CYBRD1 - cytochrome b reductase 1 Gene

Homo sapiens

Also known as DCYTB; FRRS3; CYB561A2

Gene ID: 79901 | Gene type: protein coding

About CYBRD1

Cytogenetic location: 2q31.1 Genomic coordinates (GRCh38): 2:171,522,233-171,558,129 (from NCBI)

This gene has 7 transcripts (splice variants), 195 orthologues and 2 paralogues. Broad expression in thyroid (RPKM 155.0), small intestine (RPKM 130.0) and 22 other tissues.

Summary

This gene is a member of the cytochrome b(561) family that encodes an iron-regulated protein. It highly expressed in the duodenal brush border membrane. It has ferric reductase activity and is believed to play a physiological role in dietary iron absorption. [provided by RefSeq, Jul 2008]

CYBRD1 Products(3)

mRNA	Protein	Name
NM_001127383.2	NP_001120855.1	plasma membrane ascorbate-dependent reductase CYBRD1 isoform 2
NM_001256909.2	NP_001243838.1	plasma membrane ascorbate-dependent reductase CYBRD1 isoform 3
NM_024843.4	NP_079119.3	plasma membrane ascorbate-dependent reductase CYBRD1 isoform 1

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	Reference	Source
enables identical protein binding	IDA IDA: Inferred from direct assay	30272000	GOA
enables oxidoreductase activity, acting on metal ions	IDA IDA: Inferred from direct assay	14499595	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	21516116	GOA
enables transmembrane ascorbate ferrireductase activity	IDA IDA: Inferred from direct assay	17068337	GOA
enables transmembrane monodehydroascorbate reductase activity	IDA IDA: Inferred from direct assay	17068337	GOA

Biological Process GO Annotation	Evidence	Reference	Source
involved in ascorbate homeostasis	IDA IDA: Inferred from direct assay	17068337	GOA
involved in intracellular iron ion homeostasis	IDA IDA: Inferred from direct assay	14499595	GOA
involved in multicellular organismal-level iron ion homeostasis	IDA IDA: Inferred from direct assay	30272000	GOA

Cellular Component GO Annotation	Evidence	Reference	Source
located in apical plasma membrane	IDA IDA: Inferred from direct assay	12949720	GOA
located in brush border membrane	IDA IDA: Inferred from direct assay	12949720	GOA
located in membrane	IDA IDA: Inferred from direct assay	30272000	GOA
located in plasma membrane	IDA IDA: Inferred from direct assay	17068337	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

CYBRD1 Protein Structure

Cytochrom_B561

0
100
200
286 a.a.

Protein Preferred Names

Protein Names

plasma membrane ascorbate-dependent reductase CYBRD1

cytochrome b561 family, member A2

Related Diseases

Diseases

Alias

Hemochromatosis, Type 1

Hemochromatosis	Hemochromatosis Type 1
Hereditary Hemochromatosis	Hh
HFE1	Hfe Hemochromatosis, Modifier Of
Symptomatic Form Of Classic Hemochromatosis	Symptomatic Form Of Hemochromatosis Type 1
Symptomatic Form Of Hfe-Related Hereditary Hemochromatosis	Haemochromatosis
Iron Storage Disorder	Bronze Diabetes
Hereditary Haemochromatosis	Hlah
Hfe	Hemochromatosis, Hereditary
Diabetes Bronze	Classic Hemochromatosis
Hfe-Associated Hereditary Hemochromatosis	Hemochromatosis Classic
Bronzed Cirrhosis	Familial Hemochromatosis
Genetic Hemochromatosis	Hc
Pigmentary Cirrhosis	Primary Hemochromatosis
Troisier-Hanot-Chauffard Syndrome	Von Recklenhausen-Applebaum Disease
Hemochromatosis 1	Primary Hereditary Hemochromatosis
Bronze Cirrhosis

Iron Metabolism Disease

Iron Deficiency	Iron Disorder
Iron Metabolism Disorders	Disorder Of Iron Metabolism
Iron	Fe Deficiency
Iron Storage Disease	Iron Storage Disorder

Porphyria Cutanea Tarda

Hepatoerythropoietic Porphyria	HEP
Uroporphyrinogen Decarboxylase Deficiency	Pct
Pct, Type Ii	Porphyria, Hepatocutaneous Type
Urod Deficiency	Porphyria, Hepatoerythropoietic
Porphyria Cutanea Tarda, Susceptibility To	Familial Porphyria Cutanea Tarda
Porphyria Cutanea Tarda, Type Ii	Pct, 'Familial' Type
Porphyria, Hepatic	FPCT
Pct Type Ii	Porphyria Cutanea Tarda Type Ii
Porphyria Hepatocutaneous Type	Heterozygous Uroporphyrinogen Decarboxylase Deficiency
Urod - [Uroporphyrinogen Decarboxylase] Deficiency	Pct - [Porphyria Cutanea Tarda]

Porphyria

Hematoporphyria	Porphyrias
Disorder Of Porphyrin And Hem Metabolism	Disorder Of Porphyrin Metabolism
Porphyrinopathy	Porphyrin Disorder
Disorder Of Porphyrin And Heme Metabolism	Disorders Of Porphyrin Metabolism

Hemochromatosis, Type 4

Hemochromatosis Type 4	Hemochromatosis Due To Defect In Ferroportin
HFE4	Hemochromatosis, Autosomal Dominant
Autosomal Dominant Hereditary Hemochromatosis	Ferroportin Disease
Hemochromatosis 4	Hemochromatosis Autosomal Dominant

Iron Overload In Africa

African Iron Overload	Bantu Siderosis
African Hemochromatosis	Hereditary Iron Overload And African Americans
African Nutritional Hemochromatosis	African Siderosis

Deficiency Anemia

Anemia	Deficiency Anemias
Anaemia

Metal Metabolism Disorder

Metal Metabolism, Inborn Errors

Inborn Metal Metabolism Disorder

Anemia, Sideroblastic, 1

Xlsa	X-Linked Sideroblastic Anemia
Hypochromic Anemia	Anh1
Hereditary Iron-Loading Anemia	Anemia, Sideroblastic, X-Linked
Anemia, Hereditary Sideroblastic	Erythroid 5-Aminolevulinate Synthase Deficiency
Hereditary Sideroblastic Anemia	SIDBA1
Anemia, Hypochromic	Sideroblastic Anemia 1
Anemia Hypochromic	X Chromosome-Linked Sideroblastic Anemia
Sideroblastic Anaemia 1	X-Linked Sideroblastic Anaemia
Anemia Hereditary Sideroblastic	Anemia Sex-Linked Hypochromic Sideroblastic
Congenital Sideroblastic Anemia	Sideroblastic Anemia X-Linked
Anemia, Sex-Linked Hypochromic Sideroblastic	Congenital Sideroblastic Anaemia
X-Linked Pyridoxine-Responsive Sideroblastic Anemia	Anemia Congenital Sideroblastic
Anemia, Sideroblastic, Type 1	Sex-Linked Hypochromic Sideroblastic Anaemia
Autosomal Recessive Sideroblastic Anaemia	Familial Sex Linked Hypochromic Anaemia

Hemochromatosis Type 2

Juvenile Hemochromatosis	Juvenile Hereditary Hemochromatosis
Hfe2	Jhh
Hemochromatosis Juvenile	Iron Overload Disease Juvenile
Hemochromatosis, Juvenile	Hemochromatosis, Type 2
Hemochromatosis	Hemochromatosis, Type 1

Iron Deficiency Anemia

Iron-Deficiency Anemia	Fe Deficiency Anaemia
Ida - [Iron Deficiency Anemia]	Fe - [Iron] Deficiency Anemia Nos

Microcytic Anemia

Iron-Refractory Iron Deficiency Anemia

Erythrocytosis, Familial, 2

Chuvash Polycythemia	ECYT2
Familial Erythrocytosis 2	Autosomal Recessive Benign Erythrocytosis
Polycythemia, Vhl-Dependent	Chuvash Erythromatosis
Chuvash Type Polycythemia	Chuvash Erythrocytosis
Von Hippel-Lindau-Dependent Polycythemia	Polycythemia Chuvash Type
Vhl-Dependent Polycythemia	Erythrocytosis, Familial, Type 2

Aceruloplasminemia

Cerebellar Ataxia	Hypoceruloplasminemia
Hemosiderosis, Systemic, Due To Aceruloplasminemia	Familial Apoceruloplasmin Deficiency
Hereditary Ceruloplasmin Deficiency	Deficiency Of Ferroxidase
Hypoceruloplasminemia, Hereditary	Ceruloplasmin Deficiency
Systemic Hemosiderosis Due To Aceruloplasminemia	ACERULOP

Beta-Thalassemia Major

Cooley'S Anemia	Cooley Anemia
Mediterranean Anemia

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

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS03427	CYBRD1 Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Felis catus	CYBRD1	VGNC	VGNC:80178
Mus musculus	CYBRD1	MGD	MGI:2654575
Macaca mulatta	CYBRD1	VGNC	VGNC:104520
Canis familiaris	CYBRD1	VGNC	VGNC:50286
Rattus norvegicus	CYBRD1	RGD	RGD:1305740
Bos taurus	CYBRD1	VGNC	VGNC:49050

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