taken in the diet as well as th...
    • Metabolism of lipids and lipoproteins, organism-specific biosystem (from REACTOME)
      Metabolism of lipids and lipoproteins, organism-specific biosystemLipids are hydrophobic but otherwise chemically diverse molecules that play a wide variety of roles in human biology. They include ketone bodies, fatty acids, triacylglycerols, phospholipids and sphi...
    • Phospholipid metabolism, organism-specific biosystem (from REACTOME)
      Phospholipid metabolism, organism-specific biosystemPhospholipids contain a polar head group and two long-chain fatty acyl moieties, one of which is generally unsaturated. The head group is a glycerol or serine phosphate attached to a polar group such...
    • Synthesis of PI, organism-specific biosystem (from REACTOME)
      Synthesis of PI, organism-specific biosystemPhosphatidylinositol (PI) is synthesized when phosphatidic acid (PA) and cytidine triphosphate (CTP) are converted into cytidine diphosphate-diacylglycerol (CDP-DAG) followed by conversion into PI an...

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Homology

    Clone Names

    • FLJ44997

    Gene Ontology Provided by GOA

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

    General protein information

    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)

    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_001130848.1NP_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, DA318858, X98654
      Consensus CDS
      CCDS44659.1
      UniProtKB/Swiss-Prot
      O00562
      UniProtKB/TrEMBL
      B2R787
      Related
      ENSP00000398787.2, ENST00000436757.6
      Conserved Domains (4) summary
      cd08889
      Location:1257
      SRPBCC_PITPNM1-2_like; Lipid-binding SRPBCC domain of mammalian PITPNM1-2 and related proteins (Class IIA PITPs)
      smart00775
      Location:10221153
      LNS2; This domain is found in Saccharomyces cerevisiae protein SMP2, proteins with an N-terminal lipin domain and phosphatidylinositol transfer proteins
      pfam02862
      Location:689878
      DDHD; DDHD domain
      cl21470
      Location:9631027
      Peptidase_M14NE-CP-C_like; Peptidase associated domain: C-terminal domain of M14 N/E carboxypeptidase; putative folding, regulation, or interaction domain
    2. NM_004910.3NP_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
      O00562
      UniProtKB/TrEMBL
      A0A024R5I7, B2R787
      Related
      ENSP00000348772.3, ENST00000356404.7
      Conserved Domains (4) summary
      cd08889
      Location:1257
      SRPBCC_PITPNM1-2_like; Lipid-binding SRPBCC domain of mammalian PITPNM1-2 and related proteins (Class IIA PITPs)
      smart00775
      Location:10231154
      LNS2; This domain is found in Saccharomyces cerevisiae protein SMP2, proteins with an N-terminal lipin domain and phosphatidylinositol transfer proteins
      pfam02862
      Location:689879
      DDHD; DDHD domain
      cl21470
      Location:9641028
      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: Homo sapiens Annotation Release 109

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

    Reference GRCh38.p12 Primary Assembly

    Genomic

    1. NC_000011.10 Reference GRCh38.p12 Primary Assembly

      Range
      67491760..67505372 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011545396.3XP_011543698.1  membrane-associated phosphatidylinositol transfer protein 1 isoform X2

      Conserved Domains (4) summary
      cd08889
      Location:1257
      SRPBCC_PITPNM1-2_like; Lipid-binding SRPBCC domain of mammalian PITPNM1-2 and related proteins (Class IIA PITPs)
      smart00775
      Location:10221153
      LNS2; This domain is found in Saccharomyces cerevisiae protein SMP2, proteins with an N-terminal lipin domain and phosphatidylinositol transfer proteins
      pfam02862
      Location:688878
      DDHD; DDHD domain
      cl21470
      Location:9631027
      Peptidase_M14NE-CP-C_like; Peptidase associated domain: C-terminal domain of M14 N/E carboxypeptidase; putative folding, regulation, or interaction domain
    2. XM_017018586.1XP_016874075.1  membrane-associated phosphatidylinositol transfer protein 1 isoform X1

      UniProtKB/Swiss-Prot
      O00562
      UniProtKB/TrEMBL
      A0A024R5I7
      Conserved Domains (4) summary
      cd08889
      Location:1257
      SRPBCC_PITPNM1-2_like; Lipid-binding SRPBCC domain of mammalian PITPNM1-2 and related proteins (Class IIA PITPs)
      smart00775
      Location:10231154
      LNS2; This domain is found in Saccharomyces cerevisiae protein SMP2, proteins with an N-terminal lipin domain and phosphatidylinositol transfer proteins
      pfam02862
      Location:689879
      DDHD; DDHD domain
      cl21470
      Location:9641028
      Peptidase_M14NE-CP-C_like; Peptidase associated domain: C-terminal domain of M14 N/E carboxypeptidase; putative folding, regulation, or interaction domain

    RNA

    1. XR_002957211.1 RNA Sequence

    2. XR_002957210.1 RNA Sequence

    3. XR_001748048.2 RNA Sequence

    4. XR_950112.3 RNA Sequence

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