UniProtKB - Q9UHQ9 (NB5R1_HUMAN)
Protein
NADH-cytochrome b5 reductase 1
Gene
CYB5R1
Organism
Homo sapiens (Human)
Status
Functioni
NADH-cytochrome b5 reductases are involved in desaturation and elongation of fatty acids, cholesterol biosynthesis, drug metabolism, and, in erythrocyte, methemoglobin reduction.By similarity
Catalytic activityi
- EC:1.6.2.2
Cofactori
FADBy similarity
Regions
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Nucleotide bindingi | 136 – 166 | FADBy similarityAdd BLAST | 31 | |
Nucleotide bindingi | 175 – 210 | FADBy similarityAdd BLAST | 36 |
GO - Molecular functioni
- cytochrome-b5 reductase activity, acting on NAD(P)H Source: UniProtKB-EC
- FAD binding Source: GO_Central
GO - Biological processi
- bicarbonate transport Source: Reactome
- platelet degranulation Source: Reactome
- sterol biosynthetic process Source: UniProtKB-KW
Keywordsi
Molecular function | Oxidoreductase |
Biological process | Lipid biosynthesis, Lipid metabolism, Steroid biosynthesis, Steroid metabolism, Sterol biosynthesis, Sterol metabolism |
Ligand | FAD, Flavoprotein, NAD |
Enzyme and pathway databases
PathwayCommonsi | Q9UHQ9 |
Reactomei | R-HSA-114608, Platelet degranulation R-HSA-1237044, Erythrocytes take up carbon dioxide and release oxygen |
Names & Taxonomyi
Protein namesi | Recommended name: NADH-cytochrome b5 reductase 1 (EC:1.6.2.2)Short name: b5R.1 Alternative name(s): Humb5R2 NAD(P)H:quinone oxidoreductase type 3 polypeptide A2 |
Gene namesi | Name:CYB5R1 Synonyms:NQO3A2 ORF Names:UNQ3049/PRO9865 |
Organismi | Homo sapiens (Human) |
Taxonomic identifieri | 9606 [NCBI] |
Taxonomic lineagei | Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo |
Proteomesi |
|
Organism-specific databases
EuPathDBi | HostDB:ENSG00000159348.12 |
HGNCi | HGNC:13397, CYB5R1 |
MIMi | 608341, gene |
neXtProti | NX_Q9UHQ9 |
Subcellular locationi
Other locations
- Membrane Curated; Single-pass membrane protein Curated
Endoplasmic reticulum
- endoplasmic reticulum membrane Source: Reactome
Extracellular region or secreted
- extracellular exosome Source: UniProtKB
Mitochondrion
- mitochondrion Source: UniProtKB
Plasma Membrane
- plasma membrane Source: Reactome
Other locations
- integral component of membrane Source: UniProtKB-KW
- membrane Source: UniProtKB
- platelet alpha granule membrane Source: Reactome
Topology
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Transmembranei | 8 – 28 | HelicalSequence analysisAdd BLAST | 21 |
Keywords - Cellular componenti
MembranePathology & Biotechi
Organism-specific databases
DisGeNETi | 51706 |
OpenTargetsi | ENSG00000159348 |
PharmGKBi | PA134979668 |
Miscellaneous databases
Pharosi | Q9UHQ9, Tbio |
Chemistry databases
DrugBanki | DB03147, Flavin adenine dinucleotide |
Polymorphism and mutation databases
BioMutai | CYB5R1 |
DMDMi | 74761957 |
PTM / Processingi
Molecule processing
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
ChainiPRO_0000287545 | 1 – 305 | NADH-cytochrome b5 reductase 1Add BLAST | 305 |
Proteomic databases
EPDi | Q9UHQ9 |
jPOSTi | Q9UHQ9 |
MassIVEi | Q9UHQ9 |
MaxQBi | Q9UHQ9 |
PaxDbi | Q9UHQ9 |
PeptideAtlasi | Q9UHQ9 |
PRIDEi | Q9UHQ9 |
ProteomicsDBi | 84401 |
PTM databases
CarbonylDBi | Q9UHQ9 |
iPTMneti | Q9UHQ9 |
PhosphoSitePlusi | Q9UHQ9 |
Expressioni
Tissue specificityi
Widely expressed.1 Publication
Gene expression databases
Bgeei | ENSG00000159348, Expressed in gastrocnemius and 239 other tissues |
ExpressionAtlasi | Q9UHQ9, baseline and differential |
Genevisiblei | Q9UHQ9, HS |
Organism-specific databases
HPAi | ENSG00000159348, Tissue enhanced (skeletal) |
Interactioni
Binary interactionsi
Hide detailsQ9UHQ9
Protein-protein interaction databases
BioGRIDi | 119690, 77 interactors |
IntActi | Q9UHQ9, 23 interactors |
STRINGi | 9606.ENSP00000356218 |
Miscellaneous databases
RNActi | Q9UHQ9, protein |
Family & Domainsi
Domains and Repeats
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Domaini | 44 – 156 | FAD-binding FR-typePROSITE-ProRule annotationAdd BLAST | 113 |
Sequence similaritiesi
Belongs to the flavoprotein pyridine nucleotide cytochrome reductase family.Curated
Keywords - Domaini
Transmembrane, Transmembrane helixPhylogenomic databases
eggNOGi | KOG0534, Eukaryota |
GeneTreei | ENSGT00940000160784 |
HOGENOMi | CLU_003827_9_2_1 |
InParanoidi | Q9UHQ9 |
OMAi | HPPEDWA |
OrthoDBi | 1311668at2759 |
PhylomeDBi | Q9UHQ9 |
TreeFami | TF314333 |
Family and domain databases
Gene3Di | 3.40.50.80, 1 hit |
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 |
Pfami | View protein in Pfam PF00970, FAD_binding_6, 1 hit PF00175, NAD_binding_1, 1 hit |
PRINTSi | PR00406, CYTB5RDTASE PR00371, FPNCR |
SUPFAMi | SSF52343, SSF52343, 1 hit SSF63380, SSF63380, 1 hit |
PROSITEi | View protein in PROSITE PS51384, FAD_FR, 1 hit |
(1+)i Sequence
Sequence statusi: Complete.
This entry has 1 described isoform and 1 potential isoform that is computationally mapped.Show allAlign All
Q9UHQ9-1 [UniParc]FASTAAdd to basket
10 20 30 40 50
MGIQTSPVLL ASLGVGLVTL LGLAVGSYLV RRSRRPQVTL LDPNEKYLLR
60 70 80 90 100
LLDKTTVSHN TKRFRFALPT AHHTLGLPVG KHIYLSTRID GSLVIRPYTP
110 120 130 140 150
VTSDEDQGYV DLVIKVYLKG VHPKFPEGGK MSQYLDSLKV GDVVEFRGPS
160 170 180 190 200
GLLTYTGKGH FNIQPNKKSP PEPRVAKKLG MIAGGTGITP MLQLIRAILK
210 220 230 240 250
VPEDPTQCFL LFANQTEKDI ILREDLEELQ ARYPNRFKLW FTLDHPPKDW
260 270 280 290 300
AYSKGFVTAD MIREHLPAPG DDVLVLLCGP PPMVQLACHP NLDKLGYSQK
MRFTY
Computationally mapped potential isoform sequencesi
There is 1 potential isoform mapped to this entry.BLASTAlignShow allAdd to basketH7C0R7 | H7C0R7_HUMAN | Cytochrome-b5 reductase | CYB5R1 | 226 | Annotation score: |
Sequence cautioni
The sequence AAC72953 differs from that shown. Reason: Erroneous initiation.Curated
The sequence AAI27946 differs from that shown. Reason: Erroneous initiation.Curated
Experimental Info
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Sequence conflicti | 82 | H → R in BAD97136 (Ref. 7) Curated | 1 | |
Sequence conflicti | 92 | S → N in AAF06147 (PubMed:10611283).Curated | 1 | |
Sequence conflicti | 142 | D → H in AAF06147 (PubMed:10611283).Curated | 1 | |
Sequence conflicti | 212 | F → S in BAC11115 (PubMed:16303743).Curated | 1 |
Natural variant
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_032320 | 44 | N → S. Corresponds to variant dbSNP:rs2232842Ensembl. | 1 |
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi Links Updated | AF169481 mRNA Translation: AAF06147.1 AF087912 mRNA Translation: AAP97209.1 AF093822 mRNA Translation: AAP97218.1 AY359026 mRNA Translation: AAQ89385.1 AK074654 mRNA Translation: BAC11115.1 AF125533 mRNA Translation: AAF17227.1 AK223416 mRNA Translation: BAD97136.1 AK313333 mRNA Translation: BAG36137.1 CH471067 Genomic DNA Translation: EAW91452.1 BC018732 mRNA Translation: AAH18732.1 BC127945 mRNA Translation: AAI27946.1 Different initiation. AF091084 mRNA Translation: AAC72953.1 Different initiation. |
CCDSi | CCDS1431.1 |
RefSeqi | NP_057327.2, NM_016243.2 |
Genome annotation databases
Ensembli | ENST00000367249; ENSP00000356218; ENSG00000159348 |
GeneIDi | 51706 |
KEGGi | hsa:51706 |
UCSCi | uc001gyt.3, human |
Keywords - Coding sequence diversityi
PolymorphismSimilar proteinsi
Cross-referencesi
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi Links Updated | AF169481 mRNA Translation: AAF06147.1 AF087912 mRNA Translation: AAP97209.1 AF093822 mRNA Translation: AAP97218.1 AY359026 mRNA Translation: AAQ89385.1 AK074654 mRNA Translation: BAC11115.1 AF125533 mRNA Translation: AAF17227.1 AK223416 mRNA Translation: BAD97136.1 AK313333 mRNA Translation: BAG36137.1 CH471067 Genomic DNA Translation: EAW91452.1 BC018732 mRNA Translation: AAH18732.1 BC127945 mRNA Translation: AAI27946.1 Different initiation. AF091084 mRNA Translation: AAC72953.1 Different initiation. |
CCDSi | CCDS1431.1 |
RefSeqi | NP_057327.2, NM_016243.2 |
3D structure databases
SMRi | Q9UHQ9 |
ModBasei | Search... |
Protein-protein interaction databases
BioGRIDi | 119690, 77 interactors |
IntActi | Q9UHQ9, 23 interactors |
STRINGi | 9606.ENSP00000356218 |
Chemistry databases
DrugBanki | DB03147, Flavin adenine dinucleotide |
PTM databases
CarbonylDBi | Q9UHQ9 |
iPTMneti | Q9UHQ9 |
PhosphoSitePlusi | Q9UHQ9 |
Polymorphism and mutation databases
BioMutai | CYB5R1 |
DMDMi | 74761957 |
Proteomic databases
EPDi | Q9UHQ9 |
jPOSTi | Q9UHQ9 |
MassIVEi | Q9UHQ9 |
MaxQBi | Q9UHQ9 |
PaxDbi | Q9UHQ9 |
PeptideAtlasi | Q9UHQ9 |
PRIDEi | Q9UHQ9 |
ProteomicsDBi | 84401 |
Protocols and materials databases
Antibodypediai | 2536, 246 antibodies |
DNASUi | 51706 |
Genome annotation databases
Ensembli | ENST00000367249; ENSP00000356218; ENSG00000159348 |
GeneIDi | 51706 |
KEGGi | hsa:51706 |
UCSCi | uc001gyt.3, human |
Organism-specific databases
CTDi | 51706 |
DisGeNETi | 51706 |
EuPathDBi | HostDB:ENSG00000159348.12 |
GeneCardsi | CYB5R1 |
HGNCi | HGNC:13397, CYB5R1 |
HPAi | ENSG00000159348, Tissue enhanced (skeletal) |
MIMi | 608341, gene |
neXtProti | NX_Q9UHQ9 |
OpenTargetsi | ENSG00000159348 |
PharmGKBi | PA134979668 |
GenAtlasi | Search... |
Phylogenomic databases
eggNOGi | KOG0534, Eukaryota |
GeneTreei | ENSGT00940000160784 |
HOGENOMi | CLU_003827_9_2_1 |
InParanoidi | Q9UHQ9 |
OMAi | HPPEDWA |
OrthoDBi | 1311668at2759 |
PhylomeDBi | Q9UHQ9 |
TreeFami | TF314333 |
Enzyme and pathway databases
PathwayCommonsi | Q9UHQ9 |
Reactomei | R-HSA-114608, Platelet degranulation R-HSA-1237044, Erythrocytes take up carbon dioxide and release oxygen |
Miscellaneous databases
BioGRID-ORCSi | 51706, 3 hits in 845 CRISPR screens |
ChiTaRSi | CYB5R1, human |
GeneWikii | CYB5R1 |
GenomeRNAii | 51706 |
Pharosi | Q9UHQ9, Tbio |
PROi | PR:Q9UHQ9 |
RNActi | Q9UHQ9, protein |
SOURCEi | Search... |
Gene expression databases
Bgeei | ENSG00000159348, Expressed in gastrocnemius and 239 other tissues |
ExpressionAtlasi | Q9UHQ9, baseline and differential |
Genevisiblei | Q9UHQ9, HS |
Family and domain databases
Gene3Di | 3.40.50.80, 1 hit |
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 |
Pfami | View protein in Pfam PF00970, FAD_binding_6, 1 hit PF00175, NAD_binding_1, 1 hit |
PRINTSi | PR00406, CYTB5RDTASE PR00371, FPNCR |
SUPFAMi | SSF52343, SSF52343, 1 hit SSF63380, SSF63380, 1 hit |
PROSITEi | View protein in PROSITE PS51384, FAD_FR, 1 hit |
ProtoNeti | Search... |
MobiDBi | Search... |
Entry informationi
Entry namei | NB5R1_HUMAN | |
Accessioni | Q9UHQ9Primary (citable) accession number: Q9UHQ9 Secondary accession number(s): A0PK21 Q9UHJ1 | |
Entry historyi | Integrated into UniProtKB/Swiss-Prot: | May 15, 2007 |
Last sequence update: | May 1, 2000 | |
Last modified: | December 2, 2020 | |
This is version 157 of the entry and version 1 of the sequence. See complete history. | ||
Entry statusi | Reviewed (UniProtKB/Swiss-Prot) | |
Annotation program | Chordata Protein Annotation Program | |
Disclaimer | Any 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. |
Miscellaneousi
Keywords - Technical termi
Direct protein sequencing, Reference proteomeDocuments
- Human polymorphisms and disease mutations
Index of human polymorphisms and disease mutations - MIM cross-references
Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot - SIMILARITY comments
Index of protein domains and families - Human chromosome 1
Human chromosome 1: entries, gene names and cross-references to MIM - Human entries with polymorphisms or disease mutations
List of human entries with polymorphisms or disease mutations