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    APOLD1 apolipoprotein L domain containing 1 [ Homo sapiens (human) ]

    Gene ID: 81575, updated on 27-Nov-2024

    Summary

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    Official Symbol
    APOLD1provided by HGNC
    Official Full Name
    apolipoprotein L domain containing 1provided by HGNC
    Primary source
    HGNC:HGNC:25268
    See related
    Ensembl:ENSG00000178878 MIM:612456; AllianceGenome:HGNC:25268
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    BDVAS; VERGE
    Summary
    APOLD1 is an endothelial cell early response protein that may play a role in regulation of endothelial cell signaling and vascular function (Regard et al., 2004 [PubMed 15102925]).[supplied by OMIM, Dec 2008]
    Expression
    Broad expression in fat (RPKM 54.0), thyroid (RPKM 52.1) and 18 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See APOLD1 in Genome Data Viewer
    Location:
    12p13.1
    Exon count:
    3
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 12 NC_000012.12 (12725917..12791466)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 12 NC_060936.1 (12599454..12665025)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 12 NC_000012.11 (12878851..12944400)

    Chromosome 12 - NC_000012.12Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6026 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6027 Neighboring gene ReSE screen-validated silencer GRCh37_chr12:12870680-12870868 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6028 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6029 Neighboring gene uncharacterized LOC105369663 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4262 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4263 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4264 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4265 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4266 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6030 Neighboring gene cyclin dependent kinase inhibitor 1B Neighboring gene microRNA 613 Neighboring gene syntaxin 8 pseudogene 1 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4267 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4268 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:12955832-12956332 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr12:12956863-12958062 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6031 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr12:12975829-12977028 Neighboring gene DEAD-box helicase 47 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr12:12987821-12989020 Neighboring gene ribosomal protein L37a pseudogene 9

    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. APOLD1 loss causes endothelial dysfunction involving cell junctions, cytoskeletal architecture, and Weibel-Palade bodies, while disrupting hemostasis. Stritt S, et al. Haematologica, 2023 Mar 1. PMID 35638551, Free PMC Article
    2. Verge: a novel vascular early response gene. Regard JB, et al. J Neurosci, 2004 Apr 21. PMID 15102925, Free PMC Article
    3. N(6)-Methyladenosine on mRNA facilitates a phase-separated nuclear body that suppresses myeloid leukemic differentiation. Cheng Y, et al. Cancer Cell, 2021 Jul 12. PMID 34048709, Free PMC Article
    4. Proteomic analysis of integrin-associated complexes identifies RCC2 as a dual regulator of Rac1 and Arf6. Humphries JD, et al. Sci Signal, 2009 Sep 8. PMID 19738201, Free PMC Article
    5. The LIFEdb database in 2006. Mehrle A, et al. Nucleic Acids Res, 2006 Jan 1. PMID 16381901, Free PMC Article

    See all (18) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. APOLD1 loss causes endothelial dysfunction involving cell junctions, cytoskeletal architecture, and Weibel-Palade bodies, while disrupting hemostasis.
      Title: APOLD1 loss causes endothelial dysfunction involving cell junctions, cytoskeletal architecture, and Weibel-Palade bodies, while disrupting hemostasis.
    2. Observational study of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator)
      Title: Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study.
    3. Observational study of gene-disease association. (HuGE Navigator)
      Title: Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip.
    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
    Bleeding disorder, vascular-type
    MedGen: CN376839 OMIM: 620715 GeneReviews: Not available
    		not available

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Potential readthrough

    Included gene: DDX47

    Homology

    Clone Names

    • FLJ25138, FLJ95166, DKFZp434F0318

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables lipid binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Process Evidence Code Pubs
    involved_in angiogenesis IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in autophagosome-dependent secretion IMP
    Inferred from Mutant Phenotype
    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
    		  
    involved_in regulation of endothelial cell differentiation IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in regulation of membrane permeability IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    Component Evidence Code Pubs
    located_in Weibel-Palade body IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in cell-cell junction IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in extracellular region IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in plasma membrane IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in transport vesicle IEA
    Inferred from Electronic Annotation
    more info
    		  

    General protein information

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    Preferred Names
    apolipoprotein L domain-containing protein 1
    Names
    vascular early response gene protein

    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_001130415.2 → NP_001123887.1  apolipoprotein L domain-containing protein 1 isoform 1

      See identical proteins and their annotated locations for NP_001123887.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).
      Source sequence(s)
      AC007215, AK024963, BC042478, DC413327
      Consensus CDS
      CCDS44833.1
      UniProtKB/Swiss-Prot
      Q8IVR2, Q96LR9, Q9H0I5
      Related
      ENSP00000324277.6, ENST00000326765.10
      Conserved Domains (1) summary
      pfam05461
      Location:85 → 138
      ApoL; Apolipoprotein L

    2. NM_030817.3 → NP_110444.3  apolipoprotein L domain-containing protein 1 isoform 2

      See identical proteins and their annotated locations for NP_110444.3

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) differs in the 5' UTR and 5' coding region, compared to variant 1. The resulting isoform (2) contains a distinct N-terminus and is shorter than isoform 1.
      Source sequence(s)
      AC007215, AK024963, BC126433
      Consensus CDS
      CCDS8654.1
      UniProtKB/TrEMBL
      A0AVN6
      Related
      ENSP00000348998.4, ENST00000356591.5
      Conserved Domains (1) summary
      pfam05461
      Location:54 → 107
      ApoL; Apolipoprotein L

    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_000012.12 Reference GRCh38.p14 Primary Assembly

      Range
      12725917..12791466
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060936.1 Alternate T2T-CHM13v2.0

      Range
      12599454..12665025
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q96LR9.2 GenPept UniProtKB/Swiss-Prot:Q96LR9

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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