Gene
smc5
- ID
- ZDB-GENE-061013-288
- Name
- structural maintenance of chromosomes 5
- Symbol
- smc5 Nomenclature History
- Previous Names
-
- pufa (1)
- pum3
- wu:fb70d10
- wu:fi47h05
- zgc:152845
- zgc:66377
- Type
- protein_coding_gene
- Location
- Chr: 10 Mapping Details/Browsers
- Description
- Predicted to enable single-stranded DNA binding activity. Acts upstream of or within cartilage morphogenesis and regulation of apoptotic process involved in development. Predicted to be located in chromosome, telomeric region. Predicted to be part of Smc5-Smc6 complex. Predicted to be active in nucleus. Human ortholog(s) of this gene implicated in mosaic variegated aneuploidy syndrome. Orthologous to human SMC5 (structural maintenance of chromosomes 5).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 1 figure from Zhu et al., 2023
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
- No data available
Wild Type Expression Summary
- All Phenotype Data
- 2 figures from Zhu et al., 2023
- Cross-Species Comparison
- Alliance
Phenotype Summary
Mutations
| Targeting Reagent | Created Alleles | Citations |
|---|---|---|
| CRISPR1-smc5 | Zhu et al., 2023 | |
| MO1-smc5 | N/A | Zhu et al., 2023 |
1 - 2 of 2
Show
Human Disease
| Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
|---|---|---|---|
| Atelis syndrome 2 | 620185 |
1 - 1 of 1
Domain, Family, and Site Summary
Domain Details Per Protein
| Protein | Additional Resources | Length | P-loop containing nucleoside triphosphate hydrolase | Rad50/SbcC-type AAA domain | RecF/RecN/SMC, N-terminal |
|---|---|---|---|---|---|
| UniProtKB:F1QEQ8 | InterPro | 697 | |||
| UniProtKB:E7F0W1 | InterPro | 1073 |
1 - 2 of 2
Interactions and Pathways
No data available
Plasmids
No data available
No data available
| Relationship | Marker Type | Marker | Accession Numbers | Citations |
|---|---|---|---|---|
| Contained in | BAC | CH211-117O11 | ZFIN Curated Data | |
| Encodes | EST | fb70d10 | ||
| Encodes | EST | fi47h05 | ||
| Encodes | cDNA | MGC:66377 | ZFIN Curated Data | |
| Encodes | cDNA | MGC:152845 | ZFIN Curated Data | |
| Encodes | cDNA | MGC:193106 | ZFIN Curated Data |
1 - 6 of 6
Show
| Type | Accession # | Sequence | Length (nt/aa) | Analysis |
|---|---|---|---|---|
| RNA | RefSeq:NM_001193541 (1) | 3575 nt | ||
| Genomic | GenBank:CR628386 (1) | 148044 nt | ||
| Polypeptide | UniProtKB:E7F0W1 (1) | 1073 aa |
- Zhu, W., Shi, Y., Zhang, C., Peng, Y., Wan, Y., Xu, Y., Liu, X., Han, B., Zhao, S., Kuang, Y., Song, H., Qiao, J. (2023) In-frame deletion of SMC5 related with the phenotype of primordial dwarfism, chromosomal instability and insulin resistance. Clinical and translational medicine. 13:e1007e1007
- 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)
- Islam, K.N., Modi, M.M., Siegfried, K.R. (2021) The Zebrafish Meiotic Cohesin Complex Protein Smc1b Is Required for Key Events in Meiotic Prophase I. Frontiers in cell and developmental biology. 9:714245
- Weinreb, J.T., Gupta, V., Sharvit, E., Weil, R., Bowman, T.V. (2021) Ddx41 inhibition of DNA damage signaling permits erythroid progenitor expansion in zebrafish. Haematologica. 107(3):644-654
- 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
- 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
1 - 6 of 6
Show