Human Gene CYB5R1 (ENST00000367249.9_7) from GENCODE V47lift37
  Description: cytochrome b5 reductase 1 (from RefSeq NM_016243.3)
Gencode Transcript: ENST00000367249.9_7
Gencode Gene: ENSG00000159348.13_11
Transcript (Including UTRs)
   Position: hg19 chr1:202,931,001-202,936,385 Size: 5,385 Total Exon Count: 9 Strand: -
Coding Region
   Position: hg19 chr1:202,931,655-202,936,333 Size: 4,679 Coding Exon Count: 9 

Page IndexSequence and LinksUniProtKB CommentsPrimersCTDGene Alleles
RNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther SpeciesGO Annotations
mRNA DescriptionsPathwaysOther NamesModel InformationMethods
Data last updated at UCSC: 2024-08-22 23:36:26

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr1:202,931,001-202,936,385)mRNA (may differ from genome)Protein (305 aa)
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BioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: NB5R1_HUMAN
DESCRIPTION: RecName: Full=NADH-cytochrome b5 reductase 1; Short=b5R.1; EC=1.6.2.2; AltName: Full=Humb5R2; AltName: Full=NAD(P)H:quinone oxidoreductase type 3 polypeptide A2;
FUNCTION: 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 ACTIVITY: NADH + 2 ferricytochrome b5 = NAD(+) + H(+) + 2 ferrocytochrome b5.
COFACTOR: FAD (By similarity).
SUBCELLULAR LOCATION: Membrane; Single-pass membrane protein (Potential).
TISSUE SPECIFICITY: Widely expressed.
SIMILARITY: Belongs to the flavoprotein pyridine nucleotide cytochrome reductase family.
SIMILARITY: Contains 1 FAD-binding FR-type domain.
SEQUENCE CAUTION: Sequence=AAC72953.1; Type=Erroneous initiation; Sequence=AAI27946.1; Type=Erroneous initiation;

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene

+  Common Gene Haplotype Alleles
  Press "+" in the title bar above to open this section.

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 81.69 RPKM in Muscle - Skeletal
Total median expression: 801.93 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
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-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -9.4052-0.181 Picture PostScript Text
3' UTR -208.60654-0.319 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
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

Pfam Domains:
PF00175 - Oxidoreductase NAD-binding domain
PF00970 - Oxidoreductase FAD-binding domain

SCOP Domains:
63380 - Riboflavin synthase domain-like
52343 - Ferredoxin reductase-like, C-terminal NADP-linked domain

ModBase Predicted Comparative 3D Structure on Q9UHQ9
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The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologNo orthologNo orthologNo orthologNo orthologGenome Browser
Gene DetailsGene Details   Gene Details
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     Protein Sequence
     Alignment

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0004128 cytochrome-b5 reductase activity, acting on NAD(P)H
GO:0005515 protein binding
GO:0016491 oxidoreductase activity

Biological Process:
GO:0002576 platelet degranulation
GO:0006629 lipid metabolic process
GO:0006694 steroid biosynthetic process
GO:0008202 steroid metabolic process
GO:0015701 bicarbonate transport
GO:0016126 sterol biosynthetic process
GO:0055114 oxidation-reduction process

Cellular Component:
GO:0005739 mitochondrion
GO:0005789 endoplasmic reticulum membrane
GO:0005886 plasma membrane
GO:0016020 membrane
GO:0016021 integral component of membrane
GO:0031092 platelet alpha granule membrane
GO:0070062 extracellular exosome


-  Descriptions from all associated GenBank mRNAs
  AF093822 - Homo sapiens NADH-cytochrome-b5 reductase mRNA, complete cds.
AF087912 - Homo sapiens NADH cytochrome b5 reductase mRNA, complete cds.
AF091084 - Homo sapiens clone 638 unknown mRNA, complete sequence.
AF169481 - Homo sapiens cytochrome b5 reductase 1 (B5R.1) mRNA, complete cds.
BC018732 - Homo sapiens cytochrome b5 reductase 1, mRNA (cDNA clone MGC:31847 IMAGE:4638088), complete cds.
AF125533 - Homo sapiens NADH-cytochrome b5 reductase isoform mRNA, complete cds.
BC000034 - Homo sapiens cDNA clone IMAGE:3506589, containing frame-shift errors.
AK223416 - Homo sapiens mRNA for NAD(P)H:quinone oxidoreductase type 3, polypeptide A2 variant, clone: FCC109G03.
AY359026 - Homo sapiens clone DNA125154 GIQT3049 (UNQ3049) mRNA, complete cds.
AK123705 - Homo sapiens cDNA FLJ41711 fis, clone HLUNG2011298, moderately similar to Homo sapiens cytochrome b5 reductase 1 (B5R.1) mRNA.
AK075304 - Homo sapiens cDNA FLJ90823 fis, clone Y79AA1001427, highly similar to Homo sapiens cytochrome b5 reductase 1 (B5R.1) mRNA.
AK074654 - Homo sapiens cDNA FLJ90173 fis, clone MAMMA1000457, highly similar to Cytochrome b5 reductase 1.
JD414314 - Sequence 395338 from Patent EP1572962.
JD549089 - Sequence 530113 from Patent EP1572962.
JD305261 - Sequence 286285 from Patent EP1572962.
JD180379 - Sequence 161403 from Patent EP1572962.
JD561740 - Sequence 542764 from Patent EP1572962.
JD022101 - Sequence 3125 from Patent EP1572962.
JD554381 - Sequence 535405 from Patent EP1572962.
JD153890 - Sequence 134914 from Patent EP1572962.
JD228867 - Sequence 209891 from Patent EP1572962.
JD205585 - Sequence 186609 from Patent EP1572962.
BC127945 - Homo sapiens cytochrome b5 reductase 1, mRNA (cDNA clone MGC:158098 IMAGE:40132732), complete cds.
JD187797 - Sequence 168821 from Patent EP1572962.
JD287360 - Sequence 268384 from Patent EP1572962.
AK313333 - Homo sapiens cDNA, FLJ93855, highly similar to Homo sapiens cytochrome b5 reductase 1 (B5R.1) (CYB5R1), mRNA.
CU676296 - Synthetic construct Homo sapiens gateway clone IMAGE:100018099 5' read CYB5R1 mRNA.
HQ447176 - Synthetic construct Homo sapiens clone IMAGE:100070468; CCSB007904_01 cytochrome b5 reductase 1 (CYB5R1) gene, encodes complete protein.
KJ893975 - Synthetic construct Homo sapiens clone ccsbBroadEn_03369 CYB5R1 gene, encodes complete protein.
AB529197 - Synthetic construct DNA, clone: pF1KB5370, Homo sapiens CYB5R1 gene for cytochrome b5 reductase 1, without stop codon, in Flexi system.
AK295902 - Homo sapiens cDNA FLJ57732 complete cds, moderately similar to Homo sapiens cytochrome b5 reductase 1 (CYB5R1), mRNA.
AK027319 - Homo sapiens cDNA FLJ14413 fis, clone HEMBA1004670.

-  Biochemical and Signaling Pathways
  Reactome (by CSHL, EBI, and GO)

Protein Q9UHQ9 (Reactome details) participates in the following event(s):

R-HSA-481044 Surface deployment of platelet alpha granule membrane components
R-HSA-6806831 CYB5Rs reduce MetHb to HbA
R-HSA-114608 Platelet degranulation
R-HSA-1237044 Erythrocytes take up carbon dioxide and release oxygen
R-HSA-76005 Response to elevated platelet cytosolic Ca2+
R-HSA-1480926 O2/CO2 exchange in erythrocytes
R-HSA-76002 Platelet activation, signaling and aggregation
R-HSA-382551 Transport of small molecules
R-HSA-109582 Hemostasis

-  Other Names for This Gene
  Alternate Gene Symbols: A0PK21, B2R8E0, ENST00000367249.1, ENST00000367249.2, ENST00000367249.3, ENST00000367249.4, ENST00000367249.5, ENST00000367249.6, ENST00000367249.7, ENST00000367249.8, NB5R1_HUMAN, NM_016243, NQO3A2, O95329, Q53F73, Q8NCL5, Q9UHJ1, Q9UHQ9, uc318ftn.1, uc318ftn.2, UNQ3049/PRO9865
UCSC ID: ENST00000367249.9_7
RefSeq Accession: NM_016243.3
Protein: Q9UHQ9 (aka NB5R1_HUMAN)

-  Gene Model Information
  Click here for a detailed description of the fields of the table above.

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.