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)

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

  • Cell Name: mural cell (CL0008034)
    Fold Change: 1.47
    Marker Score: 168868
  • Cell Name: proerythroblast (CL0000547)
    Fold Change: 1.02
    Marker Score: 693
  • Cell Name: cerebral cortex GABAergic interneuron (CL0010011)
    Fold Change: 1
    Marker Score: 71758
  • Cell Name: forebrain radial glial cell (CL0013000)
    Fold Change: 1
    Marker Score: 47982
  • Cell Name: absorptive cell (CL0000212)
    Fold Change: 0.98
    Marker Score: 30401
  • Cell Name: erythroid progenitor cell (CL0000038)
    Fold Change: 0.97
    Marker Score: 1013.5
  • Cell Name: intestinal crypt stem cell of colon (CL0009043)
    Fold Change: 0.95
    Marker Score: 2402
  • Cell Name: tuft cell of colon (CL0009041)
    Fold Change: 0.94
    Marker Score: 484
  • Cell Name: BEST4+ intestinal epithelial cell, human (CL4030026)
    Fold Change: 0.93
    Marker Score: 437
  • Cell Name: abnormal cell (CL0001061)
    Fold Change: 0.91
    Marker Score: 2714
  • Cell Name: neoplastic cell (CL0001063)
    Fold Change: 0.87
    Marker Score: 5253
  • Cell Name: transit amplifying cell (CL0009010)
    Fold Change: 0.86
    Marker Score: 4933
  • Cell Name: primitive red blood cell (CL0002355)
    Fold Change: 0.86
    Marker Score: 643.5
  • Cell Name: epithelial cell of small intestine (CL0002254)
    Fold Change: 0.85
    Marker Score: 307
  • Cell Name: placental villous trophoblast (CL2000060)
    Fold Change: 0.85
    Marker Score: 3335
  • Cell Name: intestinal epithelial cell (CL0002563)
    Fold Change: 0.78
    Marker Score: 1264
  • Cell Name: small intestine goblet cell (CL1000495)
    Fold Change: 0.75
    Marker Score: 299
  • Cell Name: Leydig cell (CL0000178)
    Fold Change: 0.73
    Marker Score: 791
  • Cell Name: Cajal-Retzius cell (CL0000695)
    Fold Change: 0.72
    Marker Score: 375
  • Cell Name: early T lineage precursor (CL0002425)
    Fold Change: 0.72
    Marker Score: 548.5
  • Cell Name: osteoclast (CL0000092)
    Fold Change: 0.71
    Marker Score: 353
  • Cell Name: brush cell (CL0002204)
    Fold Change: 0.7
    Marker Score: 642
  • Cell Name: peripheral nervous system neuron (CL2000032)
    Fold Change: 0.69
    Marker Score: 771
  • Cell Name: neural cell (CL0002319)
    Fold Change: 0.68
    Marker Score: 330
  • Cell Name: cardiac muscle myoblast (CL0000513)
    Fold Change: 0.67
    Marker Score: 10442
  • Cell Name: enterocyte of epithelium of small intestine (CL1000334)
    Fold Change: 0.66
    Marker Score: 2773
  • Cell Name: neutrophil progenitor cell (CL0000834)
    Fold Change: 0.66
    Marker Score: 169
  • Cell Name: epithelial cell of nephron (CL1000449)
    Fold Change: 0.65
    Marker Score: 1350
  • Cell Name: oogonial cell (CL0000024)
    Fold Change: 0.64
    Marker Score: 925
  • Cell Name: kidney epithelial cell (CL0002518)
    Fold Change: 0.64
    Marker Score: 677.5
  • Cell Name: stem cell (CL0000034)
    Fold Change: 0.61
    Marker Score: 1458
  • Cell Name: primordial germ cell (CL0000670)
    Fold Change: 0.61
    Marker Score: 763
  • Cell Name: epithelial cell of esophagus (CL0002252)
    Fold Change: 0.6
    Marker Score: 5141
  • Cell Name: cortical thymic epithelial cell (CL0002364)
    Fold Change: 0.59
    Marker Score: 2193
  • Cell Name: acinar cell of salivary gland (CL0002623)
    Fold Change: 0.59
    Marker Score: 1348
  • Cell Name: kidney cell (CL1000497)
    Fold Change: 0.57
    Marker Score: 382
  • Cell Name: precursor B cell (CL0000817)
    Fold Change: 0.57
    Marker Score: 377
  • Cell Name: pro-T cell (CL0000827)
    Fold Change: 0.56
    Marker Score: 2303
  • Cell Name: primary sensory neuron (sensu Teleostei) (CL0000531)
    Fold Change: 0.56
    Marker Score: 189
  • Cell Name: Unknown (CL0002371)
    Fold Change: 0.56
    Marker Score: 592
  • Cell Name: migratory enteric neural crest cell (CL0002607)
    Fold Change: 0.55
    Marker Score: 521
  • Cell Name: decidual cell (CL2000002)
    Fold Change: 0.55
    Marker Score: 2378
  • Cell Name: mesodermal cell (CL0000222)
    Fold Change: 0.54
    Marker Score: 7157
  • Cell Name: intestinal enteroendocrine cell (CL1001516)
    Fold Change: 0.54
    Marker Score: 431
  • Cell Name: mesenchymal cell (CL0008019)
    Fold Change: 0.54
    Marker Score: 915
  • Cell Name: bladder urothelial cell (CL1001428)
    Fold Change: 0.54
    Marker Score: 789
  • Cell Name: neural crest cell (CL0011012)
    Fold Change: 0.53
    Marker Score: 568
  • Cell Name: plasmablast (CL0000980)
    Fold Change: 0.53
    Marker Score: 704
  • Cell Name: preosteoblast (CL0007010)
    Fold Change: 0.52
    Marker Score: 148
  • Cell Name: enteric smooth muscle cell (CL0002504)
    Fold Change: 0.52
    Marker Score: 1224
  • Cell Name: respiratory epithelial cell (CL0002368)
    Fold Change: 0.51
    Marker Score: 282
  • Cell Name: common myeloid progenitor (CL0000049)
    Fold Change: 0.49
    Marker Score: 130
  • Cell Name: inhibitory motor neuron (CL0008015)
    Fold Change: 0.49
    Marker Score: 230
  • Cell Name: fraction A pre-pro B cell (CL0002045)
    Fold Change: 0.48
    Marker Score: 488
  • Cell Name: granulocyte monocyte progenitor cell (CL0000557)
    Fold Change: 0.48
    Marker Score: 307
  • Cell Name: interstitial cell of ovary (CL0002094)
    Fold Change: 0.48
    Marker Score: 3139
  • Cell Name: nephron tubule epithelial cell (CL1000494)
    Fold Change: 0.48
    Marker Score: 113
  • Cell Name: neuroblast (sensu Vertebrata) (CL0000031)
    Fold Change: 0.47
    Marker Score: 298
  • Cell Name: hematopoietic precursor cell (CL0008001)
    Fold Change: 0.47
    Marker Score: 166
  • Cell Name: hematopoietic stem cell (CL0000037)
    Fold Change: 0.47
    Marker Score: 247
  • Cell Name: gut absorptive cell (CL0000677)
    Fold Change: 0.47
    Marker Score: 299
  • Cell Name: nasal mucosa goblet cell (CL0002480)
    Fold Change: 0.47
    Marker Score: 311
  • Cell Name: enterocyte of epithelium of large intestine (CL0002071)
    Fold Change: 0.46
    Marker Score: 462
  • Cell Name: pancreatic ductal cell (CL0002079)
    Fold Change: 0.46
    Marker Score: 481
  • Cell Name: kidney collecting duct intercalated cell (CL1001432)
    Fold Change: 0.46
    Marker Score: 764
  • Cell Name: pancreatic A cell (CL0000171)
    Fold Change: 0.45
    Marker Score: 445
  • Cell Name: stromal cell of ovary (CL0002132)
    Fold Change: 0.45
    Marker Score: 5109
  • Cell Name: megakaryocyte-erythroid progenitor cell (CL0000050)
    Fold Change: 0.45
    Marker Score: 188
  • Cell Name: medullary thymic epithelial cell (CL0002365)
    Fold Change: 0.44
    Marker Score: 721.5
  • Cell Name: hepatocyte (CL0000182)
    Fold Change: 0.44
    Marker Score: 300
  • Cell Name: radial glial cell (CL0000681)
    Fold Change: 0.44
    Marker Score: 162
  • Cell Name: motor neuron (CL0000100)
    Fold Change: 0.44
    Marker Score: 260
  • Cell Name: kidney collecting duct cell (CL1001225)
    Fold Change: 0.43
    Marker Score: 85
  • Cell Name: enteric neuron (CL0007011)
    Fold Change: 0.43
    Marker Score: 230
  • Cell Name: type EC enteroendocrine cell (CL0000577)
    Fold Change: 0.43
    Marker Score: 407
  • Cell Name: ovarian surface epithelial cell (CL2000064)
    Fold Change: 0.43
    Marker Score: 1175
  • Cell Name: pro-B cell (CL0000826)
    Fold Change: 0.43
    Marker Score: 414
  • Cell Name: erythroid progenitor cell, mammalian (CL0001066)
    Fold Change: 0.42
    Marker Score: 136
  • Cell Name: male germ cell (CL0000015)
    Fold Change: 0.42
    Marker Score: 122
  • Cell Name: kidney loop of Henle thin ascending limb epithelial cell (CL1001107)
    Fold Change: 0.42
    Marker Score: 426
  • Cell Name: kidney collecting duct principal cell (CL1001431)
    Fold Change: 0.42
    Marker Score: 1054
  • Cell Name: choroid plexus epithelial cell (CL0000706)
    Fold Change: 0.42
    Marker Score: 383
  • Cell Name: type B pancreatic cell (CL0000169)
    Fold Change: 0.41
    Marker Score: 411
  • Cell Name: large pre-B-II cell (CL0000957)
    Fold Change: 0.41
    Marker Score: 1125
  • Cell Name: fibroblast of lung (CL0002553)
    Fold Change: 0.41
    Marker Score: 1083
  • Cell Name: intestinal crypt stem cell of large intestine (CL0009016)
    Fold Change: 0.41
    Marker Score: 124
  • Cell Name: basal cell of epithelium of trachea (CL1000348)
    Fold Change: 0.41
    Marker Score: 3060
  • Cell Name: Unknown (CL0000548)
    Fold Change: 0.41
    Marker Score: 297
  • Cell Name: Hofbauer cell (CL3000001)
    Fold Change: 0.41
    Marker Score: 224
  • Cell Name: GABAergic amacrine cell (CL4030027)
    Fold Change: 0.4
    Marker Score: 823
  • Cell Name: mammary gland epithelial cell (CL0002327)
    Fold Change: 0.4
    Marker Score: 143
  • Cell Name: mesenchymal stem cell (CL0000134)
    Fold Change: 0.4
    Marker Score: 618.5
  • Cell Name: extravillous trophoblast (CL0008036)
    Fold Change: 0.4
    Marker Score: 358
  • Cell Name: epithelial cell of glomerular capsule (CL1000450)
    Fold Change: 0.4
    Marker Score: 102
  • Cell Name: fibroblast of breast (CL4006000)
    Fold Change: 0.4
    Marker Score: 228
  • Cell Name: CD34-positive, CD38-negative hematopoietic stem cell (CL0001024)
    Fold Change: 0.4
    Marker Score: 287
  • Cell Name: kidney loop of Henle thick ascending limb epithelial cell (CL1001106)
    Fold Change: 0.4
    Marker Score: 1059
  • Cell Name: luminal epithelial cell of mammary gland (CL0002326)
    Fold Change: 0.39
    Marker Score: 699
  • Cell Name: neural progenitor cell (CL0011020)
    Fold Change: 0.39
    Marker Score: 1519
  • Cell Name: erythroblast (CL0000765)
    Fold Change: 0.39
    Marker Score: 241

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Other Information

## Summary The BCS1L gene encodes for a mitochondrial chaperone protein called BCS1. BCS1 is involved in the assembly and maintenance of the mitochondrial respiratory chain complex III, a complex responsible for energy production in the mitochondria of eukaryotic cells. ## Key characteristics * BCS1 is a chaperone protein that is found in the mitochondria of eukaryotic cells. * It is a key component of the mitochondrial respiratory chain complex III, a complex responsible for energy production in the mitochondria of eukaryotic cells. * BCS1 is involved in the assembly and maintenance of the mitochondrial respiratory chain complex III. * It is also involved in the assembly and maintenance of other mitochondrial proteins. ## Pathways and functions * BCS1 is involved in the assembly and maintenance of the mitochondrial respiratory chain complex III. * The mitochondrial respiratory chain complex III is a complex of proteins that is responsible for energy production in the mitochondria of eukaryotic cells. * BCS1 is a chaperone protein that helps to ensure that the mitochondrial respiratory chain complex III is assembled correctly. * It also helps to regulate the activity of the complex. ## Clinical significance * Mutations in the BCS1L gene have been linked to a number of human diseases, including mitochondrial disorders and cancer. * These diseases are caused by mutations in genes that are involved in the assembly and maintenance of the mitochondrial respiratory chain complex III. * Targeting BCS1 with drugs is a promising new therapy for these diseases.

Genular Protein ID: 3336524564

Symbol: BCS1_HUMAN

Name: Mitochondrial chaperone BCS1

UniProtKB Accession Codes:

Q9Y276 B3KTW9 Q7Z2V7

Database IDs:

AGR 1 AlphaFoldDB 1 Antibodypedia 1 Bgee 1 BioGRID 1 BioGRID-ORCS 1 BioMuta 1 CCDS 1 CDD 1 CTD 1 ChEBI 1 DMDM 1 DNASU 1 DisGeNET 1 EMBL 9 EPD 1 Ensembl 7 ExpressionAtlas 1 GO 10 Gene3D 1 GeneCards 1 GeneReviews 1 GeneTree 1 GeneWiki 1 Genevisible 1 GenomeRNAi 1 GlyGen 1 HGNC 1 HOGENOM 1 HPA 1 InParanoid 1 IntAct 1 InterPro 5 KEGG 1 MANE-Select 1 MIM 7 MINT 1 MalaCards 1 MassIVE 1 MaxQB 1 NCBI Taxonomy 1 OMA 1 OpenTargets 1 Orphanet 4 OrthoDB 1 PANTHER 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 1 RefSeq 10 SIGNOR 1 SMART 2 SMR 1 STRING 1 SUPFAM 1 SignaLink 1 SwissPalm 1 TCDB 1 TreeFam 1 UCSC 1 VEuPathDB 1 eggNOG 1 iPTMnet 1 jPOST 1 neXtProt 1

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

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:

A8JZZ8

Database IDs:

ARBA 5 AlphaFoldDB 1 BioGRID-ORCS 1 CDD 1 CTD 1 DNASU 1 EMBL 2 GO 3 Gene3D 1 GenomeRNAi 1 IntAct 1 InterPro 5 NCBI Taxonomy 1 OrthoDB 1 PANTHER 2 PROSITE 1 PeptideAtlas 1 Pfam 2 RefSeq 1 RuleBase 1 SMART 4 SUPFAM 1

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. For the full schema, download it here.