Gene Gene information from NCBI Gene database.
Entrez ID 220002
Gene name Cytochrome b561 family member A3
Gene symbol CYB561A3
Synonyms (NCBI Gene)
CYBASC3LCYTB
Chromosome 11
Chromosome location 11q12.2
miRNA miRNA information provided by mirtarbase database.
66
miRTarBase ID miRNA Experiments Reference
MIRT025675 hsa-miR-7-5p Microarray 19073608
MIRT027100 hsa-miR-103a-3p Sequencing 20371350
MIRT031578 hsa-miR-16-5p Sequencing 20371350
MIRT043995 hsa-miR-378a-5p CLASH 23622248
MIRT711266 hsa-miR-764 HITS-CLIP 19536157
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
19
GO ID Ontology Definition Evidence Reference
GO:0005515 Function Protein binding IPI 25416956, 32296183
GO:0005730 Component Nucleolus IDA
GO:0005764 Component Lysosome IEA
GO:0005765 Component Lysosomal membrane HDA 17897319
GO:0005765 Component Lysosomal membrane IBA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
618757 23014 ENSG00000162144
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q8NBI2
Protein name Lysosomal membrane ascorbate-dependent ferrireductase CYB561A3 (EC 7.2.1.3) (Cytochrome b ascorbate-dependent protein 3) (Cytochrome b561 family member A3) (Lysosomal cytochrome b) (LCytb)
Protein function Transmembrane reductase that uses ascorbate as an electron donor in the cytoplasm and transfers electrons across membranes to reduce iron cations Fe(3+) into Fe(2+) in the lumen of the late endosome and lysosome. Reduced iron can then be extrude
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF03188 Cytochrom_B561 46 182 Eukaryotic cytochrome b561 Family
Sequence
MVSGRFYLSCLLLGSLGSMCILFTIYWMQYWRGGFAWNGSIYMFNWHPVLMVAGMVVFYG
GASLVYRLPQSWVGPKLPWKLLHAALHLMAFVLTVVGLVAVFTFHNHGRTANLYSLHSWL
GITTVFLFACQWFLGFAVFLLPWASMWLRSLLKPIHVFFGAAILSLSIASVISGINEKLF
FS
LKNTTRPYHSLPSEAVFANSTGMLVVAFGLLVLYILLASSWKRPEPGILTDRQPLLHD
GE
Sequence length 242
Interactions View interactions
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
1
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
FAMILIAL APLASIA OF THE VERMIS Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References Evidence Score
Burkitt Lymphoma Associate 34232987
★☆☆☆☆
Found in Text Mining only
Mitochondrial Diseases Associate 34232987
★☆☆☆☆
Found in Text Mining only
Pigmentation Disorders Associate 38200130
★☆☆☆☆
Found in Text Mining only