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Aliases for CYP2U1 Gene

Aliases for CYP2U1 Gene

  • Cytochrome P450 Family 2 Subfamily U Member 1 2 3 5
  • Cytochrome P450, Family 2, Subfamily U, Polypeptide 1 2 3
  • Spastic Paraplegia 49 2 3
  • EC 4 56
  • Cytochrome P450 2U1 3
  • P450TEC 3
  • SPG49 3
  • SPG56 3

External Ids for CYP2U1 Gene

Previous GeneCards Identifiers for CYP2U1 Gene

  • GC04P109309
  • GC04P109210
  • GC04P109072
  • GC04P108852
  • GC04P104584

Summaries for CYP2U1 Gene

Entrez Gene Summary 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 Spastic Paraplegia 46, Autosomal Recessive. Among its related pathways are superpathway of tryptophan utilization and Cytochrome P450 - arranged by substrate type. 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 for CYP2U1 Gene

  • Catalyzes the hydroxylation of arachidonic acid, docosahexaenoic acid and other long chain fatty acids. May modulate the arachidonic acid signaling pathway and play a role in other fatty acid signaling processes.

Gene Wiki entry for CYP2U1 Gene

Additional gene information for CYP2U1 Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for CYP2U1 Gene

Genomics for CYP2U1 Gene

GeneHancer (GH) Regulatory Elements for CYP2U1 Gene

Promoters and enhancers for CYP2U1 Gene
GeneHancer (GH) Identifier GH Type GH
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH04I107930 Promoter/Enhancer 1.9 EPDnew Ensembl ENCODE 569.7 +0.4 377 2.5 PKNOX1 ATF1 RB1 ARNT ARID4B RFX5 ZNF335 GLIS2 EGR1 ZNF366 CYP2U1 ENSG00000249604 LOC101929595
GH04I108164 Promoter/Enhancer 2.2 EPDnew Ensembl ENCODE dbSUPER 8.6 +235.5 235530 5.4 PKNOX1 FOXA2 ZNF2 ZNF280A ZNF121 GLIS2 KLF7 RUNX3 SP3 REST LEF1-AS1 LEF1 CYP2U1 HADH GC04P108129
GH04I107976 Enhancer 0.8 dbSUPER 22.8 +46.8 46759 4 SOX13 TFAP4 SAP130 ARID4B MAX CEBPG RAD21 ZNF7 YY1 TEAD3 LOC101929595 CYP2U1 HADH ENSG00000249604 GC04M107959
GH04I108830 Enhancer 0.8 ENCODE 22.1 +899.4 899411 0.2 ZSCAN26 ZBTB6 ZNF529 INSM2 MZF1 FEZF1 ZNF335 ZSCAN5C ZNF391 ZNF600 SEC24B-AS1 CYP2U1 RBMXP4 COL25A1 ZCCHC23 RRH ETNPPL GC04M108805 GC04M108908
GH04I108354 Enhancer 1.2 FANTOM5 Ensembl ENCODE dbSUPER 14.7 +424.6 424576 2.3 NFIC POLR2A SCRT2 CEBPB RCOR1 CHD2 CYP2U1 LEF1 ZACNP1 GC04P108177 PIR33250
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around CYP2U1 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the CYP2U1 gene promoter:

Genomic Locations for CYP2U1 Gene

Genomic Locations for CYP2U1 Gene
22,093 bases
Plus strand

Genomic View for CYP2U1 Gene

Genes around CYP2U1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
CYP2U1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for CYP2U1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for CYP2U1 Gene

Proteins for CYP2U1 Gene

  • Protein details for CYP2U1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Recommended name:
    Cytochrome P450 2U1
    Protein Accession:
    Secondary Accessions:
    • B2RMV7
    • Q96EQ6

    Protein attributes for CYP2U1 Gene

    544 amino acids
    Molecular mass:
    61987 Da
    Name=heme; Xref=ChEBI:CHEBI:30413;
    Quaternary structure:
    No Data Available

    Alternative splice isoforms for CYP2U1 Gene


neXtProt entry for CYP2U1 Gene

Selected DME Specific Peptides for CYP2U1 Gene


Post-translational modifications for CYP2U1 Gene

No Post-translational modifications

Other Protein References for CYP2U1 Gene

Domains & Families for CYP2U1 Gene

Gene Families for CYP2U1 Gene

Human Protein Atlas (HPA):
  • Disease related genes
  • Enzymes
  • Potential drug targets
  • Predicted membrane proteins

Suggested Antigen Peptide Sequences for CYP2U1 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry



  • Belongs to the cytochrome P450 family.
  • Belongs to the cytochrome P450 family.
genes like me logo Genes that share domains with CYP2U1: view

Function for CYP2U1 Gene

Molecular function for CYP2U1 Gene

UniProtKB/Swiss-Prot BiophysicochemicalProperties:
Kinetic parameters: KM=2.7 uM for arachidonic acid;
UniProtKB/Swiss-Prot CatalyticActivity:
RH + [reduced NADPH--hemoprotein reductase] + O(2) = ROH + [oxidized NADPH--hemoprotein reductase] + H(2)O.
UniProtKB/Swiss-Prot Function:
Catalyzes the hydroxylation of arachidonic acid, docosahexaenoic acid and other long chain fatty acids. May modulate the arachidonic acid signaling pathway and play a role in other fatty acid signaling processes.

Enzyme Numbers (IUBMB) for CYP2U1 Gene

Phenotypes From GWAS Catalog for CYP2U1 Gene

Gene Ontology (GO) - Molecular Function for CYP2U1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004497 monooxygenase activity TAS --
GO:0005506 iron ion binding IEA --
GO:0008395 steroid hydroxylase activity IBA --
GO:0016491 oxidoreductase activity IEA --
GO:0016705 oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen IEA --
genes like me logo Genes that share ontologies with CYP2U1: view
genes like me logo Genes that share phenotypes with CYP2U1: view

Human Phenotype Ontology for CYP2U1 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for CYP2U1 Gene

MGI Knock Outs for CYP2U1:

Animal Model Products

CRISPR Products

Inhibitory RNA Products

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.

Subcellular locations from

Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for CYP2U1 gene
Compartment Confidence
endoplasmic reticulum 5
plasma membrane 3
mitochondrion 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Golgi apparatus (2)
  • Vesicles (2)
  • Nucleoplasm (1)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for CYP2U1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005783 endoplasmic reticulum IEA --
GO:0005789 endoplasmic reticulum membrane TAS --
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
GO:0031090 organelle membrane IEA --
genes like me logo Genes that share ontologies with CYP2U1: view

Pathways & Interactions for CYP2U1 Gene

genes like me logo Genes that share pathways with CYP2U1: view

Gene Ontology (GO) - Biological Process for CYP2U1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0055114 oxidation-reduction process IEA --
GO:0097267 omega-hydroxylase P450 pathway TAS --
genes like me logo Genes that share ontologies with CYP2U1: view

No data available for SIGNOR curated interactions for CYP2U1 Gene

Drugs & Compounds for CYP2U1 Gene

(4) Drugs for CYP2U1 Gene - From: HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Docosahexaenoic acid Approved, Investigational Pharma Full agonist, Agonist 0
Oxygen Approved, Vet_approved Pharma 0
Water Approved Pharma 0
heme Pharma Agonist 0
genes like me logo Genes that share compounds with CYP2U1: view

Transcripts for CYP2U1 Gene

Unigene Clusters for CYP2U1 Gene

Cytochrome P450, family 2, subfamily U, polypeptide 1:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Alternative Splicing Database (ASD) splice patterns (SP) for CYP2U1 Gene

No ASD Table

Relevant External Links for CYP2U1 Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for CYP2U1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for CYP2U1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for CYP2U1 Gene

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, PaxDb, MaxQB, and MOPED for CYP2U1 Gene

Protein tissue co-expression partners for CYP2U1 Gene

NURSA nuclear receptor signaling pathways regulating expression of CYP2U1 Gene:


SOURCE GeneReport for Unigene cluster for CYP2U1 Gene:


mRNA Expression by UniProt/SwissProt for CYP2U1 Gene:

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
  • nervous
  • skeletal muscle
  • skeleton
Head and neck:
  • brain
  • cerebellum
  • head
  • digit
  • foot
  • lower limb
  • toe
  • peripheral nerve
  • peripheral nervous system
genes like me logo Genes that share expression patterns with CYP2U1: view

Primer Products

No data available for mRNA differential expression in normal tissues for CYP2U1 Gene

Orthologs for CYP2U1 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for CYP2U1 Gene

Organism Taxonomy Gene Similarity Type Details
(Pan troglodytes)
Mammalia CYP2U1 34
  • 100 (a)
LOC471267 33
  • 99.82 (n)
(Canis familiaris)
Mammalia CYP2U1 33 34
  • 89.06 (n)
(Bos Taurus)
Mammalia CYP2U1 33 34
  • 86.43 (n)
(Rattus norvegicus)
Mammalia Cyp2u1 33
  • 80 (n)
(Mus musculus)
Mammalia Cyp2u1 33 16 34
  • 79.81 (n)
(Ornithorhynchus anatinus)
Mammalia CYP2U1 34
  • 79 (a)
(Monodelphis domestica)
Mammalia CYP2U1 34
  • 63 (a)
(Gallus gallus)
Aves LOC422528 33
  • 68.63 (n)
CYP2U1 34
  • 63 (a)
(Anolis carolinensis)
Reptilia CYP2U1 34
  • 68 (a)
tropical clawed frog
(Silurana tropicalis)
Amphibia cyp2u1 33
  • 65.64 (n)
(Danio rerio)
Actinopterygii cyp2u1 33 34
  • 60.22 (n)
fruit fly
(Drosophila melanogaster)
Insecta Cyp18a1 33
  • 47.28 (n)
thale cress
(Arabidopsis thaliana)
eudicotyledons AT5G04330 33
  • 43.15 (n)
Species where no ortholog for CYP2U1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya 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 squirt (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

Gene Tree for CYP2U1 (if available)
Gene Tree for CYP2U1 (if available)

Paralogs for CYP2U1 Gene

Variants for CYP2U1 Gene

Sequence variations from dbSNP and Humsavar for CYP2U1 Gene

SNP ID Clin Chr 04 pos Variation AA Info Type
rs141431913 pathogenic, Spastic paraplegia 56, autosomal recessive, Spastic paraplegia 56, autosomal recessive (SPG56) [MIM:615030] 107,950,250(+) C/T coding_sequence_variant, missense_variant
rs142676629 benign, Spastic paraplegia 107,947,400(+) G/T coding_sequence_variant, missense_variant
rs147506864 uncertain-significance, Spastic paraplegia 107,931,951(+) C/T coding_sequence_variant, missense_variant
rs147612190 benign, Spastic paraplegia 107,932,139(+) C/G/T coding_sequence_variant, intron_variant, missense_variant
rs148983337 benign, Spastic paraplegia 107,945,471(+) A/G coding_sequence_variant, intron_variant, missense_variant

Structural Variations from Database of Genomic Variants (DGV) for CYP2U1 Gene

Variant ID Type Subtype PubMed ID
nsv1161125 CNV deletion 26073780
nsv4457 CNV insertion 18451855
nsv595120 CNV loss 21841781
nsv461611 CNV loss 19166990

Variation tolerance for CYP2U1 Gene

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

Human Gene Mutation Database (HGMD)
SNPedia medical, phenotypic, and genealogical associations of SNPs for

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for CYP2U1 Gene

Disorders for CYP2U1 Gene

MalaCards: The human disease database

(10) MalaCards diseases for CYP2U1 Gene - From: HGMD, OMIM, ClinVar, GTR, Orphanet, Swiss-Prot, DISEASES, and GeneCards

- elite association - COSMIC cancer census association via MalaCards


  • 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
Human Genome Epidemiology Navigator
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with CYP2U1: view

No data available for Genatlas for CYP2U1 Gene

Publications for CYP2U1 Gene

  1. 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 58
  2. 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 58
  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 44 58
  4. Cytochrome P450 2U1, a very peculiar member of the human P450s family. (PMID: 28083596) Dhers L … Mansuy D (Cellular and molecular life sciences : CMLS 2017) 3 58
  5. Spectral and 3D model studies of the interaction of orphan human cytochrome P450 2U1 with substrates and ligands. (PMID: 27456766) Dhers L … Boucher JL (Biochimica et biophysica acta 2017) 3 58

Products for CYP2U1 Gene

Sources for CYP2U1 Gene

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