Details for: MKKS
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: 125.1726
Cell Significance Index: -19.4700 - Cell Name: hematopoietic oligopotent progenitor cell (CL0002032)
Fold Change: 87.0711
Cell Significance Index: -22.0900 - Cell Name: embryonic stem cell (CL0002322)
Fold Change: 72.2422
Cell Significance Index: -29.7600 - Cell Name: mucosal type mast cell (CL0000485)
Fold Change: 63.3835
Cell Significance Index: -25.7500 - Cell Name: smooth muscle fiber of ileum (CL1000278)
Fold Change: 62.8438
Cell Significance Index: -29.6700 - Cell Name: ileal goblet cell (CL1000326)
Fold Change: 44.5440
Cell Significance Index: -29.8900 - Cell Name: ciliated cell of the bronchus (CL0002332)
Fold Change: 27.4262
Cell Significance Index: -26.1900 - Cell Name: orthochromatic erythroblast (CL0000552)
Fold Change: 21.2416
Cell Significance Index: -26.1900 - Cell Name: CD8-alpha-beta-positive, alpha-beta intraepithelial T cell (CL0000796)
Fold Change: 8.5671
Cell Significance Index: -22.9500 - Cell Name: stromal cell of bone marrow (CL0010001)
Fold Change: 7.0932
Cell Significance Index: -27.9900 - Cell Name: CD8-positive, alpha-beta regulatory T cell (CL0000795)
Fold Change: 5.1441
Cell Significance Index: -15.8000 - Cell Name: glycinergic neuron (CL1001509)
Fold Change: 1.4549
Cell Significance Index: 76.3900 - Cell Name: tuft cell of colon (CL0009041)
Fold Change: 1.3336
Cell Significance Index: 1204.1600 - Cell Name: thyroid follicular cell (CL0002258)
Fold Change: 0.9873
Cell Significance Index: 10.4900 - Cell Name: GABAergic interneuron (CL0011005)
Fold Change: 0.9843
Cell Significance Index: 680.7800 - Cell Name: gut absorptive cell (CL0000677)
Fold Change: 0.9699
Cell Significance Index: 58.2300 - Cell Name: epithelial cell of small intestine (CL0002254)
Fold Change: 0.9042
Cell Significance Index: 147.0600 - Cell Name: cell in vitro (CL0001034)
Fold Change: 0.9023
Cell Significance Index: 492.7500 - Cell Name: columnar/cuboidal epithelial cell (CL0000075)
Fold Change: 0.8827
Cell Significance Index: 3.3800 - Cell Name: acinar cell of salivary gland (CL0002623)
Fold Change: 0.8156
Cell Significance Index: 38.0300 - Cell Name: L2/3-6 intratelencephalic projecting glutamatergic neuron (CL4023040)
Fold Change: 0.5301
Cell Significance Index: 106.3300 - Cell Name: eye photoreceptor cell (CL0000287)
Fold Change: 0.5164
Cell Significance Index: 32.5500 - Cell Name: enterocyte of epithelium of large intestine (CL0002071)
Fold Change: 0.5125
Cell Significance Index: 23.2300 - Cell Name: microfold cell of epithelium of small intestine (CL1000353)
Fold Change: 0.5117
Cell Significance Index: 35.3900 - Cell Name: lung endothelial cell (CL1001567)
Fold Change: 0.4259
Cell Significance Index: 22.1900 - Cell Name: stromal cell of ovary (CL0002132)
Fold Change: 0.4186
Cell Significance Index: 57.4800 - Cell Name: neoplastic cell (CL0001063)
Fold Change: 0.3622
Cell Significance Index: 71.8700 - Cell Name: paneth cell of epithelium of small intestine (CL1000343)
Fold Change: 0.3319
Cell Significance Index: 7.1900 - Cell Name: enterocyte of epithelium of small intestine (CL1000334)
Fold Change: 0.3103
Cell Significance Index: 8.9400 - Cell Name: colon goblet cell (CL0009039)
Fold Change: 0.2980
Cell Significance Index: 29.4800 - Cell Name: mesonephric nephron tubule epithelial cell (CL1000022)
Fold Change: 0.2889
Cell Significance Index: 10.0400 - Cell Name: enteroendocrine cell of colon (CL0009042)
Fold Change: 0.2833
Cell Significance Index: 53.9100 - Cell Name: leptomeningeal cell (CL0000708)
Fold Change: 0.2789
Cell Significance Index: 5.9600 - Cell Name: tonsil germinal center B cell (CL2000006)
Fold Change: 0.2749
Cell Significance Index: 32.4200 - Cell Name: obsolete caudal ganglionic eminence derived GABAergic cortical interneuron (CL4023070)
Fold Change: 0.2534
Cell Significance Index: 90.8800 - Cell Name: basal epithelial cell of tracheobronchial tree (CL0002329)
Fold Change: 0.2312
Cell Significance Index: 6.4600 - Cell Name: cortical cell of adrenal gland (CL0002097)
Fold Change: 0.2200
Cell Significance Index: 5.9000 - Cell Name: intermediate cell of urothelium (CL4030055)
Fold Change: 0.2144
Cell Significance Index: 38.6500 - Cell Name: odontoblast (CL0000060)
Fold Change: 0.2030
Cell Significance Index: 26.0200 - Cell Name: hair follicular keratinocyte (CL2000092)
Fold Change: 0.1893
Cell Significance Index: 83.7000 - Cell Name: basal cell of urothelium (CL1000486)
Fold Change: 0.1529
Cell Significance Index: 18.8000 - Cell Name: CD4-positive, alpha-beta memory T cell, CD45RO-positive (CL0001204)
Fold Change: 0.1052
Cell Significance Index: 3.0900 - Cell Name: intestinal crypt stem cell of small intestine (CL0009017)
Fold Change: 0.0897
Cell Significance Index: 1.9100 - Cell Name: kidney cell (CL1000497)
Fold Change: 0.0889
Cell Significance Index: 0.7100 - Cell Name: transit amplifying cell of colon (CL0009011)
Fold Change: 0.0752
Cell Significance Index: 2.4100 - Cell Name: small intestine goblet cell (CL1000495)
Fold Change: 0.0686
Cell Significance Index: 2.4100 - Cell Name: retinal rod cell (CL0000604)
Fold Change: 0.0679
Cell Significance Index: 0.8100 - Cell Name: pulmonary alveolar epithelial cell (CL0000322)
Fold Change: 0.0500
Cell Significance Index: 37.8400 - Cell Name: granulosa cell (CL0000501)
Fold Change: 0.0354
Cell Significance Index: 0.9300 - Cell Name: fibroblast of dermis (CL0002551)
Fold Change: 0.0268
Cell Significance Index: 0.5600 - Cell Name: mesenchymal cell (CL0008019)
Fold Change: 0.0164
Cell Significance Index: 0.2800 - Cell Name: pancreatic acinar cell (CL0002064)
Fold Change: 0.0091
Cell Significance Index: 1.5500 - Cell Name: cardiac muscle myoblast (CL0000513)
Fold Change: 0.0070
Cell Significance Index: 0.5300 - Cell Name: sebum secreting cell (CL0000317)
Fold Change: 0.0062
Cell Significance Index: 0.4400 - Cell Name: pigmented epithelial cell (CL0000529)
Fold Change: -0.0076
Cell Significance Index: -14.2900 - Cell Name: conjunctival epithelial cell (CL1000432)
Fold Change: -0.0088
Cell Significance Index: -0.1200 - Cell Name: kidney loop of Henle cortical thick ascending limb epithelial cell (CL1001109)
Fold Change: -0.0100
Cell Significance Index: -7.3100 - Cell Name: paneth cell of colon (CL0009009)
Fold Change: -0.0120
Cell Significance Index: -0.1800 - Cell Name: anterior lens cell (CL0002223)
Fold Change: -0.0133
Cell Significance Index: -24.5600 - Cell Name: lens epithelial cell (CL0002224)
Fold Change: -0.0159
Cell Significance Index: -24.4800 - Cell Name: abnormal cell (CL0001061)
Fold Change: -0.0173
Cell Significance Index: -1.7700 - Cell Name: BEST4+ enteroycte (CL4030026)
Fold Change: -0.0199
Cell Significance Index: -0.3000 - Cell Name: secondary lens fiber (CL0002225)
Fold Change: -0.0209
Cell Significance Index: -28.4400 - Cell Name: bladder urothelial cell (CL1001428)
Fold Change: -0.0219
Cell Significance Index: -1.1400 - Cell Name: pancreatic A cell (CL0000171)
Fold Change: -0.0291
Cell Significance Index: -21.5700 - Cell Name: non-pigmented ciliary epithelial cell (CL0002304)
Fold Change: -0.0310
Cell Significance Index: -19.6800 - Cell Name: type B pancreatic cell (CL0000169)
Fold Change: -0.0434
Cell Significance Index: -24.4900 - Cell Name: ciliary muscle cell (CL1000443)
Fold Change: -0.0435
Cell Significance Index: -19.7300 - Cell Name: cerebellar granule cell (CL0001031)
Fold Change: -0.0443
Cell Significance Index: -0.7600 - Cell Name: pancreatic PP cell (CL0002275)
Fold Change: -0.0507
Cell Significance Index: -31.6600 - Cell Name: pancreatic ductal cell (CL0002079)
Fold Change: -0.0560
Cell Significance Index: -6.4100 - Cell Name: basal cell of prostate epithelium (CL0002341)
Fold Change: -0.0577
Cell Significance Index: -1.5700 - Cell Name: dopaminergic neuron (CL0000700)
Fold Change: -0.0736
Cell Significance Index: -21.1800 - Cell Name: pro-T cell (CL0000827)
Fold Change: -0.0877
Cell Significance Index: -2.2400 - Cell Name: pigmented ciliary epithelial cell (CL0002303)
Fold Change: -0.1045
Cell Significance Index: -15.1900 - Cell Name: early pro-B cell (CL0002046)
Fold Change: -0.1370
Cell Significance Index: -8.8400 - Cell Name: pancreatic D cell (CL0000173)
Fold Change: -0.1446
Cell Significance Index: -30.4500 - Cell Name: preadipocyte (CL0002334)
Fold Change: -0.1532
Cell Significance Index: -2.9900 - Cell Name: microcirculation associated smooth muscle cell (CL0008035)
Fold Change: -0.1571
Cell Significance Index: -1.3200 - Cell Name: hippocampal granule cell (CL0001033)
Fold Change: -0.1724
Cell Significance Index: -11.6000 - Cell Name: lactocyte (CL0002325)
Fold Change: -0.1749
Cell Significance Index: -22.5900 - Cell Name: skeletal muscle myoblast (CL0000515)
Fold Change: -0.1757
Cell Significance Index: -1.9100 - Cell Name: luminal adaptive secretory precursor cell of mammary gland (CL4033057)
Fold Change: -0.2438
Cell Significance Index: -11.4600 - Cell Name: progenitor cell of mammary luminal epithelium (CL0009116)
Fold Change: -0.2510
Cell Significance Index: -18.7100 - Cell Name: indirect pathway medium spiny neuron (CL4023029)
Fold Change: -0.2643
Cell Significance Index: -11.6900 - Cell Name: smooth muscle cell of sphincter of pupil (CL0002243)
Fold Change: -0.2669
Cell Significance Index: -27.7900 - Cell Name: kidney loop of Henle descending limb epithelial cell (CL1001021)
Fold Change: -0.2720
Cell Significance Index: -21.5400 - Cell Name: placental villous trophoblast (CL2000060)
Fold Change: -0.2843
Cell Significance Index: -7.5900 - Cell Name: direct pathway medium spiny neuron (CL4023026)
Fold Change: -0.3338
Cell Significance Index: -12.6400 - Cell Name: cone retinal bipolar cell (CL0000752)
Fold Change: -0.3386
Cell Significance Index: -2.6100 - Cell Name: retinal progenitor cell (CL0002672)
Fold Change: -0.3646
Cell Significance Index: -20.4600 - Cell Name: intestinal tuft cell (CL0019032)
Fold Change: -0.3755
Cell Significance Index: -23.0200 - Cell Name: skeletal muscle fiber (CL0008002)
Fold Change: -0.3929
Cell Significance Index: -10.1000 - Cell Name: pvalb GABAergic cortical interneuron (CL4023018)
Fold Change: -0.4123
Cell Significance Index: -8.7500 - Cell Name: intestinal epithelial cell (CL0002563)
Fold Change: -0.4424
Cell Significance Index: -4.5800 - Cell Name: enteroendocrine cell of small intestine (CL0009006)
Fold Change: -0.4941
Cell Significance Index: -12.3500 - Cell Name: stratified epithelial cell (CL0000079)
Fold Change: -0.5135
Cell Significance Index: -18.8500 - Cell Name: corticothalamic-projecting glutamatergic cortical neuron (CL4023013)
Fold Change: -0.5162
Cell Significance Index: -16.4400 - Cell Name: kidney epithelial cell (CL0002518)
Fold Change: -0.5181
Cell Significance Index: -15.2600 - Cell Name: L6b glutamatergic cortical neuron (CL4023038)
Fold Change: -0.5464
Cell Significance Index: -17.8900
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.
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.
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
Genular Protein ID: 3582799311
Symbol: MKKS_HUMAN
Name: Bardet-Biedl syndrome 6 protein
UniProtKB Accession Codes:
Database IDs:
Citations:
PubMed ID: 10802661
Title: Mutation of a gene encoding a putative chaperonin causes McKusick-Kaufman syndrome.
PubMed ID: 10802661
DOI: 10.1038/75637
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
PubMed ID: 11780052
Title: The DNA sequence and comparative analysis of human chromosome 20.
PubMed ID: 11780052
DOI: 10.1038/414865a
PubMed ID: 15731008
Title: MKKS/BBS6, a divergent chaperonin-like protein linked to the obesity disorder Bardet-Biedl syndrome, is a novel centrosomal component required for cytokinesis.
PubMed ID: 15731008
DOI: 10.1242/jcs.01676
PubMed ID: 16327777
Title: Dissection of epistasis in oligogenic Bardet-Biedl syndrome.
PubMed ID: 16327777
DOI: 10.1038/nature04370
PubMed ID: 18094050
Title: MKKS is a centrosome-shuttling protein degraded by disease-causing mutations via CHIP-mediated ubiquitination.
PubMed ID: 18094050
PubMed ID: 20080638
Title: BBS6, BBS10, and BBS12 form a complex with CCT/TRiC family chaperonins and mediate BBSome assembly.
PubMed ID: 20080638
PubMed ID: 26900326
Title: A novel H395R mutation in MKKS/BBS6 causes retinitis pigmentosa and polydactyly without other findings of Bardet-Biedl or McKusick-Kaufman syndrome.
PubMed ID: 26900326
PubMed ID: 33144677
Title: Dlec1 is required for spermatogenesis and male fertility in mice.
PubMed ID: 33144677
PubMed ID: 10973238
PubMed ID: 10973251
Title: Mutations in MKKS cause obesity, retinal dystrophy and renal malformations associated with Bardet-Biedl syndrome.
PubMed ID: 10973251
DOI: 10.1038/79201
PubMed ID: 11179009
Title: Genetic and mutational analyses of a large multiethnic Bardet-Biedl cohort reveal a minor involvement of BBS6 and delineate the critical intervals of other loci.
PubMed ID: 11179009
DOI: 10.1086/318794
PubMed ID: 11567139
Title: Triallelic inheritance in Bardet-Biedl syndrome, a Mendelian recessive disorder.
PubMed ID: 11567139
PubMed ID: 12107442
Title: Mutation analysis of the MKKS gene in McKusick-Kaufman syndrome and selected Bardet-Biedl syndrome patients.
PubMed ID: 12107442
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: 12837689
Title: Heterozygous mutations in BBS1, BBS2 and BBS6 have a potential epistatic effect on Bardet-Biedl patients with two mutations at a second BBS locus.
PubMed ID: 12837689
DOI: 10.1093/hmg/ddg188
PubMed ID: 12920096
Title: Further support for digenic inheritance in Bardet-Biedl syndrome.
PubMed ID: 12920096
PubMed ID: 15666242
Title: Antenatal presentation of Bardet-Biedl syndrome may mimic Meckel syndrome.
PubMed ID: 15666242
DOI: 10.1086/428679
PubMed ID: 15770229
Title: Testing for triallelism: analysis of six BBS genes in a Bardet-Biedl syndrome family cohort.
PubMed ID: 15770229
PubMed ID: 15483080
Title: Variation of the McKusick-Kaufman gene and studies of relationships with common forms of obesity.
PubMed ID: 15483080
DOI: 10.1210/jc.2004-0465
PubMed ID: 20120035
Title: Bardet-Biedl syndrome in Denmark -- report of 13 novel sequence variations in six genes.
PubMed ID: 20120035
DOI: 10.1002/humu.21204
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
PubMed ID: 22152675
Title: TMEM237 is mutated in individuals with a Joubert syndrome related disorder and expands the role of the TMEM family at the ciliary transition zone.
PubMed ID: 22152675
PubMed ID: 28761321
Title: Sequence variants in four genes underlying Bardet-Biedl syndrome in consanguineous families.
PubMed ID: 28761321
PubMed ID: 28753627
Title: Nuclear/cytoplasmic transport defects in BBS6 underlie congenital heart disease through perturbation of a chromatin remodeling protein.
PubMed ID: 28753627
Sequence Information:
- Length: 570
- Mass: 62342
- Checksum: 14BA57FF8AEA0AF7
- Sequence:
MSRLEAKKPS LCKSEPLTTE RVRTTLSVLK RIVTSCYGPS GRLKQLHNGF GGYVCTTSQS SALLSHLLVT HPILKILTAS IQNHVSSFSD CGLFTAILCC NLIENVQRLG LTPTTVIRLN KHLLSLCISY LKSETCGCRI PVDFSSTQIL LCLVRSILTS KPACMLTRKE TEHVSALILR AFLLTIPENA EGHIILGKSL IVPLKGQRVI DSTVLPGILI EMSEVQLMRL LPIKKSTALK VALFCTTLSG DTSDTGEGTV VVSYGVSLEN AVLDQLLNLG RQLISDHVDL VLCQKVIHPS LKQFLNMHRI IAIDRIGVTL MEPLTKMTGT QPIGSLGSIC PNSYGSVKDV CTAKFGSKHF FHLIPNEATI CSLLLCNRND TAWDELKLTC QTALHVLQLT LKEPWALLGG GCTETHLAAY IRHKTHNDPE SILKDDECTQ TELQLIAEAF CSALESVVGS LEHDGGEILT DMKYGHLWSV QADSPCVANW PDLLSQCGCG LYNSQEELNW SFLRSTRRPF VPQSCLPHEA VGSASNLTLD CLTAKLSGLQ VAVETANLIL DLSYVIEDKN
Genular Protein ID: 3025974976
Symbol: B7Z3W9_HUMAN
Name: N/A
UniProtKB Accession Codes:
Database IDs:
Sequence Information:
- Length: 99
- Mass: 10929
- Checksum: 43AC1EE25B412BA0
- Sequence:
MKYGHLWSVQ ADSPCVANWP DLLSQCGCGL YNSQEELNWS FLRSTRRPFV PQSCLPHEAV GSASNLTLDC LTAKLSGLQV AVETANLILD LSYVIEDKN
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.