Gene
kmt5b
- ID
- ZDB-GENE-041114-22
- Name
- lysine methyltransferase 5B
- Symbol
- kmt5b Nomenclature History
- Previous Names
-
- suv420h1 (1)
- wu:fb97g06
- wu:fi57g03
- zgc:103527
- Type
- protein_coding_gene
- Location
- Chr: 18 Mapping Details/Browsers
- Description
- Enables histone H4K20 methyltransferase activity. Acts upstream of or within regulation of growth. Predicted to be located in chromosome. Predicted to be active in nucleus. Human ortholog(s) of this gene implicated in autosomal dominant intellectual developmental disorder 51. Orthologous to human KMT5B (lysine methyltransferase 5B).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 2 figures from 2 publications
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
-
- MGC:103527 (1 image)
Wild Type Expression Summary
- All Phenotype Data
- No data available
- Cross-Species Comparison
- Alliance
Phenotype Summary
Mutations
| Allele | Type | Localization | Consequence | Mutagen | Supplier |
|---|---|---|---|---|---|
| sa18386 | Allele with one point mutation | Unknown | Premature Stop | ENU | |
| sa23293 | Allele with one point mutation | Unknown | Premature Stop | ENU | |
| sa36641 | Allele with one point mutation | Unknown | Splice Site | ENU | |
| sa36642 | Allele with one point mutation | Unknown | Premature Stop | ENU | |
| uab320 | Allele with multiple variants | Unknown | Unknown | CRISPR |
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Human Disease
| Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
|---|---|---|---|
| autosomal dominant intellectual developmental disorder 51 | Alliance | Intellectual developmental disorder, autosomal dominant 51 | 617788 |
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Domain, Family, and Site Summary
Domain Details Per Protein
| Protein | Additional Resources | Length | Histone-lysine N-methyltransferase, N-terminal domain | Histone-lysine N-methyltransferase Suv4-20/Set9 | KMT5B , SET domain | SET domain | SET domain superfamily | Suv4-20 family, animal |
|---|---|---|---|---|---|---|---|---|
| UniProtKB:Q5U3H2 | InterPro | 808 |
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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 | CH211-286F6 | ||
| Contained in | BAC | DKEY-12E7 | ZFIN Curated Data | |
| Encodes | EST | fb97g06 | ZFIN Curated Data | |
| Encodes | EST | fi57g03 | ZFIN Curated Data | |
| Encodes | cDNA | MGC:103527 | ZFIN Curated Data |
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| Type | Accession # | Sequence | Length (nt/aa) | Analysis |
|---|---|---|---|---|
| RNA | RefSeq:NM_001007337 (1) | 2819 nt | ||
| Genomic | RefSeq:NW_018395023 (1) | 360995 nt | ||
| Polypeptide | UniProtKB:Q5U3H2 (1) | 808 aa |
- Zhao, S., Mo, G., Wang, Q., Xu, J., Yu, S., Huang, Z., Liu, W., Zhang, W. (2024) Role of RB1 in neurodegenerative diseases: inhibition of post-mitotic neuronal apoptosis via Kmt5b. Cell death discovery. 10:182182
- Geng, Y., Zhang, T., Alonzo, I.G., Godar, S.C., Yates, C., Pluimer, B.R., Harrison, D.L., Nath, A.K., Yeh, J.J., Drummond, I.A., Bortolato, M., Peterson, R.T. (2022) Top2a promotes the development of social behavior via PRC2 and H3K27me3. Science advances. 8:eabm7069
- Huang, H.T., Kathrein, K.L., Barton, A., Gitlin, Z., Huang, Y.H., Ward, T.P., Hofmann, O., Dibiase, A., Song, A., Tyekucheva, S., Hide, W., Zhou, Y., and Zon, L.I. (2013) A network of epigenetic regulators guides developmental haematopoiesis in vivo. Nature cell biology. 15(12):1516-1525
- Kuo, A.J., Song, J., Cheung, P., Ishibe-Murakami, S., Yamazoe, S., Chen, J.K., Patel, D.J., and Gozani, O. (2012) The BAH domain of ORC1 links H4K20me2 to DNA replication licensing and Meier-Gorlin syndrome. Nature. 484(7392):115-119
- Sun, X.J., Xu, P.F., Zhou, T., Hu, M., Fu, C.T., Zhang, Y., Jin, Y., Chen, Y., Chen, S.J., Huang, Q.H., Liu, T.X., and Chen, Z. (2008) Genome-Wide Survey and Developmental Expression Mapping of Zebrafish SET Domain-Containing Genes. PLoS One. 3(1):e1499
- Strausberg,R.L., Feingold,E.A., Grouse,L.H., Derge,J.G., Klausner,R.D., Collins,F.S., Wagner,L., Shenmen,C.M., Schuler,G.D., Altschul,S.F., Zeeberg,B., Buetow,K.H., Schaefer,C.F., Bhat,N.K., Hopkins,R.F., Jordan,H., Moore,T., Max,S.I., Wang,J., Hsieh,F., Diatchenko,L., Marusina,K., Farmer,A.A., Rubin,G.M., Hong,L., Stapleton,M., Soares,M.B., Bonaldo,M.F., Casavant,T.L., Scheetz,T.E., Brownstein,M.J., Usdin,T.B., Toshiyuki,S., Carninci,P., Prange,C., Raha,S.S., Loquellano,N.A., Peters,G.J., Abramson,R.D., Mullahy,S.J., Bosak,S.A., McEwan,P.J., McKernan,K.J., Malek,J.A., Gunaratne,P.H., Richards,S., Worley,K.C., Hale,S., Garcia,A.M., Gay,L.J., Hulyk,S.W., Villalon,D.K., Muzny,D.M., Sodergren,E.J., Lu,X., Gibbs,R.A., Fahey,J., Helton,E., Ketteman,M., Madan,A., Rodrigues,S., Sanchez,A., Whiting,M., Madan,A., Young,A.C., Shevchenko,Y., Bouffard,G.G., Blakesley,R.W., Touchman,J.W., Green,E.D., Dickson,M.C., Rodriguez,A.C., Grimwood,J., Schmutz,J., Myers,R.M., Butterfield,Y.S., Krzywinski,M.I., Skalska,U., Smailus,D.E., Schnerch,A., Schein,J.E., Jones,S.J., and Marra,M.A. (2002) Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. Proceedings of the National Academy of Sciences of the United States of America. 99(26):16899-903
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