Format

Send to:

Choose Destination
    • Showing Current items.

    APOL3 apolipoprotein L3 [ Homo sapiens (human) ]

    Gene ID: 80833, updated on 23-Nov-2021

    Summary

    Official Symbol
    APOL3provided by HGNC
    Official Full Name
    apolipoprotein L3provided by HGNC
    Primary source
    HGNC:HGNC:14868
    See related
    Ensembl:ENSG00000128284 MIM:607253
    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
    CG121; CG12_1; APOLIII; apoL-III
    Summary
    This gene is a member of the apolipoprotein L gene family, and it is present in a cluster with other family members on chromosome 22. The encoded protein is found in the cytoplasm, where it may affect the movement of lipids, including cholesterol, and/or allow the binding of lipids to organelles. In addition, expression of this gene is up-regulated by tumor necrosis factor-alpha in endothelial cells lining the normal and atherosclerotic iliac artery and aorta. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2015]
    Expression
    Broad expression in spleen (RPKM 16.1), fat (RPKM 13.1) and 24 other tissues See more
    Orthologs
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See APOL3 in Genome Data Viewer
    Location:
    22q12.3
    Exon count:
    12
    Annotation release Status Assembly Chr Location
    109.20211119 current GRCh38.p13 (GCF_000001405.39) 22 NC_000022.11 (36140323..36166177, complement)
    105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 22 NC_000022.10 (36536371..36562225, complement)

    Chromosome 22 - NC_000022.11Genomic Context describing neighboring genes Neighboring gene RNA binding fox-1 homolog 2 Neighboring gene NADH:ubiquinone oxidoreductase subunit A9 pseudogene 1 Neighboring gene uncharacterized LOC102723507 Neighboring gene MT-CO1 pseudogene 20 Neighboring gene MT-CO2 pseudogene 20

    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

    Associated conditions

    Description Tests
    Genome-wide association study of chemotherapeutic agent-induced severe neutropenia/leucopenia for patients in Biobank Japan.
    GeneReviews: Not available

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables lipid binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    enables lipid transporter activity TAS
    Traceable Author Statement
    more info
    PubMed 
    Component Evidence Code Pubs
    located_in cytoplasm IEA
    Inferred from Electronic Annotation
    more info
     
    located_in extracellular region IEA
    Inferred from Electronic Annotation
    more info
     
    located_in membrane HDA PubMed 

    General protein information

    Preferred Names
    apolipoprotein L3
    Names
    TNF-inducible protein CG12-1
    apolipoprotein L, 3
    apolipoprotein L-III splice variant alpha
    apolipoprotein L-III splice variant beta

    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_001393587.1NP_001380516.1  apolipoprotein L3 isoform 4

      Status: REVIEWED

      Source sequence(s)
      Z95114
      Conserved Domains (1) summary
      pfam05461
      Location:20326
      ApoL; Apolipoprotein L
    2. NM_001393588.1NP_001380517.1  apolipoprotein L3 isoform 4

      Status: REVIEWED

      Source sequence(s)
      Z95114
      Conserved Domains (1) summary
      pfam05461
      Location:20326
      ApoL; Apolipoprotein L
    3. NM_001393589.1NP_001380518.1  apolipoprotein L3 isoform 4

      Status: REVIEWED

      Source sequence(s)
      Z95114
      Conserved Domains (1) summary
      pfam05461
      Location:20326
      ApoL; Apolipoprotein L
    4. NM_001393590.1NP_001380519.1  apolipoprotein L3 isoform 4

      Status: REVIEWED

      Source sequence(s)
      Z95114
      Conserved Domains (1) summary
      pfam05461
      Location:20326
      ApoL; Apolipoprotein L
    5. NM_001393591.1NP_001380520.1  apolipoprotein L3 isoform 4

      Status: REVIEWED

      Source sequence(s)
      Z95114
      Conserved Domains (1) summary
      pfam05461
      Location:20326
      ApoL; Apolipoprotein L
    6. NM_001393592.1NP_001380521.1  apolipoprotein L3 isoform 4

      Status: REVIEWED

      Source sequence(s)
      Z95114
      Conserved Domains (1) summary
      pfam05461
      Location:20326
      ApoL; Apolipoprotein L
    7. NM_001393593.1NP_001380522.1  apolipoprotein L3 isoform 2

      Status: REVIEWED

      Source sequence(s)
      Z95114
      Conserved Domains (1) summary
      pfam05461
      Location:19325
      ApoL; Apolipoprotein L
    8. NM_001393595.1NP_001380524.1  apolipoprotein L3 isoform 2

      Status: REVIEWED

      Source sequence(s)
      Z95114
      Conserved Domains (1) summary
      pfam05461
      Location:19325
      ApoL; Apolipoprotein L
    9. NM_001393596.1NP_001380525.1  apolipoprotein L3 isoform 2

      Status: REVIEWED

      Source sequence(s)
      Z95114
      Conserved Domains (1) summary
      pfam05461
      Location:19325
      ApoL; Apolipoprotein L
    10. NM_001393597.1NP_001380526.1  apolipoprotein L3 isoform 2

      Status: REVIEWED

      Source sequence(s)
      Z95114
      Conserved Domains (1) summary
      pfam05461
      Location:19325
      ApoL; Apolipoprotein L
    11. NM_001393598.1NP_001380527.1  apolipoprotein L3 isoform 2

      Status: REVIEWED

      Source sequence(s)
      Z95114
      Conserved Domains (1) summary
      pfam05461
      Location:19325
      ApoL; Apolipoprotein L
    12. NM_001393599.1NP_001380528.1  apolipoprotein L3 isoform 2

      Status: REVIEWED

      Source sequence(s)
      Z95114
      Conserved Domains (1) summary
      pfam05461
      Location:19325
      ApoL; Apolipoprotein L
    13. NM_001393600.1NP_001380529.1  apolipoprotein L3 isoform 2

      Status: REVIEWED

      Source sequence(s)
      Z95114
      Conserved Domains (1) summary
      pfam05461
      Location:19325
      ApoL; Apolipoprotein L
    14. NM_001393601.1NP_001380530.1  apolipoprotein L3 isoform 2

      Status: REVIEWED

      Source sequence(s)
      Z95114
      Conserved Domains (1) summary
      pfam05461
      Location:19325
      ApoL; Apolipoprotein L
    15. NM_001393602.1NP_001380531.1  apolipoprotein L3 isoform 2

      Status: REVIEWED

      Source sequence(s)
      Z95114
      Conserved Domains (1) summary
      pfam05461
      Location:19325
      ApoL; Apolipoprotein L
    16. NM_001393603.1NP_001380532.1  apolipoprotein L3 isoform 2

      Status: REVIEWED

      Source sequence(s)
      Z95114
      Conserved Domains (1) summary
      pfam05461
      Location:19325
      ApoL; Apolipoprotein L
    17. NM_001393604.1NP_001380533.1  apolipoprotein L3 isoform 2

      Status: REVIEWED

      Source sequence(s)
      Z95114
      Conserved Domains (1) summary
      pfam05461
      Location:19325
      ApoL; Apolipoprotein L
    18. NM_001393605.1NP_001380534.1  apolipoprotein L3 isoform 5

      Status: REVIEWED

      Source sequence(s)
      Z95114
    19. NM_001393606.1NP_001380535.1  apolipoprotein L3 isoform 3

      Status: REVIEWED

      Source sequence(s)
      Z95114
      Related
      ENSP00000380461.3, ENST00000397293.6
      Conserved Domains (1) summary
      pfam05461
      Location:1196
      ApoL; Apolipoprotein L
    20. NM_001393607.1NP_001380536.1  apolipoprotein L3 isoform 3

      Status: REVIEWED

      Source sequence(s)
      Z95114
      Conserved Domains (1) summary
      pfam05461
      Location:1196
      ApoL; Apolipoprotein L
    21. NM_001393608.1NP_001380537.1  apolipoprotein L3 isoform 3

      Status: REVIEWED

      Source sequence(s)
      Z95114
      Conserved Domains (1) summary
      pfam05461
      Location:1196
      ApoL; Apolipoprotein L
    22. NM_001393609.1NP_001380538.1  apolipoprotein L3 isoform 3

      Status: REVIEWED

      Source sequence(s)
      Z95114
      Conserved Domains (1) summary
      pfam05461
      Location:1196
      ApoL; Apolipoprotein L
    23. NM_014349.3NP_055164.1  apolipoprotein L3 isoform 2

      See identical proteins and their annotated locations for NP_055164.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (alpha/a) differs in the coding region but maintains the reading frame compared to variant alpha/d. This variant encodes isoform 2, which is shorter and which contains a unique N-terminus compared to isoform 1.
      Source sequence(s)
      Z95114
      Consensus CDS
      CCDS13923.1
      UniProtKB/Swiss-Prot
      O95236
      UniProtKB/TrEMBL
      A0A024R1G6
      Conserved Domains (1) summary
      pfam05461
      Location:19325
      ApoL; Apolipoprotein L
    24. NM_030644.2NP_085147.1  apolipoprotein L3 isoform 2

      See identical proteins and their annotated locations for NP_085147.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (alpha/b) has multiple differences in the coding region but maintains the reading frame compared to variant alpha/d. This variant encodes isoform 2, which is shorter and which contains a unique N-terminus compared to isoform 1.
      Source sequence(s)
      Z95114
      Consensus CDS
      CCDS13923.1
      UniProtKB/Swiss-Prot
      O95236
      UniProtKB/TrEMBL
      A0A024R1G6
      Conserved Domains (1) summary
      pfam05461
      Location:19325
      ApoL; Apolipoprotein L
    25. NM_145639.2NP_663614.1  apolipoprotein L3 isoform 2

      See identical proteins and their annotated locations for NP_663614.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (alpha/c) differs in the coding region but maintains the reading frame compared to variant alpha/d. This variant encodes isoform 2, which is shorter and which contains a unique N-terminus compared to isoform 1.
      Source sequence(s)
      Z95114
      Consensus CDS
      CCDS13923.1
      UniProtKB/Swiss-Prot
      O95236
      UniProtKB/TrEMBL
      A0A024R1G6
      Related
      ENSP00000415779.3, ENST00000424878.3
      Conserved Domains (1) summary
      pfam05461
      Location:19325
      ApoL; Apolipoprotein L
    26. NM_145640.2NP_663615.1  apolipoprotein L3 isoform 1

      See identical proteins and their annotated locations for NP_663615.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (alpha/d) encodes the longer isoform (1).
      Source sequence(s)
      AK025349, AY014905, BC038352, BF797347, DA878288
      Consensus CDS
      CCDS13922.1
      UniProtKB/Swiss-Prot
      O95236
      Related
      ENSP00000344577.2, ENST00000349314.6
      Conserved Domains (1) summary
      pfam05461
      Location:104396
      ApoL; Apolipoprotein L
    27. NM_145641.3NP_663616.1  apolipoprotein L3 isoform 3

      See identical proteins and their annotated locations for NP_663616.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (beta/a) differs in the 5' UTR, lacks a portion of the 5' coding region, and uses a downstream translational start codon, compared to variant alpha/d. The encoded isoform (3) is shorter at the N-terminus, compared to isoform 1. Both variants beta/a and beta/b encode the same isoform.
      Source sequence(s)
      AK025349, AY014906, BF797347
      Consensus CDS
      CCDS13924.1
      UniProtKB/Swiss-Prot
      O95236
      Related
      ENSP00000380456.2, ENST00000397287.6
      Conserved Domains (1) summary
      pfam05461
      Location:1196
      ApoL; Apolipoprotein L
    28. NM_145642.3NP_663617.1  apolipoprotein L3 isoform 3

      See identical proteins and their annotated locations for NP_663617.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (beta/b) differs in the 5' UTR, lacks a portion of the 5' coding region, and uses a downstream translational start codon, compared to variant alpha/d. The encoded isoform (3) is shorter at the N-terminus, compared to isoform 1. Both variants beta/a and beta/b encode the same isoform.
      Source sequence(s)
      AK025349, AY014907, BF797347
      Consensus CDS
      CCDS13924.1
      UniProtKB/Swiss-Prot
      O95236
      Related
      ENSP00000355164.2, ENST00000361710.6
      Conserved Domains (1) summary
      pfam05461
      Location:1196
      ApoL; Apolipoprotein L

    RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20211119

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

    Reference GRCh38.p13 Primary Assembly

    Genomic

    1. NC_000022.11 Reference GRCh38.p13 Primary Assembly

      Range
      36140323..36166177 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_017028948.1XP_016884437.1  apolipoprotein L3 isoform X1

      Conserved Domains (1) summary
      pfam05461
      Location:20326
      ApoL; Apolipoprotein L
    2. XM_017028949.1XP_016884438.1  apolipoprotein L3 isoform X1

      Conserved Domains (1) summary
      pfam05461
      Location:20326
      ApoL; Apolipoprotein L
    3. XM_024452275.1XP_024308043.1  apolipoprotein L3 isoform X2

      Conserved Domains (1) summary
      pfam05461
      Location:19325
      ApoL; Apolipoprotein L

    Suppressed Reference Sequence(s)

    The following Reference Sequences have been suppressed. Explain

    1. NR_027833.1: Suppressed sequence

      Description
      NR_027833.1: This RefSeq was permanently suppressed because it is now thought that this transcript variant encodes a protein.
    2. NR_027834.1: Suppressed sequence

      Description
      NR_027834.1: This RefSeq was permanently suppressed because it is now thought that this transcript variant encodes a protein.
    3. NR_027835.1: Suppressed sequence

      Description
      NR_027835.1: This RefSeq was permanently suppressed because it is now thought that this transcript variant encodes a protein.
    Support Center