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

Summary

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 ceramide 1-phosphate transport; negative regulation of NLRP3 inflammasome complex assembly; and negative regulation of metabolic process. Located in cytosol. [provided by Alliance of Genome Resources, Dec 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

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_000001.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: Tissue-specific circular RNA induction during human fetal development
Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
BioProject: PRJNA270632
Publication: PMID 26076956
Analysis date: Mon Apr 2 22:54:59 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

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.
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.
Ceramide-1-phosphate and its transfer proteins in eukaryotes.
Title: Ceramide-1-phosphate and its transfer proteins in eukaryotes.
Ceramide-1-phosphate transfer protein (CPTP) regulation by phosphoinositides.
Title: Ceramide-1-phosphate transfer protein (CPTP) regulation by phosphoinositides.
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.
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.
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.
Observational study of gene-disease association. (HuGE Navigator)
Title: Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip.

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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)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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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)

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

NC_000001.11 Reference GRCh38.p14 Primary Assembly

Range

1324802..1328896

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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)
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

NC_060925.1 Alternate T2T-CHM13v2.0

Range

756387..760481

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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

UniProtKB/Swiss-Prot

Q4G0E6, Q5TA50, Q7L5A4

UniProtKB/TrEMBL

S4S694
XM_054338882.1 → XP_054194857.1 ceramide-1-phosphate transfer protein isoform X1

UniProtKB/Swiss-Prot

Q4G0E6, Q5TA50, Q7L5A4

UniProtKB/TrEMBL

S4S694