GlyCosmos Portal

Annotation

Keyword

Cholesterol metabolism
Disease variant
Heme
Hereditary spastic paraplegia
Intrahepatic cholestasis
Microsome
Monooxygenase
Reference proteome
Steroid biosynthesis
Steroid metabolism
Transmembrane helix

Proteins

Displaying **all 2** entries
UniProt	Protein Name
O75881	24-hydroxycholesterol 7-alpha-hydroxylase 25/26-hydroxycholesterol 7-alpha-hydroxylase 3-hydroxysteroid 7-alpha hydroxylase Oxysterol 7-alpha-hydroxylase
Q05C57

Annotation information from UniProt.

Gene Ontology (GO)

Displaying entries **1 - 5** of 10 in total

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GO Term	Evidence Code	PMID
intracellular estrogen receptor signaling pathway	IEA
sterol metabolic process
bile acid biosynthetic process	IBA IEA TAS
cholesterol homeostasis	IBA
prostate gland epithelium morphogenesis	IEA

GO Hierarchy

biological process

immune system process [inference]

leukocyte migration [inference]

leukocyte chemotaxis [inference]

lymphocyte chemotaxis [inference]

B cell chemotaxis

mononuclear cell migration [inference]

lymphocyte migration [inference]

lymphocyte chemotaxis [inference]

B cell chemotaxis

metabolic process [inference]

biosynthetic process [inference]

cellular biosynthetic process [inference]

organic acid biosynthetic process [inference]

carboxylic acid biosynthetic process [inference]

monocarboxylic acid biosynthetic process [inference]

bile acid biosynthetic process

small molecule biosynthetic process [inference]

organic acid biosynthetic process [inference]

carboxylic acid biosynthetic process [inference]

monocarboxylic acid biosynthetic process [inference]

bile acid biosynthetic process

organic substance biosynthetic process [inference]

lipid biosynthetic process [inference]

steroid biosynthetic process [inference]

bile acid biosynthetic process

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

organic hydroxy compound biosynthetic process [inference]

bile acid biosynthetic process

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]

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

bile acid metabolic process [inference]

bile acid biosynthetic process

sterol metabolic process

cholesterol metabolic process

lipid biosynthetic process [inference]

steroid biosynthetic process [inference]

bile acid biosynthetic process

small molecule metabolic process [inference]

alcohol metabolic process [inference]

secondary alcohol metabolic process [inference]

cholesterol metabolic process

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

small molecule biosynthetic process [inference]

organic acid biosynthetic process [inference]

carboxylic acid biosynthetic process [inference]

monocarboxylic acid biosynthetic process [inference]

bile acid biosynthetic process

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

bile acid metabolic process [inference]

bile acid biosynthetic process

sterol metabolic process

cholesterol metabolic process

lipid biosynthetic process [inference]

steroid biosynthetic process [inference]

bile acid biosynthetic process

organic cyclic compound metabolic process [inference]

steroid metabolic process [inference]

steroid biosynthetic process [inference]

bile acid biosynthetic process

bile acid metabolic process [inference]

bile acid biosynthetic process

sterol metabolic process

cholesterol metabolic process

organic cyclic compound biosynthetic process [inference]

steroid biosynthetic process [inference]

bile acid biosynthetic process

organic substance biosynthetic process [inference]

lipid biosynthetic process [inference]

steroid biosynthetic process [inference]

bile acid biosynthetic process

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

organic hydroxy compound biosynthetic process [inference]

bile acid biosynthetic process

organic hydroxy compound metabolic process [inference]

alcohol metabolic process [inference]

secondary alcohol metabolic process [inference]

cholesterol metabolic process

bile acid metabolic process [inference]

bile acid biosynthetic process

sterol metabolic process

cholesterol metabolic process

organic hydroxy compound biosynthetic process [inference]

bile acid biosynthetic process

cellular process [inference]

signal transduction [inference]

hormone-mediated signaling pathway [inference]

steroid hormone mediated signaling pathway [inference]

intracellular steroid hormone receptor signaling pathway [inference]

intracellular estrogen receptor signaling pathway

intracellular receptor signaling pathway [inference]

intracellular steroid hormone receptor signaling pathway [inference]

intracellular estrogen receptor signaling pathway

cell population proliferation [inference]

epithelial cell proliferation

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]

organic acid biosynthetic process [inference]

carboxylic acid biosynthetic process [inference]

monocarboxylic acid biosynthetic process [inference]

bile acid biosynthetic process

cell motility [inference]

cell migration [inference]

leukocyte migration [inference]

leukocyte chemotaxis [inference]

lymphocyte chemotaxis [inference]

B cell chemotaxis

mononuclear cell migration [inference]

lymphocyte migration [inference]

lymphocyte chemotaxis [inference]

B cell chemotaxis

cell chemotaxis [inference]

leukocyte chemotaxis [inference]

lymphocyte chemotaxis [inference]

B cell chemotaxis

reproductive process [inference]

developmental process involved in reproduction [inference]

prostate gland epithelium morphogenesis

developmental process [inference]

developmental process involved in reproduction [inference]

prostate gland epithelium morphogenesis

anatomical structure morphogenesis [inference]

tissue morphogenesis [inference]

morphogenesis of an epithelium [inference]

prostate gland epithelium morphogenesis

locomotion [inference]

taxis [inference]

chemotaxis [inference]

cell chemotaxis [inference]

leukocyte chemotaxis [inference]

lymphocyte chemotaxis [inference]

B cell chemotaxis

homeostatic process [inference]

chemical homeostasis [inference]

lipid homeostasis [inference]

sterol homeostasis [inference]

cholesterol homeostasis

biological regulation [inference]

regulation of biological process [inference]

regulation of signaling [inference]

regulation of signal transduction [inference]

negative regulation of signal transduction [inference]

negative regulation of intracellular steroid hormone receptor signaling pathway [inference]

negative regulation of intracellular estrogen receptor signaling pathway

regulation of intracellular steroid hormone receptor signaling pathway [inference]

negative regulation of intracellular steroid hormone receptor signaling pathway [inference]

negative regulation of intracellular estrogen receptor signaling pathway

regulation of intracellular estrogen receptor signaling pathway [inference]

negative regulation of intracellular estrogen receptor signaling pathway

negative regulation of signaling [inference]

negative regulation of signal transduction [inference]

negative regulation of intracellular steroid hormone receptor signaling pathway [inference]

negative regulation of intracellular estrogen receptor signaling pathway

positive regulation of biological process [inference]

positive regulation of cellular process [inference]

positive regulation of cell population proliferation [inference]

positive regulation of epithelial cell proliferation

negative regulation of biological process [inference]

negative regulation of signaling [inference]

negative regulation of signal transduction [inference]

negative regulation of intracellular steroid hormone receptor signaling pathway [inference]

negative regulation of intracellular estrogen receptor signaling pathway

negative regulation of cellular process [inference]

negative regulation of cell communication [inference]

negative regulation of signal transduction [inference]

negative regulation of intracellular steroid hormone receptor signaling pathway [inference]

negative regulation of intracellular estrogen receptor signaling pathway

negative regulation of response to stimulus [inference]

negative regulation of signal transduction [inference]

negative regulation of intracellular steroid hormone receptor signaling pathway [inference]

negative regulation of intracellular estrogen receptor signaling pathway

regulation of response to stimulus [inference]

regulation of signal transduction [inference]

negative regulation of signal transduction [inference]

negative regulation of intracellular steroid hormone receptor signaling pathway [inference]

negative regulation of intracellular estrogen receptor signaling pathway

regulation of intracellular steroid hormone receptor signaling pathway [inference]

negative regulation of intracellular steroid hormone receptor signaling pathway [inference]

negative regulation of intracellular estrogen receptor signaling pathway

regulation of intracellular estrogen receptor signaling pathway [inference]

negative regulation of intracellular estrogen receptor signaling pathway

negative regulation of response to stimulus [inference]

negative regulation of signal transduction [inference]

negative regulation of intracellular steroid hormone receptor signaling pathway [inference]

negative regulation of intracellular estrogen receptor signaling pathway

regulation of cellular process [inference]

signal transduction [inference]

hormone-mediated signaling pathway [inference]

steroid hormone mediated signaling pathway [inference]

intracellular steroid hormone receptor signaling pathway [inference]

intracellular estrogen receptor signaling pathway

intracellular receptor signaling pathway [inference]

intracellular steroid hormone receptor signaling pathway [inference]

intracellular estrogen receptor signaling pathway

regulation of cell communication [inference]

regulation of signal transduction [inference]

negative regulation of signal transduction [inference]

negative regulation of intracellular steroid hormone receptor signaling pathway [inference]

negative regulation of intracellular estrogen receptor signaling pathway

regulation of intracellular steroid hormone receptor signaling pathway [inference]

negative regulation of intracellular steroid hormone receptor signaling pathway [inference]

negative regulation of intracellular estrogen receptor signaling pathway

regulation of intracellular estrogen receptor signaling pathway [inference]

negative regulation of intracellular estrogen receptor signaling pathway

negative regulation of cell communication [inference]

negative regulation of signal transduction [inference]

negative regulation of intracellular steroid hormone receptor signaling pathway [inference]

negative regulation of intracellular estrogen receptor signaling pathway

regulation of cell population proliferation [inference]

positive regulation of cell population proliferation [inference]

positive regulation of epithelial cell proliferation

regulation of epithelial cell proliferation [inference]

positive regulation of epithelial cell proliferation

positive regulation of cellular process [inference]

positive regulation of cell population proliferation [inference]

positive regulation of epithelial cell proliferation

negative regulation of cellular process [inference]

negative regulation of cell communication [inference]

negative regulation of signal transduction [inference]

negative regulation of intracellular steroid hormone receptor signaling pathway [inference]

negative regulation of intracellular estrogen receptor signaling pathway

Displaying 1 entry
GO Term	Evidence Code	PMID
endoplasmic reticulum membrane

GO Hierarchy

cellular component

cellular anatomical entity [inference]

membrane [inference]

organelle membrane [inference]

endoplasmic reticulum membrane

Displaying entries **1 - 5** of 6 in total

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GO Term	Evidence Code	PMID
25-hydroxycholesterol 7alpha-hydroxylase activity	IEA
oxysterol 7-alpha-hydroxylase activity	IBA ISS TAS
iron ion binding	IEA
27-hydroxycholesterol 7-alpha-monooxygenase activity	IEA
heme binding	IEA

GO Hierarchy

molecular function

catalytic activity [inference]

oxidoreductase activity [inference]

monooxygenase activity [inference]

steroid hydroxylase activity [inference]

oxysterol 7-alpha-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]

oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen [inference]

24-hydroxycholesterol 7alpha-hydroxylase activity

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

oxysterol 7-alpha-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]

oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen [inference]

24-hydroxycholesterol 7alpha-hydroxylase 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

ENSG00000172817

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

K07430

Name

25/26-hydroxycholesterol 7alpha-hydroxylase [EC:1.14.14.29]

References

Rhea

RHEA:19041

O₂ + (25R)-cholest-5-ene-3β,26-diol

H₂O + H⁺ + (25R)-cholest-5-en-3β,7α,26-triol

Enzyme

1.14.14.29

PMID

RHEA:24308

O₂ + 25-hydroxycholesterol

H₂O + H⁺ + 7α,25-dihydroxycholesterol

Enzyme

1.14.14.29

PMID

RHEA:46124

O₂ + (24S)-hydroxycholesterol

H₂O + H⁺ + (24S)-7α-dihydroxycholesterol

Enzyme

1.14.14.26

PMID

Disease

Disease Ontology

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DO ID	Disease Name	Source
DOID:0060249	scoliosis	DisGeNET
DOID:0014667	disease of metabolism	DisGeNET
DOID:0050589	inflammatory bowel disease	DisGeNET
DOID:0050674	congenital bile acid synthesis defect	DisGeNET
DOID:0050753	cerebellar ataxia	DisGeNET
DOID:0050886	Troyer syndrome	DisGeNET DisGeNET
DOID:0060180	colitis	DisGeNET
DOID:0060189	ileitis	DisGeNET
DOID:0060190	ileocolitis	DisGeNET
DOID:0060245	Mast syndrome	DisGeNET

The Human Phenotype Ontology

Displaying entries **1 - 10** of 62 in total

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HPO ID	HPO Term
HP:0000007	Autosomal recessive inheritance
HP:0000020	Urinary incontinence
HP:0000079	Abnormality of the urinary system
HP:0000407	Sensorineural hearing impairment
HP:0000518	Cataract
HP:0000639	Nystagmus
HP:0000648	Optic atrophy
HP:0000952	Jaundice
HP:0001258	Spastic paraplegia
HP:0001260	Dysarthria

Displaying **all 4** entries
Disease ID	Disease Name
ORPHA:79302	congenital bile acid synthesis defect 3
ORPHA:100986	hereditary spastic paraplegia 5A
OMIM:270800	hereditary spastic paraplegia 5A
OMIM:613812	congenital bile acid synthesis defect 3

PubChem Disease

GHR Health Conditions

Spastic paraplegia type 5A

MedGen Diseases

OMIM Phenotypes

KEGG Diseases

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

LIPID MAPS Gene / Proteome Database

LMPD ID: LMP000599
Gene Name: cytochrome P450, family 7, subfamily B, polypeptide 1

Ortholog

Displaying entries **1 - 10** of 75 in total

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Species	Gene ID	Alliance of Genome Resources	Orthologous MAtrix
Latimeria chalumnae	102345159		LATCH06628
Danio rerio	570455	ZFIN:ZDB-GENE-070912-293	DANRE29627
Ictalurus punctatus	108270649		ICTPU14408
Electrophorus electricus	113584113		ELEEL32642
Salmo trutta	115156926		SALTR63802
Salmo trutta	115169796		SALTR40879
Gadus morhua	115549407		GADMO56730
Oryzias latipes	101173499		ORYLA06497
Haplochromis burtoni	102293664		HAPBU31007
Astatotilapia calliptera	113010228		ASTCA15207

GlyTouCan

GlyComb

GlycoPOST

UniCarb-DR

All Resources

Other Information

Tools

Search Tools

Summary

External Links

Annotation

KEGG BRITE Database

PubChem Disease

LIPID MAPS Gene / Proteome Database

International Collaboration

Acknowledgements