Reviewed,
UniProtKB/Swiss-Prot Q5TCH4 (CP4AM_HUMAN)
Last modified
January 19, 2010.
Version 51.
History...
Clusters with 100%,
90%,
50% identity |
Documents (4) |
Third-party data |
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Names and origin
| Protein names | Recommended name: Cytochrome P450 4A22 Alternative name(s): CYPIVA22 Lauric acid omega-hydroxylase EC=1.14.15.3 Fatty acid omega-hydroxylase | ||
| Gene names |
| ||
| Organism | Homo sapiens (Human) [Complete proteome] | ||
| Taxonomic identifier | 9606 [NCBI] | ||
| Taxonomic lineage | Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo |
Protein attributes
| Sequence length | 519 AA. |
| Sequence status | Complete. |
| Sequence processing | The displayed sequence is further processed into a mature form. |
| Protein existence | Evidence at protein level. |
General annotation (Comments)
| Function | Catalyzes the omega- and (omega-1)-hydroxylation of various fatty acids such as laurate and palmitate. Shows no activity towards arachidonic acid and prostaglandin A1. Lacks functional activity in the kidney and does not contribute to renal 20-hydroxyeicosatetraenoic acid (20-HETE) biosynthesis. Ref.1 Ref.2 |
| Catalytic activity | Octane + reduced rubredoxin + O2 = 1-octanol + oxidized rubredoxin + H2O. |
| Subcellular location | Endoplasmic reticulum membrane; Peripheral membrane protein By similarity. Microsome membrane; Peripheral membrane protein By similarity. |
| Sequence similarities | Belongs to the cytochrome P450 family. |
| Caution | Was originally (Ref.1) termed CYP4A11. |
| Biophysicochemical properties | Kinetic parameters: Vmax:15.2 µmol/min/µmol enzyme. KM=56.7 µM for laurate |
Ontologies
| Keywords | |
|---|---|
| Cellular component | Endoplasmic reticulum Membrane Microsome |
| Coding sequence diversity | Alternative splicing Polymorphism |
| Ligand | Heme Iron Metal-binding |
| Molecular function | Monooxygenase Oxidoreductase |
| Technical term | Complete proteome |
| Gene Ontology (GO) | |
| Biological process | oxidation reduction Inferred from electronic annotation. Source: UniProtKB-KW |
| Cellular component | endoplasmic reticulum Inferred from electronic annotation. Source: UniProtKB-KW extrinsic to membraneInferred from electronic annotation. Source: UniProtKB-SubCell microsomeInferred from electronic annotation. Source: UniProtKB-KW |
| Molecular function | alkane 1-monooxygenase activity Inferred from electronic annotation. Source: EC electron carrier activityInferred from electronic annotation. Source: InterPro heme bindingInferred from electronic annotation. Source: InterPro |
| Complete GO annotation... | |
Alternative products
| This entry describes 2 isoforms produced by alternative splicing. [Align] [Select] | ||||||
| Isoform 1 (identifier: Q5TCH4-1) This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry. | ||||||
| Isoform 2 (identifier: Q5TCH4-2) The sequence of this isoform differs from the canonical sequence as follows: 356-519: Missing. |
Sequence annotation (Features)
| Feature key | Position(s) | Length | Description | Graphical view | Feature identifier | ||||
Molecule processing | |||||||||
|---|---|---|---|---|---|---|---|---|---|
| Propeptide | 1 – 4 | 4 | By similarity | PRO_0000343408 | |||||
| Chain | 5 – 519 | 515 | Cytochrome P450 4A22 | PRO_0000343409 | |||||
Regions | |||||||||
| Compositional bias | 24 – 31 | 8 | Poly-Leu | ||||||
| Compositional bias | 131 – 134 | 4 | Poly-Leu | ||||||
Sites | |||||||||
| Metal binding | 457 | 1 | Iron (heme axial ligand) By similarity | ||||||
| Binding site | 321 | 1 | Heme (covalent; via 1 link) By similarity | ||||||
Natural variations | |||||||||
| Alternative sequence | 356 – 519 | 164 | Missing in isoform 2. | VSP_034584 | |||||
| Natural variant | 11 | 1 | R → C in allele CYP4A22*2 and CYP4A22*3. Ref.5 | VAR_044349 | |||||
| Natural variant | 104 | 1 | Y → F: dbSNP rs61507155. | VAR_061045 | |||||
| Natural variant | 121 | 1 | K → R: dbSNP rs2758717. Ref.1 | VAR_044350 | |||||
| Natural variant | 126 | 1 | R → W in allele CYP4A22*8, allele CYP4A22*9, allele CYP4A22*11, allele CYP4A22*12, allele CYP4A22*13, allele CYP4A22*14 and allele CYP4A22*15. dbSNP rs12564525. Ref.2 Ref.5 | VAR_044351 | |||||
| Natural variant | 130 | 1 | G → S in allele CYP4A22*4, allele CYP4A22*10, allele CYP4A22*12, allele CYP4A22*13, allele CYP4A22*14 and allele CYP4A22*15. dbSNP rs2056900. Ref.2 Ref.5 | VAR_044352 | |||||
| Natural variant | 152 | 1 | N → Y in allele CYP4A22*2, allele CYP4A22*3, allele CYP4A22*4, allele CYP4A22*5, allele CYP4A22*6, allele CYP4A22*7, allele CYP4A22*8, allele CYP4A22*9, allele CYP4A22*10, allele CYP4A22*11, allele CYP4A22*12, allele CYP4A22*13, allele CYP4A22*14 and allele CYP4A22*15. dbSNP rs2056899. Ref.2 Ref.5 | VAR_044353 | |||||
| Natural variant | 185 | 1 | V → F in allele CYP4A22*10, allele CYP4A22*11, allele CYP4A22*12, allele CYP4A22*13, allele CYP4A22*14 and allele CYP4A22*15. Ref.5 | VAR_044354 | |||||
| Natural variant | 226 | 1 | S → N: dbSNP rs35202523. Ref.2 | VAR_044355 | |||||
| Natural variant | 230 | 1 | C → S: dbSNP rs35156123. Ref.2 | VAR_044356 | |||||
| Natural variant | 231 | 1 | C → R Allele CYP4A22*2, allele CYP4A22*3, allele CYP4A22*4, allele CYP4A22*5, allele CYP4A22*6, allele CYP4A22*7, allele CYP4A22*8, allele CYP4A22*9, allele CYP4A22*10, allele CYP4A22*11, allele CYP4A22*12, allele CYP4A22*13, allele CYP4A22*14 and allele CYP4A22*15. dbSNP rs10789501. Ref.2 Ref.5 | VAR_044357 | |||||
| Natural variant | 276 | 1 | K → T in allele CYP4A22*8, allele CYP4A22*11, allele CYP4A22*14 and allele CYP4A22*15. Ref.5 | VAR_044358 | |||||
| Natural variant | 428 | 1 | L → P in allele CYP4A22*6, allele CYP4A22*9, allele CYP4A22*10, allele CYP4A22*12, allele CYP4A22*13 and allele CYP4A22*15. dbSNP rs2405599. Ref.2 Ref.5 | VAR_044359 | |||||
| Natural variant | 491 | 1 | M → I: dbSNP rs2758714. Ref.1 | VAR_044360 | |||||
| Natural variant | 509 | 1 | L → F in allele CYP4A22*7, allele CYP4A22*10, allele CYP4A22*11, allele CYP4A22*13, allele CYP4A22*14 and allele CYP4A22*15. dbSNP rs4926600. Ref.2 Ref.5 | VAR_044361 | |||||
Experimental info | |||||||||
| Sequence conflict | 2 | 1 | S → A in AAQ21368. Ref.2 | ||||||
| Sequence conflict | 114 | 1 | P → S in AAQ21368. Ref.2 | ||||||
| Sequence conflict | 225 | 1 | N → S in AAQ21368. Ref.2 | ||||||
| Sequence conflict | 232 | 1 | M → V in AAQ21367. Ref.2 | ||||||
| Sequence conflict | 238 | 1 | E → Q in AAQ21367. Ref.2 | ||||||
| Sequence conflict | 241 | 1 | T → A in AAQ21368. Ref.2 | ||||||
| Sequence conflict | 353 | 1 | G → S in AAQ21367. Ref.2 | ||||||
| Sequence conflict | 434 | 1 | S → F in AAQ21367. Ref.2 | ||||||
| Sequence conflict | 487 | 1 | I → T in AAQ21367. Ref.2 | ||||||
Sequences
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References
| « Hide 'large scale' references | |
| [1] | "Human fatty acid omega-hydroxylase, CYP4A11: determination of complete genomic sequence and characterization of purified recombinant protein." Kawashima H., Naganuma T., Kusunose E., Kono T., Yasumoto R., Sugimura K., Kishimoto T. Arch. Biochem. Biophys. 378:333-339(2000) [PubMed: 10860550] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA] (ISOFORM 1), FUNCTION, BIOPHYSICOCHEMICAL PROPERTIES, VARIANTS ARG-121 AND ILE-491. |
| [2] | "Functional variant of CYP4A11 20-hydroxyeicosatetraenoic acid synthase is associated with essential hypertension." Gainer J.V., Bellamine A., Dawson E.P., Womble K.E., Grant S.W., Wang Y., Cupples L.A., Guo C.-Y., Demissie S., O'Donnell C.J., Brown N.J., Waterman M.R., Capdevila J.H. Circulation 111:63-69(2005) [PubMed: 15611369] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), FUNCTION, VARIANTS TRP-126; SER-130; TYR-152; ASN-226; SER-230; ARG-231; PRO-428 AND PHE-509. Tissue: Kidney and Liver. |
| [3] | "The DNA sequence and biological annotation of human chromosome 1." Gregory S.G., Barlow K.F., McLay K.E., Kaul R., Swarbreck D., Dunham A., Scott C.E., Howe K.L., Woodfine K., Spencer C.C.A., Jones M.C., Gillson C., Searle S., Zhou Y., Kokocinski F., McDonald L., Evans R., Phillips K. Bentley D.R.Nature 441:315-321(2006) [PubMed: 16710414] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA]. |
| [4] | "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)." The MGC Project Team Genome Res. 14:2121-2127(2004) [PubMed: 15489334] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1). |
| [5] | "Genetic polymorphisms and haplotype structures of the CYP4A22 gene in a Japanese population." Hiratsuka M., Nozawa H., Katsumoto Y., Moteki T., Sasaki T., Konno Y., Mizugaki M. Mutat. Res. 599:98-104(2006) [PubMed: 16806293] [Abstract] Cited for: VARIANTS CYS-11; TRP-126; SER-130; TYR-152; PHE-185; ARG-231; THR-276; PRO-428 AND PHE-509. |
| + | Additional computationally mapped references. |
Cross-references
Sequence databases | |
|---|---|
| EMBL GenBank DDBJ | AF208532 Genomic DNA. Translation: AAF76722.1. AY280371 mRNA. Translation: AAQ21367.1. AY280372 mRNA. Translation: AAQ21368.1. AL135960 Genomic DNA. Translation: CAI19737.1. AL135960 Genomic DNA. Translation: CAI19738.1. BC148248 mRNA. Translation: AAI48249.1. |
| IPI | IPI00429358. IPI00647932. |
| RefSeq | NP_001010969.2. |
| UniGene | Hs.1645 Hs.714775 |
3D structure databases | |
| HSSP | HSSP built from PDB template 1W0F based on UniProtKB P08684. |
| ModBase | Search... |
Protein-protein interaction databases | |
| STRING | Q5TCH4. |
Proteomic databases | |
| PRIDE | Q5TCH4. |
Genome annotation databases | |
| Ensembl | ENST00000371891; ENSP00000360958; ENSG00000162365; Homo sapiens. [Genome view] |
| GeneID | 284541. |
| KEGG | hsa:284541. |
| UCSC | uc001cqv.1. human. uc009vyo.1. human. |
Organism-specific databases | |
| CTD | 284541. |
| GeneCards | GC01P047314. GC01P047375. |
| HGNC | HGNC:20575. CYP4A22. |
| PharmGKB | PA134979692. |
| GenAtlas | Search... |
Phylogenomic databases | |
| HOGENOM | HBG505954. |
| HOVERGEN | Q5TCH4. |
| InParanoid | Q5TCH4. |
| OMA | RNAFHEN. |
| OrthoDB | EOG9XWJH2. |
| PhylomeDB | Q5TCH4. |
Enzyme and pathway databases | |
| Reactome | REACT_602. Metabolism of lipids and lipoproteins. |
Gene expression databases | |
| ArrayExpress | Q5TCH4. |
| Bgee | Q5TCH4. |
| Genevestigator | Q5TCH4. |
Family and domain databases | |
| InterPro | IPR001128. Cyt_P450. IPR017973. Cyt_P450_C. IPR017972. Cyt_P450_CS. IPR002401. Cyt_P450_E_grp-I. [Graphical view] |
| Gene3D | G3DSA:1.10.630.10. Cyt_P450. 1 hit. |
| PANTHER | PTHR19383. Cyt_P450. 1 hit. |
| Pfam | PF00067. p450. 1 hit. [Graphical view] |
| PRINTS | PR00463. EP450I. PR00385. P450. |
| PROSITE | PS00086. CYTOCHROME_P450. 1 hit. [Graphical view] |
| ProtoNet | Search... |
Other Resources | |
| NextBio | 94950. |
Entry information
| Entry name | CP4AM_HUMAN | ||||||||
| Accession | Primary (citable) accession number: Q5TCH4 Secondary accession number(s): Q5TCH3 Q9NRM4 | ||||||||
| Entry history |
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| Entry status | Reviewed (UniProtKB/Swiss-Prot) | ||||||||
| Annotation project | HPI (Human Proteome Initiative) | ||||||||
| Disclaimer | Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care. | ||||||||
Relevant documents
| Human chromosome 1 Human chromosome 1: entries, gene names and cross-references to MIM |
| Human entries with polymorphisms or disease mutations List of human entries with polymorphisms or disease mutations |
| Human polymorphisms and disease mutations Index of human polymorphisms and disease mutations |
| SIMILARITY comments Index of protein domains and families |

Clusters with


