GLTP glycolipid transfer protein [Homo sapiens (human)] - Gene

Summary

Official Symbol: GLTPprovided by HGNC
Official Full Name: glycolipid transfer proteinprovided by HGNC
Primary source: HGNC:HGNC:24867
See related: Ensembl:ENSG00000139433 MIM:608949; AllianceGenome:HGNC:24867
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Summary: The protein encoded by this gene is similar to bovine and porcine proteins which accelerate transfer of certain glycosphingolipids and glyceroglycolipids between membranes. It is thought to be a cytoplasmic protein. [provided by RefSeq, Jul 2008]
Expression: Broad expression in esophagus (RPKM 87.8), skin (RPKM 85.1) and 23 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 12q24.11

Exon count:: 6

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	12	NC_000012.12 (109850945..109880541, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	12	NC_060936.1 (109826404..109856233, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	12	NC_000012.11 (110288750..110318346, complement)

Chromosome 12 - NC_000012.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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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?

Role of Gltp in Maturation of Oligodendrocytes Under the Regulation of Nkx2.2.
Title: Role of Gltp in Maturation of Oligodendrocytes Under the Regulation of Nkx2.2.
Glycolipid transfer protein knockout disrupts vesicle trafficking to the plasma membrane.
Title: Glycolipid transfer protein knockout disrupts vesicle trafficking to the plasma membrane.
Emerging roles for human glycolipid transfer protein superfamily members in the regulation of autophagy, inflammation, and cell death.
Title: Emerging roles for human glycolipid transfer protein superfamily members in the regulation of autophagy, inflammation, and cell death.
HOXA5, HOXB6, and GLTP were direct target genes of MIR196B in CRC cells.
Title: MicroRNA 196B Regulates HOXA5, HOXB6 and GLTP Expression Levels in Colorectal Cancer Cells.
Four bulky, conserved hydrophobic residues involved in "sensor-like" interactions with lipid chains in protein hydrophobic pockets and FF motifs in GLTP and FAPP2.
Title: Structural analyses of 4-phosphate adaptor protein 2 yield mechanistic insights into sphingolipid recognition by the glycolipid transfer protein family.
GLTP was specifically labeled by either XLA or XLB GlcCer cross-linker during this process, together with a (the same) small subset of microsomal proteins. These cross-linkers will serve to probe physiologically relevant GlcCer-interacting cellular proteins
Title: Synthesis of a novel photoactivatable glucosylceramide cross-linker.
GLTP not only could be a significant player in cellular sphingolipid metabolism, but also could have a much broader role in the overall lipid metabolism.
Title: Alternation in the glycolipid transfer protein expression causes changes in the cellular lipidome.
GLTP mediates non-vesicular transport of ganglioside GM1 between native membranes
Title: GLTP mediated non-vesicular GM1 transport between native membranes.
Comprehensive analysis of the dimerization interfaces discloses -helices 6 and 2 and the protein C-terminus (C-end) as three specific structural elements that are simultaneously involved in dimer formation and ligand binding by GLTP.
Title: Structural insights into lipid-dependent reversible dimerization of human GLTP.
findings represent the first known phenotypic changes triggered by GLTP overexpression and regulated by direct interaction with a p120-catenin protein family member
Title: Human glycolipid transfer protein (GLTP) expression modulates cell shape.

Submit: New GeneRIF Correction See all GeneRIFs (25)

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

EBI GWAS Catalog

Description
A genome-wide association study of the metabolic syndrome in Indian Asian men. EBI GWAS Catalog EBI GWAS CatalogPubMed

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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Markers

RH78111 (e-PCR)
- UniSTS:76966

GLTP__6812 (e-PCR)
- UniSTS:468442

RH68195 (e-PCR)
- UniSTS:83958

RH27234 (e-PCR)
- UniSTS:85243

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 transfer activity	IBA Inferred from Biological aspect of Ancestor more info
enables glycolipid binding	IDA Inferred from Direct Assay more info	PubMed
enables glycolipid transfer activity	TAS Traceable Author Statement more info
enables identical protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables lipid binding	IDA Inferred from Direct Assay more info	PubMed
enables lipid transfer activity	IDA Inferred from Direct Assay more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in ceramide 1-phosphate transport	IEA Inferred from Electronic Annotation more info
involved_in ceramide transport	IBA Inferred from Biological aspect of Ancestor more info
involved_in ceramide transport	TAS Traceable Author Statement more info
involved_in glycolipid transport	IEA Inferred from Electronic Annotation more info
involved_in intermembrane lipid transfer	IBA Inferred from Biological aspect of Ancestor more info
involved_in intermembrane lipid transfer	IDA Inferred from Direct Assay more info	PubMed
involved_in response to immobilization stress	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
is_active_in cytosol	IBA Inferred from Biological aspect of Ancestor more info
located_in cytosol	IDA Inferred from Direct Assay more info	PubMed
located_in cytosol	TAS Traceable Author Statement more info

General protein information

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Preferred Names: glycolipid transfer protein

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.