CYBC1
entrez
79415
canonical
uniprot
Q9BQA9
canonical
ensembl
ENSG00000178927
resolver
ensp
ENSP00000307765
resolver
ensp
ENSP00000388909
resolver
ensp
ENSP00000401626
resolver
ensp
ENSP00000462529
resolver
ensp
ENSP00000463215
resolver
ensp
ENSP00000463228
resolver
ensp
ENSP00000463846
resolver
ensp
ENSP00000464080
resolver
ensp
ENSP00000522127
resolver
ensp
ENSP00000598878
resolver
genesymbol
CYBC1
resolver
genesymbol_syn
C17orf62
resolver
genesymbol_syn
EROS
resolver
hgnc
HGNC:28672
resolver
uniprot
E1B6X3
resolver
uniprot
Q96NR1
resolver
uniprot_entry
CYBC1_HUMAN
resolver
uniprot_sec
E1B6X3
resolver
uniprot_sec
Q96NR1
resolver
amino_acid_sequence
MYLQVETRTSSRLHLKRAPGIRSWSLLVGILSIGLAAAYYSGDSLGWKLFYVTGCLFVAVQNLEDWEEAIFDKSTGKVVLKTFSLYKKLLTLFRAGHDQVVVLLHDVRDVSVEEEKVRYFGKGYMVVLRLATGFSHPLTQSAVMGHRSDVEAIAKLITSFLELHCLESPTELSQSSDSEAGDPASQS
uniprot
proteins
disease_involvement
DISEASE: Granulomatous disease, chronic, autosomal recessive, 5 (CGD5) [MIM:618935]: A form of chronic granulomatous disease, a primary immunodeficiency characterized by severe recurrent bacterial and fungal infections, along with manifestations of chronic granulomatous inflammation. It results from an impaired ability of phagocytes to mount a burst of reactive oxygen species in response to pathogens. CGD5 is an autosomal recessive form characterized by onset of recurrent infections and severe colitis in the first decade of life. Clinical manifestations include increased susceptibility to catalase-positive organisms, features of inflammatory bowel disease, lymphopenia, lymphadenitis, and autoinflammatory symptoms in some patients. {ECO:0000269|PubMed:28600779, ECO:0000269|PubMed:30361506}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: Functions as a chaperone necessary for a stable expression of the CYBA and CYBB subunits of the cytochrome b-245 heterodimer (PubMed:30361506). Controls the phagocyte respiratory burst and is essential for innate immunity (By similarity). {ECO:0000250|UniProtKB:Q3TYS2, ECO:0000269|PubMed:30361506}.
uniprot
proteins
mass_dalton
20774
uniprot
proteins
protein_family
CYBC1 family
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
16625196
uniprot
proteins
pubmed
21269460
uniprot
proteins
pubmed
22814378
uniprot
proteins
pubmed
24275569
uniprot
proteins
pubmed
28351984
uniprot
proteins
pubmed
28600779
uniprot
proteins
pubmed
30361506
uniprot
proteins
sequence_length
187
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Endoplasmic reticulum membrane {ECO:0000269|PubMed:28351984}; Single-pass membrane protein {ECO:0000305}.
uniprot
proteins
transmembrane_region
TRANSMEM 20..42; /note="Helical"; /evidence="ECO:0000255
uniprot
proteins