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APOL3 apolipoprotein L3 [ Homo sapiens (human) ]

Gene ID: 80833, updated on 19-Sep-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
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Genomic context

See APOL3 in Genome Data Viewer
Location:
22q12.3
Exon count:
12
Annotation release Status Assembly Chr Location
109.20210514 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)

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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.

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 109.20210514

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.
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