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CPTP ceramide-1-phosphate transfer protein [ Homo sapiens (human) ]

Gene ID: 80772, updated on 17-Jun-2019

Summary

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Official Symbol
CPTPprovided by HGNC
Official Full Name
ceramide-1-phosphate transfer proteinprovided by HGNC
Primary source
HGNC:HGNC:28116
See related
Ensembl:ENSG00000224051 MIM:615467
Gene type
protein coding
RefSeq status
VALIDATED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
GLTPD1
Expression
Broad expression in testis (RPKM 11.0), colon (RPKM 8.1) and 25 other tissues See more
Orthologs
mouse all

Genomic context

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See CPTP in Genome Data Viewer
Location:
1p36.33
Exon count:
4
Annotation release Status Assembly Chr Location
109.20190607 current GRCh38.p13 (GCF_000001405.39) 1 NC_000001.11 (1324757..1328896)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (1260136..1264276)

Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene pseudouridine synthase like 1 Neighboring gene integrator complex subunit 11 Neighboring gene microRNA 6727 Neighboring gene taste 1 receptor member 3 Neighboring gene dishevelled segment polarity protein 1 Neighboring gene microRNA 6808

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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Related articles in PubMed

  1. CPTP: A sphingolipid transfer protein that regulates autophagy and inflammasome activation. Mishra SK, et al. Autophagy, 2018. PMID 29164996, Free PMC Article
  2. Non-vesicular trafficking by a ceramide-1-phosphate transfer protein regulates eicosanoids. Simanshu DK, et al. Nature, 2013 Aug 22. PMID 23863933, Free PMC Article
  3. A germline-specific class of small RNAs binds mammalian Piwi proteins. Girard A, et al. Nature, 2006 Jul 13. PMID 16751776
  4. Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study. Bailey SD, et al. Diabetes Care, 2010 Oct. PMID 20628086, Free PMC Article
  5. Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip. Talmud PJ, et al. Am J Hum Genet, 2009 Nov. PMID 19913121, Free PMC Article

See all (8) citations in PubMed

See citations in PubMed for homologs of this gene provided by HomoloGene

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

  1. a ubiquitously expressed lipid transfer protein, human GLTPD1, named here CPTP, is shown to specifically transfer C1P between membranes.
    Title: Non-vesicular trafficking by a ceramide-1-phosphate transfer protein regulates eicosanoids.
  2. Observational study of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator)
    Title: Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study.
  3. Observational study of gene-disease association. (HuGE Navigator)
    Title: Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip.
Submit: New GeneRIF Correction

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

Pathways from BioSystems

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  • Glycosphingolipid metabolism, organism-specific biosystem (from REACTOME)
    Glycosphingolipid metabolism, organism-specific biosystemThe steps involved in the synthesis of glycosphingolipids (sphingolipids with one or more sugars attached) are annotated here (Gault et al. 2010).
  • Metabolism, organism-specific biosystem (from REACTOME)
    Metabolism, organism-specific biosystemMetabolic processes in human cells generate energy through the oxidation of molecules consumed in the diet and mediate the synthesis of diverse essential molecules not taken in the diet as well as th...
  • Metabolism of lipids and lipoproteins, organism-specific biosystem (from REACTOME)
    Metabolism of lipids and lipoproteins, organism-specific biosystemLipids are hydrophobic but otherwise chemically diverse molecules that play a wide variety of roles in human biology. They include ketone bodies, fatty acids, triacylglycerols, phospholipids and sphi...
  • Sphingolipid metabolism, organism-specific biosystem (from REACTOME)
    Sphingolipid metabolism, organism-specific biosystemSphingolipids are derivatives of long chain sphingoid bases such as sphingosine (trans-1,3-dihydroxy 2-amino-4-octadecene), an 18-carbon unsaturated amino alcohol which is the most abundant sphingoid...

Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Homology

Clone Names

  • MGC10334

Gene Ontology Provided by GOA

Function Evidence Code Pubs
ceramide 1-phosphate binding IBA
Inferred from Biological aspect of Ancestor
more info
 PubMed 
ceramide 1-phosphate binding IDA
Inferred from Direct Assay
more info
 PubMed 
ceramide 1-phosphate transporter activity IBA
Inferred from Biological aspect of Ancestor
more info
 PubMed 
ceramide 1-phosphate transporter activity IDA
Inferred from Direct Assay
more info
 PubMed 
ceramide 1-phosphate transporter activity TAS
Traceable Author Statement
more info
  
lipid binding IBA
Inferred from Biological aspect of Ancestor
more info
 PubMed 
phospholipid binding IDA
Inferred from Direct Assay
more info
 PubMed 
Process Evidence Code Pubs
ceramide 1-phosphate transport IDA
Inferred from Direct Assay
more info
 PubMed 
ceramide transport IBA
Inferred from Biological aspect of Ancestor
more info
 PubMed 
NOT glycolipid transport IDA
Inferred from Direct Assay
more info
 PubMed 
glycosphingolipid metabolic process TAS
Traceable Author Statement
more info
  
intermembrane lipid transfer IBA
Inferred from Biological aspect of Ancestor
more info
 PubMed 
negative regulation of NLRP3 inflammasome complex assembly IMP
Inferred from Mutant Phenotype
more info
 PubMed 
negative regulation of autophagy IMP
Inferred from Mutant Phenotype
more info
 PubMed 
negative regulation of interleukin-1 beta secretion IMP
Inferred from Mutant Phenotype
more info
 PubMed 
Component Evidence Code Pubs
Golgi apparatus IEA
Inferred from Electronic Annotation
more info
  
cytosol IBA
Inferred from Biological aspect of Ancestor
more info
 PubMed 
cytosol IDA
Inferred from Direct Assay
more info
  
cytosol TAS
Traceable Author Statement
more info
  
endosome membrane IEA
Inferred from Electronic Annotation
more info
  
nuclear outer membrane IEA
Inferred from Electronic Annotation
more info
  
plasma membrane IEA
Inferred from Electronic Annotation
more info
  

General protein information

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Preferred Names
ceramide-1-phosphate transfer protein
Names
GLTP domain-containing protein 1
glycolipid transfer protein domain containing 1
glycolipid transfer protein domain-containing protein 1

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

  1. NM_001029885.2 → NP_001025056.1  ceramide-1-phosphate transfer protein

    See identical proteins and their annotated locations for NP_001025056.1

    Status: VALIDATED

    Source sequence(s)
    AL139287
    Consensus CDS
    CCDS30555.1
    UniProtKB/Swiss-Prot
    Q5TA50
    UniProtKB/TrEMBL
    S4S694
    Related
    ENSP00000343890.4, ENST00000343938.9
    Conserved Domains (1) summary
    pfam08718
    Location:30 → 177
    GLTP; Glycolipid transfer protein (GLTP)

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000001.11 Reference GRCh38.p13 Primary Assembly

    Range
    1324757..1328896
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_005244802.2 → XP_005244859.1  ceramide-1-phosphate transfer protein isoform X2

    Conserved Domains (1) summary
    pfam08718
    Location:10 → 114
    GLTP; Glycolipid transfer protein (GLTP)

  2. XM_005244801.4 → XP_005244858.1  ceramide-1-phosphate transfer protein isoform X1

    See identical proteins and their annotated locations for XP_005244858.1

    UniProtKB/Swiss-Prot
    Q5TA50
    UniProtKB/TrEMBL
    S4S694
    Conserved Domains (1) summary
    pfam08718
    Location:30 → 177
    GLTP; Glycolipid transfer protein (GLTP)

  3. XM_011542200.2 → XP_011540502.1  ceramide-1-phosphate transfer protein isoform X1

    See identical proteins and their annotated locations for XP_011540502.1

    UniProtKB/Swiss-Prot
    Q5TA50
    UniProtKB/TrEMBL
    S4S694
    Conserved Domains (1) summary
    pfam08718
    Location:30 → 177
    GLTP; Glycolipid transfer protein (GLTP)
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q5TA50.1 GenPept UniProtKB/Swiss-Prot:Q5TA50

Gene LinkOut

The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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