Details for: BLOC1S1

Gene ID: 2647

Symbol: BLOC1S1

Ensembl ID: ENSG00000135441

Description: biogenesis of lysosomal organelles complex 1 subunit 1

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: CD14-low, CD16-positive monocyte (CL0002396)
    Fold Change: 4.94
    Marker Score: 3484
  • Cell Name: myeloid dendritic cell (CL0000782)
    Fold Change: 4
    Marker Score: 2428
  • Cell Name: Kupffer cell (CL0000091)
    Fold Change: 3.16
    Marker Score: 3161
  • Cell Name: foveolar cell of stomach (CL0002179)
    Fold Change: 3.11
    Marker Score: 19819
  • Cell Name: enterocyte (CL0000584)
    Fold Change: 3.01
    Marker Score: 14430
  • Cell Name: classical monocyte (CL0000860)
    Fold Change: 2.92
    Marker Score: 12126
  • Cell Name: kidney collecting duct intercalated cell (CL1001432)
    Fold Change: 2.73
    Marker Score: 4530
  • Cell Name: enterocyte of colon (CL1000347)
    Fold Change: 2.59
    Marker Score: 3984
  • Cell Name: intestine goblet cell (CL0019031)
    Fold Change: 2.58
    Marker Score: 2471
  • Cell Name: epithelial cell of proximal tubule (CL0002306)
    Fold Change: 2.57
    Marker Score: 9129
  • Cell Name: pancreatic A cell (CL0000171)
    Fold Change: 2.57
    Marker Score: 2514
  • Cell Name: tracheobronchial smooth muscle cell (CL0019019)
    Fold Change: 2.55
    Marker Score: 748
  • Cell Name: elicited macrophage (CL0000861)
    Fold Change: 2.5
    Marker Score: 15220
  • Cell Name: epithelial cell of esophagus (CL0002252)
    Fold Change: 2.45
    Marker Score: 21101
  • Cell Name: serous secreting cell (CL0000313)
    Fold Change: 2.4
    Marker Score: 957
  • Cell Name: CD8-positive, alpha-beta memory T cell (CL0000909)
    Fold Change: 2.4
    Marker Score: 2035
  • Cell Name: keratinocyte (CL0000312)
    Fold Change: 2.38
    Marker Score: 1990
  • Cell Name: CD4-positive, alpha-beta thymocyte (CL0000810)
    Fold Change: 2.37
    Marker Score: 1322
  • Cell Name: mucous neck cell (CL0000651)
    Fold Change: 2.34
    Marker Score: 5317
  • Cell Name: alveolar macrophage (CL0000583)
    Fold Change: 2.34
    Marker Score: 59915
  • Cell Name: kidney loop of Henle thick ascending limb epithelial cell (CL1001106)
    Fold Change: 2.32
    Marker Score: 6215
  • Cell Name: cell in vitro (CL0001034)
    Fold Change: 2.26
    Marker Score: 78312.5
  • Cell Name: CD14-positive, CD16-negative classical monocyte (CL0002057)
    Fold Change: 2.24
    Marker Score: 125190
  • Cell Name: decidual natural killer cell, human (CL0002343)
    Fold Change: 2.23
    Marker Score: 6168
  • Cell Name: skeletal muscle satellite stem cell (CL0008011)
    Fold Change: 2.21
    Marker Score: 2361
  • Cell Name: kidney interstitial cell (CL1000500)
    Fold Change: 2.2
    Marker Score: 1566
  • Cell Name: decidual cell (CL2000002)
    Fold Change: 2.17
    Marker Score: 9361
  • Cell Name: Hofbauer cell (CL3000001)
    Fold Change: 2.16
    Marker Score: 1189
  • Cell Name: type G enteroendocrine cell (CL0000508)
    Fold Change: 2.15
    Marker Score: 742
  • Cell Name: stratified epithelial cell (CL0000079)
    Fold Change: 2.15
    Marker Score: 16777
  • Cell Name: kidney loop of Henle thin ascending limb epithelial cell (CL1001107)
    Fold Change: 2.12
    Marker Score: 2150
  • Cell Name: lung macrophage (CL1001603)
    Fold Change: 2.08
    Marker Score: 2384
  • Cell Name: P/D1 enteroendocrine cell (CL0002268)
    Fold Change: 2.07
    Marker Score: 773
  • Cell Name: epithelial cell of nephron (CL1000449)
    Fold Change: 2.07
    Marker Score: 4320
  • Cell Name: pneumocyte (CL0000322)
    Fold Change: 2.06
    Marker Score: 3317
  • Cell Name: kidney connecting tubule epithelial cell (CL1000768)
    Fold Change: 2.04
    Marker Score: 2891
  • Cell Name: ciliated columnar cell of tracheobronchial tree (CL0002145)
    Fold Change: 2.04
    Marker Score: 17729
  • Cell Name: intraepithelial lymphocyte (CL0002496)
    Fold Change: 2.03
    Marker Score: 2261
  • Cell Name: bladder urothelial cell (CL1001428)
    Fold Change: 2
    Marker Score: 2939
  • Cell Name: acinar cell of salivary gland (CL0002623)
    Fold Change: 1.99
    Marker Score: 4527
  • Cell Name: kidney distal convoluted tubule epithelial cell (CL1000849)
    Fold Change: 1.98
    Marker Score: 2096
  • Cell Name: fetal cardiomyocyte (CL0002495)
    Fold Change: 1.97
    Marker Score: 648
  • Cell Name: intestinal crypt stem cell (CL0002250)
    Fold Change: 1.96
    Marker Score: 736
  • Cell Name: enterocyte of epithelium proper of ileum (CL1000342)
    Fold Change: 1.93
    Marker Score: 559
  • Cell Name: kidney epithelial cell (CL0002518)
    Fold Change: 1.93
    Marker Score: 2039
  • Cell Name: cortical thymic epithelial cell (CL0002364)
    Fold Change: 1.92
    Marker Score: 7113
  • Cell Name: kidney cell (CL1000497)
    Fold Change: 1.92
    Marker Score: 1279
  • Cell Name: mesenchymal stem cell (CL0000134)
    Fold Change: 1.92
    Marker Score: 2949
  • Cell Name: peripheral nervous system neuron (CL2000032)
    Fold Change: 1.91
    Marker Score: 2144
  • Cell Name: peptic cell (CL0000155)
    Fold Change: 1.9
    Marker Score: 796
  • Cell Name: pro-T cell (CL0000827)
    Fold Change: 1.9
    Marker Score: 7772
  • Cell Name: supporting cell (CL0000630)
    Fold Change: 1.9
    Marker Score: 3568
  • Cell Name: neural crest cell (CL0011012)
    Fold Change: 1.89
    Marker Score: 2016
  • Cell Name: enteroendocrine cell (CL0000164)
    Fold Change: 1.88
    Marker Score: 975
  • Cell Name: respiratory goblet cell (CL0002370)
    Fold Change: 1.88
    Marker Score: 542
  • Cell Name: glandular cell of esophagus (CL0002657)
    Fold Change: 1.87
    Marker Score: 592
  • Cell Name: malignant cell (CL0001064)
    Fold Change: 1.85
    Marker Score: 24847
  • Cell Name: colon epithelial cell (CL0011108)
    Fold Change: 1.85
    Marker Score: 5799.5
  • Cell Name: mature T cell (CL0002419)
    Fold Change: 1.85
    Marker Score: 18282
  • Cell Name: enteric smooth muscle cell (CL0002504)
    Fold Change: 1.84
    Marker Score: 4342
  • Cell Name: epithelial cell of lung (CL0000082)
    Fold Change: 1.84
    Marker Score: 9657
  • Cell Name: lung secretory cell (CL1000272)
    Fold Change: 1.83
    Marker Score: 1632
  • Cell Name: bronchial goblet cell (CL1000312)
    Fold Change: 1.82
    Marker Score: 900
  • Cell Name: radial glial cell (CL0000681)
    Fold Change: 1.82
    Marker Score: 672
  • Cell Name: pancreatic D cell (CL0000173)
    Fold Change: 1.82
    Marker Score: 789
  • Cell Name: skeletal muscle satellite cell (CL0000594)
    Fold Change: 1.8
    Marker Score: 1204
  • Cell Name: mesenchymal cell (CL0008019)
    Fold Change: 1.8
    Marker Score: 3058
  • Cell Name: myelocyte (CL0002193)
    Fold Change: 1.79
    Marker Score: 773
  • Cell Name: erythroid progenitor cell (CL0000038)
    Fold Change: 1.78
    Marker Score: 1859.5
  • Cell Name: professional antigen presenting cell (CL0000145)
    Fold Change: 1.78
    Marker Score: 920
  • Cell Name: eye photoreceptor cell (CL0000287)
    Fold Change: 1.78
    Marker Score: 529
  • Cell Name: transitional stage B cell (CL0000818)
    Fold Change: 1.77
    Marker Score: 628
  • Cell Name: type II pneumocyte (CL0002063)
    Fold Change: 1.77
    Marker Score: 11565.5
  • Cell Name: enterocyte of epithelium of large intestine (CL0002071)
    Fold Change: 1.75
    Marker Score: 1749
  • Cell Name: microfold cell of epithelium of small intestine (CL1000353)
    Fold Change: 1.75
    Marker Score: 418
  • Cell Name: epithelial cell of urethra (CL1000296)
    Fold Change: 1.75
    Marker Score: 1375
  • Cell Name: migratory enteric neural crest cell (CL0002607)
    Fold Change: 1.74
    Marker Score: 1638
  • Cell Name: IgG memory B cell (CL0000979)
    Fold Change: 1.73
    Marker Score: 1044
  • Cell Name: paneth cell of colon (CL0009009)
    Fold Change: 1.73
    Marker Score: 498
  • Cell Name: CD14-positive, CD16-positive monocyte (CL0002397)
    Fold Change: 1.73
    Marker Score: 3361
  • Cell Name: pancreatic ductal cell (CL0002079)
    Fold Change: 1.72
    Marker Score: 1786
  • Cell Name: IgG-negative class switched memory B cell (CL0002117)
    Fold Change: 1.71
    Marker Score: 1687
  • Cell Name: NKp44-positive group 3 innate lymphoid cell, human (CL0001079)
    Fold Change: 1.71
    Marker Score: 386
  • Cell Name: CD1c-positive myeloid dendritic cell (CL0002399)
    Fold Change: 1.7
    Marker Score: 4406
  • Cell Name: unswitched memory B cell (CL0000970)
    Fold Change: 1.7
    Marker Score: 996
  • Cell Name: glandular epithelial cell (CL0000150)
    Fold Change: 1.7
    Marker Score: 4175
  • Cell Name: basal cell of epithelium of trachea (CL1000348)
    Fold Change: 1.69
    Marker Score: 12596
  • Cell Name: progenitor cell of mammary luminal epithelium (CL0009116)
    Fold Change: 1.69
    Marker Score: 6518
  • Cell Name: blood cell (CL0000081)
    Fold Change: 1.68
    Marker Score: 19574
  • Cell Name: CD8-positive, alpha-beta cytokine secreting effector T cell (CL0000908)
    Fold Change: 1.68
    Marker Score: 724
  • Cell Name: smooth muscle cell (CL0000192)
    Fold Change: 1.68
    Marker Score: 1104
  • Cell Name: adventitial cell (CL0002503)
    Fold Change: 1.68
    Marker Score: 414
  • Cell Name: papillary tips cell (CL1000597)
    Fold Change: 1.65
    Marker Score: 334
  • Cell Name: type L enteroendocrine cell (CL0002279)
    Fold Change: 1.64
    Marker Score: 449
  • Cell Name: common dendritic progenitor (CL0001029)
    Fold Change: 1.64
    Marker Score: 568
  • Cell Name: CD8-positive, alpha-beta thymocyte (CL0000811)
    Fold Change: 1.64
    Marker Score: 907
  • Cell Name: nephron tubule epithelial cell (CL1000494)
    Fold Change: 1.64
    Marker Score: 384
  • Cell Name: NKp44-negative group 3 innate lymphoid cell, human (CL0001080)
    Fold Change: 1.64
    Marker Score: 360
  • Cell Name: kidney collecting duct principal cell (CL1001431)
    Fold Change: 1.63
    Marker Score: 4123
  • Cell Name: paneth cell of epithelium of small intestine (CL1000343)
    Fold Change: 1.63
    Marker Score: 405

Hover over a box to see details here...

Hover over a box to see details here...

Hover over a box to see details here...

Other Information

**Key characteristics:** * BL1S1 is a transmembrane protein that is expressed in a variety of cell types. * It is a key component of the lysosome localization complex, which is responsible for the sorting and transport of lysosomal organelles within cells. * It is a highly conserved protein, with a similar sequence found in organisms from yeast to humans. **Pathways and functions:** * BL1S1 is involved in the biogenesis of lysosomal organelles by interacting with other proteins in the complex. * It is also involved in the regulation of lysosome size. * BL1S1 is also involved in the sorting and transport of lysosomal organelles to the cell surface. **Clinical significance:** * Mutations in BL1S1 have been linked to a number of human diseases, including lysosomal disorders and neurodegenerative diseases. * These diseases are caused by mutations in genes that are involved in the biogenesis of lysosomal organelles. * BL1S1 is a promising target for the treatment of lysosomal disorders. **Additional notes:** * BL1S1 is a relatively new protein, with the first sequence being identified in 2002. * It is a member of the BL1 family of proteins, which are involved in the biogenesis of lysosomal organelles. * BL1S1 is a highly dynamic protein, with its expression being regulated by a variety of factors, including growth factors, cytokines, and hormones.

Genular Protein ID: 118357730

Symbol: BL1S1_HUMAN

Name: Biogenesis of lysosome-related organelles complex 1 subunit 1

UniProtKB Accession Codes:

P78537 A1L4Q9 Q6NZ45

Database IDs:

AGR 1 AlphaFoldDB 1 Antibodypedia 1 Bgee 1 BioGRID 1 BioGRID-ORCS 1 BioMuta 1 CCDS 1 CORUM 1 CTD 1 ComplexPortal 2 DMDM 1 DNASU 1 DisGeNET 1 EMBL 5 EPD 1 Ensembl 1 ExpressionAtlas 1 GO 22 GeneCards 1 GeneTree 1 GeneWiki 1 Genevisible 1 GenomeRNAi 1 HGNC 1 HOGENOM 1 HPA 1 InParanoid 1 IntAct 1 InterPro 1 KEGG 1 MANE-Select 1 MIM 1 MINT 1 MassIVE 1 MaxQB 1 NCBI Taxonomy 1 OMA 1 OpenTargets 1 OrthoDB 1 PANTHER 2 PIR 1 PRO 1 PathwayCommons 1 PaxDb 1 PeptideAtlas 1 Pfam 1 PharmGKB 1 Pharos 1 PhosphoSitePlus 1 PhylomeDB 1 Proteomes 1 ProteomicsDB 2 Pumba 1 RNAct 1 Reactome 2 RefSeq 1 SAM 1 SIGNOR 1 SMR 1 STRING 1 SignaLink 1 TreeFam 1 UCSC 1 UniProtKB 1 VEuPathDB 1 eggNOG 1 iPTMnet 1 jPOST 1 neXtProt 1

Citations:

PubMed ID: 8770567

Title: Molecular cloning of a novel human cDNA, RT14, containing a putative ORF highly conserved between human, fruit fly, and nematode.

PubMed ID: 8770567

DOI: 10.1093/dnares/2.5.235

PubMed ID: 16541075

Title: The finished DNA sequence of human chromosome 12.

PubMed ID: 16541075

DOI: 10.1038/nature04569

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: 8646881

Title: Isolation and characterization of a human cDNA clone (GCN5L1) homologous to GCN5, a yeast transcription activator.

PubMed ID: 8646881

DOI: 10.1159/000134324

PubMed ID: 15102850

Title: Identification of snapin and three novel proteins (BLOS1, BLOS2, and BLOS3/reduced pigmentation) as subunits of biogenesis of lysosome-related organelles complex-1 (BLOC-1).

PubMed ID: 15102850

DOI: 10.1074/jbc.m402513200

PubMed ID: 17182842

Title: BLOC-1 is required for cargo-specific sorting from vacuolar early endosomes toward lysosome-related organelles.

PubMed ID: 17182842

DOI: 10.1091/mbc.e06-12-1066

PubMed ID: 21269460

Title: Initial characterization of the human central proteome.

PubMed ID: 21269460

DOI: 10.1186/1752-0509-5-17

PubMed ID: 22309213

Title: Identification of a molecular component of the mitochondrial acetyl transferase program; a novel role for GCN5L1.

PubMed ID: 22309213

DOI: 10.1042/bj20120118

PubMed ID: 22203680

Title: Assembly and architecture of biogenesis of lysosome-related organelles complex-1 (BLOC-1).

PubMed ID: 22203680

DOI: 10.1074/jbc.m111.325746

PubMed ID: 25898167

Title: BORC, a multisubunit complex that regulates lysosome positioning.

PubMed ID: 25898167

DOI: 10.1016/j.devcel.2015.02.011

Sequence Information:

  • Length: 153
  • Mass: 17263
  • Checksum: B7D1FE64F242B25A
  • Sequence:
    • MAPGSRGERS SFRSRRGPGV PSPQPDVTML SRLLKEHQAK QNERKELQEK RRREAITAAT 
CLTEALVDHL NVGVAQAYMN QRKLDHEVKT LQVQAAQFAK QTGQWIGMVE NFNQALKEIG 
DVENWARSIE LDMRTIATAL EYVYKGQLQS APS

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.