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CYB5R3
HPA
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  • CYB5R3
PROTEIN SUMMARY GENE INFORMATION RNA DATA ANTIBODY DATA
GENERAL INFORMATIONi

General description of the gene and the encoded protein(s) using information from HGNC and Ensembl, as well as predictions made by the Human Protein Atlas project.

Gene namei

Official gene symbol, which is typically a short form of the gene name, according to HGNC.

CYB5R3
Synonyms DIA1
Gene descriptioni

Full gene name according to HGNC.

Cytochrome b5 reductase 3
Protein classi

Assigned HPA protein class(es) for the encoded protein(s).

Cancer-related genes
Disease related genes
Enzymes
Human disease related genes
Metabolic proteins
Potential drug targets
Transporters
Predicted locationi

All transcripts of all genes have been analyzed regarding the location(s) of corresponding protein based on prediction methods for signal peptides and transmembrane regions.

  • Genes with at least one transcript predicted to encode a secreted protein, according to prediction methods or to UniProt location data, have been further annotated and classified with the aim to determine if the corresponding protein(s) are secreted or actually retained in intracellular locations or membrane-attached.

  • Remaining genes, with no transcript predicted to encode a secreted protein, will be assigned the prediction-based location(s).

The annotated location overrules the predicted location, so that a gene encoding a predicted secreted protein that has been annotated as intracellular will have intracellular as the final location.

Membrane, Intracellular
Protein evidence Evidence at protein level (all genes)
GENE INFORMATIONi

Gene information from Ensembl and Entrez, as well as links to available gene identifiers are displayed here. Information was retrieved from Ensembl if not indicated otherwise.

Chromosome 22
Cytoband q13.2
Chromosome location (bp) 42615730 - 42720870
Number of transcriptsi

Number of protein-coding transcripts from the gene as defined by Ensembl.

14
Ensembl ENSG00000100243 (version 109)
Entrez gene 1727
HGNC HGNC:2873
UniProt P00387 (UniProt - Evidence at protein level)
neXtProt NX_P00387
GeneCards CYB5R3
Antibodypedia CYB5R3 antibodies


PROTEIN FUNCTION
Protein function (UniProt)i

Useful information about the protein provided by UniProt.

Catalyzes the reduction of two molecules of cytochrome b5 using NADH as the electron donor.... show less
Molecular function (UniProt)i

Keywords assigned by UniProt to proteins due to their particular molecular function.

Oxidoreductase
Biological process (UniProt)i

Keywords assigned by UniProt to proteins because they are involved in a particular biological process.

Cholesterol biosynthesis, Cholesterol metabolism, Lipid biosynthesis, Lipid metabolism, Steroid biosynthesis, Steroid metabolism, Sterol biosynthesis, Sterol metabolism
Ligand (UniProt)i

Keywords assigned by UniProt to proteins because they bind, are associated with, or whose activity is dependent of some molecule.

FAD, Flavoprotein, NAD
Gene summary (Entrez)i

Useful information about the gene from Entrez

This gene encodes cytochrome b5 reductase, which includes a membrane-bound form in somatic cells (anchored in the endoplasmic reticulum, mitochondrial and other membranes) and a soluble form in erythrocytes. The membrane-bound form exists mainly on the cytoplasmic side of the endoplasmic reticulum and functions in desaturation and elongation of fatty acids, in cholesterol biosynthesis, and in drug metabolism. The erythrocyte form is located in a soluble fraction of circulating erythrocytes and is involved in methemoglobin reduction. The membrane-bound form has both membrane-binding and catalytic domains, while the soluble form has only the catalytic domain. Alternate splicing results in multiple transcript variants. Mutations in this gene cause methemoglobinemias. [provided by RefSeq, Jan 2010]... show less
PROTEIN INFORMATIONi

The protein information section displays alternative protein-coding transcripts (splice variants) encoded by this gene according to the Ensembl database.

The Splice variant identifier links to the Ensembl website protein summary for the selected splice variant. The data in the Swissprot and TrEMBL columns links to corresponding pages in the UniProt database.

The protein classes assigned to this protein are shown if expanding the data in the protein class column. Parent protein classes are in bold font and subclasses are listed under the parent class.

The length of the protein (amino acid residues according to Ensembl), molecular mass (kDalton), predicted signal peptide and number of predicted transmembrane region(s) according to in-house majority decision methods based on sets of predictors are also reported.
Splice variant SwissProt TrEMBL Protein class Gene ontology Length & mass Signal peptide
(predicted)
Transmembrane regions
(predicted)
CYB5R3-201
ENSP00000338461
ENST00000352397
P00387
[Direct mapping] NADH-cytochrome b5 reductase 3 NADH-cytochrome b5 reductase 3 membrane-bound form NADH-cytochrome b5 reductase 3 soluble form
Show all
Enzymes
   ENZYME proteins
   Oxidoreductases
Metabolic proteins
Transporters
   Transport Electron Carriers
Predicted membrane proteins
   Prediction method-based
   Membrane proteins predicted by MDM
   MEMSAT3 predicted membrane proteins
   MEMSAT-SVM predicted membrane proteins
   Phobius predicted membrane proteins
   SPOCTOPUS predicted membrane proteins
   THUMBUP predicted membrane proteins
   # TM segments-based
   1TM proteins predicted by MDM
Cancer-related genes
   Candidate cancer biomarkers
Disease related genes
Potential drug targets
Human disease related genes
   Cardiovascular diseases
   Hematologic diseases
Mapped to neXtProt
   neXtProt - Evidence at protein level
Protein evidence (Kim et al 2014)
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0004128 [cytochrome-b5 reductase activity, acting on NAD(P)H]
GO:0005515 [protein binding]
GO:0005576 [extracellular region]
GO:0005737 [cytoplasm]
GO:0005739 [mitochondrion]
GO:0005741 [mitochondrial outer membrane]
GO:0005783 [endoplasmic reticulum]
GO:0005789 [endoplasmic reticulum membrane]
GO:0005811 [lipid droplet]
GO:0005833 [hemoglobin complex]
GO:0006629 [lipid metabolic process]
GO:0006694 [steroid biosynthetic process]
GO:0006695 [cholesterol biosynthetic process]
GO:0006809 [nitric oxide biosynthetic process]
GO:0008015 [blood circulation]
GO:0008202 [steroid metabolic process]
GO:0008203 [cholesterol metabolic process]
GO:0016020 [membrane]
GO:0016126 [sterol biosynthetic process]
GO:0016491 [oxidoreductase activity]
GO:0031966 [mitochondrial membrane]
GO:0035578 [azurophil granule lumen]
GO:0050421 [nitrite reductase (NO-forming) activity]
GO:0071949 [FAD binding]
GO:1903958 [nitric-oxide synthase complex]
Show all
301 aa
34.2 kDa
No 1
CYB5R3-202
ENSP00000354468
ENST00000361740
A0A8J8YWN6
[Direct mapping] NADH-cytochrome b5 reductase 3
Show all
Metabolic proteins
Predicted membrane proteins
   Prediction method-based
   Membrane proteins predicted by MDM
   MEMSAT3 predicted membrane proteins
   MEMSAT-SVM predicted membrane proteins
   Phobius predicted membrane proteins
   SCAMPI predicted membrane proteins
   SPOCTOPUS predicted membrane proteins
   THUMBUP predicted membrane proteins
   # TM segments-based
   1TM proteins predicted by MDM
Human disease related genes
   Cardiovascular diseases
   Hematologic diseases
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0005789 [endoplasmic reticulum membrane]
GO:0016491 [oxidoreductase activity]
Show all
345 aa
38.8 kDa
No 1
CYB5R3-203
ENSP00000385679
ENST00000402438
P00387
[Direct mapping] NADH-cytochrome b5 reductase 3 NADH-cytochrome b5 reductase 3 membrane-bound form NADH-cytochrome b5 reductase 3 soluble form
Show all
Enzymes
   ENZYME proteins
   Oxidoreductases
Metabolic proteins
Transporters
   Transport Electron Carriers
Predicted intracellular proteins
   Intracellular proteins predicted by MDM and MDSEC
Cancer-related genes
   Candidate cancer biomarkers
Disease related genes
Potential drug targets
Human disease related genes
   Cardiovascular diseases
   Hematologic diseases
Mapped to neXtProt
   neXtProt - Evidence at protein level
Protein evidence (Kim et al 2014)
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0004128 [cytochrome-b5 reductase activity, acting on NAD(P)H]
GO:0005515 [protein binding]
GO:0005576 [extracellular region]
GO:0005737 [cytoplasm]
GO:0005739 [mitochondrion]
GO:0005741 [mitochondrial outer membrane]
GO:0005783 [endoplasmic reticulum]
GO:0005789 [endoplasmic reticulum membrane]
GO:0005811 [lipid droplet]
GO:0005829 [cytosol]
GO:0005833 [hemoglobin complex]
GO:0006629 [lipid metabolic process]
GO:0006694 [steroid biosynthetic process]
GO:0006695 [cholesterol biosynthetic process]
GO:0006809 [nitric oxide biosynthetic process]
GO:0008015 [blood circulation]
GO:0008202 [steroid metabolic process]
GO:0008203 [cholesterol metabolic process]
GO:0016020 [membrane]
GO:0016126 [sterol biosynthetic process]
GO:0016491 [oxidoreductase activity]
GO:0031966 [mitochondrial membrane]
GO:0035578 [azurophil granule lumen]
GO:0050421 [nitrite reductase (NO-forming) activity]
GO:0071949 [FAD binding]
GO:1903958 [nitric-oxide synthase complex]
Show all
278 aa
31.6 kDa
No 0
CYB5R3-204
ENSP00000384457
ENST00000407332
A0A8J8Z3C6
[Direct mapping] NADH-cytochrome b5 reductase 3
Show all
Metabolic proteins
Predicted membrane proteins
   Prediction method-based
   Membrane proteins predicted by MDM
   MEMSAT3 predicted membrane proteins
   MEMSAT-SVM predicted membrane proteins
   Phobius predicted membrane proteins
   SPOCTOPUS predicted membrane proteins
   THUMBUP predicted membrane proteins
   # TM segments-based
   1TM proteins predicted by MDM
Human disease related genes
   Cardiovascular diseases
   Hematologic diseases
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0004128 [cytochrome-b5 reductase activity, acting on NAD(P)H]
GO:0005789 [endoplasmic reticulum membrane]
GO:0016491 [oxidoreductase activity]
Show all
307 aa
34.9 kDa
No 1
CYB5R3-205
ENSP00000384834
ENST00000407623
P00387
[Direct mapping] NADH-cytochrome b5 reductase 3 NADH-cytochrome b5 reductase 3 membrane-bound form NADH-cytochrome b5 reductase 3 soluble form
Show all
Enzymes
   ENZYME proteins
   Oxidoreductases
Metabolic proteins
Transporters
   Transport Electron Carriers
Predicted intracellular proteins
   Intracellular proteins predicted by MDM and MDSEC
Cancer-related genes
   Candidate cancer biomarkers
Disease related genes
Potential drug targets
Human disease related genes
   Cardiovascular diseases
   Hematologic diseases
Mapped to neXtProt
   neXtProt - Evidence at protein level
Protein evidence (Kim et al 2014)
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0004128 [cytochrome-b5 reductase activity, acting on NAD(P)H]
GO:0005515 [protein binding]
GO:0005576 [extracellular region]
GO:0005737 [cytoplasm]
GO:0005739 [mitochondrion]
GO:0005741 [mitochondrial outer membrane]
GO:0005783 [endoplasmic reticulum]
GO:0005789 [endoplasmic reticulum membrane]
GO:0005811 [lipid droplet]
GO:0005829 [cytosol]
GO:0005833 [hemoglobin complex]
GO:0006629 [lipid metabolic process]
GO:0006694 [steroid biosynthetic process]
GO:0006695 [cholesterol biosynthetic process]
GO:0006809 [nitric oxide biosynthetic process]
GO:0008015 [blood circulation]
GO:0008202 [steroid metabolic process]
GO:0008203 [cholesterol metabolic process]
GO:0016020 [membrane]
GO:0016126 [sterol biosynthetic process]
GO:0016491 [oxidoreductase activity]
GO:0031966 [mitochondrial membrane]
GO:0035578 [azurophil granule lumen]
GO:0050421 [nitrite reductase (NO-forming) activity]
GO:0071949 [FAD binding]
GO:1903958 [nitric-oxide synthase complex]
Show all
278 aa
31.6 kDa
No 0
CYB5R3-206
ENSP00000403439
ENST00000438270
B1AHF3
[Direct mapping] NADH-cytochrome b5 reductase 3
Show all
Metabolic proteins
Predicted intracellular proteins
   Intracellular proteins predicted by MDM and MDSEC
Human disease related genes
   Cardiovascular diseases
   Hematologic diseases
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0016491 [oxidoreductase activity]
Show all
159 aa
17.8 kDa
No 0
CYB5R3-211
ENSP00000508623
ENST00000686129
A0A8I5KVD2
[Direct mapping] NADH-cytochrome b5 reductase 3
Show all
Metabolic proteins
Predicted intracellular proteins
   Intracellular proteins predicted by MDM and MDSEC
Human disease related genes
   Cardiovascular diseases
   Hematologic diseases
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0016491 [oxidoreductase activity]
Show all
131 aa
14.9 kDa
No 0
CYB5R3-214
ENSP00000508492
ENST00000687198
P00387
[Direct mapping] NADH-cytochrome b5 reductase 3 NADH-cytochrome b5 reductase 3 membrane-bound form NADH-cytochrome b5 reductase 3 soluble form
Show all
Enzymes
   ENZYME proteins
   Oxidoreductases
Metabolic proteins
Transporters
   Transport Electron Carriers
Predicted intracellular proteins
   Intracellular proteins predicted by MDM and MDSEC
Cancer-related genes
   Candidate cancer biomarkers
Disease related genes
Potential drug targets
Human disease related genes
   Cardiovascular diseases
   Hematologic diseases
Mapped to neXtProt
   neXtProt - Evidence at protein level
Protein evidence (Kim et al 2014)
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0004128 [cytochrome-b5 reductase activity, acting on NAD(P)H]
GO:0005515 [protein binding]
GO:0005576 [extracellular region]
GO:0005737 [cytoplasm]
GO:0005739 [mitochondrion]
GO:0005741 [mitochondrial outer membrane]
GO:0005783 [endoplasmic reticulum]
GO:0005789 [endoplasmic reticulum membrane]
GO:0005811 [lipid droplet]
GO:0005829 [cytosol]
GO:0005833 [hemoglobin complex]
GO:0006629 [lipid metabolic process]
GO:0006694 [steroid biosynthetic process]
GO:0006695 [cholesterol biosynthetic process]
GO:0006809 [nitric oxide biosynthetic process]
GO:0008015 [blood circulation]
GO:0008202 [steroid metabolic process]
GO:0008203 [cholesterol metabolic process]
GO:0016020 [membrane]
GO:0016126 [sterol biosynthetic process]
GO:0016491 [oxidoreductase activity]
GO:0031966 [mitochondrial membrane]
GO:0035578 [azurophil granule lumen]
GO:0050421 [nitrite reductase (NO-forming) activity]
GO:0071949 [FAD binding]
GO:1903958 [nitric-oxide synthase complex]
Show all
278 aa
31.6 kDa
No 0
CYB5R3-216
ENSP00000509015
ENST00000688117
P00387
[Direct mapping] NADH-cytochrome b5 reductase 3 NADH-cytochrome b5 reductase 3 membrane-bound form NADH-cytochrome b5 reductase 3 soluble form
Show all
Enzymes
   ENZYME proteins
   Oxidoreductases
Metabolic proteins
Transporters
   Transport Electron Carriers
Predicted membrane proteins
   Prediction method-based
   Membrane proteins predicted by MDM
   MEMSAT3 predicted membrane proteins
   MEMSAT-SVM predicted membrane proteins
   Phobius predicted membrane proteins
   SPOCTOPUS predicted membrane proteins
   THUMBUP predicted membrane proteins
   # TM segments-based
   1TM proteins predicted by MDM
Cancer-related genes
   Candidate cancer biomarkers
Disease related genes
Potential drug targets
Human disease related genes
   Cardiovascular diseases
   Hematologic diseases
Mapped to neXtProt
   neXtProt - Evidence at protein level
Protein evidence (Kim et al 2014)
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0004128 [cytochrome-b5 reductase activity, acting on NAD(P)H]
GO:0005515 [protein binding]
GO:0005576 [extracellular region]
GO:0005737 [cytoplasm]
GO:0005739 [mitochondrion]
GO:0005741 [mitochondrial outer membrane]
GO:0005783 [endoplasmic reticulum]
GO:0005789 [endoplasmic reticulum membrane]
GO:0005811 [lipid droplet]
GO:0005833 [hemoglobin complex]
GO:0006629 [lipid metabolic process]
GO:0006694 [steroid biosynthetic process]
GO:0006695 [cholesterol biosynthetic process]
GO:0006809 [nitric oxide biosynthetic process]
GO:0008015 [blood circulation]
GO:0008202 [steroid metabolic process]
GO:0008203 [cholesterol metabolic process]
GO:0016020 [membrane]
GO:0016126 [sterol biosynthetic process]
GO:0016491 [oxidoreductase activity]
GO:0031966 [mitochondrial membrane]
GO:0035578 [azurophil granule lumen]
GO:0050421 [nitrite reductase (NO-forming) activity]
GO:0071949 [FAD binding]
GO:1903958 [nitric-oxide synthase complex]
Show all
334 aa
38.2 kDa
No 1
CYB5R3-217
ENSP00000510355
ENST00000688244
A0A8I5KYU1
[Direct mapping] Cytochrome-b5 reductase
Show all
Metabolic proteins
Predicted membrane proteins
   Prediction method-based
   Membrane proteins predicted by MDM
   MEMSAT3 predicted membrane proteins
   MEMSAT-SVM predicted membrane proteins
   Phobius predicted membrane proteins
   SPOCTOPUS predicted membrane proteins
   THUMBUP predicted membrane proteins
   # TM segments-based
   1TM proteins predicted by MDM
Human disease related genes
   Cardiovascular diseases
   Hematologic diseases
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0005789 [endoplasmic reticulum membrane]
GO:0016491 [oxidoreductase activity]
Show all
201 aa
23.2 kDa
No 1
CYB5R3-219
ENSP00000509895
ENST00000689195
A0A8I5QKX1
[Direct mapping] Cytochrome-b5 reductase
Show all
Metabolic proteins
Predicted membrane proteins
   Prediction method-based
   Membrane proteins predicted by MDM
   MEMSAT3 predicted membrane proteins
   MEMSAT-SVM predicted membrane proteins
   Phobius predicted membrane proteins
   SPOCTOPUS predicted membrane proteins
   THUMBUP predicted membrane proteins
   # TM segments-based
   1TM proteins predicted by MDM
Human disease related genes
   Cardiovascular diseases
   Hematologic diseases
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0005789 [endoplasmic reticulum membrane]
GO:0016491 [oxidoreductase activity]
Show all
273 aa
31.3 kDa
No 1
CYB5R3-226
ENSP00000509317
ENST00000692152
P00387
[Direct mapping] NADH-cytochrome b5 reductase 3 NADH-cytochrome b5 reductase 3 membrane-bound form NADH-cytochrome b5 reductase 3 soluble form
Show all
Enzymes
   ENZYME proteins
   Oxidoreductases
Metabolic proteins
Transporters
   Transport Electron Carriers
Predicted intracellular proteins
   Intracellular proteins predicted by MDM and MDSEC
Cancer-related genes
   Candidate cancer biomarkers
Disease related genes
Potential drug targets
Human disease related genes
   Cardiovascular diseases
   Hematologic diseases
Mapped to neXtProt
   neXtProt - Evidence at protein level
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0004128 [cytochrome-b5 reductase activity, acting on NAD(P)H]
GO:0005515 [protein binding]
GO:0005576 [extracellular region]
GO:0005737 [cytoplasm]
GO:0005739 [mitochondrion]
GO:0005741 [mitochondrial outer membrane]
GO:0005783 [endoplasmic reticulum]
GO:0005789 [endoplasmic reticulum membrane]
GO:0005811 [lipid droplet]
GO:0005829 [cytosol]
GO:0005833 [hemoglobin complex]
GO:0006629 [lipid metabolic process]
GO:0006694 [steroid biosynthetic process]
GO:0006695 [cholesterol biosynthetic process]
GO:0006809 [nitric oxide biosynthetic process]
GO:0008015 [blood circulation]
GO:0008202 [steroid metabolic process]
GO:0008203 [cholesterol metabolic process]
GO:0016020 [membrane]
GO:0016126 [sterol biosynthetic process]
GO:0016491 [oxidoreductase activity]
GO:0031966 [mitochondrial membrane]
GO:0035578 [azurophil granule lumen]
GO:0050421 [nitrite reductase (NO-forming) activity]
GO:0071949 [FAD binding]
GO:1903958 [nitric-oxide synthase complex]
Show all
278 aa
31.6 kDa
No 0
CYB5R3-229
ENSP00000510411
ENST00000693363
A0A8I5KW26
[Direct mapping] Cytochrome-b5 reductase
Show all
Metabolic proteins
Predicted membrane proteins
   Prediction method-based
   Membrane proteins predicted by MDM
   MEMSAT3 predicted membrane proteins
   MEMSAT-SVM predicted membrane proteins
   Phobius predicted membrane proteins
   SCAMPI predicted membrane proteins
   SPOCTOPUS predicted membrane proteins
   THUMBUP predicted membrane proteins
   # TM segments-based
   1TM proteins predicted by MDM
Human disease related genes
   Cardiovascular diseases
   Hematologic diseases
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0005789 [endoplasmic reticulum membrane]
GO:0016491 [oxidoreductase activity]
Show all
315 aa
35.7 kDa
No 1
CYB5R3-230
ENSP00000508815
ENST00000693367
A0A8I5KR71
[Direct mapping] NADH-cytochrome b5 reductase
Show all
Metabolic proteins
Predicted membrane proteins
   Prediction method-based
   Membrane proteins predicted by MDM
   MEMSAT3 predicted membrane proteins
   MEMSAT-SVM predicted membrane proteins
   Phobius predicted membrane proteins
   SPOCTOPUS predicted membrane proteins
   THUMBUP predicted membrane proteins
   # TM segments-based
   1TM proteins predicted by MDM
Human disease related genes
   Cardiovascular diseases
   Hematologic diseases
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0004128 [cytochrome-b5 reductase activity, acting on NAD(P)H]
GO:0005789 [endoplasmic reticulum membrane]
GO:0016491 [oxidoreductase activity]
Show all
298 aa
33.9 kDa
No 1

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