Details for: BCS1L

Gene ID: 617

Symbol: BCS1L

Ensembl ID: ENSG00000074582

Description: BCS1 homolog, ubiquinol-cytochrome c reductase complex chaperone

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: 65.1258
    Cell Significance Index: -10.1300
  • Cell Name: hematopoietic oligopotent progenitor cell (CL0002032)
    Fold Change: 37.6907
    Cell Significance Index: -9.5600
  • Cell Name: embryonic stem cell (CL0002322)
    Fold Change: 28.9843
    Cell Significance Index: -11.9400
  • Cell Name: smooth muscle fiber of ileum (CL1000278)
    Fold Change: 27.5776
    Cell Significance Index: -13.0200
  • Cell Name: mucosal type mast cell (CL0000485)
    Fold Change: 27.2488
    Cell Significance Index: -11.0700
  • Cell Name: ciliated cell of the bronchus (CL0002332)
    Fold Change: 11.6471
    Cell Significance Index: -11.1200
  • Cell Name: orthochromatic erythroblast (CL0000552)
    Fold Change: 10.1382
    Cell Significance Index: -12.5000
  • Cell Name: CD8-alpha-beta-positive, alpha-beta intraepithelial T cell (CL0000796)
    Fold Change: 3.9009
    Cell Significance Index: -10.4500
  • Cell Name: stromal cell of bone marrow (CL0010001)
    Fold Change: 3.2919
    Cell Significance Index: -12.9900
  • Cell Name: colon goblet cell (CL0009039)
    Fold Change: 1.4179
    Cell Significance Index: 140.2600
  • Cell Name: tuft cell of colon (CL0009041)
    Fold Change: 1.0008
    Cell Significance Index: 903.6300
  • Cell Name: gut absorptive cell (CL0000677)
    Fold Change: 0.8767
    Cell Significance Index: 52.6300
  • Cell Name: epithelial cell of small intestine (CL0002254)
    Fold Change: 0.7495
    Cell Significance Index: 121.9000
  • Cell Name: enterocyte of epithelium of large intestine (CL0002071)
    Fold Change: 0.6908
    Cell Significance Index: 31.3100
  • Cell Name: microcirculation associated smooth muscle cell (CL0008035)
    Fold Change: 0.6595
    Cell Significance Index: 5.5400
  • Cell Name: skeletal muscle myoblast (CL0000515)
    Fold Change: 0.5869
    Cell Significance Index: 6.3800
  • Cell Name: bladder urothelial cell (CL1001428)
    Fold Change: 0.5357
    Cell Significance Index: 27.8300
  • Cell Name: enterocyte of epithelium of small intestine (CL1000334)
    Fold Change: 0.4758
    Cell Significance Index: 13.7100
  • Cell Name: microfold cell of epithelium of small intestine (CL1000353)
    Fold Change: 0.4508
    Cell Significance Index: 31.1800
  • Cell Name: basal epithelial cell of tracheobronchial tree (CL0002329)
    Fold Change: 0.3834
    Cell Significance Index: 10.7200
  • Cell Name: cortical cell of adrenal gland (CL0002097)
    Fold Change: 0.3605
    Cell Significance Index: 9.6600
  • Cell Name: fibroblast of dermis (CL0002551)
    Fold Change: 0.3488
    Cell Significance Index: 7.3000
  • Cell Name: eye photoreceptor cell (CL0000287)
    Fold Change: 0.3470
    Cell Significance Index: 21.8700
  • Cell Name: basal cell of prostate epithelium (CL0002341)
    Fold Change: 0.3393
    Cell Significance Index: 9.2400
  • Cell Name: neoplastic cell (CL0001063)
    Fold Change: 0.2982
    Cell Significance Index: 59.1700
  • Cell Name: epithelial cell of stomach (CL0002178)
    Fold Change: 0.2721
    Cell Significance Index: 31.7200
  • Cell Name: luminal adaptive secretory precursor cell of mammary gland (CL4033057)
    Fold Change: 0.2609
    Cell Significance Index: 12.2600
  • Cell Name: mesonephric nephron tubule epithelial cell (CL1000022)
    Fold Change: 0.2584
    Cell Significance Index: 8.9800
  • Cell Name: stromal cell of ovary (CL0002132)
    Fold Change: 0.2519
    Cell Significance Index: 34.5900
  • Cell Name: acinar cell of salivary gland (CL0002623)
    Fold Change: 0.2334
    Cell Significance Index: 10.8800
  • Cell Name: intermediate cell of urothelium (CL4030055)
    Fold Change: 0.1954
    Cell Significance Index: 35.2300
  • Cell Name: cell in vitro (CL0001034)
    Fold Change: 0.1756
    Cell Significance Index: 95.9000
  • Cell Name: odontoblast (CL0000060)
    Fold Change: 0.1506
    Cell Significance Index: 19.3100
  • Cell Name: basal cell of urothelium (CL1000486)
    Fold Change: 0.1499
    Cell Significance Index: 18.4300
  • Cell Name: enteroendocrine cell of colon (CL0009042)
    Fold Change: 0.1449
    Cell Significance Index: 27.5800
  • Cell Name: lactocyte (CL0002325)
    Fold Change: 0.1355
    Cell Significance Index: 17.5100
  • Cell Name: hair follicular keratinocyte (CL2000092)
    Fold Change: 0.1307
    Cell Significance Index: 57.7800
  • Cell Name: L2/3-6 intratelencephalic projecting glutamatergic neuron (CL4023040)
    Fold Change: 0.1234
    Cell Significance Index: 24.7500
  • Cell Name: transit amplifying cell of colon (CL0009011)
    Fold Change: 0.1205
    Cell Significance Index: 3.8600
  • Cell Name: early pro-B cell (CL0002046)
    Fold Change: 0.1193
    Cell Significance Index: 7.7000
  • Cell Name: granulosa cell (CL0000501)
    Fold Change: 0.1152
    Cell Significance Index: 3.0300
  • Cell Name: intestinal crypt stem cell of small intestine (CL0009017)
    Fold Change: 0.1141
    Cell Significance Index: 2.4300
  • Cell Name: pancreatic acinar cell (CL0002064)
    Fold Change: 0.0954
    Cell Significance Index: 16.2900
  • Cell Name: glycinergic neuron (CL1001509)
    Fold Change: 0.0881
    Cell Significance Index: 4.6300
  • Cell Name: sebum secreting cell (CL0000317)
    Fold Change: 0.0863
    Cell Significance Index: 6.1000
  • Cell Name: paneth cell of colon (CL0009009)
    Fold Change: 0.0707
    Cell Significance Index: 1.0600
  • Cell Name: endothelial cell of venule (CL1000414)
    Fold Change: 0.0660
    Cell Significance Index: 0.7500
  • Cell Name: progenitor cell of mammary luminal epithelium (CL0009116)
    Fold Change: 0.0657
    Cell Significance Index: 4.9000
  • Cell Name: tonsil germinal center B cell (CL2000006)
    Fold Change: 0.0534
    Cell Significance Index: 6.3000
  • Cell Name: obsolete caudal ganglionic eminence derived GABAergic cortical interneuron (CL4023070)
    Fold Change: 0.0410
    Cell Significance Index: 14.7200
  • Cell Name: lung endothelial cell (CL1001567)
    Fold Change: 0.0225
    Cell Significance Index: 1.1700
  • Cell Name: interstitial cell of ovary (CL0002094)
    Fold Change: 0.0215
    Cell Significance Index: 0.2800
  • Cell Name: cardiac muscle myoblast (CL0000513)
    Fold Change: 0.0095
    Cell Significance Index: 0.7300
  • Cell Name: mesenchymal cell (CL0008019)
    Fold Change: 0.0039
    Cell Significance Index: 0.0700
  • Cell Name: kidney loop of Henle cortical thick ascending limb epithelial cell (CL1001109)
    Fold Change: -0.0009
    Cell Significance Index: -0.6900
  • Cell Name: pigmented epithelial cell (CL0000529)
    Fold Change: -0.0009
    Cell Significance Index: -1.6800
  • Cell Name: pancreatic A cell (CL0000171)
    Fold Change: -0.0020
    Cell Significance Index: -1.5000
  • Cell Name: kidney cell (CL1000497)
    Fold Change: -0.0025
    Cell Significance Index: -0.0200
  • Cell Name: pulmonary alveolar epithelial cell (CL0000322)
    Fold Change: -0.0027
    Cell Significance Index: -2.0800
  • Cell Name: pancreatic PP cell (CL0002275)
    Fold Change: -0.0033
    Cell Significance Index: -2.0800
  • Cell Name: anterior lens cell (CL0002223)
    Fold Change: -0.0036
    Cell Significance Index: -6.5500
  • Cell Name: placental villous trophoblast (CL2000060)
    Fold Change: -0.0056
    Cell Significance Index: -0.1500
  • Cell Name: lens epithelial cell (CL0002224)
    Fold Change: -0.0060
    Cell Significance Index: -9.1700
  • Cell Name: secondary lens fiber (CL0002225)
    Fold Change: -0.0096
    Cell Significance Index: -13.0100
  • Cell Name: non-pigmented ciliary epithelial cell (CL0002304)
    Fold Change: -0.0102
    Cell Significance Index: -6.4700
  • Cell Name: type B pancreatic cell (CL0000169)
    Fold Change: -0.0114
    Cell Significance Index: -6.4500
  • Cell Name: abnormal cell (CL0001061)
    Fold Change: -0.0158
    Cell Significance Index: -1.6100
  • Cell Name: ciliary muscle cell (CL1000443)
    Fold Change: -0.0200
    Cell Significance Index: -9.0800
  • Cell Name: pro-T cell (CL0000827)
    Fold Change: -0.0243
    Cell Significance Index: -0.6200
  • Cell Name: retinal rod cell (CL0000604)
    Fold Change: -0.0247
    Cell Significance Index: -0.3000
  • Cell Name: pancreatic D cell (CL0000173)
    Fold Change: -0.0261
    Cell Significance Index: -5.4900
  • Cell Name: dopaminergic neuron (CL0000700)
    Fold Change: -0.0319
    Cell Significance Index: -9.1700
  • Cell Name: pigmented ciliary epithelial cell (CL0002303)
    Fold Change: -0.0365
    Cell Significance Index: -5.3000
  • Cell Name: pancreatic ductal cell (CL0002079)
    Fold Change: -0.0383
    Cell Significance Index: -4.3900
  • Cell Name: pancreatic endocrine cell (CL0008024)
    Fold Change: -0.0449
    Cell Significance Index: -5.1200
  • Cell Name: forebrain neuroblast (CL1000042)
    Fold Change: -0.0511
    Cell Significance Index: -3.1400
  • Cell Name: peg cell (CL4033014)
    Fold Change: -0.0645
    Cell Significance Index: -1.4900
  • Cell Name: paneth cell of epithelium of small intestine (CL1000343)
    Fold Change: -0.0711
    Cell Significance Index: -1.5400
  • Cell Name: retinal progenitor cell (CL0002672)
    Fold Change: -0.0757
    Cell Significance Index: -4.2500
  • Cell Name: CD4-positive, alpha-beta memory T cell, CD45RO-positive (CL0001204)
    Fold Change: -0.0906
    Cell Significance Index: -2.6600
  • Cell Name: small intestine goblet cell (CL1000495)
    Fold Change: -0.0911
    Cell Significance Index: -3.2000
  • Cell Name: neutrophil progenitor cell (CL0000834)
    Fold Change: -0.1161
    Cell Significance Index: -3.1100
  • Cell Name: kidney epithelial cell (CL0002518)
    Fold Change: -0.1202
    Cell Significance Index: -3.5400
  • Cell Name: enteroendocrine cell of small intestine (CL0009006)
    Fold Change: -0.1204
    Cell Significance Index: -3.0100
  • Cell Name: smooth muscle cell of sphincter of pupil (CL0002243)
    Fold Change: -0.1232
    Cell Significance Index: -12.8300
  • Cell Name: kidney loop of Henle descending limb epithelial cell (CL1001021)
    Fold Change: -0.1239
    Cell Significance Index: -9.8200
  • Cell Name: conjunctival epithelial cell (CL1000432)
    Fold Change: -0.1239
    Cell Significance Index: -1.6900
  • Cell Name: Purkinje cell (CL0000121)
    Fold Change: -0.1279
    Cell Significance Index: -2.8000
  • Cell Name: hippocampal granule cell (CL0001033)
    Fold Change: -0.1362
    Cell Significance Index: -9.1600
  • Cell Name: keratocyte (CL0002363)
    Fold Change: -0.1541
    Cell Significance Index: -2.4500
  • Cell Name: intestinal tuft cell (CL0019032)
    Fold Change: -0.1625
    Cell Significance Index: -9.9700
  • Cell Name: skeletal muscle fiber (CL0008002)
    Fold Change: -0.1965
    Cell Significance Index: -5.0500
  • Cell Name: fibroblast of mammary gland (CL0002555)
    Fold Change: -0.2058
    Cell Significance Index: -5.9000
  • Cell Name: periportal region hepatocyte (CL0019026)
    Fold Change: -0.2185
    Cell Significance Index: -3.2300
  • Cell Name: indirect pathway medium spiny neuron (CL4023029)
    Fold Change: -0.2521
    Cell Significance Index: -11.1500
  • Cell Name: umbrella cell of urothelium (CL4030056)
    Fold Change: -0.2623
    Cell Significance Index: -2.4200
  • Cell Name: proerythroblast (CL0000547)
    Fold Change: -0.2659
    Cell Significance Index: -3.8100
  • Cell Name: vascular lymphangioblast (CL0005022)
    Fold Change: -0.2682
    Cell Significance Index: -4.7400
  • Cell Name: stratified epithelial cell (CL0000079)
    Fold Change: -0.2686
    Cell Significance Index: -9.8600
  • Cell Name: intestinal epithelial cell (CL0002563)
    Fold Change: -0.2768
    Cell Significance Index: -2.8700

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** BCS1L is a small gene that spans approximately 1.5 kilobases and is highly conserved across species. The BCS1 protein is a mitochondrial chaperone that interacts with the cytochrome c oxidase complex, facilitating its assembly and maturation. The BCS1 protein has a unique structure, consisting of two domains: a N-terminal domain and a C-terminal domain. The N-terminal domain is involved in protein-protein interactions, while the C-terminal domain is responsible for binding to the cytochrome c oxidase complex. **Pathways and Functions** The BCS1L gene is involved in several key pathways, including: 1. **Mitochondrial Respiratory Chain Complex III Assembly**: BCS1L plays a critical role in the assembly of the cytochrome c oxidase complex, the terminal enzyme of the mitochondrial respiratory chain. 2. **Mitochondrial Protein Import**: BCS1L is involved in the import of proteins into the mitochondria, ensuring the proper assembly and function of the respiratory chain complex. 3. **Mitochondrial Cytochrome C Oxidase Assembly**: BCS1L facilitates the assembly of the cytochrome c oxidase complex, which is essential for the production of ATP through oxidative phosphorylation. **Clinical Significance** Mutations in the BCS1L gene have been linked to various diseases, including: 1. **Neurodegenerative Disorders**: Mutations in BCS1L have been associated with neurodegenerative disorders, such as Parkinson's disease and Huntington's disease. 2. **Metabolic Disorders**: BCS1L mutations have also been linked to metabolic disorders, such as diabetes and obesity. 3. **Cancer**: Aberrant expression of BCS1L has been observed in various types of cancer, suggesting a potential role in tumorigenesis. In conclusion, BCS1L is a critical gene that plays a pivotal role in the assembly and function of the mitochondrial respiratory chain complex. Mutations in this gene have significant implications for human health, highlighting the importance of mitochondrial function in maintaining cellular homeostasis. Further research is necessary to fully elucidate the role of BCS1L in human disease and to explore potential therapeutic strategies for targeting this gene.

Genular Protein ID: 3336524564

Symbol: BCS1_HUMAN

Name: Mitochondrial chaperone BCS1

UniProtKB Accession Codes:

Database IDs:

Citations:

PubMed ID: 9878253

Title: Identification and characterization of human cDNAs specific to BCS1, PET112, SCO1, COX15, and COX11, five genes involved in the formation and function of the mitochondrial respiratory chain.

PubMed ID: 9878253

DOI: 10.1006/geno.1998.5580

PubMed ID: 11528392

Title: A mutant mitochondrial respiratory chain assembly protein causes complex III deficiency in patients with tubulopathy, encephalopathy and liver failure.

PubMed ID: 11528392

DOI: 10.1038/ng706

PubMed ID: 12215968

Title: GRACILE syndrome, a lethal metabolic disorder with iron overload, is caused by a point mutation in BCS1L.

PubMed ID: 12215968

DOI: 10.1086/342773

PubMed ID: 9110174

Title: Large-scale concatenation cDNA sequencing.

PubMed ID: 9110174

DOI: 10.1101/gr.7.4.353

PubMed ID: 14702039

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

PubMed ID: 14702039

DOI: 10.1038/ng1285

PubMed ID: 17974005

Title: The full-ORF clone resource of the German cDNA consortium.

PubMed ID: 17974005

DOI: 10.1186/1471-2164-8-399

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: 18628306

Title: Characterization of the mitochondrial protein LETM1, which maintains the mitochondrial tubular shapes and interacts with the AAA-ATPase BCS1L.

PubMed ID: 18628306

DOI: 10.1242/jcs.026625

PubMed ID: 21269460

Title: Initial characterization of the human central proteome.

PubMed ID: 21269460

DOI: 10.1186/1752-0509-5-17

PubMed ID: 23186163

Title: Toward a comprehensive characterization of a human cancer cell phosphoproteome.

PubMed ID: 23186163

DOI: 10.1021/pr300630k

PubMed ID: 25944712

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

PubMed ID: 25944712

DOI: 10.1002/pmic.201400617

PubMed ID: 12910490

Title: Clinical and diagnostic characteristics of complex III deficiency due to mutations in the BCS1L gene.

PubMed ID: 12910490

DOI: 10.1002/ajmg.a.20171

PubMed ID: 17403714

Title: Impaired complex III assembly associated with BCS1L gene mutations in isolated mitochondrial encephalopathy.

PubMed ID: 17403714

DOI: 10.1093/hmg/ddm072

PubMed ID: 17314340

Title: Missense mutations in the BCS1L gene as a cause of the Bjoernstad syndrome.

PubMed ID: 17314340

DOI: 10.1056/nejmoa055262

PubMed ID: 19162478

Title: Infantile mitochondrial encephalomyopathy with unusual phenotype caused by a novel BCS1L mutation in an isolated complex III-deficient patient.

PubMed ID: 19162478

DOI: 10.1016/j.nmd.2008.11.016

PubMed ID: 24172246

Title: Novel mutation in AAA domain of BCS1L causing Bjornstad syndrome.

PubMed ID: 24172246

DOI: 10.1038/jhg.2013.101

PubMed ID: 22991165

Title: Clinical and biochemical features associated with BCS1L mutation.

PubMed ID: 22991165

DOI: 10.1007/s10545-012-9536-4

PubMed ID: 38423010

Title: Bi-allelic variants in SNF8 cause a disease spectrum ranging from severe developmental and epileptic encephalopathy to syndromic optic atrophy.

PubMed ID: 38423010

DOI: 10.1016/j.ajhg.2024.02.005

Sequence Information:

  • Length: 419
  • Mass: 47534
  • Checksum: 7F0F98BA62F2CBB8
  • Sequence:
  • MPLSDFILAL KDNPYFGAGF GLVGVGTALA LARKGVQLGL VAFRRHYMIT LEVPARDRSY 
    AWLLSWLTRH STRTQHLSVE TSYLQHESGR ISTKFEFVPS PGNHFIWYRG KWIRVERSRE 
    MQMIDLQTGT PWESVTFTAL GTDRKVFFNI LEEARELALQ QEEGKTVMYT AVGSEWRPFG 
    YPRRRRPLNS VVLQQGLADR IVRDVQEFID NPKWYTDRGI PYRRGYLLYG PPGCGKSSFI 
    TALAGELEHS ICLLSLTDSS LSDDRLNHLL SVAPQQSLVL LEDVDAAFLS RDLAVENPVK 
    YQGLGRLTFS GLLNALDGVA STEARIVFMT TNHVDRLDPA LIRPGRVDLK EYVGYCSHWQ 
    LTQMFQRFYP GQAPSLAENF AEHVLRATNQ ISPAQVQGYF MLYKNDPVGA IHNAESLRR

Genular Protein ID: 2908627592

Symbol: A8JZZ8_HUMAN

Name: N/A

UniProtKB Accession Codes:

Database IDs:

Sequence Information:

  • Length: 419
  • Mass: 47550
  • Checksum: 2E4BD69C0EF9EBFF
  • Sequence:
  • MPLSDFILAL KDNPYFGAGF GLVGVGTALA LARKGVQLGL VAFRRHYMIT LEVPARDRSY 
    AWLLSWLTRH STRTQHLSVE TSYLQHESGR ISTKFEFVPS LGNHFIWYRG KWIRVERSRE 
    MQMIDLQTGT PWESVTFTAL GTDRKVFFNI LEEARELALQ QEEGKTVMYT AVGSEWRPFG 
    YPRRRRPLNS VVLQQGLADR IVRDVQEFID NPKWYTDRGI PYRRGYLLYG PPGCGKSSFI 
    TALAGELEHS ICLLSLTDSS LSDDRLNHLL SVAPQQSLVL LEDVDAAFLS RDLAVENPVK 
    YQGLGRLTFS GLLNALDGVA STEARIVFMT TNHVDRLDPA LIRPGRVDLK EYVGYCSHWQ 
    LTQMFQRFYP GQAPSLAENF AEHVLRATNQ ISPAQVQGYF MLYKNDPVGA IHNAESLRR

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.