CYP27C1 cytochrome P450 family 27 subfamily C member 1 [Homo sapiens (human)] - Gene

Summary

Official Symbol: CYP27C1provided by HGNC
Official Full Name: cytochrome P450 family 27 subfamily C member 1provided by HGNC
Primary source: HGNC:HGNC:33480
See related: Ensembl:ENSG00000186684 MIM:620605; AllianceGenome:HGNC:33480
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
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 RefSeq, Jul 2008]
Expression: Biased expression in skin (RPKM 1.8), urinary bladder (RPKM 0.5) and 11 other tissues See more
Orthologs: all
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Genomic context

Location:: 2q14.3

Exon count:: 10

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	2	NC_000002.12 (127183832..127220299, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	2	NC_060926.1 (127618738..127655536, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	2	NC_000002.11 (127941408..127977875, complement)

Chromosome 2 - NC_000002.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Cytochrome P450 27C1 Level Dictates Lung Cancer Tumorigenicity and Sensitivity towards Multiple Anticancer Agents and Its Potential Interplay with the IGF-1R/Akt/p53 Signaling Pathway.
Title: Cytochrome P450 27C1 Level Dictates Lung Cancer Tumorigenicity and Sensitivity towards Multiple Anticancer Agents and Its Potential Interplay with the IGF-1R/Akt/p53 Signaling Pathway.
Data suggest that the most likely catalytic mechanism for conversion of all-trans-retinol to 3,4-dehydroretinol by CYP27C1 begins with abstraction of a hydrogen atom from C-4 (or possibly C-3) initiating desaturation pathway, followed by sequential abstraction of a hydrogen atom or proton-coupled electron transfer. CYP27C1 appears to be localized to skin.
Title: Human mitochondrial cytochrome P450 27C1 is localized in skin and preferentially desaturates trans-retinol to 3,4-dehydroretinol.

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Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

EBI GWAS Catalog

Description
A genome-wide association study of self-rated health. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genetic Markers Associated With Plasma Protein C Level in African Americans: The Atherosclerosis Risk in Communities (ARIC) Study. EBI GWAS Catalog EBI GWAS CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

L17705 (e-PCR)
- UniSTS:66091

L17877 (e-PCR)
- UniSTS:61334

GDB:335751 (e-PCR)
- UniSTS:156601

L17971 (e-PCR)
- UniSTS:43966

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables 11-cis retinal binding	IDA Inferred from Direct Assay more info	PubMed
enables 11-cis-retinal 3,4-desaturase activity	IDA Inferred from Direct Assay more info	PubMed
enables all-trans retinal 3,4-desaturase activity	IBA Inferred from Biological aspect of Ancestor more info
enables all-trans retinal 3,4-desaturase activity	IDA Inferred from Direct Assay more info	PubMed
enables all-trans retinal binding	IDA Inferred from Direct Assay more info	PubMed
enables all-trans retinoic acid 3,4-desaturase activity	IBA Inferred from Biological aspect of Ancestor more info
enables all-trans retinoic acid 3,4-desaturase activity	IDA Inferred from Direct Assay more info	PubMed
enables all-trans retinol 3,4-desaturase activity	IBA Inferred from Biological aspect of Ancestor more info
enables all-trans retinol 3,4-desaturase activity	IDA Inferred from Direct Assay more info	PubMed
enables all-trans-retinol binding	IBA Inferred from Biological aspect of Ancestor more info
enables all-trans-retinol binding	IDA Inferred from Direct Assay more info	PubMed
enables heme binding	IEA Inferred from Electronic Annotation more info
enables iron ion binding	IEA Inferred from Electronic Annotation more info
enables monooxygenase activity	IEA Inferred from Electronic Annotation more info
enables retinoic acid binding	IBA Inferred from Biological aspect of Ancestor more info
enables retinoic acid binding	IDA Inferred from Direct Assay more info	PubMed

Process	Evidence Code	Pubs
involved_in retinal metabolic process	IDA Inferred from Direct Assay more info	PubMed
involved_in retinoic acid metabolic process	IDA Inferred from Direct Assay more info	PubMed
involved_in retinol metabolic process	IDA Inferred from Direct Assay more info	PubMed
involved_in retinol metabolic process	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
located_in intracellular membrane-bounded organelle	IDA Inferred from Direct Assay more info
located_in mitochondrial membrane	IEA Inferred from Electronic Annotation more info
located_in mitochondrion	HTP more info	PubMed
is_active_in mitochondrion	IBA Inferred from Biological aspect of Ancestor more info

General protein information

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Preferred Names: cytochrome P450 27C1

Names: all-trans retinol 3,4-desaturase; cytochrome P450, family 27, subfamily C, polypeptide 1; cytochrome P450, family 27, subfamily C, polypeptide 13

NP_001001665.3

EC 1.14.19.53

NP_001354430.1

EC 1.14.19.53

NP_001354431.1

EC 1.14.19.53

XP_024308606.1

EC 1.14.19.53

XP_054197674.1

EC 1.14.19.53

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.