CYB561
entrez
1534
canonical
uniprot
P49447
canonical
ensembl
ENSG00000008283
resolver
ensp
ENSP00000354028
resolver
ensp
ENSP00000376701
resolver
ensp
ENSP00000376702
resolver
ensp
ENSP00000464215
resolver
enst
ENST00000582997
resolver
genesymbol
CYB561
resolver
hgnc
HGNC:2571
resolver
uniprot
B2RE96
resolver
uniprot
B3KTA1
resolver
uniprot
B7Z775
resolver
uniprot
D3DU11
resolver
uniprot
J3QRH5
resolver
uniprot
Q5BJG9
resolver
uniprot
Q9BU05
resolver
uniprot
Q9BWR9
resolver
uniprot_entry
B3KTA1_HUMAN
resolver
uniprot_entry
CY561_HUMAN
resolver
uniprot_entry
J3QRH5_HUMAN
resolver
uniprot_sec
B2RE96
resolver
uniprot_sec
B7Z775
resolver
uniprot_sec
D3DU11
resolver
uniprot_sec
Q5BJG9
resolver
uniprot_sec
Q9BU05
resolver
uniprot_sec
Q9BWR9
resolver
amino_acid_sequence
MEGGAAAATPTALPYYVAFSQLLGLTLVAMTGAWLGLYRGGIAWESDLQFNAHPLCMVIGLIFLQGNALLVYRVFRNEAKRTTKVLHGLLHIFALVIALVGLVAVFDYHRKKGYADLYSLHSWCGILVFVLYFVQWLVGFSFFLFPGASFSLRSRYRPQHIFFGATIFLLSVGTALLGLKEALLFNLGGKYSAFEPEGVLANVLGLLLACFGGAVLYILTRADWKRPSQAEEQALSMDFKTLTEGDSPGSQ
uniprot
proteins
disease_involvement
DISEASE: Orthostatic hypotension 2 (ORTHYP2) [MIM:618182]: An autosomal recessive disorder characterized by severe orthostatic hypotension apparent from infancy or early childhood, low plasma and urinary levels of norepinephrine and epinephrine, and episodic hypoglycemia. Some patients may also have renal dysfunction and reduced life expectancy. Orthostatic hypotension, also known as postural hypotension, is a finding defined as a 20-mm Hg decrease in systolic pressure or a 10-mm Hg decrease in diastolic pressure occurring 3 minutes after a person has risen from supine to standing. Symptoms include dizziness, blurred vision, and sometimes syncope. {ECO:0000269|PubMed:29343526}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
ec_number
7.2.1.3
uniprot
proteins
function
FUNCTION: Transmembrane reductase that probably uses ascorbate as an electron donor to reduce Fe(3+) into Fe(2+) and could play a role in iron transport. It is also able to reduce extracellular monodehydro-L-ascorbate and could be involved in the regeneration and homeostasis within secretory vesicles of ascorbate which in turn provides reducing equivalents needed to support the activity of intravesicular enzymes. {ECO:0000250|UniProtKB:Q60720}.
uniprot
proteins
mass_dalton
27559
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
16625196
uniprot
proteins
pubmed
29343526
uniprot
proteins
pubmed
7559396
uniprot
proteins
pubmed
7980462
uniprot
proteins
sequence_length
251
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Cytoplasmic vesicle, secretory vesicle, chromaffin granule membrane {ECO:0000250|UniProtKB:P10897}; Multi-pass membrane protein {ECO:0000250|UniProtKB:Q53TN4}. Note=Secretory vesicle containing catecholamines and amidated peptides. {ECO:0000250|UniProtKB:P10897}.
uniprot
proteins
transmembrane_region
TRANSMEM 17..37; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 52..72; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 86..106; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 125..145; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 159..179; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 199..219; /note="Helical"; /evidence="ECO:0000255
uniprot
proteins