Gene Gene information from NCBI Gene database.
Entrez ID 339761
Gene name Cytochrome P450 family 27 subfamily C member 1
Gene symbol CYP27C1
Synonyms (NCBI Gene)
-
Chromosome 2
Chromosome location 2q14.3
Summary This gene encodes a member of the cytochrome P450 superfamily of enzymes. The cytochrome P450 proteins are monooxygenases which catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids. [provided by RefSe
miRNA miRNA information provided by mirtarbase database.
345
miRTarBase ID miRNA Experiments Reference
MIRT017938 hsa-miR-335-5p Microarray 18185580
MIRT694150 hsa-miR-4781-3p HITS-CLIP 23313552
MIRT694149 hsa-miR-4716-5p HITS-CLIP 23313552
MIRT694148 hsa-miR-4732-3p HITS-CLIP 23313552
MIRT694147 hsa-miR-875-3p HITS-CLIP 23313552
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
31
GO ID Ontology Definition Evidence Reference
GO:0001972 Function Retinoic acid binding IBA
GO:0001972 Function Retinoic acid binding IDA 27059013
GO:0004497 Function Monooxygenase activity IEA
GO:0005502 Function 11-cis retinal binding IDA 27059013
GO:0005503 Function All-trans retinal binding IDA 27059013
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
620605 33480 ENSG00000186684
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q4G0S4
Protein name Cytochrome P450 27C1 (EC 1.14.19.53) (All-trans retinol 3,4-desaturase)
Protein function [Isoform 2]: A cytochrome P450 monooxygenase that catalyzes the 3,4 desaturation of all-trans-retinol (also called vitamin A1) to all-trans-3,4-didehydroretinol (also called vitamin A2) in the skin. Desaturates with lower efficiency all-trans re
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00067 p450 1 368 Cytochrome P450 Domain
Tissue specificity TISSUE SPECIFICITY: Widely expressed, with highest levels in the liver, kidney and pancreas. {ECO:0000269|PubMed:16360114}.; TISSUE SPECIFICITY: [Isoform 2]: Expressed in the skin (at protein level). {ECO:0000269|PubMed:28701464}.
Sequence
Sequence length 542
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG 
  Retinol metabolism  
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
3
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
AUTISM SPECTRUM DISORDER CTD
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
STROKE GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
UPPER AERODIGESTIVE TRACT NEOPLASM GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References Evidence Score
Lung Neoplasms Associate 35887201
★☆☆☆☆
Found in Text Mining only