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    APOF apolipoprotein F [ Homo sapiens (human) ]

    Gene ID: 319, updated on 23-Nov-2023

    Summary

    Official Symbol
    APOFprovided by HGNC
    Official Full Name
    apolipoprotein Fprovided by HGNC
    Primary source
    HGNC:HGNC:615
    See related
    Ensembl:ENSG00000175336 MIM:107760; AllianceGenome:HGNC:615
    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
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See APOF in Genome Data Viewer
    Location:
    12q13.3
    Exon count:
    2
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 12 NC_000012.12 (56360568..56362857, complement)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 12 NC_060936.1 (56328255..56330544, complement)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 12 NC_000012.11 (56754352..56756641, complement)

    Chromosome 12 - NC_000012.12Genomic Context describing neighboring genes Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr12:56731981-56733180 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_29688 Neighboring gene interleukin 23 subunit alpha Neighboring gene signal transducer and activator of transcription 2 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4558 Neighboring gene RNA, U7 small nuclear 40 pseudogene Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6493 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6494 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6495 Neighboring gene TBCC domain containing 1 pseudogene Neighboring gene apolipoprotein N, pseudogene

    Genomic regions, transcripts, and products

    Expression

    • 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

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    EBI GWAS Catalog

    Description
    Nine loci for ocular axial length identified through genome-wide association studies, including shared loci with refractive error.
    EBI GWAS Catalog

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Clone Names

    • MGC22520, DKFZp781G18150

    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
     
    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
     
    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

    Preferred Names
    apolipoprotein F
    Names
    lipid transfer inhibitor protein

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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)

    1. NM_001638.4NP_001629.1  apolipoprotein F preproprotein

      See identical proteins and their annotated locations for NP_001629.1

      Status: REVIEWED

      Source sequence(s)
      AC025574
      Consensus CDS
      CCDS44923.1
      UniProtKB/Swiss-Prot
      Q13790, Q8TC13
      UniProtKB/TrEMBL
      B2RC09
      Related
      ENSP00000381250.3, ENST00000398189.4
      Conserved Domains (1) summary
      pfam15148
      Location:63260
      Apolipo_F; Apolipoprotein F

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000012.12 Reference GRCh38.p14 Primary Assembly

      Range
      56360568..56362857 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060936.1 Alternate T2T-CHM13v2.0

      Range
      56328255..56330544 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)