Details for: BBS1

Gene ID: 582

Symbol: BBS1

Ensembl ID: ENSG00000174483

Description: Bardet-Biedl syndrome 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: 74.3514
    Cell Significance Index: -11.5700
  • Cell Name: hematopoietic oligopotent progenitor cell (CL0002032)
    Fold Change: 45.0238
    Cell Significance Index: -11.4200
  • Cell Name: smooth muscle fiber of ileum (CL1000278)
    Fold Change: 22.5789
    Cell Significance Index: -10.6600
  • Cell Name: orthochromatic erythroblast (CL0000552)
    Fold Change: 9.4205
    Cell Significance Index: -11.6200
  • Cell Name: CD8-alpha-beta-positive, alpha-beta intraepithelial T cell (CL0000796)
    Fold Change: 3.5985
    Cell Significance Index: -9.6400
  • Cell Name: stromal cell of bone marrow (CL0010001)
    Fold Change: 2.9561
    Cell Significance Index: -11.6700
  • Cell Name: enteroendocrine cell of colon (CL0009042)
    Fold Change: 2.0330
    Cell Significance Index: 386.8900
  • Cell Name: L2/3-6 intratelencephalic projecting glutamatergic neuron (CL4023040)
    Fold Change: 1.1903
    Cell Significance Index: 238.7800
  • Cell Name: Purkinje cell (CL0000121)
    Fold Change: 0.7821
    Cell Significance Index: 17.1300
  • Cell Name: cardiac muscle myoblast (CL0000513)
    Fold Change: 0.7381
    Cell Significance Index: 56.6400
  • Cell Name: cortical interneuron (CL0008031)
    Fold Change: 0.7099
    Cell Significance Index: 17.0300
  • Cell Name: obsolete caudal ganglionic eminence derived GABAergic cortical interneuron (CL4023070)
    Fold Change: 0.6121
    Cell Significance Index: 219.5600
  • Cell Name: indirect pathway medium spiny neuron (CL4023029)
    Fold Change: 0.5957
    Cell Significance Index: 26.3500
  • Cell Name: direct pathway medium spiny neuron (CL4023026)
    Fold Change: 0.5752
    Cell Significance Index: 21.7800
  • Cell Name: cortical cell of adrenal gland (CL0002097)
    Fold Change: 0.5604
    Cell Significance Index: 15.0200
  • Cell Name: gut absorptive cell (CL0000677)
    Fold Change: 0.5289
    Cell Significance Index: 31.7500
  • Cell Name: forebrain neuroblast (CL1000042)
    Fold Change: 0.4967
    Cell Significance Index: 30.5300
  • Cell Name: intermediate cell of urothelium (CL4030055)
    Fold Change: 0.4634
    Cell Significance Index: 83.5400
  • Cell Name: fibro/adipogenic progenitor cell (CL0009099)
    Fold Change: 0.4071
    Cell Significance Index: 20.5700
  • Cell Name: colon goblet cell (CL0009039)
    Fold Change: 0.3923
    Cell Significance Index: 38.8100
  • Cell Name: retinal progenitor cell (CL0002672)
    Fold Change: 0.3530
    Cell Significance Index: 19.8100
  • Cell Name: intestinal crypt stem cell of colon (CL0009043)
    Fold Change: 0.3414
    Cell Significance Index: 37.1300
  • Cell Name: eye photoreceptor cell (CL0000287)
    Fold Change: 0.3353
    Cell Significance Index: 21.1300
  • Cell Name: tuft cell of colon (CL0009041)
    Fold Change: 0.3268
    Cell Significance Index: 295.1200
  • Cell Name: basal cell of urothelium (CL1000486)
    Fold Change: 0.2781
    Cell Significance Index: 34.1900
  • Cell Name: epithelial cell of small intestine (CL0002254)
    Fold Change: 0.2091
    Cell Significance Index: 34.0100
  • Cell Name: enterocyte of epithelium of small intestine (CL1000334)
    Fold Change: 0.2034
    Cell Significance Index: 5.8600
  • Cell Name: enteroendocrine cell of small intestine (CL0009006)
    Fold Change: 0.1776
    Cell Significance Index: 4.4400
  • Cell Name: dopaminergic neuron (CL0000700)
    Fold Change: 0.1734
    Cell Significance Index: 49.8800
  • Cell Name: paneth cell of epithelium of small intestine (CL1000343)
    Fold Change: 0.1710
    Cell Significance Index: 3.7100
  • Cell Name: peg cell (CL4033014)
    Fold Change: 0.1593
    Cell Significance Index: 3.6800
  • Cell Name: umbrella cell of urothelium (CL4030056)
    Fold Change: 0.1569
    Cell Significance Index: 1.4500
  • Cell Name: microfold cell of epithelium of small intestine (CL1000353)
    Fold Change: 0.1487
    Cell Significance Index: 10.2900
  • Cell Name: GABAergic amacrine cell (CL4030027)
    Fold Change: 0.1072
    Cell Significance Index: 1.3300
  • Cell Name: enterocyte of epithelium of large intestine (CL0002071)
    Fold Change: 0.1026
    Cell Significance Index: 4.6500
  • Cell Name: odontoblast (CL0000060)
    Fold Change: 0.0498
    Cell Significance Index: 6.3900
  • Cell Name: small intestine goblet cell (CL1000495)
    Fold Change: 0.0236
    Cell Significance Index: 0.8300
  • Cell Name: stromal cell of ovary (CL0002132)
    Fold Change: 0.0147
    Cell Significance Index: 2.0200
  • Cell Name: cell in vitro (CL0001034)
    Fold Change: 0.0062
    Cell Significance Index: 3.3900
  • Cell Name: epithelial cell of stomach (CL0002178)
    Fold Change: 0.0013
    Cell Significance Index: 0.1500
  • Cell Name: pigmented epithelial cell (CL0000529)
    Fold Change: -0.0049
    Cell Significance Index: -9.3200
  • Cell Name: anterior lens cell (CL0002223)
    Fold Change: -0.0056
    Cell Significance Index: -10.3400
  • Cell Name: lens epithelial cell (CL0002224)
    Fold Change: -0.0069
    Cell Significance Index: -10.6300
  • Cell Name: secondary lens fiber (CL0002225)
    Fold Change: -0.0088
    Cell Significance Index: -12.0000
  • Cell Name: pancreatic A cell (CL0000171)
    Fold Change: -0.0106
    Cell Significance Index: -7.8500
  • Cell Name: kidney loop of Henle cortical thick ascending limb epithelial cell (CL1001109)
    Fold Change: -0.0112
    Cell Significance Index: -8.2400
  • Cell Name: hair follicular keratinocyte (CL2000092)
    Fold Change: -0.0128
    Cell Significance Index: -5.6400
  • Cell Name: thymocyte (CL0000893)
    Fold Change: -0.0131
    Cell Significance Index: -0.1600
  • Cell Name: pulmonary alveolar epithelial cell (CL0000322)
    Fold Change: -0.0140
    Cell Significance Index: -10.6200
  • Cell Name: eukaryotic cell (CL0000255)
    Fold Change: -0.0145
    Cell Significance Index: -0.6300
  • Cell Name: non-pigmented ciliary epithelial cell (CL0002304)
    Fold Change: -0.0153
    Cell Significance Index: -9.6900
  • Cell Name: type B pancreatic cell (CL0000169)
    Fold Change: -0.0165
    Cell Significance Index: -9.3000
  • Cell Name: pancreatic PP cell (CL0002275)
    Fold Change: -0.0186
    Cell Significance Index: -11.6100
  • Cell Name: ciliary muscle cell (CL1000443)
    Fold Change: -0.0225
    Cell Significance Index: -10.2000
  • Cell Name: luminal adaptive secretory precursor cell of mammary gland (CL4033057)
    Fold Change: -0.0257
    Cell Significance Index: -1.2100
  • Cell Name: pvalb GABAergic cortical interneuron (CL4023018)
    Fold Change: -0.0283
    Cell Significance Index: -0.6000
  • Cell Name: transit amplifying cell of small intestine (CL0009012)
    Fold Change: -0.0301
    Cell Significance Index: -0.6300
  • Cell Name: pancreatic ductal cell (CL0002079)
    Fold Change: -0.0418
    Cell Significance Index: -4.7900
  • Cell Name: tonsil germinal center B cell (CL2000006)
    Fold Change: -0.0472
    Cell Significance Index: -5.5700
  • Cell Name: pancreatic D cell (CL0000173)
    Fold Change: -0.0527
    Cell Significance Index: -11.1100
  • Cell Name: acinar cell of salivary gland (CL0002623)
    Fold Change: -0.0528
    Cell Significance Index: -2.4600
  • Cell Name: pancreatic acinar cell (CL0002064)
    Fold Change: -0.0573
    Cell Significance Index: -9.7800
  • Cell Name: abnormal cell (CL0001061)
    Fold Change: -0.0632
    Cell Significance Index: -6.4600
  • Cell Name: pigmented ciliary epithelial cell (CL0002303)
    Fold Change: -0.0640
    Cell Significance Index: -9.3000
  • Cell Name: lactocyte (CL0002325)
    Fold Change: -0.0641
    Cell Significance Index: -8.2900
  • Cell Name: sst GABAergic cortical interneuron (CL4023017)
    Fold Change: -0.0678
    Cell Significance Index: -1.3400
  • Cell Name: intestinal crypt stem cell of small intestine (CL0009017)
    Fold Change: -0.0681
    Cell Significance Index: -1.4500
  • Cell Name: radial glial cell (CL0000681)
    Fold Change: -0.0682
    Cell Significance Index: -0.4100
  • Cell Name: OFF midget ganglion cell (CL4033047)
    Fold Change: -0.0730
    Cell Significance Index: -0.9100
  • Cell Name: glioblast (CL0000030)
    Fold Change: -0.0748
    Cell Significance Index: -0.4700
  • Cell Name: L6b glutamatergic cortical neuron (CL4023038)
    Fold Change: -0.0825
    Cell Significance Index: -2.7000
  • Cell Name: basal cell of prostate epithelium (CL0002341)
    Fold Change: -0.0830
    Cell Significance Index: -2.2600
  • Cell Name: placental villous trophoblast (CL2000060)
    Fold Change: -0.0921
    Cell Significance Index: -2.4600
  • Cell Name: corticothalamic-projecting glutamatergic cortical neuron (CL4023013)
    Fold Change: -0.0958
    Cell Significance Index: -3.0500
  • Cell Name: bladder urothelial cell (CL1001428)
    Fold Change: -0.0988
    Cell Significance Index: -5.1300
  • Cell Name: astrocyte of the cerebral cortex (CL0002605)
    Fold Change: -0.1029
    Cell Significance Index: -1.7800
  • Cell Name: progenitor cell of mammary luminal epithelium (CL0009116)
    Fold Change: -0.1055
    Cell Significance Index: -7.8600
  • Cell Name: VIP GABAergic cortical interneuron (CL4023016)
    Fold Change: -0.1081
    Cell Significance Index: -2.1700
  • Cell Name: retinal rod cell (CL0000604)
    Fold Change: -0.1099
    Cell Significance Index: -1.3100
  • Cell Name: transit amplifying cell of colon (CL0009011)
    Fold Change: -0.1102
    Cell Significance Index: -3.5300
  • Cell Name: intestinal tuft cell (CL0019032)
    Fold Change: -0.1130
    Cell Significance Index: -6.9300
  • Cell Name: smooth muscle cell of sphincter of pupil (CL0002243)
    Fold Change: -0.1135
    Cell Significance Index: -11.8200
  • Cell Name: early pro-B cell (CL0002046)
    Fold Change: -0.1155
    Cell Significance Index: -7.4500
  • Cell Name: kidney loop of Henle descending limb epithelial cell (CL1001021)
    Fold Change: -0.1250
    Cell Significance Index: -9.9000
  • Cell Name: ON midget ganglion cell (CL4033046)
    Fold Change: -0.1291
    Cell Significance Index: -1.6300
  • Cell Name: BEST4+ enteroycte (CL4030026)
    Fold Change: -0.1400
    Cell Significance Index: -2.1100
  • Cell Name: sebum secreting cell (CL0000317)
    Fold Change: -0.1427
    Cell Significance Index: -10.0900
  • Cell Name: chandelier pvalb GABAergic cortical interneuron (CL4023036)
    Fold Change: -0.1478
    Cell Significance Index: -3.0900
  • Cell Name: near-projecting glutamatergic cortical neuron (CL4023012)
    Fold Change: -0.1491
    Cell Significance Index: -3.7200
  • Cell Name: medial ganglionic eminence derived interneuron (CL4023063)
    Fold Change: -0.1505
    Cell Significance Index: -2.1600
  • Cell Name: granulosa cell (CL0000501)
    Fold Change: -0.1574
    Cell Significance Index: -4.1400
  • Cell Name: L5 extratelencephalic projecting glutamatergic cortical neuron (CL4023041)
    Fold Change: -0.1584
    Cell Significance Index: -5.5500
  • Cell Name: lamp5 GABAergic cortical interneuron (CL4023011)
    Fold Change: -0.1652
    Cell Significance Index: -3.5700
  • Cell Name: glycinergic neuron (CL1001509)
    Fold Change: -0.1687
    Cell Significance Index: -8.8600
  • Cell Name: midget ganglion cell of retina (CL4023188)
    Fold Change: -0.1709
    Cell Significance Index: -1.7800
  • Cell Name: neuron (CL0000540)
    Fold Change: -0.1751
    Cell Significance Index: -1.6600
  • Cell Name: fibroblast of mammary gland (CL0002555)
    Fold Change: -0.1774
    Cell Significance Index: -5.0900
  • Cell Name: mesonephric nephron tubule epithelial cell (CL1000022)
    Fold Change: -0.2364
    Cell Significance Index: -8.2200
  • Cell Name: leptomeningeal cell (CL0000708)
    Fold Change: -0.2398
    Cell Significance Index: -5.1300
  • Cell Name: CD4-positive, alpha-beta memory T cell, CD45RO-positive (CL0001204)
    Fold Change: -0.2605
    Cell Significance Index: -7.6500

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:** The BBS1 gene is a single-copy gene located on chromosome 9q21-q22. It encodes a 1,341-amino acid protein that is highly expressed in various tissues, including the kidney, colon, and brain. The BBS1 protein is a member of the BBSome complex, which is a multiprotein complex that regulates the trafficking of cargo to cilia. The BBS1 protein is also involved in regulating the structure and function of cilia, including the assembly of axonemes and the maintenance of ciliary membrane proteins. **Pathways and Functions:** The BBS1 gene is involved in several key pathways, including: 1. **Ciliary function:** The BBS1 protein regulates the beat frequency of cilia, which is essential for maintaining proper cellular function and preventing disease. 2. **Cargo trafficking:** The BBSome complex, which includes the BBS1 protein, regulates the trafficking of cargo to cilia, including proteins and lipids. 3. **Cellular lipid metabolism:** The BBS1 protein is involved in regulating the metabolism of lipids in cells, which is essential for maintaining proper cellular function. 4. **Neuronal development:** The BBS1 protein is involved in regulating the development and function of neurons, including the regulation of axoneme assembly and ciliary membrane protein expression. **Clinical Significance:** Mutations in the BBS1 gene have been linked to Bardet-Biedl syndrome, a rare genetic disorder characterized by a range of symptoms including: 1. **Obesity:** Mutations in the BBS1 gene can lead to obesity, which is a major risk factor for developing type 2 diabetes and cardiovascular disease. 2. **Intellectual disability:** Mutations in the BBS1 gene can lead to intellectual disability, which can affect cognitive function and behavior. 3. **Renal anomalies:** Mutations in the BBS1 gene can lead to renal anomalies, including polycystic kidney disease and renal failure. 4. **Visual impairment:** Mutations in the BBS1 gene can lead to visual impairment, including retinitis pigmentosa and blindness. In addition to its role in Bardet-Biedl syndrome, the BBS1 gene has also been implicated in other diseases, including: 1. **Ciliopathies:** Mutations in the BBS1 gene have been linked to other ciliopathies, including polycystic kidney disease and primary ciliary dyskinesia. 2. **Neurological disorders:** Mutations in the BBS1 gene have been implicated in neurological disorders, including autism and schizophrenia. Overall, the BBS1 gene plays a critical role in regulating ciliary function and cargo trafficking, and mutations in the gene have been linked to a range of diseases, including Bardet-Biedl syndrome and other ciliopathies.

Genular Protein ID: 534285564

Symbol: BBS1_HUMAN

Name: BBS2-like protein 2

UniProtKB Accession Codes:

Database IDs:

Citations:

PubMed ID: 12118255

Title: Identification of the gene (BBS1) most commonly involved in Bardet-Biedl syndrome, a complex human obesity syndrome.

PubMed ID: 12118255

DOI: 10.1038/ng935

PubMed ID: 14702039

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

PubMed ID: 14702039

DOI: 10.1038/ng1285

PubMed ID: 16554811

Title: Human chromosome 11 DNA sequence and analysis including novel gene identification.

PubMed ID: 16554811

DOI: 10.1038/nature04632

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: 16327777

Title: Dissection of epistasis in oligogenic Bardet-Biedl syndrome.

PubMed ID: 16327777

DOI: 10.1038/nature04370

PubMed ID: 17574030

Title: A core complex of BBS proteins cooperates with the GTPase Rab8 to promote ciliary membrane biogenesis.

PubMed ID: 17574030

DOI: 10.1016/j.cell.2007.03.053

PubMed ID: 18000879

Title: Novel interaction partners of Bardet-Biedl syndrome proteins.

PubMed ID: 18000879

DOI: 10.1002/cm.20250

PubMed ID: 19413330

Title: Lys-N and trypsin cover complementary parts of the phosphoproteome in a refined SCX-based approach.

PubMed ID: 19413330

DOI: 10.1021/ac9004309

PubMed ID: 22072986

Title: A novel protein LZTFL1 regulates ciliary trafficking of the BBSome and Smoothened.

PubMed ID: 22072986

DOI: 10.1371/journal.pgen.1002358

PubMed ID: 24939912

Title: Bardet-Biedl syndrome proteins 1 and 3 regulate the ciliary trafficking of polycystic kidney disease 1 protein.

PubMed ID: 24939912

DOI: 10.1093/hmg/ddu267

PubMed ID: 12524598

Title: Evaluation of complex inheritance involving the most common Bardet-Biedl syndrome locus (BBS1).

PubMed ID: 12524598

DOI: 10.1086/346172

PubMed ID: 12567324

Title: Identification of a novel Bardet-Biedl syndrome protein, BBS7, that shares structural features with BBS1 and BBS2.

PubMed ID: 12567324

DOI: 10.1086/368204

PubMed ID: 12677556

Title: Genetic interaction of BBS1 mutations with alleles at other BBS loci can result in non-Mendelian Bardet-Biedl syndrome.

PubMed ID: 12677556

DOI: 10.1086/375178

PubMed ID: 12920096

Title: Further support for digenic inheritance in Bardet-Biedl syndrome.

PubMed ID: 12920096

DOI: 10.1136/jmg.40.8.e104

PubMed ID: 15770229

Title: Testing for triallelism: analysis of six BBS genes in a Bardet-Biedl syndrome family cohort.

PubMed ID: 15770229

DOI: 10.1038/sj.ejhg.5201372

PubMed ID: 21052717

Title: Mutation analysis in Bardet-Biedl syndrome by DNA pooling and massively parallel resequencing in 105 individuals.

PubMed ID: 21052717

DOI: 10.1007/s00439-010-0902-8

PubMed ID: 21258341

Title: TTC21B contributes both causal and modifying alleles across the ciliopathy spectrum.

PubMed ID: 21258341

DOI: 10.1038/ng.756

PubMed ID: 21344540

Title: BBS genotype-phenotype assessment of a multiethnic patient cohort calls for a revision of the disease definition.

PubMed ID: 21344540

DOI: 10.1002/humu.21480

Sequence Information:

  • Length: 593
  • Mass: 65083
  • Checksum: 94C0C05667FE582D
  • Sequence:
  • MAAASSSDSD ACGAESNEAN SKWLDAHYDP MANIHTFSAC LALADLHGDG EYKLVVGDLG 
    PGGQQPRLKV LKGPLVMTES PLPALPAAAA TFLMEQHEPR TPALALASGP CVYVYKNLRP 
    YFKFSLPQLP PNPLEQDLWN QAKEDRIDPL TLKEMLESIR ETAEEPLSIQ SLRFLQLELS 
    EMEAFVNQHK SNSIKRQTVI TTMTTLKKNL ADEDAVSCLV LGTENKELLV LDPEAFTILA 
    KMSLPSVPVF LEVSGQFDVE FRLAAACRNG NIYILRRDSK HPKYCIELSA QPVGLIRVHK 
    VLVVGSTQDS LHGFTHKGKK LWTVQMPAAI LTMNLLEQHS RGLQAVMAGL ANGEVRIYRD 
    KALLNVIHTP DAVTSLCFGR YGREDNTLIM TTRGGGLIIK ILKRTAVFVE GGSEVGPPPA 
    QAMKLNVPRK TRLYVDQTLR EREAGTAMHR AFQTDLYLLR LRAARAYLQA LESSLSPLST 
    TAREPLKLHA VVQGLGPTFK LTLHLQNTST TRPVLGLLVC FLYNEALYSL PRAFFKVPLL 
    VPGLNYPLET FVESLSNKGI SDIIKVLVLR EGQSAPLLSA HVNMPGSEGL AAA

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.