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Q7Z449 (CP2U1_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified July 9, 2014. Version 110. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (5) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Alt products·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended name:
Cytochrome P450 2U1

EC=1.14.14.1
Gene names
Name:CYP2U1
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length544 AA.
Sequence statusComplete.
Protein existenceEvidence at protein level

General annotation (Comments)

Function

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. Ref.1

Catalytic activity

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

Cofactor

Heme group By similarity.

Subcellular location

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

Tissue specificity

Widely expressed with stronger expression in thymus, heart and cerebellum. Ref.1 Ref.4 Ref.5

Developmental stage

Expressed in fetal thymus. Ref.1 Ref.5

Involvement in disease

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.
Note: The disease is caused by mutations affecting the gene represented in this entry. Ref.6

Sequence similarities

Belongs to the cytochrome P450 family.

Biophysicochemical properties

Kinetic parameters:

KM=2.7 µM for arachidonic acid

Alternative products

This entry describes 2 isoforms produced by alternative splicing. [Align] [Select]
Isoform 1 (identifier: Q7Z449-1)

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: Q7Z449-2)

The sequence of this isoform differs from the canonical sequence as follows:
     164-168: GVVFA → ELFQE
     169-544: Missing.
Note: No experimental confirmation available.

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 544544Cytochrome P450 2U1
PRO_0000291756

Regions

Transmembrane30 – 5021Helical; Potential
Transmembrane113 – 13321Helical; Potential
Transmembrane261 – 28121Helical; Potential
Transmembrane342 – 36221Helical; Potential
Transmembrane495 – 51521Helical; Potential

Sites

Metal binding4901Iron (heme axial ligand) By similarity

Natural variations

Alternative sequence164 – 1685GVVFA → ELFQE in isoform 2.
VSP_026222
Alternative sequence169 – 544376Missing in isoform 2.
VSP_026223
Natural variant2621C → R in SPG56. Ref.6
VAR_069575
Natural variant3161D → V in SPG56. Ref.6
VAR_069576
Natural variant3801E → G in SPG56. Ref.6
VAR_069577
Natural variant4881R → W in SPG56. Ref.6
VAR_069578

Sequences

Sequence LengthMass (Da)Tools
Isoform 1 [UniParc].

Last modified October 1, 2003. Version 1.
Checksum: 01A0729318605770

FASTA54461,987
        10         20         30         40         50         60 
MSSPGPSQPP AEDPPWPARL LRAPLGLLRL DPSGGALLLC GLVALLGWSW LRRRRARGIP 

        70         80         90        100        110        120 
PGPTPWPLVG NFGHVLLPPF LRRRSWLSSR TRAAGIDPSV IGPQVLLAHL ARVYGSIFSF 

       130        140        150        160        170        180 
FIGHYLVVVL SDFHSVREAL VQQAEVFSDR PRVPLISIVT KEKGVVFAHY GPVWRQQRKF 

       190        200        210        220        230        240 
SHSTLRHFGL GKLSLEPKII EEFKYVKAEM QKHGEDPFCP FSIISNAVSN IICSLCFGQR 

       250        260        270        280        290        300 
FDYTNSEFKK MLGFMSRGLE ICLNSQVLLV NICPWLYYLP FGPFKELRQI EKDITSFLKK 

       310        320        330        340        350        360 
IIKDHQESLD RENPQDFIDM YLLHMEEERK NNSNSSFDEE YLFYIIGDLF IAGTDTTTNS 

       370        380        390        400        410        420 
LLWCLLYMSL NPDVQEKVHE EIERVIGANR APSLTDKAQM PYTEATIMEV QRLTVVVPLA 

       430        440        450        460        470        480 
IPHMTSENTV LQGYTIPKGT LILPNLWSVH RDPAIWEKPE DFYPNRFLDD QGQLIKKETF 

       490        500        510        520        530        540 
IPFGIGKRVC MGEQLAKMEL FLMFVSLMQS FAFALPEDSK KPLLTGRFGL TLAPHPFNIT 


ISRR 

« Hide

Isoform 2 [UniParc].

Checksum: 1155F0747E11BAFC
Show »

FASTA16818,578

References

« Hide 'large scale' references
[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]Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L., Mobarry C.M., Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R., Flanigan M.J., Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V., Hannenhalli S., Turner R. expand/collapse author list , Yooseph S., Lu F., Nusskern D.R., Shue B.C., Zheng X.H., Zhong F., Delcher A.L., Huson D.H., Kravitz S.A., Mouchard L., Reinert K., Remington K.A., Clark A.G., Waterman M.S., Eichler E.E., Adams M.D., Hunkapiller M.W., Myers E.W., Venter J.C.
Submitted (JUL-2005) to the EMBL/GenBank/DDBJ databases
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]"Alteration of fatty-acid-metabolizing enzymes affects mitochondrial form and function in hereditary spastic paraplegia."
Tesson C., Nawara M., Salih M.A., Rossignol R., Zaki M.S., Al Balwi M., Schule R., Mignot C., Obre E., Bouhouche A., Santorelli F.M., Durand C.M., Oteyza A.C., El-Hachimi K.H., Al Drees A., Bouslam N., Lamari F., Elmalik S.A. expand/collapse author list , Kabiraj M.M., Seidahmed M.Z., Esteves T., Gaussen M., Monin M.L., Gyapay G., Lechner D., Gonzalez M., Depienne C., Mochel F., Lavie J., Schols L., Lacombe D., Yahyaoui M., Al Abdulkareem I., Zuchner S., Yamashita A., Benomar A., Goizet C., Durr A., Gleeson J.G., Darios F., Brice A., Stevanin G.
Am. J. Hum. Genet. 91:1051-1064(2012) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANTS SPG56 ARG-262; VAL-316; GLY-380 AND TRP-488.
+Additional computationally mapped references.

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
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.
CCDSCCDS34047.1. [Q7Z449-1]
RefSeqNP_898898.1. NM_183075.2. [Q7Z449-1]
UniGeneHs.109087.

3D structure databases

ProteinModelPortalQ7Z449.
SMRQ7Z449. Positions 59-539.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

IntActQ7Z449. 1 interaction.
STRING9606.ENSP00000333212.

PTM databases

PhosphoSiteQ7Z449.

Polymorphism databases

DMDM74762432.

Proteomic databases

MaxQBQ7Z449.
PaxDbQ7Z449.
PRIDEQ7Z449.

Protocols and materials databases

DNASU113612.
StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000332884; ENSP00000333212; ENSG00000155016. [Q7Z449-1]
GeneID113612.
KEGGhsa:113612.
UCSCuc003hyp.3. human. [Q7Z449-1]

Organism-specific databases

CTD113612.
GeneCardsGC04P108852.
H-InvDBHIX0024621.
HGNCHGNC:20582. CYP2U1.
HPAHPA041622.
HPA046754.
MIM610670. gene.
615030. phenotype.
neXtProtNX_Q7Z449.
Orphanet320411. Autosomal recessive spastic paraplegia type 56.
PharmGKBPA134924269.
GenAtlasSearch...

Phylogenomic databases

eggNOGCOG2124.
HOGENOMHOG000036991.
HOVERGENHBG015789.
InParanoidQ7Z449.
KOK07422.
OMANTGKVLQ.
OrthoDBEOG7RBZ85.
PhylomeDBQ7Z449.
TreeFamTF352043.

Enzyme and pathway databases

ReactomeREACT_111217. Metabolism.
SABIO-RKQ7Z449.

Gene expression databases

ArrayExpressQ7Z449.
BgeeQ7Z449.
CleanExHS_CYP2U1.
GenevestigatorQ7Z449.

Family and domain databases

Gene3D1.10.630.10. 1 hit.
InterProIPR001128. Cyt_P450.
IPR017972. Cyt_P450_CS.
IPR002401. Cyt_P450_E_grp-I.
IPR008069. Cyt_P450_E_grp-I_CYP2D-like.
[Graphical view]
PfamPF00067. p450. 1 hit.
[Graphical view]
PRINTSPR00463. EP450I.
PR01686. EP450ICYP2D.
PR00385. P450.
SUPFAMSSF48264. SSF48264. 1 hit.
PROSITEPS00086. CYTOCHROME_P450. 1 hit.
[Graphical view]
ProtoNetSearch...

Other

GeneWikiCYP2U1.
GenomeRNAi113612.
NextBio78874.
PROQ7Z449.
SOURCESearch...

Entry information

Entry nameCP2U1_HUMAN
AccessionPrimary (citable) accession number: Q7Z449
Secondary accession number(s): B2RMV7, Q96EQ6
Entry history
Integrated into UniProtKB/Swiss-Prot: June 26, 2007
Last sequence update: October 1, 2003
Last modified: July 9, 2014
This is version 110 of the entry and version 1 of the sequence. [Complete history]
Entry statusReviewed (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.

Relevant documents

SIMILARITY comments

Index of protein domains and families

MIM cross-references

Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

Human polymorphisms and disease mutations

Index of human polymorphisms and disease mutations

Human entries with polymorphisms or disease mutations

List of human entries with polymorphisms or disease mutations

Human chromosome 4

Human chromosome 4: entries, gene names and cross-references to MIM