RBCC Red Blood Cell Collection

ANGT_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: AGT , SERPINA8
Protein names and data: ANGT_HUMAN , Angiotensinogen , Serpin A8; Angiotensin-1; Angiotensin 1-10; Angiotensin I; Ang I; Angiotensin-2; Angiotensin 1-8; Angiotensin II; Ang II; Angiotensin-3; Angiotensin 2-8; Angiotensin III; Ang III; Des-Asp[1]-angiotensin II; Angiotensin-4; Angiotensin 3-8; Angiotensin IV; Ang IV; Angiotensin 1-9; Angiotensin 1-7; Angiotensin 1-5; Angiotensin 1-4; Flags: Precursor Lenght: 485 a.a.
Mass: 53154 Da
fasta formatted sequence
Function: Essential component of the renin-angiotensin system (RAS), a potent regulator of blood pressure, body fluid and electrolyte homeostasis. Angiotensin-2: acts directly on vascular smooth muscle as a potent vasoconstrictor, affects cardiac contractility and heart rate through its action on the sympathetic nervous system, and alters renal sodium and water absorption through its ability to stimulate the zona glomerulosa cells of the adrenal cortex to synthesize and secrete aldosterone. Angiotensin-3: stimulates aldosterone release. Angiotensin 1-7: is a ligand for the G-protein coupled receptor MAS1 (By similarity). Has vasodilator and antidiuretic effects (By similarity). Has an antithrombotic effect that involves MAS1-mediated release of nitric oxide from platelets (By similarity).
Disease: ( OMIM: 106150 145500 267430 ) Essential hypertension (EHT) [MIM:145500]: A condition in which blood pressure is consistently higher than normal with no identifiable cause. Note=Disease susceptibility is associated with variations affecting the gene represented in this entry. Renal tubular dysgenesis (RTD) [MIM:267430]: Autosomal recessive severe disorder of renal tubular development characterized by persistent fetal anuria and perinatal death, probably due to pulmonary hypoplasia from early-onset oligohydramnios (the Potter phenotype). Note=The disease is caused by mutations affecting the gene represented in this entry.
Cellular location: Secreted.
Tissue specificity: Expressed by the liver and secreted in plasma.

Genetic variants

43 - 43 L -> F (associated with susceptibility to pre-eclampsia; alters the reactions with renin and angiotensin-converting enzyme; dbSNP:rs41271499). VAR_022933 41271499
98 - 98 E -> K (in dbSNP:rs11568032). VAR_029166 11568032
114 - 114 G -> C (in dbSNP:rs2229389). VAR_051939 2229389
137 - 137 T -> M (in dbSNP:rs34829218). VAR_035431 34829218
207 - 207 T -> M (associated with hypertension; dbSNP:rs4762). VAR_007093 4762
242 - 242 T -> I (associated with susceptibility to hypertension). VAR_007094
244 - 244 L -> R (associated with susceptibility to hypertension; dbSNP:rs5041). VAR_007095 5041
268 - 268 M -> I (in dbSNP:rs11568053). VAR_029167 11568053
268 - 268 M -> T (associated with essential hypertension and pre-eclampsia; dbSNP:rs699). VAR_007096 699
281 - 281 Y -> C (associated with susceptibility to hypertension; alters the structure, glycosylation and secretion of angiotensinogen; dbSNP:rs56073403). VAR_007097 56073403
335 - 335 P -> S (in dbSNP:rs17856352). VAR_035432 17856352
375 - 375 R -> Q (in RTD). VAR_035433
392 - 392 L -> M (in dbSNP:rs1805090). VAR_014573 1805090

Database cross-references

UniProt: P01019
Ensembl: ENST00000366667
MIM: 106150
MIM: 145500
MIM: 267430
neXtProt: NX_P01019
Antibodypedia: P01019 (may not find the protein thus also not any antibody)
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