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

Gene ID: 80772, updated on 11-Apr-2024

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; AllianceGenome:HGNC:28116
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
Summary
Enables ceramide 1-phosphate binding activity and ceramide 1-phosphate transfer activity. Involved in several processes, including ceramide 1-phosphate transport; negative regulation of NLRP3 inflammasome complex assembly; and negative regulation of interleukin-1 beta production. Located in cytosol. [provided by Alliance of Genome Resources, Apr 2022]
Expression
Broad expression in testis (RPKM 11.0), colon (RPKM 8.1) and 25 other tissues See more
Orthologs
mouse all
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Genomic context

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Location:
1p36.33
Exon count:
3
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (1324802..1328896)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (756387..760481)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (1260182..1264276)

Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 55 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 56 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 57 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 58 Neighboring gene pseudouridine synthase like 1 Neighboring gene integrator complex subunit 11 Neighboring gene microRNA 6727 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:1253662-1254352 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:1254353-1255043 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:1257229-1257737 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:1258501-1259010 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 59 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 60 Neighboring gene taste 1 receptor member 3 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 61 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. Human CPTP promotes growth and metastasis via sphingolipid metabolite ceramide and PI4KA/AKT signaling in pancreatic cancer cells. Zhang Y, et al. Int J Biol Sci, 2022. PMID 35982909, Free PMC Article
  2. Ceramide-1-phosphate and its transfer proteins in eukaryotes. Zhang Y, et al. Chem Phys Lipids, 2021 Oct. PMID 34499882
  3. Ceramide-1-phosphate transfer protein (CPTP) regulation by phosphoinositides. Gao YG, et al. J Biol Chem, 2021 Jan-Jun. PMID 33781749, Free PMC Article
  4. CPTP: A sphingolipid transfer protein that regulates autophagy and inflammasome activation. Mishra SK, et al. Autophagy, 2018. PMID 29164996, Free PMC Article
  5. 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

See all (11) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Human CPTP promotes growth and metastasis via sphingolipid metabolite ceramide and PI4KA/AKT signaling in pancreatic cancer cells.
    Title: Human CPTP promotes growth and metastasis via sphingolipid metabolite ceramide and PI4KA/AKT signaling in pancreatic cancer cells.
  2. Ceramide-1-phosphate and its transfer proteins in eukaryotes.
    Title: Ceramide-1-phosphate and its transfer proteins in eukaryotes.
  3. Ceramide-1-phosphate transfer protein (CPTP) regulation by phosphoinositides.
    Title: Ceramide-1-phosphate transfer protein (CPTP) regulation by phosphoinositides.
  4. These findings identify human CPTP as an endogenous regulator of early-stage autophagosome assembly and inflammasome-driven, pro-inflammatory cytokine generation and release.
    Title: CPTP: A sphingolipid transfer protein that regulates autophagy and inflammasome activation.
  5. 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.
  6. 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.
  7. 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 PubChem

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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
enables ceramide 1-phosphate binding IBA
Inferred from Biological aspect of Ancestor
more info
  
enables ceramide 1-phosphate binding IDA
Inferred from Direct Assay
more info
 PubMed 
enables ceramide 1-phosphate transfer activity IBA
Inferred from Biological aspect of Ancestor
more info
  
enables ceramide 1-phosphate transfer activity IDA
Inferred from Direct Assay
more info
 PubMed 
enables ceramide 1-phosphate transfer activity TAS
Traceable Author Statement
more info
  
enables phospholipid binding IDA
Inferred from Direct Assay
more info
 PubMed 
Process Evidence Code Pubs
involved_in ceramide 1-phosphate transport IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in ceramide transport IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in ceramide transport TAS
Traceable Author Statement
more info
  
NOT involved_in glycolipid transport IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in intermembrane lipid transfer IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in negative regulation of NLRP3 inflammasome complex assembly IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in negative regulation of autophagy IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in negative regulation of interleukin-1 beta production IMP
Inferred from Mutant Phenotype
more info
 PubMed 
Component Evidence Code Pubs
located_in Golgi apparatus IEA
Inferred from Electronic Annotation
more info
  
is_active_in cytosol IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in cytosol IDA
Inferred from Direct Assay
more info
  
located_in cytosol TAS
Traceable Author Statement
more info
  
located_in endosome membrane IEA
Inferred from Electronic Annotation
more info
  
located_in nuclear outer membrane IEA
Inferred from Electronic Annotation
more info
  
located_in 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
    Q4G0E6, Q5TA50, Q7L5A4
    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: GCF_000001405.40-RS_2023_10

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000001.11 Reference GRCh38.p14 Primary Assembly

    Range
    1324802..1328896
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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

    See identical proteins and their annotated locations for XP_011540502.1

    UniProtKB/Swiss-Prot
    Q4G0E6, Q5TA50, Q7L5A4
    UniProtKB/TrEMBL
    S4S694
    Conserved Domains (1) summary
    pfam08718
    Location:30 → 177
    GLTP; Glycolipid transfer protein (GLTP)

  2. XM_005244801.5 → XP_005244858.1  ceramide-1-phosphate transfer protein isoform X1

    See identical proteins and their annotated locations for XP_005244858.1

    UniProtKB/Swiss-Prot
    Q4G0E6, Q5TA50, Q7L5A4
    UniProtKB/TrEMBL
    S4S694
    Conserved Domains (1) summary
    pfam08718
    Location:30 → 177
    GLTP; Glycolipid transfer protein (GLTP)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060925.1 Alternate T2T-CHM13v2.0

    Range
    756387..760481
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054338883.1 → XP_054194858.1  ceramide-1-phosphate transfer protein isoform X1

    UniProtKB/Swiss-Prot
    Q4G0E6, Q5TA50, Q7L5A4
    UniProtKB/TrEMBL
    S4S694

  2. XM_054338882.1 → XP_054194857.1  ceramide-1-phosphate transfer protein isoform X1

    UniProtKB/Swiss-Prot
    Q4G0E6, Q5TA50, Q7L5A4
    UniProtKB/TrEMBL
    S4S694
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q5TA50.1 GenPept UniProtKB/Swiss-Prot:Q5TA50

Gene LinkOut

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