Aliases for CPTP Gene

Aliases for CPTP Gene

  • Ceramide-1-Phosphate Transfer Protein 2 3 4 5
  • Glycolipid Transfer Protein Domain-Containing Protein 1 3 4
  • Glycolipid Transfer Protein Domain Containing 1 2 3
  • GLTP Domain-Containing Protein 1 3 4
  • GLTPD1 3 4
  • MGC10334 2
  • CPTP 5

External Ids for CPTP Gene

Previous HGNC Symbols for CPTP Gene

  • GLTPD1

Previous GeneCards Identifiers for CPTP Gene

  • GC01P001325
  • GC01P001391
  • GC01P001475
  • GC01P001633

Summaries for CPTP Gene

GeneCards Summary for CPTP Gene

CPTP (Ceramide-1-Phosphate Transfer Protein) is a Protein Coding gene. Diseases associated with CPTP include Coffin-Siris Syndrome 1. Among its related pathways are Sphingolipid metabolism and Metabolism. Gene Ontology (GO) annotations related to this gene include phospholipid binding and glycolipid binding. An important paralog of this gene is GLTPD2.

UniProtKB/Swiss-Prot Summary for CPTP Gene

  • Mediates the intracellular transfer of ceramide-1-phosphate (C1P) between organelle membranes and the cell membrane. Required for normal structure of the Golgi stacks. Can bind phosphoceramides with a variety of aliphatic chains, but has a preference for lipids with saturated C16:0 or monounsaturated C18:1 aliphatic chains, and is inefficient with phosphoceramides containing lignoceryl (C24:0). Plays a role in the regulation of the cellular levels of ceramide-1-phosphate, and thereby contributes to the regulation of phospholipase PLA2G4A activity and the release of arachidonic acid. Has no activity with galactosylceramide, lactosylceramide, sphingomyelin, phosphatidylcholine, phosphatidic acid and ceramide. C1P transfer is stimulated by phosphatidylserine in C1P source vesicles (PubMed:28011644). Regulates autophagy, inflammasome mediated IL1B and IL18 processing, and pyroptosis, but not apoptosis (PubMed:29164996).

No data available for Entrez Gene Summary , CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for CPTP Gene

Genomics for CPTP Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for CPTP 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
GH01J001323 Promoter/Enhancer 1.9 EPDnew Ensembl ENCODE CraniofacialAtlas 250.7 +0.0 45 3.6 SP1 ZNF207 MYC ZNF600 ZNF580 POLR2A ZNF223 ZIC2 MXD4 SMAD5 CPTP INTS11 lnc-ACAP3-2-002 ANKRD65 SCNN1D MRPL20 piR-56276 TAS1R3
GH01J001235 Enhancer 1.5 FANTOM5 ENCODE CraniofacialAtlas dbSUPER 5 -86.8 -86842 1.8 SSRP1 CEBPA ZIC2 ZBTB10 MXD4 CEBPB KLF11 HOMEZ KLF7 THAP11 B3GALT6 ATAD3B AURKAIP1 CPTP CDK11B PLEKHN1 HSALNG0000115 HSALNG0000116 piR-50893 C1QTNF12
GH01J001019 Promoter/Enhancer 2.6 EPDnew FANTOM5 Ensembl ENCODE CraniofacialAtlas dbSUPER 2 -304.0 -304035 3.4 ZNF207 MYC ZNF600 IKZF1 ZMYM3 KLF9 ZNF223 POLR2A NFIC ZIC2 AGRN HSALNG0000071 HSALNG0000072 ENSG00000272512 PLEKHN1 C1orf159 UBE2J2 DVL1 CPTP ISG15
GH01J001327 Enhancer 0.3 Ensembl 0.7 +2.8 2845 0.4 RBFOX2 piR-56276 piR-49897 ANKRD65 INTS11 CPTP TAS1R3
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

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

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

Genomic Locations for CPTP Gene

Latest Assembly
chr1:1,324,756-1,328,896
(GRCh38/hg38)
Size:
4,141 bases
Orientation:
Plus strand

Previous Assembly
chr1:1,260,182-1,264,276
(GRCh37/hg19 by Entrez Gene)
Size:
4,095 bases
Orientation:
Plus strand

chr1:1,260,136-1,264,277
(GRCh37/hg19 by Ensembl)
Size:
4,142 bases
Orientation:
Plus strand

Genomic View for CPTP Gene

Genes around CPTP on UCSC Golden Path with GeneCards custom track

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

RefSeq DNA sequence for CPTP Gene

Proteins for CPTP Gene

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

    Protein Symbol:
    Q5TA50-CPTP_HUMAN
    Recommended name:
    Ceramide-1-phosphate transfer protein
    Protein Accession:
    Q5TA50
    Secondary Accessions:
    • Q4G0E6
    • Q7L5A4

    Protein attributes for CPTP Gene

    Size:
    214 amino acids
    Molecular mass:
    24365 Da
    Quaternary structure:
    No Data Available
    SequenceCaution:
    • Sequence=EAW56230.1; Type=Erroneous gene model prediction; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for CPTP Gene

neXtProt entry for CPTP Gene

Post-translational modifications for CPTP Gene

No Post-translational modifications

Other Protein References for CPTP Gene

No data available for DME Specific Peptides for CPTP Gene

Domains & Families for CPTP Gene

Gene Families for CPTP Gene

Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Protein Domains for CPTP Gene

Suggested Antigen Peptide Sequences for CPTP Gene

GenScript: Design optimal peptide antigens:
  • Glycolipid transfer protein domain-containing protein 1 (GLTD1_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q5TA50

UniProtKB/Swiss-Prot:

CPTP_HUMAN :
  • Belongs to the GLTP family.
Family:
  • Belongs to the GLTP family.
genes like me logo Genes that share domains with CPTP: view

Function for CPTP Gene

Molecular function for CPTP Gene

UniProtKB/Swiss-Prot Function:
Mediates the intracellular transfer of ceramide-1-phosphate (C1P) between organelle membranes and the cell membrane. Required for normal structure of the Golgi stacks. Can bind phosphoceramides with a variety of aliphatic chains, but has a preference for lipids with saturated C16:0 or monounsaturated C18:1 aliphatic chains, and is inefficient with phosphoceramides containing lignoceryl (C24:0). Plays a role in the regulation of the cellular levels of ceramide-1-phosphate, and thereby contributes to the regulation of phospholipase PLA2G4A activity and the release of arachidonic acid. Has no activity with galactosylceramide, lactosylceramide, sphingomyelin, phosphatidylcholine, phosphatidic acid and ceramide. C1P transfer is stimulated by phosphatidylserine in C1P source vesicles (PubMed:28011644). Regulates autophagy, inflammasome mediated IL1B and IL18 processing, and pyroptosis, but not apoptosis (PubMed:29164996).
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=N-(hexadecanoyl)-sphing-4-enine-1-phosphate(in) = N-(hexadecanoyl)-sphing-4-enine-1-phosphate(out); Xref=Rhea:RHEA:45680, ChEBI:CHEBI:72963; Evidence={ECO:0000269|PubMed:23863933};.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=N-(9Z-octadecenoyl)-sphing-4-enine-1-phosphate(in) = N-(9Z-octadecenoyl)-sphing-4-enine-1-phosphate(out); Xref=Rhea:RHEA:45688, ChEBI:CHEBI:85378; Evidence={ECO:0000269|PubMed:23863933};.

Phenotypes From GWAS Catalog for CPTP Gene

Gene Ontology (GO) - Molecular Function for CPTP Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005543 phospholipid binding IDA 23863933
GO:0008289 lipid binding IEA --
GO:0120013 intermembrane lipid transfer activity IEA --
GO:1902387 ceramide 1-phosphate binding IDA 23863933
GO:1902388 ceramide 1-phosphate transporter activity TAS --
genes like me logo Genes that share ontologies with CPTP: view
genes like me logo Genes that share phenotypes with CPTP: view

miRNA for CPTP Gene

Inhibitory RNAs for research

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

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

Localization for CPTP Gene

Subcellular locations from UniProtKB/Swiss-Prot for CPTP Gene

Cytoplasm, cytosol. Golgi apparatus, trans-Golgi network membrane. Peripheral membrane protein. Cell membrane. Peripheral membrane protein. Cytoplasmic side. Endosome membrane. Peripheral membrane protein. Nucleus outer membrane. Peripheral membrane protein.

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 CPTP gene
Compartment Confidence
nucleus 4
cytosol 4
golgi apparatus 4
plasma membrane 3
endosome 3
extracellular 2
cytoskeleton 1
mitochondrion 1
endoplasmic reticulum 1
lysosome 1
peroxisome 0

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for CPTP Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IEA --
GO:0005640 nuclear outer membrane IEA --
GO:0005737 cytoplasm IEA --
GO:0005768 endosome IEA --
GO:0005794 Golgi apparatus IEA --
genes like me logo Genes that share ontologies with CPTP: view

Pathways & Interactions for CPTP Gene

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

Pathways by source for CPTP Gene

Interacting Proteins for CPTP Gene

STRING Interaction Network Preview (showing top 5 STRING interactants - click image to see top 7)
STRING Interaction Network
Selected Interacting proteins: ENSP00000343890 Q5TA50-CPTP_HUMAN for CPTP Gene via STRING IID

Gene Ontology (GO) - Biological Process for CPTP Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006687 glycosphingolipid metabolic process TAS --
GO:0006869 lipid transport IEA --
GO:0010507 negative regulation of autophagy IMP 29164996
GO:0032691 negative regulation of interleukin-1 beta production IEA,IMP 29164996
GO:0035627 ceramide transport IBA 21873635
genes like me logo Genes that share ontologies with CPTP: view

No data available for SIGNOR curated interactions for CPTP Gene

Drugs & Compounds for CPTP Gene

(5) Drugs for CPTP Gene - From: HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Ceramide NG Experimental Pharma 0
Phytosphingosine Experimental Pharma 0
Sphingosine Experimental Pharma 0
sphinganine Pharma 0
Sphingosine-1-phosphate Pharma endogenous second messenger and ligand for S1PR1, Endogenous agonist at S1P1-5 0

(509) Additional Compounds for CPTP Gene - From: HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
3-Dehydrosphinganine
  • 3-Dehydro-D-sphinganine
  • 3-Ketodihydrosphingosine
  • 3-Ketosphinganine
  • (2S)-2-Amino-1-hydroxyoctadecan-3-one
  • 1-Hydroxy-2-amino-3-oxo-octadecane
16105-69-4
3-O-Sulfogalactosylceramide (d18:1/12:0)
  • 3-O-Sulphogalactosylceramide (D18:1/12:0)
  • 3'-O-Sulphogalactosylceramide
  • 3-O-SulfO-beta-D-galactosylceramide
  • 3-O-SulfO-beta-delta-galactosylceramide
  • 3-O-Sulfogalactosylceramide
852100-88-0
3-O-Sulfogalactosylceramide (d18:1/14:0)
  • 3-O-Sulphogalactosylceramide (D18:1/14:0)
  • 3'-O-Sulphogalactosylceramide
  • 3-O-SulfO-beta-D-galactosylceramide
  • 3-O-SulfO-beta-delta-galactosylceramide
  • 3-O-Sulfogalactosylceramide
3-O-Sulfogalactosylceramide (d18:1/16:0)
  • 3-O-Sulphogalactosylceramide (D18:1/16:0)
  • 3'-O-Sulphogalactosylceramide
  • 3-O-SulfO-beta-D-galactosylceramide
  • 3-O-SulfO-beta-delta-galactosylceramide
  • 3-O-Sulfogalactosylceramide
862509-48-6
3-O-Sulfogalactosylceramide (d18:1/18:0)
  • 3-O-Sulphogalactosylceramide (D18:1/18:0)
  • 3'-O-Sulphogalactosylceramide
  • 3-O-SulfO-beta-D-galactosylceramide
  • 3-O-SulfO-beta-delta-galactosylceramide
  • 3-O-Sulfogalactosylceramide
244215-65-4
genes like me logo Genes that share compounds with CPTP: view

Transcripts for CPTP Gene

mRNA/cDNA for CPTP Gene

1 REFSEQ mRNAs :
5 NCBI additional mRNA sequence :
3 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 CPTP

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

No ASD Table

Relevant External Links for CPTP Gene

GeneLoc Exon Structure for
CPTP

Expression for CPTP Gene

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

Protein differential expression in normal tissues from HIPED for CPTP Gene

This gene is overexpressed in Bone (52.1).

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



Transcriptomic regulation report from SPP (The Signaling Pathways Project) for CPTP

mRNA Expression by UniProt/SwissProt for CPTP Gene:

Q5TA50-CPTP_HUMAN
Tissue specificity: Ubiquitous. Detected in heart, brain, placenta, lung, liver, skeletal muscle, kidney, pancreas, spleen, thymus, prostate, testis, ovary, small intestine, colon and peripheral blood leukocytes.

Evidence on tissue expression from TISSUES for CPTP Gene

  • Liver(4.3)
genes like me logo Genes that share expression patterns with CPTP: view

Primer products for research

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , Protein tissue co-expression partners and Phenotype-based relationships between genes and organs from Gene ORGANizer for CPTP Gene

Orthologs for CPTP Gene

This gene was present in the common ancestor of animals.

Orthologs for CPTP Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia GLTPD1 29 30
  • 99.22 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia GLTPD1 29 30
  • 83.96 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia GLTPD1 29 30
  • 83.49 (n)
OneToOne
Mouse
(Mus musculus)
Mammalia Gltpd1 29 30
  • 81.15 (n)
OneToOne
Cptp 16
Rat
(Rattus norvegicus)
Mammalia Gltpd1 29
  • 78.82 (n)
Platypus
(Ornithorhynchus anatinus)
Mammalia GLTPD1 30
  • 73 (a)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia GLTPD1 30
  • 62 (a)
OneToOne
Chicken
(Gallus gallus)
Aves GLTPD1 29 30
  • 74.14 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia GLTPD1 30
  • 65 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia gltpd1 29
  • 60.59 (n)
Zebrafish
(Danio rerio)
Actinopterygii gltpd1 29 30
  • 60.74 (n)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP005990 29
  • 52.67 (n)
Fruit Fly
(Drosophila melanogaster)
Insecta CG30392 29 30
  • 48.06 (n)
OneToMany
Worm
(Caenorhabditis elegans)
Secernentea tag-296 29 30
  • 44.52 (n)
ManyToMany
K08E4.2 30
  • 27 (a)
ManyToMany
Sea Squirt
(Ciona savignyi)
Ascidiacea CSA.402 30
  • 22 (a)
OneToMany
Species where no ortholog for CPTP was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium 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 (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • 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 CPTP Gene

ENSEMBL:
Gene Tree for CPTP (if available)
TreeFam:
Gene Tree for CPTP (if available)
Aminode:
Evolutionary constrained regions (ECRs) for CPTP: view image
Alliance of Genome Resources:
Additional Orthologs for CPTP

Paralogs for CPTP Gene

Paralogs for CPTP Gene

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

Variants for CPTP Gene

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

SNP ID Clinical significance and condition Chr 01 pos Variation AA Info Type
rs1569622035 Uncertain Significance: not provided 1,327,311(+) G/T
NM_001029885.2(CPTP):c.193G>T (p.Glu65Ter)
NONSENSE

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

Variant ID Type Subtype PubMed ID
dgv26n54 CNV loss 21841781
dgv2n67 CNV gain 20364138
dgv6n100 CNV gain+loss 25217958
dgv7n100 CNV loss 25217958
esv2758912 CNV loss 17122850
esv3584992 CNV gain 21293372
esv3890636 CNV loss 25118596
nsv1000169 CNV gain 25217958
nsv1009541 CNV gain 25217958
nsv10161 CNV gain+loss 18304495
nsv1160772 CNV duplication 26073780
nsv1160788 CNV deletion 26073780
nsv470680 CNV loss 18288195
nsv482937 CNV loss 15286789
nsv544969 CNV loss 21841781
nsv544971 CNV loss 21841781
nsv544972 CNV loss 21841781
nsv950452 CNV deletion 24416366
nsv997291 CNV gain 25217958

Variation tolerance for CPTP Gene

Residual Variation Intolerance Score: 91.8% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.28; 25.50% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for CPTP Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
CPTP
Leiden Open Variation Database (LOVD)
CPTP

SNP Genotyping and Copy Number Assays for research

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

Disorders for CPTP Gene

MalaCards: The human disease database

(1) MalaCards diseases for CPTP Gene - From: COP

Disorder Aliases PubMed IDs
coffin-siris syndrome 1
  • css1
- elite association - COSMIC cancer census association via MalaCards
Search CPTP in MalaCards View complete list of genes associated with diseases

Additional Disease Information for CPTP

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

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

Publications for CPTP Gene

  1. Non-vesicular trafficking by a ceramide-1-phosphate transfer protein regulates eicosanoids. (PMID: 23863933) Simanshu DK … Patel DJ (Nature 2013) 2 3 4
  2. CPTP: A sphingolipid transfer protein that regulates autophagy and inflammasome activation. (PMID: 29164996) Mishra SK … Brown RE (Autophagy 2018) 3 4
  3. Phosphatidylserine Stimulates Ceramide 1-Phosphate (C1P) Intermembrane Transfer by C1P Transfer Proteins. (PMID: 28011644) Zhai X … Brown RE (The Journal of biological chemistry 2017) 4
  4. An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome. (PMID: 24275569) Bian Y … Zou H (Journal of proteomics 2014) 4
  5. Toward an understanding of the protein interaction network of the human liver. (PMID: 21988832) Wang J … Yang X (Molecular systems biology 2011) 3

Products for CPTP Gene

Sources for CPTP Gene