Details for: CYB5R1

Gene ID: 51706

Symbol: CYB5R1

Ensembl ID: ENSG00000159348

Description: cytochrome b5 reductase 1

Associated with

Cells (max top 100)

(Cell Significance Index and respective Thresholds are uniquely calculated using our advanced thresholding algorithms to reveal cell-specific gene markers)

  • Cell Name: polychromatophilic erythroblast (CL0000550)
    Fold Change: 143.2381
    Cell Significance Index: -22.2800
  • Cell Name: hematopoietic oligopotent progenitor cell (CL0002032)
    Fold Change: 86.6965
    Cell Significance Index: -21.9900
  • Cell Name: smooth muscle fiber of ileum (CL1000278)
    Fold Change: 54.8586
    Cell Significance Index: -25.9000
  • Cell Name: peripheral blood mononuclear cell (CL2000001)
    Fold Change: 47.9990
    Cell Significance Index: -24.6900
  • Cell Name: orthochromatic erythroblast (CL0000552)
    Fold Change: 19.6439
    Cell Significance Index: -24.2200
  • Cell Name: CD8-alpha-beta-positive, alpha-beta intraepithelial T cell (CL0000796)
    Fold Change: 7.7440
    Cell Significance Index: -20.7500
  • Cell Name: stromal cell of bone marrow (CL0010001)
    Fold Change: 6.5052
    Cell Significance Index: -25.6700
  • Cell Name: CD8-positive, alpha-beta regulatory T cell (CL0000795)
    Fold Change: 5.6227
    Cell Significance Index: -17.2700
  • Cell Name: placental villous trophoblast (CL2000060)
    Fold Change: 4.6731
    Cell Significance Index: 124.7800
  • Cell Name: type I muscle cell (CL0002211)
    Fold Change: 4.6018
    Cell Significance Index: 112.2800
  • Cell Name: epidermal Langerhans cell (CL0002457)
    Fold Change: 4.0665
    Cell Significance Index: -8.9000
  • Cell Name: stem cell of epidermis (CL1000428)
    Fold Change: 2.8093
    Cell Significance Index: 8.3600
  • Cell Name: bladder urothelial cell (CL1001428)
    Fold Change: 2.2324
    Cell Significance Index: 115.9700
  • Cell Name: umbrella cell of urothelium (CL4030056)
    Fold Change: 1.9015
    Cell Significance Index: 17.5100
  • Cell Name: epithelial cell of stomach (CL0002178)
    Fold Change: 1.8471
    Cell Significance Index: 215.2600
  • Cell Name: epidermal cell (CL0000362)
    Fold Change: 1.7432
    Cell Significance Index: 3.9300
  • Cell Name: acinar cell of salivary gland (CL0002623)
    Fold Change: 1.1011
    Cell Significance Index: 51.3400
  • Cell Name: tuft cell of colon (CL0009041)
    Fold Change: 1.0474
    Cell Significance Index: 945.7500
  • Cell Name: intermediate cell of urothelium (CL4030055)
    Fold Change: 1.0284
    Cell Significance Index: 185.3900
  • Cell Name: microcirculation associated smooth muscle cell (CL0008035)
    Fold Change: 1.0012
    Cell Significance Index: 8.4100
  • Cell Name: sebum secreting cell (CL0000317)
    Fold Change: 0.9898
    Cell Significance Index: 70.0000
  • Cell Name: basal cell of urothelium (CL1000486)
    Fold Change: 0.9229
    Cell Significance Index: 113.4800
  • Cell Name: progenitor cell of mammary luminal epithelium (CL0009116)
    Fold Change: 0.9169
    Cell Significance Index: 68.3400
  • Cell Name: luminal hormone-sensing cell of mammary gland (CL4033058)
    Fold Change: 0.8929
    Cell Significance Index: 5.5000
  • Cell Name: intestinal crypt stem cell of small intestine (CL0009017)
    Fold Change: 0.8604
    Cell Significance Index: 18.3300
  • Cell Name: cortical cell of adrenal gland (CL0002097)
    Fold Change: 0.7915
    Cell Significance Index: 21.2100
  • Cell Name: intestinal crypt stem cell of colon (CL0009043)
    Fold Change: 0.7297
    Cell Significance Index: 79.3700
  • Cell Name: basal cell of prostate epithelium (CL0002341)
    Fold Change: 0.7274
    Cell Significance Index: 19.8000
  • Cell Name: hair follicular keratinocyte (CL2000092)
    Fold Change: 0.7110
    Cell Significance Index: 314.3700
  • Cell Name: gut absorptive cell (CL0000677)
    Fold Change: 0.7013
    Cell Significance Index: 42.1100
  • Cell Name: epithelial cell of small intestine (CL0002254)
    Fold Change: 0.6584
    Cell Significance Index: 107.0900
  • Cell Name: cell in vitro (CL0001034)
    Fold Change: 0.6557
    Cell Significance Index: 358.0700
  • Cell Name: odontoblast (CL0000060)
    Fold Change: 0.6260
    Cell Significance Index: 80.2500
  • Cell Name: eye photoreceptor cell (CL0000287)
    Fold Change: 0.5955
    Cell Significance Index: 37.5300
  • Cell Name: stromal cell of ovary (CL0002132)
    Fold Change: 0.5002
    Cell Significance Index: 68.6900
  • Cell Name: colon goblet cell (CL0009039)
    Fold Change: 0.4618
    Cell Significance Index: 45.6800
  • Cell Name: type II muscle cell (CL0002212)
    Fold Change: 0.4276
    Cell Significance Index: 6.9000
  • Cell Name: cardiac muscle myoblast (CL0000513)
    Fold Change: 0.3812
    Cell Significance Index: 29.2600
  • Cell Name: microfold cell of epithelium of small intestine (CL1000353)
    Fold Change: 0.3635
    Cell Significance Index: 25.1400
  • Cell Name: basal epithelial cell of tracheobronchial tree (CL0002329)
    Fold Change: 0.3347
    Cell Significance Index: 9.3600
  • Cell Name: luminal adaptive secretory precursor cell of mammary gland (CL4033057)
    Fold Change: 0.3195
    Cell Significance Index: 15.0200
  • Cell Name: extravillous trophoblast (CL0008036)
    Fold Change: 0.2478
    Cell Significance Index: 1.5400
  • Cell Name: enterocyte of epithelium of large intestine (CL0002071)
    Fold Change: 0.2310
    Cell Significance Index: 10.4700
  • Cell Name: L2/3-6 intratelencephalic projecting glutamatergic neuron (CL4023040)
    Fold Change: 0.2206
    Cell Significance Index: 44.2500
  • Cell Name: lactocyte (CL0002325)
    Fold Change: 0.2044
    Cell Significance Index: 26.4100
  • Cell Name: skeletal muscle fiber (CL0008002)
    Fold Change: 0.1762
    Cell Significance Index: 4.5300
  • Cell Name: endothelial cell of venule (CL1000414)
    Fold Change: 0.1540
    Cell Significance Index: 1.7500
  • Cell Name: neoplastic cell (CL0001063)
    Fold Change: 0.1519
    Cell Significance Index: 30.1500
  • Cell Name: enteroendocrine cell of colon (CL0009042)
    Fold Change: 0.1487
    Cell Significance Index: 28.2900
  • Cell Name: retinal rod cell (CL0000604)
    Fold Change: 0.1283
    Cell Significance Index: 1.5300
  • Cell Name: paneth cell of epithelium of small intestine (CL1000343)
    Fold Change: 0.1149
    Cell Significance Index: 2.4900
  • Cell Name: obsolete caudal ganglionic eminence derived GABAergic cortical interneuron (CL4023070)
    Fold Change: 0.1128
    Cell Significance Index: 40.4800
  • Cell Name: early pro-B cell (CL0002046)
    Fold Change: 0.1081
    Cell Significance Index: 6.9800
  • Cell Name: glycinergic neuron (CL1001509)
    Fold Change: 0.0928
    Cell Significance Index: 4.8700
  • Cell Name: enterocyte of epithelium of small intestine (CL1000334)
    Fold Change: 0.0396
    Cell Significance Index: 1.1400
  • Cell Name: pulmonary alveolar epithelial cell (CL0000322)
    Fold Change: 0.0247
    Cell Significance Index: 18.6700
  • Cell Name: GABAergic interneuron (CL0011005)
    Fold Change: 0.0124
    Cell Significance Index: 8.5700
  • Cell Name: kidney loop of Henle cortical thick ascending limb epithelial cell (CL1001109)
    Fold Change: 0.0119
    Cell Significance Index: 8.7000
  • Cell Name: tonsil germinal center B cell (CL2000006)
    Fold Change: 0.0065
    Cell Significance Index: 0.7700
  • Cell Name: pancreatic acinar cell (CL0002064)
    Fold Change: 0.0052
    Cell Significance Index: 0.8800
  • Cell Name: pigmented epithelial cell (CL0000529)
    Fold Change: 0.0045
    Cell Significance Index: 8.5000
  • Cell Name: anterior lens cell (CL0002223)
    Fold Change: -0.0070
    Cell Significance Index: -12.9500
  • Cell Name: lens epithelial cell (CL0002224)
    Fold Change: -0.0115
    Cell Significance Index: -17.6300
  • Cell Name: abnormal cell (CL0001061)
    Fold Change: -0.0143
    Cell Significance Index: -1.4600
  • Cell Name: non-pigmented ciliary epithelial cell (CL0002304)
    Fold Change: -0.0150
    Cell Significance Index: -9.5500
  • Cell Name: secondary lens fiber (CL0002225)
    Fold Change: -0.0175
    Cell Significance Index: -23.7400
  • Cell Name: pancreatic A cell (CL0000171)
    Fold Change: -0.0276
    Cell Significance Index: -20.4500
  • Cell Name: ciliary muscle cell (CL1000443)
    Fold Change: -0.0350
    Cell Significance Index: -15.8800
  • Cell Name: type B pancreatic cell (CL0000169)
    Fold Change: -0.0361
    Cell Significance Index: -20.3600
  • Cell Name: pancreatic PP cell (CL0002275)
    Fold Change: -0.0448
    Cell Significance Index: -27.9900
  • Cell Name: cardiac muscle cell (CL0000746)
    Fold Change: -0.0454
    Cell Significance Index: -0.6700
  • Cell Name: dopaminergic neuron (CL0000700)
    Fold Change: -0.0606
    Cell Significance Index: -17.4300
  • Cell Name: small intestine goblet cell (CL1000495)
    Fold Change: -0.0657
    Cell Significance Index: -2.3100
  • Cell Name: pigmented ciliary epithelial cell (CL0002303)
    Fold Change: -0.1108
    Cell Significance Index: -16.1100
  • Cell Name: pancreatic D cell (CL0000173)
    Fold Change: -0.1264
    Cell Significance Index: -26.6200
  • Cell Name: mesenchymal cell (CL0008019)
    Fold Change: -0.1359
    Cell Significance Index: -2.2800
  • Cell Name: pancreatic ductal cell (CL0002079)
    Fold Change: -0.1624
    Cell Significance Index: -18.6000
  • Cell Name: conjunctival epithelial cell (CL1000432)
    Fold Change: -0.1715
    Cell Significance Index: -2.3400
  • Cell Name: transit amplifying cell of colon (CL0009011)
    Fold Change: -0.1839
    Cell Significance Index: -5.8900
  • Cell Name: peg cell (CL4033014)
    Fold Change: -0.1853
    Cell Significance Index: -4.2800
  • Cell Name: mesonephric nephron tubule epithelial cell (CL1000022)
    Fold Change: -0.1911
    Cell Significance Index: -6.6400
  • Cell Name: syncytiotrophoblast cell (CL0000525)
    Fold Change: -0.1990
    Cell Significance Index: -1.8900
  • Cell Name: forebrain neuroblast (CL1000042)
    Fold Change: -0.2113
    Cell Significance Index: -12.9900
  • Cell Name: smooth muscle cell of sphincter of pupil (CL0002243)
    Fold Change: -0.2364
    Cell Significance Index: -24.6200
  • Cell Name: hippocampal granule cell (CL0001033)
    Fold Change: -0.2449
    Cell Significance Index: -16.4700
  • Cell Name: neutrophil progenitor cell (CL0000834)
    Fold Change: -0.2469
    Cell Significance Index: -6.6100
  • Cell Name: CD4-positive, alpha-beta memory T cell, CD45RO-positive (CL0001204)
    Fold Change: -0.2600
    Cell Significance Index: -7.6400
  • Cell Name: retinal progenitor cell (CL0002672)
    Fold Change: -0.2778
    Cell Significance Index: -15.5900
  • Cell Name: kidney loop of Henle descending limb epithelial cell (CL1001021)
    Fold Change: -0.2813
    Cell Significance Index: -22.2800
  • Cell Name: pro-T cell (CL0000827)
    Fold Change: -0.3087
    Cell Significance Index: -7.8900
  • Cell Name: fibroblast of mammary gland (CL0002555)
    Fold Change: -0.3115
    Cell Significance Index: -8.9300
  • Cell Name: vascular lymphangioblast (CL0005022)
    Fold Change: -0.3243
    Cell Significance Index: -5.7300
  • Cell Name: granulosa cell (CL0000501)
    Fold Change: -0.3339
    Cell Significance Index: -8.7800
  • Cell Name: intestinal tuft cell (CL0019032)
    Fold Change: -0.3412
    Cell Significance Index: -20.9200
  • Cell Name: CD14-positive, CD16-negative classical monocyte (CL0002057)
    Fold Change: -0.3732
    Cell Significance Index: -6.9000
  • Cell Name: kidney epithelial cell (CL0002518)
    Fold Change: -0.4037
    Cell Significance Index: -11.8900
  • Cell Name: indirect pathway medium spiny neuron (CL4023029)
    Fold Change: -0.4135
    Cell Significance Index: -18.2900
  • Cell Name: thyroid follicular cell (CL0002258)
    Fold Change: -0.4508
    Cell Significance Index: -4.7900
  • Cell Name: keratocyte (CL0002363)
    Fold Change: -0.4545
    Cell Significance Index: -7.2100
  • Cell Name: stratified epithelial cell (CL0000079)
    Fold Change: -0.4894
    Cell Significance Index: -17.9700

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this specific cell.

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this cell type. Calculated using techniques like effect size estimation and bootstrapping for reliability.

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this cell type. Calculated using techniques like effect size estimation and bootstrapping for reliability.

Other Information

**Key Characteristics** The CYB5R1 gene is characterized by its high expression levels in hematopoietic cells, where it plays a crucial role in erythropoiesis and platelet activation. The gene is also expressed in smooth muscle fibers and placental trophoblasts, where it is involved in the regulation of ion transport and cellular signaling. CYB5R1 is a multifunctional gene that interacts with various proteins and pathways, including those involved in hemostasis, platelet activation, and sterol biosynthesis. **Pathways and Functions** CYB5R1 is involved in several cellular pathways, including: 1. **Bicarbonate transport**: CYB5R1 plays a crucial role in the transport of bicarbonate across the plasma membrane, which is essential for maintaining acid-base balance in the body. 2. **Cytochrome-b5 reductase activity**: CYB5R1 is involved in the transfer of electrons from NADH to cytochrome b5, which is essential for the functioning of the electron transport chain. 3. **Hemostasis**: CYB5R1 is involved in the regulation of platelet activation and aggregation, which is essential for maintaining blood clotting. 4. **Sterol biosynthesis**: CYB5R1 is involved in the regulation of sterol biosynthesis, which is essential for maintaining cholesterol homeostasis in the body. **Clinical Significance** CYB5R1 has been implicated in various disease contexts, including: 1. **Thrombocytopenia**: CYB5R1 mutations have been associated with thrombocytopenia, a bleeding disorder characterized by low platelet counts. 2. **Anemia**: CYB5R1 mutations have also been associated with anemia, a condition characterized by low red blood cell counts. 3. **Platelet dysfunction**: CYB5R1 mutations have been associated with platelet dysfunction, which can increase the risk of bleeding. 4. **Cancer**: CYB5R1 has been implicated in the regulation of cancer cell growth and survival, and its expression has been altered in various types of cancer. In conclusion, CYB5R1 is a multifunctional gene that plays a crucial role in various cellular processes, including hemostasis, platelet activation, and sterol biosynthesis. Its clinical significance has been implicated in various disease contexts, including thrombocytopenia, anemia, platelet dysfunction, and cancer. Further research is needed to fully understand the molecular mechanisms of CYB5R1 and its role in human disease.

Genular Protein ID: 2859433052

Symbol: NB5R1_HUMAN

Name: NADH-cytochrome b5 reductase 1

UniProtKB Accession Codes:

Q9UHQ9 A0PK21 B2R8E0 O95329 Q53F73 Q8NCL5 Q9UHJ1

Database IDs:

AGR 1 AlphaFoldDB 1 Antibodypedia 1 Bgee 1 BioGRID 1 BioGRID-ORCS 1 BioMuta 1 CCDS 1 CDD 1 CTD 1 CarbonylDB 1 ChEBI 8 ChiTaRS 1 DMDM 1 DNASU 1 DisGeNET 1 DrugBank 1 EC 2 EMBL 12 Ensembl 1 ExpressionAtlas 1 GO 11 Gene3D 2 GeneCards 1 GeneTree 1 GeneWiki 1 GenomeRNAi 1 GlyGen 1 HGNC 1 HOGENOM 1 HPA 1 InParanoid 1 IntAct 1 InterPro 7 KEGG 1 MANE-Select 1 MIM 1 MINT 1 MassIVE 1 NCBI Taxonomy 1 OMA 1 OpenTargets 1 OrthoDB 1 PANTHER 2 PRINTS 2 PRO 1 PROSITE 1 PathwayCommons 1 PaxDb 1 PeptideAtlas 1 Pfam 2 PharmGKB 1 Pharos 1 PhosphoSitePlus 1 PhylomeDB 1 Proteomes 1 ProteomicsDB 1 Pumba 1 RNAct 1 Reactome 2 RefSeq 1 Rhea 3 SMR 1 STRING 1 SUPFAM 2 SignaLink 1 SwissPalm 1 TreeFam 1 UCSC 1 VEuPathDB 1 eggNOG 1 iPTMnet 1 jPOST 1 neXtProt 1

Citations:

PubMed ID: 10611283

Title: Identification of a cytochrome b-type NAD(P)H oxidoreductase ubiquitously expressed in human cells.

PubMed ID: 10611283

DOI: 10.1073/pnas.96.26.14742

PubMed ID: 12975309

Title: The secreted protein discovery initiative (SPDI), a large-scale effort to identify novel human secreted and transmembrane proteins: a bioinformatics assessment.

PubMed ID: 12975309

DOI: 10.1101/gr.1293003

PubMed ID: 14702039

Title: Complete sequencing and characterization of 21,243 full-length human cDNAs.

PubMed ID: 14702039

DOI: 10.1038/ng1285

PubMed ID: 16303743

Title: Signal sequence and keyword trap in silico for selection of full-length human cDNAs encoding secretion or membrane proteins from oligo-capped cDNA libraries.

PubMed ID: 16303743

DOI: 10.1093/dnares/12.2.117

PubMed ID: 15489334

Title: The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).

PubMed ID: 15489334

DOI: 10.1101/gr.2596504

PubMed ID: 21269460

Title: Initial characterization of the human central proteome.

PubMed ID: 21269460

DOI: 10.1186/1752-0509-5-17

PubMed ID: 25944712

Title: N-terminome analysis of the human mitochondrial proteome.

PubMed ID: 25944712

DOI: 10.1002/pmic.201400617

Sequence Information:

  • Length: 305
  • Mass: 34095
  • Checksum: DC9DAFEC619F9317
  • Sequence:
    • MGIQTSPVLL ASLGVGLVTL LGLAVGSYLV RRSRRPQVTL LDPNEKYLLR LLDKTTVSHN 
TKRFRFALPT AHHTLGLPVG KHIYLSTRID GSLVIRPYTP VTSDEDQGYV DLVIKVYLKG 
VHPKFPEGGK MSQYLDSLKV GDVVEFRGPS GLLTYTGKGH FNIQPNKKSP PEPRVAKKLG 
MIAGGTGITP MLQLIRAILK VPEDPTQCFL LFANQTEKDI ILREDLEELQ ARYPNRFKLW 
FTLDHPPKDW AYSKGFVTAD MIREHLPAPG DDVLVLLCGP PPMVQLACHP NLDKLGYSQK 
MRFTY

Database document:

This is a preview of the gene's schema. Only a few entries are kept for 'singleCellExpressions,' 'mRNAExpressions,' and other large data arrays for visualization purposes. You can zoom in with the mouse wheel for a closer view, and the text will adjust automatically if necessary. For the full schema, download it here.