CYP39A1 (cytochrome P450 family 39 subfamily A member 1)

Gene

• Entrez ID: 51302
• Gene name: Cytochrome P450 family 39 subfamily A member 1
• Gene symbol: CYP39A1
• Synonyms (NCBI Gene): -
• Chromosome: 6
• Chromosome location: 6p12.3
• Summary: This gene encodes a member of the cytochrome P450 superfamily of enzymes. The cytochrome P450 proteins are monooxygenases which catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids. This endoplasmic r

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT018738	hsa-miR-335-5p	Microarray	18185580
MIRT021447	hsa-miR-9-5p	Microarray	17612493
MIRT921464	hsa-miR-186	CLIP-seq
MIRT921465	hsa-miR-18a	CLIP-seq
MIRT921466	hsa-miR-18b	CLIP-seq
MIRT921467	hsa-miR-3133	CLIP-seq
MIRT921468	hsa-miR-3607-3p	CLIP-seq
MIRT921469	hsa-miR-3664-5p	CLIP-seq
MIRT921470	hsa-miR-3686	CLIP-seq
MIRT921471	hsa-miR-4714-5p	CLIP-seq
MIRT921472	hsa-miR-4735-3p	CLIP-seq
MIRT2386663	hsa-miR-3609	CLIP-seq
MIRT2386664	hsa-miR-4302	CLIP-seq
MIRT2386665	hsa-miR-4519	CLIP-seq
MIRT2386666	hsa-miR-520g	CLIP-seq
MIRT2386667	hsa-miR-520h	CLIP-seq
MIRT2386668	hsa-miR-548ah	CLIP-seq
MIRT2512484	hsa-miR-1291	CLIP-seq
MIRT2512485	hsa-miR-4493	CLIP-seq
MIRT2512486	hsa-miR-4691-5p	CLIP-seq
MIRT2512487	hsa-miR-483-3p	CLIP-seq
MIRT2512484	hsa-miR-1291	CLIP-seq
MIRT2512485	hsa-miR-4493	CLIP-seq
MIRT2512486	hsa-miR-4691-5p	CLIP-seq
MIRT2512487	hsa-miR-483-3p	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0004497	Function	Monooxygenase activity	IEA
GO:0005506	Function	Iron ion binding	IEA
GO:0005515	Function	Protein binding	IPI	28514442, 33961781
GO:0005783	Component	Endoplasmic reticulum	IEA
GO:0005789	Component	Endoplasmic reticulum membrane	IEA
GO:0005789	Component	Endoplasmic reticulum membrane	TAS
GO:0006629	Process	Lipid metabolic process	IEA
GO:0006699	Process	Bile acid biosynthetic process	IBA
GO:0006699	Process	Bile acid biosynthetic process	IDA	10748047
GO:0006699	Process	Bile acid biosynthetic process	IEA
GO:0006699	Process	Bile acid biosynthetic process	TAS
GO:0006707	Process	Cholesterol catabolic process	IEA
GO:0006707	Process	Cholesterol catabolic process	IEA
GO:0007586	Process	Digestion	IEA
GO:0007586	Process	Digestion	TAS	10748047
GO:0008202	Process	Steroid metabolic process	IEA
GO:0008203	Process	Cholesterol metabolic process	IEA
GO:0008387	Function	Steroid 7-alpha-hydroxylase activity	IEA
GO:0008395	Function	Steroid hydroxylase activity	IBA
GO:0008396	Function	Oxysterol 7-alpha-hydroxylase activity	TAS
GO:0016020	Component	Membrane	IEA
GO:0016125	Process	Sterol metabolic process	IEA
GO:0016125	Process	Sterol metabolic process	TAS
GO:0016491	Function	Oxidoreductase activity	IEA
GO:0016705	Function	Oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen	IEA
GO:0020037	Function	Heme binding	IEA
GO:0033782	Function	24S-hydroxycholesterol 7-alpha-hydroxylase activity	IEA
GO:0042632	Process	Cholesterol homeostasis	IBA
GO:0043231	Component	Intracellular membrane-bounded organelle	TAS	10748047
GO:0046872	Function	Metal ion binding	IEA

Other IDs

• MIM: 605994
• HGNC: 17449
• e!Ensembl: ENSG00000146233

Protein

• UniProt ID: Q9NYL5
• Protein name: 24-hydroxycholesterol 7-alpha-hydroxylase (EC 1.14.14.26) (Cytochrome P450 39A1) (hCYP39A1) (Oxysterol 7-alpha-hydroxylase)
• Protein function: A cytochrome P450 monooxygenase involved in neural cholesterol clearance through bile acid synthesis (PubMed:10748047, PubMed:25201972). Catalyzes 7-alpha hydroxylation of (24S)-hydroxycholesterol, a neural oxysterol that is metabolized to bile
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00067	p450	29 → 463	Cytochrome P450	Domain

• Tissue specificity: TISSUE SPECIFICITY: Liver specific. {ECO:0000269|PubMed:10748047}.
• Sequence:

  MELISPTVIIILGCLALFLLLQRKNLRRPPCIKGWIPWIGVGFEFGKAPLEFIEKARIKY
  GPIFTVFAMGNRMTFVTEEEGINVFLKSKKVDFELAVQNIVYRTASIPKNVFLALHEKLY
  IMLKGKMGTVNLHQFTGQLTEELHEQLENLGTHGTMDLNNLVRHLLYPVTVNMLFNKSLF
  STNKKKIKEFHQYFQVYDEDFEYGSQLPECLLRNWSKSKKWFLELFEKNIPDIKACKSAK
  DNSMTLLQATLDIVETETSKENSPNYGLLLLWASLSNAVPVAFWTLAYVLSHPDIHKAIM
  EGISSVFGKAGKDKIKVSEDDLENLLLIKWCVLETIRLKAPGVITRKVVKPVEILNYIIP
  SGDLLMLSPFWLHRNPKYFPEPELFKPERWKKANLEKHSFLDCFMAFGSGKFQCPARWFA
  LLEVQMCIILILYKYDCSLLDPLPKQSYLHLVGVPQPEGQCRIEYKQRI

• Sequence length: 469

Pathways

KEGG:

Primary bile acid biosynthesis

Reactome:

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

Associated diseases

Evidence Score:

• ★☆☆☆☆  Gene-disease association found in Text Mining only
• ★★☆☆☆  Found in Text Mining and Unknown/Other Associations
• ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources
• ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants)
• ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
AUTISM SPECTRUM DISORDER	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AUTISM SPECTRUM DISORDERS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BREAST CARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CARCINOMA, HEPATOCELLULAR	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ESTROGEN-RECEPTOR POSITIVE BREAST CANCER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	32392803	Associate	★☆☆☆☆ Found in Text Mining only
Cholangiocarcinoma	Cholangiocarcinoma	Pubtator	25556446	Associate	★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	27341022	Associate	★☆☆☆☆ Found in Text Mining only
Congenital contractural arachnodactyly	Congenital contractural arachnodactyly	Pubtator	25556446	Associate	★☆☆☆☆ Found in Text Mining only
Cyclic neutropenia	Cyclic neutropenia	Pubtator	26475344	Associate	★☆☆☆☆ Found in Text Mining only
Gallbladder Carcinoma	Gallbladder cancer	BEFREE	31599189		★☆☆☆☆ Found in Text Mining only
Head and Neck Neoplasms	Head and neck neoplasm	Pubtator	26475344	Associate	★☆☆☆☆ Found in Text Mining only
Leukopenia	Leukopenia	BEFREE	22562553, 26475344		★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	CTD_human_DG	28284560		★☆☆☆☆ Found in Text Mining only
Liver Failure	Liver failure	Pubtator	34135558	Associate	★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of gallbladder	Gallbladder cancer	BEFREE	31599189		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of prostate	Prostate cancer	BEFREE	31247323		★☆☆☆☆ Found in Text Mining only
Neurodegenerative Diseases	Neurodegenerative disorder	Pubtator	32392803	Associate	★☆☆☆☆ Found in Text Mining only
Neutropenia	Neutropenia	BEFREE	22562553		★☆☆☆☆ Found in Text Mining only
Ovarian Neoplasms	Ovarian neoplasm	Pubtator	19724865	Associate	★☆☆☆☆ Found in Text Mining only
Prostate carcinoma	Prostate cancer	BEFREE	31247323		★☆☆☆☆ Found in Text Mining only
Spastic Paraplegia, Hereditary	Spastic paraplegia	BEFREE	24658845		★☆☆☆☆ Found in Text Mining only