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 

Page IndexSequence and LinksUniProtKB CommentsPrimersMalaCardsCTD
RNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther SpeciesGO Annotations
mRNA DescriptionsPathwaysOther NamesMethods
Data last updated at UCSC: 2023-08-18 00:09:47

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr11:67,491,768-67,505,363)mRNA (may differ from genome)Protein (1244 aa)
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OMIMPubMedReactomeUniProtKBWikipediaBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  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.

-  Primer design for this transcript
 

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Click here to load the transcript sequence and exon structure into Primer3Plus

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To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  MalaCards Disease Associations
  MalaCards Gene Search: PITPNM1
Diseases sorted by gene-association score: retinal degeneration (28), hypopyon (11), achromatopsia 2 (7)

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 29.28 RPKM in Brain - Cerebellum
Total median expression: 582.15 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -136.20217-0.628 Picture PostScript Text
3' UTR -124.40265-0.469 Picture PostScript Text

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.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR004177 - DDHD
IPR023214 - HAD-like_dom
IPR013209 - LNS2
IPR001666 - PI_transfer
IPR023393 - START-like_dom

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.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
Genome BrowserGenome BrowserNo orthologNo orthologNo orthologNo ortholog
Gene Details     
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Protein SequenceProtein Sequence    
AlignmentAlignment    

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0005509 calcium ion binding
GO:0005515 protein binding
GO:0005548 phospholipid transporter activity
GO:0008526 phosphatidylinositol transporter activity
GO:0030971 receptor tyrosine kinase binding
GO:0031210 phosphatidylcholine binding
GO:0035091 phosphatidylinositol binding
GO:0046872 metal ion binding
GO:0070300 phosphatidic acid binding

Biological Process:
GO:0006629 lipid metabolic process
GO:0006661 phosphatidylinositol biosynthetic process
GO:0007420 brain development
GO:0007602 phototransduction
GO:0015031 protein transport
GO:0015914 phospholipid transport

Cellular Component:
GO:0005622 intracellular
GO:0005737 cytoplasm
GO:0005783 endoplasmic reticulum
GO:0005789 endoplasmic reticulum membrane
GO:0005794 Golgi apparatus
GO:0005811 lipid particle
GO:0005815 microtubule organizing center
GO:0005829 cytosol
GO:0016020 membrane
GO:0030496 midbody
GO:0032154 cleavage furrow
GO:0032580 Golgi cisterna membrane
GO:0036464 cytoplasmic ribonucleoprotein granule
GO:0044297 cell body


-  Descriptions from all associated GenBank mRNAs
  X98654 - H.sapiens mRNA for DRES9 protein.
BC022230 - Homo sapiens phosphatidylinositol transfer protein, membrane-associated 1, mRNA (cDNA clone MGC:21235 IMAGE:4396491), complete cds.
AF334584 - Homo sapiens NIR2 mRNA, complete cds.
AY429102 - Homo sapiens phosphatidylinositol transfer protein membrane-associated 1 (PITPNM1) mRNA, complete cds.
AK312886 - Homo sapiens cDNA, FLJ93330, highly similar to Homo sapiens phosphatidylinositol transfer protein, membrane-associated 1 (PITPNM1), mRNA.
DQ891183 - Synthetic construct clone IMAGE:100003813; FLH169929.01X; RZPDo839H0996D phosphatidylinositol transfer protein, membrane-associated 1 (PITPNM1) gene, encodes complete protein.
EU176563 - Synthetic construct Homo sapiens clone IMAGE:100011380; FLH169928.01L; RZPDo839C11253D phosphatidylinositol transfer protein, membrane-associated 1 (PITPNM1) gene, encodes complete protein.
AK126944 - Homo sapiens cDNA FLJ44997 fis, clone BRAWH3010726, highly similar to Membrane-associated phosphatidylinositol transfer protein 1.
JD481634 - Sequence 462658 from Patent EP1572962.
JD218331 - Sequence 199355 from Patent EP1572962.
JD129499 - Sequence 110523 from Patent EP1572962.

-  Biochemical and Signaling Pathways
  Reactome (by CSHL, EBI, and GO)

Protein O00562 (Reactome details) participates in the following event(s):

R-HSA-8869241 PITPNM1,2,3 exchange PI for PA
R-HSA-1483226 Synthesis of PI
R-HSA-1483206 Glycerophospholipid biosynthesis
R-HSA-1483257 Phospholipid metabolism
R-HSA-556833 Metabolism of lipids
R-HSA-1430728 Metabolism

-  Other Names for This Gene
  Alternate Gene Symbols: A6NME4, DRES9, ENST00000356404.1, ENST00000356404.2, ENST00000356404.3, ENST00000356404.4, ENST00000356404.5, ENST00000356404.6, ENST00000356404.7, NIR2, NM_004910, O00562, PITM1_HUMAN, PITPNM, Q6T7X3, Q8TBN3, Q9BZ73, uc001oly.1, uc001oly.2, uc001oly.3, uc001oly.4, uc001oly.5
UCSC ID: ENST00000356404.8
RefSeq Accession: NM_004910
Protein: O00562 (aka PITM1_HUMAN)
CCDS: CCDS31620.1, CCDS44659.1

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.