CYP7B1 - cytochrome P450 family 7 subfamily B member 1 Gene

Also Known as CP7B; CBAS3; SPG5A

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 9420

About CYP7B1

Cytogenetic location: 8q12.3 Genomic coordinates (GRCh38): 8:64,586,575-64,798,737 (from NCBI)

This gene has 2 transcripts (splice variants), 207 orthologues, 2 paralogues and is associated with 4 phenotypes. Ubiquitous expression in thyroid (RPKM 2.3), liver (RPKM 1.9) and 23 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 membrane protein catalyzes the first reaction in the Cholesterol catabolic pathway of extrahepatic tissues, which converts Cholesterol to bile acids. This enzyme likely plays a minor role in total bile acid synthesis, but may also be involved in the development of atherosclerosis, neurosteroid metabolism and sex hormone synthesis. Mutations in this gene have been associated with hereditary spastic paraplegia (SPG5 or HSP), an autosomal recessive disorder. [provided by RefSeq, Apr 2016]

CYP7B1 Products (2)

mRNA	Protein	Name
NM_001324112.2	NP_001311041.1	cytochrome P450 7B1 isoform 2
NM_004820.5	NP_004811.1	cytochrome P450 7B1 isoform 1

Gene Ontology

Molecular Function

Molecular Function GO Annotation	Evidence	References	Source
enables protein binding	IPI IPI: Inferred from physical interaction	28514442	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

CYP7B1 Protein Structure

p450

0
100
200
300
400
506 a.a.

Protein Preferred Names	Protein Names
cytochrome P450 7B1	24-hydroxycholesterol 7-alpha-hydroxylase

CYP7B1 Protein-protein interaction Information

Type	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	References
Intra	CYP7B1	O75881	UBB	Homo sapiens	P0CG47	Anti Tag CoIP	33961781
Intra	CYP7B1	O75881	UBB	Homo sapiens	P0CG47	Anti Tag CoIP	28514442

Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases	Alias
Spastic Paraplegia 5a, Autosomal Recessive	SPG5A Hereditary Spastic Paraplegia 5a Autosomal Recessive Spastic Paraplegia 5a Autosomal Recessive Spastic Paraplegia Type 5a Spastic Paraplegia 5a Spastic Paraplegia Type 5a Spastic Paraplegia Type 5a, Recessive Autosomal Recessive Spastic Paraplegia Spastic Paraplegia-5a Paraplegia, Spastic, Autosomal Recessive, Type 5a
Bile Acid Synthesis Defect, Congenital, 3	Congenital Bile Acid Synthesis Defect 3 CBAS3 Oxysterol 7-Alpha-Hydroxylase Deficiency Congenital Bile Acid Synthesis Defect Type 3 Basd3 Bile Acid Synthesis Defect, Congenital, Type 3
Hereditary Spastic Paraplegia	Familial Spastic Paraplegia Hereditary Spastic Paraparesis Strumpell-Lorrain Disease Familial Spastic Paraparesis Hsp Spg Strümpell-Lorrain Disease Spastic Paraplegia, Hereditary French Settlement Disease Strumpell-Lorrain Syndrome Fsp Spastic Paraplegia, Familial Spastic Paraplegia Hereditary Spastic Paraplegia 3, Autosomal Dominant Spastic Paraparesis Hereditary Spastic Paralysis Familial Spastic Paralysis Hereditary Spastic Ataxia
Spastic Ataxia	Spax Ataxia, Spastic
Paraplegia	Paraplegia, Lower Severe Or Complete Loss Of Motor Function In The Lower Extremities And Lower Portions Of The Trunk
Congenital Bile Acid Synthesis Defect	3-Beta-Hydroxy-Delta-5-C27-Steroid Oxidoreductase Deficiency Cba Cholestasis With Delta(4)-3-Oxosteroid-5-Beta-Reductase Deficiency Basd Bile Acid Synthesis Defect, Congenital, 1
Spinocerebellar Ataxia, Autosomal Recessive 27	SCAR27 Autosomal Recessive Spinocerebellar Ataxia 27 Spinocerebellar Ataxia, Autosomal Recessive, 27
Spastic Paraplegia 9b, Autosomal Recessive	SPG9B Autosomal Recessive Complex Spastic Paraplegia Type 9b Hereditary Spastic Paraplegia 9b Autosomal Recessive Spastic Paraplegia 9b Autosomal Recessive Spastic Paraplegia Type 9b Ar-Spg9b
Spastic Paraplegia 3, Autosomal Dominant	SPG3A Strumpell Disease Hereditary Spastic Paraplegia 3a SPG3 Fsp1 Autosomal Dominant Spastic Paraplegia Type 3 Familial Spastic Paraplegia, Autosomal Dominant, 1 Spastic Paraplegia 3a, Autosomal Dominant Autosomal Dominant Familial Spastic Paraplegia 1 Autosomal Dominant Spastic Paraplegia 3 Spastic Paraplegia 3 Familial Spastic Paraplegia Autosomal Dominant 1 Strumpell-Lorrain Syndrome Paraplegia, Spastic, Autosomal Dominant, Type 3a Spastic Paraplegia, Hereditary
Cerebrotendinous Xanthomatosis	CTX Cerebral Cholesterinosis Cholestanol Storage Disease Xanthomatosis, Cerebrotendinous Sterol 27-Hydroxylase Deficiency Xanthomatosis Cerebrotendinous Cerebrotendinous Cholesterinosis Cholestanolosis Van Bogaert-Scherer-Epstein Disease
Spastic Paraplegia 82, Autosomal Recessive	SPG82 Hereditary Spastic Paraplegia 82 Spastic Paraplegia 82 Autosomal Recessive Doid:0112343
Spastic Paraplegia 78, Autosomal Recessive	SPG78 Autosomal Recessive Spastic Paraplegia Type 78 Hereditary Spastic Paraplegia 78 Spastic Paraplegia 78 Autosomal Recessive Doid:0112348
Spastic Paraplegia 44, Autosomal Recessive	SPG44 Hereditary Spastic Paraplegia 44 Autosomal Recessive Spastic Paraplegia 44 Autosomal Recessive Spastic Paraplegia Type 44 Paraplegia, Spastic, Type 44, Autosomal Recessive
Spastic Paraplegia 9a, Autosomal Dominant	Hereditary Spastic Paraplegia 9a SPG9A Cataracts With Motor Neuronopathy, Short Stature, And Skeletal Abnormalities Ad-Spg9a Spastic Paraparesis-Amyopathy-Cataracts-Gastroesophageal Reflux Syndrome Spastic Paraparesis With Amyotrophy, Cataracts, And Gastroesophageal Reflux Autosomal Dominant Complex Spastic Paraplegia Type 9a Autosomal Dominant Spastic Paraplegia 9a Cataracts Motor Neuropathy-Short Stature-Skeletal Anomalies Syndrome Cataracts With Motor Neuronopathy, Short Stature And Skeletal Abnormalities Spastic Paraparesis With Amyopathy, Cataracts And Gastroesophageal Reflux Autosomal Dominant Spastic Paraplegia Type 9a Cataracts-Motor Neuropathy-Short Stature-Skeletal Anomalies Syndrome Spastic Paraparesis With Amyopathy, Cataracts, And Gastroesophageal Reflux Spastic Paraplegia 9, Autosomal Dominant
Spastic Paraplegia 64, Autosomal Recessive	SPG64 Hereditary Spastic Paraplegia 64 Autosomal Recessive Spastic Paraplegia Type 64 Autosomal Recessive Spastic Paraplegia 64 Paraplegia, Spastic, Type 64, Autosomal Recessive
Hereditary Spastic Paraplegia 35	Autosomal Recessive Spastic Paraplegia Type 35 Spg35 Autosomal Recessive Spastic Paraplegia 35 Fahn Fatty Acid Hydroxylase-Associated Neurodegeneration Leukodystrophy, Dysmyelinating And Spastic Paraparesis With Or Without Dystonia
Spastic Paraplegia 10, Autosomal Dominant	SPG10 Hereditary Spastic Paraplegia 10 Autosomal Dominant Spastic Paraplegia Type 10 Spastic Paraplegia 10 Spastic Paraplegia 10 With Or Without Peripheral Neuropathy Autosomal Dominant Spastic Paraplegia 10 Autosomal Dominant Spastic Paraplegia Spastic Paraplegia, Autosomal Dominant Paraplegia, Spastic, Autosomal Dominant, Type 10
Masa Syndrome	L1 Syndrome Crash Syndrome X-Linked Hydrocephalus Syndrome SPG1 Gareis-Mason Syndrome Spastic Paraplegia 1, X-Linked Corpus Callosum Hypoplasia-Retardation-Adducted Thumbs-Spasticity-Hydrocephalus Syndrome L1cam Syndrome Spastic Paraplegia 1 Mental Retardation, Aphasia, Shuffling Gait, And Adducted Thumbs Clasped Thumb And Mental Retardation Thumb, Congenital Clasped, With Mental Retardation Adducted Thumb With Mental Retardation Hereditary Spastic Paraplegia 1 X-Linked Complicated Hereditary Spastic Paraplegia Type 1 X-Linked Corpus Callosum Agenesis X-Linked Spastic Paraplegia 1 L1 Disease X-Linked Intellectual Disability - Corpus Callosum Agenesis - Spastic Quadriparesis Adducted Thumb With Intellectual Disability Clasped Thumb And Intellectual Disability Intellectual Disability Aphasia Shuffling Gait Adducted Thumbs Thumb Congenital Clasped With Intellectual Disability X-Linked Intellectual Disability-Corpus Callosum Agenesis-Spastic Quadriparesis Syndrome Adducted Thumbs-Mental Retardation Syndrome Corpus Callosum Hypoplasia, Mental Retardation, Adducted Thumbs, Spastic Paraplegia, Hydrocephalus Syndrome Mental Retardation-Clasped Thumb Syndrome Intellectual Disability-Aphasia-Shuffling Gait-Adducted Thumbs Syndrome Spastic Paraplegia Type 1, X-Linked MASA Corpus Callosum Hypoplasia-Psychomotor Retardation, Adducted Thumbs-Spastic Paraparesis-Hydrocephalus Crash Masa Syndrome
Spastic Paraplegia 2, X-Linked	SPG2 Hereditary Spastic Paraplegia 2 Sppx2 Spastic Paraplegia Type 2 Spastic Paraplegia 2 Hereditary X-Linked Recessive Spastic Paraplegia X-Linked Spastic Paraplegia 2 X Linked Recessive Hereditary Spastic Paraplegia Spastic Gait Type 2 Spastic Paraparesis Type 2 X-Linked Spastic Paraplegia Type 2 Spastic Paraplegia Type 2, X-Linked Spastic Paraplegia-2 Paraplegia, Spastic, Type 2
Progressive Familial Intrahepatic Cholestasis	Abcb4-Related Intrahepatic Cholestasis Cholestasis, Progressive Familial Intrahepatic Pfic Byler Disease Abcb11-Related Intrahepatic Cholestasis Atp8b1-Related Intrahepatic Cholestasis Bsep Deficiency Byler Disease Byler Syndrome Fic1 Deficiency Low Γ-Gt Familial Intrahepatic Cholestasis Mdr3 Deficiency Pfic Cholestasis, Intrahepatic, Familial, Progressive Pfic - [Progressive Familial Intrahepatic Cholestasis]
Intrahepatic Cholestasis Of Pregnancy	Recurrent Intrahepatic Cholestasis Of Pregnancy Gravidic Intrahepatic Cholestasis Pregnancy-Related Cholestasis Icp Pregnancy Related Cholestasis Cholestasis, Intrahepatic Of Pregnancy Familial Intrahepatic Cholestasis Of Pregnancy Familial Recurrent Intrahepatic Cholestasis Of Pregnancy Ricp Obstetric Cholestasis

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 (3)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS03488	CYP7B1 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS18706	Cyp7b1 Mouse Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS25193	Cyp7b1 Rat Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Canis familiaris	CYP7B1	VGNC	VGNC:50379
Mus musculus	CYP7B1	MGD	MGI:104978
Rattus norvegicus	CYP7B1	RGD	RGD:2483
Bos taurus	CYP7B1	VGNC	VGNC:110277
Macaca mulatta	CYP7B1	VGNC	VGNC:103615
Felis catus	CYP7B1	VGNC	VGNC:103329
Others	CYP7B1	NCBI