POR - cytochrome p450 oxidoreductase Gene

Also Known as CPR; CYPOR; P450R

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 5447

About POR

Cytogenetic location: 7q11.23 Genomic coordinates (GRCh38): 7:75,915,155-75,986,855 (from NCBI)

This gene has 24 transcripts (splice variants), 235 orthologues, 5 paralogues and is associated with 5 phenotypes. Ubiquitous expression in liver (RPKM 99.7), adrenal (RPKM 78.6) and 25 other tissues.

Summary

This gene encodes an endoplasmic reticulum membrane oxidoreductase that is essential for multiple metabolic processes, including reactions catalyzed by Cytochrome P450 proteins for metabolism of steroid Hormones, drugs and xenobiotics. The encoded protein has a flavin adenine dinucleotide (FAD)-binding domain and a flavodoxin-like domain which bind two cofactors, FAD and FMN, that allow it to donate electrons directly from NADPH to all microsomal P450 Enzymes. Mutations in this gene cause a complex set of disorders, including apparent combined P450C17 and P450C21 deficiency, amenorrhea and disordered steroidogenesis, congenital adrenal hyperplasia and Antley-Bixler syndrome, that resemble those caused by defects in steroid metabolizing Enzymes such as aromatase, 21-hydroxylase, and 17 alpha-hydroxylase. [provided by RefSeq, Aug 2020]

POR Products (7)

mRNA	Protein	Name
NM_001367562.3	NP_001354491.2	NADPH--cytochrome P450 reductase isoform 1
NM_001382655.3	NP_001369584.2	NADPH--cytochrome P450 reductase isoform 2
NM_001382657.2	NP_001369586.2	NADPH--cytochrome P450 reductase isoform 1
NM_001382658.3	NP_001369587.2	NADPH--cytochrome P450 reductase isoform 1
NM_001382659.3	NP_001369588.2	NADPH--cytochrome P450 reductase isoform 1
NM_001382662.3	NP_001369591.2	NADPH--cytochrome P450 reductase isoform 3
NM_001395413.1	NP_001382342.1	NADPH--cytochrome P450 reductase isoform 1

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	References	Source
enables NADPH-hemoprotein reductase activity	IDA IDA: Inferred from direct assay	2513880	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	21081644	GOA

Biological Process GO Annotation	Evidence	References	Source
involved in cellular organofluorine metabolic process	IDA IDA: Inferred from direct assay	19448135	GOA
involved in electron transport chain	IDA IDA: Inferred from direct assay	2513880	GOA
involved in positive regulation of monooxygenase activity	IDA IDA: Inferred from direct assay	19448135	GOA

Cellular Component GO Annotation	Evidence	References	Source
located in intracellular membrane-bounded organelle	IDA IDA: Inferred from direct assay	9618440	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

POR Protein Structure

Flavodoxin_1

FAD_binding_1

NAD_binding_1

0
100
200
300
400
500
600
633 a.a.

Protein Preferred Names	Protein Names
NADPH--cytochrome P450 reductase	NADPH--hemoprotein reductase

POR Protein-protein interaction Information

Type	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	References
Intra	POR	P16435	PGRMC1	Homo sapiens	O00264	Confocal	21081644
Intra	POR	P16435	PGRMC1	Homo sapiens	O00264	Anti Bait CoIP	21081644
Cross	POR	P16435	CYP2C2	Oryctolagus cuniculus	P00181	Anti Bait CoIP	21081644

Cross: Cross-species interaction Intra: Intraspecies interaction

POR Antibodies

Cat. No.	Product Name	Application	Reactivity
HY-P82874	Cytochrome P450 Reductase Antibody (YA2619)	WB, IHC-F, IHC-P, ICC/IF	Human, Mouse, Rat
HY-P82874A	Cytochrome P450 Reductase Antibody (YA2619)(PBS only)	WB, IHC-F, IHC-P, ICC/IF	Human, Mouse, Rat

Related Diseases

Diseases	Alias
Disordered Steroidogenesis Due To Cytochrome P450 Oxidoreductase Deficiency	Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency Disordered Steroidogenesis Due To Por Deficiency Disordered Steroidogenesis Due To Cytochrome P450 Oxidoreductase Por Deficiency Adrenal Hyperplasia, Congenital, Due To Cytochrome P450 Oxidoreductase Deficiency Congenital Adrenal Hyperplasia Due To Cytochrome Por Deficiency Pord DISPORD Adrenal Hyperplasia Congenital Due To Cytochrome P450 Oxidoreductase Deficiency Congenital Adrenal Hyperplasia Due To Apparent Combined P450c17 And P450c21 Deficiency Cytochrome P450 Oxidoreductase Deficiency Steroidogenesis, Disordered, Due To Cytochrome P450 Oxidoreductase Deficiency Antley-Bixler Syndrome With Disordered Steroidogenesis
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis	ABS1 Antley-Bixler Syndrome, With Genital Anomalies And Disordered Steroidogenesis Antley-Bixler Syndrome With Genital Anomaly And Disorder Of Steroidogenesis Ambiguous Genitalia-Disordered Steroidogenesis Antley-Bixler Syndrome Antley-Bixler Syndrome-Like Phenotype With Disordered Steroidogenesis Cytochrome P450 Oxidoreductase Deficiency Por Deficiency Antley-Bixler Syndrome With Disordered Steroidogenesis
Cytochrome P450 Oxidoreductase Deficiency	Por Deficiency Pord Antley-Bixler Syndrome With Disordered Steroidogenesis Antley-Bixler Syndrome Antley-Bixler Syndrome-Like Phenotype With Disordered Steroidogenesis Combined Partial Deficiency Of 17-Hydroxylase And 21-Hydroxylase Congenital Adrenal Hyperplasia Due To Apparent Combined P450c17 And P450c21 Deficiency Antley-Bixler Syndrome, Autosomal Dominant
Antley-Bixler Syndrome Without Genital Anomalies Or Disordered Steroidogenesis	ABS2 Trapezoidocephaly-Synostosis Syndrome Multisynostotic Osteodysgenesis With Long Bone Fractures Antley-Bixler Syndrome, Without Genital Anomalies Or Disordered Steroidogenesis Osteodysgenesis, Multisynostotic, With Fractures Osteodysgenesis Multisynostotic With Fractures Antley-Bixler Syndrome, Autosomal Dominant
Antley-Bixler Syndrome	Trapezoidocephaly Synostosis Syndrome Trapezoidocephaly-Synostosis Syndrome Antley Bixler Syndrome Multisynostotic Osteodysgenesis With Long Bone Fractures Osteodysgenesis, Multisynostotic With Fractures Antley-Bixler Syndrome, Autosomal Dominant Antley-Bixler Syndrome Phenotype
Lipoid Congenital Adrenal Hyperplasia	Congenital Adrenal Hyperplasia Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency Congenital Lipoid Adrenal Hyperplasia Lipoid Cah Lipoid Adrenal Hyperplasia Adrenal Hyperplasia 1 Cah Clah LCAH Adrenal Hyperplasia I Lipoid Hyperplasia, Congenital, Of Adrenal Cortex With Male Pseudohermaphroditism Congenital Adrenal Hyperplasia Lipoid Adrenal Hyperplasia, Congenital Congenital Adrenal Hyperplasia, Lipoid AH1 Congenital Lipoid Hyperplasia Of Adrenal Cortex With Male Pseudohermaphroditism Adrenal Hyperplasia Congenital Hyperplasia, Adrenal, Lipoid, Congenital Congenital Adrenogenital Disorders Associated With Enzyme Deficiency Congenital Adrenal Cortical Hyperplasia Congenital Adrenal Gland Hyperplasia Congenital Adrenogenital Syndrome Congenital Hyperadrenocorticism Congenital Adrenogenitalism Congenital Female Adrenal Pseudohermaphroditism
Premature Menopause	Primary Ovarian Insufficiency Premature Ovarian Failure Hypergonadotropic Hypogonadism Premature Ovarian Insufficiency Menopause - Premature Menopause Praecox Menopause Premature Menopause, Premature Female Hypergonadotropic Hypogonadism Hypergonadotrophic Ovarian Failure Primary Female Hypogonadism Pof - [Premature Ovarian Failure] Ovarian Failure Ovarian Secretion Suppression Ovary Hyposecretion Ovary Secretion Deficiency Premature Menopause Nos
Synostosis
Humeroradial Synostosis	Humero-Radial Fusion Humero-Radial Synostosis Ramer Ladda Syndrome
Steroid Inherited Metabolic Disorder	Steroid Metabolism, Inborn Errors
Craniosynostosis	Premature Closure Of Cranial Sutures Craniostenosis Craniosynostosis Syndrome Cso Craniosynostoses Congenital Ossification Of Cranial Sutures Congenital Ossification Of Sutures Of Skull Craniostosis Imperfect Fusion Of Skull Congenital Imperfect Closure Skull Imperfect Closure Skull Premature Closure Cranium Sutures Deficiency Of Craniofacial Axis
Hypertelorism, Microtia, Facial Clefting Syndrome	Hmc Syndrome Bixler Christian Gorlin Syndrome Bixler-Christian-Gorlin Syndrome Hypertelorism-Microtia-Facial Clefting Syndrome Bixler Syndrome Hypertelorism-Microtia-Clefting Syndrome Hypertelorism Microtia Facial Clefting Syndrome
Kohler'S Disease	Kohler Disease Aseptic Necrosis Of The Tarsal Bone Osteochondrosis Of The Tarsal Bone Juvenile Osteochondrosis Of Foot Kohler'S Disease Of The Tarsal Navicular Kohler'S Osteochondrosis Of The Tarsal Navicular Navicular Osteochondrosis Obsolete: Osteochondritis Of Tarsal/Metatarsal Bone Osteochondritis Of Tarsal/Metatarsal Bone Avascular Necrosis Of The Tarsal Bone Larsen-Johansson Syndrome
Cortisone Reductase Deficiency	11-Alpha Beta-Hydroxysteroid Dehydrogenase Type I Deficiency Of Cortrd Hsd 11b1 Deficiency
Adrenal Insufficiency, Congenital, With 46,Xy Sex Reversal, Partial Or Complete	P450scc Deficiency Congenital Adrenal Insufficiency Adrenal Insufficiency, Congenital, With 46xy Sex Reversal, Partial Or Complete 46,Xy Disorder Of Sex Development-Adrenal Insufficiency Due To Cyp11a1 Deficiency Xy Sex Reversal-Adrenal Failure Adrenal Insufficiency, Congenital, With 46,Xy Sex Reversal AICSR Adrenal Insufficiency Congenital With 46,Xy Sex Reversal Partial Or Complete Adrenal Insufficiency, Congenital Congenital Adrenal Hyperplasia Adrenogenital Syndrome
Gynecomastia
Cloacal Exstrophy	Oeis Complex Omphalocele-Cloacal Exstrophy-Imperforate Anus-Spinal Defect Syndrome Omphalocele, Exstrophy Of The Cloaca, Imperforate Anus, And Spinal Defects Compl Omphalocele, Exstrophy Of The Cloaca, Imperforate Anus, And Spinal Defects Complex Cloacal Exstrophy Sequence Omphalocele - Cloacal Exstrophy - Imperforate Anus - Spinal Defect Omphalocele, Exstrophy Of The Cloaca, Imperforate Anus, And Spinal Defects Omphalocele Exstrophy Imperforate Anus
Dermatopathia Pigmentosa Reticularis	DPR
Radioulnar Synostosis	Radio-Ulnar Synostosis Type 1
Corticosterone Methyloxidase Type I Deficiency	Cmo I Deficiency Aldosterone Deficiency I Aldosterone Deficiency Due To Defect In Steroid 18-Hydroxylase 18-Hydroxylase Deficiency Hypoaldosteronism, Congenital, Due To Cmo I Deficiency Corticosterone Methyloxidase Deficiency 1 Corticosterone Methyloxidase Type 1 Deficiency Hyperreninemic Hypoaldosteronism, Familial, 1 Fhha1a Steroid 18-Hydroxylase Deficiency Aldosterone Synthase Deficiency 18 Hydroxylase Deficiency 18 Alpha Hydroxylase Deficiency Aldosterone Deficiency 1 Aldosterone Deficiency Due To Defect In 18 Hydroxylase Cmo 1 Deficiency Corticosterone Methyloxidase 1 Deficiency CMO-1 DEFICIENCY Aldosterone Deficiency Due To Defect In 18-Hydroxylase Corticosterone Methyl Oxidase Type I Deficiency Corticosterone Methyl Oxidase Type Ii Deficiency
Arthrogryposis, Distal, Type 1a	Distal Arthrogryposis Type 1 Digitotalar Dysmorphism DA1A Da1 Amcd1 Arthrogryposis, Distal, Type 2b4 Distal Arthrogryposis Type 1a Arthrogryposis, Distal, Type 1 Arthrogryposis Multiplex Congenita Distal Type 1 Arthrogryposis Multiplex Congenita, Distal Type 1 Arthrogryposis Multiplex Congenita, Distal, Type I Distal Arthrogryposis Type 1b Arthrogryposis, Distal, 1a Amc Arthrogryposis Multiplex Congenita Arthrogryposis, Distal, 2b4 DA2B4 Arthrogryposis Multiplex Congenita, Distal, Type 1 Arthrogryposis
Androgen Insensitivity, Partial	Partial Androgen Insensitivity Syndrome Reifenstein Syndrome PAIS Androgen Insensitivity, Partial, With Or Without Breast Cancer Familial Incomplete Male Pseudohermaphroditism, Type 1 Androgen Insensitivity Syndrome, Partial Androgen Resistance Syndrome, Partial Reifenstein Syndrome, Partial Partial Androgen Resistance Syndrome Androgen Insensitivity Partial With Or Without Breast Cancer Androgen Insensitivity Syndrome Partial Insensitivity Syndrome, Androgen, Partial, With/Without Breast Cancer Syndrome
Osteochondrodysplasia	Skeletal Dysplasia Chondrodystrophy Congenital Anomaly Of Cartilage Osteochondrodysplasias Cartilage Development Disorder Osteochondrodysplasia Syndrome Dysplasia, Skeletal Mucopolysaccharidosis Iv
Myopathy, Centronuclear, 4	CNM4 Centronuclear Myopathy 4 Congenital Myopathy With Internal Nuclei And Atypical Cores Centronuclear Myopathy Type 4 Myopathy, Centronuclear, Type 4
Complete Androgen Insensitivity Syndrome	Cais Complete Androgen Resistance Syndrome Androgen Insensitivity Syndrome Complete Androgen Insensitivity, Complete Androgen-Insensitivity Syndrome Testicular Feminization
Conn'S Syndrome	Cushing Syndrome Hyperaldosteronism Primary Hyperaldosteronism Hypercortisolism Primary Aldosteronism Cushing'S Syndrome Adrenal Gland Hyperfunction Conn Syndrome Hyperadrenalism Ectopic Acth Syndrome Hyperadrenocorticism Cushing Disease Cushing'S Disease Adrenal Cortex Adenoma Corticotroph Pituitary Adenoma Pituitary Corticotroph Micro-Adenoma Pituitary-Dependent Cushing Syndrome Pituitary Acth Hypersecretion Acth Syndrome, Ectopic Acth-Secreting Pituitary Adenoma Adrenal Hyperfunction Resulting From Pituitary Acth Excess Ectopic Adrenocorticotropic Hormone Syndrome Nodular Primary Adrenocortical Dysplasia Pituitary Dependent Cushing Syndrome Pituitary Cushing Syndrome Pituitary-Dependant Cushing Syndrome Pituitary-Dependant Hypercortisolism Pituitary-Dependant Hypercortisolism Disorder Aldosteronism Primary Acth Syndrome Ectopic Adrenal Cushing'S Syndrome Adrenal Cortical Adenoma Cushing Syndrome Nos Cortisol Hypersecretion Corticoadrenal Hypersecretion Cushing Syndrome Secondary To Ectopic Acth-Secretion Ectopic Cushing Syndrome Hypercortisolism Due To Nonpituitary Tumour Ectopic Acth - [Adrenocorticotropic Hormone] Secretion Ectopic Acth - [Adrenocorticotropic Hormone] Secretion Causing Cushing Syndrome Idiopathic Aldosteronism Aldosteronism Primary Aldosteronism Due To Bilateral Adrenal Hyperplasia Primary Aldosteronism Due To Adrenal Hyperplasia
Glycerol Kinase Deficiency	Hyperglycerolemia GKD Gk Deficiency Gk1 Deficiency Deficiency Of Glycerol Kinase Isolated Glycerol Kinase Deficiency Glycerol Kinase Deficiency, Adult Form Glycerol Kinase Deficiency, Juvenile Form Deficiency, Glycerol Kinase
Persistent Mullerian Duct Syndrome	Persistent Müllerian Duct Syndrome Pmds Persistent Oviduct Syndrome Persistent Muellerian Duct Syndrome Female Genital Ducts In Otherwise Normal Male Hernia Uteri Inguinale Persistent Mullerian Duct Syndrome, Types 1 And 2 Persistent Mullerian Derivatives
Pseudohermaphroditism	Indeterminate Sex And Pseudohermaphroditism
46,Xy Sex Reversal	Swyer Syndrome Pure Gonadal Dysgenesis 46,Xy Gonadal Dysgenesis, Xy Female Type Gonadal Dysgenesis, 46,Xy 46,Xy Cgd 46,Xy Complete Gonadal Dysgenesis 46,Xy Pure Gonadal Dysgenesis 46 Xy Gonadal Dysgenesis 46, Xy Cgd 46, Xy Complete Gonadal Dysgenesis 46, Xy Pure Gonadal Dysgenesis Xy Pure Gonadal Dysgenesis Female With 46,Xy Karyotype Xy Females
Disorder Of Sexual Development	Disorder Of Sex Development Disorders Of Sex Development Sex Development Disorder Sex Differentiation Disease Dsd Sex Differentiation Disorders
Peroxisome Biogenesis Disorder 1b	Peroxisome Biogenesis Disorder Infantile Refsum Disease Infantile Phytanic Acid Storage Disease PBD1B Refsum Disease, Infantile Adrenoleukodystrophy, Autosomal Neonatal Ird Mild Pbd-Zsd Mild Peroxisome Biogenesis Disorder-Zellweger Spectrum Disorder Pbd-Zsd Peroxisome Biogenesis Disorder Spectrum Peroxisome Biogenesis Disorder-Zellweger Spectrum Disorder Autosomal Neonatal Adrenoleukodystrophy Refsum Disease Infantile Peroxisome Biogenesis Disorders Peroxisome Biogenesis Disorder, Type 1b

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

Approval
Pre-clinical Phase

Approval

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-P0083	Ornipressin	Agonist	99.87%	Unkown

Pre-clinical Phase

Bioactive Molecules (5)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS15630	VDAC2 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-P0083A	Ornipressin acetate	Agonist	99.63%	Unkown
HY-RS10880	POR Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS17068	Por Mouse Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS23512	Por Rat Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Bos taurus	POR	VGNC	VGNC:33169
Felis catus	POR	VGNC	VGNC:68961
Canis familiaris	POR	VGNC	VGNC:44820
Rattus norvegicus	POR	RGD	RGD:68335
Mus musculus	POR	MGD	MGI:97744
Macaca mulatta	POR	VGNC	VGNC:81743
Others	POR	NCBI