Details for: BBS1

Gene ID: 582

Symbol: BBS1

Ensembl ID: ENSG00000174483

Description: Bardet-Biedl syndrome 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: kidney proximal convoluted tubule epithelial cell (CL1000838)
    Fold Change: 2.15
    Marker Score: 4443.5
  • Cell Name: colon goblet cell (CL0009039)
    Fold Change: 1.6
    Marker Score: 1160
  • Cell Name: corticothalamic-projecting glutamatergic cortical neuron (CL4023013)
    Fold Change: 1.36
    Marker Score: 12915
  • Cell Name: L5 extratelencephalic projecting glutamatergic cortical neuron (CL4023041)
    Fold Change: 1.34
    Marker Score: 2072
  • Cell Name: near-projecting glutamatergic cortical neuron (CL4023012)
    Fold Change: 1.34
    Marker Score: 12610
  • Cell Name: L6b glutamatergic cortical neuron (CL4023038)
    Fold Change: 1.31
    Marker Score: 11267
  • Cell Name: pvalb GABAergic cortical interneuron (CL4023018)
    Fold Change: 1.3
    Marker Score: 48059
  • Cell Name: L2/3-6 intratelencephalic projecting glutamatergic neuron (CL4023040)
    Fold Change: 1.29
    Marker Score: 79513
  • Cell Name: caudal ganglionic eminence derived GABAergic cortical interneuron (CL4023070)
    Fold Change: 1.16
    Marker Score: 4501
  • Cell Name: sst GABAergic cortical interneuron (CL4023017)
    Fold Change: 1.14
    Marker Score: 22590
  • Cell Name: vip GABAergic cortical interneuron (CL4023016)
    Fold Change: 1.13
    Marker Score: 43038
  • Cell Name: chandelier pvalb GABAergic cortical interneuron (CL4023036)
    Fold Change: 1.13
    Marker Score: 4680
  • Cell Name: early T lineage precursor (CL0002425)
    Fold Change: 1.03
    Marker Score: 788
  • Cell Name: sncg GABAergic cortical interneuron (CL4023015)
    Fold Change: 1.02
    Marker Score: 7822
  • Cell Name: cerebral cortex GABAergic interneuron (CL0010011)
    Fold Change: 1
    Marker Score: 71815
  • Cell Name: forebrain radial glial cell (CL0013000)
    Fold Change: 1
    Marker Score: 48040
  • Cell Name: absorptive cell (CL0000212)
    Fold Change: 0.98
    Marker Score: 30407
  • Cell Name: tuft cell of colon (CL0009041)
    Fold Change: 0.97
    Marker Score: 501
  • Cell Name: astrocyte of the cerebral cortex (CL0002605)
    Fold Change: 0.97
    Marker Score: 20725
  • Cell Name: lamp5 GABAergic cortical interneuron (CL4023011)
    Fold Change: 0.96
    Marker Score: 14400
  • Cell Name: BEST4+ intestinal epithelial cell, human (CL4030026)
    Fold Change: 0.96
    Marker Score: 454
  • Cell Name: intestinal crypt stem cell of colon (CL0009043)
    Fold Change: 0.95
    Marker Score: 2412
  • Cell Name: intestinal crypt stem cell of small intestine (CL0009017)
    Fold Change: 0.95
    Marker Score: 640
  • Cell Name: transit amplifying cell (CL0009010)
    Fold Change: 0.93
    Marker Score: 5315
  • Cell Name: CD16-positive, CD56-dim natural killer cell, human (CL0000939)
    Fold Change: 0.93
    Marker Score: 718
  • Cell Name: abnormal cell (CL0001061)
    Fold Change: 0.91
    Marker Score: 2736
  • Cell Name: OFF retinal ganglion cell (CL4023033)
    Fold Change: 0.89
    Marker Score: 374
  • Cell Name: epithelial cell of small intestine (CL0002254)
    Fold Change: 0.89
    Marker Score: 319
  • Cell Name: neoplastic cell (CL0001063)
    Fold Change: 0.87
    Marker Score: 5291
  • Cell Name: intestinal epithelial cell (CL0002563)
    Fold Change: 0.77
    Marker Score: 1255
  • Cell Name: Cajal-Retzius cell (CL0000695)
    Fold Change: 0.75
    Marker Score: 389
  • Cell Name: neuron (CL0000540)
    Fold Change: 0.75
    Marker Score: 3055
  • Cell Name: brush cell (CL0002204)
    Fold Change: 0.74
    Marker Score: 676
  • Cell Name: enterocyte of epithelium of small intestine (CL1000334)
    Fold Change: 0.72
    Marker Score: 3019
  • Cell Name: ON retinal ganglion cell (CL4023032)
    Fold Change: 0.71
    Marker Score: 194
  • Cell Name: A2 amacrine cell (CL0004219)
    Fold Change: 0.71
    Marker Score: 225
  • Cell Name: vascular leptomeningeal cell (CL4023051)
    Fold Change: 0.7
    Marker Score: 810
  • Cell Name: small intestine goblet cell (CL1000495)
    Fold Change: 0.7
    Marker Score: 281
  • Cell Name: pulmonary interstitial fibroblast (CL0002241)
    Fold Change: 0.7
    Marker Score: 561
  • Cell Name: neutrophil progenitor cell (CL0000834)
    Fold Change: 0.67
    Marker Score: 172
  • Cell Name: cardiac muscle myoblast (CL0000513)
    Fold Change: 0.64
    Marker Score: 10013
  • Cell Name: mesangial cell (CL0000650)
    Fold Change: 0.61
    Marker Score: 742
  • Cell Name: intestinal enteroendocrine cell (CL1001516)
    Fold Change: 0.56
    Marker Score: 444
  • Cell Name: gut absorptive cell (CL0000677)
    Fold Change: 0.54
    Marker Score: 345
  • Cell Name: type A enteroendocrine cell (CL0002067)
    Fold Change: 0.49
    Marker Score: 196
  • Cell Name: astrocyte (CL0000127)
    Fold Change: 0.48
    Marker Score: 418
  • Cell Name: Purkinje cell (CL0000121)
    Fold Change: 0.47
    Marker Score: 15808
  • Cell Name: taste receptor cell (CL0000209)
    Fold Change: 0.47
    Marker Score: 403
  • Cell Name: tracheal goblet cell (CL1000329)
    Fold Change: 0.45
    Marker Score: 1268
  • Cell Name: cardiac endothelial cell (CL0010008)
    Fold Change: 0.45
    Marker Score: 846.5
  • Cell Name: kidney proximal straight tubule epithelial cell (CL1000839)
    Fold Change: 0.44
    Marker Score: 1033
  • Cell Name: renal principal cell (CL0005009)
    Fold Change: 0.42
    Marker Score: 322
  • Cell Name: immature innate lymphoid cell (CL0001082)
    Fold Change: 0.38
    Marker Score: 777
  • Cell Name: germ cell (CL0000586)
    Fold Change: 0.37
    Marker Score: 641
  • Cell Name: cerebral cortex endothelial cell (CL1001602)
    Fold Change: 0.37
    Marker Score: 219
  • Cell Name: CD8-positive, alpha-beta thymocyte (CL0000811)
    Fold Change: 0.36
    Marker Score: 201
  • Cell Name: renal alpha-intercalated cell (CL0005011)
    Fold Change: 0.35
    Marker Score: 187
  • Cell Name: respiratory epithelial cell (CL0002368)
    Fold Change: 0.34
    Marker Score: 188
  • Cell Name: cortical cell of adrenal gland (CL0002097)
    Fold Change: 0.34
    Marker Score: 5963
  • Cell Name: lung ciliated cell (CL1000271)
    Fold Change: 0.33
    Marker Score: 156
  • Cell Name: precursor B cell (CL0000817)
    Fold Change: 0.33
    Marker Score: 215.5
  • Cell Name: transit amplifying cell of small intestine (CL0009012)
    Fold Change: 0.33
    Marker Score: 135
  • Cell Name: neuronal brush cell (CL0000555)
    Fold Change: 0.31
    Marker Score: 1033
  • Cell Name: type B pancreatic cell (CL0000169)
    Fold Change: 0.31
    Marker Score: 305
  • Cell Name: dopaminergic neuron (CL0000700)
    Fold Change: 0.3
    Marker Score: 3049
  • Cell Name: stellate neuron (CL0000122)
    Fold Change: 0.29
    Marker Score: 1564
  • Cell Name: oligodendrocyte precursor cell (CL0002453)
    Fold Change: 0.28
    Marker Score: 352
  • Cell Name: primitive red blood cell (CL0002355)
    Fold Change: 0.28
    Marker Score: 211
  • Cell Name: parietal epithelial cell (CL1000452)
    Fold Change: 0.28
    Marker Score: 102
  • Cell Name: oligodendrocyte (CL0000128)
    Fold Change: 0.27
    Marker Score: 636
  • Cell Name: CD34-positive, CD38-negative hematopoietic stem cell (CL0001024)
    Fold Change: 0.27
    Marker Score: 192
  • Cell Name: epithelial cell of lower respiratory tract (CL0002632)
    Fold Change: 0.26
    Marker Score: 1089
  • Cell Name: kidney capillary endothelial cell (CL1000892)
    Fold Change: 0.26
    Marker Score: 81
  • Cell Name: photoreceptor cell (CL0000210)
    Fold Change: 0.25
    Marker Score: 185
  • Cell Name: macroglial cell (CL0000126)
    Fold Change: 0.24
    Marker Score: 560
  • Cell Name: lymphoid lineage restricted progenitor cell (CL0000838)
    Fold Change: 0.24
    Marker Score: 146
  • Cell Name: myoepithelial cell of mammary gland (CL0002324)
    Fold Change: 0.24
    Marker Score: 1190
  • Cell Name: enterocyte of colon (CL1000347)
    Fold Change: 0.24
    Marker Score: 369
  • Cell Name: microglial cell (CL0000129)
    Fold Change: 0.24
    Marker Score: 430
  • Cell Name: alveolar type 2 fibroblast cell (CL4028006)
    Fold Change: 0.23
    Marker Score: 130
  • Cell Name: granule cell (CL0000120)
    Fold Change: 0.23
    Marker Score: 1745
  • Cell Name: granulosa cell (CL0000501)
    Fold Change: 0.23
    Marker Score: 2313.5
  • Cell Name: mononuclear cell (CL0000842)
    Fold Change: 0.23
    Marker Score: 73
  • Cell Name: CD4-positive, alpha-beta thymocyte (CL0000810)
    Fold Change: 0.23
    Marker Score: 126
  • Cell Name: ciliated columnar cell of tracheobronchial tree (CL0002145)
    Fold Change: 0.23
    Marker Score: 1961
  • Cell Name: podocyte (CL0000653)
    Fold Change: 0.22
    Marker Score: 83
  • Cell Name: common myeloid progenitor (CL0000049)
    Fold Change: 0.22
    Marker Score: 59
  • Cell Name: enteroendocrine cell of small intestine (CL0009006)
    Fold Change: 0.22
    Marker Score: 62
  • Cell Name: smooth muscle myoblast (CL0000514)
    Fold Change: 0.21
    Marker Score: 101
  • Cell Name: enteroendocrine cell of colon (CL0009042)
    Fold Change: 0.21
    Marker Score: 70
  • Cell Name: IgG plasma cell (CL0000985)
    Fold Change: 0.21
    Marker Score: 90
  • Cell Name: pancreatic A cell (CL0000171)
    Fold Change: 0.2
    Marker Score: 200
  • Cell Name: intestinal tuft cell (CL0019032)
    Fold Change: 0.2
    Marker Score: 64
  • Cell Name: CD8-positive, alpha-beta cytotoxic T cell (CL0000794)
    Fold Change: 0.2
    Marker Score: 178
  • Cell Name: CD14-positive monocyte (CL0001054)
    Fold Change: 0.2
    Marker Score: 500
  • Cell Name: hematopoietic precursor cell (CL0008001)
    Fold Change: 0.2
    Marker Score: 70
  • Cell Name: goblet cell (CL0000160)
    Fold Change: 0.2
    Marker Score: 1323
  • Cell Name: interstitial cell of ovary (CL0002094)
    Fold Change: 0.2
    Marker Score: 1293
  • Cell Name: lung goblet cell (CL1000143)
    Fold Change: 0.2
    Marker Score: 57
  • Cell Name: oogonial cell (CL0000024)
    Fold Change: 0.2
    Marker Score: 281

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Other Information

**Key characteristics:** * BBS1 is a transmembrane protein with a molecular weight of approximately 140 kDa. * It is a member of the Bardet-Biedl syndrome (BBS) protein family, which are involved in maintaining the structural integrity and function of the cilium. * BBS1 is a key regulator of cilium assembly, migration, and function. * It interacts with various proteins involved in the assembly and maintenance of the cilium, including SMN1, SMN2, and BBS2. * Mutations in the BBS1 gene have been linked to the cause of BBS, a genetic disorder characterized by developmental and neurological abnormalities. **Pathways and functions:** * BBS1 plays a crucial role in the biogenesis and maintenance of the cilium. * It is involved in the trafficking of cargo molecules to the cilium, including organelles, proteins, and signaling molecules. * It also regulates the assembly and disassembly of the cilium. * In addition to its role in cilium biogenesis, BBS1 is involved in other cellular processes, including organelle biogenesis, neuronal migration, and sensory perception. **Clinical significance:** * Mutations in the BBS1 gene have been linked to the cause of BBS, a genetic disorder characterized by developmental and neurological abnormalities. * Understanding the role of BBS1 in cilium biogenesis and function has important implications for the development of therapeutic strategies for BBS. * Targeting BBS1 signaling has been explored as a potential therapeutic approach to treat the symptoms of BBS. **Additional notes:** * The BBS1 gene is also known as ITGA13. * It is expressed in high levels in the kidney, colon, and central nervous system. * Mutations in the BBS1 gene have been shown to be associated with a variety of human diseases, including intellectual disability, developmental abnormalities, and neurological symptoms.

Genular Protein ID: 534285564

Symbol: BBS1_HUMAN

Name: Bardet-Biedl syndrome 1 protein

UniProtKB Accession Codes:

Q8NFJ9 Q32MM9 Q32MN0 Q96SN4

Database IDs:

AGR 1 AlphaFoldDB 1 Antibodypedia 1 Bgee 1 BioGRID 1 BioGRID-ORCS 1 BioMuta 1 CCDS 1 CORUM 1 CTD 1 ChiTaRS 1 ComplexPortal 1 DIP 1 DMDM 1 DNASU 1 DisGeNET 1 EMBL 5 EMDB 1 EPD 1 Ensembl 2 ExpressionAtlas 1 GO 36 GeneCards 1 GeneReviews 1 GeneTree 1 GeneWiki 1 Genevisible 1 GenomeRNAi 1 HGNC 1 HOGENOM 1 HPA 1 InParanoid 1 IntAct 1 InterPro 3 KEGG 1 MANE-Select 1 MIM 3 MalaCards 1 MassIVE 1 MaxQB 1 NCBI Taxonomy 1 OMA 1 OpenTargets 2 Orphanet 2 OrthoDB 1 PANTHER 2 PDB 1 PDBsum 1 PRO 1 PathwayCommons 1 PaxDb 1 PeptideAtlas 1 Pfam 1 PharmGKB 1 Pharos 1 PhosphoSitePlus 1 PhylomeDB 1 Proteomes 1 ProteomicsDB 3 Pumba 1 RNAct 1 Reactome 1 RefSeq 1 SIGNOR 1 SMR 1 STRING 1 SUPFAM 1 SignaLink 1 TCDB 1 TreeFam 1 UCSC 1 UniProtKB 1 VEuPathDB 1 eggNOG 1 iPTMnet 1 jPOST 1 neXtProt 1

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. For the full schema, download it here.