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Q9HB55 (CP343_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified April 16, 2014. Version 126. 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·Web links·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended name:
Cytochrome P450 3A43

EC=1.14.14.1
Gene names
Name:CYP3A43
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length503 AA.
Sequence statusComplete.
Protein existenceEvidence at protein level

General annotation (Comments)

Function

Exhibits low testosterone 6-beta-hydroxylase activity.

Catalytic activity

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

Cofactor

Heme group By similarity.

Subcellular location

Endoplasmic reticulum membrane; Peripheral membrane protein. Microsome membrane; Peripheral membrane protein.

Tissue specificity

Highest expression level in prostate. Also expressed in liver, kidney, pancreas, fetal liver and fetal skeletal muscle. Ref.1 Ref.2

Induction

By rifampicin.

Polymorphism

At protein level, three alleles are known: CYP3A43*1, CYP3A43*2 and CYP3A43*3. The sequence shown is that of CYP3A43*1, which is the most frequent allele. The allele CYP3A43*2 is likely to be non-functional.

Miscellaneous

Chimeric transcripts, characterized by CYP3A43 exon 1 joined at canonical splice sites to distinct sets of CYP3A4 or CYP3A5 exons, have been detected. All are possibly produced by trans-splicing. CYP3A43-CYP3A4 chimeric transcripts exist in 3 different combinations: CYP3A43 exon 1 joined in frame to CYP3A4 exons 2-13, CYP3A43 exon 1 joined in frame to CYP3A4 exons 4-13 and CYP3A43 exon 1 joined in frame to CYP3A4 exon 7-13. The longest chimeric isoform (CYP3A43exon 1 joined to CYP3A4 exons 2-13) exhibits 6-beta-hydroxylase activity, while a shorter isoform (CYP3A43exon 1 joined to CYP3A4 exons 4-13) does not. CYP3A43-CYP3A5 chimeric transcripts exist in 2 different combinations: CYP3A43 exon 1 joined in frame to CYP3A5 exon 11-13 and CYP3A43 exon 1 joined in frame to CYP3A5 exon 12-13. All chimeric transcripts are expressed at very low levels in the liver (Ref.7).

Sequence similarities

Belongs to the cytochrome P450 family.

Alternative products

This entry describes 4 isoforms produced by alternative splicing. [Align] [Select]

Note: Additional isoforms seem to exist.
Isoform 1 (identifier: Q9HB55-1)

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: Q9HB55-2)

The sequence of this isoform differs from the canonical sequence as follows:
     417-417: E → ES
Isoform 3 (identifier: Q9HB55-3)

The sequence of this isoform differs from the canonical sequence as follows:
     419-420: FS → SH
     421-503: Missing.
Isoform 4 (identifier: Q9HB55-4)

The sequence of this isoform differs from the canonical sequence as follows:
     224-250: SLFPFLTPVFEALNIGLFPKDVTHFLK → YRVSLCCLGRSAWCDLGSLKPPPPGFE
     251-503: Missing.
Note: May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay.

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 503503Cytochrome P450 3A43
PRO_0000051814

Sites

Metal binding4421Iron (heme axial ligand) By similarity

Natural variations

Alternative sequence224 – 25027SLFPF…THFLK → YRVSLCCLGRSAWCDLGSLK PPPPGFE in isoform 4.
VSP_000612
Alternative sequence251 – 503253Missing in isoform 4.
VSP_000613
Alternative sequence4171E → ES in isoform 2.
VSP_000609
Alternative sequence419 – 4202FS → SH in isoform 3.
VSP_000610
Alternative sequence421 – 50383Missing in isoform 3.
VSP_000611
Natural variant25 – 8864YGTHS…IMDPD → LGPIHINFLRSWEFLGQPLC LFWELFCSTLGVFGILTENV MKNTEKCGGCMRGNSPCWSS WIPT in allele CYP3A43*2.
VAR_018050
Natural variant271T → A.
Corresponds to variant rs45558032 [ dbSNP | Ensembl ].
VAR_048449
Natural variant89 – 503415Missing in allele CYP3A43*2.
VAR_018051
Natural variant1451M → I.
Corresponds to variant rs45450092 [ dbSNP | Ensembl ].
VAR_048450
Natural variant2751M → I.
Corresponds to variant rs45621431 [ dbSNP | Ensembl ].
VAR_048451
Natural variant3401P → A in allele CYP3A43*3. Ref.4
Corresponds to variant rs680055 [ dbSNP | Ensembl ].
VAR_018052

Sequences

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

Last modified March 1, 2001. Version 1.
Checksum: 2C585B9DC573F634

FASTA50357,670
        10         20         30         40         50         60 
MDLIPNFAME TWVLVATSLV LLYIYGTHSH KLFKKLGIPG PTPLPFLGTI LFYLRGLWNF 

        70         80         90        100        110        120 
DRECNEKYGE MWGLYEGQQP MLVIMDPDMI KTVLVKECYS VFTNQMPLGP MGFLKSALSF 

       130        140        150        160        170        180 
AEDEEWKRIR TLLSPAFTSV KFKEMVPIIS QCGDMLVRSL RQEAENSKSI NLKDFFGAYT 

       190        200        210        220        230        240 
MDVITGTLFG VNLDSLNNPQ DPFLKNMKKL LKLDFLDPFL LLISLFPFLT PVFEALNIGL 

       250        260        270        280        290        300 
FPKDVTHFLK NSIERMKESR LKDKQKHRVD FFQQMIDSQN SKETKSHKAL SDLELVAQSI 

       310        320        330        340        350        360 
IIIFAAYDTT STTLPFIMYE LATHPDVQQK LQEEIDAVLP NKAPVTYDAL VQMEYLDMVV 

       370        380        390        400        410        420 
NETLRLFPVV SRVTRVCKKD IEINGVFIPK GLAVMVPIYA LHHDPKYWTE PEKFCPERFS 

       430        440        450        460        470        480 
KKNKDSIDLY RYIPFGAGPR NCIGMRFALT NIKLAVIRAL QNFSFKPCKE TQIPLKLDNL 

       490        500 
PILQPEKPIV LKVHLRDGIT SGP 

« Hide

Isoform 2 [UniParc].

Checksum: CB87C6873DAB7B0D
Show »

FASTA50457,757
Isoform 3 [UniParc].

Checksum: 60873437189BA207
Show »

FASTA42048,304
Isoform 4 [UniParc].

Checksum: 858527154F617A06
Show »

FASTA25028,490

References

« Hide 'large scale' references
[1]"cDNA cloning and initial characterization of CYP3A43, a novel human cytochrome P450."
Domanski T.L., Finta C., Halpert J.R., Zaphiropoulos P.G.
Mol. Pharmacol. 59:386-392(2001) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), TISSUE SPECIFICITY, CHARACTERIZATION.
[2]"Cloning and tissue distribution of a novel human cytochrome P450 of the CYP3A subfamily, CYP3A43."
Westlind A., Malmebo S., Johansson I., Otter C., Andersson T.B., Ingelman-Sundberg M., Oscarson M.
Biochem. Biophys. Res. Commun. 281:1349-1355(2001) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), TISSUE SPECIFICITY.
[3]"Genomic organization of the human CYP3A locus: identification of a new, inducible CYP3A gene."
Gellner K., Eiselt R., Hustert E., Arnold H., Koch I., Haberl M., Deglmann C.J., Burk O., Buntefuss D., Escher S., Bishop C., Koebe H.-G., Brinkmann U., Klenk H.-P., Kleine K., Meyer U.A., Wojnowski L.
Pharmacogenetics 11:111-121(2001) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA / MRNA], ALTERNATIVE SPLICING.
Tissue: Liver.
[4]"First report of a genetic polymorphism of the cytochrome P450 3A43 (CYP3A43) gene: identification of a loss-of-function variant."
Cauffiez C., Lo-Guidice J.-M., Chevalier D., Allorge D., Hamdan R., Lhermitte M., Lafitte J.-J., Colombel J.-F., Libersa C., Broly F.
Hum. Mutat. 23:101-101(2004) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ALLELE CYP3A43*2), VARIANT CYP3A43*3 ALA-340.
[5]"The DNA sequence of human chromosome 7."
Hillier L.W., Fulton R.S., Fulton L.A., Graves T.A., Pepin K.H., Wagner-McPherson C., Layman D., Maas J., Jaeger S., Walker R., Wylie K., Sekhon M., Becker M.C., O'Laughlin M.D., Schaller M.E., Fewell G.A., Delehaunty K.D., Miner T.L. expand/collapse author list , Nash W.E., Cordes M., Du H., Sun H., Edwards J., Bradshaw-Cordum H., Ali J., Andrews S., Isak A., Vanbrunt A., Nguyen C., Du F., Lamar B., Courtney L., Kalicki J., Ozersky P., Bielicki L., Scott K., Holmes A., Harkins R., Harris A., Strong C.M., Hou S., Tomlinson C., Dauphin-Kohlberg S., Kozlowicz-Reilly A., Leonard S., Rohlfing T., Rock S.M., Tin-Wollam A.-M., Abbott A., Minx P., Maupin R., Strowmatt C., Latreille P., Miller N., Johnson D., Murray J., Woessner J.P., Wendl M.C., Yang S.-P., Schultz B.R., Wallis J.W., Spieth J., Bieri T.A., Nelson J.O., Berkowicz N., Wohldmann P.E., Cook L.L., Hickenbotham M.T., Eldred J., Williams D., Bedell J.A., Mardis E.R., Clifton S.W., Chissoe S.L., Marra M.A., Raymond C., Haugen E., Gillett W., Zhou Y., James R., Phelps K., Iadanoto S., Bubb K., Simms E., Levy R., Clendenning J., Kaul R., Kent W.J., Furey T.S., Baertsch R.A., Brent M.R., Keibler E., Flicek P., Bork P., Suyama M., Bailey J.A., Portnoy M.E., Torrents D., Chinwalla A.T., Gish W.R., Eddy S.R., McPherson J.D., Olson M.V., Eichler E.E., Green E.D., Waterston R.H., Wilson R.K.
Nature 424:157-164(2003) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[6]Mural R.J., Istrail S., Sutton 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 (SEP-2005) to the EMBL/GenBank/DDBJ databases
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[7]"Intergenic mRNA molecules resulting from trans-splicing."
Finta C., Zaphiropoulos P.G.
J. Biol. Chem. 277:5882-5890(2002) [PubMed] [Europe PMC] [Abstract]
Cited for: TRANS-SPLICING.
[8]"An unappreciated role for RNA surveillance."
Hillman R.T., Green R.E., Brenner S.E.
Genome Biol. 5:R8.1-R8.16(2004) [PubMed] [Europe PMC] [Abstract]
Cited for: SPLICE ISOFORM(S) THAT ARE POTENTIAL NMD TARGET(S).
+Additional computationally mapped references.

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
AF319634 mRNA. Translation: AAK00325.1.
AF337813 mRNA. Translation: AAK38841.1.
AF280107 Genomic DNA. Translation: AAG32291.1.
AF280108 mRNA. Translation: AAG33009.1.
AF280109 mRNA. Translation: AAG33010.1.
AF280110 mRNA. Translation: AAG33011.1.
AF280111 mRNA. Translation: AAG33012.1.
AY390423 mRNA. Translation: AAQ92351.1.
AY390424 mRNA. Translation: AAQ92352.1.
AY390425 mRNA. Translation: AAQ92353.1.
AY390426 mRNA. Translation: AAQ92354.1.
AC011904 Genomic DNA. Translation: AAS07394.1.
CH471091 Genomic DNA. Translation: EAW76634.1.
PIRJC7627.
RefSeqNP_001265850.1. NM_001278921.1.
NP_073731.1. NM_022820.4.
NP_476436.1. NM_057095.2.
NP_476437.1. NM_057096.3.
UniGeneHs.306220.
Hs.571258.
Hs.728751.

3D structure databases

ProteinModelPortalQ9HB55.
SMRQ9HB55. Positions 28-498.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

STRING9606.ENSP00000222382.

Chemistry

BindingDBQ9HB55.
ChEMBLCHEMBL2364675.
DrugBankDB00341. Cetirizine.
DB00254. Doxycycline.

PTM databases

PhosphoSiteQ9HB55.

Polymorphism databases

DMDM20137481.

Proteomic databases

PaxDbQ9HB55.
PRIDEQ9HB55.

Protocols and materials databases

StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000222382; ENSP00000222382; ENSG00000021461. [Q9HB55-2]
ENST00000312017; ENSP00000312110; ENSG00000021461. [Q9HB55-3]
ENST00000354829; ENSP00000346887; ENSG00000021461. [Q9HB55-1]
ENST00000434806; ENSP00000411653; ENSG00000021461. [Q9HB55-4]
GeneID64816.
KEGGhsa:64816.
UCSCuc003urx.1. human. [Q9HB55-1]
uc003ury.1. human. [Q9HB55-2]
uc003urz.1. human. [Q9HB55-3]

Organism-specific databases

CTD64816.
GeneCardsGC07P099426.
H-InvDBHIX0033547.
HGNCHGNC:17450. CYP3A43.
MIM606534. gene.
neXtProtNX_Q9HB55.
PharmGKBPA427.
GenAtlasSearch...

Phylogenomic databases

eggNOGCOG2124.
HOGENOMHOG000039127.
HOVERGENHBG108567.
KOK17692.
OMACPESRFS.
OrthoDBEOG744TBS.
PhylomeDBQ9HB55.
TreeFamTF105087.

Enzyme and pathway databases

ReactomeREACT_111217. Metabolism.

Gene expression databases

ArrayExpressQ9HB55.
BgeeQ9HB55.
CleanExHS_CYP3A43.
GenevestigatorQ9HB55.

Family and domain databases

Gene3D1.10.630.10. 1 hit.
InterProIPR001128. Cyt_P450.
IPR017972. Cyt_P450_CS.
IPR008072. Cyt_P450_E_CYP3A.
IPR002402. Cyt_P450_E_grp-II.
[Graphical view]
PfamPF00067. p450. 1 hit.
[Graphical view]
PRINTSPR00464. EP450II.
PR01689. EP450IICYP3A.
PR00385. P450.
SUPFAMSSF48264. SSF48264. 1 hit.
PROSITEPS00086. CYTOCHROME_P450. 1 hit.
[Graphical view]
ProtoNetSearch...

Other

GeneWikiCYP3A43.
GenomeRNAi64816.
NextBio66908.
PROQ9HB55.
SOURCESearch...

Entry information

Entry nameCP343_HUMAN
AccessionPrimary (citable) accession number: Q9HB55
Secondary accession number(s): Q75MK2 expand/collapse secondary AC list , Q9HB52, Q9HB53, Q9HB54, Q9HB57
Entry history
Integrated into UniProtKB/Swiss-Prot: January 31, 2002
Last sequence update: March 1, 2001
Last modified: April 16, 2014
This is version 126 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 7

Human chromosome 7: entries, gene names and cross-references to MIM