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

  • Cytochrome P450 Family 2 Subfamily U Member 1 2 3 5
  • Cytochrome P450, Family 2, Subfamily U, Polypeptide 1 2 3
  • Spastic Paraplegia 56 (Autosomal Dominant) 2 3
  • Long-Chain Fatty Acid Omega-Monooxygenase 3 4
  • Spastic Paraplegia 49 2 3
  • Cytochrome P450 2U1 3 4
  • SPG49 2 3
  • EC 1.14.14.80 4
  • EC 1.14.14.1 50
  • P450TEC 3
  • CYP2U1 5
  • SPG56 3

External Ids for CYP2U1 Gene

Previous HGNC Symbols for CYP2U1 Gene

  • SPG56

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 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).

Gene Wiki entry for CYP2U1 Gene

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
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH04J107930 Promoter/Enhancer 1.9 EPDnew Ensembl ENCODE CraniofacialAtlas 269.6 +0.4 352 3 SP1 ZNF600 ZNF10 POLR2A TARDBP ZNF341 KMT2B CTBP1 ZNF610 SMAD4 CYP2U1 LOC107986299 LOC107986298 CYP2U1-AS1 HADH
GH04J108157 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 8.6 +232.2 232178 12.7 MYC IKZF1 ZNF600 ZNF592 ZIC2 ZBTB10 REST SMAD5 SIN3A HES1 LEF1 CYP2U1 HADH LEF1-AS1 lnc-LEF1-1 HSALNG0036266
GH04J107976 Enhancer 0.7 dbSUPER 22.8 +46.6 46579 4 CEBPA ATF3 YY1 SMAD4 RXRA SAP130 TEAD3 ZBTB33 JUND BCL6 CYP2U1 HADH piR-30791-072 CYP2U1-AS1 LOC107986298 piR-55194-274
GH04J107906 Enhancer 0.5 Ensembl ENCODE 30.3 -24.8 -24848 1.4 ETS1 NANOG lnc-CYP2U1-1 CYP2U1 CYP2U1-AS1 PAPSS1 SGMS2 RF00026-785 RNU6-733P
GH04J108172 Promoter/Enhancer 1.7 Ensembl ENCODE CraniofacialAtlas dbSUPER 8.7 +241.0 240952 3.4 MYC NFIC ZIC2 SMAD5 FEZF1 TBP ZNF341 MNT ARNT IRF2 CYP2U1 HADH LEF1 LEF1-AS1 piR-40251 lnc-LEF1-1 RPL34
- 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

chr4:108,852,525-108,874,613
(GRCh37/hg19 by Ensembl)
Size:
22,089 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

Antibodies for research

  • Abcam antibodies 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

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 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

Gene Ontology (GO) - Molecular Function 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 --
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:
  • Cyp2u1 Cyp2u1<tm1b(EUCOMM)Wtsi>

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products 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.

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
mitochondrion 4
plasma membrane 3
endoplasmic reticulum 2
extracellular 1
cytoskeleton 1
peroxisome 1
nucleus 1
cytosol 1
lysosome 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: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 --
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

UniProtKB/Swiss-Prot Q7Z449-CP2U1_HUMAN

  • Pathway: Lipid metabolism; arachidonate metabolism.

Gene Ontology (GO) - Biological Process for CYP2U1 Gene

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 --
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 0
Oxygen Approved, Vet_approved Pharma 0
Water Approved Pharma 0
heme Pharma 0
genes like me logo Genes that share compounds with CYP2U1: view

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 :

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for CYP2U1

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

No ASD Table

Relevant External Links for CYP2U1 Gene

GeneLoc Exon Structure 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, 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.109087

mRNA 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
genes like me logo Genes that share expression patterns with CYP2U1: view

Primer products 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.

Orthologs for CYP2U1 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia CYP2U1 30
  • 100 (a)
OneToOne
LOC471267 29
  • 99.82 (n)
Dog
(Canis familiaris)
Mammalia CYP2U1 29 30
  • 89.06 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia CYP2U1 29 30
  • 86.43 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Cyp2u1 29
  • 80 (n)
Mouse
(Mus musculus)
Mammalia Cyp2u1 29 16 30
  • 79.81 (n)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia CYP2U1 30
  • 79 (a)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia CYP2U1 30
  • 63 (a)
OneToOne
Chicken
(Gallus gallus)
Aves LOC422528 29
  • 68.63 (n)
CYP2U1 30
  • 63 (a)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia CYP2U1 30
  • 68 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia cyp2u1 29
  • 65.64 (n)
Zebrafish
(Danio rerio)
Actinopterygii cyp2u1 29 30
  • 60.22 (n)
OneToOne
Fruit Fly
(Drosophila melanogaster)
Insecta Cyp18a1 29
  • 47.28 (n)
Thale Cress
(Arabidopsis thaliana)
eudicotyledons AT5G04330 29
  • 43.15 (n)
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

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

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for CYP2U1 Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

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)

Additional Variant Information for CYP2U1 Gene

Human Gene Mutation Database (HGMD)
CYP2U1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
CYP2U1
Leiden Open Variation Database (LOVD)
CYP2U1

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

MalaCards: The human disease database

(25) MalaCards diseases for CYP2U1 Gene - From: OMI, CVR, GTR, ORP, SWI, COP, and GCD

- 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 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
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
  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
  3. Oxidation of endogenous N-arachidonoylserotonin by human cytochrome P450 2U1. (PMID: 24563460) Siller M … Guengerich FP (The Journal of biological chemistry 2014) 3 4
  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
  5. 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

Sources for CYP2U1 Gene