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Q9NYL5 (CP39A_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified July 9, 2014. Version 122. 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·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended name:
24-hydroxycholesterol 7-alpha-hydroxylase

EC=1.14.13.99
Alternative name(s):
Cytochrome P450 39A1
Short name=hCYP39A1
Oxysterol 7-alpha-hydroxylase
Gene names
Name:CYP39A1
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length469 AA.
Sequence statusComplete.
Protein existenceEvidence at transcript level

General annotation (Comments)

Function

Involved in the bile acid metabolism. Has a preference for 24-hydroxycholesterol, and converts it into a 7-alpha-hydroxylated product.

Catalytic activity

(24R)-cholest-5-ene-3-beta,24-diol + NADPH + O2 = (24R)-cholest-5-ene-3-beta,7-alpha,24-triol + NADP+ + H2O.

Cofactor

Heme group By similarity.

Subcellular location

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

Tissue specificity

Liver specific.

Sequence similarities

Belongs to the cytochrome P450 family.

Ontologies

Keywords
   Biological processBile acid catabolism
Lipid degradation
Lipid metabolism
Steroid metabolism
   Cellular componentEndoplasmic reticulum
Membrane
Microsome
   Coding sequence diversityPolymorphism
   LigandHeme
Iron
Metal-binding
NADP
   Molecular functionMonooxygenase
Oxidoreductase
   Technical termComplete proteome
Reference proteome
Gene Ontology (GO)
   Biological_processbile acid biosynthetic process

Inferred from direct assay Ref.1. Source: UniProtKB

bile acid catabolic process

Inferred from electronic annotation. Source: UniProtKB-KW

bile acid metabolic process

Traceable author statement. Source: Reactome

cholesterol catabolic process

Inferred from electronic annotation. Source: Ensembl

digestion

Traceable author statement Ref.1. Source: UniProtKB

small molecule metabolic process

Traceable author statement. Source: Reactome

sterol metabolic process

Traceable author statement. Source: Reactome

xenobiotic metabolic process

Traceable author statement. Source: Reactome

   Cellular_componentendoplasmic reticulum membrane

Traceable author statement. Source: Reactome

intracellular membrane-bounded organelle

Traceable author statement Ref.1. Source: UniProtKB

   Molecular_function24-hydroxycholesterol 7alpha-hydroxylase activity

Inferred from electronic annotation. Source: UniProtKB-EC

heme binding

Inferred from electronic annotation. Source: InterPro

iron ion binding

Inferred from electronic annotation. Source: InterPro

oxysterol 7-alpha-hydroxylase activity

Inferred from direct assay Ref.1. Source: UniProtKB

steroid 7-alpha-hydroxylase activity

Inferred from electronic annotation. Source: Ensembl

Complete GO annotation...

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 46946924-hydroxycholesterol 7-alpha-hydroxylase
PRO_0000051992

Sites

Metal binding4141Iron (heme axial ligand) Potential

Natural variations

Natural variant231R → P. Ref.4
Corresponds to variant rs12192544 [ dbSNP | Ensembl ].
VAR_031609
Natural variant1031R → H.
Corresponds to variant rs2277119 [ dbSNP | Ensembl ].
VAR_031610
Natural variant2881Y → H. Ref.4
Corresponds to variant rs17856332 [ dbSNP | Ensembl ].
VAR_031611
Natural variant3241N → K. Ref.1
Corresponds to variant rs7761731 [ dbSNP | Ensembl ].
VAR_031612

Sequences

Sequence LengthMass (Da)Tools
Q9NYL5 [UniParc].

Last modified April 17, 2007. Version 2.
Checksum: 74B013055257275C

FASTA46954,116
        10         20         30         40         50         60 
MELISPTVII ILGCLALFLL LQRKNLRRPP CIKGWIPWIG VGFEFGKAPL EFIEKARIKY 

        70         80         90        100        110        120 
GPIFTVFAMG NRMTFVTEEE GINVFLKSKK VDFELAVQNI VYRTASIPKN VFLALHEKLY 

       130        140        150        160        170        180 
IMLKGKMGTV NLHQFTGQLT EELHEQLENL GTHGTMDLNN LVRHLLYPVT VNMLFNKSLF 

       190        200        210        220        230        240 
STNKKKIKEF HQYFQVYDED FEYGSQLPEC LLRNWSKSKK WFLELFEKNI PDIKACKSAK 

       250        260        270        280        290        300 
DNSMTLLQAT LDIVETETSK ENSPNYGLLL LWASLSNAVP VAFWTLAYVL SHPDIHKAIM 

       310        320        330        340        350        360 
EGISSVFGKA GKDKIKVSED DLENLLLIKW CVLETIRLKA PGVITRKVVK PVEILNYIIP 

       370        380        390        400        410        420 
SGDLLMLSPF WLHRNPKYFP EPELFKPERW KKANLEKHSF LDCFMAFGSG KFQCPARWFA 

       430        440        450        460 
LLEVQMCIIL ILYKYDCSLL DPLPKQSYLH LVGVPQPEGQ CRIEYKQRI 

« Hide

References

« Hide 'large scale' references
[1]"Expression cloning of an oxysterol 7alpha-hydroxylase selective for 24-hydroxycholesterol."
Li-Hawkins J., Lund E.G., Bronson A.D., Russell D.W.
J. Biol. Chem. 275:16543-16549(2000) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [MRNA], VARIANT LYS-324.
Tissue: Liver.
[2]"Complete sequencing and characterization of 21,243 full-length human cDNAs."
Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S. expand/collapse author list , Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K., Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S., Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O., Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H., Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B., Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S.
Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
Tissue: Testis.
[3]"The DNA sequence and analysis of human chromosome 6."
Mungall A.J., Palmer S.A., Sims S.K., Edwards C.A., Ashurst J.L., Wilming L., Jones M.C., Horton R., Hunt S.E., Scott C.E., Gilbert J.G.R., Clamp M.E., Bethel G., Milne S., Ainscough R., Almeida J.P., Ambrose K.D., Andrews T.D. expand/collapse author list , Ashwell R.I.S., Babbage A.K., Bagguley C.L., Bailey J., Banerjee R., Barker D.J., Barlow K.F., Bates K., Beare D.M., Beasley H., Beasley O., Bird C.P., Blakey S.E., Bray-Allen S., Brook J., Brown A.J., Brown J.Y., Burford D.C., Burrill W., Burton J., Carder C., Carter N.P., Chapman J.C., Clark S.Y., Clark G., Clee C.M., Clegg S., Cobley V., Collier R.E., Collins J.E., Colman L.K., Corby N.R., Coville G.J., Culley K.M., Dhami P., Davies J., Dunn M., Earthrowl M.E., Ellington A.E., Evans K.A., Faulkner L., Francis M.D., Frankish A., Frankland J., French L., Garner P., Garnett J., Ghori M.J., Gilby L.M., Gillson C.J., Glithero R.J., Grafham D.V., Grant M., Gribble S., Griffiths C., Griffiths M.N.D., Hall R., Halls K.S., Hammond S., Harley J.L., Hart E.A., Heath P.D., Heathcott R., Holmes S.J., Howden P.J., Howe K.L., Howell G.R., Huckle E., Humphray S.J., Humphries M.D., Hunt A.R., Johnson C.M., Joy A.A., Kay M., Keenan S.J., Kimberley A.M., King A., Laird G.K., Langford C., Lawlor S., Leongamornlert D.A., Leversha M., Lloyd C.R., Lloyd D.M., Loveland J.E., Lovell J., Martin S., Mashreghi-Mohammadi M., Maslen G.L., Matthews L., McCann O.T., McLaren S.J., McLay K., McMurray A., Moore M.J.F., Mullikin J.C., Niblett D., Nickerson T., Novik K.L., Oliver K., Overton-Larty E.K., Parker A., Patel R., Pearce A.V., Peck A.I., Phillimore B.J.C.T., Phillips S., Plumb R.W., Porter K.M., Ramsey Y., Ranby S.A., Rice C.M., Ross M.T., Searle S.M., Sehra H.K., Sheridan E., Skuce C.D., Smith S., Smith M., Spraggon L., Squares S.L., Steward C.A., Sycamore N., Tamlyn-Hall G., Tester J., Theaker A.J., Thomas D.W., Thorpe A., Tracey A., Tromans A., Tubby B., Wall M., Wallis J.M., West A.P., White S.S., Whitehead S.L., Whittaker H., Wild A., Willey D.J., Wilmer T.E., Wood J.M., Wray P.W., Wyatt J.C., Young L., Younger R.M., Bentley D.R., Coulson A., Durbin R.M., Hubbard T., Sulston J.E., Dunham I., Rogers J., Beck S.
Nature 425:805-811(2003) [PubMed] [Europe PMC] [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] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA], VARIANTS PRO-23 AND HIS-288.
Tissue: Skin.
+Additional computationally mapped references.

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
AF237982 mRNA. Translation: AAF63329.1.
AK292263 mRNA. Translation: BAF84952.1.
AL591242, AL035670 Genomic DNA. Translation: CAH73899.1.
AL035670, AL591242 Genomic DNA. Translation: CAI20276.1.
BC010358 mRNA. Translation: AAH10358.1.
CCDSCCDS4916.1.
RefSeqNP_001265667.1. NM_001278738.1.
NP_001265668.1. NM_001278739.1.
NP_057677.2. NM_016593.4.
UniGeneHs.387367.

3D structure databases

ProteinModelPortalQ9NYL5.
SMRQ9NYL5. Positions 23-468.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

BioGrid119453. 4 interactions.
IntActQ9NYL5. 4 interactions.
STRING9606.ENSP00000275016.

Polymorphism databases

DMDM145559458.

Proteomic databases

PaxDbQ9NYL5.
PRIDEQ9NYL5.

Protocols and materials databases

DNASU51302.
StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000275016; ENSP00000275016; ENSG00000146233.
GeneID51302.
KEGGhsa:51302.
UCSCuc003oyf.1. human.

Organism-specific databases

CTD51302.
GeneCardsGC06M046564.
H-InvDBHIX0005936.
HGNCHGNC:17449. CYP39A1.
HPAHPA029892.
MIM605994. gene.
neXtProtNX_Q9NYL5.
PharmGKBPA38452.
GenAtlasSearch...

Phylogenomic databases

eggNOGCOG2124.
HOGENOMHOG000290686.
HOVERGENHBG106232.
InParanoidQ9NYL5.
KOK07439.
OMANLRRPPC.
OrthoDBEOG7W153H.
PhylomeDBQ9NYL5.
TreeFamTF105090.

Enzyme and pathway databases

BRENDA1.14.13.60. 2681.
ReactomeREACT_111217. Metabolism.

Gene expression databases

BgeeQ9NYL5.
CleanExHS_CYP39A1.
GenevestigatorQ9NYL5.

Family and domain databases

Gene3D1.10.630.10. 1 hit.
InterProIPR001128. Cyt_P450.
IPR024204. Cyt_P450_CYP7A1-type.
IPR002403. Cyt_P450_E_grp-IV.
[Graphical view]
PfamPF00067. p450. 1 hit.
[Graphical view]
PIRSFPIRSF000047. Cytochrome_CYPVIIA1. 1 hit.
PRINTSPR00465. EP450IV.
SUPFAMSSF48264. SSF48264. 1 hit.
ProtoNetSearch...

Other

GeneWikiCYP39A1.
GenomeRNAi51302.
NextBio54605.
PROQ9NYL5.
SOURCESearch...

Entry information

Entry nameCP39A_HUMAN
AccessionPrimary (citable) accession number: Q9NYL5
Secondary accession number(s): Q5VTT0, Q96FW5
Entry history
Integrated into UniProtKB/Swiss-Prot: January 23, 2002
Last sequence update: April 17, 2007
Last modified: July 9, 2014
This is version 122 of the entry and version 2 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 6

Human chromosome 6: entries, gene names and cross-references to MIM