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

Gene ID: 81575, updated on 5-Mar-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
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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_2023_10 current GRCh38.p14 (GCF_000001405.40) 12 NC_000012.12 (12725917..12791466)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 12 NC_060936.1 (12599454..12665025)
105.20220307 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)

Genotypes

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 cell differentiation IEA
Inferred from Electronic Annotation
more info
  
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
  
Component Evidence Code Pubs
located_in extracellular region IEA
Inferred from Electronic Annotation
more info
  
located_in plasma membrane 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_2023_10

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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