Gene Gene information from NCBI Gene database.
Entrez ID 1534
Gene name Cytochrome b561
Gene symbol CYB561
Synonyms (NCBI Gene)
CGCytbCYB561A1FRRS2ORTHYP2
Chromosome 17
Chromosome location 17q23.3
SNPs SNP information provided by dbSNP.
2
SNP ID Visualize variation Clinical significance Consequence
rs772361572 C>A,G,T Pathogenic Missense variant, coding sequence variant
rs1437737028 C>T Pathogenic Stop gained, coding sequence variant
miRNA miRNA information provided by mirtarbase database.
898
miRTarBase ID miRNA Experiments Reference
MIRT017264 hsa-miR-335-5p Microarray 18185580
MIRT040786 hsa-miR-18a-3p CLASH 23622248
MIRT689451 hsa-miR-3120-3p HITS-CLIP 23313552
MIRT689450 hsa-miR-3125 HITS-CLIP 23313552
MIRT689449 hsa-miR-3916 HITS-CLIP 23313552
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
16
GO ID Ontology Definition Evidence Reference
GO:0005515 Function Protein binding IPI 25416956, 32296183
GO:0005765 Component Lysosomal membrane IBA
GO:0006879 Process Intracellular iron ion homeostasis IEA
GO:0016020 Component Membrane IEA
GO:0016020 Component Membrane NAS 7559396, 7980462
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
600019 2571 ENSG00000008283
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
P49447
Protein name Transmembrane ascorbate-dependent reductase CYB561 (EC 7.2.1.-) (Cytochrome b-561) (Cytochrome b561)
Protein function Transmembrane reductase that uses ascorbate as an electron donor in the cytoplasm and transfers electrons across membranes to reduce monodehydro-L-ascorbate radical in the lumen of secretory vesicles. It is therefore involved the regeneration an
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF03188 Cytochrom_B561 52 186 Eukaryotic cytochrome b561 Family
Tissue specificity TISSUE SPECIFICITY: Expressed in many tissues, in particular the brain especially in the cortex and hippocampus. {ECO:0000269|PubMed:29343526}.
Sequence
MEGGAAAATPTALPYYVAFSQLLGLTLVAMTGAWLGLYRGGIAWESDLQFNAHPLCMVIG
LIFLQGNALLVYRVFRNEAKRTTKVLHGLLHIFALVIALVGLVAVFDYHRKKGYADLYSL
HSWCGILVFVLYFVQWLVGFSFFLFPGASFSLRSRYRPQHIFFGATIFLLSVGTALLGLK
EALLFN
LGGKYSAFEPEGVLANVLGLLLACFGGAVLYILTRADWKRPSQAEEQALSMDFK
TLTEGDSPGSQ
Sequence length 251
Interactions View interactions
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
10
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Orthostatic hypotension 2 Pathogenic rs772361572, rs1437737028 RCV000721911
RCV000721912
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Clear cell carcinoma of kidney Likely benign rs144041303 RCV005933263
CYB561-related disorder Benign; Likely benign rs35447397, rs140356224, rs72845004, rs144041303, rs772551964, rs148408441 RCV003906847
RCV003982419
RCV003979347
RCV003943967
RCV003959705
RCV003927176
Familial cancer of breast Likely benign rs144041303 RCV005933262
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Breast Neoplasms Associate 35486183
Death Associate 35486183
dopamine beta hydroxylase deficiency Associate 31822578
Hypotension Associate 31822578
Hypotension Orthostatic Associate 31822578
Inflammation Stimulate 24005050
Leukemia Associate 37584287
Leukemia Myeloid Acute Associate 37584287
Renal Insufficiency Associate 31822578