GlyCosmos Portal

Annotation

Keyword

Acetylation
Cataract
Cholesterol metabolism
Disease variant
Heme
Mitochondrion inner membrane
Monooxygenase
Reference proteome
Steroid biosynthesis
Transit peptide

Proteins

Displaying 1 entry
UniProt	Protein Name
Q02318	5-beta-cholestane-3-alpha,7-alpha,12-alpha-triol 26-hydroxylase Cytochrome P-450C27/25 Cytochrome P450 27 Sterol 27-hydroxylase Vitamin D(3) 25-hydroxylase

Annotation information from UniProt.

Gene Ontology (GO)

Displaying **all 5** entries
GO Term	Evidence Code	PMID
sterol metabolic process
bile acid biosynthetic process	IDA IEA TAS	11412116 9660774
calcitriol biosynthetic process from calciol	IBA IDA	15465040
cholesterol catabolic process	IDA IEA	9660774
cholesterol metabolic process	IBA

GO Hierarchy

biological process

metabolic process [inference]

catabolic process [inference]

small molecule catabolic process [inference]

alcohol catabolic process [inference]

cholesterol catabolic process

organic substance catabolic process [inference]

lipid catabolic process [inference]

steroid catabolic process [inference]

sterol catabolic process [inference]

cholesterol catabolic process

organic cyclic compound catabolic process [inference]

steroid catabolic process [inference]

sterol catabolic process [inference]

cholesterol catabolic process

organic hydroxy compound catabolic process [inference]

sterol catabolic process [inference]

cholesterol catabolic process

alcohol catabolic process [inference]

cholesterol catabolic process

biosynthetic process [inference]

cellular biosynthetic process [inference]

vitamin biosynthetic process [inference]

fat-soluble vitamin biosynthetic process [inference]

vitamin D biosynthetic process [inference]

calcitriol biosynthetic process from calciol

organic acid biosynthetic process [inference]

carboxylic acid biosynthetic process [inference]

monocarboxylic acid biosynthetic process [inference]

bile acid biosynthetic process

small molecule biosynthetic process [inference]

vitamin biosynthetic process [inference]

fat-soluble vitamin biosynthetic process [inference]

vitamin D biosynthetic process [inference]

calcitriol biosynthetic process from calciol

organic acid biosynthetic process [inference]

carboxylic acid biosynthetic process [inference]

monocarboxylic acid biosynthetic process [inference]

bile acid biosynthetic process

alcohol biosynthetic process [inference]

polyol biosynthetic process [inference]

calcitriol biosynthetic process from calciol

organic substance biosynthetic process [inference]

lipid biosynthetic process [inference]

steroid biosynthetic process [inference]

bile acid biosynthetic process

vitamin D biosynthetic process [inference]

calcitriol biosynthetic process from calciol

organic acid biosynthetic process [inference]

carboxylic acid biosynthetic process [inference]

monocarboxylic acid biosynthetic process [inference]

bile acid biosynthetic process

organic cyclic compound biosynthetic process [inference]

steroid biosynthetic process [inference]

bile acid biosynthetic process

vitamin D biosynthetic process [inference]

calcitriol biosynthetic process from calciol

organic hydroxy compound biosynthetic process [inference]

bile acid biosynthetic process

vitamin D biosynthetic process [inference]

calcitriol biosynthetic process from calciol

alcohol biosynthetic process [inference]

polyol biosynthetic process [inference]

calcitriol biosynthetic process from calciol

cellular metabolic process [inference]

organic acid metabolic process [inference]

organic acid biosynthetic process [inference]

carboxylic acid biosynthetic process [inference]

monocarboxylic acid biosynthetic process [inference]

bile acid biosynthetic process

oxoacid metabolic process [inference]

carboxylic acid metabolic process [inference]

monocarboxylic acid metabolic process [inference]

bile acid metabolic process [inference]

bile acid biosynthetic process

monocarboxylic acid biosynthetic process [inference]

bile acid biosynthetic process

carboxylic acid biosynthetic process [inference]

monocarboxylic acid biosynthetic process [inference]

bile acid biosynthetic process

cellular biosynthetic process [inference]

vitamin biosynthetic process [inference]

fat-soluble vitamin biosynthetic process [inference]

vitamin D biosynthetic process [inference]

calcitriol biosynthetic process from calciol

organic acid biosynthetic process [inference]

carboxylic acid biosynthetic process [inference]

monocarboxylic acid biosynthetic process [inference]

bile acid biosynthetic process

primary metabolic process [inference]

lipid metabolic process [inference]

steroid metabolic process [inference]

steroid biosynthetic process [inference]

bile acid biosynthetic process

vitamin D biosynthetic process [inference]

calcitriol biosynthetic process from calciol

steroid catabolic process [inference]

sterol catabolic process [inference]

cholesterol catabolic process

bile acid metabolic process [inference]

bile acid biosynthetic process

sterol metabolic process

cholesterol metabolic process

cholesterol catabolic process

sterol catabolic process [inference]

cholesterol catabolic process

vitamin D metabolic process [inference]

vitamin D biosynthetic process [inference]

calcitriol biosynthetic process from calciol

vitamin D3 metabolic process [inference]

calcitriol biosynthetic process from calciol

lipid biosynthetic process [inference]

steroid biosynthetic process [inference]

bile acid biosynthetic process

vitamin D biosynthetic process [inference]

calcitriol biosynthetic process from calciol

lipid catabolic process [inference]

steroid catabolic process [inference]

sterol catabolic process [inference]

cholesterol catabolic process

small molecule metabolic process [inference]

alcohol metabolic process [inference]

polyol metabolic process [inference]

polyol biosynthetic process [inference]

calcitriol biosynthetic process from calciol

alcohol catabolic process [inference]

cholesterol catabolic process

alcohol biosynthetic process [inference]

polyol biosynthetic process [inference]

calcitriol biosynthetic process from calciol

secondary alcohol metabolic process [inference]

cholesterol metabolic process

cholesterol catabolic process

vitamin D3 metabolic process [inference]

calcitriol biosynthetic process from calciol

organic acid metabolic process [inference]

organic acid biosynthetic process [inference]

carboxylic acid biosynthetic process [inference]

monocarboxylic acid biosynthetic process [inference]

bile acid biosynthetic process

oxoacid metabolic process [inference]

carboxylic acid metabolic process [inference]

monocarboxylic acid metabolic process [inference]

bile acid metabolic process [inference]

bile acid biosynthetic process

monocarboxylic acid biosynthetic process [inference]

bile acid biosynthetic process

carboxylic acid biosynthetic process [inference]

monocarboxylic acid biosynthetic process [inference]

bile acid biosynthetic process

vitamin metabolic process [inference]

fat-soluble vitamin metabolic process [inference]

vitamin D metabolic process [inference]

vitamin D biosynthetic process [inference]

calcitriol biosynthetic process from calciol

vitamin D3 metabolic process [inference]

calcitriol biosynthetic process from calciol

fat-soluble vitamin biosynthetic process [inference]

vitamin D biosynthetic process [inference]

calcitriol biosynthetic process from calciol

vitamin biosynthetic process [inference]

fat-soluble vitamin biosynthetic process [inference]

vitamin D biosynthetic process [inference]

calcitriol biosynthetic process from calciol

small molecule catabolic process [inference]

alcohol catabolic process [inference]

cholesterol catabolic process

small molecule biosynthetic process [inference]

vitamin biosynthetic process [inference]

fat-soluble vitamin biosynthetic process [inference]

vitamin D biosynthetic process [inference]

calcitriol biosynthetic process from calciol

organic acid biosynthetic process [inference]

carboxylic acid biosynthetic process [inference]

monocarboxylic acid biosynthetic process [inference]

bile acid biosynthetic process

alcohol biosynthetic process [inference]

polyol biosynthetic process [inference]

calcitriol biosynthetic process from calciol

organic substance metabolic process [inference]

organic acid metabolic process [inference]

organic acid biosynthetic process [inference]

carboxylic acid biosynthetic process [inference]

monocarboxylic acid biosynthetic process [inference]

bile acid biosynthetic process

oxoacid metabolic process [inference]

carboxylic acid metabolic process [inference]

monocarboxylic acid metabolic process [inference]

bile acid metabolic process [inference]

bile acid biosynthetic process

monocarboxylic acid biosynthetic process [inference]

bile acid biosynthetic process

carboxylic acid biosynthetic process [inference]

monocarboxylic acid biosynthetic process [inference]

bile acid biosynthetic process

lipid metabolic process [inference]

steroid metabolic process [inference]

steroid biosynthetic process [inference]

bile acid biosynthetic process

vitamin D biosynthetic process [inference]

calcitriol biosynthetic process from calciol

steroid catabolic process [inference]

sterol catabolic process [inference]

cholesterol catabolic process

bile acid metabolic process [inference]

bile acid biosynthetic process

sterol metabolic process

cholesterol metabolic process

cholesterol catabolic process

sterol catabolic process [inference]

cholesterol catabolic process

vitamin D metabolic process [inference]

vitamin D biosynthetic process [inference]

calcitriol biosynthetic process from calciol

vitamin D3 metabolic process [inference]

calcitriol biosynthetic process from calciol

lipid biosynthetic process [inference]

steroid biosynthetic process [inference]

bile acid biosynthetic process

vitamin D biosynthetic process [inference]

calcitriol biosynthetic process from calciol

lipid catabolic process [inference]

steroid catabolic process [inference]

sterol catabolic process [inference]

cholesterol catabolic process

organic cyclic compound metabolic process [inference]

steroid metabolic process [inference]

steroid biosynthetic process [inference]

bile acid biosynthetic process

vitamin D biosynthetic process [inference]

calcitriol biosynthetic process from calciol

steroid catabolic process [inference]

sterol catabolic process [inference]

cholesterol catabolic process

bile acid metabolic process [inference]

bile acid biosynthetic process

sterol metabolic process

cholesterol metabolic process

cholesterol catabolic process

sterol catabolic process [inference]

cholesterol catabolic process

vitamin D metabolic process [inference]

vitamin D biosynthetic process [inference]

calcitriol biosynthetic process from calciol

vitamin D3 metabolic process [inference]

calcitriol biosynthetic process from calciol

organic cyclic compound catabolic process [inference]

steroid catabolic process [inference]

sterol catabolic process [inference]

cholesterol catabolic process

organic cyclic compound biosynthetic process [inference]

steroid biosynthetic process [inference]

bile acid biosynthetic process

vitamin D biosynthetic process [inference]

calcitriol biosynthetic process from calciol

organic substance catabolic process [inference]

lipid catabolic process [inference]

steroid catabolic process [inference]

sterol catabolic process [inference]

cholesterol catabolic process

organic cyclic compound catabolic process [inference]

steroid catabolic process [inference]

sterol catabolic process [inference]

cholesterol catabolic process

organic hydroxy compound catabolic process [inference]

sterol catabolic process [inference]

cholesterol catabolic process

alcohol catabolic process [inference]

cholesterol catabolic process

organic substance biosynthetic process [inference]

lipid biosynthetic process [inference]

steroid biosynthetic process [inference]

bile acid biosynthetic process

vitamin D biosynthetic process [inference]

calcitriol biosynthetic process from calciol

organic acid biosynthetic process [inference]

carboxylic acid biosynthetic process [inference]

monocarboxylic acid biosynthetic process [inference]

bile acid biosynthetic process

organic cyclic compound biosynthetic process [inference]

steroid biosynthetic process [inference]

bile acid biosynthetic process

vitamin D biosynthetic process [inference]

calcitriol biosynthetic process from calciol

organic hydroxy compound biosynthetic process [inference]

bile acid biosynthetic process

vitamin D biosynthetic process [inference]

calcitriol biosynthetic process from calciol

alcohol biosynthetic process [inference]

polyol biosynthetic process [inference]

calcitriol biosynthetic process from calciol

organic hydroxy compound metabolic process [inference]

alcohol metabolic process [inference]

polyol metabolic process [inference]

polyol biosynthetic process [inference]

calcitriol biosynthetic process from calciol

alcohol catabolic process [inference]

cholesterol catabolic process

alcohol biosynthetic process [inference]

polyol biosynthetic process [inference]

calcitriol biosynthetic process from calciol

secondary alcohol metabolic process [inference]

cholesterol metabolic process

cholesterol catabolic process

vitamin D3 metabolic process [inference]

calcitriol biosynthetic process from calciol

bile acid metabolic process [inference]

bile acid biosynthetic process

sterol metabolic process

cholesterol metabolic process

cholesterol catabolic process

sterol catabolic process [inference]

cholesterol catabolic process

vitamin D metabolic process [inference]

vitamin D biosynthetic process [inference]

calcitriol biosynthetic process from calciol

vitamin D3 metabolic process [inference]

calcitriol biosynthetic process from calciol

organic hydroxy compound catabolic process [inference]

sterol catabolic process [inference]

cholesterol catabolic process

alcohol catabolic process [inference]

cholesterol catabolic process

organic hydroxy compound biosynthetic process [inference]

bile acid biosynthetic process

vitamin D biosynthetic process [inference]

calcitriol biosynthetic process from calciol

alcohol biosynthetic process [inference]

polyol biosynthetic process [inference]

calcitriol biosynthetic process from calciol

cellular process [inference]

cellular metabolic process [inference]

organic acid metabolic process [inference]

organic acid biosynthetic process [inference]

carboxylic acid biosynthetic process [inference]

monocarboxylic acid biosynthetic process [inference]

bile acid biosynthetic process

oxoacid metabolic process [inference]

carboxylic acid metabolic process [inference]

monocarboxylic acid metabolic process [inference]

bile acid metabolic process [inference]

bile acid biosynthetic process

monocarboxylic acid biosynthetic process [inference]

bile acid biosynthetic process

carboxylic acid biosynthetic process [inference]

monocarboxylic acid biosynthetic process [inference]

bile acid biosynthetic process

cellular biosynthetic process [inference]

vitamin biosynthetic process [inference]

fat-soluble vitamin biosynthetic process [inference]

vitamin D biosynthetic process [inference]

calcitriol biosynthetic process from calciol

organic acid biosynthetic process [inference]

carboxylic acid biosynthetic process [inference]

monocarboxylic acid biosynthetic process [inference]

bile acid biosynthetic process

Displaying **all 3** entries
GO Term	Evidence Code	PMID
mitochondrial inner membrane	IEA
mitochondrial matrix
mitochondrion	IBA

GO Hierarchy

cellular component

cellular anatomical entity [inference]

membrane [inference]

organelle membrane [inference]

organelle inner membrane [inference]

mitochondrial inner membrane

mitochondrial membrane [inference]

mitochondrial inner membrane

membrane-enclosed lumen [inference]

organelle lumen [inference]

intracellular organelle lumen [inference]

mitochondrial matrix

organelle [inference]

membrane-bounded organelle [inference]

intracellular membrane-bounded organelle [inference]

mitochondrion

intracellular organelle [inference]

intracellular membrane-bounded organelle [inference]

mitochondrion

Displaying entries **1 - 5** of 8 in total

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GO Term	Evidence Code	PMID
cholestanetetraol 26-dehydrogenase activity	IEA
cholesterol 26-hydroxylase activity	IBA IDA	12077124 9660774
cholestanetriol 26-monooxygenase activity	IDA	11412116
steroid hydroxylase activity
3-alpha,7-alpha,12-alpha-trihydroxycholestan-26-al 26-oxidoreductase activity	IEA

GO Hierarchy

molecular function

catalytic activity [inference]

oxidoreductase activity [inference]

monooxygenase activity [inference]

steroid hydroxylase activity

cholesterol 26-hydroxylase activity

oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, NAD(P)H as one donor, and incorporation of one atom of oxygen [inference]

cholestanetriol 26-monooxygenase activity

vitamin D 25-hydroxylase activity [inference]

vitamin D3 25-hydroxylase activity

oxidoreductase activity, acting on CH-OH group of donors [inference]

oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor [inference]

cholestanetetraol 26-dehydrogenase activity

oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen [inference]

oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, NAD(P)H as one donor, and incorporation of one atom of oxygen [inference]

cholestanetriol 26-monooxygenase activity

oxidoreductase activity, acting on the aldehyde or oxo group of donors [inference]

oxidoreductase activity, acting on the aldehyde or oxo group of donors, NAD or NADP as acceptor [inference]

3-alpha,7-alpha,12-alpha-trihydroxycholestan-26-al 26-oxidoreductase activity

binding [inference]

ion binding [inference]

cation binding [inference]

metal ion binding [inference]

transition metal ion binding [inference]

iron ion binding

organic cyclic compound binding [inference]

tetrapyrrole binding [inference]

heme binding

Gene Ontology information from NCBI Gene and UniProt.

Human Protein Atlas

ENSG00000135929

Tissue with high expression from Human Protein Atlas. Tissues that are highly expressed are highlighted.

Data available from v23.0.proteinatlas.org. Image credit: Human Protein Atlas

KEGG BRITE Database

Orthology

K00488

Name

cholestanetriol 26-monooxygenase [EC:1.14.15.15]

References

1708392

Rhea

RHEA:34631

H⁺ + O₂ + 5β-cholestane-3α,7α,12α-triol

H₂O + (25R)-3α,7α,12α-trihydroxy-5β-cholestan-26-oate

Enzyme

1.14.15.15

PMID

Disease

Disease Ontology

Displaying entries **1 - 10** of **208** in total

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DO ID	Disease Name	Source
DOID:0050635	alternating hemiplegia of childhood	DisGeNET
DOID:0050841	focal hand dystonia	DisGeNET
DOID:0060041	autism spectrum disorder	DisGeNET
DOID:0060193	amyotrophic lateral sclerosis type 1	DisGeNET
DOID:0060281	photosensitive epilepsy	DisGeNET
DOID:0060357	chylomicron retention disease	DisGeNET
DOID:0060672	Grn-related frontotemporal lobar degeneration with Tdp43 inclusions	DisGeNET
DOID:0080348	Alzheimer's disease 1	DisGeNET
DOID:0080547	metabolic dysfunction-associated steatohepatitis	Alliance of Genome Resources
DOID:0110035	Alzheimer's disease 2	DisGeNET

The Human Phenotype Ontology

Displaying entries **1 - 10** of **108** in total

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HPO ID	HPO Term
HP:0000007	Autosomal recessive inheritance
HP:0000464	Abnormality of the neck
HP:0000492	Abnormal eyelid morphology
HP:0000505	Visual impairment
HP:0000518	Cataract
HP:0000520	Proptosis
HP:0000543	Optic disc pallor
HP:0000639	Nystagmus
HP:0000648	Optic atrophy
HP:0000649	Abnormality of visual evoked potentials

Displaying **all 2** entries
Disease ID	Disease Name
OMIM:213700	cerebrotendinous xanthomatosis
ORPHA:909	cerebrotendinous xanthomatosis

PubChem Disease

GHR Health Conditions

Cerebrotendinous xanthomatosis

MedGen Diseases

Cholestanol storage disease

OMIM Phenotypes

CEREBROTENDINOUS XANTHOMATOSIS; CTX

KEGG Diseases

Cerebrotendinous xanthomatosis

Gene-Disease-Co-Occurrences-in-Literature (PubChem)

LIPID MAPS Gene / Proteome Database

LMPD ID: LMP002471
Gene Name: cytochrome P450, family 27, subfamily A, polypeptide 1

Ortholog

Displaying entries **11 - 20** of 89 in total

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Species	Gene ID	Alliance of Genome Resources	Orthologous MAtrix
Latimeria chalumnae	102352926		LATCH16517
Danio rerio	322341	ZFIN:ZDB-GENE-030131-1060	DANRE44426
Danio rerio	402831	ZFIN:ZDB-GENE-081104-519	DANRE44361
Danio rerio	795106	ZFIN:ZDB-GENE-081104-511	DANRE44403
Danio rerio	565876	ZFIN:ZDB-GENE-081105-124
Danio rerio	723999	ZFIN:ZDB-GENE-060616-143
Ictalurus punctatus	108261972		ICTPU30715
Ictalurus punctatus	108266489		ICTPU30715
Ictalurus punctatus	108266490		ICTPU30714
Ictalurus punctatus	108266491		ICTPU30716

GlyTouCan

GlyComb

GlycoPOST

UniCarb-DR

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Other Information

Tools

Search Tools

Summary

External Links

Annotation

KEGG BRITE Database

PubChem Disease

LIPID MAPS Gene / Proteome Database

International Collaboration

Acknowledgements