Gene
smarcad1b
- ID
- ZDB-GENE-091113-61
- Name
- SNF2 related chromatin remodeling ATPase with DExD box 1b
- Symbol
- smarcad1b Nomenclature History
- Previous Names
-
- si:dkey-76p7.6
- Type
- protein_coding_gene
- Location
- Chr: 10 Mapping Details/Browsers
- Description
- Predicted to enable DNA binding activity; chromatin binding activity; and nucleosome array spacer activity. Predicted to be involved in DNA double-strand break processing; heterochromatin formation; and positive regulation of transcription by RNA polymerase II. Predicted to act upstream of or within DNA repair and chromatin organization. Predicted to be located in site of double-strand break. Predicted to be active in chromatin and nucleus. Is expressed in several structures, including brain; intermediate cell mass of mesoderm; optic vesicle; retina; and tail bud. Human ortholog(s) of this gene implicated in BASAN syndrome and adermatoglyphia. Orthologous to human SMARCAD1 (SNF2 related chromatin remodeling ATPase with DExD box 1).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 3 figures from 2 publications
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
- No data available
Wild Type Expression Summary
- All Phenotype Data
- No data available
- Cross-Species Comparison
- Alliance
Phenotype Summary
Mutations
| Allele | Type | Localization | Consequence | Mutagen | Supplier |
|---|---|---|---|---|---|
| sa11433 | Allele with one point mutation | Unknown | Premature Stop | ENU | |
| sa21706 | Allele with one point mutation | Unknown | Premature Stop | ENU | |
| sa41628 | Allele with one point mutation | Unknown | Splice Site | ENU | |
| sa41629 | 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 |
|---|---|---|---|
| adermatoglyphia | Alliance | Adermatoglyphia | 136000 |
| BASAN syndrome | Alliance | Basan syndrome | 129200 |
| Huriez syndrome | 181600 |
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Domain, Family, and Site Summary
Domain Details Per Protein
| Protein | Additional Resources | Length | Helicase, C-terminal domain-like | Helicase superfamily 1/2, ATP-binding domain | P-loop containing nucleoside triphosphate hydrolase | SNF2-like, N-terminal domain superfamily | SNF2, N-terminal | SNF2/RAD5-like, C-terminal helicase domain | UBA-like superfamily | Ubiquitin system component CUE |
|---|---|---|---|---|---|---|---|---|---|---|
| UniProtKB:E7F1C4 | InterPro | 954 | ||||||||
| UniProtKB:A0A8N7UVW1 | InterPro | 809 | ||||||||
| UniProtKB:A0A8M2B257 | InterPro | 955 | ||||||||
| UniProtKB:A0AB13A787 | InterPro | 954 |
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| Type | Name | Annotation Method | Has Havana Data | Length (nt) | Analysis |
|---|---|---|---|---|---|
| mRNA |
smarcad1b-201
(1)
|
Ensembl | 3,464 nt | ||
| ncRNA |
smarcad1b-002
(1)
|
Ensembl | 598 nt |
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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-76P7 | ZFIN Curated Data |
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| Type | Accession # | Sequence | Length (nt/aa) | Analysis |
|---|---|---|---|---|
| RNA | RefSeq:NM_001353868 (1) | |||
| Genomic | GenBank:BX927385 (1) | 243665 nt | ||
| Polypeptide | UniProtKB:A0A8M2B257 (1) | 955 aa |
- Han, H., Jiang, G., Kumari, R., Silic, M.R., Owens, J.L., Hu, C.D., Mittal, S.K., Zhang, G.J. (2021) Loss of smarcad1a accelerates tumorigenesis of malignant peripheral nerve sheath tumors in zebrafish. Genes, chromosomes & cancer. 60(11):743-761
- Braasch, I., Gehrke, A.R., Smith, J.J., Kawasaki, K., Manousaki, T., Pasquier, J., Amores, A., Desvignes, T., Batzel, P., Catchen, J., Berlin, A.M., Campbell, M.S., Barrell, D., Martin, K.J., Mulley, J.F., Ravi, V., Lee, A.P., Nakamura, T., Chalopin, D., Fan, S., Wcisel, D., Cañestro, C., Sydes, J., Beaudry, F.E., Sun, Y., Hertel, J., Beam, M.J., Fasold, M., Ishiyama, M., Johnson, J., Kehr, S., Lara, M., Letaw, J.H., Litman, G.W., Litman, R.T., Mikami, M., Ota, T., Saha, N.R., Williams, L., Stadler, P.F., Wang, H., Taylor, J.S., Fontenot, Q., Ferrara, A., Searle, S.M., Aken, B., Yandell, M., Schneider, I., Yoder, J.A., Volff, J.N., Meyer, A., Amemiya, C.T., Venkatesh, B., Holland, P.W., Guiguen, Y., Bobe, J., Shubin, N.H., Di Palma, F., Alföldi, J., Lindblad-Toh, K., Postlethwait, J.H. (2016) The spotted gar genome illuminates vertebrate evolution and facilitates human-teleost comparisons. Nature Genetics. 48(4):427-37
- Diotel, N., Viales, R.R., Armant, O., März, M., Ferg, M., Rastegar, S., Strähle, U. (2015) Comprehensive expression map of transcription regulators in the adult zebrafish telencephalon reveals distinct neurogenic niches. The Journal of comparative neurology. 523(8):1202-21
- 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
- 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
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