Gene Gene information from NCBI Gene database.
Entrez ID 606495
Gene name Cytochrome b5 reductase like
Gene symbol CYB5RL
Synonyms (NCBI Gene)
-
Chromosome 1
Chromosome location 1p32.3
miRNA miRNA information provided by mirtarbase database.
157
miRTarBase ID miRNA Experiments Reference
MIRT919694 hsa-miR-1236 CLIP-seq
MIRT919695 hsa-miR-1245b-3p CLIP-seq
MIRT919696 hsa-miR-1253 CLIP-seq
MIRT919697 hsa-miR-1271 CLIP-seq
MIRT919698 hsa-miR-1299 CLIP-seq
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
8
GO ID Ontology Definition Evidence Reference
GO:0004128 Function Cytochrome-b5 reductase activity, acting on NAD(P)H IEA
GO:0004128 Function Cytochrome-b5 reductase activity, acting on NAD(P)H TAS
GO:0005654 Component Nucleoplasm IDA
GO:0005789 Component Endoplasmic reticulum membrane IEA
GO:0005789 Component Endoplasmic reticulum membrane TAS
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
HGNC N/A HGNC
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q6IPT4
Protein name NADH-cytochrome b5 reductase-like (EC 1.6.2.2)
Protein function NADH-cytochrome b5 reductases are involved in desaturation and elongation of fatty acids, cholesterol biosynthesis, drug metabolism, and, in erythrocyte, methemoglobin reduction.
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF09791 Oxidored-like 14 57 Oxidoreductase-like protein, N-terminal Family
PF00970 FAD_binding_6 79 176 Oxidoreductase FAD-binding domain Domain
PF00175 NAD_binding_1 186 300 Oxidoreductase NAD-binding domain Domain
Sequence
Sequence length 315
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG  Reactome
  Biosynthesis of various nucleotide sugars   Erythrocytes take up carbon dioxide and release oxygen
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
2
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
COLOR VISION DISORDER GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Malignant tumor of esophagus Uncertain significance ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations