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Aliases for CYP27C1 Gene

Aliases for CYP27C1 Gene

  • Cytochrome P450 Family 27 Subfamily C Member 1 2 3 5
  • Cytochrome P450, Family 27, Subfamily C, Polypeptide 1 2 3
  • All-Trans Retinol 3,4-Desaturase 3 4
  • Cytochrome P450, Family 27, Subfamily C, Polypeptide 13 3
  • Cytochrome P450 27C1 3
  • EC 1.14.19.53 4

External Ids for CYP27C1 Gene

Previous GeneCards Identifiers for CYP27C1 Gene

  • GC02M127658
  • GC02M127941
  • GC02M120248

Summaries for CYP27C1 Gene

Entrez Gene Summary for CYP27C1 Gene

  • 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 RefSeq, Jul 2008]

GeneCards Summary for CYP27C1 Gene

CYP27C1 (Cytochrome P450 Family 27 Subfamily C Member 1) is a Protein Coding gene. Among its related pathways are Cytochrome P450 - arranged by substrate type and Drug metabolism - cytochrome P450. Gene Ontology (GO) annotations related to this gene include iron ion binding and oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen. An important paralog of this gene is CYP27B1.

UniProtKB/Swiss-Prot for CYP27C1 Gene

  • Catalyzes the conversion of all-trans retinol (also called vitamin A1, the precursor of 11-cis retinal) to 3,4-didehydroretinol (also called vitamin A2, the precursor of 11-cis 3,4-didehydroretinal). Also acts on all-trans retinal and all-trans retinoic acid.

Gene Wiki entry for CYP27C1 Gene

Additional gene information for CYP27C1 Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for CYP27C1 Gene

Genomics for CYP27C1 Gene

GeneHancer (GH) Regulatory Elements for CYP27C1 Gene

Promoters and enhancers for CYP27C1 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH02J127224 Enhancer 1.1 Ensembl ENCODE 650.7 +0.1 63 2.7 PKNOX1 CLOCK FOXA2 NEUROD1 SIN3A FEZF1 IRF4 KLF7 FOS RUNX3 CYP27C1 ERCC3 MAP3K2 WDR33 AMMECR1L UGGT1 ENSG00000236682 GC02P127197
GH02J127883 Promoter/Enhancer 2 EPDnew Ensembl ENCODE 5.2 -659.8 -659824 4.5 HDGF FOXA2 SMAD1 ARNT ARID4B SIN3A DMAP1 ZNF2 YY1 POLR2B AMMECR1L GC02P127897 PIR57738 ENSG00000272667 WDR33 ERCC3 SAP130 MAP3K2 CYP27C1 GC02P127874
GH02J127193 Enhancer 0.8 Ensembl ENCODE 9.4 +32.4 32414 1.6 TAF1 RXRA MAX REST RAD21 NR2F2 YY1 SP1 JUND ATF3 ERCC3 ENSG00000236682 CYP27C1 GC02P127197 NIFKP9
GH02J127143 Enhancer 0.9 Ensembl ENCODE dbSUPER 6.9 +80.6 80582 5.4 CTCF USF1 PHF21A NFYB MNT BIN1 CYP27C1 ENSG00000236682 NIFKP9 LOC105373605
GH02J127153 Enhancer 0.9 Ensembl ENCODE dbSUPER 6.7 +71.5 71481 3.9 JUND GLIS1 FOS ZIC2 FOXP1 GPR17 BIN1 CYP27C1 ENSG00000236682 LIMS2 NIFKP9 LOC105373605
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around CYP27C1 on UCSC Golden Path with GeneCards custom track

Genomic Locations for CYP27C1 Gene

Genomic Locations for CYP27C1 Gene
chr2:127,183,832-127,226,356
(GRCh38/hg38)
Size:
42,525 bases
Orientation:
Minus strand
chr2:127,941,412-127,977,654
(GRCh37/hg19)
Size:
36,243 bases
Orientation:
Minus strand

Genomic View for CYP27C1 Gene

Genes around CYP27C1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
CYP27C1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for CYP27C1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for CYP27C1 Gene

Proteins for CYP27C1 Gene

  • Protein details for CYP27C1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q4G0S4-C27C1_HUMAN
    Recommended name:
    Cytochrome P450 27C1
    Protein Accession:
    Q4G0S4
    Secondary Accessions:
    • Q6ZNI7

    Protein attributes for CYP27C1 Gene

    Size:
    372 amino acids
    Molecular mass:
    42632 Da
    Cofactor:
    Name=heme; Xref=ChEBI:CHEBI:30413;
    Quaternary structure:
    No Data Available

neXtProt entry for CYP27C1 Gene

Post-translational modifications for CYP27C1 Gene

  • Ubiquitination at posLast=128128
  • Modification sites at PhosphoSitePlus

Other Protein References for CYP27C1 Gene

No data available for DME Specific Peptides for CYP27C1 Gene

Domains & Families for CYP27C1 Gene

Gene Families for CYP27C1 Gene

HGNC:
IUPHAR :
Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Protein Domains for CYP27C1 Gene

Suggested Antigen Peptide Sequences for CYP27C1 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q4G0S4

UniProtKB/Swiss-Prot:

C27C1_HUMAN :
  • Belongs to the cytochrome P450 family.
Family:
  • Belongs to the cytochrome P450 family.
genes like me logo Genes that share domains with CYP27C1: view

Function for CYP27C1 Gene

Molecular function for CYP27C1 Gene

UniProtKB/Swiss-Prot Function:
Catalyzes the conversion of all-trans retinol (also called vitamin A1, the precursor of 11-cis retinal) to 3,4-didehydroretinol (also called vitamin A2, the precursor of 11-cis 3,4-didehydroretinal). Also acts on all-trans retinal and all-trans retinoic acid.
UniProtKB/Swiss-Prot CatalyticActivity:
All-trans-retinol + 2 reduced adrenodoxin + 2 H(+) + O(2) = all-trans-3,4-didehydroretinol + 2 oxidized adrenodoxin + 2 H(2)O.
UniProtKB/Swiss-Prot BiophysicochemicalProperties:
Kinetic parameters: KM=0.5 uM for all-trans retinol {ECO:0000269 PubMed:27059013}; KM=0.35 uM for all-trans retinal {ECO:0000269 PubMed:27059013}; KM=0.87 uM for all-trans retinoic acid {ECO:0000269 PubMed:27059013};

Enzyme Numbers (IUBMB) for CYP27C1 Gene

Phenotypes From GWAS Catalog for CYP27C1 Gene

Gene Ontology (GO) - Molecular Function for CYP27C1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001972 retinoic acid binding IDA 27059013
GO:0004497 monooxygenase activity IEA --
GO:0005502 11-cis retinal binding IDA 27059013
GO:0005503 all-trans retinal binding IDA 27059013
GO:0005506 iron ion binding IEA --
genes like me logo Genes that share ontologies with CYP27C1: view
genes like me logo Genes that share phenotypes with CYP27C1: view

Animal Model Products

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for CYP27C1

Clone Products

No data available for Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for CYP27C1 Gene

Localization for CYP27C1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for CYP27C1 Gene

Membrane.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for CYP27C1 gene
Compartment Confidence
mitochondrion 3
extracellular 1
nucleus 1
cytosol 1

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for CYP27C1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005575 cellular_component ND --
GO:0016020 membrane IEA --
GO:0043231 intracellular membrane-bounded organelle IDA --
genes like me logo Genes that share ontologies with CYP27C1: view

Pathways & Interactions for CYP27C1 Gene

genes like me logo Genes that share pathways with CYP27C1: view

Pathways by source for CYP27C1 Gene

2 BioSystems pathways for CYP27C1 Gene
1 KEGG pathway for CYP27C1 Gene

Interacting Proteins for CYP27C1 Gene

Gene Ontology (GO) - Biological Process for CYP27C1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0042572 retinol metabolic process IDA 27059013
GO:0042573 retinoic acid metabolic process IDA 27059013
GO:0042574 retinal metabolic process IDA 27059013
GO:0055114 oxidation-reduction process IEA --
genes like me logo Genes that share ontologies with CYP27C1: view

No data available for SIGNOR curated interactions for CYP27C1 Gene

Drugs & Compounds for CYP27C1 Gene

(1) Drugs for CYP27C1 Gene - From: HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
heme Pharma Agonist 0
genes like me logo Genes that share compounds with CYP27C1: view

Transcripts for CYP27C1 Gene

mRNA/cDNA for CYP27C1 Gene

(3) REFSEQ mRNAs :
(2) Additional mRNA sequences :
(8) Selected AceView cDNA sequences:
(2) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for CYP27C1 Gene

Cytochrome P450, family 27, subfamily C, polypeptide 1:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for CYP27C1

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for CYP27C1 Gene

No ASD Table

Relevant External Links for CYP27C1 Gene

GeneLoc Exon Structure for
CYP27C1
ECgene alternative splicing isoforms for
CYP27C1

Expression for CYP27C1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for CYP27C1 Gene

mRNA differential expression in normal tissues according to GTEx for CYP27C1 Gene

This gene is overexpressed in Cervix - Ectocervix (x5.8), Skin - Not Sun Exposed (Suprapubic) (x5.4), and Skin - Sun Exposed (Lower leg) (x5.3).

NURSA nuclear receptor signaling pathways regulating expression of CYP27C1 Gene:

CYP27C1

SOURCE GeneReport for Unigene cluster for CYP27C1 Gene:

Hs.407639

mRNA Expression by UniProt/SwissProt for CYP27C1 Gene:

Q4G0S4-C27C1_HUMAN
Tissue specificity: Widely expressed, with highest levels in the liver, kidney and pancreas.
genes like me logo Genes that share expression patterns with CYP27C1: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , Protein differential expression in normal tissues , Protein expression , Protein tissue co-expression partners , Evidence on tissue expression from TISSUES and Phenotype-based relationships between genes and organs from Gene ORGANizer for CYP27C1 Gene

Orthologs for CYP27C1 Gene

This gene was present in the common ancestor of animals.

Orthologs for CYP27C1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia CYP27C1 34
  • 100 (a)
OneToOne
LOC470525 33
  • 99.46 (n)
cow
(Bos Taurus)
Mammalia CYP27C1 34 33
  • 87.54 (n)
OneToOne
dog
(Canis familiaris)
Mammalia CYP27C1 34 33
  • 87.28 (n)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia CYP27C1 34
  • 76 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia CYP27C1 34
  • 75 (a)
OneToOne
chicken
(Gallus gallus)
Aves CYP27C1 34 33
  • 75.72 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia CYP27C1 34
  • 49 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia LOC496805 33
  • 71.42 (n)
Str.7060 33
African clawed frog
(Xenopus laevis)
Amphibia Xl.5450 33
zebrafish
(Danio rerio)
Actinopterygii cyp27c1 34 33
  • 65.5 (n)
OneToOne
Dr.11380 33
fruit fly
(Drosophila melanogaster)
Insecta sad 34
  • 16 (a)
OneToMany
Species where no ortholog for CYP27C1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • mouse (Mus musculus)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rat (Rattus norvegicus)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for CYP27C1 Gene

ENSEMBL:
Gene Tree for CYP27C1 (if available)
TreeFam:
Gene Tree for CYP27C1 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for CYP27C1: view image

Paralogs for CYP27C1 Gene

(6) SIMAP similar genes for CYP27C1 Gene using alignment to 1 proteins:

  • C27C1_HUMAN
genes like me logo Genes that share paralogs with CYP27C1: view

Variants for CYP27C1 Gene

Sequence variations from dbSNP and Humsavar for CYP27C1 Gene

SNP ID Clin Chr 02 pos Variation AA Info Type
rs1000002630 -- 127,189,174(-) C/G/T genic_downstream_transcript_variant, intron_variant
rs1000110424 -- 127,195,567(-) T/C intron_variant
rs1000190095 -- 127,213,026(-) G/A genic_upstream_transcript_variant, intron_variant
rs1000242334 -- 127,212,738(-) T/A genic_upstream_transcript_variant, intron_variant
rs1000472323 -- 127,192,011(-) T/A/C genic_downstream_transcript_variant, intron_variant

Structural Variations from Database of Genomic Variants (DGV) for CYP27C1 Gene

Variant ID Type Subtype PubMed ID
dgv4066n100 CNV gain 25217958
esv2759090 CNV gain 17122850
esv3592352 CNV gain 21293372
nsv999422 CNV gain 25217958

Variation tolerance for CYP27C1 Gene

Residual Variation Intolerance Score: 11% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.07; 37.94% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for CYP27C1 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
CYP27C1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for CYP27C1 Gene

Disorders for CYP27C1 Gene

Additional Disease Information for CYP27C1

No disorders were found for CYP27C1 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for CYP27C1 Gene

Publications for CYP27C1 Gene

  1. Human cytochrome P450 27C1 catalyzes 3,4-desaturation of retinoids. (PMID: 27059013) Kramlinger VM … Guengerich FP (FEBS letters 2016) 3 4 58
  2. Architecture of the human interactome defines protein communities and disease networks. (PMID: 28514442) Huttlin EL … Harper JW (Nature 2017) 3 58
  3. Human mitochondrial cytochrome P450 27C1 is localized in skin and preferentially desaturates trans-retinol to 3,4-dehydroretinol. (PMID: 28701464) Johnson KM … Guengerich FP (The Journal of biological chemistry 2017) 3 58
  4. Protein interactome mining defines melatonin MT1 receptors as integral component of presynaptic protein complexes of neurons. (PMID: 26514267) Benleulmi-Chaachoua A … Jockers R (Journal of pineal research 2016) 3 58
  5. Genetic markers associated with plasma protein C level in African Americans: the atherosclerosis risk in communities (ARIC) study. (PMID: 25376901) Munir MS … Folsom AR (Genetic epidemiology 2014) 3 58

Products for CYP27C1 Gene

Sources for CYP27C1 Gene

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