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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 Metabolism and Glycerophospholipid biosynthesis. 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 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
GH11F067265 1 FANTOM5 ENCODE 5.1 +227.8 227799 25.5 CREB3L1 MLX ZFP64 FEZF1 DMAP1 YBX1 YY1 SLC30A9 ZNF143 ZNF548 SSH3 ENSG00000258297 GRK2 KDM2A ANKRD13D RBM14 PTPRCAP LOC101928069 MRPL11 RHOD
GH11F067077 1.2 FANTOM5 Ensembl ENCODE 1.1 +427.9 427922 2.5 TBP KLF17 BRCA1 ZNF366 FOS DEK EGR2 PAF1 SMARCC1 CEBPB RHOD KDM2A ANKRD13D CDK2AP2 GRK2 RBM4 CLCF1 SSH3 TMEM134 PITPNM1
GH11F067503 0.6 ENCODE 0.8 -1.4 -1419 7.4 HDGF PKNOX1 CREB3L1 ARID4B SIN3A DMAP1 ZNF2 YY1 ZNF766 ZNF207 CTSF ENSG00000258297 CDK2AP2 PTPRCAP PITPNM1
- Elite enhancer/Elite enhancer-gene association Download Table
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
ENSR00001769453 -37 201 HDGF PKNOX1 ARID4B SIN3A DMAP1 ZNF48 YY1 ELK1 ZNF207 ZNF143
ENSR00001769452 1563 1801 HDGF DMAP1 ZNF2 GLIS2 CREM ZNF263 SP3 ZBTB2 ZBTB11 ZEB2

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 :
  • Contains 1 DDHD domain.
  • Belongs to the PtdIns transfer protein family. PI transfer class IIA subfamily.
Domain:
  • Contains 1 DDHD domain.
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 22822086
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

miRNA for PITPNM1 Gene

miRTarBase miRNAs that target PITPNM1

Inhibitory RNA 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
Jensen Localization Image for PITPNM1 Gene COMPARTMENTS Subcellular localization image for PITPNM1 gene
Compartment Confidence
cytosol 4
endoplasmic reticulum 4
golgi apparatus 4
plasma membrane 2
mitochondrion 1
nucleus 1
peroxisome 1

Gene Ontology (GO) - Cellular Components for PITPNM1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IDA --
GO:0005783 endoplasmic reticulum IEA --
GO:0005789 endoplasmic reticulum membrane IEA --
GO:0005794 Golgi apparatus IEA --
GO:0005811 lipid particle 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:0006810 transport IEA --
GO:0007420 brain development TAS 9245688
GO:0007602 phototransduction TAS 9680295
GO:0015031 protein transport IEA --
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-Myristoyl-3-stearoyl-sn-glycerol
  • 1-Tetradecanoyl-3-octadecanoyl-sn-glycerol
  • DAG(14:0/0:0/18:0)
  • DAG(32:0)
  • DG(32:0)
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:

Inhibitory RNA 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 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.
genes like me logo Genes that share expression patterns with PITPNM1: view

Primer Products

No data available for mRNA differential expression in normal tissues 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
  • 87.93 (n)
mouse
(Mus musculus)
Mammalia Pitpnm1 34 16 35
  • 87.61 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia -- 35
  • 46 (a)
ManyToMany
chicken
(Gallus gallus)
Aves PITPNM1 34 35
  • 75.21 (n)
lizard
(Anolis carolinensis)
Reptilia PITPNM1 35
  • 74 (a)
OneToOne
zebrafish
(Danio rerio)
Actinopterygii plrdgb 35
  • 40 (a)
ManyToMany
Species where no ortholog for PITPNM1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • oppossum (Monodelphis domestica)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for PITPNM1 Gene

ENSEMBL:
Gene Tree for PITPNM1 (if available)
TreeFam:
Gene Tree for PITPNM1 (if available)

Paralogs for PITPNM1 Gene

Paralogs for PITPNM1 Gene

(6) SIMAP similar genes for PITPNM1 Gene using alignment to 5 proteins:

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

Variants for PITPNM1 Gene

Sequence variations from dbSNP and Humsavar for PITPNM1 Gene

SNP ID Clin Chr 11 pos Sequence Context AA Info Type
rs1046353 -- 67,506,655(-) CACTT(C/T)TCCCA nc-transcript-variant, upstream-variant-2KB, utr-variant-3-prime
rs1046363 -- 67,506,627(-) TTCTC(C/G)CCCAG nc-transcript-variant, upstream-variant-2KB, utr-variant-3-prime
rs1052020 -- 67,491,856(-) CCAGC(A/C/G)CCGGG utr-variant-3-prime
rs111372057 -- 67,506,358(+) AGGTC(C/G)CACCA downstream-variant-500B, upstream-variant-2KB
rs111446511 -- 67,504,479(+) CCCCC(C/T)GGAGC intron-variant

Structural Variations from Database of Genomic Variants (DGV) for PITPNM1 Gene

Variant ID Type Subtype PubMed ID
dgv1977n54 CNV loss 21841781
dgv52n111 CNV deletion 26073780
esv1382014 CNV insertion 17803354
esv2422195 CNV duplication 17116639
esv2550700 CNV insertion 19546169
esv3419217 CNV duplication 20981092
nsv368 CNV insertion 18451855
nsv468604 CNV loss 19166990
nsv513323 CNV insertion 21212237
nsv521723 CNV loss 19592680
nsv527056 CNV loss 19592680
nsv951022 CNV deletion 24416366

Variation tolerance for PITPNM1 Gene

Residual Variation Intolerance Score: 3.11% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.97; 49.55% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for PITPNM1 Gene

Human Gene Mutation Database (HGMD)
PITPNM1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
PITPNM1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for PITPNM1 Gene

Disorders for PITPNM1 Gene

MalaCards: The human disease database

(2) MalaCards diseases for PITPNM1 Gene - From: DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
retinal degeneration
  • degeneration of retina
hypopyon
- elite association - COSMIC cancer census association via MalaCards

Relevant External Links for PITPNM1

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
PITPNM1
genes like me logo Genes that share disorders with PITPNM1: view

No data available for UniProtKB/Swiss-Prot and Genatlas for PITPNM1 Gene

Publications for PITPNM1 Gene

  1. A mammalian homologue of the Drosophila retinal degeneration B gene: implications for the evolution of phototransduction mechanisms. (PMID: 9680295) Rubboli F. … Banfi S. (Genes Funct. 1997) 2 3 4 22 64
  2. Chromosomal localization, genomic organization and evolution of the genes encoding human phosphatidylinositol transfer protein membrane- associated (PITPNM) 1, 2 and 3. (PMID: 15627748) Ocaka L. … Halford S. (Cytogenet. Genome Res. 2005) 3 4 22 64
  3. Mitotic phosphorylation of the peripheral Golgi protein Nir2 by Cdk1 provides a docking mechanism for Plk1 and affects cytokinesis completion. (PMID: 15125835) Litvak V. … Lev S. (Mol. Cell 2004) 3 4 22 64
  4. Identification of a novel family of targets of PYK2 related to Drosophila retinal degeneration B (rdgB) protein. (PMID: 10022914) Lev S. … Schlessinger J. (Mol. Cell. Biol. 1999) 3 4 22 64
  5. Differential regulation of endoplasmic reticulum structure through VAP-Nir protein interaction. (PMID: 15545272) Amarilio R. … Lev S. (J. Biol. Chem. 2005) 3 4 64

Products for PITPNM1 Gene