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Aliases for PITPNA Gene

Aliases for PITPNA Gene

  • Phosphatidylinositol Transfer Protein Alpha 2 3 5
  • PtdIns Transfer Protein Alpha 3 4
  • PtdInsTP Alpha 3 4
  • PI-TP-Alpha 3 4
  • PITPN 3 4
  • Phosphatidylinositol Transfer Protein Alpha Isoform 3
  • Phosphotidylinositol Transfer Protein 2
  • Epididymis Secretory Protein Li 36 3
  • PI-TPalpha 3
  • HEL-S-36 3
  • VIB1A 3

External Ids for PITPNA Gene

Previous HGNC Symbols for PITPNA Gene

  • PITPN

Previous GeneCards Identifiers for PITPNA Gene

  • GC17M001368
  • GC17M001421
  • GC17M001523

Summaries for PITPNA Gene

Entrez Gene Summary for PITPNA Gene

  • This gene encodes a member of a family of lipid-binding proteins that transfer molecules of phosphatidylinositol or phosphatidylcholine between membrane surfaces. The protein is implicated in phospholipase C signaling and in the production of phosphatidylinositol 3,4,5-trisphosphate (PIP3) by phosphoinositide-3-kinase.[provided by RefSeq, Sep 2009]

GeneCards Summary for PITPNA Gene

PITPNA (Phosphatidylinositol Transfer Protein Alpha) is a Protein Coding gene. Diseases associated with PITPNA include Hereditary Choroidal Atrophy and Partial Central Choroid Dystrophy. Among its related pathways are Developmental Biology and Netrin-1 signaling. Gene Ontology (GO) annotations related to this gene include lipid binding and phosphatidylcholine transporter activity. An important paralog of this gene is PITPNB.

UniProtKB/Swiss-Prot for PITPNA Gene

  • Catalyzes the transfer of PtdIns and phosphatidylcholine between membranes.

Gene Wiki entry for PITPNA Gene

Additional gene information for PITPNA Gene

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

Genomics for PITPNA Gene

GeneHancer (GH) Regulatory Elements for PITPNA Gene

Promoters and enhancers for PITPNA 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
GH17I001559 Promoter/Enhancer 2.2 EPDnew Ensembl ENCODE dbSUPER 560.6 +1.3 1339 3.9 HDGF PKNOX1 ARID4B SIN3A ZNF2 ZNF213 ZNF207 ZNF143 KLF13 SP3 PITPNA GEMIN4 PRPF8 MNT WDR81 SMYD4 ENSG00000262228 PIR42053 GC17M001550
GH17I001563 Enhancer 1.1 FANTOM5 ENCODE 556.4 -1.5 -1474 1.2 HDGF HDAC1 PKNOX1 ATF1 GTF3C2 TCF12 EGR1 SMARCA5 ZBTB2 NCOA1 PITPNA GEMIN4 PRPF8 MNT WDR81 SMYD4 ENSG00000262228 RILP PIR53488 GC17M001550
GH17I001624 Promoter/Enhancer 2.6 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 24.7 -64.7 -64661 6.1 HDGF PKNOX1 FOXA2 ARID4B SIN3A FEZF1 ZNF2 ZBTB7B ZNF213 ZNF207 SLC43A2 PITPNA ENSG00000263050 SMG6 HNRNPA1P16 ENSG00000263345 SCARF1 METTL16 MNT GLOD4
GH17I001616 Enhancer 1.6 FANTOM5 Ensembl ENCODE dbSUPER 28.7 -55.4 -55358 3 HDGF HDAC1 PKNOX1 SMAD1 ATF1 INSM2 KLF17 RAD21 TCF12 ZNF121 PITPNA SLC43A2 SCARF1 WDR81 CRK HIC1 GC17P001609 GC17M001550
GH17I001484 Promoter/Enhancer 2.6 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 16.9 +74.2 74160 9.2 HDGF PKNOX1 SMAD1 ARID4B SIN3A DMAP1 ZNF2 ZBTB7B YY1 ZNF213 MYO1C PITPNA PRPF8 WDR81 SMYD4 GEMIN4 DPH1 YWHAE ENSG00000262228 INPP5K
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around PITPNA on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the PITPNA gene promoter:

Genomic Locations for PITPNA Gene

Genomic Locations for PITPNA Gene
chr17:1,517,718-1,562,816
(GRCh38/hg38)
Size:
45,099 bases
Orientation:
Minus strand
chr17:1,421,012-1,466,110
(GRCh37/hg19)

Genomic View for PITPNA Gene

Genes around PITPNA on UCSC Golden Path with GeneCards custom track

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

RefSeq DNA sequence for PITPNA Gene

Proteins for PITPNA Gene

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

    Protein Symbol:
    Q00169-PIPNA_HUMAN
    Recommended name:
    Phosphatidylinositol transfer protein alpha isoform
    Protein Accession:
    Q00169

    Protein attributes for PITPNA Gene

    Size:
    270 amino acids
    Molecular mass:
    31806 Da
    Quaternary structure:
    No Data Available

    Three dimensional structures from OCA and Proteopedia for PITPNA Gene

neXtProt entry for PITPNA Gene

Post-translational modifications for PITPNA Gene

  • Ubiquitination at isoforms=86, Lys178, isoforms=201, and Lys208

No data available for DME Specific Peptides for PITPNA Gene

Domains & Families for PITPNA Gene

Gene Families for PITPNA Gene

Protein Domains for PITPNA Gene

Suggested Antigen Peptide Sequences for PITPNA Gene

Graphical View of Domain Structure for InterPro Entry

Q00169

UniProtKB/Swiss-Prot:

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

Function for PITPNA Gene

Molecular function for PITPNA Gene

UniProtKB/Swiss-Prot Function:
Catalyzes the transfer of PtdIns and phosphatidylcholine between membranes.

Phenotypes From GWAS Catalog for PITPNA Gene

Gene Ontology (GO) - Molecular Function for PITPNA Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0008289 lipid binding IEA --
GO:0008525 phosphatidylcholine transporter activity IDA,TAS 16274224
GO:0008526 phosphatidylinositol transporter activity TAS,IDA 16274224
GO:0031210 phosphatidylcholine binding IDA 16274224
GO:0035091 phosphatidylinositol binding IDA 16274224
genes like me logo Genes that share ontologies with PITPNA: view
genes like me logo Genes that share phenotypes with PITPNA: view

Animal Models for PITPNA Gene

MGI Knock Outs for PITPNA:

Animal Model Products

miRNA for PITPNA Gene

Clone Products

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

Localization for PITPNA Gene

Subcellular locations from UniProtKB/Swiss-Prot for PITPNA Gene

Cytoplasm.

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 PITPNA gene
Compartment Confidence
extracellular 5
cytosol 5
plasma membrane 1
endoplasmic reticulum 1
golgi apparatus 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytosol (2)
  • Vesicles (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for PITPNA Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005622 intracellular IEA --
GO:0005737 cytoplasm IEA --
GO:0005829 cytosol TAS --
GO:0043209 myelin sheath IEA --
GO:0070062 extracellular exosome HDA,IDA 18570454
genes like me logo Genes that share ontologies with PITPNA: view

Pathways & Interactions for PITPNA Gene

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

Pathways by source for PITPNA Gene

Gene Ontology (GO) - Biological Process for PITPNA Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006629 lipid metabolic process NAS 8194769
GO:0006810 transport IEA --
GO:0007409 axonogenesis IEA --
GO:0007601 visual perception TAS 7914867
GO:0015914 phospholipid transport IDA,IEA 16274224
genes like me logo Genes that share ontologies with PITPNA: view

No data available for SIGNOR curated interactions for PITPNA Gene

Drugs & Compounds for PITPNA Gene

(2) Drugs for PITPNA Gene - From: DrugBank

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
(Z,Z)-4-Hydroxy-N,N,N-Trimethyl-10-Oxo-7-[(1-Oxo-9-Octadecenyl)Oxy]-3,5,9-Trioxa-4-Phosphaheptacos-18-En-1-Aminium-4-Oxide Experimental Pharma Target 0
1,2-diacyl-sn-glycero-3-phosphoinositol Experimental Pharma Target 0

(386) Additional Compounds for PITPNA Gene - From: HMDB and Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
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)
Phosphatidylcholines Group A
  • (Z,Z)-(1)-(7-Oleoyl-4-oxido-10-oxo-3,5,9-trioxa-4-phosphaheptacos-18-enyl)trimethylammonium 4-oxide
  • (Z,Z)-4-hydroxy-N,N,N-trimethyl-10-oxo-7-[(1-oxo-9-octadecenyl)oxy]-3,5,9-Trioxa-4-phosphaheptacos-18-en-1-aminium 4-oxide hydroxide inner salt
  • 1,2-Dioleoyl-rac-glycero-3-phosphocholine
  • 1,2-Dioleoylglycerol-3-phosphorylcholine
  • 1,2-Dioleoylglyceryl-3-phosphorylcholine
68737-67-7
Phosphatidylcholines Group B
  • 1-(1-Enyl-palmitoyl)-2-eicosenoyl-sn-glycero-3-phosphocholine
  • GPCho(16:0/20:1)
  • GPCho(16:0/20:1n9)
  • GPCho(16:0/20:1w9)
  • GPCho(36:1)
88542-95-4
Phosphatidylinositol-3,4,5-trisphosphate
  • 1,2-Diacyl-sn-glycero-3-phospho-(1'-myo-inositol-3',4',5'-bisphosphate)
  • 1-Phosphatidyl-1D-myo-inositol 3,4,5-trisphosphate
  • Phosphatidylinositol-3,4,5-trisphosphate
PI(16:0/16:0)
  • 1,2-Dihexadecanoyl-rac-glycero-3-phospho-(1'-myo-inositol)
  • 1,2-Dipalmitoyl-rac-glycero-3-phosphoinositol
  • Phosphatidylinositol(16:0/16:0)
  • Phosphatidylinositol(32:0)
  • PI(16:0/16:0)
genes like me logo Genes that share compounds with PITPNA: view

Transcripts for PITPNA Gene

Unigene Clusters for PITPNA Gene

Phosphatidylinositol transfer protein, alpha:
Representative Sequences:

Clone Products

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

No ASD Table

Relevant External Links for PITPNA Gene

GeneLoc Exon Structure for
PITPNA
ECgene alternative splicing isoforms for
PITPNA

Expression for PITPNA Gene

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

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for PITPNA Gene

This gene is overexpressed in Brain (9.8) and Skin (6.8).

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



Protein tissue co-expression partners for PITPNA Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of PITPNA Gene:

PITPNA

SOURCE GeneReport for Unigene cluster for PITPNA Gene:

Hs.429819

mRNA Expression by UniProt/SwissProt for PITPNA Gene:

Q00169-PIPNA_HUMAN
Tissue specificity: Expressed in a wide range of tissues.

Evidence on tissue expression from TISSUES for PITPNA Gene

  • Nervous system(4.8)
  • Eye(3)
  • Lung(2.2)
genes like me logo Genes that share expression patterns with PITPNA: view

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

Orthologs for PITPNA Gene

This gene was present in the common ancestor of animals.

Orthologs for PITPNA Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia PITPNA 33 34
  • 100 (n)
dog
(Canis familiaris)
Mammalia PITPNA 33 34
  • 94.07 (n)
mouse
(Mus musculus)
Mammalia Pitpna 33 16 34
  • 93.58 (n)
rat
(Rattus norvegicus)
Mammalia Pitpna 33
  • 93.21 (n)
cow
(Bos Taurus)
Mammalia PITPNA 33 34
  • 92.96 (n)
oppossum
(Monodelphis domestica)
Mammalia PITPNA 34
  • 90 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia PITPNA 34
  • 80 (a)
OneToOne
chicken
(Gallus gallus)
Aves PITPNA 34
  • 89 (a)
OneToOne
LOC100859747 33
  • 82.89 (n)
lizard
(Anolis carolinensis)
Reptilia PITPNA 34
  • 88 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia pitpna 33
  • 80 (n)
African clawed frog
(Xenopus laevis)
Amphibia pitpn-prov 33
zebrafish
(Danio rerio)
Actinopterygii pitpnaa 34
  • 79 (a)
OneToMany
pitpnab 33 34
  • 76.78 (n)
-- 33
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.529 33
fruit fly
(Drosophila melanogaster)
Insecta vib 34
  • 59 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea Y54F10AR.1 34
  • 58 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea CSA.9844 34
  • 57 (a)
OneToMany
Species where no ortholog for PITPNA was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • 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)
  • 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)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • 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)
  • wheat (Triticum aestivum)

Evolution for PITPNA Gene

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

Paralogs for PITPNA Gene

Paralogs for PITPNA Gene

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

Variants for PITPNA Gene

Sequence variations from dbSNP and Humsavar for PITPNA Gene

SNP ID Clin Chr 17 pos Variation AA Info Type
rs1000015190 -- 1,528,241(-) A/G intron_variant
rs1000032744 -- 1,534,763(-) T/C intron_variant
rs1000101300 -- 1,535,769(-) G/A intron_variant
rs1000104661 -- 1,524,334(-) G/A intron_variant
rs1000195913 -- 1,547,666(-) T/A/C intron_variant

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

Variant ID Type Subtype PubMed ID
nsv833334 CNV loss 17160897
nsv457635 CNV gain 19166990
nsv1945 CNV insertion 18451855
nsv1143841 CNV deletion 24896259
nsv1131292 CNV deletion 24896259
nsv112511 CNV deletion 16902084
nsv1116178 CNV deletion 24896259
esv3639689 CNV gain 21293372
esv3553984 CNV deletion 23714750
esv3553983 CNV deletion 23714750
esv2715471 CNV deletion 23290073
esv2715470 CNV deletion 23290073
esv2715469 CNV deletion 23290073
esv2715468 CNV deletion 23290073
esv2715467 CNV deletion 23290073
esv2672007 CNV deletion 23128226
esv2664141 CNV deletion 23128226

Variation tolerance for PITPNA Gene

Residual Variation Intolerance Score: 28.2% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.14; 3.15% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for PITPNA Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
PITPNA

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

Disorders for PITPNA Gene

MalaCards: The human disease database

(2) MalaCards diseases for PITPNA Gene - From: DISEASES

Disorder Aliases PubMed IDs
hereditary choroidal atrophy
  • hereditary choroidal dystrophy
partial central choroid dystrophy
  • choroidal dystrophy, central areolar
- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for PITPNA

genes like me logo Genes that share disorders with PITPNA: view

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

Publications for PITPNA Gene

  1. Sequence of a human cDNA encoding phosphatidylinositol transfer protein and occurrence of a related sequence in widely divergent eukaryotes. (PMID: 8194769) Dickeson SK … Yarbrough LR (Gene 1994) 3 4 22 58
  2. Structure of PITPbeta in complex with phosphatidylcholine: comparison of structure and lipid transfer to other PITP isoforms. (PMID: 16274224) Vordtriede PB … Yoder MD (Biochemistry 2005) 3 22 58
  3. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4 58
  4. Structure-function analysis of human [corrected] phosphatidylinositol transfer protein alpha bound to phosphatidylinositol. (PMID: 14962392) Tilley SJ … McDonald NQ (Structure (London, England : 1993) 2004) 4 22 58
  5. Phosphatidylinositol transfer protein required for ATP-dependent priming of Ca(2+)-activated secretion. (PMID: 8255295) Hay JC … Martin TF (Nature 1993) 2 3 58

Products for PITPNA Gene

Sources for PITPNA Gene