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Protein

NADH-cytochrome b5 reductase 1

Gene

CYB5R1

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -Experimental evidence at protein leveli

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

NADH + 2 ferricytochrome b5 = NAD+ + H+ + 2 ferrocytochrome b5.

Cofactori

FADBy similarity

Regions

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Nucleotide bindingi136 – 166FADBy similarityAdd BLAST31
Nucleotide bindingi175 – 210FADBy similarityAdd BLAST36

GO - Molecular functioni

GO - Biological processi

Keywordsi

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

Enzyme and pathway databases

ReactomeiR-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
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 1

Organism-specific databases

EuPathDBiHostDB:ENSG00000159348.12
HGNCiHGNC:13397 CYB5R1
MIMi608341 gene
neXtProtiNX_Q9UHQ9

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

Topology

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Transmembranei8 – 28HelicalSequence analysisAdd BLAST21

Keywords - Cellular componenti

Membrane

Pathology & Biotechi

Organism-specific databases

DisGeNETi51706
OpenTargetsiENSG00000159348
PharmGKBiPA134979668

Chemistry databases

DrugBankiDB03147 Flavin adenine dinucleotide

Polymorphism and mutation databases

BioMutaiCYB5R1
DMDMi74761957

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00002875451 – 305NADH-cytochrome b5 reductase 1Add BLAST305

Proteomic databases

EPDiQ9UHQ9
MaxQBiQ9UHQ9
PaxDbiQ9UHQ9
PeptideAtlasiQ9UHQ9
PRIDEiQ9UHQ9

PTM databases

CarbonylDBiQ9UHQ9
iPTMnetiQ9UHQ9
PhosphoSitePlusiQ9UHQ9

Expressioni

Tissue specificityi

Widely expressed.1 Publication

Gene expression databases

BgeeiENSG00000159348
CleanExiHS_CYB5R1
ExpressionAtlasiQ9UHQ9 baseline and differential
GenevisibleiQ9UHQ9 HS

Organism-specific databases

HPAiHPA010641
HPA014147

Interactioni

Binary interactionsi

Show more details

Protein-protein interaction databases

BioGridi119690, 28 interactors
IntActiQ9UHQ9, 8 interactors
STRINGi9606.ENSP00000356218

Structurei

3D structure databases

ProteinModelPortaliQ9UHQ9
SMRiQ9UHQ9
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Domaini44 – 156FAD-binding FR-typePROSITE-ProRule annotationAdd BLAST113

Sequence similaritiesi

Keywords - Domaini

Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiKOG0534 Eukaryota
COG0543 LUCA
GeneTreeiENSGT00390000008881
HOVERGENiHBG052580
InParanoidiQ9UHQ9
KOiK00326
OMAiPTAHHVL
OrthoDBiEOG091G0EIS
PhylomeDBiQ9UHQ9
TreeFamiTF314333

Family and domain databases

InterProiView protein in InterPro
IPR017927 Fd_Rdtase_FAD-bd
IPR001709 Flavoprot_Pyr_Nucl_cyt_Rdtase
IPR001834 NADH-Cyt_B5_reductase
IPR008333 OxRdtase_FAD-bd_dom
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
SUPFAMiSSF63380 SSF63380, 1 hit
PROSITEiView protein in PROSITE
PS51384 FAD_FR, 1 hit

Sequencei

Sequence statusi: Complete.

Q9UHQ9-1 [UniParc]FASTAAdd to basket

« Hide

        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
Length:305
Mass (Da):34,095
Last modified:May 1, 2000 - v1
Checksum:iDC9DAFEC619F9317
GO

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 keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti82H → R in BAD97136 (Ref. 7) Curated1
Sequence conflicti92S → N in AAF06147 (PubMed:10611283).Curated1
Sequence conflicti142D → H in AAF06147 (PubMed:10611283).Curated1
Sequence conflicti212F → S in BAC11115 (PubMed:16303743).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_03232044N → 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.
CCDSiCCDS1431.1
RefSeqiNP_057327.2, NM_016243.2
UniGeneiHs.334832

Genome annotation databases

EnsembliENST00000367249; ENSP00000356218; ENSG00000159348
GeneIDi51706
KEGGihsa:51706
UCSCiuc001gyt.3 human

Keywords - Coding sequence diversityi

Polymorphism

Similar proteinsi

Entry informationi

Entry nameiNB5R1_HUMAN
AccessioniPrimary (citable) accession number: Q9UHQ9
Secondary accession number(s): A0PK21
, B2R8E0, O95329, Q53F73, Q8NCL5, Q9UHJ1
Entry historyiIntegrated into UniProtKB/Swiss-Prot: May 15, 2007
Last sequence update: May 1, 2000
Last modified: March 28, 2018
This is version 138 of the entry and version 1 of the sequence. See complete history.
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.

Miscellaneousi

Keywords - Technical termi

Complete proteome, Direct protein sequencing, Reference proteome
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Main funding by: National Institutes of Health