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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. This enzyme is a hydroxylase that metabolizes arachidonic acid, docosahexaenoic acid, and other long chain fatty acids. [provided by RefSeq, Ju... See more...
Aliases for CYP2U1 Gene
Aliases for CYP2U1 Gene
External Ids for CYP2U1 Gene
- HGNC: 20582
- Entrez Gene: 113612
- Ensembl: ENSG00000155016
- OMIM: 610670
- UniProtKB: Q7Z449
Previous HGNC Symbols for CYP2U1 Gene
- SPG56
Previous GeneCards Identifiers for CYP2U1 Gene
- GC04P109309
- GC04P109210
- GC04P109072
- GC04P108852
- GC04P104584
Summaries for CYP2U1 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. This enzyme is a hydroxylase that metabolizes arachidonic acid, docosahexaenoic acid, and other long chain fatty acids. [provided by RefSeq, Jul 2008]
GeneCards Summary for CYP2U1 Gene
CYP2U1 (Cytochrome P450 Family 2 Subfamily U Member 1) is a Protein Coding gene. Diseases associated with CYP2U1 include Spastic Paraplegia 56, Autosomal Recessive and Paraplegia. Among its related pathways are Cytochrome P450 - arranged by substrate type and acetone degradation I (to methylglyoxal). 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 CYP2R1.
UniProtKB/Swiss-Prot Summary for CYP2U1 Gene
-
A cytochrome P450 monooxygenase involved in the metabolism of arachidonic acid and its conjugates (PubMed:14660610, PubMed:24563460). Mechanistically, uses molecular oxygen inserting one oxygen atom into a substrate, and reducing the second into a water molecule, with two electrons provided by NADPH via cytochrome P450 reductase (CPR; NADPH-ferrihemoprotein reductase) (PubMed:14660610, PubMed:24563460). Acts as an omega and omega-1 hydroxylase for arachidonic acid and possibly for other long chain fatty acids. May modulate the arachidonic acid signaling pathway and play a role in other fatty acid signaling processes (PubMed:14660610, PubMed:24563460). May downregulate the biological activities of N-arachidonoyl-serotonin, an endocannabinoid that has anti-nociceptive effects through inhibition of fatty acid amide hydrolase FAAH, TRPV1 receptor and T-type calcium channels. Catalyzes C-2 oxidation of the indole ring of N-arachidonoyl-serotonin forming a less active product 2-oxo-N-arachidonoyl-serotonin (PubMed:24563460).
Additional gene information for CYP2U1 Gene
- HGNC(20582)
- Entrez Gene(113612)
- Ensembl(ENSG00000155016)
- OMIM(610670)
- UniProtKB(Q7Z449)
- Open Targets Platform(ENSG00000155016)
- Monarch Initiative
- Search for CYP2U1 at DataMed
- Search for CYP2U1 at HumanCyc
No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for CYP2U1 Gene
Genomics for CYP2U1 Gene
GeneHancer (GH) Regulatory Elements Pubs
Promoters and enhancers for CYP2U1 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association
Download GeneHancer data from 2017 publication |
Request up-to-date GeneHancer data (full dataset)
GeneHancers around CYP2U1 on the GeneHancer Hub at the UCSC Golden Path
Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for CYP2U1
- Top Transcription factor binding sites by QIAGEN in the CYP2U1 gene promoter:
-
- AML1a
- AP-4
- AREB6
- GATA-1
- HNF-3beta
- HSF2
- POU2F1
- POU2F1a
- POU6F1 (c2)
- YY1
Genomic Locations for CYP2U1 Gene
Genomic Locations for CYP2U1 Gene
- chr4:107,931,549-107,953,461
- (GRCh38/hg38)
- Size:
- 21,913 bases
- Orientation:
- Plus strand
- chr4:108,852,525-108,874,613
- (GRCh37/hg19)
- Size:
- 22,089 bases
- Orientation:
- Plus strand
Genomic View for CYP2U1 Gene
Genes around CYP2U1 on UCSC Golden Path with GeneCards custom track
- Cytogenetic band:
-
- 4q25 by HGNC
- 4q25 by Entrez Gene
- 4q25 by Ensembl
CYP2U1 Gene in genomic location: bands according to
Ensembl, locations according to GeneLoc
(and/or Entrez Gene and/or Ensembl if different)
Genomic Neighborhood
• Exon Structure
• Gene Density
RefSeq DNA sequence for CYP2U1 Gene
Proteins for CYP2U1 Gene
-
Protein details for CYP2U1 Gene (UniProtKB/Swiss-Prot)
- Protein Symbol:
- Q7Z449-CP2U1_HUMAN
- Recommended name:
- Cytochrome P450 2U1
- Protein Accession:
- Q7Z449
- B2RMV7
- Q96EQ6
Protein attributes for CYP2U1 Gene
- Size:
- 544 amino acids
- Molecular mass:
- 61987 Da
- Cofactor:
- Name=heme; Xref=ChEBI:CHEBI:30413;
- Quaternary structure:
- No Data Available
Protein Expression for CYP2U1 Gene
Selected DME Specific Peptides for CYP2U1 Gene
- Q7Z449:
-
- NPQDFIDMYLLH
- RAPSLTDKAQMPYTEATIMEVQRL
- VSNIICS
- EEIERVIG
Post-translational modifications for CYP2U1 Gene
Other Protein References for CYP2U1 Gene
- ENSEMBL proteins:
- REFSEQ proteins:
Antibody Products
- NSJ Bioreagents CYP2U1 Antibody
- Novus Biologicals Antibodies for CYP2U1
-
Abcam antibodies for CYP2U1
- Invitrogen Antibodies for CYP2U1 (AFLGC-CYP2U1)
-
Santa Cruz Biotechnology (SCBT) Antibodies for CYP2U1
Protein Products
- Search Origene for Purified Proteins, MassSpec and Protein Over-expression Lysates for CYP2U1
- Origene Custom Protein Services for CYP2U1
- antibodies-online: Show 3 available CYP2U1 Proteins ranked by validation data
- Compare Top CYP2U1 Proteins
-
Quality Products:
-
Abcam proteins for CYP2U1
Assay Products
- antibodies-online: Show 2 available CYP2U1 Elisa Kits ranked by validation data
- Compare Top CYP2U1 Elisa Kits
-
Quality Products:
-
Boster Bio ELISA Kits for CYP2U1
-
Signalway ELISA kits for CYP2U1
Domains & Families for CYP2U1 Gene
Gene Families for CYP2U1 Gene
- HGNC:
- IUPHAR :
- Human Protein Atlas (HPA):
-
- Disease related genes
- Enzymes
- Potential drug targets
- Predicted membrane proteins
Protein Domains for CYP2U1 Gene
- InterPro:
- Blocks:
-
- CYP2D P450 family signature
- ProtoNet:
Suggested Antigen Peptide Sequences for CYP2U1 Gene
- GenScript: Design optimal peptide antigens:
-
- Cytochrome P450 2U1 (CP2U1_HUMAN)
Graphical View of Domain Structure for InterPro Entry
Q7Z449- Family:
-
- Belongs to the cytochrome P450 family.
Function for CYP2U1 Gene
Molecular function for CYP2U1 Gene
- UniProtKB/Swiss-Prot Function:
- A cytochrome P450 monooxygenase involved in the metabolism of arachidonic acid and its conjugates (PubMed:14660610, PubMed:24563460). Mechanistically, uses molecular oxygen inserting one oxygen atom into a substrate, and reducing the second into a water molecule, with two electrons provided by NADPH via cytochrome P450 reductase (CPR; NADPH-ferrihemoprotein reductase) (PubMed:14660610, PubMed:24563460). Acts as an omega and omega-1 hydroxylase for arachidonic acid and possibly for other long chain fatty acids. May modulate the arachidonic acid signaling pathway and play a role in other fatty acid signaling processes (PubMed:14660610, PubMed:24563460). May downregulate the biological activities of N-arachidonoyl-serotonin, an endocannabinoid that has anti-nociceptive effects through inhibition of fatty acid amide hydrolase FAAH, TRPV1 receptor and T-type calcium channels. Catalyzes C-2 oxidation of the indole ring of N-arachidonoyl-serotonin forming a less active product 2-oxo-N-arachidonoyl-serotonin (PubMed:24563460).
- UniProtKB/Swiss-Prot CatalyticActivity:
- Reaction=an omega-methyl-long-chain fatty acid + O2 + reduced [NADPH--hemoprotein reductase] = an omega-hydroxy-long-chain fatty acid + H(+) + H2O + oxidized [NADPH--hemoprotein reductase]; Xref=Rhea:RHEA:56748, Rhea:RHEA-COMP:11964, Rhea:RHEA-COMP:11965, ChEBI:CHEBI:15377, ChEBI:CHEBI:15378, ChEBI:CHEBI:15379, ChEBI:CHEBI:57618, ChEBI:CHEBI:58210, ChEBI:CHEBI:140991, ChEBI:CHEBI:140992; EC=1.14.14.80; Evidence={ECO:0000269|PubMed:14660610, ECO:0000269|PubMed:24563460};.
- UniProtKB/Swiss-Prot CatalyticActivity:
- Reaction=(5Z,8Z,11Z,14Z)-eicosatetraenoate + O2 + reduced [NADPH--hemoprotein reductase] = 19-hydroxy-(5Z,8Z,11Z,14Z)-eicosatetraenoate + H(+) + H2O + oxidized [NADPH--hemoprotein reductase]; Xref=Rhea:RHEA:39759, Rhea:RHEA-COMP:11964, Rhea:RHEA-COMP:11965, ChEBI:CHEBI:15377, ChEBI:CHEBI:15378, ChEBI:CHEBI:15379, ChEBI:CHEBI:32395, ChEBI:CHEBI:57618, ChEBI:CHEBI:58210, ChEBI:CHEBI:76627; Evidence={ECO:0000269|PubMed:14660610, ECO:0000269|PubMed:24563460};.
- UniProtKB/Swiss-Prot CatalyticActivity:
- Reaction=(5Z,8Z,11Z,14Z)-eicosatetraenoate + O2 + reduced [NADPH--hemoprotein reductase] = 20-hydroxy-(5Z,8Z,11Z,14Z)-eicosatetraenoate + H(+) + H2O + oxidized [NADPH--hemoprotein reductase]; Xref=Rhea:RHEA:39755, Rhea:RHEA-COMP:11964, Rhea:RHEA-COMP:11965, ChEBI:CHEBI:15377, ChEBI:CHEBI:15378, ChEBI:CHEBI:15379, ChEBI:CHEBI:32395, ChEBI:CHEBI:57618, ChEBI:CHEBI:58210, ChEBI:CHEBI:76624; Evidence={ECO:0000269|PubMed:14660610, ECO:0000269|PubMed:24563460};.
- UniProtKB/Swiss-Prot CatalyticActivity:
- Reaction=N-[(5Z,8Z,11Z,14Z)-eicosatetraenoyl]-serotonin + O2 + reduced [NADPH--hemoprotein reductase] = 2-oxo-N-[(5Z,8Z,11Z,14Z)-eicosatetraenoyl]-serotonin + H(+) + H2O + oxidized [NADPH--hemoprotein reductase]; Xref=Rhea:RHEA:50296, Rhea:RHEA-COMP:11964, Rhea:RHEA-COMP:11965, ChEBI:CHEBI:15377, ChEBI:CHEBI:15378, ChEBI:CHEBI:15379, ChEBI:CHEBI:57618, ChEBI:CHEBI:58210, ChEBI:CHEBI:132255, ChEBI:CHEBI:132256; Evidence={ECO:0000269|PubMed:24563460};.
- UniProtKB/Swiss-Prot BiophysicochemicalProperties:
- Kinetic parameters: KM=2.7 uM for arachidonic acid; KM=82 uM for N-arachidonoylserotonin {ECO:0000269|PubMed:24563460};
Enzyme Numbers (IUBMB) for CYP2U1 Gene
Phenotypes From GWAS Catalog for CYP2U1 Gene
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0004497 | monooxygenase activity | IEA,TAS | -- |
| GO:0005506 | iron ion binding | IEA | -- |
| GO:0008395 | steroid hydroxylase activity | IBA | 21873635 |
| GO:0016491 | oxidoreductase activity | IEA | -- |
| GO:0016705 | oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen | IEA | -- |
Phenotypes for CYP2U1 Gene
- MGI mutant phenotypes for CYP2U1:
- inferred from 1 alleles
- GenomeRNAi human phenotypes for CYP2U1:
Animal Models for CYP2U1 Gene
- MGI Knock Outs for CYP2U1:
-
- Cyp2u1 Cyp2u1<tm1b(EUCOMM)Wtsi>
Animal Model Products
- Taconic Biosciences: Generate A Custom CRISPR Mouse Model For Your Study
CRISPR Products
- Applied Biological Materials (abm): CRISPR Clones for CYP2U1 - Select products 50% OFF >
- * CYP2U1 CRISPR as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
-
OriGene CRISPR knockouts for CYP2U1
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for CYP2U1
-
Santa Cruz Biotechnology (SCBT) CRISPR for CYP2U1
miRNA for CYP2U1 Gene
- miRTarBase miRNAs that target CYP2U1
-
- hsa-miR-375 (MIRT019811)
- hsa-miR-155-5p (MIRT020782)
- hsa-miR-124-3p (MIRT022645)
- hsa-miR-19b-3p (MIRT031184)
- hsa-miR-19a-3p (MIRT092954)
- hsa-miR-497-3p (MIRT092955)
- hsa-miR-1468-3p (MIRT092957)
- hsa-miR-548f-5p (MIRT092958)
- hsa-miR-548g-5p (MIRT092959)
- hsa-miR-548x-5p (MIRT092960)
- hsa-miR-548aj-5p (MIRT092962)
- hsa-miR-548aw (MIRT092964)
- hsa-miR-192-3p (MIRT211016)
- hsa-miR-4711-3p (MIRT558493)
- hsa-miR-3662 (MIRT567867)
- hsa-miR-510-3p (MIRT647209)
- hsa-miR-7152-5p (MIRT647210)
- hsa-miR-3074-5p (MIRT647211)
- hsa-miR-488-3p (MIRT647212)
- hsa-miR-1200 (MIRT647213)
- hsa-miR-378a-5p (MIRT647214)
- hsa-miR-3124-3p (MIRT647215)
- hsa-miR-501-5p (MIRT647216)
- hsa-miR-500a-5p (MIRT647217)
miRNA Products
Inhibitory RNA Products
- Origene shrna, sirna, and RNAi products in human, mouse, rat for CYP2U1
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Clone Products
- Applied Biological Materials (abm): Clones for CYP2U1 - Select products 50% OFF >
- * CYP2U1 as ready-to-use vector or virus: ORF | Lenti- | Retro- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
- Sino Biological Human cDNA Clone for CYP2U1
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for CYP2U1
Cell Line Products
-
Horizon Cell Lines for CYP2U1
No data available for Transcription Factor Targets and HOMER Transcription for CYP2U1 Gene
Localization for CYP2U1 Gene
Subcellular locations from UniProtKB/Swiss-Prot for CYP2U1 Gene
- Endoplasmic reticulum membrane. Multi-pass membrane protein. Microsome membrane. Multi-pass membrane protein. Mitochondrion inner membrane. Multi-pass membrane protein.
| Compartment | Confidence |
|---|---|
| mitochondrion | 4 |
| endoplasmic reticulum | 4 |
| plasma membrane | 3 |
| extracellular | 1 |
| cytoskeleton | 1 |
| peroxisome | 1 |
| nucleus | 1 |
| endosome | 1 |
| cytosol | 1 |
| lysosome | 1 |
- Golgi apparatus (2)
- Vesicles (2)
- Nucleoplasm (1)
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0005737 | cytoplasm | IBA | 21873635 |
| GO:0005739 | mitochondrion | IEA | -- |
| GO:0005743 | mitochondrial inner membrane | IEA | -- |
| GO:0005783 | endoplasmic reticulum | IEA | -- |
| GO:0005789 | endoplasmic reticulum membrane | TAS | -- |
Pathways & Interactions for CYP2U1 Gene
| SuperPathway | Contained pathways | ||
|---|---|---|---|
| 1 | Cytochrome P450 - arranged by substrate type | ||
| 2 | Metabolism |
.40
|
|
| 3 | superpathway of tryptophan utilization | ||
| 4 | Arachidonic acid metabolism | ||
| 5 | nicotine degradation IV | ||
Pathways by source for CYP2U1 Gene
9 BioSystems pathways for CYP2U1 Gene
8 Reactome pathways for CYP2U1 Gene
2 KEGG pathways for CYP2U1 Gene
UniProtKB/Swiss-Prot Q7Z449-CP2U1_HUMAN
- Pathway: Lipid metabolism; arachidonate metabolism.
Interacting Proteins for CYP2U1 Gene
GPS-Prot Interaction Network for CYP2U1
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0006082 | organic acid metabolic process | IBA | 21873635 |
| GO:0006805 | xenobiotic metabolic process | IBA | 21873635 |
| GO:0019369 | arachidonic acid metabolic process | IEA | -- |
| GO:0042738 | exogenous drug catabolic process | IBA | 21873635 |
| GO:0055114 | oxidation-reduction process | IEA,IBA | 21873635 |
No data available for SIGNOR curated interactions for CYP2U1 Gene
Transcripts for CYP2U1 Gene
mRNA/cDNA for CYP2U1 Gene
- 1 REFSEQ mRNAs :
- 14 NCBI additional mRNA sequence :
- 3 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :
-
- ENST00000332884 4768 nts (view in UCSC)
- ENST00000513302 1562 nts (view in UCSC)
- ENST00000508453 3125 nts (view in UCSC)
CRISPR Products
- Applied Biological Materials (abm): CRISPR Clones for CYP2U1 - Select products 50% OFF >
- * CYP2U1 CRISPR as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
-
OriGene CRISPR knockouts for CYP2U1
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for CYP2U1
-
Santa Cruz Biotechnology (SCBT) CRISPR for CYP2U1
miRNA Products
Inhibitory RNA Products
- Origene shrna, sirna, and RNAi products in human, mouse, rat for CYP2U1
- Browse OriGene Inhibitory RNA Products For CYP2U1
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for CYP2U1
Clone Products
- Applied Biological Materials (abm): Clones for CYP2U1 - Select products 50% OFF >
- * CYP2U1 as ready-to-use vector or virus: ORF | Lenti- | Retro- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
- Sino Biological Human cDNA Clone for CYP2U1
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for CYP2U1
Relevant External Links for CYP2U1 Gene
- GeneLoc Exon Structure for
- CYP2U1
Expression for CYP2U1 Gene
mRNA expression in embryonic tissues and stem cells from LifeMap Discovery
-
Thymus (Hematopoietic System)
- Double Positive Thymocytes Thymus
-
Blood (Cardiovascular System)
- Double Positive Thymocytes Thymus
This gene is overexpressed in Urinary Bladder (52.9) and Gallbladder (12.1).
Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for CYP2U1 Gene
Transcriptomic regulation report from SPP (The Signaling Pathways Project) for CYP2U1
SOURCE GeneReport for Unigene cluster for CYP2U1 Gene:
Hs.109087mRNA Expression by UniProt/SwissProt for CYP2U1 Gene:
Q7Z449-CP2U1_HUMAN
Tissue specificity:
Widely expressed with stronger expression in thymus, heart and cerebellum.
Evidence on tissue expression from TISSUES for CYP2U1 Gene
- Nervous system(4.6)
- Liver(2)
Phenotype-based relationships between genes and organs from Gene ORGANizer for CYP2U1 Gene
Germ Layers:
- ectoderm
- mesoderm
Systems:
- nervous
- skeletal muscle
- skeleton
Regions:
Head and neck:
- brain
- cerebellum
- head
Limb:
- digit
- foot
- lower limb
- toe
General:
- peripheral nerve
- peripheral nervous system
Primer Products
-
OriGene qPCR primer pairs for CYP2U1
Gene Expression Assay Products
No data available for mRNA differential expression in normal tissues and Protein tissue co-expression partners for CYP2U1 Gene
Orthologs for CYP2U1 Gene
This gene was present in the common ancestor of eukaryotes.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| Chimpanzee (Pan troglodytes) |
Mammalia | CYP2U1 31 |
|
OneToOne | |
| LOC471267 30 |
|
||||
| Dog (Canis familiaris) |
Mammalia | CYP2U1 30 31 |
|
OneToOne | |
| Cow (Bos Taurus) |
Mammalia | CYP2U1 30 31 |
|
OneToOne | |
| Rat (Rattus norvegicus) |
Mammalia | Cyp2u1 30 |
|
||
| Mouse (Mus musculus) |
Mammalia | Cyp2u1 30 17 31 |
|
OneToOne | |
| Platypus (Ornithorhynchus anatinus) |
Mammalia | CYP2U1 31 |
|
OneToOne | |
| Oppossum (Monodelphis domestica) |
Mammalia | CYP2U1 31 |
|
OneToOne | |
| Chicken (Gallus gallus) |
Aves | LOC422528 30 |
|
||
| CYP2U1 31 |
|
OneToOne | |||
| Lizard (Anolis carolinensis) |
Reptilia | CYP2U1 31 |
|
OneToOne | |
| Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | cyp2u1 30 |
|
||
| Zebrafish (Danio rerio) |
Actinopterygii | cyp2u1 30 31 |
|
OneToOne | |
| Fruit Fly (Drosophila melanogaster) |
Insecta | Cyp18a1 30 |
|
||
| Thale Cress (Arabidopsis thaliana) |
eudicotyledons | AT5G04330 30 |
|
- Species where no ortholog for CYP2U1 was found in the sources mined by GeneCards:
-
- A. gosspyii yeast (Eremothecium gossypii)
- Actinobacteria (Mycobacterium tuberculosis)
- African clawed frog (Xenopus laevis)
- 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)
- Orangutan (Pongo pygmaeus)
- Pig (Sus scrofa)
- Rainbow Trout (Oncorhynchus mykiss)
- Rice (Oryza sativa)
- Rice Blast Fungus (Magnaporthe grisea)
- Schistosome Parasite (Schistosoma mansoni)
- Sea Anemone (Nematostella vectensis)
- Sea Vase (Ciona intestinalis)
- Sea Squirt (Ciona savignyi)
- Sea Urchin (Strongylocentrotus purpuratus)
- Sorghum (Sorghum bicolor)
- Soybean (Glycine max)
- Stem Rust Fungus (Puccinia graminis)
- Sugarcane (Saccharum officinarum)
- Tomato (Lycopersicon esculentum)
- Toxoplasmosis (Toxoplasma gondii)
- Trichoplax (Trichoplax adhaerens)
- Wheat (Triticum aestivum)
- Worm (Caenorhabditis elegans)
Evolution for CYP2U1 Gene
- ENSEMBL:
- Gene Tree for CYP2U1 (if available)
- TreeFam:
- Gene Tree for CYP2U1 (if available)
- Aminode:
- Evolutionary constrained regions (ECRs) for CYP2U1: view image
Paralogs for CYP2U1 Gene
Paralogs for CYP2U1 Gene
(32) SIMAP similar genes for CYP2U1 Gene using alignment to 2 proteins:
- CP2U1_HUMAN
- E9PGH5_HUMAN
Variants for CYP2U1 Gene
Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for CYP2U1 Gene
| SNP ID | Clinical significance and condition | Chr 04 pos | Variation | AA Info | Type |
|---|---|---|---|---|---|
| 641459 | Uncertain Significance: Spastic paraplegia | 107,949,458(+) | G/A | MISSENSE_VARIANT | |
| 649554 | Uncertain Significance: Spastic paraplegia | 107,950,373(+) | G/T | MISSENSE_VARIANT | |
| 653598 | Uncertain Significance: Spastic paraplegia | 107,944,996(+) | G/A | MISSENSE_VARIANT | |
| 654685 | Uncertain Significance: Spastic paraplegia | 107,945,483(+) | G/C | MISSENSE_VARIANT | |
| 654977 | Uncertain Significance: Spastic paraplegia | 107,945,369(+) | T/C | MISSENSE_VARIANT |
Residual Variation Intolerance Score:
47.1% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score:
1.46;
28.55% of all genes are more intolerant (likely to be disease-causing)
Additional Variant Information for CYP2U1 Gene
SNP Genotyping and Copy Number Assay Products
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for CYP2U1 Gene
Disorders for CYP2U1 Gene
(20) MalaCards diseases for CYP2U1 Gene - From: UniProtKB/Swiss-Prot, OMIM, ClinVar, GTR, Orphanet, DISEASES, and GeneCards
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| spastic paraplegia 56, autosomal recessive |
|
|
| paraplegia |
|
|
| spastic paraplegia 28, autosomal recessive |
|
|
| hereditary spastic paraplegia |
|
|
| spastic paraplegia 46, autosomal recessive |
|
|
Search CYP2U1 in MalaCards
View complete list of genes associated with diseases
UniProtKB/Swiss-Prot
CP2U1_HUMAN- Spastic paraplegia 56, autosomal recessive (SPG56) [MIM:615030]: A form of spastic paraplegia, a neurodegenerative disorder characterized by a slow, gradual, progressive weakness and spasticity of the lower limbs. Rate of progression and the severity of symptoms are quite variable. Initial symptoms may include difficulty with balance, weakness and stiffness in the legs, muscle spasms, and dragging the toes when walking. Complicated forms are recognized by additional variable features including spastic quadriparesis, seizures, dementia, amyotrophy, extrapyramidal disturbance, cerebral or cerebellar atrophy, optic atrophy, and peripheral neuropathy, as well as by extra neurological manifestations. In SPG56, upper limbs are often also affected. Some SPG56 patients may have a subclinical axonal neuropathy. {ECO:0000269 PubMed:23176821}. Note=The disease is caused by mutations affecting the gene represented in this entry.
Additional Disease Information for CYP2U1
- Genetic Association Database
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No data available for Genatlas for CYP2U1 Gene
Publications for CYP2U1 Gene
- CYP2U1, a novel human thymus- and brain-specific cytochrome P450, catalyzes omega- and (omega-1)-hydroxylation of fatty acids. (PMID: 14660610) Chuang SS … Korczak B (The Journal of biological chemistry 2004) 2 3 4 23
- Characterization and tissue distribution of a novel human cytochrome P450-CYP2U1. (PMID: 14975754) Karlgren M … Ingelman-Sundberg M (Biochemical and biophysical research communications 2004) 2 3 4
- Oxidation of endogenous N-arachidonoylserotonin by human cytochrome P450 2U1. (PMID: 24563460) Siller M … Guengerich FP (The Journal of biological chemistry 2014) 3 4
- Mutations in CYP2U1, DDHD2 and GBA2 genes are rare causes of complicated forms of hereditary spastic paraparesis. (PMID: 24337409) Citterio A … Bassi MT (Journal of neurology 2014) 2 3
- A systematic gene-based screen of chr4q22-q32 identifies association of a novel susceptibility gene, DKK2, with the quantitative trait of alcohol dependence symptom counts. (PMID: 20332099) Kalsi G … Riley BP (Human molecular genetics 2010) 3 41
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