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Aliases for CYP2U1 Gene

Aliases for CYP2U1 Gene

  • Cytochrome P450, Family 2, Subfamily U, Polypeptide 1 2 3
  • Spastic Paraplegia 49 2 3
  • EC 1.14.14.1 4 63
  • SPG56 3 6
  • Cytochrome P450 2U1 3
  • P450TEC 3
  • SPG49 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, Polypeptide 1) is a Protein Coding gene. Diseases associated with CYP2U1 include spastic paraplegia 56, autosomal recessive. Among its related pathways are Metabolism and Metabolism. GO annotations related to this gene include electron carrier activity and heme binding. 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

Genomic Location for CYP2U1 Gene

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

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
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:
Reactome Protein details:
REFSEQ proteins:

Domains for CYP2U1 Gene

Gene Families for CYP2U1 Gene

HGNC:
  • CYP :Cytochrome P450s
IUPHAR :

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 :
  • Q7Z449
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 flavoprotein + O(2) = ROH + oxidized flavoprotein + 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:0005506 iron ion binding IEA --
GO:0008395 steroid hydroxylase activity IBA --
GO:0016705 oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen --
GO:0016712 oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen IBA --
GO:0019825 oxygen binding IBA --
genes like me logo Genes that share ontologies with CYP2U1: view

Phenotypes for CYP2U1 Gene

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

miRNA for CYP2U1 Gene

No data available for Animal Models , Transcription Factor Targeting 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

Gene Ontology (GO) - Cellular Components for CYP2U1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IBA --
GO:0005789 endoplasmic reticulum membrane TAS --
GO:0016021 integral component of membrane IEA --
GO:0043231 intracellular membrane-bounded organelle IBA --
genes like me logo Genes that share ontologies with CYP2U1: view

Pathways 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:0006082 organic acid metabolic process IBA --
GO:0006805 xenobiotic metabolic process TAS --
GO:0008219 cell death --
GO:0019369 arachidonic acid metabolic process TAS --
GO:0042738 exogenous drug catabolic process IBA --
genes like me logo Genes that share ontologies with CYP2U1: view

Compounds for CYP2U1 Gene

(10) HMDB Compounds for CYP2U1 Gene

Compound Synonyms Cas Number PubMed IDs
10-HETE
  • 10-hydroxyeicosa-all-cis-5,8,11,14-tetraenoate
167697-52-1
11beta-Hydroxytestosterone
  • 11beta,17beta-dihydroxyandrost-4-en-3-one
1816-85-9
13-HETE
  • 13-hydroxy-5Z,8Z,11Z,14Z-eicosatetraenoate
151910-72-4
17-HETE
  • 17-hydroxyeicosatetraenate
Not Available
2beta-Hydroxytestosterone
  • 2beta,17beta-dihydroxyandrost-4-en-3-one
10390-14-4
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

Integrated Proteomics: protein expression 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 expressions with CYP2U1: view

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
chimpanzee
(Pan troglodytes)
Mammalia CYP2U1 36
  • 100 (a)
OneToOne
LOC471267 35
  • 99.82 (n)
  • 99.82 (a)
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
oppossum
(Monodelphis domestica)
Mammalia CYP2U1 36
  • 63 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia CYP2U1 36
  • 79 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Cyp2u1 35
  • 80 (n)
  • 79.81 (a)
chicken
(Gallus gallus)
Aves CYP2U1 36
  • 63 (a)
OneToOne
LOC422528 35
  • 68.63 (n)
  • 67.48 (a)
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 MAF
rs7791 -- 107,952,152(+) TAAGA(A/C)GTGTA utr-variant-3-prime
rs8727 -- 107,952,129(+) CCAGT(C/T)GTCTT utr-variant-3-prime
rs998405 -- 107,941,681(+) AGCTA(C/G)AGTAG intron-variant
rs1493121 -- 107,940,061(+) CTTGA(C/T)GCTGC intron-variant
rs1493122 -- 107,943,495(+) AGAAA(C/T)ATAAT intron-variant

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

Relevant External Links for CYP2U1 Gene

HapMap Linkage Disequilibrium report
CYP2U1
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

MalaCards: The human disease database. (1) Diseases for CYP2U1 Gene including...

Search for CYP2U1 Gene in MalaCards »

(1) OMIM Diseases for CYP2U1 Gene (610670)

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

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
  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 4
  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 B.P. (Hum. Mol. Genet. 2010) 3 48
  4. Genetic polymorphism of CYP2U1, a cytochrome P450 involved in fatty acids hydroxylation. (PMID: 20630735) Devos A. … Cauffiez C. (Prostaglandins Leukot. Essent. Fatty Acids 2010) 3
  5. Transcriptomic and quantitative proteomic analysis of transporters and drug metabolizing enzymes in freshly isolated human brain microvessels. (PMID: 21707071) Shawahna R. … Scherrmann J.M. (Mol. Pharm. 2011) 3

Products for CYP2U1 Gene

Sources for CYP2U1 Gene

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