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

    Gene ID: 80772, updated on 28-Oct-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, Oct 2024]
    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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    See CPTP in Genome Data Viewer
    Location:
    1p36.33
    Exon count:
    3
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (1324802..1328896)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (756387..760481)
    RS_2024_09 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 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 transfer protein promotes sphingolipid reorientation needed for binding during membrane interaction. Gao YG, et al. J Lipid Res, 2022 Jan. PMID 34808193, Free PMC Article
    3. Ceramide-1-phosphate and its transfer proteins in eukaryotes. Zhang Y, et al. Chem Phys Lipids, 2021 Oct. PMID 34499882
    4. Ceramide-1-phosphate transfer protein (CPTP) regulation by phosphoinositides. Gao YG, et al. J Biol Chem, 2021 Jan-Jun. PMID 33781749, Free PMC Article
    5. CPTP: A sphingolipid transfer protein that regulates autophagy and inflammasome activation. Mishra SK, et al. Autophagy, 2018. PMID 29164996, Free PMC Article

    See all (13) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Ceramide-1-phosphate transfer protein promotes sphingolipid reorientation needed for binding during membrane interaction.
      Title: Ceramide-1-phosphate transfer protein promotes sphingolipid reorientation needed for binding during membrane interaction.
    2. 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.
    3. Ceramide-1-phosphate and its transfer proteins in eukaryotes.
      Title: Ceramide-1-phosphate and its transfer proteins in eukaryotes.
    4. Ceramide-1-phosphate transfer protein (CPTP) regulation by phosphoinositides.
      Title: Ceramide-1-phosphate transfer protein (CPTP) regulation by phosphoinositides.
    5. 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.
    6. 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.
    7. 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.
    8. 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_2024_08

    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

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

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