Free for academic non-profit institutions. Other users need a Commercial license
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
- NCBI Entrez Gene: 113612
- Ensembl: ENSG00000155016
- OMIM®: 610670
- UniProtKB/Swiss-Prot: 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 Seizure Disorder. Among its related pathways are acetone degradation I (to methylglyoxal) and Arachidonic acid metabolism. 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 CYP2D6.
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)
- NCBI Entrez Gene (113612)
- Ensembl (ENSG00000155016)
- OMIM® (610670)
- UniProtKB/Swiss-Prot (Q7Z449)
- Open Targets Platform(ENSG00000155016)
- Monarch Initiative
- Alliance of Genome Resources
- 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
Latest Assembly
- chr4:107,931,549-107,953,461
- (GRCh38/hg38)
- Size:
- 21,913 bases
- Orientation:
- Plus strand
Previous Assembly
- chr4:108,852,705-108,874,617
- (GRCh37/hg19 by Entrez Gene)
- Size:
- 21,913 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:
Antibodies for research
- LifeSpan BioSciences CYP2U1 Antibody
- 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 for research
- 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 for research
- 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
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
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 Models for research
- Taconic Biosciences: Generate A Custom CRISPR Mouse Model For Your Study
CRISPR products for research
- Applied Biological Materials (abm): CRISPR Clones for CYP2U1 - Starting at $85 >
- * CYP2U1 CRISPR as ready-to-use vector or virus: Non-viral | Lenti- | Adeno- | AAV- | siRNA - Browse All
- * Cas9 Nucleases, Nickases, Null Mutants, and GFP tag also available.
-
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 for research
Inhibitory RNAs for research
- 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 for research
- Applied Biological Materials (abm): Clones for CYP2U1 - Starting at $45 >
- * CYP2U1 as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Retro- | Protein Vector - Browse All
- * Viral Packaging Services and High Titer Production Services also available.
- Sino Biological Human cDNA Clone for CYP2U1
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for CYP2U1
Cell Lines for research
-
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 |
| plasma membrane | 3 |
| endoplasmic reticulum | 2 |
| extracellular | 1 |
| cytoskeleton | 1 |
| peroxisome | 1 |
| nucleus | 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
3 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 | -- |
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)
- ENST00000508453 3125 nts (view in UCSC)
- ENST00000513302 1562 nts (view in UCSC)
CRISPR products for research
- Applied Biological Materials (abm): CRISPR Clones for CYP2U1 - Starting at $85 >
- * CYP2U1 CRISPR as ready-to-use vector or virus: Non-viral | Lenti- | Adeno- | AAV- | siRNA - Browse All
- * Cas9 Nucleases, Nickases, Null Mutants, and GFP tag also available.
-
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 for research
Inhibitory RNAs for research
- 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 for research
- Applied Biological Materials (abm): Clones for CYP2U1 - Starting at $45 >
- * CYP2U1 as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Retro- | Protein Vector - Browse All
- * Viral Packaging Services and High Titer Production Services also available.
- 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)
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 for research
-
OriGene qPCR primer pairs for CYP2U1
Gene Expression Assays for research
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 30 |
|
OneToOne | |
| LOC471267 29 |
|
||||
| Dog (Canis familiaris) |
Mammalia | CYP2U1 29 30 |
|
OneToOne | |
| Cow (Bos Taurus) |
Mammalia | CYP2U1 29 30 |
|
OneToOne | |
| Rat (Rattus norvegicus) |
Mammalia | Cyp2u1 29 |
|
||
| Mouse (Mus musculus) |
Mammalia | Cyp2u1 29 16 30 |
|
OneToOne | |
| Platypus (Ornithorhynchus anatinus) |
Mammalia | CYP2U1 30 |
|
OneToOne | |
| Oppossum (Monodelphis domestica) |
Mammalia | CYP2U1 30 |
|
OneToOne | |
| Chicken (Gallus gallus) |
Aves | LOC422528 29 |
|
||
| CYP2U1 30 |
|
OneToOne | |||
| Lizard (Anolis carolinensis) |
Reptilia | CYP2U1 30 |
|
OneToOne | |
| Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | cyp2u1 29 |
|
||
| Zebrafish (Danio rerio) |
Actinopterygii | cyp2u1 29 30 |
|
OneToOne | |
| Fruit Fly (Drosophila melanogaster) |
Insecta | Cyp18a1 29 |
|
||
| Thale Cress (Arabidopsis thaliana) |
eudicotyledons | AT5G04330 29 |
|
- 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
- Alliance of Genome Resources:
- Additional Orthologs for CYP2U1
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 |
|---|---|---|---|---|---|
| 1002287 | Uncertain Significance: Spastic paraplegia | 107,945,429(+) |
T/A NM_183075.3(CYP2U1):c.950T>A (p.Phe317Tyr) |
MISSENSE | |
| 1006164 | Uncertain Significance: Spastic paraplegia | 107,931,878(+) |
C/G NM_183075.3(CYP2U1):c.235C>G (p.Pro79Ala) |
MISSENSE | |
| 1026736 | Uncertain Significance: Spastic paraplegia | 107,932,068(+) |
A/T NM_183075.3(CYP2U1):c.425A>T (p.Gln142Leu) |
MISSENSE_VARIANT,NON_CODING_TRANSCRIPT | |
| 1037864 | Uncertain Significance: Spastic paraplegia | 107,931,770(+) |
G/C NM_183075.3(CYP2U1):c.127G>C (p.Val43Leu) |
MISSENSE | |
| 1040765 | Uncertain Significance: Spastic paraplegia | 107,931,849(+) |
T/C NM_183075.3(CYP2U1):c.206T>C (p.Val69Ala) |
MISSENSE |
All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).
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 Assays for research
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for CYP2U1 Gene
Disorders for CYP2U1 Gene
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| spastic paraplegia 56, autosomal recessive |
|
|
| seizure disorder |
|
|
| alacrima, achalasia, and mental retardation syndrome |
|
|
| disease of mental health |
|
|
| congenital disorder of glycosylation, type ip |
|
|
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 variants affecting the gene represented in this entry.
Additional Disease Information for CYP2U1
- Human Genome Epidemiology Navigator
- (HuGE)
- Atlas
- ATLAS of Genetics and Cytogenetics in Oncology and Haematology
- Open Targets Platform
- Open Targets Platform
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 22
- 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
- Alteration of fatty-acid-metabolizing enzymes affects mitochondrial form and function in hereditary spastic paraplegia. (PMID: 23176821) Tesson C … Stevanin G (American journal of human genetics 2012) 4 72
Products for CYP2U1 Gene
- Custom Antibody Services
- Browse OriGene ELISA Kits
- Custom Assay Services
- Search Origene for Purified Proteins, MassSpec and Protein Over-expression Lysates for CYP2U1
- Origene Custom Protein Services for CYP2U1
- Origene shrna, sirna, and RNAi products in human, mouse, rat for CYP2U1
- Browse OriGene Inhibitory RNA Products For CYP2U1
- OriGene qPCR primer pairs for CYP2U1
- OriGene CRISPR knockouts for CYP2U1
- Custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
- Browse OriGene miRNA Products For CYP2U1
- Sino Biological Human cDNA Clone for CYP2U1
- Browse Sino Biological Recombinant Proteins
- Browse Sino Biological Cell Lysates
- Browse Sino Biological Antibodies
- Browse Sino Biological Assays
- Browse cDNA Clones
- Browse ELISA Kits
- Browse CRO Services
- High-throughput Antibody Production Service
- Protein Production Service
- Epitope Tag Antibodies & Reporter Protein Antibodies
- Lentiviral ORF Clones
- Novus Biologicals Antibodies for CYP2U1
- Novus Biologicals proteins and lysates for CYP2U1
- Browse Antibodies
- Browse Peptides and Proteins
- Browse Lysates
- Browse ELISA Kits
- Abcam antibodies for CYP2U1
- Abcam proteins for CYP2U1
- Find your target
- Browse Primary Antibodies
- Browse Conjugated Primary Antibodies
- Browse Secondary Antibodies
- Browse ELISA Kits
- Browse Matched Antibody Pairs
- Browse Proteins and Peptides
- Search Knockout (KO) Validated Antibodies
- Browse Monoclonal Antibodies
- Browse Recombinant Antibodies
- Invitrogen Antibodies for CYP2U1 (AFLGC-CYP2U1)
- VectorBuilder Custom and pre-made DNA vectors for CYP2U1 (ie. gene expression, shRNA knockdown, CRISPR)
- VectorBuilder Viral vectors for CYP2U1 (ie. lentivirus, AAV, adenovirus)
- VectorBuilder CRISPR vectors for CYP2U1 (ie. knockout, knockin, CRISPRa, CRISPRi)
- VectorBuilder Virus packaging for CYP2U1 CRISPR vectors (ie. lentivirus, AAV, adenovirus)
- VectorBuilder Stable cell line generation for CYP2U1
- antibodies-online: Show 8 available CYP2U1 Antibodies ranked by validation data
- Compare Top CYP2U1 Antibodies
- antibodies-online: Show 2 available CYP2U1 Elisa Kits ranked by validation data
- Compare Top CYP2U1 Elisa Kits
- Quality Products:
- antibodies-online: Show 3 available CYP2U1 Proteins ranked by validation data
- Compare Top CYP2U1 Proteins
- Quality Products:
- Santa Cruz Biotechnology (SCBT) Antibodies for CYP2U1
- Search Santa Cruz Biotechnology (SCBT) for CYP2U1 siRNA/shRNA
- Santa Cruz Biotechnology (SCBT) CRISPR for CYP2U1
- Horizon Cell Lines for CYP2U1
- Browse GeneCopoeia Cell Lines
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for CYP2U1
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for CYP2U1
- Search GeneCopoeia for miRNA 3'UTR Target clone products for CYP2U1
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for CYP2U1
Sources for CYP2U1 Gene
- (1) GeneCards
- (2) HGNC
- (3) NCBI Entrez Gene
- (4) UniProtKB/Swiss-Prot
- (5) Ensembl
- (6) OMIM® (Updated: 05-Apr-2021)
- (7) GeneLoc
- (8) Gene Wiki
- (9) UCSC
- (10) PhosphoSitePlus
- (11) Cell Signaling Technology
- (12) GO
- (13) UniProtKB/TrEMBL
- (14) InterPro
- (15) Blocks
- (16) MGI
- (17) IUBMB
- (18) KEGG
- (19) MINT
- (20) STRING
- (21) IntAct
- (22) Novoseek
- (23) PharmGKB
- (24) DrugBank
- (25) HMDB
- (26) ASD
- (27) SAGE
- (28) SOURCE
- (29) HomoloGene
- (30) PanEnsembl
- (31) euGenes
- (32) SGD
- (33) FlyBase
- (34) WormBase
- (35) Pseudogene
- (36) DGV
- (37) dbSNP
- (38) GenAtlas
- (39) HGMD
- (40) GAD
- (41) BGMUT
- (42) HuGE
- (43) Atlas
- (44) GenBank
- (45) HORDE
- (46) HUGE
- (47) IMGT
- (48) Leiden
- (49) miRBase
- (50) DME
- (51) OriGene
- (52) PubMed
- (53) R&D Systems
- (54) Tocris
- (55) Abcam
- (56) Novus Biologicals
- (57) ProSpec
- (58) Sino Biological
- (59) GenScript
- (60) Qiagen
- (61) OCA
- (62) Proteopedia
- (63) MOPED
- (64) neXtProt
- (65) Reactome
- (66) GeneGo (Thomson Reuters)
- (67) DISEASES
- (68) SIMAP
- (69) GenomeRNAi
- (70) LifeMap
- (71) miRTarBase
- (72) MalaCards
- (73) Invitrogen
- (74) BitterDB
- (75) ESI-BIO
- (76) RefSeq
- (77) BioSystems
- (78) MaxQB
- (79) IUPHAR
- (80) BioGPS
- (81) Illumina
- (82) COMPARTMENTS
- (83) HOMER
- (84) PaxDb
- (85) ApexBio
- (86) Addgene
- (87) antibodies-online
- (88) CYP
- (89) NONCODE
- (90) TreeFam
- (91) PathCards
- (92) GeneReviews
- (93) GeneTex
- (94) Taconic Biosciences
- (95) GTEx
- (96) ProteomicsDB
- (97) SCBT
- (98) DGIdb
- (99) ClinicalTrials
- (100) RVIS
- (101) SIGNOR
- (102) diseasecard
- (103) NIH Rare Diseases
- (104) Orphanet
- (105) UMLS
- (106) GTR
- (107) Disease Ontology
- (108) MedlinePlus Genetics
- (109) MeSH
- (110) MedlinePlus
- (111) CDC
- (112) NINDS
- (113) NCBI Bookshelf
- (114) ClinVar
- (115) Gene Damage Index
- (116) HPO
- (117) UDN
- (118) VISTA
- (119) FANTOM5
- (120) ENCODE
- (121) ProSci
- (122) Horizon
- (123) The Signaling Pathways Project (SPP)
- (124) IID
- (125) VectorBuilder
- (126) SNPedia
- (127) BRCA Exchange
- (128) CIViC
- (129) ProteoGenix
- (130) dbSUPER
- (131) TISSUES
- (132) Gene ORGANizer
- (133) abm
- (134) Human Protein Atlas
- (135) GWAS Catalog
- (136) Monarch Initiative
- (137) DataMed
- (138) HumanCyc
- (139) UCNEbase
- (140) EPDnew
- (141) Applied Biosystems
- (142) GlyConnect
- (143) Aminode
- (144) GeneCopoeia
- (145) GPS-Prot
- (146) RNAcentral
- (147) LncRNADisease
- (148) LOVD
- (149) miR2Disease
- (150) DiseaseEnhancer
- (151) Boster Bio
- (152) Biorbyt
- (153) Biocompare
- (154) Mastermind
- (155) CTD^2 Dashboard
- (156) CraniofacialAtlas
- (157) GeneImprint
- (158) Synthego
- (159) ENA
- (160) GtRNAdb
- (161) LncBase
- (162) LncBook
- (163) LNCipedia
- (164) Modomics
- (165) PDBe
- (166) Rfam
- (167) SILVA
- (168) snOPY
- (169) SRPDB
- (170) GENCODE
- (171) TarBase
- (172) Open Targets Platform
- (173) 5SRRNADB
- (174) snoDB
- (175) MirGeneDB
- (176) Alliance of Genome Resources