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    APOL4 apolipoprotein L4 [ Homo sapiens (human) ]

    Gene ID: 80832, updated on 28-Oct-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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    See APOL4 in Genome Data Viewer
    Location:
    22q12.3
    Exon count:
    8
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 22 NC_000022.11 (36189128..36204833, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 22 NC_060946.1 (36649310..36664999, complement)
    RS_2024_09 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 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_2024_08

    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

    Gene LinkOut

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