Gene
mlh1
- ID
- ZDB-GENE-040426-1600
- Name
- mutL homolog 1, colon cancer, nonpolyposis type 2 (E. coli)
- Symbol
- mlh1 Nomenclature History
- Previous Names
-
- zgc:66301 (1)
- Type
- protein_coding_gene
- Location
- Chr: 13 Mapping Details/Browsers
- Description
- Predicted to enable ATP hydrolysis activity. Acts upstream of or within meiosis I and spermatogenesis. Predicted to be located in nucleus. Predicted to be part of MutLalpha complex. Is expressed in head and testis. Human ortholog(s) of this gene implicated in Lynch syndrome (multiple); gastrointestinal system cancer (multiple); lung cancer; mismatch repair cancer syndrome; and sporadic breast cancer. Orthologous to human MLH1 (mutL homolog 1).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 4 figures from 4 publications
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
-
- MGC:66301 (1 image)
Wild Type Expression Summary
- All Phenotype Data
- 11 figures from 3 publications
- Cross-Species Comparison
- Alliance
Phenotype Summary
Mutations
Allele | Type | Localization | Consequence | Mutagen | Supplier |
---|---|---|---|---|---|
hu1919 | Allele with one point mutation | Unknown | Splice Site | ENU | |
sa14372 | Allele with one point mutation | Unknown | Splice Site | ENU | |
sa31959 | Allele with one point mutation | Unknown | Premature Stop | ENU | |
sa31960 | Allele with one point mutation | Unknown | Premature Stop | ENU |
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Human Disease
Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
---|---|---|---|
hereditary nonpolyposis colorectal cancer type 2 | Alliance | Lynch syndrome 2 | 609310 |
mismatch repair cancer syndrome | Alliance | Mismatch repair cancer syndrome 1 | 276300 |
Muir-Torre syndrome | Alliance | Muir-Torre syndrome | 158320 |
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Domain, Family, and Site Summary
Type | InterPro ID | Name |
---|---|---|
Conserved_site | IPR014762 | DNA mismatch repair, conserved site |
Domain | IPR013507 | DNA mismatch repair protein, S5 domain 2-like |
Domain | IPR032189 | DNA mismatch repair protein Mlh1, C-terminal |
Family | IPR002099 | DNA mismatch repair protein MutL/Mlh/PMS |
Family | IPR038973 | DNA mismatch repair protein MutL/Mlh/Pms-like |
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Domain Details Per Protein
Protein | Additional Resources | Length | DNA mismatch repair, conserved site | DNA mismatch repair protein Mlh1, C-terminal | DNA mismatch repair protein MutL/Mlh/PMS | DNA mismatch repair protein MutL/Mlh/Pms-like | DNA mismatch repair protein, S5 domain 2-like | Histidine kinase/HSP90-like ATPase superfamily | Ribosomal protein uS5 domain 2-type superfamily | Small ribosomal subunit protein uS5 domain 2-type fold, subgroup |
---|---|---|---|---|---|---|---|---|---|---|
UniProtKB:A0A8M3AZE4 | InterPro | 655 | ||||||||
UniProtKB:Q6PFL1 | InterPro | 724 | ||||||||
UniProtKB:A0AB13AAI6 | InterPro | 724 | ||||||||
UniProtKB:A0AB32U2A4 | InterPro | 655 |
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Interactions and Pathways
No data available
Plasmids
No data available
No data available
Relationship | Marker Type | Marker | Accession Numbers | Citations |
---|---|---|---|---|
Contained in | BAC | CH211-229O17 | ZFIN Curated Data | |
Encodes | cDNA | MGC:66301 | ZFIN Curated Data |
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Type | Accession # | Sequence | Length (nt/aa) | Analysis |
---|---|---|---|---|
RNA | RefSeq:NM_001431064 (1) | 2404 nt | ||
Genomic | GenBank:BX936318 (2) | 158912 nt | ||
Polypeptide | UniProtKB:A0AB13AAI6 (1) | 724 aa |
- Ou, Y., Li, H., Li, J., Dai, X., He, J., Wang, S., Liu, Q., Yang, C., Wang, J., Zhao, R., Yin, Z., Shu, Y., Liu, S. (2024) Formation of different polyploids through disrupting meiotic crossover frequencies based on cntd1 knockout in zebrafish. Molecular Biology and Evolution. 41(3):
- Dai, X., Cheng, X., Huang, J., Gao, Y., Wang, D., Feng, Z., Zhai, G., Lou, Q., He, J., Wang, Z., Yin, Z. (2021) Rbm46, a novel germ cell specific factor, modulates meiotic progression and spermatogenesis. Biology of reproduction. 104(5):1139-1153
- Li, J., Liu, F., Lv, Y., Sun, K., Zhao, Y., Reilly, J., Zhang, Y., Tu, J., Yu, S., Liu, X., Qin, Y., Huang, Y., Gao, P., Jia, D., Chen, X., Han, Y., Shu, X., Luo, D., Tang, Z., Liu, M. (2021) Prpf31 is essential for the survival and differentiation of retinal progenitor cells by modulating alternative splicing. Nucleic acids research. 49(4):2027-2043
- Shin, U., Nakhro, K., Oh, C.K., Carrington, B., Song, H., Varshney, G.K., Kim, Y., Song, H., Jeon, S., Robbins, G., Kim, S., Yoon, S., Choi, Y.J., Kim, Y.J., Burgess, S., Kang, S., Sood, R., Lee, Y., Myung, K. (2021) Large-scale generation and phenotypic characterization of zebrafish CRISPR mutants of DNA repair genes. DNA repair. 107:103173
- Lei, L., Yan, S.Y., Yang, R., Chen, J.Y., Li, Y., Bu, Y., Chang, N., Zhou, Q., Zhu, X., Li, C.Y., Xiong, J.W. (2017) Spliceosomal protein eftud2 mutation leads to p53-dependent apoptosis in zebrafish neural progenitors. Nucleic acids research. 45(6):3422-3436
- Xia, H., Zhong, C., Wu, X., Chen, J., Tao, B., Xia, X., Shi, M., Zhu, Z., Trudeau, V.L., Hu, W. (2017) Mettl3 Mutation Disrupts Gamete Maturation and Reduces Fertility in Zebrafish.. Genetics. 208(2):729-743
- Zhang, Y., O'Leary, M.N., Peri, S., Wang, M., Zha, J., Melov, S., Kappes, D.J., Feng, Q., Rhodes, J., Amieux, P.S., Morris, D.R., Kennedy, B.K., Wiest, D.L. (2017) Ribosomal Proteins Rpl22 and Rpl22l1 Control Morphogenesis by Regulating Pre-mRNA Splicing. Cell Reports. 18:545-556
- Chen, Y., Huang, C., Bai, C., Du, C., Liao, J., Dong, Q. (2016) In vivo DNA mismatch repair measurement in zebrafish embryos and its use in screening of environmental carcinogens. Journal of hazardous materials. 302:296-303
- Elkon, R., Milon, B., Morrison, L., Shah, M., Vijayakumar, S., Racherla, M., Leitch, C.C., Silipino, L., Hadi, S., Weiss-Gayet, M., Barras, E., Schmid, C.D., Ait-Lounis, A., Barnes, A., Song, Y., Eisenman, D.J., Eliyahu, E., Frolenkov, G.I., Strome, S.E., Durand, B., Zaghloul, N.A., Jones, S.M., Reith, W., Hertzano, R. (2015) RFX transcription factors are essential for hearing in mice. Nature communications. 6:8549
- Corrales, J., Fang, X., Thornton, C., Mei, W., Barbazuk, W.B., Duke, M., Scheffler, B.E., Willett, K.L. (2014) Effects on specific promoter DNA methylation in zebrafish embryos and larvae following benzo[a]pyrene exposure. Comparative biochemistry and physiology. Toxicology & pharmacology : CBP. 163:37-46
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