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APOL4 apolipoprotein L4 [ Homo sapiens (human) ]

Gene ID: 80832, updated on 3-Apr-2024

Summary

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Official Symbol
APOL4provided by HGNC
Official Full Name
apolipoprotein L4provided by HGNC
Primary source
HGNC:HGNC:14867
See related
Ensembl:ENSG00000100336 MIM:607254; AllianceGenome:HGNC:14867
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
APOLIV; APOL-IV
Summary
This gene encodes a member of the apolipoprotein L family. The encoded protein may play a role in lipid exchange and transport throughout the body, as well as in reverse cholesterol transport from peripheral cells to the liver. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2020]
Expression
Broad expression in prostate (RPKM 5.7), lung (RPKM 5.4) and 24 other tissues See more
Orthologs
all
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Genomic context

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Location:
22q12.3
Exon count:
8
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 22 NC_000022.11 (36189128..36204833, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 22 NC_060946.1 (36649310..36664999, complement)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 22 NC_000022.10 (36585176..36600879, complement)

Chromosome 22 - NC_000022.11Genomic Context describing neighboring genes Neighboring gene MT-CYB pseudogene 34 Neighboring gene MT-ND1 pseudogene 10 Neighboring gene NANOG hESC enhancer GRCh37_chr22:36586149-36586650 Neighboring gene Sharpr-MPRA regulatory region 479 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:36597831-36598330 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18917 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr22:36623209-36623887 Neighboring gene apolipoprotein L2 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr22:36634500-36635014 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18918 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18919 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18920 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:36651041-36651540 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr22:36654247-36655038 Neighboring gene apolipoprotein L1

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • 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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Related articles in PubMed

  1. Association of SNPs and haplotypes in APOL1, 2 and 4 with schizophrenia. Takahashi S, et al. Schizophr Res, 2008 Sep. PMID 18632255, Free PMC Article
  2. Investigation of the apolipoprotein-L (APOL) gene family and schizophrenia using a novel DNA pooling strategy for public database SNPs. McGhee KA, et al. Schizophr Res, 2005 Jul 15. PMID 15949655
  3. The apolipoprotein L gene cluster has emerged recently in evolution and is expressed in human vascular tissue. Monajemi H, et al. Genomics, 2002 Apr. PMID 11944986
  4. Apolipoprotein L gene family: tissue-specific expression, splicing, promoter regions; discovery of a new gene. Duchateau PN, et al. J Lipid Res, 2001 Apr. PMID 11290834
  5. The human apolipoprotein L gene cluster: identification, classification, and sites of distribution. Page NM, et al. Genomics, 2001 May 15. PMID 11374903

See all (13) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. An association of APOL1, 2 and 4 with schizophrenia was establised.
    Title: Association of SNPs and haplotypes in APOL1, 2 and 4 with schizophrenia.
  2. Observational study of gene-disease association. (HuGE Navigator)
    Title: Association of SNPs and haplotypes in APOL1, 2 and 4 with schizophrenia.
  3. APOL4 has been found only in humans and African green monkeys
    Title: The apolipoprotein L gene cluster has emerged recently in evolution and is expressed in human vascular tissue.
Submit: New GeneRIF Correction

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
Schizophrenia
MedGen: C0036341 OMIM: 181500 GeneReviews: Not available
Compare labs

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables lipid binding IBA
Inferred from Biological aspect of Ancestor
more info
  
enables molecular_function ND
No biological Data available
more info
  
Process Evidence Code Pubs
involved_in lipid metabolic process NAS
Non-traceable Author Statement
more info
 PubMed 
involved_in lipid transport IEA
Inferred from Electronic Annotation
more info
  
involved_in lipoprotein metabolic process IEA
Inferred from Electronic Annotation
more info
  
Component Evidence Code Pubs
located_in extracellular space ISS
Inferred from Sequence or Structural Similarity
more info
 PubMed 
located_in intracellular membrane-bounded organelle IDA
Inferred from Direct Assay
more info
  

General protein information

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Preferred Names
apolipoprotein L4
Names
apolipoprotein L, 4
apolipoprotein L-IV

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.

Genomic

  1. NG_023437.1 RefSeqGene

    Range
    8025..20706
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001386885.1 → NP_001373814.1  apolipoprotein L4 isoform 1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (d) differs in the 5' UTR, compared to variant a. Both variants a and d encode the same isoform (1).
    Source sequence(s)
    KF459718, Z95114
    Consensus CDS
    CCDS74851.1
    UniProtKB/TrEMBL
    A8K351, B2R6U4
    Related
    ENSP00000507418.1, ENST00000683024.1
    Conserved Domains (1) summary
    pfam05461
    Location:43 → 345
    ApoL; Apolipoprotein L

  2. NM_030643.4 → NP_085146.2  apolipoprotein L4 isoform 1

    See identical proteins and their annotated locations for NP_085146.2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (a) represents the longest transcript and encodes isoform (1). Both variants a and d encode the same isoform.
    Source sequence(s)
    AW627682, AY014914, DA865632, Z95114
    Consensus CDS
    CCDS74851.1
    UniProtKB/TrEMBL
    A8K351, B2R6U4
    Related
    ENSP00000483497.1, ENST00000616056.4
    Conserved Domains (1) summary
    pfam05461
    Location:43 → 345
    ApoL; Apolipoprotein L

  3. NM_145660.2 → NP_663693.1  apolipoprotein L4 isoform 2 precursor

    See identical proteins and their annotated locations for NP_663693.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (b) lacks an internal exon in the 5' region, which results in upstream AUG start codon, compared to variant a. The resulting isoform (2) has a longer and distinct N-terminus, compared to isoform 1. Isoform 2 is thought to be a secreted protein.
    Source sequence(s)
    AW627682, AY014914, AY014915, DA865632, Z95114
    Consensus CDS
    CCDS74852.1
    UniProtKB/Swiss-Prot
    Q9BPW4, Q9BQ37, Q9BXQ8
    UniProtKB/TrEMBL
    A8K351, B2R6U4
    Related
    ENSP00000338260.3, ENST00000352371.5
    Conserved Domains (1) summary
    pfam05461
    Location:60 → 348
    ApoL; Apolipoprotein L

  4. NM_145661.2 → NP_663694.1  apolipoprotein L4 isoform 3

    Status: REVIEWED

    Description
    Transcript Variant: This variant (c) has multiple differences in the coding region compared to variant a, one of which results in a frameshift. The resulting isoform is shorter than isoform 1 and similar to it only at the N-terminus.
    Source sequence(s)
    Z95114
    Consensus CDS
    CCDS93158.1
    UniProtKB/TrEMBL
    Q9BRG6
    Related
    ENSP00000380445.2, ENST00000397275.6

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_000022.11 Reference GRCh38.p14 Primary Assembly

    Range
    36189128..36204833 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_047441505.1 → XP_047297461.1  apolipoprotein L4 isoform X2

    Related
    ENSP00000333229.2, ENST00000332987.5

  2. XM_047441504.1 → XP_047297460.1  apolipoprotein L4 isoform X1

    UniProtKB/Swiss-Prot
    Q9BPW4, Q9BQ37, Q9BXQ8

  3. XM_024452274.2 → XP_024308042.1  apolipoprotein L4 isoform X3

    Conserved Domains (1) summary
    pfam05461
    Location:1 → 252
    ApoL; Apolipoprotein L

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060946.1 Alternate T2T-CHM13v2.0

    Range
    36649310..36664999 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054325947.1 → XP_054181922.1  apolipoprotein L4 isoform X2

    UniProtKB/TrEMBL
    Q6ICI8

  2. XM_054325946.1 → XP_054181921.1  apolipoprotein L4 isoform X1

  3. XM_054325948.1 → XP_054181923.1  apolipoprotein L4 isoform X3

Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q9BPW4.3 GenPept UniProtKB/Swiss-Prot:Q9BPW4

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