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Protein

24-hydroxycholesterol 7-alpha-hydroxylase

Gene

CYP39A1

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

Functioni

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

Catalytic activityi

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

Cofactori

hemeBy similarity

Sites

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Metal bindingi414 – 4141Iron (heme axial ligand)Sequence Analysis

GO - Molecular functioni

  1. 24-hydroxycholesterol 7alpha-hydroxylase activity Source: UniProtKB-EC
  2. heme binding Source: InterPro
  3. iron ion binding Source: InterPro
  4. oxysterol 7-alpha-hydroxylase activity Source: UniProtKB
  5. steroid 7-alpha-hydroxylase activity Source: Ensembl

GO - Biological processi

  1. bile acid biosynthetic process Source: UniProtKB
  2. bile acid catabolic process Source: UniProtKB-KW
  3. bile acid metabolic process Source: Reactome
  4. cholesterol catabolic process Source: Ensembl
  5. digestion Source: UniProtKB
  6. small molecule metabolic process Source: Reactome
  7. sterol metabolic process Source: Reactome
  8. xenobiotic metabolic process Source: Reactome
Complete GO annotation...

Keywords - Molecular functioni

Monooxygenase, Oxidoreductase

Keywords - Biological processi

Bile acid catabolism, Lipid degradation, Lipid metabolism, Steroid metabolism

Keywords - Ligandi

Heme, Iron, Metal-binding, NADP

Enzyme and pathway databases

ReactomeiREACT_11053. Synthesis of bile acids and bile salts via 24-hydroxycholesterol.
REACT_13812. Endogenous sterols.

Names & Taxonomyi

Protein namesi
Recommended 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 namesi
Name:CYP39A1
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
ProteomesiUP000005640 Componenti: Chromosome 6

Organism-specific databases

HGNCiHGNC:17449. CYP39A1.

Subcellular locationi

GO - Cellular componenti

  1. endoplasmic reticulum membrane Source: Reactome
  2. intracellular membrane-bounded organelle Source: UniProtKB
Complete GO annotation...

Keywords - Cellular componenti

Endoplasmic reticulum, Membrane, Microsome

Pathology & Biotechi

Organism-specific databases

PharmGKBiPA38452.

Polymorphism and mutation databases

BioMutaiCYP39A1.
DMDMi145559458.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 46946924-hydroxycholesterol 7-alpha-hydroxylasePRO_0000051992Add
BLAST

Proteomic databases

PaxDbiQ9NYL5.
PRIDEiQ9NYL5.

Expressioni

Tissue specificityi

Liver specific.

Gene expression databases

BgeeiQ9NYL5.
CleanExiHS_CYP39A1.
GenevestigatoriQ9NYL5.

Organism-specific databases

HPAiHPA029892.

Interactioni

Protein-protein interaction databases

BioGridi119453. 4 interactions.
IntActiQ9NYL5. 4 interactions.
STRINGi9606.ENSP00000275016.

Structurei

3D structure databases

ProteinModelPortaliQ9NYL5.
SMRiQ9NYL5. Positions 23-468.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Sequence similaritiesi

Belongs to the cytochrome P450 family.Curated

Phylogenomic databases

eggNOGiCOG2124.
GeneTreeiENSGT00550000074551.
HOGENOMiHOG000290686.
HOVERGENiHBG106232.
InParanoidiQ9NYL5.
KOiK07439.
OMAiNLRRPPC.
OrthoDBiEOG7W153H.
PhylomeDBiQ9NYL5.
TreeFamiTF105090.

Family and domain databases

Gene3Di1.10.630.10. 1 hit.
InterProiIPR001128. Cyt_P450.
IPR024204. Cyt_P450_CYP7A1-type.
IPR002403. Cyt_P450_E_grp-IV.
[Graphical view]
PfamiPF00067. p450. 1 hit.
[Graphical view]
PIRSFiPIRSF000047. Cytochrome_CYPVIIA1. 1 hit.
PRINTSiPR00465. EP450IV.
SUPFAMiSSF48264. SSF48264. 1 hit.

Sequencei

Sequence statusi: Complete.

Q9NYL5-1 [UniParc]FASTAAdd to basket

« Hide

        10         20         30         40         50
MELISPTVII ILGCLALFLL LQRKNLRRPP CIKGWIPWIG VGFEFGKAPL
60 70 80 90 100
EFIEKARIKY GPIFTVFAMG NRMTFVTEEE GINVFLKSKK VDFELAVQNI
110 120 130 140 150
VYRTASIPKN VFLALHEKLY IMLKGKMGTV NLHQFTGQLT EELHEQLENL
160 170 180 190 200
GTHGTMDLNN LVRHLLYPVT VNMLFNKSLF STNKKKIKEF HQYFQVYDED
210 220 230 240 250
FEYGSQLPEC LLRNWSKSKK WFLELFEKNI PDIKACKSAK DNSMTLLQAT
260 270 280 290 300
LDIVETETSK ENSPNYGLLL LWASLSNAVP VAFWTLAYVL SHPDIHKAIM
310 320 330 340 350
EGISSVFGKA GKDKIKVSED DLENLLLIKW CVLETIRLKA PGVITRKVVK
360 370 380 390 400
PVEILNYIIP SGDLLMLSPF WLHRNPKYFP EPELFKPERW KKANLEKHSF
410 420 430 440 450
LDCFMAFGSG KFQCPARWFA LLEVQMCIIL ILYKYDCSLL DPLPKQSYLH
460
LVGVPQPEGQ CRIEYKQRI
Length:469
Mass (Da):54,116
Last modified:April 17, 2007 - v2
Checksum:i74B013055257275C
GO

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti23 – 231R → P.1 Publication
Corresponds to variant rs12192544 [ dbSNP | Ensembl ].
VAR_031609
Natural varianti103 – 1031R → H.
Corresponds to variant rs2277119 [ dbSNP | Ensembl ].
VAR_031610
Natural varianti288 – 2881Y → H.1 Publication
Corresponds to variant rs17856332 [ dbSNP | Ensembl ].
VAR_031611
Natural varianti324 – 3241N → K.1 Publication
Corresponds to variant rs7761731 [ dbSNP | Ensembl ].
VAR_031612

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
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.
CCDSiCCDS4916.1.
RefSeqiNP_001265667.1. NM_001278738.1.
NP_001265668.1. NM_001278739.1.
NP_057677.2. NM_016593.4.
UniGeneiHs.387367.

Genome annotation databases

EnsembliENST00000275016; ENSP00000275016; ENSG00000146233.
GeneIDi51302.
KEGGihsa:51302.
UCSCiuc003oyf.1. human.

Polymorphism and mutation databases

BioMutaiCYP39A1.

Keywords - Coding sequence diversityi

Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
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.
CCDSiCCDS4916.1.
RefSeqiNP_001265667.1. NM_001278738.1.
NP_001265668.1. NM_001278739.1.
NP_057677.2. NM_016593.4.
UniGeneiHs.387367.

3D structure databases

ProteinModelPortaliQ9NYL5.
SMRiQ9NYL5. Positions 23-468.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi119453. 4 interactions.
IntActiQ9NYL5. 4 interactions.
STRINGi9606.ENSP00000275016.

Polymorphism and mutation databases

BioMutaiCYP39A1.
DMDMi145559458.

Proteomic databases

PaxDbiQ9NYL5.
PRIDEiQ9NYL5.

Protocols and materials databases

DNASUi51302.
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000275016; ENSP00000275016; ENSG00000146233.
GeneIDi51302.
KEGGihsa:51302.
UCSCiuc003oyf.1. human.

Organism-specific databases

CTDi51302.
GeneCardsiGC06M046517.
H-InvDBHIX0005936.
HGNCiHGNC:17449. CYP39A1.
HPAiHPA029892.
MIMi605994. gene.
neXtProtiNX_Q9NYL5.
PharmGKBiPA38452.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiCOG2124.
GeneTreeiENSGT00550000074551.
HOGENOMiHOG000290686.
HOVERGENiHBG106232.
InParanoidiQ9NYL5.
KOiK07439.
OMAiNLRRPPC.
OrthoDBiEOG7W153H.
PhylomeDBiQ9NYL5.
TreeFamiTF105090.

Enzyme and pathway databases

ReactomeiREACT_11053. Synthesis of bile acids and bile salts via 24-hydroxycholesterol.
REACT_13812. Endogenous sterols.

Miscellaneous databases

GeneWikiiCYP39A1.
GenomeRNAii51302.
NextBioi54605.
PROiQ9NYL5.
SOURCEiSearch...

Gene expression databases

BgeeiQ9NYL5.
CleanExiHS_CYP39A1.
GenevestigatoriQ9NYL5.

Family and domain databases

Gene3Di1.10.630.10. 1 hit.
InterProiIPR001128. Cyt_P450.
IPR024204. Cyt_P450_CYP7A1-type.
IPR002403. Cyt_P450_E_grp-IV.
[Graphical view]
PfamiPF00067. p450. 1 hit.
[Graphical view]
PIRSFiPIRSF000047. Cytochrome_CYPVIIA1. 1 hit.
PRINTSiPR00465. EP450IV.
SUPFAMiSSF48264. SSF48264. 1 hit.
ProtoNetiSearch...

Publicationsi

« Hide 'large scale' publications
  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.
    , 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.
    , 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.

Entry informationi

Entry nameiCP39A_HUMAN
AccessioniPrimary (citable) accession number: Q9NYL5
Secondary accession number(s): Q5VTT0, Q96FW5
Entry historyi
Integrated into UniProtKB/Swiss-Prot: January 23, 2002
Last sequence update: April 17, 2007
Last modified: April 29, 2015
This is version 129 of the entry and version 2 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 6
    Human chromosome 6: 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

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into Uniref entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.