CYP4A22 cytochrome P450 family 4 subfamily A member 22 [Homo sapiens (human)] - Gene

Summary

Official Symbol: CYP4A22provided by HGNC
Official Full Name: cytochrome P450 family 4 subfamily A member 22provided by HGNC
Primary source: HGNC:HGNC:20575
See related: Ensembl:ENSG00000162365 MIM:615341; AllianceGenome:HGNC:20575
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
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 gene is part of a cluster of cytochrome P450 genes on chromosome 1p33. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Apr 2015]
Expression: Biased expression in liver (RPKM 60.8) and kidney (RPKM 24.2) See more
Orthologs: all
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Genomic context

Location:: 1p33

Exon count:: 12

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	1	NC_000001.11 (47137441..47149727)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	1	NC_060925.1 (47014885..47027171)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	1	NC_000001.10 (47603113..47615399)

Chromosome 1 - NC_000001.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Novel polymorphisms in CYP4A22 associated with susceptibility to coronary heart disease.
Title: Novel polymorphisms in CYP4A22 associated with susceptibility to coronary heart disease.
Study demonstrate that the CYP4A22 gene codes for an active enzyme. It catalyzes the hydroxylation of both lauric and myristic acids. The structural model of CYP4A22 and substrate docking experiments suggest that its broadened spectrum of catalyzed reactions results from increased residual mobility of active site residue Phe320 and that arginines Arg96 and Arg233 are essential for substrate recognition.
Title: Functional characterization and mechanistic modeling of the human cytochrome P450 enzyme CYP4A22.
Data suggest that results could be helpful for further investigations of the potential role of CYP4A variants in the genetic susceptibility to cardiovascular diseases such as arterial hypertension.
Title: Genetic polymorphism of CYP4A11 and CYP4A22 genes and in silico insights from comparative 3D modelling in a French population.
A homology model has been constructed for CYP4A22 and refined by molecular dynamics simulation.
Title: Molecular modeling study on orphan human protein CYP4A22 for identification of potential ligand binding site.

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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

EBI GWAS Catalog

Description
Clozapine-induced agranulocytosis is associated with rare HLA-DQB1 and HLA-B alleles. EBI GWAS Catalog EBI GWAS CatalogPubMed

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-74787 (e-PCR)
- UniSTS:82953

GDB:226298 (e-PCR)
- UniSTS:156239

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables 16-hydroxypalmitate dehydrogenase activity	IDA Inferred from Direct Assay more info	PubMed
enables alkane 1-monooxygenase activity	IBA Inferred from Biological aspect of Ancestor more info
enables arachidonate monooxygenase activity	IBA Inferred from Biological aspect of Ancestor more info
NOT enables arachidonate omega-hydroxylase 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
enables long-chain fatty acid omega-hydroxylase activity	IEA Inferred from Electronic Annotation more info
enables medium-chain fatty acid omega-hydroxylase activity	IDA Inferred from Direct Assay more info	PubMed

Process	Evidence Code	Pubs
involved_in arachidonate metabolic process	IBA Inferred from Biological aspect of Ancestor more info
involved_in icosanoid biosynthetic process	IBA Inferred from Biological aspect of Ancestor more info
involved_in kidney development	IBA Inferred from Biological aspect of Ancestor more info
involved_in lauric acid metabolic process	IBA Inferred from Biological aspect of Ancestor more info
involved_in linoleic acid metabolic process	IBA Inferred from Biological aspect of Ancestor more info
involved_in lipid hydroxylation	IDA Inferred from Direct Assay more info	PubMed
NOT involved_in omega-hydroxylase P450 pathway	IDA Inferred from Direct Assay more info	PubMed

Component	Evidence Code	Pubs
located_in endoplasmic reticulum membrane	IEA Inferred from Electronic Annotation more info
located_in extracellular space	IDA Inferred from Direct Assay more info	PubMed
is_active_in intracellular membrane-bounded organelle	IBA Inferred from Biological aspect of Ancestor more info

General protein information

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Preferred Names: cytochrome P450 4A22

Names: CYPIVA22; cytochrome P450 4A22K; cytochrome P450, family 4, subfamily A, polypeptide 22; fatty acid omega-hydroxylase; lauric acid omega-hydroxylase; long-chain fatty acid omega-monooxygenase

NP_001010969.2

EC 1.14.14.80

NP_001295031.1

EC 1.14.14.80

XP_005270824.1

EC 1.14.14.80

XP_005270827.1

EC 1.14.14.80

XP_047274137.1

EC 1.14.14.80

XP_054192098.1

EC 1.14.14.80

XP_054192099.1

EC 1.14.14.80

XP_054192100.1

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_007937.1 RefSeqGene

Range

5007..17293

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_001010969.4 → NP_001010969.2 cytochrome P450 4A22 isoform 1

See identical proteins and their annotated locations for NP_001010969.2

Status: REVIEWED

Description

Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).

Source sequence(s)

AL135960, BC148248

Consensus CDS

CCDS30707.1

UniProtKB/Swiss-Prot

Q5TCH3, Q5TCH4, Q6JXK7, Q6JXK8, Q9NRM4

UniProtKB/TrEMBL

Q16802

Related

ENSP00000360958.3, ENST00000371891.8

Conserved Domains (1) summary

pfam00067
Location:52 → 505

p450; Cytochrome P450
NM_001308102.2 → NP_001295031.1 cytochrome P450 4A22 isoform 2

Status: REVIEWED

Description

Transcript Variant: This variant (2) differs in the 3' UTR and has multiple differences in the coding region, one of which results in a translational frameshift, compared to variant 1. The resulting protein (isoform 2) has a distinct internal region and has a shorter C-terminus than isoform 1.

Source sequence(s)

AL135960, BC142607, BC142690, BC148248

Consensus CDS

CCDS76160.1

UniProtKB/TrEMBL

A0A087WZX9, A5PL05

Related

ENSP00000482952.1, ENST00000619754.4

Conserved Domains (1) summary

cl12078
Location:52 → 357

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_000001.11 Reference GRCh38.p14 Primary Assembly

Range

47137441..47149727

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_005270767.4 → XP_005270824.1 cytochrome P450 4A22 isoform X1

See identical proteins and their annotated locations for XP_005270824.1

UniProtKB/TrEMBL

A5PL05, Q5TCH5

Related

ENSP00000360957.3, ENST00000371890.7

Conserved Domains (1) summary

cl12078
Location:52 → 407

p450; Cytochrome P450
XM_047418181.1 → XP_047274137.1 cytochrome P450 4A22 isoform X2
XM_005270770.4 → XP_005270827.1 cytochrome P450 4A22 isoform X3

UniProtKB/TrEMBL

V9GYQ2

Conserved Domains (1) summary

cl12078
Location:52 → 212

p450; Cytochrome P450

Alternate T2T-CHM13v2.0

Genomic

NC_060925.1 Alternate T2T-CHM13v2.0

Range

47014885..47027171

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_054336123.1 → XP_054192098.1 cytochrome P450 4A22 isoform X1

UniProtKB/TrEMBL

A5PL05
XM_054336124.1 → XP_054192099.1 cytochrome P450 4A22 isoform X2
XM_054336125.1 → XP_054192100.1 cytochrome P450 4A22 isoform X3

UniProtKB/TrEMBL

V9GYQ2