Gene Gene information from NCBI Gene database.
Entrez ID 81575
Gene name Apolipoprotein L domain containing 1
Gene symbol APOLD1
Synonyms (NCBI Gene)
BDVASVERGE
Chromosome 12
Chromosome location 12p13.1
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]
miRNA miRNA information provided by mirtarbase database.
323
miRTarBase ID miRNA Experiments Reference
MIRT016472 hsa-miR-193b-3p Microarray 20304954
MIRT024460 hsa-miR-215-5p Microarray 19074876
MIRT026548 hsa-miR-192-5p Microarray 19074876
MIRT030891 hsa-miR-21-5p Microarray 18591254
MIRT049116 hsa-miR-92a-3p CLASH 23622248
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
16
GO ID Ontology Definition Evidence Reference
GO:0001525 Process Angiogenesis IBA
GO:0005576 Component Extracellular region IEA
GO:0005886 Component Plasma membrane IEA
GO:0005911 Component Cell-cell junction IDA 35638551
GO:0006869 Process Lipid transport IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
612456 25268 ENSG00000178878
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q96LR9
Protein name Apolipoprotein L domain-containing protein 1 (Vascular early response gene protein)
Protein function Is a modulator of endothelial barrier permeability, required for proper organization of endothelial cell-cell junctions and cytoskeleton (PubMed:35638551). It also plays a role in the modulation of secretory autophagy (PubMed:35638551). May affe
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF05461 ApoL 55 174 Apolipoprotein L Family
Tissue specificity TISSUE SPECIFICITY: Expressed in neonatal dermal microvascular endothelial cells. {ECO:0000269|PubMed:15102925}.
Sequence
MFRAPCHRLRARGTRKARAGAWRGCTFPCLGKGMERPAAREPHGPDALRRFQGLLLDRRG
RLHGQVLRLREVARRLERLRRRSLVANVAGSSLSATGALAAIVGLSLSPVTLGTSLLVSA
VGLGVATAGGAVTITSDLSLIFCNSRELRRVQEIAATCQDQMREILSCLEFFCR
WQGCGD
RQLLQCGRNASIALYNSVYFIVFFGSRGFLIPRRAEGDTKVSQAVLKAKIQKLAESLESC
TGALDELSEQLESRVQLCTKSSRGHDLKISADQRAGLFF
Sequence length 279
Interactions View interactions
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
7
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
ATRIAL FIBRILLATION GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Bleeding disorder, vascular-type no classifications from unflagged records ClinVar
ClinVar, Disgenet, HPO
ClinVar, Disgenet, HPO
ClinVar, Disgenet, HPO
★★★☆☆
Reported in Unknown/Other Associations (≥2 sources)
BLOOD COAGULATION DISORDERS, INHERITED Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CARDIOVASCULAR DISEASE GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Adenocarcinoma Adenocarcinoma BEFREE 23115050
★☆☆☆☆
Found in Text Mining only
Blood Coagulation Disorders Inherited Blood coagulation disorder Pubtator 35638551 Associate
★☆☆☆☆
Found in Text Mining only
Carcinoma Renal Cell Renal cell carcinoma Pubtator 32883362 Associate
★☆☆☆☆
Found in Text Mining only
Cardiovascular Diseases Cardiovascular Diseases GWASCAT_DG 30595370
★☆☆☆☆
Found in Text Mining only
Carotid Artery Thrombosis Carotid Artery Thrombosis BEFREE 31797367
★☆☆☆☆
Found in Text Mining only
Hemorrhagic Disorders Hemorrhagic disease Pubtator 35638551 Associate
★☆☆☆☆
Found in Text Mining only
Hypoxia Hypoxia Pubtator 24114211 Associate
★☆☆☆☆
Found in Text Mining only
Osteoarthritis Osteoarthritis Pubtator 35733917 Associate
★☆☆☆☆
Found in Text Mining only
Prostate carcinoma Prostate cancer GWASCAT_DG 31562322
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Testicular Germ Cell Tumor Testicular Germ Cell Tumor BEFREE 20051947
★☆☆☆☆
Found in Text Mining only