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
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
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Genomic context

Location:: 1p36.33

Exon count:: 4

Annotation release	Status	Assembly	Chr	Location
109.20201120	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_000001.11 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: 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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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

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.

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)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Homology

Homologs of the CPTP gene: The CPTP gene is conserved in chimpanzee, Rhesus monkey, dog, cow, mouse, rat, chicken, zebrafish, fruit fly, mosquito, C.elegans, and frog.
Orthologs from Annotation Pipeline: 327 organisms have orthologs with human gene CPTP
Orthologs

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 transfer activity	IBA Inferred from Biological aspect of Ancestor more info	PubMed
ceramide 1-phosphate transfer activity	IDA Inferred from Direct Assay more info	PubMed
ceramide 1-phosphate transfer activity	TAS Traceable Author Statement more info
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 production	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
membrane	IBA Inferred from Biological aspect of Ancestor more info	PubMed
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)

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 Updated Annotation Release 109.20201120

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

Reference GRCh38.p13 Primary Assembly

Genomic

NC_000001.11 Reference GRCh38.p13 Primary Assembly

Range

1324757..1328896

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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)
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)
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)