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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
  • EC 1.14.-.- 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. 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

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

Genomics for CYP27C1 Gene

Regulatory Elements for CYP27C1 Gene

Enhancers for CYP27C1 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH02G127193 1 Ensembl ENCODE 9.4 +32.4 32414 1.6 L3MBTL2 TAF1 NR2F1 MAX CHD7 RAD21 NR2F2 YY1 FOSL1 JUND ERCC3 ENSG00000236682 CYP27C1 GC02P127197 NIFKP9
GH02G127143 1.2 Ensembl ENCODE dbSUPER 6.9 +80.6 80583 5.4 BCOR CTCF NR2F1 ZMYM3 MNT HDAC2 NFYB ADNP GABPB1 KDM1A BIN1 CYP27C1 ENSG00000236682 NIFKP9 LOC105373605
GH02G127153 1.2 Ensembl ENCODE dbSUPER 6.7 +71.5 71481 3.9 BCOR CTCF ZNF146 FOXA2 BHLHE40 ZMYM3 ZNF384 ZIC2 JUND GATA2 GPR17 BIN1 CYP27C1 ENSG00000236682 LIMS2 NIFKP9 LOC105373605
GH02G127148 1 Ensembl ENCODE 6.9 +76.8 76806 1.6 HDAC1 CTCF JUN GATA3 FOS MAFK NFE2L2 L3MBTL2 RNF2 BHLHE40 BIN1 CYP27C1 LIMS2 NIFKP9 LOC105373605
GH02G127883 1 ENCODE 5.1 -659.8 -659824 4.5 HDGF ATF1 FOXA2 CREB3L1 ARNT ARID4B SIN3A DMAP1 ZNF2 ZNF48 CYP27C1 MAP3K2 GC02P127894 GC02P127874
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around CYP27C1 on UCSC Golden Path with GeneCards custom track

Genomic Location for CYP27C1 Gene

Chromosome:
2
Start:
127,183,832 bp from pter
End:
127,226,356 bp from pter
Size:
42,525 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 isoforms=128
  • 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

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 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};
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.

Enzyme Numbers (IUBMB) for CYP27C1 Gene

Gene Ontology (GO) - Molecular Function for CYP27C1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004497 monooxygenase activity IEA --
GO:0005506 iron ion binding IEA --
GO:0016491 oxidoreductase activity IEA --
GO:0016705 oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen IEA --
GO:0020037 heme 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

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

Gene Ontology (GO) - Cellular Components for CYP27C1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0016020 membrane IEA --
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

Interacting Proteins for CYP27C1 Gene

Gene Ontology (GO) - Biological Process for CYP27C1 Gene

GO ID Qualified GO term Evidence PubMed IDs
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

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

Primer Products

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 35
  • 100 (a)
OneToOne
LOC470525 34
  • 99.46 (n)
cow
(Bos Taurus)
Mammalia CYP27C1 34 35
  • 87.54 (n)
dog
(Canis familiaris)
Mammalia CYP27C1 34 35
  • 87.28 (n)
oppossum
(Monodelphis domestica)
Mammalia CYP27C1 35
  • 76 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia CYP27C1 35
  • 75 (a)
OneToOne
chicken
(Gallus gallus)
Aves CYP27C1 34 35
  • 75.72 (n)
lizard
(Anolis carolinensis)
Reptilia CYP27C1 35
  • 49 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia LOC496805 34
  • 71.42 (n)
Str.7060 34
African clawed frog
(Xenopus laevis)
Amphibia Xl.5450 34
zebrafish
(Danio rerio)
Actinopterygii cyp27c1 34 35
  • 65.5 (n)
Dr.11380 34
fruit fly
(Drosophila melanogaster)
Insecta sad 35
  • 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)

Paralogs for CYP27C1 Gene

Paralogs for CYP27C1 Gene

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

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 Sequence Context AA Info Type
rs1000002630 -- 127,189,174(+) CCCCC(C/G/T)CCCTC intron-variant
rs1000110424 -- 127,195,567(+) GGCGG(C/T)GGCAG intron-variant
rs1000190095 -- 127,213,026(+) CAATA(A/G)GCAAG intron-variant
rs1000242334 -- 127,212,738(+) AGCAT(A/T)CCCTT intron-variant
rs1000472323 -- 127,192,011(+) CACCC(A/C/T)GAGCC 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)

Relevant External Links 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

Relevant External Links for CYP27C1

Genetic Association Database (GAD)
CYP27C1
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
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 V.M. … Guengerich F.P. (FEBS Lett. 2016) 4 64
  2. Genetic markers associated with plasma protein C level in African Americans: the atherosclerosis risk in communities (ARIC) study. (PMID: 25376901) Munir M.S. … Folsom A.R. (Genet. Epidemiol. 2014) 3 64
  3. A genome-wide association study of self-rated health. (PMID: 20707712) Mosing M.A. … Martin N.G. (Twin Res Hum Genet 2010) 3 64
  4. Heterologous expression, purification, and properties of human cytochrome P450 27C1. (PMID: 16360114) Wu Z.L. … Guengerich F.P. (Arch. Biochem. Biophys. 2006) 4 64
  5. Generation and annotation of the DNA sequences of human chromosomes 2 and 4. (PMID: 15815621) Hillier L.W. … Wilson R.K. (Nature 2005) 4 64

Products for CYP27C1 Gene

Sources for CYP27C1 Gene

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