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 categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
1
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Bleeding disorder, vascular-type no classifications from unflagged records rs2497484682 RCV003779385
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Blood Coagulation Disorders Inherited Associate 35638551
Carcinoma Renal Cell Associate 32883362
Hemorrhagic Disorders Associate 35638551
Hypoxia Associate 24114211
Neoplasms Germ Cell and Embryonal Associate 20051947
Osteoarthritis Associate 35733917
Vascular Diseases Associate 35638551