APOA4
entrez
337
canonical
uniprot
P06727
canonical
ensembl
ENSG00000110244
resolver
ensp
ENSP00000350425
resolver
enst
ENST00000357780
resolver
genesymbol
APOA4
resolver
hgnc
HGNC:602
resolver
uniprot
A8MSL6
resolver
uniprot
Q14CW8
resolver
uniprot
Q6Q787
resolver
uniprot_entry
APOA4_HUMAN
resolver
uniprot_sec
A8MSL6
resolver
uniprot_sec
Q14CW8
resolver
uniprot_sec
Q6Q787
resolver
amino_acid_sequence
MFLKAVVLTLALVAVAGARAEVSADQVATVMWDYFSQLSNNAKEAVEHLQKSELTQQLNALFQDKLGEVNTYAGDLQKKLVPFATELHERLAKDSEKLKEEIGKELEELRARLLPHANEVSQKIGDNLRELQQRLEPYADQLRTQVSTQAEQLRRQLTPYAQRMERVLRENADSLQASLRPHADELKAKIDQNVEELKGRLTPYADEFKVKIDQTVEELRRSLAPYAQDTQEKLNHQLEGLTFQMKKNAEELKARISASAEELRQRLAPLAEDVRGNLRGNTEGLQKSLAELGGHLDQQVEEFRRRVEPYGENFNKALVQQMEQLRQKLGPHAGDVEGHLSFLEKDLRDKVNSFFSTFKEKESQDKTLSLPELEQQQEQQQEQQQEQVQMLAPLES
uniprot
proteins
disease_involvement
DISEASE: Tubulointerstitial kidney disease, autosomal dominant 6 (ADTKD6) [MIM:621106]: A form of autosomal dominant tubulointerstitial kidney disease, a genetically heterogeneous disorder characterized by slowly progressive loss of kidney function, bland urinary sediment, hyperuricemia, absent or mildly increased albuminuria, lack of severe hypertension during the early stages, and normal or small kidneys on ultrasound. Renal histology shows variable abnormalities including interstitial fibrosis with tubular atrophy, microcystic dilatation of the tubules, thickening of tubular basement membranes, medullary cysts, and secondary glomerulosclerotic or glomerulocystic changes with abnormal glomerular tufting. There is significant variability, as well as incomplete penetrance. ADTKD6 is characterized by the onset of slowly progressive renal failure in mid-to-late adulthood, and the presence of APOA4-positive amyloid deposits in the renal medulla without systemic amyloid deposition in other organs. {ECO:0000269|PubMed:38096951}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: May have a role in chylomicrons and VLDL secretion and catabolism. Required for efficient activation of lipoprotein lipase by ApoC-II; potent activator of LCAT. Apoa-IV is a major component of HDL and chylomicrons.
uniprot
proteins
mass_dalton
45372
uniprot
proteins
post_translational_modification
PTM: Phosphorylation sites are present in the extracellular medium.
uniprot
proteins
protein_family
Apolipoprotein A1/A4/E family
uniprot
proteins
pubmed
10391210
uniprot
proteins
pubmed
1349197
uniprot
proteins
pubmed
1487136
uniprot
proteins
pubmed
15108119
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
16554811
uniprot
proteins
pubmed
1677358
uniprot
proteins
pubmed
1737067
uniprot
proteins
pubmed
1973689
uniprot
proteins
pubmed
2065039
uniprot
proteins
pubmed
21269460
uniprot
proteins
pubmed
22579246
uniprot
proteins
pubmed
2351649
uniprot
proteins
pubmed
2930771
uniprot
proteins
pubmed
3036793
uniprot
proteins
pubmed
3080432
uniprot
proteins
pubmed
3095836
uniprot
proteins
pubmed
3755616
uniprot
proteins
pubmed
38096951
uniprot
proteins
pubmed
6706947
uniprot
proteins
pubmed
7728150
uniprot
proteins
pubmed
8956036
uniprot
proteins
sequence_length
396
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Secreted.
uniprot
proteins