UniProtKB - Q4G0S4 (C27C1_HUMAN)
Cytochrome P450 27C1
CYP27C1
Functioni
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 retinal and all-trans retinoic acid. Forms minor amounts of 3-hydroxy and 4-hydroxy all-trans-retinol derivatives. Mechanistically, uses molecular oxygen inserting one oxygen atom into a substrate and reducing the second into a water molecule. Two electrons are provided by NADPH via a two-protein mitochondrial transfer system comprising flavoprotein FDXR (adrenodoxin/ferredoxin reductase) and nonheme iron-sulfur protein FDX1 or FDX2 (adrenodoxin/ferredoxin).
2 PublicationsCatalytic activityi
- all-trans-retinol + 2 H+ + O2 + 2 reduced [adrenodoxin] = all-trans-3,4-didehydroretinol + 2 H2O + 2 oxidized [adrenodoxin]2 PublicationsEC:1.14.19.532 PublicationsThis reaction proceeds in the forward2 Publications direction.
- all-trans-retinol + 2 H+ + O2 + 2 reduced [adrenodoxin] = all-trans-4-hydroxyretinol + H2O + 2 oxidized [adrenodoxin]2 PublicationsThis reaction proceeds in the forward2 Publications direction.This reaction proceeds in the forward2 Publications direction.
- all-trans-retinol + 2 H+ + O2 + 2 reduced [adrenodoxin] = all-trans-3-hydroxyretinol + H2O + 2 oxidized [adrenodoxin]1 PublicationThis reaction proceeds in the forward1 Publication direction.This reaction proceeds in the forward1 Publication direction.
Cofactori
Kineticsi
- KM=0.5 µM for all-trans retinol1 Publication
- KM=0.35 µM for all-trans retinal1 Publication
- KM=0.87 µM for all-trans retinoic acid1 Publication
: retinol metabolism Pathwayi
This protein is involved in the pathway retinol metabolism, which is part of Cofactor metabolism.2 PublicationsView all proteins of this organism that are known to be involved in the pathway retinol metabolism and in Cofactor metabolism.
Sites
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Metal bindingi | 488 | Iron (heme axial ligand)By similarity | 1 |
GO - Molecular functioni
- 11-cis-retinal 3,4-desaturase activity Source: UniProtKB
- 11-cis retinal binding Source: UniProtKB
- all-trans retinal 3,4-desaturase activity Source: UniProtKB
- all-trans retinal binding Source: UniProtKB
- all-trans retinoic acid 3,4-desaturase activity Source: UniProtKB
- all-trans retinol 3,4-desaturase activity Source: UniProtKB
- all-trans-retinol binding Source: UniProtKB
- heme binding Source: InterPro
- iron ion binding Source: InterPro
- monooxygenase activity Source: UniProtKB-KW
- retinoic acid binding Source: UniProtKB
GO - Biological processi
- retinal metabolic process Source: UniProtKB
- retinoic acid metabolic process Source: UniProtKB
- retinol metabolic process Source: UniProtKB
Keywordsi
Molecular function | Monooxygenase, Oxidoreductase |
Biological process | Lipid metabolism |
Ligand | Heme, Iron, Metal-binding |
Enzyme and pathway databases
BRENDAi | 1.14.19.53, 2681 |
PathwayCommonsi | Q4G0S4 |
SignaLinki | Q4G0S4 |
UniPathwayi | UPA00912 |
Chemistry databases
SwissLipidsi | SLP:000001617 |
Names & Taxonomyi
Protein namesi | Recommended name: Cytochrome P450 27C11 Publication (EC:1.14.19.532 Publications)Alternative name(s): All-trans retinol 3,4-desaturase1 Publication |
Gene namesi | Name:CYP27C1Imported |
Organismi | Homo sapiens (Human) |
Taxonomic identifieri | 9606 [NCBI] |
Taxonomic lineagei | Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo |
Proteomesi |
|
Organism-specific databases
HGNCi | HGNC:33480, CYP27C1 |
neXtProti | NX_Q4G0S4 |
VEuPathDBi | HostDB:ENSG00000186684 |
Subcellular locationi
Mitochondrion
- Mitochondrion membrane By similarity; Peripheral membrane protein By similarity
Mitochondrion
- mitochondrial membrane Source: UniProtKB-SubCell
- mitochondrion Source: GO_Central
Other locations
- intracellular membrane-bounded organelle Source: HPA
Keywords - Cellular componenti
Membrane, MitochondrionPathology & Biotechi
Organism-specific databases
DisGeNETi | 339761 |
OpenTargetsi | ENSG00000186684 |
PharmGKBi | PA162383091 |
Miscellaneous databases
Pharosi | Q4G0S4, Tbio |
Genetic variation databases
BioMutai | CYP27C1 |
DMDMi | 296434415 |
PTM / Processingi
Molecule processing
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Transit peptidei | 1 – 80 | MitochondrionSequence analysisAdd BLAST | 80 | |
ChainiPRO_0000293732 | 81 – 542 | Cytochrome P450 27C1Sequence analysisAdd BLAST | 462 |
Proteomic databases
EPDi | Q4G0S4 |
MassIVEi | Q4G0S4 |
PaxDbi | Q4G0S4 |
PeptideAtlasi | Q4G0S4 |
PRIDEi | Q4G0S4 |
ProteomicsDBi | 62124 |
PTM databases
iPTMneti | Q4G0S4 |
PhosphoSitePlusi | Q4G0S4 |
Expressioni
Tissue specificityi
Gene expression databases
Bgeei | ENSG00000186684, Expressed in tendon of biceps brachii and 113 other tissues |
ExpressionAtlasi | Q4G0S4, baseline and differential |
Genevisiblei | Q4G0S4, HS |
Organism-specific databases
HPAi | ENSG00000186684, Tissue enhanced (cervix, skin) |
Interactioni
Protein-protein interaction databases
BioGRIDi | 130927, 4 interactors |
IntActi | Q4G0S4, 2 interactors |
STRINGi | 9606.ENSP00000334128 |
Miscellaneous databases
RNActi | Q4G0S4, protein |
Family & Domainsi
Region
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Regioni | 20 – 75 | DisorderedSequence analysisAdd BLAST | 56 |
Sequence similaritiesi
Keywords - Domaini
Transit peptidePhylogenomic databases
eggNOGi | KOG0159, Eukaryota |
GeneTreei | ENSGT00950000182905 |
HOGENOMi | CLU_001570_28_3_1 |
InParanoidi | Q4G0S4 |
OMAi | EFFWKDG |
OrthoDBi | 481145at2759 |
PhylomeDBi | Q4G0S4 |
TreeFami | TF105094 |
Family and domain databases
Gene3Di | 1.10.630.10, 1 hit |
InterProi | View protein in InterPro IPR001128, Cyt_P450 IPR017972, Cyt_P450_CS IPR002401, Cyt_P450_E_grp-I IPR036396, Cyt_P450_sf |
Pfami | View protein in Pfam PF00067, p450, 1 hit |
PRINTSi | PR00463, EP450I PR00385, P450 |
SUPFAMi | SSF48264, SSF48264, 1 hit |
PROSITEi | View protein in PROSITE PS00086, CYTOCHROME_P450, 1 hit |
s (2+)i Sequence
Sequence statusi: Complete.
: The displayed sequence is further processed into a mature form. Sequence processingi
This entry describes 2 produced by isoformsialternative promoter usage. AlignAdd to basketThis entry has 2 described isoforms and 1 potential isoform that is computationally mapped.Show allAlign All
This isoform has been chosen as the sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry. canonicali
10 20 30 40 50
MQTSAMALLA RILRAGLRPA PERGGLLGGG APRRPQPAGA RLPAGARAED
60 70 80 90 100
KGAGRPGSPP GGGRAEGPRS LAAMPGPRTL ANLAEFFCRD GFSRIHEIQQ
110 120 130 140 150
KHTREYGKIF KSHFGPQFVV SIADRDMVAQ VLRAEGAAPQ RANMESWREY
160 170 180 190 200
RDLRGRATGL ISAEGEQWLK MRSVLRQRIL KPKDVAIYSG EVNQVIADLI
210 220 230 240 250
KRIYLLRSQA EDGETVTNVN DLFFKYSMEG VATILYESRL GCLENSIPQL
260 270 280 290 300
TVEYIEALEL MFSMFKTSMY AGAIPRWLRP FIPKPWREFC RSWDGLFKFS
310 320 330 340 350
QIHVDNKLRD IQYQMDRGRR VSGGLLTYLF LSQALTLQEI YANVTEMLLA
360 370 380 390 400
GVDTTSFTLS WTVYLLARHP EVQQTVYREI VKNLGERHVP TAADVPKVPL
410 420 430 440 450
VRALLKETLR LFPVLPGNGR VTQEDLVIGG YLIPKGTQLA LCHYATSYQD
460 470 480 490 500
ENFPRAKEFR PERWLRKGDL DRVDNFGSIP FGHGVRSCIG RRIAELEIHL
510 520 530 540
VVIQLLQHFE IKTSSQTNAV HAKTHGLLTP GGPIHVRFVN RK
Computationally mapped potential isoform sequencesi
There is 1 potential isoform mapped to this entry.BLASTAlignShow allAdd to basketA0A7N4I3A3 | A0A7N4I3A3_HUMAN | Cytochrome P450 27C1 | CYP27C1 | 537 | Annotation score: |
Sequence cautioni
Experimental Info
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Sequence conflicti | 365 | L → I in AAH39307 (PubMed:15815621).Curated | 1 |
Natural variant
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_033120 | 529 | T → M. Corresponds to variant dbSNP:rs35075135Ensembl. | 1 |
Alternative sequence
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Alternative sequenceiVSP_060866 | 1 – 170 | Missing in isoform 1. Add BLAST | 170 |
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi Links Updated | AK131190 mRNA Translation: BAD18388.1 CH471103 Genomic DNA Translation: EAW95310.1 Different initiation. AC110926 Genomic DNA No translation available. BC039307 mRNA Translation: AAH39307.1 |
CCDSi | CCDS33285.1 [Q4G0S4-1] |
RefSeqi | NP_001001665.3, NM_001001665.3 [Q4G0S4-1] |
Genome annotation databases
Ensembli | ENST00000335247; ENSP00000334128; ENSG00000186684 [Q4G0S4-1] ENST00000409327; ENSP00000387198; ENSG00000186684 [Q4G0S4-1] |
GeneIDi | 339761 |
KEGGi | hsa:339761 |
UCSCi | uc002tod.3, human [Q4G0S4-2] |
Keywords - Coding sequence diversityi
Alternative promoter usageSimilar proteinsi
Cross-referencesi
Web resourcesi
Protein Spotlight Seeing through the murk - Issue 192 of June 2017 |
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi Links Updated | AK131190 mRNA Translation: BAD18388.1 CH471103 Genomic DNA Translation: EAW95310.1 Different initiation. AC110926 Genomic DNA No translation available. BC039307 mRNA Translation: AAH39307.1 |
CCDSi | CCDS33285.1 [Q4G0S4-1] |
RefSeqi | NP_001001665.3, NM_001001665.3 [Q4G0S4-1] |
3D structure databases
SMRi | Q4G0S4 |
ModBasei | Search... |
Protein-protein interaction databases
BioGRIDi | 130927, 4 interactors |
IntActi | Q4G0S4, 2 interactors |
STRINGi | 9606.ENSP00000334128 |
Chemistry databases
SwissLipidsi | SLP:000001617 |
PTM databases
iPTMneti | Q4G0S4 |
PhosphoSitePlusi | Q4G0S4 |
Genetic variation databases
BioMutai | CYP27C1 |
DMDMi | 296434415 |
Proteomic databases
EPDi | Q4G0S4 |
MassIVEi | Q4G0S4 |
PaxDbi | Q4G0S4 |
PeptideAtlasi | Q4G0S4 |
PRIDEi | Q4G0S4 |
ProteomicsDBi | 62124 |
Protocols and materials databases
Antibodypediai | 47562, 89 antibodies from 18 providers |
DNASUi | 339761 |
Genome annotation databases
Ensembli | ENST00000335247; ENSP00000334128; ENSG00000186684 [Q4G0S4-1] ENST00000409327; ENSP00000387198; ENSG00000186684 [Q4G0S4-1] |
GeneIDi | 339761 |
KEGGi | hsa:339761 |
UCSCi | uc002tod.3, human [Q4G0S4-2] |
Organism-specific databases
CTDi | 339761 |
DisGeNETi | 339761 |
GeneCardsi | CYP27C1 |
HGNCi | HGNC:33480, CYP27C1 |
HPAi | ENSG00000186684, Tissue enhanced (cervix, skin) |
neXtProti | NX_Q4G0S4 |
OpenTargetsi | ENSG00000186684 |
PharmGKBi | PA162383091 |
VEuPathDBi | HostDB:ENSG00000186684 |
GenAtlasi | Search... |
Phylogenomic databases
eggNOGi | KOG0159, Eukaryota |
GeneTreei | ENSGT00950000182905 |
HOGENOMi | CLU_001570_28_3_1 |
InParanoidi | Q4G0S4 |
OMAi | EFFWKDG |
OrthoDBi | 481145at2759 |
PhylomeDBi | Q4G0S4 |
TreeFami | TF105094 |
Enzyme and pathway databases
UniPathwayi | UPA00912 |
BRENDAi | 1.14.19.53, 2681 |
PathwayCommonsi | Q4G0S4 |
SignaLinki | Q4G0S4 |
Miscellaneous databases
BioGRID-ORCSi | 339761, 5 hits in 1039 CRISPR screens |
ChiTaRSi | CYP27C1, human |
GeneWikii | CYP27C1 |
GenomeRNAii | 339761 |
Pharosi | Q4G0S4, Tbio |
PROi | PR:Q4G0S4 |
RNActi | Q4G0S4, protein |
Gene expression databases
Bgeei | ENSG00000186684, Expressed in tendon of biceps brachii and 113 other tissues |
ExpressionAtlasi | Q4G0S4, baseline and differential |
Genevisiblei | Q4G0S4, HS |
Family and domain databases
Gene3Di | 1.10.630.10, 1 hit |
InterProi | View protein in InterPro IPR001128, Cyt_P450 IPR017972, Cyt_P450_CS IPR002401, Cyt_P450_E_grp-I IPR036396, Cyt_P450_sf |
Pfami | View protein in Pfam PF00067, p450, 1 hit |
PRINTSi | PR00463, EP450I PR00385, P450 |
SUPFAMi | SSF48264, SSF48264, 1 hit |
PROSITEi | View protein in PROSITE PS00086, CYTOCHROME_P450, 1 hit |
MobiDBi | Search... |
Entry informationi
Entry namei | C27C1_HUMAN | |
Accessioni | Q4G0S4Primary (citable) accession number: Q4G0S4 Secondary accession number(s): A0A590UJ17, Q6ZNI7 | |
Entry historyi | Integrated into UniProtKB/Swiss-Prot: | July 10, 2007 |
Last sequence update: | February 10, 2021 | |
Last modified: | February 23, 2022 | |
This is version 124 of the entry and version 3 of the sequence. See complete history. | ||
Entry statusi | Reviewed (UniProtKB/Swiss-Prot) | |
Annotation program | Chordata Protein Annotation Program | |
Disclaimer | Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care. |
Miscellaneousi
Keywords - Technical termi
Direct protein sequencing, Reference proteomeDocuments
- Human chromosome 2
Human chromosome 2: entries, gene names and cross-references to MIM - Human entries with genetic variants
List of human entries with genetic variants - Human variants curated from literature reports
Index of human variants curated from literature reports - PATHWAY comments
Index of metabolic and biosynthesis pathways - SIMILARITY comments
Index of protein domains and families - Protein Spotlight
Protein Spotlight articles and cited UniProtKB/Swiss-Prot entries