APOA4_HUMAN
Source:
PM23856902
Marked as 'Non-membrane protein'
Confidence:
low (only semi-automatic identification from reviews)
Search PubMed for
(RBC AND this entry)
Gene names:
APOA4
Protein names and data:
APOA4_HUMAN
, Apolipoprotein A-IV; Apo-AIV; ApoA-IV
, Apolipoprotein A4; Flags: Precursor
Lenght: 396 a.a.
Mass: 45399 Da
fasta formatted sequence
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.
Cellular location:
Secreted.
Tissue specificity:
Synthesized primarily in the intestine and secreted in plasma.
Genetic variants
Eight alleles have been characterized (APOA-IV*0 to APOA-IV*7). APOA-IV*1 is the major allele (90%), APOA-IV*2 is also common (8%), the others are rare alleles. The sequence shown represents allele APOA-IV*1.
13 - 13
V -> M (in allele APOA-IV*1D). VAR_000626
44 - 44
E -> K (in Budapest-2). VAR_000627
74 - 74
G -> S (in dbSNP:rs5102). VAR_014610
5102
77 - 77
Q -> H. VAR_025444
147 - 147
N -> S (in allele APOA-IV*1B; dbSNP:rs5104). VAR_000628
5104
161 - 161
A -> S (in Seattle-3). VAR_000629
178 - 178
S -> L (in Seattle-1; may contribute to the development of familial combined hyperlipidemia). VAR_000630
185 - 185
E -> K (in allele APOA-IV*3). VAR_000631
187 - 187
K -> E (in allele APOA-IV*0A; associated with H-380). VAR_000632
250 - 250
E -> K (in allele APOA-IV*3A). VAR_000633
264 - 264
R -> Q (in Seattle-2; may contribute to the development of familial combined hyperlipidemia; dbSNP:rs2238008). VAR_000634
2238008
279 - 279
R -> K (in dbSNP:rs1042372). VAR_025443
1042372
305 - 305
R -> C (in Budapest-1). VAR_000635
307 - 307
V -> L (in dbSNP:rs5108). VAR_014611
5108
367 - 367
T -> S (in allele APOA-IV*1A and allele Budapest-1; dbSNP:rs675). VAR_000636
675
380 - 380
Q -> H (in allele APOA-IV*2 and allele APOA-IV*0A; associated with E-187 in allele APOA-IV*0A; dbSNP:rs5110). VAR_000637
5110
381 - 381
Q -> QEQQQ (in allele APOA-IV*0 and allele APOA-IV*5; allele APOA-IV*5 is further defined by a silent nucleotide substitution). VAR_000638
Database cross-references
UniProt:
P06727
Ensembl:
ENST00000357780
MIM:
107690
neXtProt:
NX_P06727
Antibodypedia:
P06727
(may not find the protein thus also not any antibody)
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