Gene CYB5A - ENSG00000166347 | NCBI Gene ID: 1528

Details for: CYB5A

Gene ID: 1528

Symbol: CYB5A

Ensembl ID: ENSG00000166347

Description: cytochrome b5 type A

Associated with

Insertion of tail-anchored proteins into the endoplasmic reticulum membrane
(R-HSA-9609523)
Metabolism
(R-HSA-1430728)
Metabolism of vitamins and cofactors
(R-HSA-196854)
Metabolism of water-soluble vitamins and cofactors
(R-HSA-196849)
Protein localization
(R-HSA-9609507)
Vitamin c (ascorbate) metabolism
(R-HSA-196836)
Cytochrome-c oxidase activity
(GO:0004129)
Cytosol
(GO:0005829)
Electron transport chain
(GO:0022900)
Endoplasmic reticulum membrane
(GO:0005789)
Enzyme binding
(GO:0019899)
Heme binding
(GO:0020037)
Intracellular membrane-bounded organelle
(GO:0043231)
Membrane
(GO:0016020)
Metal ion binding
(GO:0046872)
Mitochondrial outer membrane
(GO:0005741)
Protein binding
(GO:0005515)
Proton transmembrane transport
(GO:1902600)

Cells (max top 100)

(Marker Score score is uniquely calculated using our advanced thresholding algorithms to reveal cell-specific gene markers)

Cell Name: pancreatic acinar cell (CL0002064)
Fold Change: 5.25
Marker Score: 11087
Cell Name: epithelial cell of lung (CL0000082)
Fold Change: 4.19
Marker Score: 22000
Cell Name: epithelial cell of proximal tubule (CL0002306)
Fold Change: 4.05
Marker Score: 14368
Cell Name: kidney collecting duct principal cell (CL1001431)
Fold Change: 3.79
Marker Score: 9551
Cell Name: type II pneumocyte (CL0002063)
Fold Change: 3.71
Marker Score: 24154
Cell Name: secretory cell (CL0000151)
Fold Change: 3.63
Marker Score: 6617
Cell Name: kidney loop of Henle thick ascending limb epithelial cell (CL1001106)
Fold Change: 3.46
Marker Score: 9279
Cell Name: type I pneumocyte (CL0002062)
Fold Change: 3.46
Marker Score: 4169
Cell Name: epithelial cell of exocrine pancreas (CL1001433)
Fold Change: 3.39
Marker Score: 1910
Cell Name: alveolar capillary type 2 endothelial cell (CL4028003)
Fold Change: 3.28
Marker Score: 4743
Cell Name: pneumocyte (CL0000322)
Fold Change: 3.16
Marker Score: 5085
Cell Name: ciliated columnar cell of tracheobronchial tree (CL0002145)
Fold Change: 3.08
Marker Score: 26777
Cell Name: alveolar capillary type 1 endothelial cell (CL4028002)
Fold Change: 3.08
Marker Score: 7833
Cell Name: epithelial cell (CL0000066)
Fold Change: 2.96
Marker Score: 4713
Cell Name: enterocyte (CL0000584)
Fold Change: 2.93
Marker Score: 14069
Cell Name: periportal region hepatocyte (CL0019026)
Fold Change: 2.9
Marker Score: 15565
Cell Name: kidney collecting duct intercalated cell (CL1001432)
Fold Change: 2.84
Marker Score: 4709
Cell Name: lactocyte (CL0002325)
Fold Change: 2.83
Marker Score: 45431
Cell Name: kidney connecting tubule epithelial cell (CL1000768)
Fold Change: 2.8
Marker Score: 3957
Cell Name: foveolar cell of stomach (CL0002179)
Fold Change: 2.79
Marker Score: 17831
Cell Name: mucous neck cell (CL0000651)
Fold Change: 2.74
Marker Score: 6217
Cell Name: enterocyte of colon (CL1000347)
Fold Change: 2.65
Marker Score: 4076
Cell Name: kidney distal convoluted tubule epithelial cell (CL1000849)
Fold Change: 2.63
Marker Score: 2786.5
Cell Name: progenitor cell of mammary luminal epithelium (CL0009116)
Fold Change: 2.59
Marker Score: 9967
Cell Name: cell in vitro (CL0001034)
Fold Change: 2.51
Marker Score: 86795
Cell Name: bladder urothelial cell (CL1001428)
Fold Change: 2.49
Marker Score: 3662
Cell Name: club cell (CL0000158)
Fold Change: 2.4
Marker Score: 2804
Cell Name: epithelial cell of alveolus of lung (CL0010003)
Fold Change: 2.39
Marker Score: 1070
Cell Name: renal intercalated cell (CL0005010)
Fold Change: 2.38
Marker Score: 1268
Cell Name: respiratory goblet cell (CL0002370)
Fold Change: 2.37
Marker Score: 685
Cell Name: Leydig cell (CL0000178)
Fold Change: 2.36
Marker Score: 2541
Cell Name: bronchial goblet cell (CL1000312)
Fold Change: 2.36
Marker Score: 1163
Cell Name: peptic cell (CL0000155)
Fold Change: 2.32
Marker Score: 972
Cell Name: enterocyte of epithelium proper of ileum (CL1000342)
Fold Change: 2.32
Marker Score: 670
Cell Name: alveolar macrophage (CL0000583)
Fold Change: 2.31
Marker Score: 59100
Cell Name: colon epithelial cell (CL0011108)
Fold Change: 2.3
Marker Score: 7212
Cell Name: stem cell (CL0000034)
Fold Change: 2.21
Marker Score: 5254
Cell Name: lung secretory cell (CL1000272)
Fold Change: 2.2
Marker Score: 1961.5
Cell Name: respiratory epithelial cell (CL0002368)
Fold Change: 2.19
Marker Score: 1208
Cell Name: centrilobular region hepatocyte (CL0019029)
Fold Change: 2.18
Marker Score: 14026
Cell Name: midzonal region hepatocyte (CL0019028)
Fold Change: 2.18
Marker Score: 9414
Cell Name: basal cell of epithelium of trachea (CL1000348)
Fold Change: 2.13
Marker Score: 15849
Cell Name: stratified epithelial cell (CL0000079)
Fold Change: 2.12
Marker Score: 16565
Cell Name: multi-ciliated epithelial cell (CL0005012)
Fold Change: 2.09
Marker Score: 3964
Cell Name: epicardial adipocyte (CL1000309)
Fold Change: 2.08
Marker Score: 1009
Cell Name: type G enteroendocrine cell (CL0000508)
Fold Change: 2.06
Marker Score: 711
Cell Name: acinar cell (CL0000622)
Fold Change: 2.05
Marker Score: 1449
Cell Name: mammary gland epithelial cell (CL0002327)
Fold Change: 2.05
Marker Score: 728
Cell Name: keratocyte (CL0002363)
Fold Change: 2.04
Marker Score: 469
Cell Name: placental villous trophoblast (CL2000060)
Fold Change: 2.02
Marker Score: 7929
Cell Name: kidney loop of Henle thin ascending limb epithelial cell (CL1001107)
Fold Change: 2.01
Marker Score: 2043
Cell Name: kidney epithelial cell (CL0002518)
Fold Change: 2.01
Marker Score: 2126
Cell Name: Sertoli cell (CL0000216)
Fold Change: 1.99
Marker Score: 11779
Cell Name: elicited macrophage (CL0000861)
Fold Change: 1.98
Marker Score: 12042
Cell Name: keratinocyte (CL0000312)
Fold Change: 1.98
Marker Score: 1652
Cell Name: capillary endothelial cell (CL0002144)
Fold Change: 1.98
Marker Score: 2127.5
Cell Name: epithelial cell of esophagus (CL0002252)
Fold Change: 1.96
Marker Score: 16930
Cell Name: erythroid progenitor cell (CL0000038)
Fold Change: 1.94
Marker Score: 2027
Cell Name: intestine goblet cell (CL0019031)
Fold Change: 1.94
Marker Score: 1861.5
Cell Name: subcutaneous fat cell (CL0002521)
Fold Change: 1.94
Marker Score: 709
Cell Name: fibroblast of lung (CL0002553)
Fold Change: 1.92
Marker Score: 5028
Cell Name: lung ciliated cell (CL1000271)
Fold Change: 1.92
Marker Score: 909
Cell Name: pancreatic ductal cell (CL0002079)
Fold Change: 1.91
Marker Score: 1983
Cell Name: kidney collecting duct cell (CL1001225)
Fold Change: 1.9
Marker Score: 372
Cell Name: intestinal crypt stem cell (CL0002250)
Fold Change: 1.88
Marker Score: 708.5
Cell Name: kidney cell (CL1000497)
Fold Change: 1.87
Marker Score: 1245
Cell Name: luminal epithelial cell of mammary gland (CL0002326)
Fold Change: 1.83
Marker Score: 3240
Cell Name: nasal mucosa goblet cell (CL0002480)
Fold Change: 1.82
Marker Score: 1220
Cell Name: epithelial cell of nephron (CL1000449)
Fold Change: 1.82
Marker Score: 3795
Cell Name: nephron tubule epithelial cell (CL1000494)
Fold Change: 1.82
Marker Score: 426
Cell Name: proerythroblast (CL0000547)
Fold Change: 1.79
Marker Score: 1212
Cell Name: hepatoblast (CL0005026)
Fold Change: 1.78
Marker Score: 5828
Cell Name: pulmonary artery endothelial cell (CL1001568)
Fold Change: 1.75
Marker Score: 1509
Cell Name: theca cell (CL0000503)
Fold Change: 1.75
Marker Score: 1251
Cell Name: papillary tips cell (CL1000597)
Fold Change: 1.72
Marker Score: 348
Cell Name: cholangiocyte (CL1000488)
Fold Change: 1.72
Marker Score: 644.5
Cell Name: fat cell (CL0000136)
Fold Change: 1.72
Marker Score: 963
Cell Name: mucus secreting cell (CL0000319)
Fold Change: 1.72
Marker Score: 437
Cell Name: epithelial cell of lower respiratory tract (CL0002632)
Fold Change: 1.71
Marker Score: 7149
Cell Name: type EC enteroendocrine cell (CL0000577)
Fold Change: 1.71
Marker Score: 1613
Cell Name: basal cell (CL0000646)
Fold Change: 1.7
Marker Score: 2194
Cell Name: duct epithelial cell (CL0000068)
Fold Change: 1.67
Marker Score: 782
Cell Name: enteroendocrine cell (CL0000164)
Fold Change: 1.67
Marker Score: 863
Cell Name: eukaryotic cell (CL0000255)
Fold Change: 1.67
Marker Score: 858
Cell Name: ciliated cell (CL0000064)
Fold Change: 1.64
Marker Score: 5644
Cell Name: paneth cell of epithelium of small intestine (CL1000343)
Fold Change: 1.63
Marker Score: 405
Cell Name: kidney interstitial fibroblast (CL1000692)
Fold Change: 1.63
Marker Score: 3129.5
Cell Name: epithelial cell of stratum germinativum of esophagus (CL1000447)
Fold Change: 1.61
Marker Score: 389
Cell Name: endothelial cell (CL0000115)
Fold Change: 1.6
Marker Score: 1438
Cell Name: fibroblast of mammary gland (CL0002555)
Fold Change: 1.6
Marker Score: 54389
Cell Name: kidney proximal straight tubule epithelial cell (CL1000839)
Fold Change: 1.59
Marker Score: 3746
Cell Name: glandular cell of esophagus (CL0002657)
Fold Change: 1.58
Marker Score: 501
Cell Name: hepatocyte (CL0000182)
Fold Change: 1.55
Marker Score: 1059
Cell Name: kidney loop of Henle thin descending limb epithelial cell (CL1001111)
Fold Change: 1.55
Marker Score: 1668
Cell Name: lung microvascular endothelial cell (CL2000016)
Fold Change: 1.53
Marker Score: 325
Cell Name: endothelial cell of pericentral hepatic sinusoid (CL0019022)
Fold Change: 1.53
Marker Score: 1635.5
Cell Name: mesenchymal cell (CL0008019)
Fold Change: 1.52
Marker Score: 2589
Cell Name: adventitial cell (CL0002503)
Fold Change: 1.52
Marker Score: 376
Cell Name: kidney interstitial cell (CL1000500)
Fold Change: 1.51
Marker Score: 1077
Cell Name: taste receptor cell (CL0000209)
Fold Change: 1.5
Marker Score: 1298

Hover over a box to see details here...

**Key characteristics:** - Gene name: CYB5A - Ensembl ID: ENSG00000166347 - Protein product: Cytochrome b5 - Protein function: Cytochrome b5 is a protein involved in the electron transport chain, a series of protein complexes that pass electrons from one molecule to another. - Cellular location: Inner mitochondrial membrane **Pathways and functions:** - Cytochrome b5 is significantly expressed in cells that are involved in the electron transport chain, including pancreatic acinar cell, epithelial cell of lung, epithelial cell of proximal tubule, kidney collecting duct principal cell, type II pneumocyte, secretory cell, kidney loop of Henle thick ascending limb epithelial cell, type I pneumocyte, epithelial cell of exocrine pancreas, and alveolar capillary type 2 endothelial cell. **Clinical significance:** Mutations in the CYB5A gene have been linked to several human diseases, including mitochondrial disorders and cancer. These diseases are caused by mutations that disrupt the function of cytochrome b5, leading to a decrease in the efficiency of the electron transport chain and impaired ATP production. This can result in a number of symptoms, including weakness, fatigue, and muscle weakness.

Disclaimer: This summary is generated by an AI language model and may contain inaccuracies or hallucinations. However, it is cross-referenced with curated gene expression data from major biological sources. Please verify the information before use.

Cytochrome b5

Genular Protein ID: 3707054017

Symbol: CYB5_HUMAN

Name: Cytochrome b5

UniProtKB Accession Codes:

P00167 A8MV91 F8WEU4 Q6IB14

Database IDs:

Citations:

PubMed ID: 3178851

Title: The complete nucleotide sequence of human liver cytochrome b5 mRNA.

PubMed ID: 3178851

DOI: 10.1016/s0006-291x(88)80881-7

PubMed ID: 1712589

Title: The human liver and reticulocyte cytochrome b5 mRNAs are products from a single gene.

PubMed ID: 1712589

DOI: 10.1016/0006-291x(91)91776-9

PubMed ID: 7733981

Title: The isolation and characterization of the human cytochrome b5 gene.

PubMed ID: 7733981

DOI: 10.1006/bbrc.1995.1582

PubMed ID: 16177791

Title: DNA sequence and analysis of human chromosome 18.

PubMed ID: 16177791

DOI: 10.1038/nature03983

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: 4030743

Title: Amino acid sequences of cytochrome b5 from human, porcine, and bovine erythrocytes and comparison with liver microsomal cytochrome b5.

PubMed ID: 4030743

DOI: 10.1093/oxfordjournals.jbchem.a135224

PubMed ID: 4993957

Title: Amino acid sequences of tryptic peptides of cytochromes b5 from microsomes of human, monkey, porcine, and chicken liver.

PubMed ID: 4993957

DOI: 10.1016/s0021-9258(18)62368-3

PubMed ID: 5062820

Title: Cytochrome b5 from a normal human liver. Isolation and the partial amino acid sequence.

PubMed ID: 5062820

DOI: 10.1016/s0021-9258(19)45520-8

PubMed ID: 4770377

Title: Structural studies of cytochrome b5. 3. Sequential studies on human liver cytochrome b5.

PubMed ID: 4770377

PubMed ID: 2752049

Title: Structure of cytochrome b5 and its topology in the microsomal membrane.

PubMed ID: 2752049

DOI: 10.1016/0167-4838(89)90143-x

PubMed ID: 8168836

Title: A splicing mutation in the cytochrome b5 gene from a patient with congenital methemoglobinemia and pseudohermaphrodism.

PubMed ID: 8168836

DOI: 10.1007/bf00202825

PubMed ID: 20080843

Title: Isolated 17,20-lyase deficiency due to the cytochrome b5 mutation W27X.

PubMed ID: 20080843

DOI: 10.1210/jc.2008-1745

PubMed ID: 21269460

Title: Initial characterization of the human central proteome.

PubMed ID: 21269460

DOI: 10.1186/1752-0509-5-17

PubMed ID: 24275569

Title: An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome.

PubMed ID: 24275569

DOI: 10.1016/j.jprot.2013.11.014

PubMed ID: 25944712

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

PubMed ID: 25944712

DOI: 10.1002/pmic.201400617

PubMed ID: 22170710

Title: A missense mutation in the human cytochrome B5 gene causes 46,XY disorder of sex development due to true isolated 17,20 lyase deficiency.

PubMed ID: 22170710

DOI: 10.1210/jc.2011-2413

Sequence Information:

Length: 134
Mass: 15330
Checksum: B6AD2AB747555048
Sequence:

MAEQSDEAVK YYTLEEIQKH NHSKSTWLIL HHKVYDLTKF LEEHPGGEEV LREQAGGDAT 
ENFEDVGHST DAREMSKTFI IGELHPDDRP KLNKPPETLI TTIDSSSSWW TNWVIPAISA 
VAVALMYRLY MAED

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. For the full schema, download it here.

Details for: CYB5A

Associated with

Cells (max top 100)

Other Information

The complete nucleotide sequence of human liver cytochrome b5 mRNA. PubMed ID: 3178851

The human liver and reticulocyte cytochrome b5 mRNAs are products from a single gene. PubMed ID: 1712589

The isolation and characterization of the human cytochrome b5 gene. PubMed ID: 7733981

DNA sequence and analysis of human chromosome 18. PubMed ID: 16177791

The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). PubMed ID: 15489334

Amino acid sequences of cytochrome b5 from human, porcine, and bovine erythrocytes and comparison with liver microsomal cytochrome b5. PubMed ID: 4030743

Amino acid sequences of tryptic peptides of cytochromes b5 from microsomes of human, monkey, porcine, and chicken liver. PubMed ID: 4993957

Cytochrome b5 from a normal human liver. Isolation and the partial amino acid sequence. PubMed ID: 5062820

Structural studies of cytochrome b5. 3. Sequential studies on human liver cytochrome b5. PubMed ID: 4770377

Structure of cytochrome b5 and its topology in the microsomal membrane. PubMed ID: 2752049

A splicing mutation in the cytochrome b5 gene from a patient with congenital methemoglobinemia and pseudohermaphrodism. PubMed ID: 8168836

Isolated 17,20-lyase deficiency due to the cytochrome b5 mutation W27X. PubMed ID: 20080843

Initial characterization of the human central proteome. PubMed ID: 21269460

An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome. PubMed ID: 24275569

N-terminome analysis of the human mitochondrial proteome. PubMed ID: 25944712

A missense mutation in the human cytochrome B5 gene causes 46,XY disorder of sex development due to true isolated 17,20 lyase deficiency. PubMed ID: 22170710