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Aliases for PITPNM1 Gene

Aliases for PITPNM1 Gene

  • Phosphatidylinositol Transfer Protein Membrane Associated 1 2 3
  • Phosphatidylinositol Transfer Protein, Membrane Associated 1 2 3 5
  • Phosphatidylinositol Transfer Protein, Membrane-Associated 1 3 4
  • PYK2 N-Terminal Domain-Interacting Receptor 2 2 3
  • 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
  • Pyk2 N-Terminal Domain-Interacting Receptor 2 4
  • 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. 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

Promoters for PITPNM1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around PITPNM1 on UCSC Golden Path with GeneCards custom track

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

Proteomics data for PITPNM1 Gene at MOPED

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

Other Protein References for PITPNM1 Gene

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:0008526 phosphatidylinositol transporter activity TAS 9245688
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

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:0005622 intracellular IEA --
GO:0016020 membrane TAS 9245688
GO:0032154 cleavage furrow IEA --
GO:0032580 Golgi cisterna membrane IEA --
genes like me logo Genes that share ontologies with PITPNM1: view

Pathways & Interactions for PITPNM1 Gene

SuperPathways for PITPNM1 Gene

No Data Available

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:0006810 transport IEA --
genes like me logo Genes that share ontologies with PITPNM1: view

No data available for Pathways by source for PITPNM1 Gene

Drugs & Compounds for PITPNM1 Gene

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

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:

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 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, MOPED, and MaxQB for PITPNM1 Gene



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

Protein tissue co-expression partners for PITPNM1 Gene

Primer Products

In Situ Assay 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 36
  • 100 (a)
OneToOne
PITPNM1 35
  • 99.41 (n)
  • 99.52 (a)
cow
(Bos Taurus)
Mammalia PITPNM1 36
  • 91 (a)
OneToOne
PITPNM1 35
  • 87.93 (n)
  • 91.31 (a)
dog
(Canis familiaris)
Mammalia PITPNM1 35
  • 90.81 (n)
  • 95.18 (a)
PITPNM1 36
  • 95 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Pitpnm1 16
Pitpnm1 36
  • 93 (a)
OneToOne
Pitpnm1 35
  • 87.61 (n)
  • 93.4 (a)
platypus
(Ornithorhynchus anatinus)
Mammalia -- 36
  • 46 (a)
ManyToMany
rat
(Rattus norvegicus)
Mammalia Pitpnm1 35
  • 88.22 (n)
  • 93.56 (a)
chicken
(Gallus gallus)
Aves PITPNM1 35
  • 75.21 (n)
  • 76.45 (a)
PITPNM1 36
  • 74 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia PITPNM1 36
  • 74 (a)
OneToOne
zebrafish
(Danio rerio)
Actinopterygii plrdgb 36
  • 40 (a)
ManyToMany
Species with no ortholog for PITPNM1:
  • 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
rs1551883 -- 67,498,691(-) GCCGT(C/T)ACCCG nc-transcript-variant, reference, synonymous-codon
rs7104627 -- 67,493,275(+) GGACC(A/G)TAGCG intron-variant
rs7952329 -- 67,492,723(+) GTCTT(C/G)AGCAC intron-variant
rs12789119 -- 67,494,815(+) GCGAG(A/G/T)GGGCG intron-variant, downstream-variant-500B
rs34238382 -- 67,505,781(+) CTGGG(-/A)CTCGG upstream-variant-2KB

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

Variant ID Type Subtype PubMed ID
nsv897797 CNV Loss 21882294
nsv897801 CNV Loss 21882294
dgv1193n71 CNV Loss 21882294
dgv1194n71 CNV Loss 21882294
nsv521723 CNV Loss 19592680
nsv468604 CNV Loss 19166990
nsv527056 CNV Loss 19592680
esv2422195 CNV Duplication 17116639
nsv368 CNV Insertion 18451855
nsv513323 CNV Insertion 21212237
esv2550700 CNV Insertion 19546169
esv1382014 CNV Insertion 17803354

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

HapMap Linkage Disequilibrium report
PITPNM1
Human Gene Mutation Database (HGMD)
PITPNM1

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

Disorders for PITPNM1 Gene

MalaCards: The human disease database

(3) MalaCards diseases for PITPNM1 Gene - From: DISEASES and GeneCards

Disorder Aliases PubMed IDs
retinal degeneration
  • degeneration of retina
hypopyon
recurrent corneal erosion
  • recurrent erosion of cornea
- 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 23 67
  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 23
  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 23
  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 23
  5. Molecular cloning and characterization of mammalian homologues of the Drosophila retinal degeneration B gene. (PMID: 9245688) Aikawa Y. … Watanabe T. (Biochem. Biophys. Res. Commun. 1997) 3 23

Products for PITPNM1 Gene

Sources for PITPNM1 Gene

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