C-It-Loci: A knowledge database for tissue-enriched loci.

Institute of Cardiovascular Regeneration, Goethe-University Frankfurt am Main

Gene Info

Description: mutL homolog 1
Gene AccessionGene NameTax IDStrandPositionGene Biotype
ENSG00000076242 MLH1 9606 + 3:36993332-37050918 protein_coding
  Transcript Accession Transcript Name Position Transcript Biotype
  ENST00000231790 MLH1-001 36993332-37050918 protein_coding
  ENST00000413212 MLH1-009 37014432-37040236 nonsense_mediated_decay
  ENST00000413740 MLH1-011 37025976-37050537 protein_coding
  ENST00000429117 MLH1-016 36993826-37008904 protein_coding
  ENST00000432299 MLH1-002 36993524-37012099 nonsense_mediated_decay
  ENST00000435176 MLH1-006 36993804-37050844 protein_coding
  ENST00000441265 MLH1-020 36993804-37020463 protein_coding
  ENST00000442249 MLH1-013 36993533-37012056 nonsense_mediated_decay
  ENST00000447829 MLH1-007 37012042-37025919 nonsense_mediated_decay
  ENST00000450420 MLH1-010 37025976-37050537 protein_coding
  ENST00000454028 MLH1-018 36993534-37011840 nonsense_mediated_decay
  ENST00000455445 MLH1-005 36993798-37050706 protein_coding
  ENST00000456676 MLH1-003 36993573-37050844 protein_coding
  ENST00000457004 MLH1-012 36993516-37014494 nonsense_mediated_decay
  ENST00000458009 MLH1-008 37012082-37028847 nonsense_mediated_decay
  ENST00000458205 MLH1-004 36993776-37050846 protein_coding
  ENST00000466900 MLH1-019 36993848-37008882 processed_transcript
  ENST00000476172 MLH1-014 36993777-37001054 processed_transcript
  ENST00000485889 MLH1-017 36994227-37011836 processed_transcript
  ENST00000492474 MLH1-015 36993826-37011840 processed_transcript
  ENST00000536378 MLH1-201 36993350-37050842 protein_coding
  ENST00000539477 MLH1-202 36993777-37050842 protein_coding
  ENST00000616768 MLH1-021 37025831-37047740 protein_coding

Expression Patterns

Heat Map
Numeric Values
Transcript'; AdiposeAdrenalBladderBrainBreastColonHeartKidneyLiverLungMuscleOvaryPlacentaTestisENST00000231790ENST00000432299ENST00000435176ENST00000442249ENST00000455445ENST00000456676ENST00000466900ENST00000536378ENST00000539477ENST00000616768
Transcript ID Adipose Adrenal Bladder Brain Breast Colon Heart Kidney Liver Lung Muscle Ovary Placenta Testis
ENST00000231790 N/A N/A 1.311±0.00 1.807±0.82 4.664±0.00 3.191±0.00 2.609±0.76 1.071±0.07 5.527±0.00 2.057±0.00 4.759±0.00 3.667±0.69 4.867±1.13 8.562±0.00
ENST00000432299 N/A N/A 0.855±0.00 3.162±0.00 N/A N/A N/A 1.624±0.00 N/A 3.285±0.00 N/A 2.398±0.00 N/A N/A
ENST00000435176 N/A N/A N/A N/A N/A N/A N/A N/A N/A 1.754±0.00 3.015±0.00 2.394±1.16 3.345±0.34 N/A
ENST00000442249 N/A N/A N/A N/A N/A N/A N/A 3.257±0.00 N/A N/A N/A N/A N/A N/A
ENST00000455445 3.089±0.00 5.990±0.00 N/A 4.011±0.00 2.490±0.00 2.836±0.00 7.352±0.00 4.330±0.00 2.277±0.00 N/A 3.334±0.00 1.344±0.00 N/A 8.398±0.00
ENST00000456676 1.996±0.00 N/A N/A N/A 1.397±0.00 N/A N/A N/A N/A 1.046±0.00 N/A N/A 1.682±0.00 4.161±0.00
ENST00000466900 N/A N/A 2.884±0.00 N/A N/A N/A N/A 3.416±0.00 N/A N/A N/A N/A N/A N/A
ENST00000536378 N/A 2.350±0.00 N/A 1.098±0.00 1.770±0.00 2.658±0.00 2.545±0.00 N/A 1.984±0.00 2.451±0.00 N/A N/A N/A 5.159±0.00
ENST00000539477 1.005±0.00 3.103±0.00 N/A 1.278±0.00 2.869±0.00 1.478±0.00 2.422±0.00 1.973±0.00 1.810±0.00 N/A 1.935±0.00 1.361±0.00 N/A 3.978±0.00
ENST00000616768 N/A N/A N/A N/A N/A N/A N/A N/A N/A N/A N/A 8.918±0.00 12.597±0.00 28.670±0.00

Conserved Regions

Region IDSub-RegionRegion TypePosition
CIL_00041G CIL_00041G_0002 CGP 3:36993332-37183689

Gene Ontology
GO IDEvidence TypeGO Description
GO:0000289 IEA nuclear-transcribed mRNA poly(A) tail shortening
GO:0000712 IEA resolution of meiotic recombination intermediates
GO:0000793 IEA condensed chromosome
GO:0000794 IEA condensed nuclear chromosome
GO:0000795 IBA synaptonemal complex
GO:0001673 IEA male germ cell nucleus
GO:0002204 IEA somatic recombination of immunoglobulin genes involved in immune response
GO:0003697 IDA single-stranded DNA binding
GO:0005515 IPI protein binding
GO:0005524 IEA ATP binding
GO:0005634 IDA nucleus
GO:0005694 IEA chromosome
GO:0005712 IBA chiasma
GO:0006200 IBA ATP catabolic process
GO:0006281 IEA DNA repair
GO:0006298 IGI:IEA mismatch repair
GO:0006303 IEA double-strand break repair via nonhomologous end joining
GO:0006974 IEA cellular response to DNA damage stimulus
GO:0007060 IEA male meiosis chromosome segregation
GO:0007129 IEA synapsis
GO:0007131 IEA reciprocal meiotic recombination
GO:0007140 IEA male meiosis
GO:0007283 IEA spermatogenesis
GO:0008630 IEA intrinsic apoptotic signaling pathway in response to DNA damage
GO:0016020 IDA membrane
GO:0016446 IBA somatic hypermutation of immunoglobulin genes
GO:0016447 IEA somatic recombination of immunoglobulin gene segments
GO:0016887 IBA ATPase activity
GO:0030983 IEA mismatched DNA binding
GO:0032137 IEA guanine/thymine mispair binding
GO:0032300 IEA mismatch repair complex
GO:0032389 IBA MutLalpha complex
GO:0032407 IDA MutSalpha complex binding
GO:0043060 IEA meiotic metaphase I plate congression
GO:0043566 IEA structure-specific DNA binding
GO:0045132 IEA meiotic chromosome segregation
GO:0045190 IEA isotype switching
GO:0045950 IEA negative regulation of mitotic recombination
GO:0048477 IEA oogenesis
GO:0051257 IEA spindle midzone assembly involved in meiosis

Homologs

ENSEMBL Accession Gene Name Description Biotype Species
ENSDARG00000025948 mlh1 mutL homolog 1, colon cancer, nonpolyposis type 2 (E. coli) protein_coding Danio_rerio
ENSMUSG00000032498 Mlh1 mutL homolog 1 (E. coli) protein_coding Mus_musculus

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