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] See more...

Aliases for PITPNM1 Gene

Aliases for PITPNM1 Gene

  • Phosphatidylinositol Transfer Protein Membrane Associated 1 2 3 5
  • DRES9 2 3 4
  • NIR2 2 3 4
  • Membrane-Associated Phosphatidylinositol Transfer Protein 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
  • RDGBA1 2 3
  • RDGB1 2 3
  • NIR-2 3 4
  • RDGB 2 3
  • Rd9 2 3
  • Phosphatidylinositol Transfer Protein, Membrane Associated 1 2
  • Phosphatidylinositol Transfer Protein, Membrane-Associated 1 4
  • Pyk2 N-Terminal Domain-Interacting Receptor 2 4
  • PITPNM1 5
  • RDGBA 3

External Ids for PITPNM1 Gene

Previous HGNC Symbols for PITPNM1 Gene

  • PITPNM

Previous GeneCards Identifiers for PITPNM1 Gene

  • GC11M067509
  • GC11M067034
  • GC11M067015
  • GC11M067260
  • GC11M063588
  • GC11M067492
  • GC11M067493
  • GC11M067502
  • GC11M067521

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 Thymus Sarcomatoid Carcinoma. Among its related pathways are Glycerophospholipid biosynthesis and Metabolism. Gene Ontology (GO) annotations related to this gene include phosphatidylinositol transporter activity. An important paralog of this gene is PITPNM2.

UniProtKB/Swiss-Prot Summary for PITPNM1 Gene

  • Catalyzes the transfer of phosphatidylinositol (PI) between membranes (PubMed:22822086, PubMed:10531358). Binds PI, phosphatidylcholine (PC) and phosphatidic acid (PA) with the binding affinity order of PI > PA > PC (PubMed:22822086). Regulates RHOA activity, and plays a role in cytoskeleton remodeling (PubMed:11909959). Necessary for normal completion of cytokinesis (PubMed:15125835). Plays a role in maintaining normal diacylglycerol levels in the Golgi apparatus (PubMed:15723057). Necessary for maintaining the normal structure of the endoplasmic reticulum and the Golgi apparatus (PubMed:15545272). Required for protein export from the endoplasmic reticulum and the Golgi (PubMed:15723057). Binds calcium ions (PubMed:10022914).

Gene Wiki entry for PITPNM1 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for PITPNM1 Gene

Genomics for PITPNM1 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for PITPNM1 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH11J067503 Promoter/Enhancer 2.4 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 250.7 -1.0 -1039 8.2 BCLAF1 SP1 ZNF654 ZNF207 NCOR1 ZNF600 MYC ZNF580 ZNF592 ZMYM3 CDK2AP2 MN309274 lnc-CDK2AP2-1 PITPNM1 lnc-PITPNM1-1 PPP6R3 RBM14 KMT5B RBM4 RCE1
GH11J067265 Promoter/Enhancer 2.7 EPDnew FANTOM5 Ensembl ENCODE CraniofacialAtlas dbSUPER 5.1 +227.8 227799 25.5 BCLAF1 SP1 ZNF207 NCOR1 MYC IKZF1 ZNF600 SSRP1 ZNF592 POLR2A GRK2 ANKRD13D MN309383 SSH3 KDM2A PTPRCAP RHOD CARNS1 C11orf80 PC
GH11J067077 Enhancer 1.2 FANTOM5 ENCODE dbSUPER 1.1 +427.9 427938 2.5 BRCA1 CEBPB DEK MAX ZNF217 POLR2A CTBP1 SMC3 TBP TCF7L2 RF00017-861 RHOD KDM2A ANKRD13D CDK2AP2 GRK2 RBM4 CLCF1 SSH3 TMEM134
GH11J067482 Promoter/Enhancer 2.6 EPDnew FANTOM5 Ensembl ENCODE CraniofacialAtlas dbSUPER 0.4 +21.0 21004 6.5 BCLAF1 SP1 ZNF207 IKZF1 SIX5 ZNF580 ZNF592 KLF9 POLR2A CHD4 AIP piR-46501-012 PTPRCAP KMT5B RBM14 RCE1 RBM4 RAD9A KDM2A PPP6R3
GH11J067502 Promoter/Enhancer 0.5 Ensembl dbSUPER 0.7 +3.4 3362 0.2 lnc-CDK2AP2-1 lnc-CDK2AP2-2 PITPNM1 TMEM134
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around PITPNM1 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for PITPNM1

Top Transcription factor binding sites by QIAGEN in the PITPNM1 gene promoter:
  • AP-2gamma
  • Chx10
  • Egr-3
  • Evi-1
  • Olf-1
  • Pax-5
  • PPAR-alpha

Genomic Locations for PITPNM1 Gene

Latest Assembly
chr11:67,491,760-67,506,263
(GRCh38/hg38)
Size:
14,504 bases
Orientation:
Minus strand

Previous Assembly
chr11:67,259,239-67,272,834
(GRCh37/hg19 by Entrez Gene)
Size:
13,596 bases
Orientation:
Minus strand

chr11:67,259,239-67,273,734
(GRCh37/hg19 by Ensembl)
Size:
14,496 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

HGNC:
Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Protein Domains for PITPNM1 Gene

InterPro:
Blocks:
  • Phosphatidylinositol transfer protein signature

Suggested Antigen Peptide Sequences for PITPNM1 Gene

GenScript: Design optimal peptide antigens:
  • Pyk2 N-terminal domain-interacting receptor 2 (PITM1_HUMAN)

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:
Catalyzes the transfer of phosphatidylinositol (PI) between membranes (PubMed:22822086, PubMed:10531358). Binds PI, phosphatidylcholine (PC) and phosphatidic acid (PA) with the binding affinity order of PI > PA > PC (PubMed:22822086). Regulates RHOA activity, and plays a role in cytoskeleton remodeling (PubMed:11909959). Necessary for normal completion of cytokinesis (PubMed:15125835). Plays a role in maintaining normal diacylglycerol levels in the Golgi apparatus (PubMed:15723057). Necessary for maintaining the normal structure of the endoplasmic reticulum and the Golgi apparatus (PubMed:15545272). Required for protein export from the endoplasmic reticulum and the Golgi (PubMed:15723057). Binds calcium ions (PubMed:10022914).
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=a 1,2-diacyl-sn-glycero-3-phospho-(1D-myo-inositol)(in) = a 1,2-diacyl-sn-glycero-3-phospho-(1D-myo-inositol)(out); Xref=Rhea:RHEA:38691, ChEBI:CHEBI:57880; Evidence={ECO:0000269|PubMed:10531358, ECO:0000269|PubMed:22822086};.

Phenotypes From GWAS Catalog for PITPNM1 Gene

Gene Ontology (GO) - Molecular Function for PITPNM1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005509 calcium ion binding IDA 10022914
GO:0005515 protein binding IPI 25416956
GO:0005548 phospholipid transporter activity IEA --
GO:0008525 phosphatidylcholine transporter activity IBA 21873635
GO:0008526 phosphatidylinositol transporter activity TAS,IDA 10531358
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:
  • Pitpnm1 Pitpnm1<tm1a(EUCOMM)Wtsi>

miRNA for PITPNM1 Gene

miRTarBase miRNAs that target PITPNM1

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for 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
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
plasma membrane 4
golgi apparatus 4
mitochondrion 2
nucleus 2
endoplasmic reticulum 2
endosome 2
extracellular 1
cytoskeleton 1
peroxisome 1
lysosome 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytosol (3)
  • Vesicles (3)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for PITPNM1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IBA 21873635
GO:0005783 endoplasmic reticulum IEA --
GO:0005789 endoplasmic reticulum membrane IEA --
GO:0005794 Golgi apparatus IEA --
GO:0005811 lipid droplet 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: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

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

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
L-Dilinoleoyllecithin Experimental Pharma 0
Calcium Nutra 6959

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

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
CE(22:0)
  • 1-Tetradecanoyl-2-octadecanoyl-sn-glycero-3-phosphocholine
  • GPCho(14:0/18:0)
  • Phosphatidylcholine(14:0/18:0)
  • 1-Myristoyl-2-stearoylphosphatidylcholine
  • 1m-2S-PC
61510-09-6
DG(16:0/24:0/0:0)
  • 1-Palmitoyl-2-lignoceroyl-sn-glycerol
  • DAG(16:0/24:0)
  • DAG(40:0)
  • DG(16:0/24:0)
  • DG(40:0)
Diglycerides Group A
  • (2R)-2-Hydroxy-3-(pentadecanoyloxy)propyl (11Z)-icos-11-enoic acid
  • Diacylglycerol(15:0/0:0/20:1)
  • DAG(35:1)
  • Diacylglycerol(35:1)
  • DG(15:0/0:0/20:1W9)
Diglycerides Group B
  • Diglyceride
  • DG(32:4)
  • DG(14:1/18:3)
  • DAG(14:1/18:3)
  • Diacylglycerol(32:4)
257891-89-7
Diglycerides Group C
  • (2S)-1-Hydroxy-3-(palmitoyloxy)propan-2-yl (5Z,8Z,11Z,14Z)-icosa-5,8,11,14-tetraenoate
  • 1,2-DG 16:0/20:4(omega-6)
  • 1-Hexadecanoyl-2-(5Z,8Z,11Z,14Z)-icosatetraenoyl-sn-glycerol
  • 1-Hexadecanoyl-2-(5Z,8Z,11Z,14Z-eicosatetraenoyl)-sn-glycerol
  • DAG(16:0/20:4)
91125-76-7, 29541-66-0, 51621-26-2
genes like me logo Genes that share compounds with PITPNM1: view

Transcripts for PITPNM1 Gene

mRNA/cDNA for PITPNM1 Gene

2 REFSEQ mRNAs :
8 NCBI additional mRNA sequence :
16 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for PITPNM1

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

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, MaxQB, and MOPED for PITPNM1 Gene



Protein tissue co-expression partners for PITPNM1 Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for 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)
  • Liver(4.4)
  • Intestine(4.4)
  • Eye(2.8)
  • Blood(2.2)
  • Muscle(2.1)
  • Lymph node(2.1)
genes like me logo Genes that share expression patterns with PITPNM1: view

Primer products for research

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 29 30
  • 99.41 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia PITPNM1 29 30
  • 90.81 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Pitpnm1 29
  • 88.22 (n)
Cow
(Bos Taurus)
Mammalia PITPNM1 29 30
  • 87.93 (n)
OneToOne
Mouse
(Mus musculus)
Mammalia Pitpnm1 29 16 30
  • 87.61 (n)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia -- 30
  • 46 (a)
ManyToMany
Chicken
(Gallus gallus)
Aves PITPNM1 29 30
  • 75.21 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia PITPNM1 30
  • 74 (a)
OneToOne
Zebrafish
(Danio rerio)
Actinopterygii plrdgb 30
  • 40 (a)
ManyToMany
Species where no ortholog for PITPNM1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium 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 Vase (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)
Aminode:
Evolutionary constrained regions (ECRs) for PITPNM1: view image
Alliance of Genome Resources:
Additional Orthologs for PITPNM1

Paralogs for PITPNM1 Gene

Paralogs for PITPNM1 Gene

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

  • PITM1_HUMAN
  • E9PMS0_HUMAN
  • E9PMZ6_HUMAN
  • E9PNU6_HUMAN
  • E9PSD1_HUMAN
genes like me logo Genes that share paralogs with PITPNM1: view

Variants for PITPNM1 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for PITPNM1 Gene

SNP ID Clinical significance and condition Chr 11 pos Variation AA Info Type
rs117420640 Benign: not provided 67,502,683(-) G/A
NM_004910.3(PITPNM1):c.114C>T (p.Ser38=)
SYNONYMOUS
rs144939807 Benign: not provided 67,494,940(-) C/T
NM_004910.3(PITPNM1):c.2648G>A (p.Arg883Gln)
MISSENSE
rs59249357 Benign: not provided 67,500,165(-) G/A
NM_004910.3(PITPNM1):c.897C>T (p.Ala299=)
SYNONYMOUS
rs61755427 Likely Benign: not provided 67,492,138(-) C/T
NM_004910.3(PITPNM1):c.3630G>A (p.Ser1210=)
SYNONYMOUS
rs767162638 Likely Benign: not provided 67,492,209(-) A/G
NM_004910.3(PITPNM1):c.3559T>C (p.Leu1187=)
SYNONYMOUS

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for PITPNM1 Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

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)

Additional Variant Information for PITPNM1 Gene

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

SNP Genotyping and Copy Number Assays for research

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

Disorders for PITPNM1 Gene

MalaCards: The human disease database

(10) MalaCards diseases for PITPNM1 Gene - From: COP and GCD

Disorder Aliases PubMed IDs
retinal degeneration
  • degeneration of retina
thymus sarcomatoid carcinoma
  • thymic carcinosarcoma
cone-rod dystrophy 5
  • cord5
cone-rod dystrophy 7
  • cord7
cone dystrophy
  • retinal cone dystrophy
- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for 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 and function 1997) 2 3 4 22
  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 (Cytogenetic and genome research 2005) 3 4 22
  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 (Molecular cell 2004) 3 4 22
  4. Identification of a novel family of targets of PYK2 related to Drosophila retinal degeneration B (rdgB) protein. (PMID: 10022914) Lev S … Schlessinger J (Molecular and cellular biology 1999) 3 4 22
  5. Cloning and characterization of a novel human phosphatidylinositol transfer protein, rdgBbeta. (PMID: 10531358) Fullwood Y … Hsuan JJ (The Journal of biological chemistry 1999) 3 4 22

Products for PITPNM1 Gene