Q9NYL5 (CP39A_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

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 names

Name:

CYP39A1

Organism

Homo sapiens (Human) [Reference proteome]

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

cellular organisms › Eukaryota › Opisthokonta › Metazoa › Eumetazoa › Bilateria › Deuterostomia › Chordata › Craniata › Vertebrata › Gnathostomata › Teleostomi › Euteleostomi › Sarcopterygii › Tetrapoda › Amniota › Mammalia › Theria › Eutheria › Euarchontoglires › Primates › Haplorrhini › Simiiformes › Catarrhini › Hominoidea › Hominidae › Homininae › Homo

Protein attributes

Sequence length	469 AA.
Sequence status	Complete.
Protein existence	Evidence 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 process	Bile acid catabolism Lipid degradation Lipid metabolism Steroid metabolism
Cellular component	Endoplasmic reticulum Membrane Microsome
Coding sequence diversity	Polymorphism
Ligand	Heme Iron Metal-binding NADP
Molecular function	Monooxygenase Oxidoreductase
Technical term	Complete proteome Reference proteome
Gene Ontology (GO)
Biological_process	bile acid biosynthetic process Inferred from direct assay Ref.1. Source: UniProtKB bile acid catabolic process Inferred from electronic annotation. Source: UniProtKB-KW cholesterol catabolic process Inferred from electronic annotation. Source: Compara digestion Traceable author statement Ref.1. Source: UniProtKB xenobiotic metabolic process Traceable author statement. Source: Reactome
Cellular_component	endoplasmic reticulum membrane Traceable author statement. Source: Reactome
Molecular_function	24-hydroxycholesterol 7alpha-hydroxylase activity Inferred from electronic annotation. Source: EC electron carrier activity Inferred from electronic annotation. Source: InterPro 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: Compara
Complete GO annotation...

Sequence annotation (Features)

	Feature key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Chain	1 – 469	469	24-hydroxycholesterol 7-alpha-hydroxylase		PRO_0000051992
Sites
	Metal binding	414	1	Iron (heme axial ligand) Potential
Natural variations
	Natural variant	23	1	R → P. Ref.4 Corresponds to variant rs12192544 [ dbSNP | Ensembl ].		VAR_031609
	Natural variant	103	1	R → H. Corresponds to variant rs2277119 [ dbSNP | Ensembl ].		VAR_031610
	Natural variant	288	1	Y → H. Ref.4 Corresponds to variant rs17856332 [ dbSNP | Ensembl ].		VAR_031611
	Natural variant	324	1	N → K. Ref.1 Corresponds to variant rs7761731 [ dbSNP | Ensembl ].		VAR_031612

Sequences

	Sequence		Length	Mass (Da)
	Q9NYL5 [UniParc]. Last modified April 17, 2007. Version 2. Checksum: 74B013055257275C	FASTA	469	54,116
	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

References

	« Hide 'large scale' referencesShow '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. , 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.
+	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.
IPI	IPI00009883.
RefSeq	NP_057677.2. NM_016593.3.
UniGene	Hs.387367.
3D structure databases
ProteinModelPortal	Q9NYL5.
ModBase	Search...
Protein-protein interaction databases
IntAct	Q9NYL5. 4 interactions.
STRING	9606.ENSP00000275016.
Polymorphism databases
DMDM	145559458.
Proteomic databases
PaxDb	Q9NYL5.
PRIDE	Q9NYL5.
Protocols and materials databases
DNASU	51302.
StructuralBiologyKnowledgebase	Search...
Genome annotation databases
Ensembl	ENST00000275016; ENSP00000275016; ENSG00000146233.
GeneID	51302.
KEGG	hsa:51302.
UCSC	uc003oyf.1. human.
Organism-specific databases
CTD	51302.
GeneCards	GC06M046564.
H-InvDB	HIX0005936.
HGNC	HGNC:17449. CYP39A1.
HPA	HPA029892.
MIM	605994. gene.
neXtProt	NX_Q9NYL5.
PharmGKB	PA38452.
GenAtlas	Search...
Phylogenomic databases
eggNOG	COG2124.
HOGENOM	HOG000290686.
HOVERGEN	HBG106232.
InParanoid	Q9NYL5.
KO	K07439.
OMA	PEGQCRI.
OrthoDB	EOG49KFQX.
PhylomeDB	Q9NYL5.
Enzyme and pathway databases
BRENDA	1.14.13.60. 2681.
Reactome	REACT_111217. Metabolism.
Gene expression databases
Bgee	Q9NYL5.
CleanEx	HS_CYP39A1.
Genevestigator	Q9NYL5.
GermOnline	ENSG00000146233. Homo sapiens.
Family and domain databases
Gene3D	1.10.630.10. 1 hit.
InterPro	IPR001128. Cyt_P450. IPR024204. Cyt_P450_CYP7A1-type. IPR002403. Cyt_P450_E_grp-IV. [Graphical view]
Pfam	PF00067. p450. 1 hit. [Graphical view]
PIRSF	PIRSF000047. Cytochrome_CYPVIIA1. 1 hit.
PRINTS	PR00465. EP450IV.
SUPFAM	SSF48264. Cytochrome_P450. 1 hit.
PROSITE	PS00086. CYTOCHROME_P450. False negative. [Graphical view]
ProtoNet	Search...
Other
GenomeRNAi	51302.
NextBio	54605.
SOURCE	Search...

Entry information

Entry name

CP39A_HUMAN

Accession

Primary (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:	May 1, 2013
This is version 113 of the entry and version 2 of the sequence. [Complete history]

Entry status

Reviewed (UniProtKB/Swiss-Prot)

Annotation program

Chordata Protein Annotation Program

Disclaimer

Any 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.