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] See more...

Aliases for APOLD1 Gene

Aliases for APOLD1 Gene

  • Apolipoprotein L Domain Containing 1 2 3 5
  • Apolipoprotein L Domain-Containing Protein 1 3 4
  • Vascular Early Response Gene Protein 3 4
  • VERGE 3 4
  • DKFZP434F0318 2
  • FLJ25138 2
  • APOLD1 5

External Ids for APOLD1 Gene

Previous GeneCards Identifiers for APOLD1 Gene

  • GC12P012830
  • GC12P012773
  • GC12P012775
  • GC12P012776
  • GC12P012777
  • GC12P012778
  • GC12P012831
  • GC12P012648
  • GC12P012879
  • GC12P012880
  • GC12P012885

Summaries for APOLD1 Gene

Entrez Gene Summary for APOLD1 Gene

  • 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]

GeneCards Summary for APOLD1 Gene

APOLD1 (Apolipoprotein L Domain Containing 1) is a Protein Coding gene. Diseases associated with APOLD1 include Rectosigmoid Cancer and Rectum Adenocarcinoma. Gene Ontology (GO) annotations related to this gene include lipid binding. An important paralog of this gene is APOL6.

UniProtKB/Swiss-Prot Summary for APOLD1 Gene

  • May be involved in angiogenesis. May play a role in activity-dependent changes of brain vasculature. May affect blood-brain permeability.

Additional gene information for APOLD1 Gene

No data available for CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for APOLD1 Gene

Genomics for APOLD1 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for APOLD1 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around APOLD1 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for APOLD1

Top Transcription factor binding sites by QIAGEN in the APOLD1 gene promoter:
  • FOXO1
  • FOXO1a
  • FOXO4
  • GATA-1
  • MyoD
  • Nkx2-5
  • Pax-5
  • Pbx1a
  • POU2F1

Genomic Locations for APOLD1 Gene

Genomic Locations for APOLD1 Gene
chr12:12,725,917-12,829,975
(GRCh38/hg38)
Size:
104,059 bases
Orientation:
Plus strand
chr12:12,878,851-12,982,909
(GRCh37/hg19)
Size:
104,059 bases
Orientation:
Plus strand

Genomic View for APOLD1 Gene

Genes around APOLD1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
APOLD1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for APOLD1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for APOLD1 Gene

Proteins for APOLD1 Gene

  • Protein details for APOLD1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q96LR9-APLD1_HUMAN
    Recommended name:
    Apolipoprotein L domain-containing protein 1
    Protein Accession:
    Q96LR9
    Secondary Accessions:
    • Q8IVR2
    • Q9H0I5

    Protein attributes for APOLD1 Gene

    Size:
    279 amino acids
    Molecular mass:
    30546 Da
    Quaternary structure:
    No Data Available
    SequenceCaution:
    • Sequence=AAH42478.1; Type=Erroneous initiation; Evidence={ECO:0000305};

    Alternative splice isoforms for APOLD1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for APOLD1 Gene

Post-translational modifications for APOLD1 Gene

No Post-translational modifications

Other Protein References for APOLD1 Gene

No data available for DME Specific Peptides for APOLD1 Gene

Domains & Families for APOLD1 Gene

Gene Families for APOLD1 Gene

Protein Domains for APOLD1 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for APOLD1 Gene

GenScript: Design optimal peptide antigens:
  • cDNA, FLJ95166 (A0AVN6_HUMAN)
  • Vascular early response gene protein (APLD1_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q96LR9

UniProtKB/Swiss-Prot:

APLD1_HUMAN :
  • Belongs to the apolipoprotein L family.
Family:
  • Belongs to the apolipoprotein L family.
genes like me logo Genes that share domains with APOLD1: view

Function for APOLD1 Gene

Molecular function for APOLD1 Gene

UniProtKB/Swiss-Prot Function:
May be involved in angiogenesis. May play a role in activity-dependent changes of brain vasculature. May affect blood-brain permeability.
UniProtKB/Swiss-Prot Induction:
In neonatal dermal microvascular endothelial cells, by hypoxia.

Phenotypes From GWAS Catalog for APOLD1 Gene

Gene Ontology (GO) - Molecular Function for APOLD1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0008289 lipid binding IBA 21873635
genes like me logo Genes that share ontologies with APOLD1: view
genes like me logo Genes that share phenotypes with APOLD1: view

Animal Model Products

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for APOLD1

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for APOLD1 Gene

Localization for APOLD1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for APOLD1 Gene

Cell membrane. Multi-pass membrane protein.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for APOLD1 gene
Compartment Confidence
nucleus 5
plasma membrane 4
cytosol 4
extracellular 3
mitochondrion 3
cytoskeleton 2
peroxisome 1
endoplasmic reticulum 1
endosome 1
lysosome 1
golgi apparatus 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytosol (4)
  • Nucleoplasm (4)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for APOLD1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005576 extracellular region IEA --
GO:0005654 nucleoplasm IDA --
GO:0005829 cytosol IDA --
GO:0005886 plasma membrane IEA --
GO:0016020 membrane IEA --
genes like me logo Genes that share ontologies with APOLD1: view

Pathways & Interactions for APOLD1 Gene

PathCards logo

SuperPathways for APOLD1 Gene

No Data Available

Interacting Proteins for APOLD1 Gene

Gene Ontology (GO) - Biological Process for APOLD1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001525 angiogenesis IBA 21873635
GO:0001666 response to hypoxia IEA --
GO:0006869 lipid transport IEA --
GO:0007275 multicellular organism development IEA --
GO:0030154 cell differentiation IEA --
genes like me logo Genes that share ontologies with APOLD1: view

No data available for Pathways by source and SIGNOR curated interactions for APOLD1 Gene

Drugs & Compounds for APOLD1 Gene

No Compound Related Data Available

Transcripts for APOLD1 Gene

mRNA/cDNA for APOLD1 Gene

2 REFSEQ mRNAs :
9 NCBI additional mRNA sequence :
5 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for APOLD1

Alternative Splicing Database (ASD) splice patterns (SP) for APOLD1 Gene

ExUns: 1a · 1b ^ 2 ^ 3 ^ 4a · 4b ^ 5a · 5b · 5c · 5d ^ 6a · 6b ^ 7a · 7b ^ 8 ^ 9 ^ 10 ^ 11 ^ 12a · 12b ^ 13a · 13b · 13c ^ 14a · 14b ^ 15a ·
SP1: - - - - - - - - -
SP2: - - - - - - - -
SP3: - -
SP4: - -
SP5: -
SP6:
SP7:
SP8: -
SP9: - -
SP10: -
SP11:

ExUns: 15b ^ 16a · 16b
SP1:
SP2:
SP3:
SP4:
SP5:
SP6:
SP7:
SP8:
SP9:
SP10:
SP11:

Relevant External Links for APOLD1 Gene

GeneLoc Exon Structure for
APOLD1

Expression for APOLD1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for APOLD1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for APOLD1 Gene

This gene is overexpressed in Adipose - Subcutaneous (x5.1) and Adipose - Visceral (Omentum) (x5.0).

Protein differential expression in normal tissues from HIPED for APOLD1 Gene

This gene is overexpressed in Cerebrospinal fluid (35.9), Breast (12.6), and Heart (7.5).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for APOLD1 Gene



Transcriptomic regulation report from SPP (The Signaling Pathways Project) for APOLD1

SOURCE GeneReport for Unigene cluster for APOLD1 Gene:

Hs.23388

mRNA Expression by UniProt/SwissProt for APOLD1 Gene:

Q96LR9-APLD1_HUMAN
Tissue specificity: Expressed in neonatal dermal microvascular endothelial cells.

Evidence on tissue expression from TISSUES for APOLD1 Gene

  • Nervous system(4.7)
  • Eye(4.3)
  • Intestine(3.8)
  • Muscle(3)
  • Lymph node(3)
  • Liver(2.8)
  • Heart(2.8)
  • Skin(2.8)
  • Blood(2.6)
  • Stomach(2.5)
  • Thyroid gland(2.5)
  • Spleen(2.3)
  • Gall bladder(2.3)
  • Pancreas(2.3)
  • Lung(2.2)
  • Kidney(2.2)
  • Adrenal gland(2)
genes like me logo Genes that share expression patterns with APOLD1: view

No data available for Protein tissue co-expression partners and Phenotype-based relationships between genes and organs from Gene ORGANizer for APOLD1 Gene

Orthologs for APOLD1 Gene

This gene was present in the common ancestor of chordates.

Orthologs for APOLD1 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia APOLD1 30 31
  • 99.4 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia APOLD1 30 31
  • 89.16 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia APOLD1 30 31
  • 88.35 (n)
OneToOne
Mouse
(Mus musculus)
Mammalia Apold1 30 17 31
  • 87.13 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Apold1 30
  • 85.77 (n)
Oppossum
(Monodelphis domestica)
Mammalia APOLD1 31
  • 74 (a)
OneToOne
Chicken
(Gallus gallus)
Aves APOLD1 30 31
  • 67.41 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia APOLD1 31
  • 41 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia apold1 30
  • 57.71 (n)
Zebrafish
(Danio rerio)
Actinopterygii apol1 31
  • 14 (a)
OneToMany
APOLD1 (3 of 4) 31
  • 12 (a)
OneToMany
APOLD1 (4 of 4) 31
  • 11 (a)
OneToMany
APOLD1 (2 of 4) 31
  • 9 (a)
OneToMany
Dr.26269 30
Species where no ortholog for APOLD1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Baker's yeast (Saccharomyces cerevisiae)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • Bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Fission Yeast (Schizosaccharomyces pombe)
  • Fruit Fly (Drosophila melanogaster)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • K. Lactis Yeast (Kluyveromyces lactis)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Platypus (Ornithorhynchus anatinus)
  • Rainbow Trout (Oncorhynchus mykiss)
  • Rice (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • Sea Squirt (Ciona savignyi)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Soybean (Glycine max)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Thale Cress (Arabidopsis thaliana)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Wheat (Triticum aestivum)
  • Worm (Caenorhabditis elegans)

Evolution for APOLD1 Gene

ENSEMBL:
Gene Tree for APOLD1 (if available)
TreeFam:
Gene Tree for APOLD1 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for APOLD1: view image

Paralogs for APOLD1 Gene

Paralogs for APOLD1 Gene

genes like me logo Genes that share paralogs with APOLD1: view

Variants for APOLD1 Gene

Additional dbSNP identifiers (rs#s) for APOLD1 Gene

Structural Variations from Database of Genomic Variants (DGV) for APOLD1 Gene

Variant ID Type Subtype PubMed ID
esv23001 CNV loss 19812545
esv2745567 CNV deletion 23290073
esv3628624 CNV loss 21293372
nsv1046355 CNV loss 25217958
nsv1070514 CNV deletion 25765185
nsv1119932 CNV deletion 24896259
nsv1127250 CNV deletion 24896259
nsv1144608 CNV deletion 24896259
nsv53843 CNV deletion 16902084
nsv951330 CNV deletion 24416366

Variation tolerance for APOLD1 Gene

Residual Variation Intolerance Score: 52.7% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 4.63; 65.59% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for APOLD1 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
APOLD1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for APOLD1 Gene

Disorders for APOLD1 Gene

MalaCards: The human disease database

(68) MalaCards diseases for APOLD1 Gene - From: DISEASES

Disorder Aliases PubMed IDs
rectosigmoid cancer
  • rectosigmoid junction cancer
rectum adenocarcinoma
  • rectal adenocarcinoma
enterocele
  • vaginal enterocele
prolapse of female genital organ
cloacogenic carcinoma
  • cloacogenic anal carcinoma
- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for APOLD1

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
genes like me logo Genes that share disorders with APOLD1: view

No data available for UniProtKB/Swiss-Prot and Genatlas for APOLD1 Gene

Publications for APOLD1 Gene

  1. Toward a catalog of human genes and proteins: sequencing and analysis of 500 novel complete protein coding human cDNAs. (PMID: 11230166) Wiemann S … Poustka A (Genome research 2001) 2 3 4
  2. Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study. (PMID: 20628086) Bailey SD … DREAM investigators (Diabetes care 2010) 3 41
  3. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4
  4. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4
  5. Verge: a novel vascular early response gene. (PMID: 15102925) Regard JB … Worley PF (The Journal of neuroscience : the official journal of the Society for Neuroscience 2004) 3 4

Products for APOLD1 Gene

Sources for APOLD1 Gene