Details for: MLH1
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: 118.0686
Cell Significance Index: -18.3700 - Cell Name: hematopoietic oligopotent progenitor cell (CL0002032)
Fold Change: 86.0854
Cell Significance Index: -21.8400 - Cell Name: embryonic stem cell (CL0002322)
Fold Change: 59.8256
Cell Significance Index: -24.6500 - Cell Name: mucosal type mast cell (CL0000485)
Fold Change: 51.9499
Cell Significance Index: -21.1100 - Cell Name: peripheral blood mononuclear cell (CL2000001)
Fold Change: 46.5702
Cell Significance Index: -23.9600 - Cell Name: ciliated cell of the bronchus (CL0002332)
Fold Change: 22.1421
Cell Significance Index: -21.1400 - Cell Name: orthochromatic erythroblast (CL0000552)
Fold Change: 19.2667
Cell Significance Index: -23.7600 - Cell Name: CD8-alpha-beta-positive, alpha-beta intraepithelial T cell (CL0000796)
Fold Change: 8.4439
Cell Significance Index: -22.6200 - Cell Name: stromal cell of bone marrow (CL0010001)
Fold Change: 6.2316
Cell Significance Index: -24.5900 - Cell Name: CD8-positive, alpha-beta regulatory T cell (CL0000795)
Fold Change: 6.1079
Cell Significance Index: -18.7600 - Cell Name: cardiac muscle myoblast (CL0000513)
Fold Change: 0.8395
Cell Significance Index: 64.4200 - Cell Name: L2/3-6 intratelencephalic projecting glutamatergic neuron (CL4023040)
Fold Change: 0.8000
Cell Significance Index: 160.4800 - Cell Name: tuft cell of colon (CL0009041)
Fold Change: 0.7186
Cell Significance Index: 648.8500 - Cell Name: epithelial cell of stomach (CL0002178)
Fold Change: 0.6421
Cell Significance Index: 74.8300 - Cell Name: epithelial cell of small intestine (CL0002254)
Fold Change: 0.6243
Cell Significance Index: 101.5400 - Cell Name: intestinal crypt stem cell of colon (CL0009043)
Fold Change: 0.6131
Cell Significance Index: 66.6900 - Cell Name: neoplastic cell (CL0001063)
Fold Change: 0.5600
Cell Significance Index: 111.1300 - Cell Name: obsolete caudal ganglionic eminence derived GABAergic cortical interneuron (CL4023070)
Fold Change: 0.4932
Cell Significance Index: 176.9200 - Cell Name: conjunctival epithelial cell (CL1000432)
Fold Change: 0.4581
Cell Significance Index: 6.2500 - Cell Name: tonsil germinal center B cell (CL2000006)
Fold Change: 0.3806
Cell Significance Index: 44.8900 - Cell Name: skeletal muscle fiber (CL0008002)
Fold Change: 0.2817
Cell Significance Index: 7.2400 - Cell Name: paneth cell of epithelium of small intestine (CL1000343)
Fold Change: 0.2640
Cell Significance Index: 5.7200 - Cell Name: GABAergic interneuron (CL0011005)
Fold Change: 0.2564
Cell Significance Index: 177.3600 - Cell Name: retinal progenitor cell (CL0002672)
Fold Change: 0.2541
Cell Significance Index: 14.2600 - Cell Name: forebrain neuroblast (CL1000042)
Fold Change: 0.2475
Cell Significance Index: 15.2100 - Cell Name: enterocyte of epithelium of small intestine (CL1000334)
Fold Change: 0.2379
Cell Significance Index: 6.8600 - Cell Name: bladder urothelial cell (CL1001428)
Fold Change: 0.2163
Cell Significance Index: 11.2400 - Cell Name: basal epithelial cell of tracheobronchial tree (CL0002329)
Fold Change: 0.2133
Cell Significance Index: 5.9600 - Cell Name: mesonephric nephron tubule epithelial cell (CL1000022)
Fold Change: 0.1848
Cell Significance Index: 6.4200 - Cell Name: intermediate cell of urothelium (CL4030055)
Fold Change: 0.1729
Cell Significance Index: 31.1700 - Cell Name: colon goblet cell (CL0009039)
Fold Change: 0.1703
Cell Significance Index: 16.8500 - Cell Name: enteroendocrine cell of small intestine (CL0009006)
Fold Change: 0.1680
Cell Significance Index: 4.2000 - Cell Name: basal cell of urothelium (CL1000486)
Fold Change: 0.1673
Cell Significance Index: 20.5700 - Cell Name: hair follicular keratinocyte (CL2000092)
Fold Change: 0.1536
Cell Significance Index: 67.9000 - Cell Name: stromal cell of ovary (CL0002132)
Fold Change: 0.1519
Cell Significance Index: 20.8600 - Cell Name: eye photoreceptor cell (CL0000287)
Fold Change: 0.1296
Cell Significance Index: 8.1700 - Cell Name: cell in vitro (CL0001034)
Fold Change: 0.1269
Cell Significance Index: 69.3000 - Cell Name: leptomeningeal cell (CL0000708)
Fold Change: 0.1244
Cell Significance Index: 2.6600 - Cell Name: direct pathway medium spiny neuron (CL4023026)
Fold Change: 0.0967
Cell Significance Index: 3.6600 - Cell Name: odontoblast (CL0000060)
Fold Change: 0.0853
Cell Significance Index: 10.9300 - Cell Name: indirect pathway medium spiny neuron (CL4023029)
Fold Change: 0.0771
Cell Significance Index: 3.4100 - Cell Name: enterocyte of epithelium of large intestine (CL0002071)
Fold Change: 0.0675
Cell Significance Index: 3.0600 - Cell Name: cortical cell of adrenal gland (CL0002097)
Fold Change: 0.0603
Cell Significance Index: 1.6200 - Cell Name: cardiac muscle cell (CL0000746)
Fold Change: 0.0596
Cell Significance Index: 0.8800 - Cell Name: microfold cell of epithelium of small intestine (CL1000353)
Fold Change: 0.0588
Cell Significance Index: 4.0700 - Cell Name: acinar cell of salivary gland (CL0002623)
Fold Change: 0.0573
Cell Significance Index: 2.6700 - Cell Name: sebum secreting cell (CL0000317)
Fold Change: 0.0382
Cell Significance Index: 2.7000 - Cell Name: early pro-B cell (CL0002046)
Fold Change: 0.0370
Cell Significance Index: 2.3900 - Cell Name: pigmented epithelial cell (CL0000529)
Fold Change: 0.0360
Cell Significance Index: 67.7500 - Cell Name: lens epithelial cell (CL0002224)
Fold Change: 0.0251
Cell Significance Index: 38.7100 - Cell Name: anterior lens cell (CL0002223)
Fold Change: 0.0240
Cell Significance Index: 44.2800 - Cell Name: small intestine goblet cell (CL1000495)
Fold Change: 0.0239
Cell Significance Index: 0.8400 - Cell Name: enteroendocrine cell of colon (CL0009042)
Fold Change: 0.0216
Cell Significance Index: 4.1200 - Cell Name: pancreatic acinar cell (CL0002064)
Fold Change: 0.0183
Cell Significance Index: 3.1300 - Cell Name: non-pigmented ciliary epithelial cell (CL0002304)
Fold Change: 0.0166
Cell Significance Index: 10.5700 - Cell Name: cerebellar granule cell (CL0001031)
Fold Change: 0.0123
Cell Significance Index: 0.2100 - Cell Name: secondary lens fiber (CL0002225)
Fold Change: 0.0069
Cell Significance Index: 9.3300 - Cell Name: ciliary muscle cell (CL1000443)
Fold Change: 0.0048
Cell Significance Index: 2.2000 - Cell Name: pancreatic PP cell (CL0002275)
Fold Change: -0.0078
Cell Significance Index: -4.8700 - Cell Name: pancreatic A cell (CL0000171)
Fold Change: -0.0090
Cell Significance Index: -6.6500 - Cell Name: placental villous trophoblast (CL2000060)
Fold Change: -0.0157
Cell Significance Index: -0.4200 - Cell Name: pulmonary alveolar epithelial cell (CL0000322)
Fold Change: -0.0171
Cell Significance Index: -12.9500 - Cell Name: kidney loop of Henle cortical thick ascending limb epithelial cell (CL1001109)
Fold Change: -0.0176
Cell Significance Index: -12.9100 - Cell Name: pigmented ciliary epithelial cell (CL0002303)
Fold Change: -0.0220
Cell Significance Index: -3.2000 - Cell Name: type B pancreatic cell (CL0000169)
Fold Change: -0.0302
Cell Significance Index: -17.0400 - Cell Name: lactocyte (CL0002325)
Fold Change: -0.0447
Cell Significance Index: -5.7800 - Cell Name: abnormal cell (CL0001061)
Fold Change: -0.0513
Cell Significance Index: -5.2400 - Cell Name: dopaminergic neuron (CL0000700)
Fold Change: -0.0611
Cell Significance Index: -17.5700 - Cell Name: mesenchymal cell (CL0008019)
Fold Change: -0.0633
Cell Significance Index: -1.0600 - Cell Name: pancreatic D cell (CL0000173)
Fold Change: -0.0637
Cell Significance Index: -13.4200 - Cell Name: intestinal crypt stem cell of small intestine (CL0009017)
Fold Change: -0.0714
Cell Significance Index: -1.5200 - Cell Name: hippocampal granule cell (CL0001033)
Fold Change: -0.0754
Cell Significance Index: -5.0700 - Cell Name: progenitor cell of mammary luminal epithelium (CL0009116)
Fold Change: -0.0841
Cell Significance Index: -6.2700 - Cell Name: glycinergic neuron (CL1001509)
Fold Change: -0.0895
Cell Significance Index: -4.7000 - Cell Name: luminal adaptive secretory precursor cell of mammary gland (CL4033057)
Fold Change: -0.1002
Cell Significance Index: -4.7100 - Cell Name: pancreatic ductal cell (CL0002079)
Fold Change: -0.1154
Cell Significance Index: -13.2200 - Cell Name: cortical interneuron (CL0008031)
Fold Change: -0.1184
Cell Significance Index: -2.8400 - Cell Name: fibroblast of dermis (CL0002551)
Fold Change: -0.1285
Cell Significance Index: -2.6900 - Cell Name: retinal rod cell (CL0000604)
Fold Change: -0.1376
Cell Significance Index: -1.6400 - Cell Name: preadipocyte (CL0002334)
Fold Change: -0.1563
Cell Significance Index: -3.0500 - Cell Name: pancreatic endocrine cell (CL0008024)
Fold Change: -0.1618
Cell Significance Index: -18.4700 - Cell Name: smooth muscle cell of sphincter of pupil (CL0002243)
Fold Change: -0.2021
Cell Significance Index: -21.0500 - Cell Name: kidney epithelial cell (CL0002518)
Fold Change: -0.2159
Cell Significance Index: -6.3600 - Cell Name: GABAergic amacrine cell (CL4030027)
Fold Change: -0.2205
Cell Significance Index: -2.7400 - Cell Name: basal cell of prostate epithelium (CL0002341)
Fold Change: -0.2206
Cell Significance Index: -6.0100 - Cell Name: Purkinje cell (CL0000121)
Fold Change: -0.2226
Cell Significance Index: -4.8800 - Cell Name: transit amplifying cell of colon (CL0009011)
Fold Change: -0.2273
Cell Significance Index: -7.2800 - Cell Name: kidney loop of Henle descending limb epithelial cell (CL1001021)
Fold Change: -0.2591
Cell Significance Index: -20.5200 - Cell Name: intestinal tuft cell (CL0019032)
Fold Change: -0.2740
Cell Significance Index: -16.8000 - Cell Name: pro-T cell (CL0000827)
Fold Change: -0.2838
Cell Significance Index: -7.2500 - Cell Name: lung endothelial cell (CL1001567)
Fold Change: -0.3458
Cell Significance Index: -18.0100 - Cell Name: skeletal muscle myoblast (CL0000515)
Fold Change: -0.3495
Cell Significance Index: -3.8000 - Cell Name: fibroblast of mammary gland (CL0002555)
Fold Change: -0.3548
Cell Significance Index: -10.1700 - Cell Name: Hofbauer cell (CL3000001)
Fold Change: -0.3569
Cell Significance Index: -2.9100 - Cell Name: granulosa cell (CL0000501)
Fold Change: -0.3582
Cell Significance Index: -9.4200 - Cell Name: hippocampal pyramidal neuron (CL1001571)
Fold Change: -0.3827
Cell Significance Index: -10.9200 - Cell Name: type I muscle cell (CL0002211)
Fold Change: -0.3914
Cell Significance Index: -9.5500 - Cell Name: CD4-positive, alpha-beta memory T cell, CD45RO-positive (CL0001204)
Fold Change: -0.4052
Cell Significance Index: -11.9000 - Cell Name: L6b glutamatergic cortical neuron (CL4023038)
Fold Change: -0.4264
Cell Significance Index: -13.9600 - Cell Name: corticothalamic-projecting glutamatergic cortical neuron (CL4023013)
Fold Change: -0.4317
Cell Significance Index: -13.7500
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: 2850110566
Symbol: MLH1_HUMAN
Name: DNA mismatch repair protein Mlh1
UniProtKB Accession Codes:
Database IDs:
Citations:
PubMed ID: 8145827
Title: Mutation in the DNA mismatch repair gene homologue hMLH1 is associated with hereditary non-polyposis colon cancer.
PubMed ID: 8145827
DOI: 10.1038/368258a0
PubMed ID: 8128251
Title: Mutation of a mutL homolog in hereditary colon cancer.
PubMed ID: 8128251
PubMed ID: 7812952
Title: Structure of the human MLH1 locus and analysis of a large hereditary nonpolyposis colorectal carcinoma kindred for mlh1 mutations.
PubMed ID: 7812952
PubMed ID: 7757073
Title: Genomic structure of human mismatch repair gene, hMLH1, and its mutation analysis in patients with hereditary non-polyposis colorectal cancer (HNPCC).
PubMed ID: 7757073
DOI: 10.1093/hmg/4.2.237
PubMed ID: 14702039
Title: Complete sequencing and characterization of 21,243 full-length human cDNAs.
PubMed ID: 14702039
DOI: 10.1038/ng1285
PubMed ID: 16641997
Title: The DNA sequence, annotation and analysis of human chromosome 3.
PubMed ID: 16641997
DOI: 10.1038/nature04728
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: 10783165
Title: BASC, a super complex of BRCA1-associated proteins involved in the recognition and repair of aberrant DNA structures.
PubMed ID: 10783165
PubMed ID: 10097147
Title: MED1, a novel human methyl-CpG-binding endonuclease, interacts with DNA mismatch repair protein MLH1.
PubMed ID: 10097147
PubMed ID: 11427529
Title: The interaction of DNA mismatch repair proteins with human exonuclease I.
PubMed ID: 11427529
PubMed ID: 11429708
Title: HNPCC mutations in the human DNA mismatch repair gene hMLH1 influence assembly of hMutLalpha and hMLH1-hEXO1 complexes.
PubMed ID: 11429708
PubMed ID: 12414623
Title: Functional alterations of human exonuclease 1 mutants identified in atypical hereditary nonpolyposis colorectal cancer syndrome.
PubMed ID: 12414623
PubMed ID: 14676842
Title: Characterization of human exonuclease 1 in complex with mismatch repair proteins, subcellular localization and association with PCNA.
PubMed ID: 14676842
PubMed ID: 8751876
Title: The genetic basis of Muir-Torre syndrome includes the hMLH1 locus.
PubMed ID: 8751876
PubMed ID: 16873062
Title: Endonucleolytic function of MutLalpha in human mismatch repair.
PubMed ID: 16873062
PubMed ID: 18206974
Title: Direct visualization of asymmetric adenine nucleotide-induced conformational changes in MutL alpha.
PubMed ID: 18206974
PubMed ID: 16188885
Title: Human mismatch repair: reconstitution of a nick-directed bidirectional reaction.
PubMed ID: 16188885
PubMed ID: 16873053
Title: MutLalpha: at the cutting edge of mismatch repair.
PubMed ID: 16873053
PubMed ID: 18157157
Title: Mechanisms and functions of DNA mismatch repair.
PubMed ID: 18157157
DOI: 10.1038/cr.2007.115
PubMed ID: 18669648
Title: A quantitative atlas of mitotic phosphorylation.
PubMed ID: 18669648
PubMed ID: 19690332
Title: Quantitative phosphoproteomic analysis of T cell receptor signaling reveals system-wide modulation of protein-protein interactions.
PubMed ID: 19690332
PubMed ID: 20603073
Title: A genetic screen identifies FAN1, a Fanconi anemia-associated nuclease necessary for DNA interstrand crosslink repair.
PubMed ID: 20603073
PubMed ID: 21269460
Title: Initial characterization of the human central proteome.
PubMed ID: 21269460
PubMed ID: 21406692
Title: System-wide temporal characterization of the proteome and phosphoproteome of human embryonic stem cell differentiation.
PubMed ID: 21406692
PubMed ID: 22223895
Title: Comparative large-scale characterisation of plant vs. mammal proteins reveals similar and idiosyncratic N-alpha acetylation features.
PubMed ID: 22223895
PubMed ID: 23186163
Title: Toward a comprehensive characterization of a human cancer cell phosphoproteome.
PubMed ID: 23186163
DOI: 10.1021/pr300630k
PubMed ID: 24275569
Title: An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome.
PubMed ID: 24275569
PubMed ID: 26300262
Title: MCM9 Is Required for Mammalian DNA Mismatch Repair.
PubMed ID: 26300262
PubMed ID: 26249686
Title: Structure of the human MLH1 N-terminus: implications for predisposition to Lynch syndrome.
PubMed ID: 26249686
PubMed ID: 29175432
Title: DNA mismatch repair proteins MLH1 and PMS2 can be imported to the nucleus by a classical nuclear import pathway.
PubMed ID: 29175432
PubMed ID: 20020535
Title: A cell-free assay for the functional analysis of variants of the mismatch repair protein MLH1.
PubMed ID: 20020535
DOI: 10.1002/humu.21180
PubMed ID: 21120944
Title: Verification of the three-step model in assessing the pathogenicity of mismatch repair gene variants.
PubMed ID: 21120944
DOI: 10.1002/humu.21409
PubMed ID: 7661930
Title: The molecular basis of Turcot's syndrome.
PubMed ID: 7661930
PubMed ID: 8571956
Title: Majority of hMLH1 mutations responsible for hereditary nonpolyposis colorectal cancer cluster at the exonic region 15-16.
PubMed ID: 8571956
PubMed ID: 8566964
Title: CpG dinucleotides in the hMSH2 and hMLH1 genes are hotspots for HNPCC mutations.
PubMed ID: 8566964
DOI: 10.1007/bf02265276
PubMed ID: 8872463
Title: Microsatellite instability and mutation analysis of hMSH2 and hMLH1 in patients with sporadic, familial and hereditary colorectal cancer.
PubMed ID: 8872463
DOI: 10.1093/hmg/5.9.1245
PubMed ID: 8797773
Title: Germline mutations of hMLH1 and hMSH2 genes in Korean hereditary nonpolyposis colorectal cancer.
PubMed ID: 8797773
PubMed ID: 8609062
Title: Mutational analysis of mismatch repair genes, hMLH1 and hMSH2, in sporadic endometrial carcinomas with microsatellite instability.
PubMed ID: 8609062
PubMed ID: 8574961
Title: Analysis of mismatch repair genes in hereditary non-polyposis colorectal cancer patients.
PubMed ID: 8574961
DOI: 10.1038/nm0296-169
PubMed ID: 9311737
Title: Hereditary nonpolyposis colorectal cancer families not complying with the Amsterdam criteria show extremely low frequency of mismatch-repair-gene mutations.
PubMed ID: 9311737
DOI: 10.1086/514847
PubMed ID: 8993976
Title: Characterization of MSH2 and MLH1 mutations in Italian families with hereditary nonpolyposis colorectal cancer.
PubMed ID: 8993976
DOI: 10.1002/(sici)1098-2264(199701)18:1<8::aid-gcc2>3.0.co;2-7
PubMed ID: 9087566
Title: MSH2 and MLH1 mutations in sporadic replication error-positive colorectal carcinoma as assessed by two-dimensional DNA electrophoresis.
PubMed ID: 9087566
DOI: 10.1002/(sici)1098-2264(199704)18:4<269::aid-gcc4>3.3.co;2-9
PubMed ID: 9218993
Title: Mean age of tumor onset in hereditary nonpolyposis colorectal cancer (HNPCC) families correlates with the presence of mutations in DNA mismatch repair genes.
PubMed ID: 9218993
DOI: 10.1002/(sici)1098-2264(199707)19:3<135::aid-gcc1>3.3.co;2-x
PubMed ID: 9048925
Title: Use of SSCP analysis to identify germline mutations in HNPCC families fulfilling the Amsterdam criteria.
PubMed ID: 9048925
PubMed ID: 9272156
Title: Hereditary nonpolyposis colorectal cancer: causative role of a germline missense mutation in the hMLH1 gene confirmed by the independent occurrence of the same somatic mutation in tumour tissue.
PubMed ID: 9272156
PubMed ID: 9067757
Title: Mutational analysis of the hMLH1 gene using an automated two-dimensional DNA typing system.
PubMed ID: 9067757
DOI: 10.1002/(sici)1098-1004(1997)9:2<164::aid-humu9>3.0.co;2-9
PubMed ID: 9259192
Title: Molecular basis of HNPCC: mutations of MMR genes.
PubMed ID: 9259192
DOI: 10.1002/(sici)1098-1004(1997)10:2<89::aid-humu1>3.0.co;2-h
PubMed ID: 9298827
Title: Hereditary nonpolyposis colorectal cancer (HNPCC): eight novel germline mutations in hMSH2 or hMLH1 genes.
PubMed ID: 9298827
DOI: 10.1002/(sici)1098-1004(1997)10:3<241::aid-humu12>3.0.co;2-#
PubMed ID: 9399661
Title: Germline hMSH2 and hMLH1 gene mutations in incomplete HNPCC families.
PubMed ID: 9399661
DOI: 10.1002/(sici)1097-0215(19971210)73:6<831::aid-ijc11>3.0.co;2-7
PubMed ID: 9032648
Title: Germline HNPCC gene variants have little influence on the risk for sporadic colorectal cancer.
PubMed ID: 9032648
DOI: 10.1136/jmg.34.1.39
PubMed ID: 9326924
Title: A human compound heterozygote for two MLH1 missense mutations.
PubMed ID: 9326924
DOI: 10.1038/ng1097-135
PubMed ID: 9718327
Title: Systematic analysis of hMSH2 and hMLH1 in young colon cancer patients and controls.
PubMed ID: 9718327
DOI: 10.1086/301996
PubMed ID: 9611074
Title: DGGE screening of mutations in mismatch repair genes (hMSH2 and hMLH1) in 34 Swedish families with colorectal cancer.
PubMed ID: 9611074
PubMed ID: 9559627
Title: Germline mutations of hMLH1 and hMSH2 genes in patients with suspected hereditary nonpolyposis colorectal cancer and sporadic early-onset colorectal cancer.
PubMed ID: 9559627
DOI: 10.1007/bf02235756
PubMed ID: 9526167
Title: A novel missense mutation in the DNA mismatch repair gene hMLH1 present among East Asians but not among Europeans.
PubMed ID: 9526167
DOI: 10.1159/000022786
PubMed ID: 10627141
Title: Four new mutations in the DNA mismatch repair gene MLH1 in colorectal cancers with microsatellite instability.
PubMed ID: 10627141
DOI: 10.1002/(sici)1098-1004(1998)12:1<73::aid-humu20>3.0.co;2-f
PubMed ID: 10660333
Title: hMLH1 mutations in hereditary nonpolyposis colorectal cancer kindreds.
PubMed ID: 10660333
PubMed ID: 10671064
Title: Hereditary nonpolyposis colorectal cancer: identification of novel germline mutations in two kindreds not fulfilling the Amsterdam criteria.
PubMed ID: 10671064
DOI: 10.1002/(sici)1098-1004(1998)12:6<433::aid-humu13>3.0.co;2-j
PubMed ID: 9833759
Title: Excess of hMLH1 germline mutations in Swiss families with hereditary non-polyposis colorectal cancer.
PubMed ID: 9833759
DOI: 10.1002/(sici)1097-0215(19981209)78:6<680::aid-ijc3>3.0.co;2-u
PubMed ID: 10375096
Title: Influence of selection criteria on mutation detection in patients with hereditary nonpolyposis colorectal cancer.
PubMed ID: 10375096
DOI: 10.1002/(sici)1097-0142(19990615)85:12<2512::aid-cncr4>3.0.co;2-g
PubMed ID: 9927034
Title: Neurofibromatosis and early onset of cancers in hMLH1-deficient children.
PubMed ID: 9927034
PubMed ID: 10573010
Title: Assessment of pathogenicity criteria for constitutional missense mutations of the hereditary nonpolyposis colorectal cancer genes MLH1 and MSH2.
PubMed ID: 10573010
PubMed ID: 10323887
Title: Microsatellite instability, a useful diagnostic tool to select patients at high risk for hereditary non-polyposis colorectal cancer: a study in different groups of patients with colorectal cancer.
PubMed ID: 10323887
DOI: 10.1136/gut.44.6.839
PubMed ID: 10480359
Title: Prevalence of germline mutations of hMLH1, hMSH2, hPMS1, hPMS2, and hMSH6 genes in 75 French kindreds with nonpolyposis colorectal cancer.
PubMed ID: 10480359
PubMed ID: 10598809
Title: Missense mutations in hMLH1 associated with colorectal cancer.
PubMed ID: 10598809
PubMed ID: 10386556
Title: Novel hMLH1 and hMSH2 germline mutations in African Americans with colorectal cancer.
PubMed ID: 10386556
PubMed ID: 10413423
Title: Frequent microsatellite instability and mismatch repair gene mutations in young Chinese patients with colorectal cancer.
PubMed ID: 10413423
PubMed ID: 10777691
Title: Enhanced detection of deleterious and other germline mutations of hMSH2 and hMLH1 in Japanese hereditary nonpolyposis colorectal cancer kindreds.
PubMed ID: 10777691
PubMed ID: 10713887
Title: Detection of mutations in mismatch repair genes in Portuguese families with hereditary non-polyposis colorectal cancer (HNPCC) by a multi-method approach.
PubMed ID: 10713887
PubMed ID: 10882759
Title: Mutational germline analysis of hMSH2 and hMLH1 genes in early onset colorectal cancer patients.
PubMed ID: 10882759
DOI: 10.1136/jmg.37.7.e7
PubMed ID: 12132870
Title: hMLH1 and hMSH2 mutations in families with familial clustering of gastric cancer and hereditary non-polyposis colorectal cancer.
PubMed ID: 12132870
PubMed ID: 11369138
Title: Contribution of germline MLH1 and MSH2 mutations to lobular carcinoma in situ of the breast.
PubMed ID: 11369138
PubMed ID: 11389087
Title: Extensive somatic microsatellite mutations in normal human tissue.
PubMed ID: 11389087
PubMed ID: 11726306
Title: Sixteen rare sequence variants of the hMLH1 and hMSH2 genes found in a cohort of 254 suspected HNPCC (hereditary non-polyposis colorectal cancer) patients: mutations or polymorphisms?
PubMed ID: 11726306
PubMed ID: 11555625
Title: Functional analysis of human MLH1 and MSH2 missense variants and hybrid human-yeast MLH1 proteins in Saccharomyces cerevisiae.
PubMed ID: 11555625
PubMed ID: 11139242
Title: Optimization of experimental conditions for RNA-based sequencing of MLH1 and MSH2 genes.
PubMed ID: 11139242
DOI: 10.1002/1098-1004(2001)17:1<52::aid-humu6>3.0.co;2-e
PubMed ID: 11748856
Title: Eight novel germline MLH1 and MSH2 mutations in hereditary non-polyposis colorectal cancer families from Spain.
PubMed ID: 11748856
DOI: 10.1002/humu.1240
PubMed ID: 12095971
Title: hMLH1 and hMSH2 gene mutation in Brazilian families with suspected hereditary nonpolyposis colorectal cancer.
PubMed ID: 12095971
DOI: 10.1007/bf02573891
PubMed ID: 12373605
Title: Genomic deletions of MSH2 and MLH1 in colorectal cancer families detected by a novel mutation detection approach.
PubMed ID: 12373605
PubMed ID: 12115348
Title: Microsatellite instability and mutation analysis of candidate genes in unselected Sardinian patients with endometrial carcinoma.
PubMed ID: 12115348
DOI: 10.1002/cncr.10606
PubMed ID: 11781295
Title: Functional analysis of hMLH1 variants and HNPCC-related mutations using a human expression system.
PubMed ID: 11781295
PubMed ID: 11839723
Title: Pathogenicity of missense and splice site mutations in hMSH2 and hMLH1 mismatch repair genes: implications for genetic testing.
PubMed ID: 11839723
DOI: 10.1136/gut.50.3.405
PubMed ID: 11793442
Title: Functional analysis of MLH1 mutations linked to hereditary nonpolyposis colon cancer.
PubMed ID: 11793442
DOI: 10.1002/gcc.1225.abs
PubMed ID: 11754112
Title: Seven novel MLH1 and MSH2 germline mutations in hereditary nonpolyposis colorectal cancer.
PubMed ID: 11754112
DOI: 10.1002/humu.9004
PubMed ID: 12200596
Title: Impact of microsatellite testing and mismatch repair protein expression on the clinical interpretation of genetic testing in hereditary non-polyposis colorectal cancer.
PubMed ID: 12200596
PubMed ID: 11870161
Title: Mutations of hMLH1 and hMSH2 in patients with suspected hereditary nonpolyposis colorectal cancer: correlation with microsatellite instability and abnormalities of mismatch repair protein expression.
PubMed ID: 11870161
PubMed ID: 12362047
Title: Germline MSH2 and MLH1 mutational spectrum in HNPCC families from Poland and the Baltic States.
PubMed ID: 12362047
PubMed ID: 12658575
Title: Molecular analysis of hereditary nonpolyposis colorectal cancer in the United States: high mutation detection rate among clinically selected families and characterization of an American founder genomic deletion of the MSH2 gene.
PubMed ID: 12658575
DOI: 10.1086/373963
PubMed ID: 14504054
Title: Microsatellite instability and mutation analysis among southern Italian patients with colorectal carcinoma: detection of different alterations accounting for MLH1 and MSH2 inactivation in familial cases.
PubMed ID: 14504054
PubMed ID: 12655562
Title: Identification of six novel MSH2 and MLH1 germline mutations in HNPCC.
PubMed ID: 12655562
DOI: 10.1002/humu.9121
PubMed ID: 12655564
Title: Genetic analysis of familial colorectal cancer in Israeli Arabs.
PubMed ID: 12655564
DOI: 10.1002/humu.9123
PubMed ID: 14635101
Title: Genomic deletions in MSH2 or MLH1 are a frequent cause of hereditary non-polyposis colorectal cancer: identification of novel and recurrent deletions by MLPA.
PubMed ID: 14635101
DOI: 10.1002/humu.10291
PubMed ID: 15139004
Title: HNPCC mutation MLH1 P648S makes the functional protein unstable, and homozygosity predisposes to mild neurofibromatosis type 1.
PubMed ID: 15139004
DOI: 10.1002/gcc.20040
PubMed ID: 15365995
Title: Germline mutations in MLH1, MSH2 and MSH6 in Korean hereditary non-polyposis colorectal cancer families.
PubMed ID: 15365995
DOI: 10.1002/humu.9277
PubMed ID: 15365996
Title: Ten novel MSH2 and MLH1 germline mutations in families with HNPCC.
PubMed ID: 15365996
DOI: 10.1002/humu.9278
PubMed ID: 14961575
Title: Mutation analysis of the MLH1, MSH2 and MSH6 genes in patients with double primary cancers of the colorectum and the endometrium: a population-based study in northern Sweden.
PubMed ID: 14961575
DOI: 10.1002/ijc.11718
PubMed ID: 15064764
Title: Germline epimutation of MLH1 in individuals with multiple cancers.
PubMed ID: 15064764
DOI: 10.1038/ng1342
PubMed ID: 15184898
Title: The MLH1 D132H variant is associated with susceptibility to sporadic colorectal cancer.
PubMed ID: 15184898
DOI: 10.1038/ng1374
PubMed ID: 16083711
Title: Functional significance and clinical phenotype of nontruncating mismatch repair variants of MLH1.
PubMed ID: 16083711
PubMed ID: 16451135
Title: Germline MSH2 and MLH1 mutational spectrum including large rearrangements in HNPCC families from Poland (update study).
PubMed ID: 16451135
Sequence Information:
- Length: 756
- Mass: 84601
- Checksum: C9231FC406C2CA20
- Sequence:
MSFVAGVIRR LDETVVNRIA AGEVIQRPAN AIKEMIENCL DAKSTSIQVI VKEGGLKLIQ IQDNGTGIRK EDLDIVCERF TTSKLQSFED LASISTYGFR GEALASISHV AHVTITTKTA DGKCAYRASY SDGKLKAPPK PCAGNQGTQI TVEDLFYNIA TRRKALKNPS EEYGKILEVV GRYSVHNAGI SFSVKKQGET VADVRTLPNA STVDNIRSIF GNAVSRELIE IGCEDKTLAF KMNGYISNAN YSVKKCIFLL FINHRLVEST SLRKAIETVY AAYLPKNTHP FLYLSLEISP QNVDVNVHPT KHEVHFLHEE SILERVQQHI ESKLLGSNSS RMYFTQTLLP GLAGPSGEMV KSTTSLTSSS TSGSSDKVYA HQMVRTDSRE QKLDAFLQPL SKPLSSQPQA IVTEDKTDIS SGRARQQDEE MLELPAPAEV AAKNQSLEGD TTKGTSEMSE KRGPTSSNPR KRHREDSDVE MVEDDSRKEM TAACTPRRRI INLTSVLSLQ EEINEQGHEV LREMLHNHSF VGCVNPQWAL AQHQTKLYLL NTTKLSEELF YQILIYDFAN FGVLRLSEPA PLFDLAMLAL DSPESGWTEE DGPKEGLAEY IVEFLKKKAE MLADYFSLEI DEEGNLIGLP LLIDNYVPPL EGLPIFILRL ATEVNWDEEK ECFESLSKEC AMFYSIRKQY ISEESTLSGQ QSEVPGSIPN SWKWTVEHIV YKALRSHILP PKHFTEDGNI LQLANLPDLY KVFERC
Genular Protein ID: 666434344
Symbol: H0Y818_HUMAN
Name: N/A
UniProtKB Accession Codes:
Database IDs:
Citations:
PubMed ID: 11237011
Title: Initial sequencing and analysis of the human genome.
PubMed ID: 11237011
DOI: 10.1038/35057062
PubMed ID: 15496913
Title: Finishing the euchromatic sequence of the human genome.
PubMed ID: 15496913
DOI: 10.1038/nature03001
PubMed ID: 16641997
Title: The DNA sequence, annotation and analysis of human chromosome 3.
PubMed ID: 16641997
DOI: 10.1038/nature04728
PubMed ID: 18669648
Title: A quantitative atlas of mitotic phosphorylation.
PubMed ID: 18669648
PubMed ID: 19690332
Title: Quantitative phosphoproteomic analysis of T cell receptor signaling reveals system-wide modulation of protein-protein interactions.
PubMed ID: 19690332
PubMed ID: 21269460
Title: Initial characterization of the human central proteome.
PubMed ID: 21269460
PubMed ID: 21406692
Title: System-wide temporal characterization of the proteome and phosphoproteome of human embryonic stem cell differentiation.
PubMed ID: 21406692
PubMed ID: 23186163
Title: Toward a comprehensive characterization of a human cancer cell phosphoproteome.
PubMed ID: 23186163
PubMed ID: 24275569
Title: An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome.
PubMed ID: 24275569
Sequence Information:
- Length: 687
- Mass: 76709
- Checksum: DA6549EC67F71847
- Sequence:
MSFVAGVIRR LDETVVNRIA AGEVIQRPAN AIKEMIENCL DAKSTSIQVI VKEGGLKLIQ IQDNGTGIRK EDLDIVCERF TTSKLQSFED LASISTYGFR GEALASISHV AHVTITTKTA DGKCAYRASY SDGKLKAPPK PCAGNQGTQI TVEDLFYNIA TRRKALKNPS EEYGKILEVV GRYSVHNAGI SFSVKKQGET VADVRTLPNA STVDNIRSIF GNAVSRELIE IGCEDKTLAF KMNGYISNAN YSVKKCIFLL FINHRLVEST SLRKAIETVY AAYLPKNTHP FLYLSLEISP QNVDVNVHPT KHEVHFLHEE SILERVQQHI ESKLLGSNSS RMYFTQTLLP GLAGPSGEMV KSTTSLTSSS TSGSSDKVYA HQMVRTDSRE QKLDAFLQPL SKPLSSQPQA IVTEDKTDIS SGRARQQDEE MLELPAPAEV AAKNQSLEGD TTKGTSEMSE KRGPTSSNPR KRHREDSDVE MVEDDSRKEM TAACTPRRRI INLTSVLSLQ EEINEQGHEV LREMLHNHSF VGCVNPQWAL AQHQTKLYLL NTTKLSEELF YQILIYDFAN FGVLRLSEPA PLFDLAMLAL DSPESGWTEE DGPKEGLAEY IVEFLKKKAE MLADYFSLEI DESEVPGSIP NSWKWTVEHI VYKALRSHIL PPKHFTEDGN ILQLANLPDL YKVFERC
Genular Protein ID: 1993906616
Symbol: Q59EG3_HUMAN
Name: N/A
UniProtKB Accession Codes:
Database IDs:
Sequence Information:
- Length: 552
- Mass: 62370
- Checksum: 01E87FCC54DBF6F8
- Sequence:
KPLLNHVLAI KGPRSRWRTF FYNIATRRKA LKNPSEEYGK ILEVVGRYSV HNAGISFSVK KQGETVADVR TLPNASTVDN IRSIFGNAVS RELIEIGCED KTLAFKMNGY ISNANYSVKK CIFLLFINHR LVESTSLRKA IETVYAAYLP KNTHPFLYLS LEISPQNVDV NVHPTKHEVH FLHEESILER VQQHIESKLL GSNSSRMYFT QTLLPGLAGP SGEMVKSTTS LTSSSTSGSS DKVYAHQMVR TDSREQKLDA FLQPLSKPLS SQPQAIVTED KTDISSGRAR QQDEEMLELP APAEVAAKNQ SLEGDTTKGT SEMSEKRGPT SSNPRKRHRE DSDVEMVEDD SRKEMTAACT PRRRIINLTS VLSLQEEINE QGHEVLREML HNHSFVGCVN PQWALAQHQT KLYLLNTTKL SEELFYQILI YDFANFGVLR LSEPAPLFDL AMLALDSPES GWTEEDGPKE GLAEYIVEFL KKKAEMLADY FSLEIDESEV PGSIPNSWKW TVEHIVYKAL RSHILPPKHF TEDGNILQLA NLPDLYKVFE RC
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.