MLH1
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Homo sapiens |
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MLH1 is differentially expressed in 250 experiments: 91 organism parts: testis, blood, ... (89 more);, 160 disease states: normal, control, ... (158 more);, 80 cell types 362 cell lines 31 compound treatments and 66 other conditions. |
| Synonyms |
COCA2, HNPCC2, HNPCC, FCC2 |
| Orthologs |
Q1RMN2_BOVIN
(Bos taurus)
ENSCING00000002563
(Ciona intestinalis)
MLH1
(Saccharomyces cerevisiae)
Mlh1
(Mus musculus)
Mlh1
(Rattus norvegicus)
mlh1
(Danio rerio)
MLH1
(Gallus gallus)
Mlh1
(Drosophila melanogaster)
Q28IF0_XENTR
(Xenopus laevis)
MLH1
(Canis familiaris)
(Compare orthologs)
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| Gene Ontology Term |
oogenesis, condensed nuclear chromosome, reciprocal meiotic recombination, double-strand break repair via nonhomologous end joining, protein binding, DNA repair, DNA damage response, signal transduction resulting in induction of apoptosis, response to toxin, meiosis, nuclear-transcribed mRNA poly(A) tail shortening, spindle midzone assembly involved in meiosis, ATPase activity, synaptonemal complex, male germ cell nucleus, spermatogenesis, response to hypoxia, single-stranded DNA binding, negative regulation of mitotic recombination, mismatched DNA binding, ATP binding, male meiosis chromosome segregation, cell cycle, meiotic metaphase I plate congression, nucleus, mismatch repair, resolution of meiotic recombination intermediates, response to drug, meiotic chromosome segregation, chromosome, response to DNA damage stimulus, male meiosis, condensed chromosome, guanine/thymine mispair binding, pachytene, somatic recombination of immunoglobulin gene segments, ATP catabolic process, MutLalpha complex, structure-specific DNA binding, somatic recombination of immunoglobulin genes involved in immune response, MutSalpha complex binding, somatic hypermutation of immunoglobulin genes, isotype switching, chiasma, MutLbeta complex, cellular response to organic cyclic compound |
| Gene Ontology ID |
GO:0003697, GO:0007049, GO:0008630, GO:0007060, GO:0007131, GO:0007126, GO:0007140, GO:0009636, GO:0007283, GO:0051257, GO:0042493, GO:0016887, GO:0048477, GO:0005524, GO:0005515, GO:0005694, GO:0005634, GO:0030983, GO:0006974, GO:0000712, GO:0043060, GO:0000794, GO:0000793, GO:0000795, GO:0006303, GO:0000289, GO:0006298, GO:0006281, GO:0045950, GO:0001673, GO:0001666, GO:0045132, GO:0016446, GO:0016447, GO:0005712, GO:0002204, GO:0032407, GO:0006200, GO:0000239, GO:0043566, GO:0071407, GO:0045190, GO:0032137, GO:0032389, GO:0032390 |
| Ensembl Family |
ENSFM00250000003790 |
| InterPro Term |
DNA_mismatch_repair_N, DNA_mismatch_repair_C, ATPase-like_ATP-bd |
| InterPro ID |
IPR014763, IPR013507, IPR003594 |
| Ensembl Family Description |
DNA MISMATCH REPAIR MLH1 MUTL HOMOLOG 1 |
| Ensembl Protein ID |
ENSP00000398272, ENSP00000398392, ENSP00000416476, ENSP00000231790, ENSP00000416687, ENSP00000407773, ENSP00000416783, ENSP00000407019, ENSP00000400844, ENSP00000411066, ENSP00000405324, ENSP00000387511, ENSP00000392649, ENSP00000413580, ENSP00000373270, ENSP00000402564, ENSP00000379715, ENSP00000402667, ENSP00000399329, ENSP00000393006, ENSP00000444286, ENSP00000443665, ENSP00000442802 |
| UniProt Accession |
A8W2I7, Q5GJ64, Q0ZAJ6, Q16335, Q59EG3, A5JTV0, A5JTV1, B7Z821, P40692, B4DI13, C9JZ54, C4PFY8, E7EUC9, E9PCU2, E9PE33, E9PEB4, E9PF25, F2Z298, F5H6L5, F5H745 |
| EMBL-Bank ID |
EU188665, AK316074, AK316264, U17839, U17844, U17843, U17842, U17841, U17840, U17849, U17848, U17847, U17846, U17845, S77856, U40964, U40963, U40966, U40965, U40968, U40967, U40969, U40960, U40961, U40962, U40972, U40971, U40974, U40973, U40970, U40975, U40976, U40977, U40978, AK295359, AC011816, AY517558, BC006850, DQ648890, AB209848, AK302807, CH471055, FJ940753, AC006583, U07418, U17857, U17851, U17852, U17853, U17854, U17855, U17856, U07343, AK298324, AY217549, EF570786, EF570787 |
| HGNC Symbol |
MLH1 |
| Entrez Gene ID |
4292 |
| Ensembl Gene ID |
ENSG00000076242 |
| RefSeq ID |
NM_001167619, NM_001167618, NM_001167617, NP_000240, NM_000249, NP_001161089, NP_001161091, NP_001161090 |
| Gene-Disease Assocation |
CAFE-AU-LAIT SPOTS, MULTIPLE, ENDOMETRIAL CANCER, MISMATCH REPAIR CANCER SYNDROME, MUIR-TORRE SYNDROME; MRTES, COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 2; HNPCC2 |
| Description |
mutL homolog 1, colon cancer, nonpolyposis type 2 (E. coli) [Source:HGNC Symbol;Acc:7127] |
| UniGene ID |
Hs.195364 |
| Ensembl Transcript ID |
ENST00000442249, ENST00000436867, ENST00000450420, ENST00000383761, ENST00000476172, ENST00000458009, ENST00000458205, ENST00000485889, ENST00000457004, ENST00000454028, ENST00000447829, ENST00000539477, ENST00000492474, ENST00000429117, ENST00000441265, ENST00000435176, ENST00000537937, ENST00000536378, ENST00000231790, ENST00000432299, ENST00000396438, ENST00000421440, ENST00000466900, ENST00000413740, ENST00000455445, ENST00000456676, ENST00000413212 |
| Design Element |
U07418_at, ENST00000413740, ENST00000436867, ENST00000457004, g4557756_3p_s_at, ENST00000450420, ENST00000492474, ENST00000454028, ENST00000396438, ENST00000447829, ENST00000435176, ENST00000537937, 202520_s_at, ENST00000421440, ENST00000455445, ENST00000441265, ENST00000536378, ENST00000429117, ENST00000485889, ENST00000539477, ENST00000442249, ENST00000383761, 1850_at, ENST00000456676, AF001359_f_at, ENST00000476172, ENST00000466900, ENST00000231790, ENST00000413212, ENST00000458205, ENST00000432299, ENST00000458009 |
| Search EB-eye |
ENSG00000076242
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