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Q7Z449

- CP2U1_HUMAN

UniProt

Q7Z449 - CP2U1_HUMAN

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Protein

Cytochrome P450 2U1

Gene

CYP2U1

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli

Functioni

Catalyzes the hydroxylation of arachidonic acid, docosahexaenoic acid and other long chain fatty acids. May modulate the arachidonic acid signaling pathway and play a role in other fatty acid signaling processes.1 Publication

Catalytic activityi

RH + reduced flavoprotein + O2 = ROH + oxidized flavoprotein + H2O.

Cofactori

Heme group.By similarity

Kineticsi

  1. KM=2.7 µM for arachidonic acid

Sites

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Metal bindingi490 – 4901Iron (heme axial ligand)By similarity

GO - Molecular functioni

  1. aromatase activity Source: UniProtKB-EC
  2. heme binding Source: InterPro
  3. iron ion binding Source: InterPro

GO - Biological processi

  1. arachidonic acid metabolic process Source: Reactome
  2. cell death Source: UniProtKB-KW
  3. omega-hydroxylase P450 pathway Source: Reactome
  4. small molecule metabolic process Source: Reactome
  5. xenobiotic metabolic process Source: Reactome
Complete GO annotation...

Keywords - Molecular functioni

Monooxygenase, Oxidoreductase

Keywords - Ligandi

Heme, Iron, Metal-binding, NADP

Enzyme and pathway databases

ReactomeiREACT_13425. Miscellaneous substrates.
REACT_150134. Synthesis of (16-20)-hydroxyeicosatetraenoic acids (HETE).
SABIO-RKQ7Z449.

Names & Taxonomyi

Protein namesi
Recommended name:
Cytochrome P450 2U1 (EC:1.14.14.1)
Gene namesi
Name:CYP2U1
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
ProteomesiUP000005640: Chromosome 4

Organism-specific databases

HGNCiHGNC:20582. CYP2U1.

Subcellular locationi

Endoplasmic reticulum membrane 1 Publication; Multi-pass membrane protein 1 Publication. Microsome membrane 1 Publication

GO - Cellular componenti

  1. endoplasmic reticulum membrane Source: Reactome
  2. integral component of membrane Source: UniProtKB-KW
Complete GO annotation...

Keywords - Cellular componenti

Endoplasmic reticulum, Membrane, Microsome

Pathology & Biotechi

Involvement in diseasei

Spastic paraplegia 56, autosomal recessive (SPG56) [MIM:615030]: A form of spastic paraplegia, a neurodegenerative disorder characterized by a slow, gradual, progressive weakness and spasticity of the lower limbs. Rate of progression and the severity of symptoms are quite variable. Initial symptoms may include difficulty with balance, weakness and stiffness in the legs, muscle spasms, and dragging the toes when walking. Complicated forms are recognized by additional variable features including spastic quadriparesis, seizures, dementia, amyotrophy, extrapyramidal disturbance, cerebral or cerebellar atrophy, optic atrophy, and peripheral neuropathy, as well as by extra neurological manifestations. In SPG56, upper limbs are often also affected. Some SPG56 patients may have a subclinical axonal neuropathy.1 Publication
Note: The disease is caused by mutations affecting the gene represented in this entry.
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti262 – 2621C → R in SPG56. 1 Publication
VAR_069575
Natural varianti316 – 3161D → V in SPG56. 1 Publication
VAR_069576
Natural varianti380 – 3801E → G in SPG56. 1 Publication
VAR_069577
Natural varianti488 – 4881R → W in SPG56. 1 Publication
VAR_069578

Keywords - Diseasei

Disease mutation, Hereditary spastic paraplegia, Neurodegeneration

Organism-specific databases

MIMi615030. phenotype.
Orphaneti320411. Autosomal recessive spastic paraplegia type 56.
PharmGKBiPA134924269.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 544544Cytochrome P450 2U1PRO_0000291756Add
BLAST

Proteomic databases

MaxQBiQ7Z449.
PaxDbiQ7Z449.
PRIDEiQ7Z449.

PTM databases

PhosphoSiteiQ7Z449.

Expressioni

Tissue specificityi

Widely expressed with stronger expression in thymus, heart and cerebellum.3 Publications

Developmental stagei

Expressed in fetal thymus.2 Publications

Gene expression databases

BgeeiQ7Z449.
CleanExiHS_CYP2U1.
ExpressionAtlasiQ7Z449. baseline and differential.
GenevestigatoriQ7Z449.

Organism-specific databases

HPAiHPA041622.
HPA046754.

Interactioni

Protein-protein interaction databases

IntActiQ7Z449. 1 interaction.
STRINGi9606.ENSP00000333212.

Structurei

3D structure databases

ProteinModelPortaliQ7Z449.
SMRiQ7Z449. Positions 59-539.
ModBaseiSearch...
MobiDBiSearch...

Transmembrane

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Transmembranei30 – 5021HelicalSequence AnalysisAdd
BLAST
Transmembranei113 – 13321HelicalSequence AnalysisAdd
BLAST
Transmembranei261 – 28121HelicalSequence AnalysisAdd
BLAST
Transmembranei342 – 36221HelicalSequence AnalysisAdd
BLAST
Transmembranei495 – 51521HelicalSequence AnalysisAdd
BLAST

Family & Domainsi

Sequence similaritiesi

Belongs to the cytochrome P450 family.Curated

Keywords - Domaini

Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiCOG2124.
GeneTreeiENSGT00760000118775.
HOGENOMiHOG000036991.
HOVERGENiHBG015789.
InParanoidiQ7Z449.
KOiK07422.
OMAiNTGKVLQ.
OrthoDBiEOG7RBZ85.
PhylomeDBiQ7Z449.
TreeFamiTF352043.

Family and domain databases

Gene3Di1.10.630.10. 1 hit.
InterProiIPR001128. Cyt_P450.
IPR017972. Cyt_P450_CS.
IPR002401. Cyt_P450_E_grp-I.
IPR008069. Cyt_P450_E_grp-I_CYP2D-like.
[Graphical view]
PfamiPF00067. p450. 1 hit.
[Graphical view]
PRINTSiPR00463. EP450I.
PR01686. EP450ICYP2D.
PR00385. P450.
SUPFAMiSSF48264. SSF48264. 1 hit.
PROSITEiPS00086. CYTOCHROME_P450. 1 hit.
[Graphical view]

Sequences (2)i

Sequence statusi: Complete.

This entry describes 2 isoformsi produced by alternative splicing. Align

Isoform 1 (identifier: Q7Z449-1) [UniParc]FASTAAdd to Basket

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.

« Hide

        10         20         30         40         50
MSSPGPSQPP AEDPPWPARL LRAPLGLLRL DPSGGALLLC GLVALLGWSW
60 70 80 90 100
LRRRRARGIP PGPTPWPLVG NFGHVLLPPF LRRRSWLSSR TRAAGIDPSV
110 120 130 140 150
IGPQVLLAHL ARVYGSIFSF FIGHYLVVVL SDFHSVREAL VQQAEVFSDR
160 170 180 190 200
PRVPLISIVT KEKGVVFAHY GPVWRQQRKF SHSTLRHFGL GKLSLEPKII
210 220 230 240 250
EEFKYVKAEM QKHGEDPFCP FSIISNAVSN IICSLCFGQR FDYTNSEFKK
260 270 280 290 300
MLGFMSRGLE ICLNSQVLLV NICPWLYYLP FGPFKELRQI EKDITSFLKK
310 320 330 340 350
IIKDHQESLD RENPQDFIDM YLLHMEEERK NNSNSSFDEE YLFYIIGDLF
360 370 380 390 400
IAGTDTTTNS LLWCLLYMSL NPDVQEKVHE EIERVIGANR APSLTDKAQM
410 420 430 440 450
PYTEATIMEV QRLTVVVPLA IPHMTSENTV LQGYTIPKGT LILPNLWSVH
460 470 480 490 500
RDPAIWEKPE DFYPNRFLDD QGQLIKKETF IPFGIGKRVC MGEQLAKMEL
510 520 530 540
FLMFVSLMQS FAFALPEDSK KPLLTGRFGL TLAPHPFNIT ISRR
Length:544
Mass (Da):61,987
Last modified:October 1, 2003 - v1
Checksum:i01A0729318605770
GO
Isoform 2 (identifier: Q7Z449-2) [UniParc]FASTAAdd to Basket

The sequence of this isoform differs from the canonical sequence as follows:
     164-168: GVVFA → ELFQE
     169-544: Missing.

Note: No experimental confirmation available.

Show »
Length:168
Mass (Da):18,578
Checksum:i1155F0747E11BAFC
GO

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti262 – 2621C → R in SPG56. 1 Publication
VAR_069575
Natural varianti316 – 3161D → V in SPG56. 1 Publication
VAR_069576
Natural varianti380 – 3801E → G in SPG56. 1 Publication
VAR_069577
Natural varianti488 – 4881R → W in SPG56. 1 Publication
VAR_069578

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei164 – 1685GVVFA → ELFQE in isoform 2. 1 PublicationVSP_026222
Alternative sequencei169 – 544376Missing in isoform 2. 1 PublicationVSP_026223Add
BLAST

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
AY343323 mRNA. Translation: AAQ21380.1.
CH471057 Genomic DNA. Translation: EAX06216.1.
BC012027 mRNA. Translation: AAH12027.1.
BC132767 mRNA. Translation: AAI32768.1.
BC136483 mRNA. Translation: AAI36484.1.
CCDSiCCDS34047.1. [Q7Z449-1]
RefSeqiNP_898898.1. NM_183075.2. [Q7Z449-1]
UniGeneiHs.109087.

Genome annotation databases

EnsembliENST00000332884; ENSP00000333212; ENSG00000155016. [Q7Z449-1]
GeneIDi113612.
KEGGihsa:113612.
UCSCiuc003hyp.3. human. [Q7Z449-1]

Polymorphism databases

DMDMi74762432.

Keywords - Coding sequence diversityi

Alternative splicing

Cross-referencesi

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
AY343323 mRNA. Translation: AAQ21380.1 .
CH471057 Genomic DNA. Translation: EAX06216.1 .
BC012027 mRNA. Translation: AAH12027.1 .
BC132767 mRNA. Translation: AAI32768.1 .
BC136483 mRNA. Translation: AAI36484.1 .
CCDSi CCDS34047.1. [Q7Z449-1 ]
RefSeqi NP_898898.1. NM_183075.2. [Q7Z449-1 ]
UniGenei Hs.109087.

3D structure databases

ProteinModelPortali Q7Z449.
SMRi Q7Z449. Positions 59-539.
ModBasei Search...
MobiDBi Search...

Protein-protein interaction databases

IntActi Q7Z449. 1 interaction.
STRINGi 9606.ENSP00000333212.

PTM databases

PhosphoSitei Q7Z449.

Polymorphism databases

DMDMi 74762432.

Proteomic databases

MaxQBi Q7Z449.
PaxDbi Q7Z449.
PRIDEi Q7Z449.

Protocols and materials databases

DNASUi 113612.
Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000332884 ; ENSP00000333212 ; ENSG00000155016 . [Q7Z449-1 ]
GeneIDi 113612.
KEGGi hsa:113612.
UCSCi uc003hyp.3. human. [Q7Z449-1 ]

Organism-specific databases

CTDi 113612.
GeneCardsi GC04P108852.
H-InvDB HIX0024621.
HGNCi HGNC:20582. CYP2U1.
HPAi HPA041622.
HPA046754.
MIMi 610670. gene.
615030. phenotype.
neXtProti NX_Q7Z449.
Orphaneti 320411. Autosomal recessive spastic paraplegia type 56.
PharmGKBi PA134924269.
GenAtlasi Search...

Phylogenomic databases

eggNOGi COG2124.
GeneTreei ENSGT00760000118775.
HOGENOMi HOG000036991.
HOVERGENi HBG015789.
InParanoidi Q7Z449.
KOi K07422.
OMAi NTGKVLQ.
OrthoDBi EOG7RBZ85.
PhylomeDBi Q7Z449.
TreeFami TF352043.

Enzyme and pathway databases

Reactomei REACT_13425. Miscellaneous substrates.
REACT_150134. Synthesis of (16-20)-hydroxyeicosatetraenoic acids (HETE).
SABIO-RK Q7Z449.

Miscellaneous databases

GeneWikii CYP2U1.
GenomeRNAii 113612.
NextBioi 78874.
PROi Q7Z449.
SOURCEi Search...

Gene expression databases

Bgeei Q7Z449.
CleanExi HS_CYP2U1.
ExpressionAtlasi Q7Z449. baseline and differential.
Genevestigatori Q7Z449.

Family and domain databases

Gene3Di 1.10.630.10. 1 hit.
InterProi IPR001128. Cyt_P450.
IPR017972. Cyt_P450_CS.
IPR002401. Cyt_P450_E_grp-I.
IPR008069. Cyt_P450_E_grp-I_CYP2D-like.
[Graphical view ]
Pfami PF00067. p450. 1 hit.
[Graphical view ]
PRINTSi PR00463. EP450I.
PR01686. EP450ICYP2D.
PR00385. P450.
SUPFAMi SSF48264. SSF48264. 1 hit.
PROSITEi PS00086. CYTOCHROME_P450. 1 hit.
[Graphical view ]
ProtoNeti Search...

Publicationsi

« Hide 'large scale' publications
  1. "CYP2U1, a novel human thymus- and brain-specific cytochrome P450, catalyzes omega- and (omega-1)-hydroxylation of fatty acids."
    Chuang S.S., Helvig C., Taimi M., Ramshaw H.A., Collop A.H., Amad M., White J.A., Petkovich M., Jones G., Korczak B.
    J. Biol. Chem. 279:6305-6314(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), FUNCTION, SUBCELLULAR LOCATION, TISSUE SPECIFICITY, DEVELOPMENTAL STAGE.
    Tissue: Thymus.
  2. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  3. "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] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 1 AND 2).
    Tissue: Brain and Mammary gland.
  4. "Characterization and tissue distribution of a novel human cytochrome P450-CYP2U1."
    Karlgren M., Backlund M., Johansson I., Oscarson M., Ingelman-Sundberg M.
    Biochem. Biophys. Res. Commun. 315:679-685(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: TISSUE SPECIFICITY.
  5. "Expression patterns of mouse and human CYP orthologs (families 1-4) during development and in different adult tissues."
    Choudhary D., Jansson I., Stoilov I., Sarfarazi M., Schenkman J.B.
    Arch. Biochem. Biophys. 436:50-61(2005) [PubMed] [Europe PMC] [Abstract]
    Cited for: TISSUE SPECIFICITY, DEVELOPMENTAL STAGE.
  6. Cited for: VARIANTS SPG56 ARG-262; VAL-316; GLY-380 AND TRP-488.

Entry informationi

Entry nameiCP2U1_HUMAN
AccessioniPrimary (citable) accession number: Q7Z449
Secondary accession number(s): B2RMV7, Q96EQ6
Entry historyi
Integrated into UniProtKB/Swiss-Prot: June 26, 2007
Last sequence update: October 1, 2003
Last modified: October 29, 2014
This is version 113 of the entry and version 1 of the sequence. [Complete history]
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny 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.

Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. Human chromosome 4
    Human chromosome 4: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. SIMILARITY comments
    Index of protein domains and families

External Data

Dasty 3