Gene Ontology annotation through association of InterPro records with GO terms
Manual transfer of experimentally-verified manual GO annotation data to orthologs by curator judgment of sequence similarity
Annotation inferences using phylogenetic trees
Gene Ontology annotation based on UniProtKB/Swiss-Prot Subcellular Location vocabulary mapping, accompanied by conservative changes to GO terms applied by UniProt
Automatic transfer of experimentally verified manual GO annotation data to orthologs using Ensembl Compara
Electronic Gene Ontology annotations created by ARBA machine learning models
Combined Automated Annotation using Multiple IEA Methods
Structure and functions of human oxysterol 7alpha-hydroxylase cDNAs and gene CYP7B1.
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Human CYP7B1 expressed in 293/T cells 7-alpha-hydroxylates 27-hydroxycholesterol and DHEA; the enzyme has broad substrate specificity for sterol metabolites and is expressed in steroidogenic and bile-acid-handling tissues.
"The human oxysterol 7alpha-hydroxylase transiently expressed in 293/T cells was able to catalyze 7alpha-hydroxylation of 27-hydroxycholesterol and dehydroepiandrosterone (DHEA)."
Architecture of the human interactome defines protein communities and disease networks.
Dual proteome-scale networks reveal cell-specific remodeling of the human interactome.
Identification of a new inborn error in bile acid synthesis: mutation of the oxysterol 7alpha-hydroxylase gene causes severe neonatal liver disease.
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Loss of microsomal oxysterol 7-alpha-hydroxylase (CYP7B1) activity causes a new inborn error of bile acid synthesis (CBAS3), with massive 27-hydroxycholesterol accumulation and severe neonatal cholestatic liver disease; establishes CYP7B1 in the acidic bile-acid pathway.
"a deficiency in 7alpha-hydroxylation due to a mutation in the gene for the microsomal oxysterol 7alpha-hydroxylase enzyme, active in the acidic pathway for bile acid synthesis"
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The original WT/R388Stop expression comparison uses mouse CYP7B1 in cultured cells, distinct from separate positive human-clone and human liver assays.
"truncated protein was inactive when expressed in 293 cells"
27-hydroxycholesterol is 7alpha-hydroxylated
CYP7B1 7-hydroxylates 25OH-CHOL
Synthesis of bile acids and bile salts
Synthesis of bile acids and bile salts via 27-hydroxycholesterol
Defective CYP7B1 does not 7-hydroxylate 25OH-CHOL
UniProtKB entry O75881 (CP7B1_HUMAN), Cytochrome P450 7B1
Expression cloning of an oxysterol 7alpha-hydroxylase selective for 24-hydroxycholesterol.
The bile acid synthetic gene 3beta-hydroxy-Delta(5)-C(27)-steroid oxidoreductase is mutated in progressive intrahepatic cholestasis.
The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
Regulation of cholesterol 7 alpha-hydroxylase in the liver. Cloning, sequencing, and regulation of cholesterol 7 alpha-hydroxylase mRNA.
Sequence alterations within CYP7B1 implicate defective cholesterol homeostasis in motor-neuron degeneration.
CYP7B1 mutations in pure and complex forms of hereditary spastic paraplegia type 5.
Glucose stimulates cholesterol 7alpha-hydroxylase gene transcription in human hepatocytes.
Clinical phenotype variability in patients with hereditary spastic paraplegia type 5 associated with CYP7B1 mutations.
Oxysterol gradient generation by lymphoid stromal cells guides activated B cell movement during humoral responses.
CYP7B1: novel mutations and magnetic resonance spectroscopy abnormalities in hereditary spastic paraplegia type 5A.
An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome.
Human steroid and oxysterol 7α-hydroxylase CYP7B1: substrate specificity, azole binding and misfolding of clinically relevant mutants.
Mutational analysis of the CYP7B1, PNPLA6 and C19orf12 genes in autosomal recessive hereditary spastic paraplegia.
Genetic and phenotypic characterization of complex hereditary spastic paraplegia.
CYP7B1 source evidence and assay scope