CYP39A1 - cytochrome P450 family 39 subfamily A member 1 Gene

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 51302

About CYP39A1

Cytogenetic location: 6p12.3 Genomic coordinates (GRCh38): 6:46,549,580-46,652,818 (from NCBI)

This gene has 5 transcripts (splice variants), 153 orthologues and 2 paralogues. Broad expression in liver (RPKM 10.7), prostate (RPKM 4.4) and 14 other tissues.

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 reticulum protein is involved in the conversion of Cholesterol to bile acids. Its substrates include the oxysterols 25-hydroxycholesterol, 27-hydroxycholesterol and 24-hydroxycholesterol. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Jul 2013]

CYP39A1 Products (3)

mRNA Protein Name
NM_001278738.2 NP_001265667.1 24-hydroxycholesterol 7-alpha-hydroxylase isoform 2
NM_001278739.2 NP_001265668.1 24-hydroxycholesterol 7-alpha-hydroxylase isoform 3
NM_016593.5 NP_057677.2 24-hydroxycholesterol 7-alpha-hydroxylase isoform 1

Gene Ontology

  • Molecular Function
  • Biological Process
Molecular Function GO Annotation Evidence References Source
enables oxysterol 7-alpha-hydroxylase activity IDA
IDA: Inferred from direct assay
10748047 GOA
enables protein binding IPI
IPI: Inferred from physical interaction
28514442 GOA
Biological Process GO Annotation Evidence References Source
involved in bile acid biosynthetic process IDA
IDA: Inferred from direct assay
10748047 GOA
EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

CYP39A1 Protein Structure

p450

p450: Cytochrome P450 (29 - 457)

  • 0
  • 100
  • 200
  • 300
  • 400
  • 469 a.a.
Protein Preferred Names Protein Names

24-hydroxycholesterol 7-alpha-hydroxylase

  • cytochrome P450, family 39, subfamily A, polypeptide 1

CYP39A1 Protein-protein interaction Information

Type
Protein Name Protein ID Interactor Interactor Species Interactor ID Detection Method References
Intra
CYP39A1 Q9NYL5 HERC3 Homo sapiens Q15034
Anti Tag CoIP
33961781
Intra
CYP39A1 Q9NYL5 HERC3 Homo sapiens Q15034
Anti Tag CoIP
28514442
Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases Alias
Exfoliation Syndrome

  • Pseudoexfoliation Glaucoma

  • Pseudoexfoliation Syndrome

  • Exfoliation Syndrome, Susceptibility To

  • XFS

  • Exfoliation Glaucoma

  • Xfg

  • Pseudoexfoliation Of The Lens

  • Pexg

  • Pexs

  • Exfoliative Syndrome

  • Glaucoma Capsulare

  • Pex

  • Pseudo-Exfoliation Syndrome
Cerebrotendinous Xanthomatosis

  • CTX

  • Cerebral Cholesterinosis

  • Cholestanol Storage Disease

  • Xanthomatosis, Cerebrotendinous

  • Sterol 27-Hydroxylase Deficiency

  • Xanthomatosis Cerebrotendinous

  • Cerebrotendinous Cholesterinosis

  • Cholestanolosis

  • Van Bogaert-Scherer-Epstein Disease
Cholestasis, Benign Recurrent Intrahepatic, 1

  • Benign Recurrent Intrahepatic Cholestasis

  • BRIC1

  • Summerskill Syndrome

  • Bric

  • Summerskill-Walshe-Tygstrup Syndrome

  • Cholestasis, Benign Recurrent Intrahepatic

  • Benign Recurrent Intrahepatic Cholestasis 1

  • Benign Recurrent Intrahepatic Cholestasis Type 1

  • Bric Type 1

  • Low Gamma-Gt Familial Intrahepatic Cholestasis

  • Recurrent Familial Intrahepatic Cholestasis

  • Cholestasis, Benign Recurrent Intrahepatic 1

  • Mild Atp8b1 Deficiency

  • Recurrent Familial Intrahepatic Cholestasis 1

  • Abcb11-Related Intrahepatic Cholestasis

  • Atp8b1-Related Intrahepatic Cholestasis

  • Cholestasis, Intrahepatic, Recurrent, Benign, Type 1

  • Progressive Intrahepatic Cholestasis

  • Cholestasis, Progressive Familial Intrahepatic 3

  • Bric - [Benign Recurrent Intrahepatic Cholestasis]
Niemann-Pick Disease, Type C1

  • Niemann-Pick Disease, Type C

  • NPC1

  • Niemann-Pick Disease, Type D

  • Niemann-Pick Disease Type C1

  • Niemann-Pick Disease With Cholesterol Esterification Block

  • Niemann-Pick Disease, Subacute Juvenile Form

  • Neurovisceral Storage Disease With Vertical Supranuclear Ophthalmoplegia

  • Npc

  • Niemann-Pick Disease, Chronic Neuronopathic Form

  • Niemann-Pick Disease Without Sphingomyelinase Deficiency

  • Niemann-Pick Disease Type C

  • Niemann-Pick Disease Type D

  • Niemann-Pick C1 Disease

  • Niemann-Pick Disease C1

  • Niemann-Pick Disease Chronic Neuronopathic Form

  • Niemann-Pick Disease Nova Scotian Type

  • Niemann-Pick Disease Subacute Juvenile Form

  • Niemann-Pick Disease Type Ii

  • Niemann-Picks Disease Type C
Diseases Alias
Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Related Agents

  • Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (1)
Cat. No. Product Name
Effect
Purity
Rare Diseases
HY-RS03470 CYP39A1 Human Pre-designed siRNA Set A Pre-designed Set / Unkown

Orthologs Information

Species Symbol Source ID
Mus musculus CYP39A1 MGD MGI:1927096
Felis catus CYP39A1 VGNC VGNC:103343
Rattus norvegicus CYP39A1 RGD RGD:1307471
Bos taurus CYP39A1 VGNC VGNC:110264
Canis familiaris CYP39A1 VGNC VGNC:50359
Others CYP39A1 NCBI