Free for academic non-profit institutions. Other users need a Commercial license

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 1.14.14.1 4 63
  • 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 56. Among its related pathways are nicotine degradation IV and Phase II conjugation. 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 CYP2C19.

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

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

Genomics for CYP2U1 Gene

Regulatory Elements for CYP2U1 Gene

Enhancers for CYP2U1 Gene
GeneHancer Identifier Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

Enhancers around CYP2U1 on UCSC Golden Path with GeneCards custom track

Promoters for CYP2U1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around CYP2U1 on UCSC Golden Path with GeneCards custom track

Genomic Location for CYP2U1 Gene

Chromosome:
4
Start:
107,931,369 bp from pter
End:
107,953,461 bp from pter
Size:
22,093 bases
Orientation:
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:
    Q7Z449-CP2U1_HUMAN
    Recommended name:
    Cytochrome P450 2U1
    Protein Accession:
    Q7Z449
    Secondary Accessions:
    • 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

    Alternative splice isoforms for CYP2U1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for CYP2U1 Gene

Proteomics data for CYP2U1 Gene at MOPED

Selected DME Specific Peptides for CYP2U1 Gene

Post-translational modifications for CYP2U1 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for CYP2U1 Gene

ENSEMBL proteins:
REFSEQ proteins:

Domains & Families for CYP2U1 Gene

Gene Families for CYP2U1 Gene

Protein Domains for CYP2U1 Gene

Suggested Antigen Peptide Sequences for CYP2U1 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q7Z449

UniProtKB/Swiss-Prot:

CP2U1_HUMAN :
  • Belongs to the cytochrome P450 family.
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

Gene Ontology (GO) - Molecular Function for CYP2U1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004497 monooxygenase activity TAS --
GO:0008395 steroid hydroxylase activity IBA --
GO:0070330 aromatase activity 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 Model Products

No data available for Animal Models , 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

COMPARTMENTS
Jensen Localization Image for CYP2U1 Gene COMPARTMENTS Subcellular localization image for CYP2U1 gene
Compartment Confidence
endoplasmic reticulum 5
plasma membrane 3
mitochondrion 1

No data available for Gene Ontology (GO) - Cellular Components for CYP2U1 Gene

Pathways & Interactions for CYP2U1 Gene

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

Interacting Proteins for CYP2U1 Gene

Gene Ontology (GO) - Biological Process for CYP2U1 Gene

GO ID Qualified GO term Evidence PubMed IDs
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

(2) Drugs for CYP2U1 Gene - From: HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Docosahexaenoic acid Pharma Full agonist, Agonist RXR agonist 0
heme Pharma Agonist 0

(2) Additional Compounds for CYP2U1 Gene - From: HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
oxygen
  • Dioxygen
  • Molecular oxygen
  • O2
  • Oxygen
  • Oxygen molecule
7782-44-7
Water
  • Dihydrogen oxide
  • Steam
7732-18-5
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:

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

No ASD Table

Relevant External Links for CYP2U1 Gene

GeneLoc Exon Structure for
CYP2U1
ECgene alternative splicing isoforms for
CYP2U1

Expression for CYP2U1 Gene

mRNA expression in normal human tissues 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, MOPED, and MaxQB for CYP2U1 Gene



SOURCE GeneReport for Unigene cluster for CYP2U1 Gene Hs.109087

mRNA Expression by UniProt/SwissProt for CYP2U1 Gene

Q7Z449-CP2U1_HUMAN
Tissue specificity: Widely expressed with stronger expression in thymus, heart and cerebellum.
genes like me logo Genes that share expression patterns with CYP2U1: view

Protein tissue co-expression partners for CYP2U1 Gene

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
cow
(Bos Taurus)
Mammalia CYP2U1 35
  • 86.43 (n)
  • 83.43 (a)
CYP2U1 36
  • 84 (a)
OneToOne
dog
(Canis familiaris)
Mammalia CYP2U1 35
  • 89.06 (n)
  • 88.26 (a)
CYP2U1 36
  • 79 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Cyp2u1 35
  • 79.81 (n)
  • 80.75 (a)
Cyp2u1 16
Cyp2u1 36
  • 80 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia LOC471267 35
  • 99.82 (n)
  • 99.82 (a)
CYP2U1 36
  • 100 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Cyp2u1 35
  • 80 (n)
  • 79.81 (a)
oppossum
(Monodelphis domestica)
Mammalia CYP2U1 36
  • 63 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia CYP2U1 36
  • 79 (a)
OneToOne
chicken
(Gallus gallus)
Aves LOC422528 35
  • 68.63 (n)
  • 67.48 (a)
CYP2U1 36
  • 63 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia CYP2U1 36
  • 68 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia cyp2u1 35
  • 65.64 (n)
  • 66.6 (a)
zebrafish
(Danio rerio)
Actinopterygii cyp2u1 35
  • 60.22 (n)
  • 59.47 (a)
cyp2u1 36
  • 54 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta Cyp18a1 35
  • 47.28 (n)
  • 37.55 (a)
thale cress
(Arabidopsis thaliana)
eudicotyledons AT5G04330 35
  • 43.15 (n)
  • 31.12 (a)
Species with no ortholog for CYP2U1:
  • 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

ENSEMBL:
Gene Tree for CYP2U1 (if available)
TreeFam:
Gene Tree for CYP2U1 (if available)

Paralogs for CYP2U1 Gene

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

Variants for CYP2U1 Gene

Sequence variations from dbSNP and Humsavar for CYP2U1 Gene

SNP ID Clin Chr 04 pos Sequence Context AA Info Type
VAR_069575 Spastic paraplegia 56, autosomal recessive (SPG56)
VAR_069576 Spastic paraplegia 56, autosomal recessive (SPG56)
VAR_069577 Spastic paraplegia 56, autosomal recessive (SPG56)
VAR_069578 Spastic paraplegia 56, autosomal recessive (SPG56)
rs7791 -- 107,952,152(+) TAAGA(A/C)GTGTA utr-variant-3-prime

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

Variant ID Type Subtype PubMed ID
nsv461611 CNV Loss 19166990
dgv5673n71 CNV Loss 21882294
nsv4457 CNV Insertion 18451855

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)

Relevant External Links for CYP2U1 Gene

Human Gene Mutation Database (HGMD)
CYP2U1

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

Disorders for CYP2U1 Gene

MalaCards: The human disease database

(4) MalaCards diseases for CYP2U1 Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
spastic paraplegia 56, autosomal recessive
  • autosomal recessive spastic paraplegia type 56
spastic paraplegia 56
spastic paraplegia 49
  • spastic paraplegia 49, autosomal recessive
amyotrophic lateral sclerosis type 5
  • als5
- elite association - COSMIC cancer census association via MalaCards

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.

Relevant External Links for CYP2U1

Genetic Association Database (GAD)
CYP2U1
Human Genome Epidemiology (HuGE) Navigator
CYP2U1
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
CYP2U1
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 S.S. … Korczak B. (J. Biol. Chem. 2004) 2 3 4 23 67
  2. Characterization and tissue distribution of a novel human cytochrome P450-CYP2U1. (PMID: 14975754) Karlgren M. … Ingelman-Sundberg M. (Biochem. Biophys. Res. Commun. 2004) 2 3
  3. Expression in yeast, new substrates, and construction of a first 3D model of human orphan cytochrome P450 2U1: Interpretation of substrate hydroxylation regioselectivity from docking studies. (PMID: 25857771) Ducassou L. … Boucher J.L. (Biochim. Biophys. Acta 2015) 3
  4. Oxidation of endogenous N-arachidonoylserotonin by human cytochrome P450 2U1. (PMID: 24563460) Siller M. … Guengerich F.P. (J. Biol. Chem. 2014) 3
  5. Mutations in CYP2U1, DDHD2 and GBA2 genes are rare causes of complicated forms of hereditary spastic paraparesis. (PMID: 24337409) Citterio A. … Bassi M.T. (J. Neurol. 2013) 3

Products for CYP2U1 Gene

Sources for CYP2U1 Gene

Content