Gene
smarca5
- ID
- ZDB-GENE-021125-1
- Name
- SNF2 related chromatin remodeling ATPase 5
- Symbol
- smarca5 Nomenclature History
- Previous Names
- Type
- protein_coding_gene
- Location
- Chr: 1 Mapping Details/Browsers
- Description
- Predicted to enable ATP-dependent activity, acting on DNA and DNA binding activity. Acts upstream of or within cardiac ventricle development and retina development in camera-type eye. Predicted to be active in nucleus. Is expressed in telencephalon. Orthologous to human SMARCA5 (SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 5).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 9 figures from 7 publications
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
-
- IMAGE:7146484 (1 image)
Wild Type Expression Summary
- All Phenotype Data
- 12 figures from 6 publications
- Cross-Species Comparison
- Alliance
Phenotype Summary
Mutations
| Allele | Type | Localization | Consequence | Mutagen | Supplier |
|---|---|---|---|---|---|
| hi550Tg | Transgenic insertion | 5' UTR | Unknown | DNA | |
| sa11295 | Allele with one point mutation | Unknown | Splice Site | ENU | |
| sa14090 | Allele with one point mutation | Unknown | Splice Site | ENU | |
| sa19604 | Allele with one point mutation | Unknown | Splice Site | ENU | |
| sa32777 | Allele with one point mutation | Unknown | Splice Site | ENU | |
| zko1049a | Allele with one deletion | Unknown | Unknown | CRISPR | |
| zko1049b | Allele with one deletion | Unknown | Unknown | CRISPR |
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Human Disease
Domain, Family, and Site Summary
Domain Details Per Protein
| Protein | Length | Helicase, C-terminal domain-like | Helicase superfamily 1/2, ATP-binding domain | Homedomain-like superfamily | ISWI, HAND domain | ISWI, HAND domain superfamily | P-loop containing nucleoside triphosphate hydrolase | SANT domain | SANT/Myb domain | SLIDE domain | SNF2-like, N-terminal domain superfamily | SNF2, N-terminal | SNF2/RAD5-like, C-terminal helicase domain |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
UniProtKB:B8A552
|
1035 | ||||||||||||
|
UniProtKB:A2RUY6
|
1028 |
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| Type | Name | Annotation Method | Has Havana Data | Length (nt) | Analysis |
|---|---|---|---|---|---|
| mRNA |
smarca5-201
(1)
|
Ensembl | 3,711 nt |
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Interactions and Pathways
No data available
Plasmids
No data available
| Construct | Regulatory Region | Coding Sequence | Species | Tg Lines | Citations |
|---|---|---|---|---|---|
| Tg(hsp70l:FLAG-smarca5-EGFP) |
| 1 | Ding et al., 2020 |
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| Relationship | Marker Type | Marker | Accession Numbers | Citations |
|---|---|---|---|---|
| Contained in | BAC | CH73-251A15 | ZFIN Curated Data | |
| Contained in | BAC | DKEY-76A14 | ZFIN Curated Data | |
| Contains | SNP | rs3727550 | ZFIN Curated Data | |
| Contains | SNP | rs3727551 | ZFIN Curated Data | |
| Contains | SNP | rs3727552 | ZFIN Curated Data | |
| Contains | SNP | rs3727553 | ZFIN Curated Data | |
| Contains | SNP | rs3727554 | ZFIN Curated Data | |
| Encodes | EST | fb26d12 | ||
| Encodes | EST | fb49g04 | ||
| Encodes | EST | IMAGE:7146484 | Thisse et al., 2004 |
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| Type | Accession # | Sequence | Length (nt/aa) | Analysis |
|---|---|---|---|---|
| RNA | RefSeq:NM_001081629 (1) | 3711 nt | ||
| Genomic | GenBank:BX470255 (1) | 203708 nt | ||
| Polypeptide | UniProtKB:B8A552 (1) | 1035 aa |
- Tian, Y., Lautrup, S., Law, P.W.N., Dinh, N.D., Fang, E.F., Chan, W.Y. (2024) WRN loss accelerates abnormal adipocyte metabolism in Werner syndrome. Cell & Bioscience. 14:77
- Ding, Y., Li, Y., Zhao, Z., Cliff Zhang, Q., Liu, F. (2021) The chromatin-remodeling enzyme Smarca5 regulates erythrocyte aggregation via Keap1-Nrf2 signaling. eLIFE. 10:
- Covello, G., Rossello, F.J., Filosi, M., Gajardo, F., Duchemin, A.L., Tremonti, B.F., Eichenlaub, M., Polo, J.M., Powell, D., Ngai, J., Allende, M.L., Domenici, E., Ramialison, M., Poggi, L. (2020) Transcriptome analysis of the zebrafish atoh7-/- Mutant, lakritz, highlights Atoh7-dependent genetic networks with potential implications for human eye diseases. FASEB bioAdvances. 2:434-448
- Ding, Y., Wang, W., Ma, D., Liang, G., Kang, Z., Xue, Y., Zhang, Y., Wang, L., Heng, J., Zhang, Y., Liu, F. (2020) Smarca5 mediated epigenetic programming facilitates fetal HSPC development in vertebrates. Blood. 137(2):190-202
- Hoang, T., Wang, J., Boyd, P., Wang, F., Santiago, C., Jiang, L., Yoo, S., Lahne, M., Todd, L.J., Jia, M., Saez, C., Keuthan, C., Palazzo, I., Squires, N., Campbell, W.A., Rajaii, F., Parayil, T., Trinh, V., Kim, D.W., Wang, G., Campbell, L.J., Ash, J., Fischer, A.J., Hyde, D.R., Qian, J., Blackshaw, S. (2020) Gene regulatory networks controlling vertebrate retinal regeneration. Science (New York, N.Y.). 370(6519):
- Bayés, À., Collins, M.O., Reig-Viader, R., Gou, G., Goulding, D., Izquierdo, A., Choudhary, J.S., Emes, R.D., Grant, S.G. (2017) Evolution of complexity in the zebrafish synapse proteome. Nature communications. 8:14613
- Anderson, N.M., Li, D., Peng, H.L., Laroche, F.J., Mansour, M.R., Gjini, E., Aioub, M., Helman, D.J., Roderick, J.E., Cheng, T., Harrold, I., Samaha, Y., Meng, L., Amsterdam, A., Neuberg, D.S., Denton, T.T., Sanda, T., Kelliher, M.A., Singh, A., Look, A.T., Feng, H. (2016) The TCA cycle transferase DLST is important for MYC-mediated leukemogenesis. Leukemia. 30(6):1365-74
- Leontovich, A.A., Intine, R.V., Sarras, M.P. (2016) Epigenetic Studies Point to DNA Replication/Repair Genes as a Basis for the Heritable Nature of Long Term Complications in Diabetes. Journal of Diabetes Research. 2016:2860780
- 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
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