APOF apolipoprotein F [Homo sapiens (human)] - Gene

Summary

Official Symbol: APOFprovided by HGNC
Official Full Name: apolipoprotein Fprovided by HGNC
Primary source: HGNC:HGNC:615
See related: Ensembl:ENSG00000175336 MIM:107760
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
Also known as: LTIP; Apo-F
Summary: The product of this gene is one of the minor apolipoproteins found in plasma. This protein forms complexes with lipoproteins and may be involved in transport and/or esterification of cholesterol. [provided by RefSeq, Jul 2008]
Expression: Restricted expression toward liver (RPKM 110.1) See more
Orthologs: mouse all
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Genomic context

Location:: 12q13.3

Exon count:: 2

Annotation release	Status	Assembly	Chr	Location
109.20210514	current	GRCh38.p13 (GCF_000001405.39)	12	NC_000012.12 (56360568..56362857, complement)
105.20201022	previous assembly	GRCh37.p13 (GCF_000001405.25)	12	NC_000012.11 (56754352..56756641, 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?

Direct interactions between C/EBPalpha and ETS-1 were important for high liver-specific expression of ApoF.
Title: Transcriptional regulation of the apolipoprotein F (ApoF) gene by ETS and C/EBPα in hepatoma cells.
this study has identified apoF as likely another target gene of FXR.
Title: Farnesoid X receptor up-regulates expression of lipid transfer inhibitor protein in liver cells and mice.
LTIP translocation is dependent on LDL lipid composition
Title: Conversion of lipid transfer inhibitor protein (apolipoprotein F) to its active form depends on LDL composition.
Observational study of gene-disease association and gene-gene interaction. (HuGE Navigator)
Title: Joint effects of common genetic variants from multiple genes and pathways on the risk of premature coronary artery disease.
lipoprotein composition may influence the status of lipid transfer inhibitor protein activity
Title: Control of cholesteryl ester transfer protein activity by sequestration of lipid transfer inhibitor protein in an inactive complex.
Observational study of gene-disease association. (HuGE Navigator)
Title: Common genetic variation in multiple metabolic pathways influences susceptibility to low HDL-cholesterol and coronary heart disease.
we have confirmed the negative association between plasma triglyceride levels and Apolipoprotein F previously suggested by a small data set, but now we demonstrate that this effect is seen only in males.
Title: Lipid transfer inhibitor protein (apolipoprotein F) concentration in normolipidemic and hyperlipidemic subjects.
LTIP tailors CETP-mediated remodeling of HDL3 and HDL2 particles in subclass-specific ways, strongly implicating it as a regulator of HDL metabolism
Title: Lipid transfer inhibitor protein defines the participation of high density lipoprotein subfractions in lipid transfer reactions mediated by cholesterol ester transfer protein (CETP).

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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

Associated conditions

Description	Tests
Nine loci for ocular axial length identified through genome-wide association studies, including shared loci with refractive error. GeneReviews: Not available

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 APOF gene: The APOF gene is conserved in chimpanzee, Rhesus monkey, dog, cow, mouse, and rat.
Orthologs from Annotation Pipeline: 322 organisms have orthologs with human gene APOF
Orthologs

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables cholesterol binding	TAS Traceable Author Statement more info	PubMed
enables lipid transporter activity	TAS Traceable Author Statement more info	PubMed
enables signaling receptor binding	TAS Traceable Author Statement more info	PubMed

Process	Evidence Code	Pubs
involved_in cholesterol metabolic process	IBA Inferred from Biological aspect of Ancestor more info	PubMed
involved_in lipid metabolic process	TAS Traceable Author Statement more info	PubMed
involved_in lipid transport	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
is_active_in extracellular space	IBA Inferred from Biological aspect of Ancestor more info	PubMed
located_in extracellular space	IDA Inferred from Direct Assay more info	PubMed
part_of high-density lipoprotein particle	IEA Inferred from Electronic Annotation more info
part_of low-density lipoprotein particle	IEA Inferred from Electronic Annotation more info

General protein information

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Preferred Names: apolipoprotein F

Names: lipid transfer inhibitor 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.