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

Summary

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
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Genomic context

Location:: 4q25

Exon count:: 5

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	4	NC_000004.12 (107931549..107953461)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	4	NC_060928.1 (111232159..111255785)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	4	NC_000004.11 (108852705..108874617)

Chromosome 4 - NC_000004.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues 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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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

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).
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.
Implication of folate deficiency in CYP2U1 loss of function.
Title: Implication of folate deficiency in CYP2U1 loss of function.
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.
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.
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.
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.
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.
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.
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	not available

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

SHGC-59620 (e-PCR)
- UniSTS:60441

SHGC-59281 (e-PCR)
- UniSTS:564

D4S3152 (e-PCR)
- UniSTS:16724

SHGC-50164 (e-PCR)
- UniSTS:45215

A006Y35 (e-PCR)
- UniSTS:76988

SHGC-18776 (e-PCR)
- UniSTS:68036

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables arachidonate 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

EC 1.14.14.80

XP_005262774.1

EC 1.14.14.80

XP_005262777.1

EC 1.14.14.80

XP_054204821.1

EC 1.14.14.80

XP_054204822.1

EC 1.14.14.80

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

NG_007961.1 RefSeqGene

Range

4989..26901

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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_2024_08

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

Reference GRCh38.p14 Primary Assembly

Genomic

NC_000004.12 Reference GRCh38.p14 Primary Assembly

Range

107931549..107953461

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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

Conserved Domains (1) summary

cl12078
Location:164 → 325

p450; Cytochrome P450