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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 Netrin-1 signaling and Developmental Biology. 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

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

Genomics for PITPNA Gene

Regulatory Elements for PITPNA Gene

Enhancers for PITPNA 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
GH17F001533 0.7 ENCODE 31.6 +28.8 28768 1.6 CTCF ZNF654 ZBTB33 REST ELF1 RAD21 SPI1 PITPNA TUSC5 BHLHA9 PIR53156 PIR60547 GC17M001526
GH17F001554 1.1 FANTOM5 Ensembl ENCODE 29.1 +6.0 6049 3.7 KLF17 RAD21 THRB YY1 RARA ZNF121 SCRT2 ETV6 FOS USF2 PITPNA INPP5K PITPNA-AS1 YWHAE SLC43A2 SCARF1 CRK WDR81 PIR42053
GH17F001616 1.5 FANTOM5 Ensembl ENCODE 28.7 -55.4 -55358 3.0 HDAC1 ATF1 PKNOX1 INSM2 KLF17 RAD21 ZNF121 ZNF366 SCRT2 KLF7 PITPNA SLC43A2 SCARF1 WDR81 CRK HIC1 GC17P001609
GH17F001624 1.2 FANTOM5 ENCODE 24.6 -64.7 -64661 6.1 HDGF PKNOX1 ARID4B SIN3A FEZF1 ZNF2 ZNF143 FOS ZNF263 SP3 PITPNA ENSG00000263050 SLC43A2 SRR ENSG00000262869 EIF4A1P9 SAMD11P1 SMG6 HNRNPA1P16 ENSG00000263345
GH17F001520 0.6 ENCODE 19.9 +41.4 41411 1.5 ZNF600 PRDM1 PITPNA MYO1C YWHAE INPP5K GC17M001526 PIR60547 PIR53156
- Elite enhancer/Elite enhancer-gene association Download Table
Download GeneHancer data dump

Enhancers around PITPNA on UCSC Golden Path with GeneCards custom track

Promoters for PITPNA Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00001533650 316 1801 HDGF PKNOX1 ATF1 CREB3L1 ARID4B SIN3A ZNF48 BRCA1 ZNF2 ZNF121

Genomic Location for PITPNA Gene

Chromosome:
17
Start:
1,517,718 bp from pter
End:
1,562,816 bp from pter
Size:
45,099 bases
Orientation:
Minus strand

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 Lys 86, Lys 178, Lys 201, and Lys 208
  • Modification sites at PhosphoSitePlus

Antibody Products

  • Abcam antibodies for PITPNA

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.

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 22822086
GO:0008526 phosphatidylinositol transporter activity IDA,TAS 22822086
GO:0031210 phosphatidylcholine binding IDA 22822086
GO:0035091 phosphatidylinositol binding IDA 22822086
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

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 PITPNA Gene

Localization for PITPNA Gene

Subcellular locations from UniProtKB/Swiss-Prot for PITPNA Gene

Cytoplasm.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for PITPNA Gene COMPARTMENTS Subcellular localization image for PITPNA gene
Compartment Confidence
extracellular 5
cytosol 4
endoplasmic reticulum 1
golgi apparatus 1
plasma membrane 1

Gene Ontology (GO) - Cellular Components for PITPNA Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IEA --
GO:0043209 myelin sheath IEA --
GO:0070062 extracellular exosome 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,IDA 22822086
GO:0007409 axonogenesis IEA --
GO:0007601 visual perception TAS 7914867
GO:0015914 phospholipid transport IDA 22822086
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-stearidonoyl-sn-glycero-3-phosphocholine
  • GPCho(16:0/18:4)
  • GPCho(16:0/18:4n3)
  • GPCho(16:0/18:4w3)
  • GPCho(34:4)
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:

Inhibitory RNA Products

Clone Products

Flow Cytometry 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 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.
genes like me logo Genes that share expression patterns with PITPNA: view

Primer Products

No data available for mRNA differential expression in normal tissues 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 34 35
  • 100 (n)
dog
(Canis familiaris)
Mammalia PITPNA 34 35
  • 94.07 (n)
mouse
(Mus musculus)
Mammalia Pitpna 34 16 35
  • 93.58 (n)
rat
(Rattus norvegicus)
Mammalia Pitpna 34
  • 93.21 (n)
cow
(Bos Taurus)
Mammalia PITPNA 34 35
  • 92.96 (n)
oppossum
(Monodelphis domestica)
Mammalia PITPNA 35
  • 90 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia PITPNA 35
  • 80 (a)
OneToOne
chicken
(Gallus gallus)
Aves PITPNA 35
  • 89 (a)
OneToOne
LOC100859747 34
  • 82.89 (n)
lizard
(Anolis carolinensis)
Reptilia PITPNA 35
  • 88 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia pitpna 34
  • 80 (n)
African clawed frog
(Xenopus laevis)
Amphibia pitpn-prov 34
zebrafish
(Danio rerio)
Actinopterygii pitpnaa 35
  • 79 (a)
OneToMany
pitpnab 34 35
  • 76.78 (n)
-- 34
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.529 34
fruit fly
(Drosophila melanogaster)
Insecta vib 35
  • 59 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea Y54F10AR.1 35
  • 58 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea CSA.9844 35
  • 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 Sequence Context AA Info Type
rs10521113 -- 1,530,464(-) AGGCT(C/T)GAAGA intron-variant
rs11078479 -- 1,527,055(+) ACCCA(A/G)CCCAT intron-variant
rs11078480 -- 1,528,525(+) GAGGA(C/T)CACTT intron-variant
rs11078486 -- 1,549,514(+) ggttt(C/T)gccat intron-variant
rs11078487 -- 1,549,516(+) tttcg(C/T)catgt intron-variant

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

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

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)

Relevant External Links 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

(3) 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
chylomicron retention disease
  • retinitis pigmentosa
- elite association - COSMIC cancer census association via MalaCards

Relevant External Links for PITPNA

Human Genome Epidemiology (HuGE) Navigator
PITPNA
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
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 S.K. … Yarbrough L.R. (Gene 1994) 3 4 22 64
  2. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard D.S. … Malek J. (Genome Res. 2004) 3 4 64
  3. Structure-function analysis of human phosphatidylinositol transfer protein alpha bound to phosphatidylinositol. (PMID: 14962392) Tilley S.J. … McDonald N.Q. (Structure 2004) 4 22 64
  4. Phosphatidylinositol transfer protein required for ATP-dependent priming of Ca(2+)-activated secretion. (PMID: 8255295) Hay J.C. … Martin T.F. (Nature 1993) 2 3 64
  5. Panorama of ancient metazoan macromolecular complexes. (PMID: 26344197) Wan C. … Emili A. (Nature 2015) 3 64

Products for PITPNA Gene

Sources for PITPNA Gene

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