• Gene id: 319

Gene Summary

• Gene Symbol: APOF   Gene   UCSC   Ensembl
• Aliases: Apo-F, LTIP
• Gene name: apolipoprotein F
• Alternate names: apolipoprotein F, lipid transfer inhibitor protein,
• Gene location: 12q13.3 (56362856: 56360567)     Exons: 2     NC_000012.12
• Gene summary(Entrez): 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]
• OMIM: 107760

SNPs

rs12348

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000009.12   g.25677217T>C
NC_000009.12   g.25677217T>G
NC_000009.11   g.25677215T>C
NC_000009.11   g.25677215T>G
NG_012031.1   g.6642A>G
NG_012031.1   g.6642A>C
NM_001004125.2   c.*466A>G
NM_001004125.2   c.*466A>C|SEQ=[T/C/G]|GENE=TUSC1

Protein Summary

• Protein general information: Q13790  
  • Name: Apolipoprotein F (Apo F) (Lipid transfer inhibitor protein) (LTIP)
  • Length: 326  
  • Mass: 35399
  • Tissue specificity: Expressed by the liver and secreted in plasma. {ECO
• Sequence:

  MTGLCGYSAPDMRGLRLIMIPVELLLCYLLLHPVDATSYGKQTNVLMHFPLSLESQTPSSDPLSCQFLHPKSLPG
  FSHMAPLPKFLVSLALRNALEEAGCQADVWALQLQLYRQGGVNATQVLIQHLRGLQKGRSTERNVSVEALASALQ
  LLAREQQSTGRVGRSLPTEDCENEKEQAVHNVVQLLPGVGTFYNLGTALYYATQNCLGKARERGRDGAIDLGYDL
  LMTMAGMSGGPMGLAISAALKPALRSGVQQLIQYYQDQKDANISQPETTKEGLRAISDVSDLEETTTLASFISEV
  VSSAPYWGWAIIKSYDLDPGAGSLEI

• Structural information:
  • Interpro: IPR026114  
  • STRING: ENSP00000381250
• Other Databases: GeneCards:  APOF  Malacards:  APOF

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0008203	cholesterol metabolic process	IBA	biological process
GO:0005615	extracellular space	IBA	cellular component
GO:0034362	low-density lipoprotein particle	IEA	cellular component
GO:0005576	extracellular region	IEA	cellular component
GO:0008203	cholesterol metabolic process	IEA	biological process
GO:0006629	lipid metabolic process	IEA	biological process
GO:0008202	steroid metabolic process	IEA	biological process
GO:0034364	high-density lipoprotein particle	IEA	cellular component
GO:0006869	lipid transport	IEA	biological process
GO:0005102	signaling receptor binding	TAS	molecular function
GO:0015485	cholesterol binding	TAS	molecular function
GO:0005319	lipid transporter activity	TAS	molecular function
GO:0006629	lipid metabolic process	TAS	biological process
GO:0006869	lipid transport	TAS	biological process
GO:0008203	cholesterol metabolic process	TAS	biological process
GO:0005576	extracellular region	IEA	cellular component
GO:0005615	extracellular space	IDA	cellular component

Diseases

Associated diseases	References
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)