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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 1.14.14.1 4 61
  • 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 56. Among its related pathways are Cytochrome P450 - arranged by substrate type and Metabolism. 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

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 Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH04F108354 1.3 FANTOM5 Ensembl ENCODE 14.7 +424.6 424576 2.3 HDGF PKNOX1 MTA2 CEBPB TBX21 RAD21 ZNF316 SMARCA4 SCRT2 IKZF1 CYP2U1 LEF1 ZACNP1 GC04P108177 PIR33250
GH04F107930 0.9 ENCODE 19.7 +0.4 378 2.5 PKNOX1 ARID4B GLIS2 EGR1 ZNF366 EGR2 SP3 SP5 NFYC SP1 CYP2U1 ENSG00000249604
GH04F108163 1.3 Ensembl ENCODE 8.6 +235.2 235220 6.0 PKNOX1 ZNF2 ZNF121 GLIS2 KLF7 ZNF263 SP3 REST ZNF264 CBX8 OSTC CYP2U1 HADH LEF1-AS1 GC04P108129
GH04F108105 1.6 FANTOM5 Ensembl ENCODE 6.5 +181.5 181526 13.9 ATF1 PKNOX1 ARNT SIN3A FEZF1 GATA2 CBX5 FOS JUNB NCOA1 LEF1 LEF1-AS1 CYP2U1 ENSG00000249604 HADH GC04P108129 GC04M107959
GH04F108140 2.1 VISTA Ensembl ENCODE 4.3 +210.1 210050 2.4 PKNOX1 MTA2 MLLT1 CREM TCF7L2 LEF1-AS1 LEF1 CYP2U1 HADH GC04P108129
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

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
ENSR00001433943 332 2200 PKNOX1 ARID4B GLIS2 EGR1 ZNF366 MIXL1 EGR2 SP3 SP5 NFYC

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

Selected DME Specific Peptides for CYP2U1 Gene

Q7Z449:
  • NPQDFIDMYLLH
  • RAPSLTDKAQMPYTEATIMEVQRL
  • VSNIICS
  • EEIERVIG

Post-translational modifications for CYP2U1 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for CYP2U1 Gene

Domains & Families for CYP2U1 Gene

Gene Families 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: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

Inhibitory RNA Products

Clone Products

Flow Cytometry 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

COMPARTMENTS
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

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
Oxygen Approved, Vet_approved Pharma 0
Water Approved Pharma 0
Docosahexaenoic acid Pharma Full agonist, Agonist 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:

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

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 from GTEx, Illumina, BioGPS, and 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:

CYP2U1

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

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
chimpanzee
(Pan troglodytes)
Mammalia CYP2U1 35
  • 100 (a)
OneToOne
LOC471267 34
  • 99.82 (n)
dog
(Canis familiaris)
Mammalia CYP2U1 34 35
  • 89.06 (n)
cow
(Bos Taurus)
Mammalia CYP2U1 34 35
  • 86.43 (n)
rat
(Rattus norvegicus)
Mammalia Cyp2u1 34
  • 80 (n)
mouse
(Mus musculus)
Mammalia Cyp2u1 34 16 35
  • 79.81 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia CYP2U1 35
  • 79 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia CYP2U1 35
  • 63 (a)
OneToOne
chicken
(Gallus gallus)
Aves LOC422528 34
  • 68.63 (n)
CYP2U1 35
  • 63 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia CYP2U1 35
  • 68 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia cyp2u1 34
  • 65.64 (n)
zebrafish
(Danio rerio)
Actinopterygii cyp2u1 34 35
  • 60.22 (n)
fruit fly
(Drosophila melanogaster)
Insecta Cyp18a1 34
  • 47.28 (n)
thale cress
(Arabidopsis thaliana)
eudicotyledons AT5G04330 34
  • 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

ENSEMBL:
Gene Tree for CYP2U1 (if available)
TreeFam:
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 Sequence Context AA Info Type
rs141431913 Spastic paraplegia 56, autosomal recessive (SPG56) [MIM:615030], Pathogenic 107,950,250(+) GGAAG(C/T)GGGTG intron-variant, reference, missense
rs397514513 Spastic paraplegia 56, autosomal recessive (SPG56) [MIM:615030], Pathogenic 107,945,426(+) TCAGG(A/T)CTTCA intron-variant, reference, missense
rs397514514 Spastic paraplegia 56, autosomal recessive (SPG56) [MIM:615030], Pathogenic 107,947,388(+) TCATG(A/G)AGAAA intron-variant, reference, missense
rs397514515 Spastic paraplegia 56, autosomal recessive (SPG56) [MIM:615030], Pathogenic 107,945,263(+) AAATC(C/T)GTCTG intron-variant, reference, missense
rs767024102 Pathogenic 107,947,458(+) TACAC(-/AG)AAGCC intron-variant, reference, frameshift-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
nsv461611 CNV loss 19166990
nsv595120 CNV loss 21841781

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
SNPedia medical, phenotypic, and genealogical associations of SNPs for
CYP2U1

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

Disorders for CYP2U1 Gene

MalaCards: The human disease database

(5) 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
paraplegia
  • paraplegia, lower
sengers syndrome
  • mitochondrial dna depletion syndrome 10
- 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 22 64
  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 64
  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 46 64
  4. CYP2U1 mutations in two Iranian patients with activity induced dystonia, motor regression and spastic paraplegia. (PMID: 27292318) Kariminejad A. … Gleeson J.G. (Eur. J. Paediatr. Neurol. 2016) 3 64
  5. 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 64

Products for CYP2U1 Gene

Sources for CYP2U1 Gene

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