Human Gene PITPNM1 (ENST00000356404.8) from GENCODE V44
Description: Homo sapiens phosphatidylinositol transfer protein membrane associated 1 (PITPNM1), transcript variant 1, mRNA. (from RefSeq NM_004910) RefSeq Summary (NM_004910): 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]. Gencode Transcript: ENST00000356404.8 Gencode Gene: ENSG00000110697.13 Transcript (Including UTRs) Position: hg38 chr11:67,491,768-67,505,363 Size: 13,596 Total Exon Count: 24 Strand: - Coding Region Position: hg38 chr11:67,492,033-67,504,180 Size: 12,148 Coding Exon Count: 23
ID:PITM1_HUMAN DESCRIPTION: RecName: Full=Membrane-associated phosphatidylinositol transfer protein 1; AltName: Full=Drosophila retinal degeneration B homolog; AltName: Full=Phosphatidylinositol transfer protein, membrane-associated 1; Short=PITPnm 1; AltName: Full=Pyk2 N-terminal domain-interacting receptor 2; Short=NIR-2; FUNCTION: Regulates RHOA activity, and plays a role in cytoskeleton remodeling. Necessary for normal completion of cytokinesis. Plays a role in maintaining normal diacylglycerol levels in the Golgi apparatus. Binds phosphatidyl inositol phosphates (in vitro). May catalyze the transfer of phosphatidylinositol and phosphatidylcholine between membranes (By similarity). Necessary for maintaining the normal structure of the endoplasmic reticulum and the Golgi apparatus. Required for protein export from the endoplasmic reticulum and the Golgi. Binds calcium ions. SUBUNIT: Interacts with PIK4CA (By similarity). Interacts with PTK2B via its C-terminus. Interacts with RHOA. Has higher affinity for the inactive, GDP-bound form of RHOA. The CDK1-phosphorylated form interacts with PLK1. Interacts with VAPB. SUBCELLULAR LOCATION: Cytoplasm. Golgi apparatus, Golgi stack membrane; Peripheral membrane protein. Endoplasmic reticulum membrane; Peripheral membrane protein. Lipid droplet. Cleavage furrow. Midbody. Note=Peripheral membrane protein associated with Golgi stacks in interphase cells. A minor proportion is associated with the endoplasmic reticulum. Associated with lipid droplets. Dissociates from the Golgi early on in mitosis and localizes to the cleavage furrow and midbody during cytokinesis. TISSUE SPECIFICITY: Ubiquitous. PTM: Phosphorylated on multiple sites by CDK1 at the onset of mitosis. Phosphorylation facilitates dissociation from the Golgi complex and is required for interaction with PLK1. PTM: Phosphorylated on threonine residues upon treatment with oleic acid. PTM: Phosphorylated on tyrosine residues by PTK2B. SIMILARITY: Belongs to the PtdIns transfer protein family. PI transfer class IIA subfamily. SIMILARITY: Contains 1 DDHD domain.
The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.
Pfam Domains: PF02862 - DDHD domain PF02121 - Phosphatidylinositol transfer protein PF08235 - LNS2 (Lipin/Ned1/Smp2)
ModBase Predicted Comparative 3D Structure on O00562
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Orthologous Genes in Other Species
Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.