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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
    mouse all
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    Genomic context

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    See CYP4X1 in Genome Data Viewer
    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

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

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