Gene
slx4
- ID
- ZDB-GENE-050208-359
- Name
- SLX4 structure-specific endonuclease subunit homolog (S. cerevisiae)
- Symbol
- slx4 Nomenclature History
- Previous Names
-
- btbd12
- fancp (1)
- si:dkey-44g23.4
- Type
- protein_coding_gene
- Location
- Chr: 22 Mapping Details/Browsers
- Description
- Predicted to enable metal ion binding activity. Acts upstream of or within gallbladder development and hepatic duct development. Predicted to be located in membrane and nucleus. Predicted to be part of Slx1-Slx4 complex. Human ortholog(s) of this gene implicated in Fanconi anemia complementation group P. Orthologous to human SLX4 (SLX4 structure-specific endonuclease subunit).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- No data available
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
- No data available
Wild Type Expression Summary
Phenotype Summary
Mutations
Allele | Type | Localization | Consequence | Mutagen | Supplier |
---|---|---|---|---|---|
hg66 | Allele with one deletion | Unknown | Unknown | CRISPR | |
hg67 | Allele with one deletion | Exon 5 | Unknown | CRISPR | |
p317 | Allele with one point mutation | Unknown | Unknown | ENU | |
sa18364 | Allele with one point mutation | Unknown | Premature Stop | ENU | |
sa24191 | Allele with one point mutation | Unknown | Splice Site | ENU | |
sa29809 | Allele with one point mutation | Unknown | Premature Stop | ENU | |
sa37533 | Allele with one point mutation | Unknown | Premature Stop | ENU | |
sa45773 | 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 |
---|---|---|---|
Fanconi anemia complementation group P | Alliance | Fanconi anemia, complementation group P | 613951 |
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Domain, Family, and Site Summary
Domain Details Per Protein
Protein | Length | BTB/POZ domain | SKP1/BTB/POZ domain superfamily | Structure-specific endonuclease subunit Slx4 | Zinc finger C2H2-type |
---|---|---|---|---|---|
UniProtKB:F1QPU2
|
1719 | ||||
UniProtKB:A0A8M1RN23
|
1720 |
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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 | DKEY-44G23 | ZFIN Curated Data |
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Type | Accession # | Sequence | Length (nt/aa) | Analysis |
---|---|---|---|---|
RNA | RefSeq:XM_003201098 (1) | |||
Genomic | GenBank:AL953841 (1) | 219929 nt | ||
Polypeptide | UniProtKB:A0A8M1RN23 (1) | 1720 aa |
- Comparative Orthology
- Alliance
- Tu, J., Yu, S., Li, J., Ren, M., Zhang, Y., Luo, J., Sun, K., Lv, Y., Han, Y., Huang, Y., Ren, X., Jiang, T., Tang, Z., Williams, M.T.S., Lu, Q., Liu, M. (2022) Dhx38 regulates the maintenance and differentiation of erythro-myeloid progenitors and hematopoietic stem cells by alternative splicing. Development (Cambridge, England). 149(17)
- Xie, H., Kang, Y., Wang, S., Zheng, P., Chen, Z., Roy, S., Zhao, C. (2020) E2f5 is a versatile transcriptional activator required for spermatogenesis and multiciliated cell differentiation in zebrafish. PLoS Genetics. 16:e1008655
- Ramanagoudr-Bhojappa, R., Carrington, B., Ramaswami, M., Bishop, K., Robbins, G.M., Jones, M., Harper, U., Frederickson, S.C., Kimble, D.C., Sood, R., Chandrasekharappa, S.C. (2018) Multiplexed CRISPR/Cas9-mediated knockout of 19 Fanconi anemia pathway genes in zebrafish revealed their roles in growth, sexual development and fertility. PLoS Genetics. 14:e1007821
- 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
- Lorent, K., Gong, W., Koo, K.A., Waisbourd-Zinman, O., Karjoo, S., Zhao, X., Sealy, I., Kettleborough, R.N., Stemple, D.L., Windsor, P.A., Whittaker, S.J., Porter, J.R., Wells, R.G., Pack, M. (2015) Identification of a plant isoflavonoid that causes biliary atresia. Science Translational Medicine. 7:286ra67
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