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

Gene ID: 339761, updated on 31-Oct-2022

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 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
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Genomic context

See CYP27C1 in Genome Data Viewer
Location:
2q14.3
Exon count:
10
Annotation release Status Assembly Chr Location
110 current GRCh38.p14 (GCF_000001405.40) 2 NC_000002.12 (127183832..127220299, complement)
110 current T2T-CHM13v2.0 (GCF_009914755.1) 2 NC_060926.1 (127618738..127655536, complement)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (127941408..127977875, complement)

Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene bridging integrator 1 Neighboring gene Sharpr-MPRA regulatory region 2128 Neighboring gene uncharacterized LOC105373605 Neighboring gene nucleolar protein interacting with the FHA domain of MKI67 pseudogene 9 Neighboring gene Sharpr-MPRA regulatory region 1591 Neighboring gene uncharacterized LOC124907883 Neighboring gene WBP11 pseudogene 2

Genomic regions, transcripts, and products

Expression

  • Project title: 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

Phenotypes

EBI GWAS Catalog

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

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • FLJ16008

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
PubMed 
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
PubMed 
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
PubMed 
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
PubMed 
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
PubMed 
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
 
is_active_in mitochondrion IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 

General protein information

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
NP_001354430.1
NP_001354431.1
XP_024308606.1

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.

Genomic

  1. NG_007986.2 RefSeqGene

    Range
    5000..41467
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001001665.4NP_001001665.3  cytochrome P450 27C1 isoform 1

    See identical proteins and their annotated locations for NP_001001665.3

    Status: REVIEWED

    Source sequence(s)
    AC110926, BC039307
    Consensus CDS
    CCDS33285.1
    UniProtKB/Swiss-Prot
    Q4G0S4
    UniProtKB/TrEMBL
    A0A024RAI7, A1P3N0
    Related
    ENSP00000334128.7, ENST00000335247.11
    Conserved Domains (1) summary
    pfam00067
    Location:1347
    p450; Cytochrome P450
  2. NM_001367501.1NP_001354430.1  cytochrome P450 27C1 isoform 1

    Status: REVIEWED

    Source sequence(s)
    AC110926
    Consensus CDS
    CCDS33285.1
    UniProtKB/TrEMBL
    A1P3N0
    Related
    ENSP00000387198.1, ENST00000409327.2
  3. NM_001367502.1NP_001354431.1  cytochrome P450 27C1 isoform 2

    Status: REVIEWED

    Source sequence(s)
    AC110926
    Consensus CDS
    CCDS92857.1
    UniProtKB/TrEMBL
    A0A7N4I3A3
    Related
    ENSP00000499243.1, ENST00000664447.2

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 110 details...Open this link in a new tab

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000002.12 Reference GRCh38.p14 Primary Assembly

    Range
    127183832..127220299 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_024452838.2XP_024308606.1  cytochrome P450 27C1 isoform X1

    Conserved Domains (1) summary
    pfam00067
    Location:1391
    p450; Cytochrome P450

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060926.1 Alternate T2T-CHM13v2.0

    Range
    127618738..127655536 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)