U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

Links from MedGen

    • Showing Current items.

    CYP2U1 cytochrome P450 family 2 subfamily U member 1 [ Homo sapiens (human) ]

    Gene ID: 113612, updated on 3-Apr-2024

    Summary

    Go to the top of the page Help
    Official Symbol
    CYP2U1provided by HGNC
    Official Full Name
    cytochrome P450 family 2 subfamily U member 1provided by HGNC
    Primary source
    HGNC:HGNC:20582
    See related
    Ensembl:ENSG00000155016 MIM:610670; AllianceGenome:HGNC:20582
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    SPG49; SPG56; P450TEC
    Summary
    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]
    Expression
    Ubiquitous expression in prostate (RPKM 5.8), ovary (RPKM 5.2) and 24 other tissues See more
    Orthologs
    mouse all
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    Go to the top of the page Help
    Location:
    4q25
    Exon count:
    5
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 4 NC_000004.12 (107931549..107953461)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 4 NC_060928.1 (111232159..111255785)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 4 NC_000004.11 (108852705..108874617)

    Chromosome 4 - NC_000004.12Genomic Context describing neighboring genes Neighboring gene 3'-phosphoadenosine 5'-phosphosulfate synthase 1 Neighboring gene ReSE screen-validated silencer GRCh37_chr4:108626049-108626213 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 21789 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 15612 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 21790 Neighboring gene NANOG hESC enhancer GRCh37_chr4:108655227-108655757 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr4:108748306-108749505 Neighboring gene CYP2U1 and SGMS2 antisense RNA 1 Neighboring gene sphingomyelin synthase 2 Neighboring gene RNA, U6 small nuclear 733, pseudogene Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr4:108812473-108813203 Neighboring gene uncharacterized LOC107986298 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr4:108827506-108828091 Neighboring gene uncharacterized LOC124900751 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr4:108852075-108852582 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 21792 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 21791 Neighboring gene uncharacterized LOC107986299 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 15614 Neighboring gene hydroxyacyl-CoA dehydrogenase Neighboring gene H3K4me1 hESC enhancer GRCh37_chr4:108977631-108978132 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 21793 Neighboring gene lymphoid enhancer binding factor 1 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 15615 Neighboring gene NANOG hESC enhancer GRCh37_chr4:109038529-109039038 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 21794 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 21795 Neighboring gene OCT4-NANOG-H3K4me1 hESC enhancer GRCh37_chr4:109056573-109057124 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr4:109088159-109088660 Neighboring gene uncharacterized LOC124900752 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 21796 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 15617 Neighboring gene LEF1 antisense RNA 1

    Genomic regions, transcripts, and products

    Go to the top of the page Help

    Go to nucleotide: Graphics FASTA GenBank

    Expression

    Go to the top of the page Help
    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

    Go to the top of the pageHelp

    Related articles in PubMed

    1. Human Orphan Cytochrome P450 2U1 Catalyzes the ω-Hydroxylation of Leukotriene B(4). Nouri K, et al. Int J Mol Sci, 2022 Nov 23. PMID 36498943, Free PMC Article
    2. Generation of iPSC lines from hereditary spastic paraplegia 56 (SPG56) patients and family members carrying CYP2U1 mutations. Leeson HC, et al. Stem Cell Res, 2022 Oct. PMID 36166872
    3. CYP2U1 activity is altered by missense mutations in hereditary spastic paraplegia 56. Durand CM, et al. Hum Mutat, 2018 Jan. PMID 29034544
    4. Membrane-bound human orphan cytochrome P450 2U1: Sequence singularities, construction of a full 3D model, and substrate docking. Ducassou L, et al. Biochimie, 2017 Sep. PMID 28743672
    5. An atypical case of SPG56/CYP2U1-related spastic paraplegia presenting with delayed myelination. Minase G, et al. J Hum Genet, 2017 Nov. PMID 28725025

    See all (30) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Human Orphan Cytochrome P450 2U1 Catalyzes the omega-Hydroxylation of Leukotriene B4.
      Title: Human Orphan Cytochrome P450 2U1 Catalyzes the ω-Hydroxylation of Leukotriene B(4).
    2. Generation of iPSC lines from hereditary spastic paraplegia 56 (SPG56) patients and family members carrying CYP2U1 mutations.
      Title: Generation of iPSC lines from hereditary spastic paraplegia 56 (SPG56) patients and family members carrying CYP2U1 mutations.
    3. Implication of folate deficiency in CYP2U1 loss of function.
      Title: Implication of folate deficiency in CYP2U1 loss of function.
    4. Rare novel CYP2U1 and ZFYVE26 variants identified in two Pakistani families with spastic paraplegia.
      Title: Rare novel CYP2U1 and ZFYVE26 variants identified in two Pakistani families with spastic paraplegia.
    5. we report a novel variant (CYP2U1:c.604G>A) in a consanguineous Pakistani family manifesting features of hereditary spastic paraplegia
      Title: Whole exome sequencing identifies novel variant underlying hereditary spastic paraplegia in consanguineous Pakistani families.
    6. The results suggested that SPG46 and SPG56 are rare causes of hereditary spastic paraplegia in China.
      Title: SPG46 and SPG56 are rare causes of hereditary spastic paraplegia in China.
    7. Most CYP2U1 missense mutations in hereditary spastic paraplegia 56 lead to an inhibition of enzymatic activity that can be explained by the loss of proper heme binding to the protein or modification in protein structure.
      Title: CYP2U1 activity is altered by missense mutations in hereditary spastic paraplegia 56.
    8. we report a patient with SPG56 with novel compound heterozygous mutations in CYP2U1 which were identified by whole exome sequencing. Our patient exhibited complex features together with delayed myelination, broadening the phenotypic spectrum of SPG56, and implying that CYP2U1 should be screened in HSP with delayed myelination
      Title: An atypical case of SPG56/CYP2U1-related spastic paraplegia presenting with delayed myelination.
    9. the mode of interaction of several Fe(III)-heme ligands and substrates with the active site of CYP2U1 on the basis of spectroscopic and molecular docking data.[CYP2U1]
      Title: Spectral and 3D model studies of the interaction of orphan human cytochrome P450 2U1 with substrates and ligands.
    10. protein sequence of CYP2U1 displayed two unique characteristics when compared to those of the human CYPs, the presence of a longer N-terminal region upstream of the putative trans-membrane helix (TMH) containing 8 proline residues, and of an insert of about 20 amino acids containing 5 arginine residues between helices A' and A
      Title: Membrane-bound human orphan cytochrome P450 2U1: Sequence singularities, construction of a full 3D model, and substrate docking.
    Submit: New GeneRIF Correction See all GeneRIFs (22)

    Phenotypes

    Go to the top of the page Help

    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    Associated conditions

    Description Tests
    Hereditary spastic paraplegia 56
    MedGen: C3539507 OMIM: 615030 GeneReviews: Not available
    		Compare labs

    Variation

    Go to the top of the page Help

    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Genotypes

    Pathways from PubChem

    Go to the top of the page

    Interactions

    Go to the top of the page Help
    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Go to the top of the page Help

    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables arachidonic acid omega-hydroxylase activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables heme binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables iron ion binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables long-chain fatty acid omega-hydroxylase activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables monooxygenase activity TAS
    Traceable Author Statement
    more info
    		  
    enables 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
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables steroid hydroxylase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Process Evidence Code Pubs
    involved_in cytochrome metabolic process TAS
    Traceable Author Statement
    more info
    		  
    involved_in omega-hydroxylase P450 pathway IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in omega-hydroxylase P450 pathway TAS
    Traceable Author Statement
    more info
    		  
    involved_in organic acid metabolic process IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in xenobiotic metabolic process IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Component Evidence Code Pubs
    is_active_in cytoplasm IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in endoplasmic reticulum membrane TAS
    Traceable Author Statement
    more info
    		  
    is_active_in intracellular membrane-bounded organelle IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in mitochondrial inner membrane IEA
    Inferred from Electronic Annotation
    more info
    		  

    General protein information

    Go to the top of the page Help
    Preferred Names
    cytochrome P450 2U1
    Names
    cytochrome P450, family 2, subfamily U, polypeptide 1
    long-chain fatty acid omega-monooxygenase
    spastic paraplegia 49
    spastic paraplegia 56 (autosomal dominant)
    NP_898898.1
    XP_005262774.1
    XP_005262777.1
    XP_054204821.1
    XP_054204822.1

    NCBI Reference Sequences (RefSeq)

    Go to the top of the page Help

    NEW Try the new Transcript table

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    Genomic

    1. NG_007961.1 RefSeqGene

      Range
      4989..26901
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_183075.3 → NP_898898.1  cytochrome P450 2U1

      See identical proteins and their annotated locations for NP_898898.1

      Status: REVIEWED

      Source sequence(s)
      AC096564, AC114733, AK026498, AY343323, BU838483, BX354124, BX437421, CD672608
      Consensus CDS
      CCDS34047.1
      UniProtKB/Swiss-Prot
      B2RMV7, Q7Z449, Q96EQ6
      UniProtKB/TrEMBL
      A8K1T7
      Related
      ENSP00000333212.6, ENST00000332884.11
      Conserved Domains (1) summary
      pfam00067
      Location:60 → 537
      p450; Cytochrome P450

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000004.12 Reference GRCh38.p14 Primary Assembly

      Range
      107931549..107953461
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_005262717.2 → XP_005262774.1  cytochrome P450 2U1 isoform X1

      UniProtKB/TrEMBL
      A8K1T7
      Conserved Domains (1) summary
      pfam00067
      Location:60 → 555
      p450; Cytochrome P450

    2. XM_005262720.2 → XP_005262777.1  cytochrome P450 2U1 isoform X2

      Conserved Domains (1) summary
      cl12078
      Location:164 → 325
      p450; Cytochrome P450

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060928.1 Alternate T2T-CHM13v2.0

      Range
      111232159..111255785
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054348846.1 → XP_054204821.1  cytochrome P450 2U1 isoform X3

    2. XM_054348847.1 → XP_054204822.1  cytochrome P450 2U1 isoform X2

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q7Z449.1 GenPept UniProtKB/Swiss-Prot:Q7Z449

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

    Chemical Information
    Molecular Biology Databases
    Research Materials
    Tools
    Miscellaneous