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Q9HB55

- CP343_HUMAN

UniProt

Q9HB55 - CP343_HUMAN

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Protein

Cytochrome P450 3A43

Gene
CYP3A43
Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5 - Experimental evidence at protein leveli

Functioni

Exhibits low testosterone 6-beta-hydroxylase activity.

Catalytic activityi

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

Cofactori

Heme group By similarity.

Sites

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Metal bindingi442 – 4421Iron (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
  4. monooxygenase activity Source: UniProtKB

GO - Biological processi

  1. small molecule metabolic process Source: Reactome
  2. xenobiotic metabolic process Source: Reactome
Complete GO annotation...

Keywords - Molecular functioni

Monooxygenase, Oxidoreductase

Keywords - Ligandi

Heme, Iron, Metal-binding

Enzyme and pathway databases

ReactomeiREACT_13425. Miscellaneous substrates.
REACT_13543. Xenobiotics.

Names & Taxonomyi

Protein namesi
Recommended name:
Cytochrome P450 3A43 (EC:1.14.14.1)
Gene namesi
Name:CYP3A43
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
ProteomesiUP000005640: Chromosome 7

Organism-specific databases

HGNCiHGNC:17450. CYP3A43.

Subcellular locationi

GO - Cellular componenti

  1. endoplasmic reticulum membrane Source: Reactome
Complete GO annotation...

Keywords - Cellular componenti

Endoplasmic reticulum, Membrane, Microsome

Pathology & Biotechi

Organism-specific databases

PharmGKBiPA427.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 503503Cytochrome P450 3A43PRO_0000051814Add
BLAST

Proteomic databases

PaxDbiQ9HB55.
PRIDEiQ9HB55.

PTM databases

PhosphoSiteiQ9HB55.

Expressioni

Tissue specificityi

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

Inductioni

By rifampicin.

Gene expression databases

ArrayExpressiQ9HB55.
BgeeiQ9HB55.
CleanExiHS_CYP3A43.
GenevestigatoriQ9HB55.

Interactioni

Protein-protein interaction databases

STRINGi9606.ENSP00000222382.

Structurei

3D structure databases

ProteinModelPortaliQ9HB55.
SMRiQ9HB55. Positions 28-498.

Family & Domainsi

Sequence similaritiesi

Belongs to the cytochrome P450 family.

Phylogenomic databases

eggNOGiCOG2124.
HOGENOMiHOG000039127.
HOVERGENiHBG108567.
KOiK17692.
OMAiCPESRFS.
OrthoDBiEOG744TBS.
PhylomeDBiQ9HB55.
TreeFamiTF105087.

Family and domain databases

Gene3Di1.10.630.10. 1 hit.
InterProiIPR001128. Cyt_P450.
IPR017972. Cyt_P450_CS.
IPR008072. Cyt_P450_E_CYP3A.
IPR002402. Cyt_P450_E_grp-II.
[Graphical view]
PfamiPF00067. p450. 1 hit.
[Graphical view]
PRINTSiPR00464. EP450II.
PR01689. EP450IICYP3A.
PR00385. P450.
SUPFAMiSSF48264. SSF48264. 1 hit.
PROSITEiPS00086. CYTOCHROME_P450. 1 hit.
[Graphical view]

Sequences (4)i

Sequence statusi: Complete.

This entry describes 4 isoformsi produced by alternative splicing. Align

Note: Additional isoforms seem to exist.

Isoform 1 (identifier: Q9HB55-1) [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

MDLIPNFAME TWVLVATSLV LLYIYGTHSH KLFKKLGIPG PTPLPFLGTI    50
LFYLRGLWNF DRECNEKYGE MWGLYEGQQP MLVIMDPDMI KTVLVKECYS 100
VFTNQMPLGP MGFLKSALSF AEDEEWKRIR TLLSPAFTSV KFKEMVPIIS 150
QCGDMLVRSL RQEAENSKSI NLKDFFGAYT MDVITGTLFG VNLDSLNNPQ 200
DPFLKNMKKL LKLDFLDPFL LLISLFPFLT PVFEALNIGL FPKDVTHFLK 250
NSIERMKESR LKDKQKHRVD FFQQMIDSQN SKETKSHKAL SDLELVAQSI 300
IIIFAAYDTT STTLPFIMYE LATHPDVQQK LQEEIDAVLP NKAPVTYDAL 350
VQMEYLDMVV NETLRLFPVV SRVTRVCKKD IEINGVFIPK GLAVMVPIYA 400
LHHDPKYWTE PEKFCPERFS KKNKDSIDLY RYIPFGAGPR NCIGMRFALT 450
NIKLAVIRAL QNFSFKPCKE TQIPLKLDNL PILQPEKPIV LKVHLRDGIT 500
SGP 503
Length:503
Mass (Da):57,670
Last modified:March 1, 2001 - v1
Checksum:i2C585B9DC573F634
GO
Isoform 2 (identifier: Q9HB55-2) [UniParc]FASTAAdd to Basket

The sequence of this isoform differs from the canonical sequence as follows:
     417-417: E → ES

Show »
Length:504
Mass (Da):57,757
Checksum:iCB87C6873DAB7B0D
GO
Isoform 3 (identifier: Q9HB55-3) [UniParc]FASTAAdd to Basket

The sequence of this isoform differs from the canonical sequence as follows:
     419-420: FS → SH
     421-503: Missing.

Show »
Length:420
Mass (Da):48,304
Checksum:i60873437189BA207
GO
Isoform 4 (identifier: Q9HB55-4) [UniParc]FASTAAdd to Basket

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.

Show »
Length:250
Mass (Da):28,490
Checksum:i858527154F617A06
GO

Polymorphismi

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.

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti25 – 8864YGTHS…IMDPD → LGPIHINFLRSWEFLGQPLC LFWELFCSTLGVFGILTENV MKNTEKCGGCMRGNSPCWSS WIPT in allele CYP3A43*2.
VAR_018050Add
BLAST
Natural varianti27 – 271T → A.
Corresponds to variant rs45558032 [ dbSNP | Ensembl ].
VAR_048449
Natural varianti89 – 503415Missing in allele CYP3A43*2.
VAR_018051Add
BLAST
Natural varianti145 – 1451M → I.
Corresponds to variant rs45450092 [ dbSNP | Ensembl ].
VAR_048450
Natural varianti275 – 2751M → I.
Corresponds to variant rs45621431 [ dbSNP | Ensembl ].
VAR_048451
Natural varianti340 – 3401P → A in allele CYP3A43*3. 1 Publication
Corresponds to variant rs680055 [ dbSNP | Ensembl ].
VAR_018052

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei224 – 25027SLFPF…THFLK → YRVSLCCLGRSAWCDLGSLK PPPPGFE in isoform 4. VSP_000612Add
BLAST
Alternative sequencei251 – 503253Missing in isoform 4. VSP_000613Add
BLAST
Alternative sequencei417 – 4171E → ES in isoform 2. VSP_000609
Alternative sequencei419 – 4202FS → SH in isoform 3. VSP_000610
Alternative sequencei421 – 50383Missing in isoform 3. VSP_000611Add
BLAST

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
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.
CCDSiCCDS5675.1. [Q9HB55-2]
CCDS5676.1. [Q9HB55-1]
CCDS5677.1. [Q9HB55-3]
PIRiJC7627.
RefSeqiNP_001265850.1. NM_001278921.1.
NP_073731.1. NM_022820.4. [Q9HB55-2]
NP_476436.1. NM_057095.2. [Q9HB55-1]
NP_476437.1. NM_057096.3. [Q9HB55-3]
UniGeneiHs.306220.
Hs.571258.
Hs.728751.

Genome annotation databases

EnsembliENST00000222382; ENSP00000222382; ENSG00000021461. [Q9HB55-2]
ENST00000312017; ENSP00000312110; ENSG00000021461. [Q9HB55-3]
ENST00000354829; ENSP00000346887; ENSG00000021461. [Q9HB55-1]
ENST00000434806; ENSP00000411653; ENSG00000021461. [Q9HB55-4]
GeneIDi64816.
KEGGihsa:64816.
UCSCiuc003urx.1. human. [Q9HB55-1]
uc003ury.1. human. [Q9HB55-2]
uc003urz.1. human. [Q9HB55-3]

Polymorphism databases

DMDMi20137481.

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

Web resourcesi

Cytochrome P450 Allele Nomenclature Committee

CYP3A43 alleles

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
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 .
CCDSi CCDS5675.1. [Q9HB55-2 ]
CCDS5676.1. [Q9HB55-1 ]
CCDS5677.1. [Q9HB55-3 ]
PIRi JC7627.
RefSeqi NP_001265850.1. NM_001278921.1.
NP_073731.1. NM_022820.4. [Q9HB55-2 ]
NP_476436.1. NM_057095.2. [Q9HB55-1 ]
NP_476437.1. NM_057096.3. [Q9HB55-3 ]
UniGenei Hs.306220.
Hs.571258.
Hs.728751.

3D structure databases

ProteinModelPortali Q9HB55.
SMRi Q9HB55. Positions 28-498.
ModBasei Search...
MobiDBi Search...

Protein-protein interaction databases

STRINGi 9606.ENSP00000222382.

Chemistry

BindingDBi Q9HB55.
ChEMBLi CHEMBL2364675.
DrugBanki DB00341. Cetirizine.
DB00254. Doxycycline.

PTM databases

PhosphoSitei Q9HB55.

Polymorphism databases

DMDMi 20137481.

Proteomic databases

PaxDbi Q9HB55.
PRIDEi Q9HB55.

Protocols and materials databases

Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000222382 ; ENSP00000222382 ; ENSG00000021461 . [Q9HB55-2 ]
ENST00000312017 ; ENSP00000312110 ; ENSG00000021461 . [Q9HB55-3 ]
ENST00000354829 ; ENSP00000346887 ; ENSG00000021461 . [Q9HB55-1 ]
ENST00000434806 ; ENSP00000411653 ; ENSG00000021461 . [Q9HB55-4 ]
GeneIDi 64816.
KEGGi hsa:64816.
UCSCi uc003urx.1. human. [Q9HB55-1 ]
uc003ury.1. human. [Q9HB55-2 ]
uc003urz.1. human. [Q9HB55-3 ]

Organism-specific databases

CTDi 64816.
GeneCardsi GC07P099426.
H-InvDB HIX0033547.
HGNCi HGNC:17450. CYP3A43.
MIMi 606534. gene.
neXtProti NX_Q9HB55.
PharmGKBi PA427.
GenAtlasi Search...

Phylogenomic databases

eggNOGi COG2124.
HOGENOMi HOG000039127.
HOVERGENi HBG108567.
KOi K17692.
OMAi CPESRFS.
OrthoDBi EOG744TBS.
PhylomeDBi Q9HB55.
TreeFami TF105087.

Enzyme and pathway databases

Reactomei REACT_13425. Miscellaneous substrates.
REACT_13543. Xenobiotics.

Miscellaneous databases

GeneWikii CYP3A43.
GenomeRNAii 64816.
NextBioi 66908.
PROi Q9HB55.
SOURCEi Search...

Gene expression databases

ArrayExpressi Q9HB55.
Bgeei Q9HB55.
CleanExi HS_CYP3A43.
Genevestigatori Q9HB55.

Family and domain databases

Gene3Di 1.10.630.10. 1 hit.
InterProi IPR001128. Cyt_P450.
IPR017972. Cyt_P450_CS.
IPR008072. Cyt_P450_E_CYP3A.
IPR002402. Cyt_P450_E_grp-II.
[Graphical view ]
Pfami PF00067. p450. 1 hit.
[Graphical view ]
PRINTSi PR00464. EP450II.
PR01689. EP450IICYP3A.
PR00385. P450.
SUPFAMi SSF48264. SSF48264. 1 hit.
PROSITEi PS00086. CYTOCHROME_P450. 1 hit.
[Graphical view ]
ProtoNeti Search...

Publicationsi

« Hide 'large scale' publications
  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. 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.
    , 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. 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. Cited for: SPLICE ISOFORM(S) THAT ARE POTENTIAL NMD TARGET(S).

Entry informationi

Entry nameiCP343_HUMAN
AccessioniPrimary (citable) accession number: Q9HB55
Secondary accession number(s): Q75MK2
, Q9HB52, Q9HB53, Q9HB54, Q9HB57
Entry historyi
Integrated into UniProtKB/Swiss-Prot: January 31, 2002
Last sequence update: March 1, 2001
Last modified: September 3, 2014
This is version 129 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

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 (CYP3A43 exon 1 joined to CYP3A4 exons 2-13) exhibits 6-beta-hydroxylase activity, while a shorter isoform (CYP3A43 exon 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 (1 Publication).

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. Human chromosome 7
    Human chromosome 7: 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

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