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Aliases for PITPNC1 Gene

Aliases for PITPNC1 Gene

  • Phosphatidylinositol Transfer Protein Cytoplasmic 1 2 3
  • Phosphatidylinositol Transfer Protein, Cytoplasmic 1 2 5
  • Retinal Degeneration B Homolog Beta 3 4
  • Mammalian RdgB Homolog Beta 3 4
  • M-RdgB Beta 3 4
  • Cytoplasmic Phosphatidylinositol Transfer Protein 1 3
  • Retinal Degeneration B Beta 1 3
  • M-RDGB-Beta 3
  • MRDGBbeta 3
  • RDGB-BETA 3
  • MrdgBbeta 4
  • RdgBbeta 4
  • RDGBB1 3
  • RDGBB 3

External Ids for PITPNC1 Gene

Previous GeneCards Identifiers for PITPNC1 Gene

  • GC17P065791
  • GC17P065924
  • GC17P062804
  • GC17P065373
  • GC17P060760

Summaries for PITPNC1 Gene

Entrez Gene Summary for PITPNC1 Gene

  • This gene encodes a member of the phosphatidylinositol transfer protein family. The encoded cytoplasmic protein plays a role in multiple processes including cell signaling and lipid metabolism by facilitating the transfer of phosphatidylinositol between membrane compartments. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene, and a pseudogene of this gene is located on the long arm of chromosome 1. [provided by RefSeq, May 2012]

GeneCards Summary for PITPNC1 Gene

PITPNC1 (Phosphatidylinositol Transfer Protein Cytoplasmic 1) is a Protein Coding gene. Gene Ontology (GO) annotations related to this gene include lipid binding and phosphatidylinositol transporter activity. An important paralog of this gene is PITPNM1.

UniProtKB/Swiss-Prot for PITPNC1 Gene

  • Phosphatidylinositol transfer proteins mediate the monomeric transport of lipids by shielding a lipid from the aqueous environment and binding the lipid in a hydrophobic cavity. Able to transfer phosphatidylinositol in vitro.

Additional gene information for PITPNC1 Gene

No data available for CIViC summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for PITPNC1 Gene

Genomics for PITPNC1 Gene

GeneHancer (GH) Regulatory Elements for PITPNC1 Gene

Promoters and enhancers for PITPNC1 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
GH17J067364 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE dbSUPER 650.4 -11.5 -11522 3.1 DMAP1 YY1 SLC30A9 ZNF143 SP3 NFYC ZNF610 GLIS1 NBN KDM1A PSMD12 PITPNC1 BPTF HELZ ENSG00000267731 NOL11 ENSG00000264421 RPL36AP48 FBXO36P1 GC17M067328
GH17J067375 Promoter/Enhancer 2.2 EPDnew Ensembl ENCODE dbSUPER 659.6 +0.6 593 4.1 HDGF ARNT ARID4B SIN3A DMAP1 ZNF2 ZBTB7B YY1 ZNF143 ZNF263 PITPNC1 GC17P067378 GC17P067379 HELZ NOL11 BPTF ENSG00000201547
GH17J067473 Enhancer 1.6 FANTOM5 Ensembl ENCODE dbSUPER 22.7 +99.6 99618 6.6 PKNOX1 ARID4B SIN3A ZNF2 IRF4 YY1 ZNF213 ZNF143 RUNX3 RXRA PITPNC1 PSMD12 HELZ BPTF GC17P067472 MIR548D2 ENSG00000264754
GH17J067418 Enhancer 1.6 FANTOM5 Ensembl ENCODE dbSUPER 19.4 +45.2 45213 7.3 BATF IRF4 BRCA1 ZBTB40 RFX5 YY1 ZNF121 ELK1 ZNF366 SCRT2 PITPNC1 PSMD12 MIR548AA2 MIR548D2 HELZ BPTF ENSG00000201547 RN7SL756P
GH17J067388 Enhancer 1.7 FANTOM5 Ensembl ENCODE dbSUPER 11.4 +14.2 14248 5.6 PKNOX1 FOXA2 SMAD1 IRF4 YY1 ZNF121 E2F8 ATF7 FOS RUNX3 HELZ NOL11 BPTF PITPNC1 LOC100418928 GC17P067378 GC17P067379 ENSG00000201547
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around PITPNC1 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the PITPNC1 gene promoter:
  • HEN1
  • HSF1 (long)
  • HSF1short
  • ATF-2
  • CRE-BP1
  • FOXO3
  • FOXO3a
  • FOXO3b
  • Egr-4
  • Pax-5

Genomic Locations for PITPNC1 Gene

Genomic Locations for PITPNC1 Gene
chr17:67,377,281-67,697,263
(GRCh38/hg38)
Size:
319,983 bases
Orientation:
Plus strand
chr17:65,373,575-65,693,372
(GRCh37/hg19)
Size:
319,798 bases
Orientation:
Plus strand

Genomic View for PITPNC1 Gene

Genes around PITPNC1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
PITPNC1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for PITPNC1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for PITPNC1 Gene

Proteins for PITPNC1 Gene

  • Protein details for PITPNC1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9UKF7-PITC1_HUMAN
    Recommended name:
    Cytoplasmic phosphatidylinositol transfer protein 1
    Protein Accession:
    Q9UKF7
    Secondary Accessions:
    • A8K473
    • J3QR20
    • Q96I07

    Protein attributes for PITPNC1 Gene

    Size:
    332 amino acids
    Molecular mass:
    38388 Da
    Quaternary structure:
    No Data Available

    Alternative splice isoforms for PITPNC1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for PITPNC1 Gene

Post-translational modifications for PITPNC1 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for PITPNC1 Gene

Domains & Families for PITPNC1 Gene

Gene Families for PITPNC1 Gene

Protein Domains for PITPNC1 Gene

Suggested Antigen Peptide Sequences for PITPNC1 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q9UKF7

UniProtKB/Swiss-Prot:

PITC1_HUMAN :
  • Belongs to the PtdIns transfer protein family. PI transfer class IIB subfamily.
Family:
  • Belongs to the PtdIns transfer protein family. PI transfer class IIB subfamily.
genes like me logo Genes that share domains with PITPNC1: view

Function for PITPNC1 Gene

Molecular function for PITPNC1 Gene

UniProtKB/Swiss-Prot Function:
Phosphatidylinositol transfer proteins mediate the monomeric transport of lipids by shielding a lipid from the aqueous environment and binding the lipid in a hydrophobic cavity. Able to transfer phosphatidylinositol in vitro.

Phenotypes From GWAS Catalog for PITPNC1 Gene

Gene Ontology (GO) - Molecular Function for PITPNC1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 16189514
GO:0005548 phospholipid transporter activity IEA --
GO:0008289 lipid binding IEA --
GO:0008525 NOT phosphatidylcholine transporter activity IDA 22822086
GO:0008526 phosphatidylinositol transporter activity IMP 10531358
genes like me logo Genes that share ontologies with PITPNC1: view
genes like me logo Genes that share phenotypes with PITPNC1: view

Animal Model Products

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for PITPNC1

Clone Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for PITPNC1 Gene

Localization for PITPNC1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for PITPNC1 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 PITPNC1 gene
Compartment Confidence
nucleus 5
cytosol 5
endoplasmic reticulum 1

Subcellular locations from the

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

Gene Ontology (GO) - Cellular Components for PITPNC1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005622 intracellular IEA --
GO:0005654 nucleoplasm IDA --
GO:0005737 cytoplasm IEA,IDA 10531358
GO:0005829 cytosol IDA --
genes like me logo Genes that share ontologies with PITPNC1: view

Pathways & Interactions for PITPNC1 Gene

SuperPathways for PITPNC1 Gene

No Data Available

Interacting Proteins for PITPNC1 Gene

Gene Ontology (GO) - Biological Process for PITPNC1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006869 lipid transport IEA --
GO:0007165 signal transduction IMP 10531358
GO:0015914 phospholipid transport IEA,IDA 22822086
genes like me logo Genes that share ontologies with PITPNC1: view

No data available for Pathways by source and SIGNOR curated interactions for PITPNC1 Gene

Drugs & Compounds for PITPNC1 Gene

(379) Additional Compounds for PITPNC1 Gene - From: HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
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
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(32:0)
PI(16:0/16:1(9Z))
  • 1-Hexadecanoyl-2-(9Z-hexadecenoyl)-sn-glycero-3-phospho-(1'-myo-inositol)
  • 1-Palmitoyl-2-palmitoleoyl-sn-glycero-3-phosphoinositol
  • Phosphatidylinositol(16:0/16:1)
  • Phosphatidylinositol(16:0/16:1n7)
  • Phosphatidylinositol(16:0/16:1W7)
PI(16:0/16:2(9Z,12Z))
  • 1-Hexadecanoyl-2-(9Z,12Z-hexadecadienoate
  • 1-Hexadecanoyl-2-(9Z,12Z-hexadecadienoate)-sn-glycero-3-phospho-(1'-myo-inositol)
  • 1-Hexadecanoyl-2-(9Z,12Z-hexadecadienoic acid
  • 1-Palmitoyl-2-(9Z,12Z-hexadecadienoate
  • 1-Palmitoyl-2-(9Z,12Z-hexadecadienoate)-sn-glycero-3-phosphoinositol
PI(16:0/18:0)
  • 1-Hexadecanoyl-2-octadecanoyl-sn-glycero-3-phospho-(1'-myo-inositol)
  • 1-Palmitoyl-2-stearoyl-sn-glycero-3-phosphoinositol
  • Phosphatidylinositol(16:0/18:0)
  • Phosphatidylinositol(34:0)
  • PI(34:0)
genes like me logo Genes that share compounds with PITPNC1: view

Transcripts for PITPNC1 Gene

Unigene Clusters for PITPNC1 Gene

Phosphatidylinositol transfer protein, cytoplasmic 1:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for PITPNC1

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for PITPNC1 Gene

ExUns: 1 ^ 2 ^ 3 ^ 4 ^ 5a · 5b ^ 6 ^ 7 ^ 8a · 8b ^ 9a · 9b ^ 10 ^ 11 ^ 12a · 12b
SP1: - - - -
SP2:
SP3:
SP4: -
SP5: - -

Relevant External Links for PITPNC1 Gene

GeneLoc Exon Structure for
PITPNC1
ECgene alternative splicing isoforms for
PITPNC1

Expression for PITPNC1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for PITPNC1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for PITPNC1 Gene

This gene is overexpressed in Peripheral blood mononuclear cells (19.0), Spinal cord (9.8), Fetal Brain (7.2), and Retina (6.3).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for PITPNC1 Gene



Protein tissue co-expression partners for PITPNC1 Gene

NURSA nuclear receptor signaling pathways regulating expression of PITPNC1 Gene:

PITPNC1

SOURCE GeneReport for Unigene cluster for PITPNC1 Gene:

Hs.591185

mRNA Expression by UniProt/SwissProt for PITPNC1 Gene:

Q9UKF7-PITC1_HUMAN
Tissue specificity: Ubiquitously expressed.

Evidence on tissue expression from TISSUES for PITPNC1 Gene

  • Nervous system(4.6)
  • Eye(4.4)
  • Liver(4.2)
  • Skin(4.1)
genes like me logo Genes that share expression patterns with PITPNC1: view

No data available for mRNA differential expression in normal tissues and Phenotype-based relationships between genes and organs from Gene ORGANizer for PITPNC1 Gene

Orthologs for PITPNC1 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for PITPNC1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia PITPNC1 34 33
  • 99.7 (n)
OneToOne
dog
(Canis familiaris)
Mammalia PITPNC1 34 33
  • 93.69 (n)
OneToOne
cow
(Bos Taurus)
Mammalia PITPNC1 33
  • 93.57 (n)
mouse
(Mus musculus)
Mammalia Pitpnc1 34
  • 90 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia PITPNC1 34
  • 89 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia PITPNC1 34
  • 84 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Pitpnc1 33
  • 83.82 (n)
chicken
(Gallus gallus)
Aves -- 34
  • 90 (a)
OneToMany
-- 34
  • 90 (a)
OneToMany
-- 34
  • 72 (a)
OneToMany
LOC427652 33
  • 68.58 (n)
lizard
(Anolis carolinensis)
Reptilia -- 34
  • 89 (a)
OneToMany
-- 34
  • 79 (a)
OneToMany
-- 34
  • 78 (a)
OneToMany
-- 34
  • 69 (a)
OneToMany
tropical clawed frog
(Silurana tropicalis)
Amphibia pitpnc1 33
  • 75.68 (n)
Str.15136 33
zebrafish
(Danio rerio)
Actinopterygii PITPNC1 34
  • 80 (a)
OneToOne
LOC563621 33
  • 71.9 (n)
Dr.29025 33
fruit fly
(Drosophila melanogaster)
Insecta rdgBbeta 34 33
  • 63.99 (n)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP004469 33
  • 61.35 (n)
worm
(Caenorhabditis elegans)
Secernentea pitp-1 34
  • 12 (a)
OneToOne
rice
(Oryza sativa)
Liliopsida Os03g0287100 33
  • 47.49 (n)
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 62 (a)
OneToOne
Cin.1477 33
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.1477 33
Species where no ortholog for PITPNC1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • 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)
  • rainbow trout (Oncorhynchus mykiss)
  • 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 PITPNC1 Gene

ENSEMBL:
Gene Tree for PITPNC1 (if available)
TreeFam:
Gene Tree for PITPNC1 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for PITPNC1: view image

Paralogs for PITPNC1 Gene

Paralogs for PITPNC1 Gene

(4) SIMAP similar genes for PITPNC1 Gene using alignment to 6 proteins:

  • PITC1_HUMAN
  • E7EU35_HUMAN
  • J3QR20_HUMAN
  • J3QRS7_HUMAN
  • J3QS95_HUMAN
  • J9JID9_HUMAN

Pseudogenes.org Pseudogenes for PITPNC1 Gene

genes like me logo Genes that share paralogs with PITPNC1: view

Variants for PITPNC1 Gene

Sequence variations from dbSNP and Humsavar for PITPNC1 Gene

SNP ID Clin Chr 17 pos Variation AA Info Type
rs1000007752 -- 67,554,118(+) G/A intron_variant
rs1000020659 -- 67,431,146(+) C/G genic_upstream_transcript_variant, intron_variant
rs1000029805 -- 67,438,218(+) T/C genic_upstream_transcript_variant, intron_variant
rs1000057782 -- 67,609,579(+) C/T intron_variant
rs1000062940 -- 67,472,281(+) G/A genic_upstream_transcript_variant, intron_variant

Structural Variations from Database of Genomic Variants (DGV) for PITPNC1 Gene

Variant ID Type Subtype PubMed ID
dgv5751n54 CNV loss 21841781
dgv5752n54 CNV loss 21841781
dgv5753n54 CNV loss 21841781
dgv964e212 CNV loss 25503493
dgv965e212 CNV loss 25503493
esv1090676 CNV deletion 17803354
esv2132459 CNV deletion 18987734
esv23559 CNV loss 19812545
esv25094 CNV loss 19812545
esv2578455 CNV deletion 19546169
esv2657464 CNV deletion 23128226
esv2658358 CNV deletion 23128226
esv2663225 CNV deletion 23128226
esv2663417 CNV deletion 23128226
esv2668765 CNV deletion 23128226
esv2761973 CNV loss 21179565
esv3230 CNV loss 18987735
esv3554675 CNV deletion 23714750
esv3554679 CNV deletion 23714750
esv3554681 CNV deletion 23714750
esv3554682 CNV deletion 23714750
esv3641087 CNV loss 21293372
esv3641088 CNV loss 21293372
esv3641089 CNV loss 21293372
esv3641090 CNV loss 21293372
esv3641091 CNV loss 21293372
esv3641092 CNV loss 21293372
esv3641093 CNV loss 21293372
esv3641094 CNV loss 21293372
esv3641097 CNV loss 21293372
esv3893036 CNV gain 25118596
esv8059 CNV loss 19470904
nsv1066511 CNV gain 25217958
nsv1071399 CNV deletion 25765185
nsv1116414 CNV deletion 24896259
nsv111730 CNV deletion 16902084
nsv111972 CNV deletion 16902084
nsv1120054 OTHER inversion 24896259
nsv112354 CNV deletion 16902084
nsv1127592 CNV deletion 24896259
nsv1138569 CNV deletion 24896259
nsv1148756 CNV deletion 26484159
nsv2127 CNV insertion 18451855
nsv471703 CNV gain 15918152
nsv510722 CNV deletion 20534489
nsv527795 CNV loss 19592680
nsv575903 CNV loss 21841781
nsv575915 CNV gain 21841781
nsv833522 CNV gain+loss 17160897
nsv955433 CNV deletion 24416366

Variation tolerance for PITPNC1 Gene

Residual Variation Intolerance Score: 30.4% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.40; 8.70% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for PITPNC1 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
PITPNC1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for PITPNC1 Gene

Disorders for PITPNC1 Gene

Additional Disease Information for PITPNC1

No disorders were found for PITPNC1 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for PITPNC1 Gene

Publications for PITPNC1 Gene

  1. Cloning and characterization of a novel human phosphatidylinositol transfer protein, rdgBbeta. (PMID: 10531358) Fullwood Y … Hsuan JJ (The Journal of biological chemistry 1999) 2 3 4 58
  2. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 58
  3. PITPNC1 Recruits RAB1B to the Golgi Network to Drive Malignant Secretion. (PMID: 26977884) Halberg N … Tavazoie SF (Cancer cell 2016) 3 58
  4. A human interactome in three quantitative dimensions organized by stoichiometries and abundances. (PMID: 26496610) Hein MY … Mann M (Cell 2015) 3 58
  5. A proteome-scale map of the human interactome network. (PMID: 25416956) Rolland T … Vidal M (Cell 2014) 3 58

Products for PITPNC1 Gene

Sources for PITPNC1 Gene

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