CYBRD1 - cytochrome b reductase 1 Gene

Also Known as DCYTB; FRRS3; CYB561A2

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 79901

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	Références	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	Références	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	Références	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

CYBRD1 Protein-protein interaction Information

Type	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	Références
Intra	CYBRD1	Q53TN4	SERP1	Homo sapiens	Q9Y6X1	Validated Y2H	32296183
Intra	CYBRD1	Q53TN4	VAPA	Homo sapiens	Q9P0L0	Validated Y2H	32296183
Intra	CYBRD1	Q53TN4	LPAR3	Homo sapiens	Q9UBY5	Validated Y2H	32296183
Intra	CYBRD1	Q53TN4	LAMP2	Homo sapiens	P13473-2	Y2H Pooling	32814053
Intra	CYBRD1	Q53TN4	LAMP2	Homo sapiens	P13473-2	Validated Y2H	32814053
Intra	CYBRD1	Q53TN4	LAMP2	Homo sapiens	P13473-2	Y2H Array	32814053
Intra	CYBRD1	Q53TN4	SH3GLB1	Homo sapiens	Q9Y371	Y2H Array	32814053
Intra	CYBRD1	Q53TN4	SH3GLB1	Homo sapiens	Q9Y371	Y2H Pooling	32814053
Intra	CYBRD1	Q53TN4	SH3GLB1	Homo sapiens	Q9Y371	Validated Y2H	32814053
Intra	CYBRD1	Q53TN4	PRPF40A	Homo sapiens	O75400-2	Validated Y2H	32814053
Intra	CYBRD1	Q53TN4	PRPF40A	Homo sapiens	O75400-2	Y2H Array	32814053
Intra	CYBRD1	Q53TN4	PRPF40A	Homo sapiens	O75400-2	Y2H Pooling	32814053
Intra	CYBRD1	Q53TN4	GIMAP5	Homo sapiens	Q96F15	Validated Y2H	32296183
Intra	CYBRD1	Q53TN4	TMEM65	Homo sapiens	Q6PI78	Validated Y2H	32296183
Intra	CYBRD1	Q53TN4	RABAC1	Homo sapiens	Q9UI14	Validated Y2H	32296183
Intra	CYBRD1	Q53TN4	CASP6	Homo sapiens	P55212	Validated Y2H	32814053
Intra	CYBRD1	Q53TN4	CASP6	Homo sapiens	P55212	Y2H Array	32814053
Intra	CYBRD1	Q53TN4	CASP6	Homo sapiens	P55212	Y2H Pooling	32814053
Intra	CYBRD1	Q53TN4	TMEM120A	Homo sapiens	Q9BXJ8	Validated Y2H	32296183
Intra	CYBRD1	Q53TN4	STX4	Homo sapiens	Q12846	Validated Y2H	25910212
Intra	CYBRD1	Q53TN4	STX4	Homo sapiens	Q12846	Y2H Array	25910212
Intra	CYBRD1	Q53TN4	STX4	Homo sapiens	Q12846	Y2H	21516116
Intra	CYBRD1	Q53TN4	STX4	Homo sapiens	Q12846	Y2H Bait-Prey Pool	25910212
Intra	CYBRD1	Q53TN4	SERP2	Homo sapiens	Q8N6R1	Validated Y2H	32296183
Intra	CYBRD1	Q53TN4	SEC22A	Homo sapiens	Q96IW7	Validated Y2H	32296183

Cross: Cross-species interaction Intra: Intraspecies interaction

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

Pre-clinical Phase

Bioactive Molecules (1)

Cat. No.	Nom du produit	Effect	Pureté	Rare Diseases
HY-RS03427	CYBRD1 Human Pre-designed siRNA Set A	Pre-designed Set	/	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
Others	CYBRD1	NCBI