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Aliases for PITPNM1 Gene

Aliases for PITPNM1 Gene

  • Phosphatidylinositol Transfer Protein Membrane Associated 1 2 3 5
  • PYK2 N-Terminal Domain-Interacting Receptor 2 2 3 4
  • Drosophila Retinal Degeneration B Homolog 3 4
  • Retinal Degeneration B Alpha 1 2 3
  • PITPnm 1 3 4
  • PITPNM 3 4
  • DRES9 3 4
  • NIR-2 3 4
  • NIR2 3 4
  • Phosphatidylinositol Transfer Protein, Membrane Associated 1 2
  • Phosphatidylinositol Transfer Protein, Membrane-Associated 1 4
  • Membrane-Associated Phosphatidylinositol Transfer Protein 1 3
  • RDGBA1 3
  • RDGB1 3
  • RDGBA 3
  • RDGB 3
  • Rd9 3

External Ids for PITPNM1 Gene

Previous HGNC Symbols for PITPNM1 Gene

  • PITPNM

Previous GeneCards Identifiers for PITPNM1 Gene

  • GC11M067509
  • GC11M067034
  • GC11M067015
  • GC11M067260
  • GC11M063588

Summaries for PITPNM1 Gene

Entrez Gene Summary for PITPNM1 Gene

  • 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]

GeneCards Summary for PITPNM1 Gene

PITPNM1 (Phosphatidylinositol Transfer Protein Membrane Associated 1) is a Protein Coding gene. Diseases associated with PITPNM1 include Retinal Degeneration and Hypopyon. Among its related pathways are Glycerophospholipid biosynthesis and Metabolism. GO annotations related to this gene include phosphatidylinositol transporter activity. An important paralog of this gene is PITPNM2.

UniProtKB/Swiss-Prot for PITPNM1 Gene

  • 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.

Gene Wiki entry for PITPNM1 Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for PITPNM1 Gene

Genomics for PITPNM1 Gene

Regulatory Elements for PITPNM1 Gene

Enhancers for PITPNM1 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH11G067265 1.8 FANTOM5 ENCODE dbSUPER 5.1 +227.8 227799 25.5 CREB3L1 MLX AGO1 ZFP64 DMAP1 YBX1 FEZF1 YY1 SLC30A9 ZNF143 SSH3 ENSG00000258297 GRK2 KDM2A ANKRD13D RBM14 PTPRCAP MRPL11 RHOD CARNS1
GH11G067077 1.8 FANTOM5 Ensembl ENCODE dbSUPER 1.1 +427.9 427922 2.5 TBP SREBF2 AGO1 KLF17 BRCA1 EGR1 ZNF366 FOS DEK EGR2 RHOD KDM2A ANKRD13D CDK2AP2 GRK2 RBM4 CLCF1 SSH3 TMEM134 PITPNM1
GH11G067503 1.4 ENCODE dbSUPER 0.7 -1.4 -1419 7.4 CREB3L1 AGO1 DMAP1 YY1 ZNF143 ZNF263 SP3 NFYC MEF2D ZNF610 CTSF CDK2AP2 PTPRCAP PITPNM1
GH11G067502 0.6 dbSUPER 0.7 +3.6 3645 0.7 NR2F2 ZNF366 IKZF1 ZNF341 EED RELB FOXP2 PRDM1 RBFOX2 ZBTB17 PITPNM1 MIR6752
GH11G067497 0.9 dbSUPER 0.4 +7.6 7609 1.5 HDGF RB1 FUS AGO1 SREBF2 ARID4B SIN3A DMAP1 RAD21 YY1 ACY3 MIR6752 PITPNM1
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around PITPNM1 on UCSC Golden Path with GeneCards custom track

Promoters for PITPNM1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000041119 1563 1401 HDGF AGO1 SIN3A ZNF2 GLIS2 ZNF263 SP3 GLIS1 NBN SP7

Genomic Location for PITPNM1 Gene

Chromosome:
11
Start:
67,491,767 bp from pter
End:
67,506,263 bp from pter
Size:
14,497 bases
Orientation:
Minus strand

Genomic View for PITPNM1 Gene

Genes around PITPNM1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
PITPNM1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for PITPNM1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for PITPNM1 Gene

Proteins for PITPNM1 Gene

  • Protein details for PITPNM1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    O00562-PITM1_HUMAN
    Recommended name:
    Membrane-associated phosphatidylinositol transfer protein 1
    Protein Accession:
    O00562
    Secondary Accessions:
    • A6NME4
    • Q6T7X3
    • Q8TBN3
    • Q9BZ73

    Protein attributes for PITPNM1 Gene

    Size:
    1244 amino acids
    Molecular mass:
    134848 Da
    Quaternary structure:
    • 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.

    Alternative splice isoforms for PITPNM1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for PITPNM1 Gene

Post-translational modifications for PITPNM1 Gene

  • 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.
  • Phosphorylated on threonine residues upon treatment with oleic acid.
  • Phosphorylated on tyrosine residues by PTK2B.
  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for PITPNM1 Gene

Domains & Families for PITPNM1 Gene

Gene Families for PITPNM1 Gene

Suggested Antigen Peptide Sequences for PITPNM1 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

O00562

UniProtKB/Swiss-Prot:

PITM1_HUMAN :
  • Belongs to the PtdIns transfer protein family. PI transfer class IIA subfamily.
Family:
  • Belongs to the PtdIns transfer protein family. PI transfer class IIA subfamily.
genes like me logo Genes that share domains with PITPNM1: view

Function for PITPNM1 Gene

Molecular function for PITPNM1 Gene

UniProtKB/Swiss-Prot 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.

Gene Ontology (GO) - Molecular Function for PITPNM1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 25416956
GO:0008526 phosphatidylinositol transporter activity IDA,TAS --
GO:0031210 phosphatidylcholine binding IDA 22822086
GO:0035091 phosphatidylinositol binding IDA 22822086
GO:0046872 metal ion binding IEA --
genes like me logo Genes that share ontologies with PITPNM1: view
genes like me logo Genes that share phenotypes with PITPNM1: view

Animal Models for PITPNM1 Gene

MGI Knock Outs for PITPNM1:

Animal Model Products

CRISPR Products

miRNA for PITPNM1 Gene

miRTarBase miRNAs that target PITPNM1

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for PITPNM1 Gene

Localization for PITPNM1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for PITPNM1 Gene

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 (PubMed:12225667). Dissociates from the Golgi early on in mitosis and localizes to the cleavage furrow and midbody during cytokinesis (PubMed:15125835). {ECO:0000269 PubMed:12225667, ECO:0000269 PubMed:15125835}.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for PITPNM1 gene
Compartment Confidence
cytosol 5
endoplasmic reticulum 4
golgi apparatus 4
plasma membrane 2
mitochondrion 1
peroxisome 1
nucleus 1

Gene Ontology (GO) - Cellular Components for PITPNM1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000932 P-body IDA --
GO:0005622 intracellular IEA --
GO:0005737 cytoplasm IEA --
GO:0005783 endoplasmic reticulum IEA --
GO:0005789 endoplasmic reticulum membrane IEA --
genes like me logo Genes that share ontologies with PITPNM1: view

Pathways & Interactions for PITPNM1 Gene

genes like me logo Genes that share pathways with PITPNM1: view

Pathways by source for PITPNM1 Gene

SIGNOR curated interactions for PITPNM1 Gene

Is activated by:

Gene Ontology (GO) - Biological Process for PITPNM1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006629 lipid metabolic process NAS 9680295
GO:0006661 phosphatidylinositol biosynthetic process TAS --
GO:0006810 transport IEA --
GO:0007420 brain development TAS 9245688
GO:0007602 phototransduction TAS 9680295
genes like me logo Genes that share ontologies with PITPNM1: view

Drugs & Compounds for PITPNM1 Gene

(2) Drugs for PITPNM1 Gene - From: HMDB and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
calcium Nutra 0

(389) Additional Compounds for PITPNM1 Gene - From: HMDB and Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
Diglycerides Group A
  • 1,2-Dimyristoyl-rac-glycerol
  • DAG(14:0/14:0)
  • DAG(28:0)
  • DG(14:0/14:0)
  • DG(28:0)
Diglycerides Group B
  • 1-Palmitoleoyl-2-arachidonyl-sn-glycerol
  • DAG(16:1/20:0)
  • DAG(16:1n7/20:0)
  • DAG(16:1w7/20:0)
  • DAG(36:1)
Diglycerides Group C
  • 1-Hexadecanoyl-3-(11-eicosenoyl)-sn-glycerol
  • 1-Palmitoyl-3-eicosenoyl-sn-glycerol
  • DAG(16:0/0:0/20:1)
  • DAG(16:0/0:0/20:1n9)
  • DAG(16:0/0:0/20:1w9)
Diglycerides Group D
  • 1,2-Didocosahexaenoyl-rac-glycerol
  • DAG(22:6/22:6)
  • DAG(22:6n3/22:6n3)
  • DAG(22:6w3/22:6w3)
  • DAG(44:12)
PC(18:1(9Z)e/2:0)
  • (2-acetyloxy-3-octadec-9-enoxypropyl) 2-trimethylazaniumylethyl phosphate
  • 2-Acetyl-1-(9Z-octadecenyl)-sn-glycero-3-phosphocholine
  • PC(O-18:1(9Z)/2:0)
genes like me logo Genes that share compounds with PITPNM1: view

Transcripts for PITPNM1 Gene

Unigene Clusters for PITPNM1 Gene

Phosphatidylinositol transfer protein, membrane-associated 1:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for PITPNM1 Gene

ExUns: 1 ^ 2a · 2b · 2c ^ 3 ^ 4 ^ 5a · 5b ^ 6 ^ 7 ^ 8 ^ 9a · 9b · 9c ^ 10 ^ 11 ^ 12 ^ 13 ^ 14 ^ 15 ^ 16a · 16b ^ 17 ^ 18 ^ 19a · 19b ^
SP1: - - - - -
SP2: - - - - -
SP3: - -
SP4:
SP5:
SP6: - - - - - - -
SP7: - -
SP8: - - -
SP9:
SP10:
SP11: - - -
SP12: - - - - -

ExUns: 20 ^ 21a · 21b ^ 22a · 22b ^ 23 ^ 24 ^ 25a · 25b ^ 26 ^ 27 ^ 28a · 28b
SP1: -
SP2: -
SP3: -
SP4:
SP5:
SP6:
SP7:
SP8:
SP9:
SP10:
SP11:
SP12:

Relevant External Links for PITPNM1 Gene

GeneLoc Exon Structure for
PITPNM1
ECgene alternative splicing isoforms for
PITPNM1

Expression for PITPNM1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for PITPNM1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for PITPNM1 Gene

This gene is overexpressed in Retina (17.5), Peripheral blood mononuclear cells (11.6), Islet of Langerhans (8.1), and Fetal Brain (6.9).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for PITPNM1 Gene



Protein tissue co-expression partners for PITPNM1 Gene

NURSA nuclear receptor signaling pathways regulating expression of PITPNM1 Gene:

PITPNM1

SOURCE GeneReport for Unigene cluster for PITPNM1 Gene:

Hs.372295

mRNA Expression by UniProt/SwissProt for PITPNM1 Gene:

O00562-PITM1_HUMAN
Tissue specificity: Ubiquitous.

Evidence on tissue expression from TISSUES for PITPNM1 Gene

  • Nervous system(4.8)
  • Intestine(4.2)
  • Liver(4.2)
  • Eye(2.9)
genes like me logo Genes that share expression patterns with PITPNM1: view

Primer Products

No data available for mRNA differential expression in normal tissues and Phenotype-based relationships between genes and organs from Gene ORGANizer for PITPNM1 Gene

Orthologs for PITPNM1 Gene

This gene was present in the common ancestor of chordates.

Orthologs for PITPNM1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia PITPNM1 34 35
  • 99.41 (n)
dog
(Canis familiaris)
Mammalia PITPNM1 34 35
  • 90.81 (n)
rat
(Rattus norvegicus)
Mammalia Pitpnm1 34
  • 88.22 (n)
cow
(Bos Taurus)
Mammalia PITPNM1 34 35