Gene
mks1
- ID
- ZDB-GENE-030131-3813
- Name
- MKS transition zone complex subunit 1
- Symbol
- mks1 Nomenclature History
- Previous Names
-
- fc54h05
- si:dkey-189h5.2
- wu:fc54h05
- zgc:153149
- Type
- protein_coding_gene
- Location
- Chr: 5 Mapping Details/Browsers
- Description
- Acts upstream of or within dorsal convergence. Predicted to be located in cytoplasm and cytoskeleton. Predicted to be part of MKS complex. Used to study ciliopathy. Human ortholog(s) of this gene implicated in Bardet-Biedl syndrome; Bardet-Biedl syndrome 13; Joubert syndrome 28; and Meckel syndrome 1. Orthologous to human MKS1 (MKS transition zone complex subunit 1).
- 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 |
|---|---|---|---|---|---|
| sa7574 | Allele with one point mutation | Unknown | Missense | ENU | |
| sa20540 | Allele with one point mutation | Unknown | Splice Site | ENU | |
| sa40567 | Allele with one point mutation | Unknown | Splice Site | ENU | |
| uab12 | Allele with one insertion | Exon 2 | Frameshift, Premature Stop | CRISPR | |
| w152 | Allele with one insertion | Unknown | Frameshift | CRISPR |
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| Targeting Reagent | Created Alleles | Citations |
|---|---|---|
| CRISPR1-mks1 | Stawicki et al., 2016 | |
| CRISPR2-mks1 | Stawicki et al., 2016 | |
| CRISPR3-mks1 | Wang et al., 2022 | |
| MO1-mks1 | N/A | (2) |
| MO2-mks1 | N/A | (4) |
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Human Disease
| Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
|---|---|---|---|
| Bardet-Biedl syndrome 13 | Alliance | Bardet-Biedl syndrome 13 | 615990 |
| Joubert syndrome 28 | Alliance | Joubert syndrome 28 | 617121 |
| Meckel syndrome 1 | Alliance | Meckel syndrome 1 | 249000 |
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| Human Disease | Fish | Conditions | Citations |
|---|---|---|---|
| ciliopathy | WT + MO2-mks1 | control | Tobin et al., 2008 |
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Domain, Family, and Site Summary
| Type | InterPro ID | Name |
|---|---|---|
| Family | IPR010796 | B9-type C2 domain |
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Domain Details Per Protein
| Protein | Length | B9-type C2 domain |
|---|---|---|
|
UniProtKB:Q08BN0
|
||
|
UniProtKB:A3QK09
|
559 |
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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-189H5 | ZFIN Curated Data | |
| Encodes | EST | fc54h05 | ||
| Encodes | cDNA | MGC:153149 | ZFIN Curated Data |
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| Type | Accession # | Sequence | Length (nt/aa) | Analysis |
|---|---|---|---|---|
| RNA | RefSeq:NM_001077373 (1) | 2091 nt | ||
| Genomic | GenBank:BX322606 (1) | 240928 nt | ||
| Polypeptide | UniProtKB:A3QK09 (1) | 559 aa |
- Wang, J., Thomas, H.R., Thompson, R.G., Waldrep, S.C., Fogerty, J., Song, P., Li, Z., Ma, Y., Santra, P., Hoover, J.D., Yeo, N.C., Drummond, I.A., Yoder, B.K., Amack, J.D., Perkins, B., Parant, J.M. (2022) Variable phenotypes and penetrance between and within different zebrafish ciliary transition zone mutants. Disease models & mechanisms. 15(12):
- Zhu, P., Qiu, Q., Harris, P.C., Xu, X., Lin, X. (2021) mtor Haploinsufficiency Ameliorates Renal Cysts and Cilia Abnormality in Adult Zebrafish tmem67 Mutants. Journal of the American Society of Nephrology : JASN. 32(4):822-836
- Stawicki, T.M., Hernandez, L., Esterberg, R., Linbo, T., Owens, K.N., Shah, A.N., Thapa, N., Roberts, B., Moens, C.B., Rubel, E.W., Raible, D.W. (2016) Cilia-Associated Genes Play Differing Roles in Aminoglycoside-Induced Hair Cell Death in Zebrafish. G3 (Bethesda). 6(7):2225-35
- Niederriter, A.R., Davis, E.E., Golzio, C., Oh, E.C., Tsai, I.C., and Katsanis, N. (2013) In Vivo Modeling of the Morbid Human Genome using Danio rerio. Journal of visualized experiments : JoVE. (78):e50338
- Davis, E.E., Zhang, Q., Liu, Q., Diplas, B.H., Davey, L.M., Hartley, J., Stoetzel, C., Szymanska, K., Ramaswami, G., Logan, C.V., Muzny, D.M., Young, A.C., Wheeler, D.A., Cruz, P., Morgan, M., Lewis, L.R., Cherukuri, P., Maskeri, B., Hansen, N.F., Mullikin, J.C., Blakesley, R.W., Bouffard, G.G., NISC Comparative Sequencing Program, Gyapay, G., Rieger, S., Tönshoff, B., Kern, I., Soliman, N.A., Neuhaus, T.J., Swoboda, K.J., Kayserili, H., Gallagher, T.E., Lewis, R.A., Bergmann, C., Otto, E.A., Saunier, S., Scambler, P.J., Beales, P.L., Gleeson, J.G., Maher, E.R., Attié-Bitach, T., Dollfus, H., Johnson, C.A., Green, E.D., Gibbs, R.A., Hildebrandt, F., Pierce, E.A., Katsanis, N. (2011) TTC21B contributes both causal and modifying alleles across the ciliopathy spectrum. Nature Genetics. 43(3):189-196
- Zhao, C., and Malicki, J. (2011) Nephrocystins and MKS proteins interact with IFT particle and facilitate transport of selected ciliary cargos. The EMBO journal. 30(13):2532-2544
- Leitch, C.C., Zaghloul, N.A., Davis, E.E., Stoetzel, C., Diaz-Font, A., Rix, S., Al-Fadhel, M., Lewis, R.A., Eyaid, W., Banin, E., Dollfus, H., Beales, P.L., Badano, J.L., and Katsanis, N. (2008) Hypomorphic mutations in syndromic encephalocele genes are associated with Bardet-Biedl syndrome. Nature Genetics. 40(4):443-448
- Tobin, J.L., and Beales, P.L. (2008) Restoration of renal function in zebrafish models of ciliopathies. Pediatric nephrology (Berlin, Germany). 23(11):2095-2099
- 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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