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CYP4X1 cytochrome P450 family 4 subfamily X member 1 [ Homo sapiens (human) ]

Gene ID: 260293, updated on 5-Mar-2024

Summary

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Official Symbol
CYP4X1provided by HGNC
Official Full Name
cytochrome P450 family 4 subfamily X member 1provided by HGNC
Primary source
HGNC:HGNC:20244
See related
Ensembl:ENSG00000186377 MIM:614999; AllianceGenome:HGNC:20244
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
CYPIVX1
Summary
This gene encodes a member of the cytochrome P450 superfamily of enzymes and is located within a cluster of genes belonging to this superfamily on chromosome 1. The cytochrome P450 proteins are monooxygenases which catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids. The expression pattern of a similar rat protein suggests that this protein may be involved in neurovascular function in the brain. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2016]
Expression
Broad expression in prostate (RPKM 4.4), lung (RPKM 4.1) and 23 other tissues See more
Orthologs
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Genomic context

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Location:
1p33; 1
Exon count:
15
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (46961364..47055432)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (46838775..46932851)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (47427036..47516423)

Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene cytochrome P450 family 4 subfamily Z member 2, pseudogene Neighboring gene tubulin alpha pseudogene 8 Neighboring gene cytochrome P450 family 4 subfamily A member 11 Neighboring gene ReSE screen-validated silencer GRCh37_chr1:47434192-47434383 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:47449029-47449836 Neighboring gene cytochrome P450 family 4 subfamily A member 26, pseudogene Neighboring gene cytochrome P450 family 4 subfamily A member 43, pseudogene Neighboring gene cytochrome P450 family 4 subfamily A member 27, pseudogene Neighboring gene uncharacterized LOC124904172 Neighboring gene cytochrome P450 family 4 subfamily A member 44, pseudogene Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:47489635-47490135 Neighboring gene cytochrome P450 family 4 subfamily Z member 1 Neighboring gene tubulin alpha pseudogene 9 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:47569786-47570506 Neighboring gene NANOG-H3K4me1 hESC enhancer GRCh37_chr1:47573513-47574122 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr1:47578681-47579223 Neighboring gene cytochrome P450 family 4 subfamily A member 22

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. The genetic Creutzfeldt-Jakob disease with E200K mutation: analysis of clinical, genetic and laboratory features of 30 Chinese patients. Gao LP, et al. Sci Rep, 2019 Feb 12. PMID 30755683, Free PMC Article
  2. Age at onset of genetic (E200K) and sporadic Creutzfeldt-Jakob diseases is modulated by the CYP4X1 gene. Poleggi A, et al. J Neurol Neurosurg Psychiatry, 2018 Dec. PMID 30032116
  3. Computational identification and binding analysis of orphan human cytochrome P450 4X1 enzyme with substrates. Kumar S. BMC Res Notes, 2015 Jan 17. PMID 25595103, Free PMC Article
  4. Expression and purification of orphan cytochrome P450 4X1 and oxidation of anandamide. Stark K, et al. FEBS J, 2008 Jul. PMID 18549450, Free PMC Article
  5. Identification of a novel cytochrome P450, CYP4X1, with unique localization specific to the brain. Bylund J, et al. Biochem Biophys Res Commun, 2002 Aug 23. PMID 12176035

See all (16) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. The genetic Creutzfeldt-Jakob disease with E200K mutation: analysis of clinical, genetic and laboratory features of 30 Chinese patients.
    Title: The genetic Creutzfeldt-Jakob disease with E200K mutation: analysis of clinical, genetic and laboratory features of 30 Chinese patients.
  2. results indicate that the CYP4X1 gene modulates the onset of disease in patients with E200K genetic and sporadic Creutzfeldt-Jakob disease.
    Title: Age at onset of genetic (E200K) and sporadic Creutzfeldt-Jakob diseases is modulated by the CYP4X1 gene.
  3. Key residues were identified to be responsible for the binding of arachidonic acid and anandamide with orphan human cytochrome P450 4X1.
    Title: Computational identification and binding analysis of orphan human cytochrome P450 4X1 enzyme with substrates.
  4. PPARalpha has a role in CYP4X1 regulation, and the glucocorticoid and progesterone receptors have roles in CYP4Z1 gene activation
    Title: Conditional regulation of the human CYP4X1 and CYP4Z1 genes.
Submit: New GeneRIF Correction

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

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

Clone Names

  • MGC40051

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables anandamide 14,15 epoxidase activity IDA
Inferred from Direct Assay
more info
 PubMed 
enables heme binding IEA
Inferred from Electronic Annotation
more info
  
enables iron ion binding IEA
Inferred from Electronic Annotation
more info
  
Process Evidence Code Pubs
involved_in lipid metabolic process IEA
Inferred from Electronic Annotation
more info
  
Component Evidence Code Pubs
located_in endoplasmic reticulum membrane IEA
Inferred from Electronic Annotation
more info
  

General protein information

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Preferred Names
cytochrome P450 4X1
Names
cytochrome P450, family 4, subfamily X, polypeptide 1
NP_001307218.1
NP_001307219.1
NP_828847.1
XP_016856462.1
XP_047273308.1
XP_054191850.1
XP_054191851.1

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_007966.3 RefSeqGene

    Range
    67307..94389
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001320289.2 → NP_001307218.1  cytochrome P450 4X1 isoform 2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) contains an alternate 5' terminal exon and uses an alternate start codon, compared to variant 1. It encodes isoform 2, which has a shorter and distinct N-terminus, compared to isoform 1.
    Source sequence(s)
    AI923200, AK091806, AK131355
    UniProtKB/Swiss-Prot
    Q8N118
    Conserved Domains (1) summary
    pfam00067
    Location:58 → 500
    p450; Cytochrome P450

  2. NM_001320290.2 → NP_001307219.1  cytochrome P450 4X1 isoform 3

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) differs in the 5' UTR, lacks a portion of the 5' coding region and uses a downstrean in-frame start codon, compared to variant 1. It encodes isoform 3, which is shorter at the N-terminus, compared to isoform 1.
    Source sequence(s)
    AK091806, AL731892
    UniProtKB/Swiss-Prot
    Q8N118
    Conserved Domains (1) summary
    pfam00067
    Location:9 → 436
    p450; Cytochrome P450

  3. NM_178033.2 → NP_828847.1  cytochrome P450 4X1 isoform 1

    See identical proteins and their annotated locations for NP_828847.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (1).
    Source sequence(s)
    BC028102
    Consensus CDS
    CCDS544.1
    UniProtKB/Swiss-Prot
    G3V1U1, Q5VVE5, Q6ZN67, Q8N118, Q8NAZ3
    Related
    ENSP00000360968.3, ENST00000371901.4
    Conserved Domains (1) summary
    pfam00067
    Location:47 → 501
    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_000001.11 Reference GRCh38.p14 Primary Assembly

    Range
    46961364..47055432
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017000973.3 → XP_016856462.1  cytochrome P450 4X1 isoform X1

  2. XM_047417352.1 → XP_047273308.1  cytochrome P450 4X1 isoform X2

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060925.1 Alternate T2T-CHM13v2.0

    Range
    46838775..46932851
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054335875.1 → XP_054191850.1  cytochrome P450 4X1 isoform X1

  2. XM_054335876.1 → XP_054191851.1  cytochrome P450 4X1 isoform X2

Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q8N118.1 GenPept UniProtKB/Swiss-Prot:Q8N118

Gene LinkOut

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