APOLD1
entrez
81575
canonical
uniprot
Q96LR9
canonical
ensembl
ENSG00000178878
resolver
ensp
ENSP00000324277
resolver
ensp
ENSP00000348998
resolver
genesymbol
APOLD1
resolver
genesymbol_syn
VERGE
resolver
hgnc
HGNC:25268
resolver
uniprot
A0AVN6
resolver
uniprot
Q8IVR2
resolver
uniprot
Q9H0I5
resolver
uniprot_entry
A0AVN6_HUMAN
resolver
uniprot_entry
APLD1_HUMAN
resolver
uniprot_sec
Q8IVR2
resolver
uniprot_sec
Q9H0I5
resolver
amino_acid_sequence
MFRAPCHRLRARGTRKARAGAWRGCTFPCLGKGMERPAAREPHGPDALRRFQGLLLDRRGRLHGQVLRLREVARRLERLRRRSLVANVAGSSLSATGALAAIVGLSLSPVTLGTSLLVSAVGLGVATAGGAVTITSDLSLIFCNSRELRRVQEIAATCQDQMREILSCLEFFCRWQGCGDRQLLQCGRNASIALYNSVYFIVFFGSRGFLIPRRAEGDTKVSQAVLKAKIQKLAESLESCTGALDELSEQLESRVQLCTKSSRGHDLKISADQRAGLFF
uniprot
proteins
disease_involvement
DISEASE: Bleeding disorder, vascular-type (BDVAS) [MIM:620715]: An autosomal dominant disorder characterized by increased bleeding tendency, without platelet dysfunction. Affected individuals experience spontaneous episodic bleeding, usually beginning in childhood. Clinical manifestations include epistaxis, oral cavity bleeding, menorrhagia, and excessive bleeding during surgery or childbirth. {ECO:0000269|PubMed:35638551}. Note=The disease may be caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
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 affect blood-brain barrier permeability. {ECO:0000269|PubMed:15102925, ECO:0000269|PubMed:35638551}.
uniprot
proteins
mass_dalton
30546
uniprot
proteins
protein_family
Apolipoprotein L family
uniprot
proteins
pubmed
11230166
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15102925
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
35638551
uniprot
proteins
sequence_length
279
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Cell membrane {ECO:0000305|PubMed:15102925}; Multi-pass membrane protein {ECO:0000305|PubMed:15102925}. Cell junction {ECO:0000269|PubMed:35638551}. Cytoplasmic vesicle, secretory vesicle {ECO:0000269|PubMed:35638551}. Note=Localized to Weibel-Palade bodies, secretory granules characteristic of vascular endothelial cells. {ECO:0000269|PubMed:35638551}.
uniprot
proteins
transmembrane_region
TRANSMEM 83..105; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 122..142; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 192..212; /note="Helical"; /evidence="ECO:0000255
uniprot
proteins