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Entry version 239 (13 Feb 2019)
Sequence version 3 (23 Jan 2007)
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Protein

NADH-cytochrome b5 reductase 3

Gene

CYB5R3

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score:

Annotation score:5 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
-Experimental evidence at protein leveli <p>This indicates the type of evidence that supports the existence of the protein. Note that the ‘protein existence’ evidence does not give information on the accuracy or correctness of the sequence(s) displayed.<p><a href='/help/protein_existence' target='_top'>More...</a></p>

<p>This section provides any useful information about the protein, mostly biological knowledge.<p><a href='/help/function_section' target='_top'>More...</a></p>Functioni

Desaturation and elongation of fatty acids, cholesterol biosynthesis, drug metabolism, and, in erythrocyte, methemoglobin reduction.

<p>This subsection of the <a href="http://www.uniprot.org/help/function_section">Function</a> section describes the catalytic activity of an enzyme, i.e. a chemical reaction that the enzyme catalyzes.<p><a href='/help/catalytic_activity' target='_top'>More...</a></p>Catalytic activityi

<p>This subsection of the ‘Function’ section provides information relevant to cofactors. A cofactor is any non-protein substance required for a protein to be catalytically active. Some cofactors are inorganic, such as the metal atoms zinc, iron, and copper in various oxidation states. Others, such as most vitamins, are organic.<p><a href='/help/cofactor' target='_top'>More...</a></p>Cofactori

FAD

Regions

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Function’ section describes a region in the protein which binds nucleotide phosphates. It always involves more than one amino acid and includes all residues involved in nucleotide-binding.<p><a href='/help/np_bind' target='_top'>More...</a></p>Nucleotide bindingi132 – 147FADBy similarityAdd BLAST16
Nucleotide bindingi171 – 206FADBy similarityAdd BLAST36

<p>The <a href="http://www.geneontology.org/">Gene Ontology (GO)</a> project provides a set of hierarchical controlled vocabulary split into 3 categories:<p><a href='/help/gene_ontology' target='_top'>More...</a></p>GO - Molecular functioni

GO - Biological processi

<p>UniProtKB Keywords constitute a <a href="http://www.uniprot.org/keywords">controlled vocabulary</a> with a hierarchical structure. Keywords summarise the content of a UniProtKB entry and facilitate the search for proteins of interest.<p><a href='/help/keywords' target='_top'>More...</a></p>Keywordsi

Molecular functionOxidoreductase
Biological processCholesterol biosynthesis, Cholesterol metabolism, Lipid biosynthesis, Lipid metabolism, Steroid biosynthesis, Steroid metabolism, Sterol biosynthesis, Sterol metabolism
LigandFAD, Flavoprotein, NAD

Enzyme and pathway databases

BioCyc Collection of Pathway/Genome Databases

More...
BioCyci
MetaCyc:HS02015-MONOMER

BRENDA Comprehensive Enzyme Information System

More...
BRENDAi
1.6.2.2 2681

Reactome - a knowledgebase of biological pathways and processes

More...
Reactomei
R-HSA-196836 Vitamin C (ascorbate) metabolism
R-HSA-211945 Phase I - Functionalization of compounds
R-HSA-6798695 Neutrophil degranulation

SABIO-RK: Biochemical Reaction Kinetics Database

More...
SABIO-RKi
P00387

<p>This section provides information about the protein and gene name(s) and synonym(s) and about the organism that is the source of the protein sequence.<p><a href='/help/names_and_taxonomy_section' target='_top'>More...</a></p>Names & Taxonomyi

<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides an exhaustive list of all names of the protein, from commonly used to obsolete, to allow unambiguous identification of a protein.<p><a href='/help/protein_names' target='_top'>More...</a></p>Protein namesi
Recommended name:
NADH-cytochrome b5 reductase 3 (EC:1.6.2.2)
Short name:
B5R
Short name:
Cytochrome b5 reductase
Alternative name(s):
Diaphorase-1
Cleaved into the following 2 chains:
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section indicates the name(s) of the gene(s) that code for the protein sequence(s) described in the entry. Four distinct tokens exist: ‘Name’, ‘Synonyms’, ‘Ordered locus names’ and ‘ORF names’.<p><a href='/help/gene_name' target='_top'>More...</a></p>Gene namesi
Name:CYB5R3
Synonyms:DIA1
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides information on the name(s) of the organism that is the source of the protein sequence.<p><a href='/help/organism-name' target='_top'>More...</a></p>OrganismiHomo sapiens (Human)
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section shows the unique identifier assigned by the NCBI to the source organism of the protein. This is known as the ‘taxonomic identifier’ or ‘taxid’.<p><a href='/help/taxonomic_identifier' target='_top'>More...</a></p>Taxonomic identifieri9606 [NCBI]
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section contains the taxonomic hierarchical classification lineage of the source organism. It lists the nodes as they appear top-down in the taxonomic tree, with the more general grouping listed first.<p><a href='/help/taxonomic_lineage' target='_top'>More...</a></p>Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section is present for entries that are part of a <a href="http://www.uniprot.org/proteomes">proteome</a>, i.e. of a set of proteins thought to be expressed by organisms whose genomes have been completely sequenced.<p><a href='/help/proteomes_manual' target='_top'>More...</a></p>Proteomesi
  • UP000005640 <p>A UniProt <a href="http://www.uniprot.org/manual/proteomes_manual">proteome</a> can consist of several components. <br></br>The component name refers to the genomic component encoding a set of proteins.<p><a href='/help/proteome_component' target='_top'>More...</a></p> Componenti: Chromosome 22

Organism-specific databases

Eukaryotic Pathogen Database Resources

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EuPathDBi
HostDB:ENSG00000100243.20

Human Gene Nomenclature Database

More...
HGNCi
HGNC:2873 CYB5R3

Online Mendelian Inheritance in Man (OMIM)

More...
MIMi
613213 gene

neXtProt; the human protein knowledge platform

More...
neXtProti
NX_P00387

<p>This section provides information on the location and the topology of the mature protein in the cell.<p><a href='/help/subcellular_location_section' target='_top'>More...</a></p>Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Keywords - Cellular componenti

Cytoplasm, Endoplasmic reticulum, Membrane, Mitochondrion, Mitochondrion outer membrane

<p>This section provides information on the disease(s) and phenotype(s) associated with a protein.<p><a href='/help/pathology_and_biotech_section' target='_top'>More...</a></p>Pathology & Biotechi

<p>This subsection of the ‘Pathology and Biotech’ section provides information on the disease(s) associated with genetic variations in a given protein. The information is extracted from the scientific literature and diseases that are also described in the <a href="http://www.ncbi.nlm.nih.gov/sites/entrez?db=omim">OMIM</a> database are represented with a <a href="http://www.uniprot.org/diseases">controlled vocabulary</a> in the following way:<p><a href='/help/involvement_in_disease' target='_top'>More...</a></p>Involvement in diseasei

Methemoglobinemia CYB5R3-related (METHB-CYB5R3)11 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA form of methemoglobinemia, a hematologic disease characterized by the presence of excessive amounts of methemoglobin in blood cells, resulting in decreased oxygen carrying capacity of the blood, cyanosis and hypoxia. There are two types of methemoglobinemia CYB5R3-related. In type 1, the defect affects the soluble form of the enzyme, is restricted to red blood cells, and causes well-tolerated methemoglobinemia. In type 2, the defect affects both the soluble and microsomal forms of the enzyme and is thus generalized, affecting red cells, leukocytes and all body tissues. Type 2 methemoglobinemia is associated with mental deficiency and other neurologic symptoms.
See also OMIM:250800
Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_00461958R → Q in METHB-CYB5R3; type 1; 62% of activity. 3 PublicationsCorresponds to variant dbSNP:rs121965007EnsemblClinVar.1
Natural variantiVAR_01075073L → P in METHB-CYB5R3; type 1. 2 PublicationsCorresponds to variant dbSNP:rs121965013EnsemblClinVar.1
Natural variantiVAR_004620106V → M in METHB-CYB5R3; type 1; 77% of activity. 1 PublicationCorresponds to variant dbSNP:rs121965009EnsemblClinVar.1
Natural variantiVAR_004621128S → P in METHB-CYB5R3; type 2; Hiroshima. 1 PublicationCorresponds to variant dbSNP:rs121965006EnsemblClinVar.1
Natural variantiVAR_004622149L → P in METHB-CYB5R3. 1 PublicationCorresponds to variant dbSNP:rs121965008EnsemblClinVar.1
Natural variantiVAR_010752179A → V in METHB-CYB5R3; type 1. 1 PublicationCorresponds to variant dbSNP:rs201232518Ensembl.1
Natural variantiVAR_010753204C → R in METHB-CYB5R3; type 2. 1 PublicationCorresponds to variant dbSNP:rs121965011EnsemblClinVar.1
Natural variantiVAR_010754204C → Y in METHB-CYB5R3; type 1. 2 PublicationsCorresponds to variant dbSNP:rs121965015EnsemblClinVar.1
Natural variantiVAR_037315256Missing in METHB-CYB5R3; type 1; retains approximately 38% of residual diaphorase activity. 2 Publications1
Natural variantiVAR_010755273Missing in METHB-CYB5R3; type 2. 1 Publication1
Natural variantiVAR_037316292G → D in METHB-CYB5R3; type 1; retains approximately 58% of residual diaphorase activity. 2 PublicationsCorresponds to variant dbSNP:rs121965016EnsemblClinVar.1
Natural variantiVAR_004623299Missing in METHB-CYB5R3; type2; almost complete loss of activity. 1 Publication1

Keywords - Diseasei

Disease mutation

Organism-specific databases

DisGeNET

More...
DisGeNETi
1727

MalaCards human disease database

More...
MalaCardsi
CYB5R3
MIMi250800 phenotype

Open Targets

More...
OpenTargetsi
ENSG00000100243

Orphanet; a database dedicated to information on rare diseases and orphan drugs

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Orphaneti
621 Hereditary methemoglobinemia

The Pharmacogenetics and Pharmacogenomics Knowledge Base

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PharmGKBi
PA27331

Chemistry databases

ChEMBL database of bioactive drug-like small molecules

More...
ChEMBLi
CHEMBL2146

Drug and drug target database

More...
DrugBanki
DB03147 Flavin adenine dinucleotide
DB00157 NADH

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...
BioMutai
CYB5R3

Domain mapping of disease mutations (DMDM)

More...
DMDMi
127846

<p>This section describes post-translational modifications (PTMs) and/or processing events.<p><a href='/help/ptm_processing_section' target='_top'>More...</a></p>PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/ptm_processing_section">PTM / Processing</a> section indicates that the initiator methionine is cleaved from the mature protein.<p><a href='/help/init_met' target='_top'>More...</a></p>Initiator methionineiRemoved1 Publication
<p>This subsection of the ‘PTM / Processing’ section describes the extent of a polypeptide chain in the mature protein following processing.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_00000193922 – 301NADH-cytochrome b5 reductase 3 membrane-bound formAdd BLAST300
ChainiPRO_000001939427 – 301NADH-cytochrome b5 reductase 3 soluble formAdd BLAST275

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/ptm_processing_section">PTM / Processing</a> section specifies the position(s) and the type of covalently attached lipid group(s).<p><a href='/help/lipid' target='_top'>More...</a></p>Lipidationi2N-myristoyl glycine2 Publications1
<p>This subsection of the ‘PTM / Processing’ section specifies the position and type of each modified residue excluding <a href="http://www.uniprot.org/manual/lipid">lipids</a>, <a href="http://www.uniprot.org/manual/carbohyd">glycans</a> and <a href="http://www.uniprot.org/manual/crosslnk">protein cross-links</a>.<p><a href='/help/mod_res' target='_top'>More...</a></p>Modified residuei42N6-acetyllysineCombined sources1
Modified residuei43PhosphotyrosineCombined sources1
Modified residuei120N6-acetyllysineBy similarity1

Keywords - PTMi

Acetylation, Lipoprotein, Myristate, Phosphoprotein

Proteomic databases

Encyclopedia of Proteome Dynamics

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EPDi
P00387

jPOST - Japan Proteome Standard Repository/Database

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jPOSTi
P00387

MaxQB - The MaxQuant DataBase

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MaxQBi
P00387

PaxDb, a database of protein abundance averages across all three domains of life

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PaxDbi
P00387

PeptideAtlas

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PeptideAtlasi
P00387

PRoteomics IDEntifications database

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PRIDEi
P00387

ProteomicsDB human proteome resource

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ProteomicsDBi
51238
51239 [P00387-2]
51240 [P00387-3]

Consortium for Top Down Proteomics

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TopDownProteomicsi
P00387-1 [P00387-1]
P00387-2 [P00387-2]

2D gel databases

REPRODUCTION-2DPAGE

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REPRODUCTION-2DPAGEi
IPI00446235

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

More...
iPTMneti
P00387

Comprehensive resource for the study of protein post-translational modifications (PTMs) in human, mouse and rat.

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PhosphoSitePlusi
P00387

SwissPalm database of S-palmitoylation events

More...
SwissPalmi
P00387

<p>This section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms.<p><a href='/help/expression_section' target='_top'>More...</a></p>Expressioni

<p>This subsection of the ‘Expression’ section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms. By default, the information is derived from experiments at the mRNA level, unless specified ‘at protein level’. <br></br>Examples: <a href="http://www.uniprot.org/uniprot/P92958#expression">P92958</a>, <a href="http://www.uniprot.org/uniprot/Q8TDN4#expression">Q8TDN4</a>, <a href="http://www.uniprot.org/uniprot/O14734#expression">O14734</a><p><a href='/help/tissue_specificity' target='_top'>More...</a></p>Tissue specificityi

Isoform 2 is expressed at late stages of erythroid maturation.

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...
Bgeei
ENSG00000100243 Expressed in 239 organ(s), highest expression level in thoracic aorta

ExpressionAtlas, Differential and Baseline Expression

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ExpressionAtlasi
P00387 baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

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Genevisiblei
P00387 HS

Organism-specific databases

Human Protein Atlas

More...
HPAi
HPA001566

<p>This section provides information on the quaternary structure of a protein and on interaction(s) with other proteins or protein complexes.<p><a href='/help/interaction_section' target='_top'>More...</a></p>Interactioni

<p>This subsection of the <a href="http://www.uniprot.org/help/interaction_section">'Interaction'</a> section provides information about the protein quaternary structure and interaction(s) with other proteins or protein complexes (with the exception of physiological receptor-ligand interactions which are annotated in the <a href="http://www.uniprot.org/help/function_section">'Function'</a> section).<p><a href='/help/subunit_structure' target='_top'>More...</a></p>Subunit structurei

Component of a complex composed of cytochrome b5, NADH-cytochrome b5 reductase (CYB5R3) and MOSC2.By similarity

<p>This subsection of the '<a href="http://www.uniprot.org/help/interaction_section%27">Interaction</a> section provides information about binary protein-protein interactions. The data presented in this section are a quality-filtered subset of binary interactions automatically derived from the <a href="http://www.ebi.ac.uk/intact/">IntAct database</a>. It is updated on a monthly basis. Each binary interaction is displayed on a separate line.<p><a href='/help/binary_interactions' target='_top'>More...</a></p>Binary interactionsi

WithEntry#Exp.IntActNotes
HBA2P699052EBI-1046040,EBI-714680

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGrid)

More...
BioGridi
108071, 48 interactors

Database of interacting proteins

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DIPi
DIP-50463N

Protein interaction database and analysis system

More...
IntActi
P00387, 69 interactors

STRING: functional protein association networks

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STRINGi
9606.ENSP00000354468

<p>This section provides information on the tertiary and secondary structure of a protein.<p><a href='/help/structure_section' target='_top'>More...</a></p>Structurei

Secondary structure

1301
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details

3D structure databases

Select the link destinations:

Protein Data Bank Europe

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PDBei

Protein Data Bank RCSB

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RCSB PDBi

Protein Data Bank Japan

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PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
1M91model-A1-301[»]
1UMKX-ray1.75A27-301[»]

Protein Model Portal of the PSI-Nature Structural Biology Knowledgebase

More...
ProteinModelPortali
P00387

SWISS-MODEL Repository - a database of annotated 3D protein structure models

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SMRi
P00387

Database of comparative protein structure models

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ModBasei
Search...

MobiDB: a database of protein disorder and mobility annotations

More...
MobiDBi
Search...

Miscellaneous databases

Relative evolutionary importance of amino acids within a protein sequence

More...
EvolutionaryTracei
P00387

<p>This section provides information on sequence similarities with other proteins and the domain(s) present in a protein.<p><a href='/help/family_and_domains_section' target='_top'>More...</a></p>Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/family_and_domains_section">Family and Domains</a> section describes the position and type of a domain, which is defined as a specific combination of secondary structures organized into a characteristic three-dimensional structure or fold.<p><a href='/help/domain' target='_top'>More...</a></p>Domaini40 – 152FAD-binding FR-typePROSITE-ProRule annotationAdd BLAST113

<p>This subsection of the ‘Family and domains’ section provides information about the sequence similarity with other proteins.<p><a href='/help/sequence_similarities' target='_top'>More...</a></p>Sequence similaritiesi

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...
eggNOGi
KOG0534 Eukaryota
COG0543 LUCA

Ensembl GeneTree

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GeneTreei
ENSGT00940000153962

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

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HOGENOMi
HOG000175005

The HOVERGEN Database of Homologous Vertebrate Genes

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HOVERGENi
HBG052580

InParanoid: Eukaryotic Ortholog Groups

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InParanoidi
P00387

KEGG Orthology (KO)

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KOi
K00326

Identification of Orthologs from Complete Genome Data

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OMAi
HNTAIYR

Database of Orthologous Groups

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OrthoDBi
1311668at2759

Database for complete collections of gene phylogenies

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PhylomeDBi
P00387

TreeFam database of animal gene trees

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TreeFami
TF314333

Family and domain databases

Gene3D Structural and Functional Annotation of Protein Families

More...
Gene3Di
3.40.50.80, 1 hit

Integrated resource of protein families, domains and functional sites

More...
InterProi
View protein in InterPro
IPR001834 CBR-like
IPR008333 Cbr1-like_FAD-bd_dom
IPR017927 FAD-bd_FR_type
IPR001709 Flavoprot_Pyr_Nucl_cyt_Rdtase
IPR039261 FNR_nucleotide-bd
IPR001433 OxRdtase_FAD/NAD-bd
IPR017938 Riboflavin_synthase-like_b-brl

Pfam protein domain database

More...
Pfami
View protein in Pfam
PF00970 FAD_binding_6, 1 hit
PF00175 NAD_binding_1, 1 hit

Protein Motif fingerprint database; a protein domain database

More...
PRINTSi
PR00406 CYTB5RDTASE
PR00371 FPNCR

Superfamily database of structural and functional annotation

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SUPFAMi
SSF52343 SSF52343, 1 hit
SSF63380 SSF63380, 1 hit

PROSITE; a protein domain and family database

More...
PROSITEi
View protein in PROSITE
PS51384 FAD_FR, 1 hit

<p>This section displays by default the canonical protein sequence and upon request all isoforms described in the entry. It also includes information pertinent to the sequence(s), including <a href="http://www.uniprot.org/help/sequence_length">length</a> and <a href="http://www.uniprot.org/help/sequences">molecular weight</a>.<p><a href='/help/sequences_section' target='_top'>More...</a></p>Sequences (3+)i

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences_section">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> displayed by default in the entry is complete or not.<p><a href='/help/sequence_status' target='_top'>More...</a></p>Sequence statusi: Complete.

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences_section">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> displayed by default in the entry is in its mature form or if it represents the precursor.<p><a href='/help/sequence_processing' target='_top'>More...</a></p>Sequence processingi: The displayed sequence is further processed into a mature form.

This entry describes 3 <p>This subsection of the ‘Sequence’ section lists the alternative protein sequences (isoforms) that can be generated from the same gene by a single or by the combination of up to four biological events (alternative promoter usage, alternative splicing, alternative initiation and ribosomal frameshifting). Additionally, this section gives relevant information on each alternative protein isoform.<p><a href='/help/alternative_products' target='_top'>More...</a></p> isoformsi produced by alternative promoter usage and alternative splicing. AlignAdd to basket

This entry has 3 described isoforms and 1 potential isoform that is computationally mapped.Show allAlign All

Isoform 1 (identifier: P00387-1) [UniParc]FASTAAdd to basket
Also known as: M

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide
        10         20         30         40         50
MGAQLSTLGH MVLFPVWFLY SLLMKLFQRS TPAITLESPD IKYPLRLIDR
60 70 80 90 100
EIISHDTRRF RFALPSPQHI LGLPVGQHIY LSARIDGNLV VRPYTPISSD
110 120 130 140 150
DDKGFVDLVI KVYFKDTHPK FPAGGKMSQY LESMQIGDTI EFRGPSGLLV
160 170 180 190 200
YQGKGKFAIR PDKKSNPIIR TVKSVGMIAG GTGITPMLQV IRAIMKDPDD
210 220 230 240 250
HTVCHLLFAN QTEKDILLRP ELEELRNKHS ARFKLWYTLD RAPEAWDYGQ
260 270 280 290 300
GFVNEEMIRD HLPPPEEEPL VLMCGPPPMI QYACLPNLDH VGHPTERCFV

F
Length:301
Mass (Da):34,235
Last modified:January 23, 2007 - v3
<p>The checksum is a form of redundancy check that is calculated from the sequence. It is useful for tracking sequence updates.</p> <p>It should be noted that while, in theory, two different sequences could have the same checksum value, the likelihood that this would happen is extremely low.</p> <p>However UniProtKB may contain entries with identical sequences in case of multiple genes (paralogs).</p> <p>The checksum is computed as the sequence 64-bit Cyclic Redundancy Check value (CRC64) using the generator polynomial: x<sup>64</sup> + x<sup>4</sup> + x<sup>3</sup> + x + 1. The algorithm is described in the ISO 3309 standard. </p> <p class="publication">Press W.H., Flannery B.P., Teukolsky S.A. and Vetterling W.T.<br /> <strong>Cyclic redundancy and other checksums</strong><br /> <a href="http://www.nrbook.com/b/bookcpdf.php">Numerical recipes in C 2nd ed., pp896-902, Cambridge University Press (1993)</a>)</p> Checksum:iFDCDCDC4EC3570B4
GO
Isoform 2 (identifier: P00387-2) [UniParc]FASTAAdd to basket
Also known as: S

The sequence of this isoform differs from the canonical sequence as follows:
     1-23: Missing.

Show »
Length:278
Mass (Da):31,629
Checksum:i229597F14FA6582E
GO
Isoform 3 (identifier: P00387-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-7: MGAQLST → MNRSLLVGCMQSKDIWGREESICERLKQDGLDVERAESWE

Note: No experimental confirmation available.
Show »
Length:334
Mass (Da):38,226
Checksum:i91CCE3D9A18621E8
GO

<p>In eukaryotic reference proteomes, unreviewed entries that are likely to belong to the same gene are computationally mapped, based on gene identifiers from Ensembl, EnsemblGenomes and model organism databases.<p><a href='/help/gene_centric_isoform_mapping' target='_top'>More...</a></p>Computationally mapped potential isoform sequencesi

There is 1 potential isoform mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
B1AHF3B1AHF3_HUMAN
NADH-cytochrome b5 reductase 3
CYB5R3
147Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section reports difference(s) between the canonical sequence (displayed by default in the entry) and the different sequence submissions merged in the entry. These various submissions may originate from different sequencing projects, different types of experiments, or different biological samples. Sequence conflicts are usually of unknown origin.<p><a href='/help/conflict' target='_top'>More...</a></p>Sequence conflicti28 – 32QRSTP → RWPRA in AAA52307 (PubMed:3035541).Curated5
Sequence conflicti29R → G in AAA59900 (PubMed:2479590).Curated1
Sequence conflicti31T → K in CAA09006 (Ref. 4) Curated1
Sequence conflicti31T → K in CAA09007 (Ref. 4) Curated1
Sequence conflicti31T → K in CAA09008 (Ref. 4) Curated1
Sequence conflicti34 – 35IT → LA in AAA52307 (PubMed:3035541).Curated2
Sequence conflicti187 – 188ML → IV in CAA09006 (Ref. 4) Curated2
Sequence conflicti187 – 188ML → IV in CAA09007 (Ref. 4) Curated2
Sequence conflicti191 – 192IR → MS in CAA09006 (Ref. 4) Curated2
Sequence conflicti191 – 192IR → MS in CAA09007 (Ref. 4) Curated2
Sequence conflicti192R → G in AAA52306 (PubMed:3035541).Curated1
Sequence conflicti233 – 234FK → CN in CAA09006 (Ref. 4) Curated2
Sequence conflicti233 – 234FK → CN in CAA09007 (Ref. 4) Curated2
Sequence conflicti280I → N in AAL87744 (Ref. 3) Curated1

<p>This subsection of the ‘Sequence’ section provides information on polymorphic variants. If the variant is associated with a disease state, the description of the latter can be found in the <a href="http://www.uniprot.org/manual/involvement_in_disease">'Involvement in disease'</a> subsection.<p><a href='/help/polymorphism' target='_top'>More...</a></p>Polymorphismi

Ser-117 seems to only be found in persons of African origin. The allele frequency is 0.23 in African Americans. It was not found in Caucasians, Asians, Indo-Aryans, or Arabs. There seems to be no effect on the enzyme activity.1 Publication

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_00461958R → Q in METHB-CYB5R3; type 1; 62% of activity. 3 PublicationsCorresponds to variant dbSNP:rs121965007EnsemblClinVar.1
Natural variantiVAR_01841966S → P3 PublicationsCorresponds to variant dbSNP:rs1130706Ensembl.1
Natural variantiVAR_01075073L → P in METHB-CYB5R3; type 1. 2 PublicationsCorresponds to variant dbSNP:rs121965013EnsemblClinVar.1
Natural variantiVAR_004620106V → M in METHB-CYB5R3; type 1; 77% of activity. 1 PublicationCorresponds to variant dbSNP:rs121965009EnsemblClinVar.1
Natural variantiVAR_010751117T → S2 PublicationsCorresponds to variant dbSNP:rs1800457EnsemblClinVar.1
Natural variantiVAR_004621128S → P in METHB-CYB5R3; type 2; Hiroshima. 1 PublicationCorresponds to variant dbSNP:rs121965006EnsemblClinVar.1
Natural variantiVAR_004622149L → P in METHB-CYB5R3. 1 PublicationCorresponds to variant dbSNP:rs121965008EnsemblClinVar.1
Natural variantiVAR_010752179A → V in METHB-CYB5R3; type 1. 1 PublicationCorresponds to variant dbSNP:rs201232518Ensembl.1
Natural variantiVAR_010753204C → R in METHB-CYB5R3; type 2. 1 PublicationCorresponds to variant dbSNP:rs121965011EnsemblClinVar.1
Natural variantiVAR_010754204C → Y in METHB-CYB5R3; type 1. 2 PublicationsCorresponds to variant dbSNP:rs121965015EnsemblClinVar.1
Natural variantiVAR_037315256Missing in METHB-CYB5R3; type 1; retains approximately 38% of residual diaphorase activity. 2 Publications1
Natural variantiVAR_010755273Missing in METHB-CYB5R3; type 2. 1 Publication1
Natural variantiVAR_037316292G → D in METHB-CYB5R3; type 1; retains approximately 58% of residual diaphorase activity. 2 PublicationsCorresponds to variant dbSNP:rs121965016EnsemblClinVar.1
Natural variantiVAR_004623299Missing in METHB-CYB5R3; type2; almost complete loss of activity. 1 Publication1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section describes the sequence of naturally occurring alternative protein isoform(s). The changes in the amino acid sequence may be due to alternative splicing, alternative promoter usage, alternative initiation, or ribosomal frameshifting.<p><a href='/help/var_seq' target='_top'>More...</a></p>Alternative sequenceiVSP_0102001 – 23Missing in isoform 2. CuratedAdd BLAST23
Alternative sequenceiVSP_0428271 – 7MGAQLST → MNRSLLVGCMQSKDIWGREE SICERLKQDGLDVERAESWE in isoform 3. 1 Publication7

Sequence databases

Select the link destinations:

EMBL nucleotide sequence database

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EMBLi

GenBank nucleotide sequence database

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GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

More...
DDBJi
Links Updated
M28713
, M28705, M28706, M28707, M28708, M28709, M28710, M28711 Genomic DNA Translation: AAA59900.1
Y09501 mRNA Translation: CAA70696.1
AF361370 mRNA Translation: AAL87744.1
AJ010116 mRNA Translation: CAA09006.1
AJ010117 mRNA Translation: CAA09007.1
AJ010118 mRNA Translation: CAA09008.1
AY341030 Genomic DNA Translation: AAP88936.1
BT009821 mRNA Translation: AAP88823.1
CR456435 mRNA Translation: CAG30321.1
AF061830 Genomic DNA Translation: AAF06818.1
AF061831 Genomic DNA Translation: AAF06819.1
AK302204 mRNA Translation: BAH13649.1
Z93241 Genomic DNA No translation available.
BC004821 mRNA Translation: AAH04821.1
AJ310899 mRNA Translation: CAC84523.1
AJ310900 mRNA Translation: CAC84524.1
M16461 mRNA Translation: AAA52306.1
M16462 mRNA Translation: AAA52307.1

The Consensus CDS (CCDS) project

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CCDSi
CCDS14040.1 [P00387-2]
CCDS33658.1 [P00387-1]
CCDS54535.1 [P00387-3]

Protein sequence database of the Protein Information Resource

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PIRi
JS0468 RDHUB5

NCBI Reference Sequences

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RefSeqi
NP_000389.1, NM_000398.6 [P00387-1]
NP_001123291.1, NM_001129819.2 [P00387-2]
NP_001165131.1, NM_001171660.1 [P00387-3]
NP_001165132.1, NM_001171661.1 [P00387-2]
NP_015565.1, NM_007326.4 [P00387-2]

UniGene gene-oriented nucleotide sequence clusters

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UniGenei
Hs.561064

Genome annotation databases

Ensembl eukaryotic genome annotation project

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Ensembli
ENST00000352397; ENSP00000338461; ENSG00000100243 [P00387-1]
ENST00000361740; ENSP00000354468; ENSG00000100243 [P00387-3]
ENST00000402438; ENSP00000385679; ENSG00000100243 [P00387-2]
ENST00000407332; ENSP00000384457; ENSG00000100243 [P00387-2]
ENST00000407623; ENSP00000384834; ENSG00000100243 [P00387-2]

Database of genes from NCBI RefSeq genomes

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GeneIDi
1727

KEGG: Kyoto Encyclopedia of Genes and Genomes

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KEGGi
hsa:1727

UCSC genome browser

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UCSCi
uc003bcx.4 human [P00387-1]

Keywords - Coding sequence diversityi

Alternative promoter usage, Alternative splicing, Polymorphism

<p>This section provides links to proteins that are similar to the protein sequence(s) described in this entry at different levels of sequence identity thresholds (100%, 90% and 50%) based on their membership in UniProt Reference Clusters (<a href="http://www.uniprot.org/help/uniref">UniRef</a>).<p><a href='/help/similar_proteins_section' target='_top'>More...</a></p>Similar proteinsi

<p>This section is used to point to information related to entries and found in data collections other than UniProtKB.<p><a href='/help/cross_references_section' target='_top'>More...</a></p>Cross-referencesi

<p>This subsection of the <a href="http://www.uniprot.org/manual/cross_references_section">Cross-references</a> section provides links to various web resources that are relevant for a specific protein.<p><a href='/help/web_resource' target='_top'>More...</a></p>Web resourcesi

NIEHS-SNPs

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
M28713
, M28705, M28706, M28707, M28708, M28709, M28710, M28711 Genomic DNA Translation: AAA59900.1
Y09501 mRNA Translation: CAA70696.1
AF361370 mRNA Translation: AAL87744.1
AJ010116 mRNA Translation: CAA09006.1
AJ010117 mRNA Translation: CAA09007.1
AJ010118 mRNA Translation: CAA09008.1
AY341030 Genomic DNA Translation: AAP88936.1
BT009821 mRNA Translation: AAP88823.1
CR456435 mRNA Translation: CAG30321.1
AF061830 Genomic DNA Translation: AAF06818.1
AF061831 Genomic DNA Translation: AAF06819.1
AK302204 mRNA Translation: BAH13649.1
Z93241 Genomic DNA No translation available.
BC004821 mRNA Translation: AAH04821.1
AJ310899 mRNA Translation: CAC84523.1
AJ310900 mRNA Translation: CAC84524.1
M16461 mRNA Translation: AAA52306.1
M16462 mRNA Translation: AAA52307.1
CCDSiCCDS14040.1 [P00387-2]
CCDS33658.1 [P00387-1]
CCDS54535.1 [P00387-3]
PIRiJS0468 RDHUB5
RefSeqiNP_000389.1, NM_000398.6 [P00387-1]
NP_001123291.1, NM_001129819.2 [P00387-2]
NP_001165131.1, NM_001171660.1 [P00387-3]
NP_001165132.1, NM_001171661.1 [P00387-2]
NP_015565.1, NM_007326.4 [P00387-2]
UniGeneiHs.561064

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
1M91model-A1-301[»]
1UMKX-ray1.75A27-301[»]
ProteinModelPortaliP00387
SMRiP00387
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi108071, 48 interactors
DIPiDIP-50463N
IntActiP00387, 69 interactors
STRINGi9606.ENSP00000354468

Chemistry databases

ChEMBLiCHEMBL2146
DrugBankiDB03147 Flavin adenine dinucleotide
DB00157 NADH

PTM databases

iPTMnetiP00387
PhosphoSitePlusiP00387
SwissPalmiP00387

Polymorphism and mutation databases

BioMutaiCYB5R3
DMDMi127846

2D gel databases

REPRODUCTION-2DPAGEiIPI00446235

Proteomic databases

EPDiP00387
jPOSTiP00387
MaxQBiP00387
PaxDbiP00387
PeptideAtlasiP00387
PRIDEiP00387
ProteomicsDBi51238
51239 [P00387-2]
51240 [P00387-3]
TopDownProteomicsiP00387-1 [P00387-1]
P00387-2 [P00387-2]

Protocols and materials databases

The DNASU plasmid repository

More...
DNASUi
1727
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000352397; ENSP00000338461; ENSG00000100243 [P00387-1]
ENST00000361740; ENSP00000354468; ENSG00000100243 [P00387-3]
ENST00000402438; ENSP00000385679; ENSG00000100243 [P00387-2]
ENST00000407332; ENSP00000384457; ENSG00000100243 [P00387-2]
ENST00000407623; ENSP00000384834; ENSG00000100243 [P00387-2]
GeneIDi1727
KEGGihsa:1727
UCSCiuc003bcx.4 human [P00387-1]

Organism-specific databases

Comparative Toxicogenomics Database

More...
CTDi
1727
DisGeNETi1727
EuPathDBiHostDB:ENSG00000100243.20

GeneCards: human genes, protein and diseases

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GeneCardsi
CYB5R3
HGNCiHGNC:2873 CYB5R3
HPAiHPA001566
MalaCardsiCYB5R3
MIMi250800 phenotype
613213 gene
neXtProtiNX_P00387
OpenTargetsiENSG00000100243
Orphaneti621 Hereditary methemoglobinemia
PharmGKBiPA27331

GenAtlas: human gene database

More...
GenAtlasi
Search...

Phylogenomic databases

eggNOGiKOG0534 Eukaryota
COG0543 LUCA
GeneTreeiENSGT00940000153962
HOGENOMiHOG000175005
HOVERGENiHBG052580
InParanoidiP00387
KOiK00326
OMAiHNTAIYR
OrthoDBi1311668at2759
PhylomeDBiP00387
TreeFamiTF314333

Enzyme and pathway databases

BioCyciMetaCyc:HS02015-MONOMER
BRENDAi1.6.2.2 2681
ReactomeiR-HSA-196836 Vitamin C (ascorbate) metabolism
R-HSA-211945 Phase I - Functionalization of compounds
R-HSA-6798695 Neutrophil degranulation
SABIO-RKiP00387

Miscellaneous databases

EvolutionaryTraceiP00387

The Gene Wiki collection of pages on human genes and proteins

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GeneWikii
CYB5R3

Database of phenotypes from RNA interference screens in Drosophila and Homo sapiens

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GenomeRNAii
1727

Protein Ontology

More...
PROi
PR:P00387

The Stanford Online Universal Resource for Clones and ESTs

More...
SOURCEi
Search...

Gene expression databases

BgeeiENSG00000100243 Expressed in 239 organ(s), highest expression level in thoracic aorta
ExpressionAtlasiP00387 baseline and differential
GenevisibleiP00387 HS

Family and domain databases

Gene3Di3.40.50.80, 1 hit
InterProiView protein in InterPro
IPR001834 CBR-like
IPR008333 Cbr1-like_FAD-bd_dom
IPR017927 FAD-bd_FR_type
IPR001709 Flavoprot_Pyr_Nucl_cyt_Rdtase
IPR039261 FNR_nucleotide-bd
IPR001433 OxRdtase_FAD/NAD-bd
IPR017938 Riboflavin_synthase-like_b-brl
PfamiView protein in Pfam
PF00970 FAD_binding_6, 1 hit
PF00175 NAD_binding_1, 1 hit
PRINTSiPR00406 CYTB5RDTASE
PR00371 FPNCR
SUPFAMiSSF52343 SSF52343, 1 hit
SSF63380 SSF63380, 1 hit
PROSITEiView protein in PROSITE
PS51384 FAD_FR, 1 hit

ProtoNet; Automatic hierarchical classification of proteins

More...
ProtoNeti
Search...

<p>This section provides general information on the entry.<p><a href='/help/entry_information_section' target='_top'>More...</a></p>Entry informationi

<p>This subsection of the ‘Entry information’ section provides a mnemonic identifier for a UniProtKB entry, but it is not a stable identifier. Each reviewed entry is assigned a unique entry name upon integration into UniProtKB/Swiss-Prot.<p><a href='/help/entry_name' target='_top'>More...</a></p>Entry nameiNB5R3_HUMAN
<p>This subsection of the ‘Entry information’ section provides one or more accession number(s). These are stable identifiers and should be used to cite UniProtKB entries. Upon integration into UniProtKB, each entry is assigned a unique accession number, which is called ‘Primary (citable) accession number’.<p><a href='/help/accession_numbers' target='_top'>More...</a></p>AccessioniPrimary (citable) accession number: P00387
Secondary accession number(s): B1AHF2
, B7Z7L3, O75675, Q8TDL8, Q8WTS8, Q9UEN4, Q9UEN5, Q9UL55, Q9UL56
<p>This subsection of the ‘Entry information’ section shows the date of integration of the entry into UniProtKB, the date of the last sequence update and the date of the last annotation modification (‘Last modified’). The version number for both the entry and the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> are also displayed.<p><a href='/help/entry_history' target='_top'>More...</a></p>Entry historyiIntegrated into UniProtKB/Swiss-Prot: July 21, 1986
Last sequence update: January 23, 2007
Last modified: February 13, 2019
This is version 239 of the entry and version 3 of the sequence. See complete history.
<p>This subsection of the ‘Entry information’ section indicates whether the entry has been manually annotated and reviewed by UniProtKB curators or not, in other words, if the entry belongs to the Swiss-Prot section of UniProtKB (<strong>reviewed</strong>) or to the computer-annotated TrEMBL section (<strong>unreviewed</strong>).<p><a href='/help/entry_status' target='_top'>More...</a></p>Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

<p>This section contains any relevant information that doesn’t fit in any other defined sections<p><a href='/help/miscellaneous_section' target='_top'>More...</a></p>Miscellaneousi

Keywords - Technical termi

3D-structure, Complete proteome, Direct protein sequencing, Reference proteome

Documents

  1. SIMILARITY comments
    Index of protein domains and families
  2. Human chromosome 22
    Human chromosome 22: entries, gene names and cross-references to MIM
  3. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  6. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
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