Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
284613
Gene name Gene Name - the full gene name approved by the HGNC.
Cytochrome b561 family member D1
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
CYB561D1
Synonyms (NCBI Gene) Gene synonyms aliases
-
Chromosome Chromosome number
1
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
1p13.3
miRNA miRNA information provided by mirtarbase database.
miRTarBase ID miRNA Experiments Reference
MIRT048320 hsa-miR-106a-5p CLASH 23622248
MIRT046314 hsa-miR-23b-3p CLASH 23622248
MIRT712544 hsa-miR-365a-3p HITS-CLIP 19536157
MIRT712543 hsa-miR-365b-3p HITS-CLIP 19536157
MIRT712542 hsa-miR-4667-3p HITS-CLIP 19536157
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0005515 Function Protein binding IPI 32296183, 35156780
GO:0016020 Component Membrane IEA
GO:0046872 Function Metal ion binding IEA
GO:0055085 Process Transmembrane transport IEA
GO:0140571 Function Transmembrane ascorbate ferrireductase activity IEA
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
HGNC N/A HGNC
Protein
UniProt ID Q8N8Q1
Protein name Probable transmembrane reductase CYB561D1 (EC 7.2.1.3) (Cytochrome b561 domain-containing protein 1)
Protein function Probable transmembrane reductase that may use ascorbate as an electron donor and transfer electrons across membranes to reduce monodehydro-L-ascorbate radical and iron cations Fe(3+) in another cellular compartment.
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF03188 Cytochrom_B561 54 191 Eukaryotic cytochrome b561 Family
Sequence
MQPLEVGLVPAPAGEPRLTRWLRRGSGILAHLVALGFTIFLTALSRPGTSLFSWHPVFMA
LAFCLCMAEAILLFSPEHSLFFFCSRKARIRLHWAGQTLAILCAALGLGFIISSRTRSEL
PHLVSWHSWVGALTLLATAVQALCGLCLLCPRAARVSRVARLKLYHLTCGLVVYLMATVT
VLLGMYSVWFQ
AQIKGAAWYLCLALPVYPALVIMHQISRSYLPRKKMEM
Sequence length 229
Interactions View interactions
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
Dyslexia Dyslexia N/A N/A GWAS