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)

(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: 329.6469
    Cell Significance Index: -51.2800
  • Cell Name: hematopoietic oligopotent progenitor cell (CL0002032)
    Fold Change: 257.0538
    Cell Significance Index: -65.2000
  • Cell Name: embryonic stem cell (CL0002322)
    Fold Change: 184.8961
    Cell Significance Index: -76.1700
  • Cell Name: smooth muscle fiber of ileum (CL1000278)
    Fold Change: 160.7633
    Cell Significance Index: -75.9000
  • Cell Name: peripheral blood mononuclear cell (CL2000001)
    Fold Change: 142.1114
    Cell Significance Index: -73.1000
  • Cell Name: ileal goblet cell (CL1000326)
    Fold Change: 113.0514
    Cell Significance Index: -75.8600
  • Cell Name: orthochromatic erythroblast (CL0000552)
    Fold Change: 57.6034
    Cell Significance Index: -71.0200
  • Cell Name: stromal cell of bone marrow (CL0010001)
    Fold Change: 19.6196
    Cell Significance Index: -77.4200
  • Cell Name: CD8-positive, alpha-beta regulatory T cell (CL0000795)
    Fold Change: 16.5296
    Cell Significance Index: -50.7700
  • Cell Name: CD8-alpha-beta-positive, alpha-beta intraepithelial T cell (CL0000796)
    Fold Change: 13.9388
    Cell Significance Index: -37.3400
  • Cell Name: peg cell (CL4033014)
    Fold Change: 4.2652
    Cell Significance Index: 98.5400
  • Cell Name: neutrophil progenitor cell (CL0000834)
    Fold Change: 3.1386
    Cell Significance Index: 83.9600
  • Cell Name: umbrella cell of urothelium (CL4030056)
    Fold Change: 3.0455
    Cell Significance Index: 28.0500
  • Cell Name: acinar cell of salivary gland (CL0002623)
    Fold Change: 2.3464
    Cell Significance Index: 109.4000
  • Cell Name: cell in vitro (CL0001034)
    Fold Change: 1.7721
    Cell Significance Index: 967.7700
  • Cell Name: intermediate cell of urothelium (CL4030055)
    Fold Change: 1.7706
    Cell Significance Index: 319.1800
  • Cell Name: basal cell of urothelium (CL1000486)
    Fold Change: 1.6790
    Cell Significance Index: 206.4500
  • Cell Name: paneth cell of colon (CL0009009)
    Fold Change: 1.5650
    Cell Significance Index: 23.4500
  • Cell Name: CD14-positive, CD16-negative classical monocyte (CL0002057)
    Fold Change: 1.5404
    Cell Significance Index: 28.4700
  • Cell Name: hair follicular keratinocyte (CL2000092)
    Fold Change: 1.4953
    Cell Significance Index: 661.1300
  • Cell Name: enterocyte of epithelium of large intestine (CL0002071)
    Fold Change: 1.3066
    Cell Significance Index: 59.2300
  • Cell Name: stromal cell of ovary (CL0002132)
    Fold Change: 1.2261
    Cell Significance Index: 168.3800
  • Cell Name: endothelial cell of venule (CL1000414)
    Fold Change: 1.2024
    Cell Significance Index: 13.6600
  • Cell Name: enterocyte of epithelium of small intestine (CL1000334)
    Fold Change: 1.1998
    Cell Significance Index: 34.5700
  • Cell Name: bladder urothelial cell (CL1001428)
    Fold Change: 1.0091
    Cell Significance Index: 52.4200
  • Cell Name: thyroid follicular cell (CL0002258)
    Fold Change: 0.9685
    Cell Significance Index: 10.2900
  • Cell Name: sebum secreting cell (CL0000317)
    Fold Change: 0.9427
    Cell Significance Index: 66.6700
  • Cell Name: early pro-B cell (CL0002046)
    Fold Change: 0.8654
    Cell Significance Index: 55.8300
  • Cell Name: tonsil germinal center B cell (CL2000006)
    Fold Change: 0.8603
    Cell Significance Index: 101.4600
  • Cell Name: basal cell of prostate epithelium (CL0002341)
    Fold Change: 0.8391
    Cell Significance Index: 22.8400
  • Cell Name: progenitor cell of mammary luminal epithelium (CL0009116)
    Fold Change: 0.8224
    Cell Significance Index: 61.2900
  • Cell Name: fibroblast of dermis (CL0002551)
    Fold Change: 0.7396
    Cell Significance Index: 15.4800
  • Cell Name: epithelial cell of small intestine (CL0002254)
    Fold Change: 0.6865
    Cell Significance Index: 111.6500
  • Cell Name: colon goblet cell (CL0009039)
    Fold Change: 0.6756
    Cell Significance Index: 66.8400
  • Cell Name: odontoblast (CL0000060)
    Fold Change: 0.6709
    Cell Significance Index: 86.0100
  • Cell Name: eye photoreceptor cell (CL0000287)
    Fold Change: 0.6619
    Cell Significance Index: 41.7200
  • Cell Name: enteroendocrine cell of colon (CL0009042)
    Fold Change: 0.5449
    Cell Significance Index: 103.6900
  • Cell Name: lactocyte (CL0002325)
    Fold Change: 0.5373
    Cell Significance Index: 69.4200
  • Cell Name: glycinergic neuron (CL1001509)
    Fold Change: 0.5339
    Cell Significance Index: 28.0300
  • Cell Name: kidney cell (CL1000497)
    Fold Change: 0.4644
    Cell Significance Index: 3.7100
  • Cell Name: luminal adaptive secretory precursor cell of mammary gland (CL4033057)
    Fold Change: 0.4625
    Cell Significance Index: 21.7400
  • Cell Name: pancreatic acinar cell (CL0002064)
    Fold Change: 0.3763
    Cell Significance Index: 64.2500
  • Cell Name: dopaminergic neuron (CL0000700)
    Fold Change: 0.3454
    Cell Significance Index: 99.3800
  • Cell Name: small intestine goblet cell (CL1000495)
    Fold Change: 0.2198
    Cell Significance Index: 7.7300
  • Cell Name: cardiac muscle cell (CL0000746)
    Fold Change: 0.1893
    Cell Significance Index: 2.8000
  • Cell Name: kidney loop of Henle cortical thick ascending limb epithelial cell (CL1001109)
    Fold Change: 0.1044
    Cell Significance Index: 76.5800
  • Cell Name: pulmonary alveolar epithelial cell (CL0000322)
    Fold Change: 0.0725
    Cell Significance Index: 54.9100
  • Cell Name: L2/3-6 intratelencephalic projecting glutamatergic neuron (CL4023040)
    Fold Change: 0.0684
    Cell Significance Index: 13.7300
  • Cell Name: obsolete caudal ganglionic eminence derived GABAergic cortical interneuron (CL4023070)
    Fold Change: 0.0243
    Cell Significance Index: 8.7300
  • Cell Name: mesenchymal cell (CL0008019)
    Fold Change: 0.0191
    Cell Significance Index: 0.3200
  • Cell Name: mesonephric nephron tubule epithelial cell (CL1000022)
    Fold Change: -0.0092
    Cell Significance Index: -0.3200
  • Cell Name: pancreatic PP cell (CL0002275)
    Fold Change: -0.0167
    Cell Significance Index: -10.4500
  • Cell Name: pancreatic A cell (CL0000171)
    Fold Change: -0.0235
    Cell Significance Index: -17.4100
  • Cell Name: pigmented epithelial cell (CL0000529)
    Fold Change: -0.0352
    Cell Significance Index: -66.2600
  • Cell Name: abnormal cell (CL0001061)
    Fold Change: -0.0495
    Cell Significance Index: -5.0600
  • Cell Name: anterior lens cell (CL0002223)
    Fold Change: -0.0510
    Cell Significance Index: -94.0600
  • Cell Name: fibro/adipogenic progenitor cell (CL0009099)
    Fold Change: -0.0561
    Cell Significance Index: -2.8300
  • Cell Name: lens epithelial cell (CL0002224)
    Fold Change: -0.0615
    Cell Significance Index: -94.6400
  • Cell Name: skeletal muscle myoblast (CL0000515)
    Fold Change: -0.0699
    Cell Significance Index: -0.7600
  • Cell Name: secondary lens fiber (CL0002225)
    Fold Change: -0.0710
    Cell Significance Index: -96.5100
  • Cell Name: type B pancreatic cell (CL0000169)
    Fold Change: -0.0901
    Cell Significance Index: -50.8400
  • Cell Name: non-pigmented ciliary epithelial cell (CL0002304)
    Fold Change: -0.1026
    Cell Significance Index: -65.1700
  • Cell Name: ciliary muscle cell (CL1000443)
    Fold Change: -0.1525
    Cell Significance Index: -69.2300
  • Cell Name: pancreatic D cell (CL0000173)
    Fold Change: -0.1566
    Cell Significance Index: -32.9900
  • Cell Name: epithelial cell of stomach (CL0002178)
    Fold Change: -0.1942
    Cell Significance Index: -22.6300
  • Cell Name: pancreatic ductal cell (CL0002079)
    Fold Change: -0.2761
    Cell Significance Index: -31.6300
  • Cell Name: transit amplifying cell of colon (CL0009011)
    Fold Change: -0.3010
    Cell Significance Index: -9.6400
  • Cell Name: placental villous trophoblast (CL2000060)
    Fold Change: -0.3030
    Cell Significance Index: -8.0900
  • Cell Name: cardiac muscle myoblast (CL0000513)
    Fold Change: -0.3036
    Cell Significance Index: -23.3000
  • Cell Name: neuron associated cell (CL0000095)
    Fold Change: -0.3084
    Cell Significance Index: -12.6400
  • Cell Name: microfold cell of epithelium of small intestine (CL1000353)
    Fold Change: -0.3679
    Cell Significance Index: -25.4400
  • Cell Name: pro-T cell (CL0000827)
    Fold Change: -0.3813
    Cell Significance Index: -9.7400
  • Cell Name: kidney loop of Henle descending limb epithelial cell (CL1001021)
    Fold Change: -0.3903
    Cell Significance Index: -30.9100
  • Cell Name: paneth cell of epithelium of small intestine (CL1000343)
    Fold Change: -0.4076
    Cell Significance Index: -8.8300
  • Cell Name: pigmented ciliary epithelial cell (CL0002303)
    Fold Change: -0.4928
    Cell Significance Index: -71.6400
  • Cell Name: pancreatic endocrine cell (CL0008024)
    Fold Change: -0.4972
    Cell Significance Index: -56.7600
  • Cell Name: granulosa cell (CL0000501)
    Fold Change: -0.5956
    Cell Significance Index: -15.6600
  • Cell Name: forebrain neuroblast (CL1000042)
    Fold Change: -0.5999
    Cell Significance Index: -36.8700
  • Cell Name: conjunctival epithelial cell (CL1000432)
    Fold Change: -0.7146
    Cell Significance Index: -9.7500
  • Cell Name: smooth muscle cell of sphincter of pupil (CL0002243)
    Fold Change: -0.7414
    Cell Significance Index: -77.2000
  • Cell Name: CD4-positive, alpha-beta memory T cell, CD45RO-positive (CL0001204)
    Fold Change: -0.9129
    Cell Significance Index: -26.8100
  • Cell Name: intestinal epithelial cell (CL0002563)
    Fold Change: -0.9646
    Cell Significance Index: -9.9900
  • Cell Name: cortical cell of adrenal gland (CL0002097)
    Fold Change: -0.9785
    Cell Significance Index: -26.2200
  • Cell Name: retinal progenitor cell (CL0002672)
    Fold Change: -1.0266
    Cell Significance Index: -57.6100
  • Cell Name: intestinal crypt stem cell of small intestine (CL0009017)
    Fold Change: -1.1236
    Cell Significance Index: -23.9300
  • Cell Name: intestinal tuft cell (CL0019032)
    Fold Change: -1.2180
    Cell Significance Index: -74.6800
  • Cell Name: microcirculation associated smooth muscle cell (CL0008035)
    Fold Change: -1.2631
    Cell Significance Index: -10.6100
  • Cell Name: kidney epithelial cell (CL0002518)
    Fold Change: -1.3110
    Cell Significance Index: -38.6200
  • Cell Name: fibroblast of mammary gland (CL0002555)
    Fold Change: -1.3221
    Cell Significance Index: -37.9000
  • Cell Name: enteroendocrine cell of small intestine (CL0009006)
    Fold Change: -1.5010
    Cell Significance Index: -37.5200
  • Cell Name: vascular lymphangioblast (CL0005022)
    Fold Change: -1.5205
    Cell Significance Index: -26.8700
  • Cell Name: stratified epithelial cell (CL0000079)
    Fold Change: -1.6958
    Cell Significance Index: -62.2500
  • Cell Name: indirect pathway medium spiny neuron (CL4023029)
    Fold Change: -1.7105
    Cell Significance Index: -75.6600
  • Cell Name: retinal rod cell (CL0000604)
    Fold Change: -1.9370
    Cell Significance Index: -23.0900
  • Cell Name: skeletal muscle fiber (CL0008002)
    Fold Change: -1.9740
    Cell Significance Index: -50.7400
  • Cell Name: direct pathway medium spiny neuron (CL4023026)
    Fold Change: -2.0231
    Cell Significance Index: -76.6100
  • Cell Name: Hofbauer cell (CL3000001)
    Fold Change: -2.0431
    Cell Significance Index: -16.6600
  • Cell Name: keratinocyte (CL0000312)
    Fold Change: -2.0511
    Cell Significance Index: -51.2300
  • Cell Name: cerebral cortex neuron (CL0010012)
    Fold Change: -2.1357
    Cell Significance Index: -20.3200
  • Cell Name: CD4-positive, alpha-beta thymocyte (CL0000810)
    Fold Change: -2.1652
    Cell Significance Index: -37.3300

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:** 1. **Subunit of the BLOC-1 complex:** BLOC1S1 is a subunit of the BLOC-1 complex, a heterotrimeric complex composed of three subunits: BLOC1S1, BLOC1S2, and BLOC1S3. This complex plays a crucial role in the formation and maturation of lysosomes. 2. **Regulation of lysosome size:** BLOC1S1 is involved in the regulation of lysosome size, which is essential for maintaining cellular homeostasis and preventing lysosomal dysfunction. 3. **Association with other organelles:** BLOC1S1 is also associated with other organelles, such as the Golgi apparatus, endosomes, and mitochondria, indicating its involvement in complex cellular processes. **Pathways and Functions:** 1. **Lysosome biogenesis:** BLOC1S1 is essential for the biogenesis of lysosomes, which involves the formation and maturation of lysosomal membranes and the acquisition of lysosomal enzymes and other molecules. 2. **Regulation of endosomal size:** BLOC1S1 is involved in the regulation of endosomal size, which is critical for maintaining cellular homeostasis and preventing endosomal dysfunction. 3. **Anterograde and retrograde transport:** BLOC1S1 is also involved in anterograde and retrograde transport pathways, which are essential for the movement of molecules and organelles within the cell. 4. **Cellular digestion and degradation:** BLOC1S1 plays a critical role in cellular digestion and degradation of macromolecules, which is essential for maintaining cellular homeostasis and preventing disease. **Clinical Significance:** 1. **Lysosomal storage diseases:** Mutations in the BLOC1S1 gene have been associated with lysosomal storage diseases, such as lysosomal acid lipase deficiency and mucolipidosis type II. 2. **Immunological disorders:** BLOC1S1 is also involved in immunological disorders, such as autoimmune diseases and cancer, which may be related to dysregulation of lysosomal function. 3. **Cancer:** BLOC1S1 may play a role in cancer development and progression, as dysregulation of lysosomal function can contribute to cancer cell growth and survival. 4. **Neurological disorders:** BLOC1S1 may also be involved in neurological disorders, such as Parkinson's disease and Alzheimer's disease, which may be related to dysregulation of lysosomal function. In conclusion, BLOC1S1 is a critical gene involved in the biogenesis and regulation of lysosomes, and its dysregulation has been implicated in various human diseases. Further research is needed to fully understand the mechanisms of BLOC1S1 and its role in human disease, and to develop therapeutic strategies for the treatment of lysosomal storage diseases and other disorders associated with BLOC1S1 dysfunction.

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 Ensembl 1 ExpressionAtlas 1 GO 22 GeneCards 1 GeneTree 1 GeneWiki 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 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 SIGNOR 1 SMR 1 STRING 1 SignaLink 1 TreeFam 1 UCSC 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. 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.