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

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

Summary

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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
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Genomic context

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See CYP2U1 in Genome Data Viewer
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

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • 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

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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

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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
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Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

Pathways from PubChem

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Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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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

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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)

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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

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